3-129238475-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238475
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238475
    reference: chr 3
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3086G>C
  hgvsp: ENSP00000410946.2:p.Arg1029Pro
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3515G>C
  hgvsp: ENSP00000425536.1:p.Arg1172Pro
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2909G>C
  hgvsp: ENSP00000401569.2:p.Arg970Pro
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2580G>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3206G>C
  hgvsp: ENSP00000324165.3:p.Arg1069Pro
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.1945G>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3167G>C
  hgvsp: ENSP00000422179.1:p.Arg1056Pro
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3359G>C
  hgvsp: ENSP00000323973.3:p.Arg1120Pro
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4252G>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3536G>C
  hgvsp: ENSP00000324005.3:p.Arg1179Pro
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3444G>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3689G>C
  hgvsp: ENSP00000296266.3:p.Arg1230Pro
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1230Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

3-129238475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238475
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238475
    reference: chr 3
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3086G>A
  hgvsp: ENSP00000410946.2:p.Arg1029Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3536G>A
  hgvsp: ENSP00000324005.3:p.Arg1179Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3167G>A
  hgvsp: ENSP00000422179.1:p.Arg1056Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2909G>A
  hgvsp: ENSP00000401569.2:p.Arg970Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3206G>A
  hgvsp: ENSP00000324165.3:p.Arg1069Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3689G>A
  hgvsp: ENSP00000296266.3:p.Arg1230Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2580G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.1945G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4252G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3515G>A
  hgvsp: ENSP00000425536.1:p.Arg1172Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3359G>A
  hgvsp: ENSP00000323973.3:p.Arg1120Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3444G>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1230Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

3-129238493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238493
    reference: chr 3
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3224G>A
  hgvsp: ENSP00000324165.3:p.Arg1075Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3377G>A
  hgvsp: ENSP00000323973.3:p.Arg1126Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3707G>A
  hgvsp: ENSP00000296266.3:p.Arg1236Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3185G>A
  hgvsp: ENSP00000422179.1:p.Arg1062Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3104G>A
  hgvsp: ENSP00000410946.2:p.Arg1035Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2927G>A
  hgvsp: ENSP00000401569.2:p.Arg976Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3533G>A
  hgvsp: ENSP00000425536.1:p.Arg1178Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4270G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3554G>A
  hgvsp: ENSP00000324005.3:p.Arg1185Gln
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2598G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.1963G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3462G>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1236Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-129238501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238501
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238501
    reference: chr 3
allele count: 2
allele frequency: 1.650083329208125e-5
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2606C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3193C>T
  hgvsp: ENSP00000422179.1:p.Pro1065Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3232C>T
  hgvsp: ENSP00000324165.3:p.Pro1078Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3715C>T
  hgvsp: ENSP00000296266.3:p.Pro1239Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3385C>T
  hgvsp: ENSP00000323973.3:p.Pro1129Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4278C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2935C>T
  hgvsp: ENSP00000401569.2:p.Pro979Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3562C>T
  hgvsp: ENSP00000324005.3:p.Pro1188Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3541C>T
  hgvsp: ENSP00000425536.1:p.Pro1181Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.1971C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3470C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3112C>T
  hgvsp: ENSP00000410946.2:p.Pro1038Ser
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1239Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-129238505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238505
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238505
    reference: chr 3
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3197C>T
  hgvsp: ENSP00000422179.1:p.Pro1066Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3389C>T
  hgvsp: ENSP00000323973.3:p.Pro1130Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4282C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.1975C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3566C>T
  hgvsp: ENSP00000324005.3:p.Pro1189Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3236C>T
  hgvsp: ENSP00000324165.3:p.Pro1079Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3719C>T
  hgvsp: ENSP00000296266.3:p.Pro1240Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2610C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2939C>T
  hgvsp: ENSP00000401569.2:p.Pro980Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3116C>T
  hgvsp: ENSP00000410946.2:p.Pro1039Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3545C>T
  hgvsp: ENSP00000425536.1:p.Pro1182Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3474C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1240Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

3-129238509-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238509
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238509
    reference: chr 3
allele count: 16
allele frequency: 1.320153797917457e-4
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3201G>T
  hgvsp: ENST00000504021.1:c.3201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3120G>T
  hgvsp: ENST00000431818.2:c.3120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3723G>T
  hgvsp: ENST00000296266.3:c.3723G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2943G>T
  hgvsp: ENST00000440957.2:c.2943G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3570G>T
  hgvsp: ENST00000348417.2:c.3570G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3478G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3393G>T
  hgvsp: ENST00000347300.2:c.3393G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.1979G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4286G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2614G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3549G>T
  hgvsp: ENST00000507564.1:c.3549G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3240G>T
  hgvsp: ENST00000349441.2:c.3240G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu1241Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-129238518-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238518
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238518
    reference: chr 3
allele count: 2
allele frequency: 1.650382888830209e-5
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3402A>G
  hgvsp: ENST00000347300.2:c.3402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.1988A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3249A>G
  hgvsp: ENST00000349441.2:c.3249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2623A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3732A>G
  hgvsp: ENST00000296266.3:c.3732A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3487A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3210A>G
  hgvsp: ENST00000504021.1:c.3210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3129A>G
  hgvsp: ENST00000431818.2:c.3129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2952A>G
  hgvsp: ENST00000440957.2:c.2952A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3558A>G
  hgvsp: ENST00000507564.1:c.3558A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4295A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3579A>G
  hgvsp: ENST00000348417.2:c.3579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1244Gln
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-129238525-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238525
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238525
    reference: chr 3
allele count: 2
allele frequency: 1.650546330835507e-5
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3565C>A
  hgvsp: ENSP00000425536.1:p.Arg1189Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3739C>A
  hgvsp: ENSP00000296266.3:p.Arg1247Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3217C>A
  hgvsp: ENSP00000422179.1:p.Arg1073Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3409C>A
  hgvsp: ENSP00000323973.3:p.Arg1137Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3494C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3256C>A
  hgvsp: ENSP00000324165.3:p.Arg1086Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2630C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.1995C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3136C>A
  hgvsp: ENSP00000410946.2:p.Arg1046Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4302C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2959C>A
  hgvsp: ENSP00000401569.2:p.Arg987Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3586C>A
  hgvsp: ENSP00000324005.3:p.Arg1196Ser
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1247Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-129238525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238525
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238525
    reference: chr 3
allele count: 14
allele frequency: 1.155382431584855e-4
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3565C>T
  hgvsp: ENSP00000425536.1:p.Arg1189Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3739C>T
  hgvsp: ENSP00000296266.3:p.Arg1247Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3217C>T
  hgvsp: ENSP00000422179.1:p.Arg1073Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3256C>T
  hgvsp: ENSP00000324165.3:p.Arg1086Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3409C>T
  hgvsp: ENSP00000323973.3:p.Arg1137Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.1995C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4302C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3494C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2959C>T
  hgvsp: ENSP00000401569.2:p.Arg987Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3586C>T
  hgvsp: ENSP00000324005.3:p.Arg1196Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3136C>T
  hgvsp: ENSP00000410946.2:p.Arg1046Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2630C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1247Cys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-129238533-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238533
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238533
    reference: chr 3
allele count: 8
allele frequency: 6.603929337956083e-5
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2638G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3747G>T
  hgvsp: ENST00000296266.3:c.3747G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3417G>T
  hgvsp: ENST00000347300.2:c.3417G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2003G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4310G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3264G>T
  hgvsp: ENST00000349441.2:c.3264G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3594G>T
  hgvsp: ENST00000348417.2:c.3594G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3144G>T
  hgvsp: ENST00000431818.2:c.3144G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3225G>T
  hgvsp: ENST00000504021.1:c.3225G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2967G>T
  hgvsp: ENST00000440957.2:c.2967G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3573G>T
  hgvsp: ENST00000507564.1:c.3573G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3502G>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1249Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-129238542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238542
    reference: chr 3
allele count: 4
allele frequency: 3.302782594335728e-5
allele num: 121110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2976C>T
  hgvsp: ENST00000440957.2:c.2976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3511C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3603C>T
  hgvsp: ENST00000348417.2:c.3603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3756C>T
  hgvsp: ENST00000296266.3:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3234C>T
  hgvsp: ENST00000504021.1:c.3234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3153C>T
  hgvsp: ENST00000431818.2:c.3153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3582C>T
  hgvsp: ENST00000507564.1:c.3582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3273C>T
  hgvsp: ENST00000349441.2:c.3273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2647C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2012C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4319C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3426C>T
  hgvsp: ENST00000347300.2:c.3426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1252Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

3-129238549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238549
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238549
    reference: chr 3
allele count: 6
allele frequency: 4.954746647288102e-5
allele num: 121096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2983A>G
  hgvsp: ENSP00000401569.2:p.Ile995Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3763A>G
  hgvsp: ENSP00000296266.3:p.Ile1255Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3280A>G
  hgvsp: ENSP00000324165.3:p.Ile1094Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3610A>G
  hgvsp: ENSP00000324005.3:p.Ile1204Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3518A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3589A>G
  hgvsp: ENSP00000425536.1:p.Ile1197Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4326A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2019A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3241A>G
  hgvsp: ENSP00000422179.1:p.Ile1081Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2654A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3433A>G
  hgvsp: ENSP00000323973.3:p.Ile1145Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3160A>G
  hgvsp: ENSP00000410946.2:p.Ile1054Val
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile1255Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

3-129238553-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238553
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238553
    reference: chr 3
allele count: 9
allele frequency: 7.433102081268583e-5
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3164C>G
  hgvsp: ENSP00000410946.2:p.Thr1055Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3437C>G
  hgvsp: ENSP00000323973.3:p.Thr1146Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4330C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3767C>G
  hgvsp: ENSP00000296266.3:p.Thr1256Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3284C>G
  hgvsp: ENSP00000324165.3:p.Thr1095Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3593C>G
  hgvsp: ENSP00000425536.1:p.Thr1198Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3614C>G
  hgvsp: ENSP00000324005.3:p.Thr1205Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2658C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2987C>G
  hgvsp: ENSP00000401569.2:p.Thr996Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2023C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3522C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3245C>G
  hgvsp: ENSP00000422179.1:p.Thr1082Ser
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1256Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-129238554-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238554
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238554
    reference: chr 3
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2024C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3438C>G
  hgvsp: ENST00000347300.2:c.3438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3523C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3594C>G
  hgvsp: ENST00000507564.1:c.3594C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3165C>G
  hgvsp: ENST00000431818.2:c.3165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3246C>G
  hgvsp: ENST00000504021.1:c.3246C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2659C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3615C>G
  hgvsp: ENST00000348417.2:c.3615C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3285C>G
  hgvsp: ENST00000349441.2:c.3285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3768C>G
  hgvsp: ENST00000296266.3:c.3768C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4331C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2988C>G
  hgvsp: ENST00000440957.2:c.2988C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1256Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-129238555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238555
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238555
    reference: chr 3
allele count: 7
allele frequency: 5.781301618764453e-5
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3439A>G
  hgvsp: ENSP00000323973.3:p.Met1147Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3616A>G
  hgvsp: ENSP00000324005.3:p.Met1206Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2989A>G
  hgvsp: ENSP00000401569.2:p.Met997Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2660A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3595A>G
  hgvsp: ENSP00000425536.1:p.Met1199Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3247A>G
  hgvsp: ENSP00000422179.1:p.Met1083Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2025A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3286A>G
  hgvsp: ENSP00000324165.3:p.Met1096Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3166A>G
  hgvsp: ENSP00000410946.2:p.Met1056Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4332A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3769A>G
  hgvsp: ENSP00000296266.3:p.Met1257Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3524A>G
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1257Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-129238562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238562
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238562
    reference: chr 3
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3254C>T
  hgvsp: ENSP00000422179.1:p.Pro1085Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3602C>T
  hgvsp: ENSP00000425536.1:p.Pro1201Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3623C>T
  hgvsp: ENSP00000324005.3:p.Pro1208Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.2996C>T
  hgvsp: ENSP00000401569.2:p.Pro999Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2667C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2032C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3173C>T
  hgvsp: ENSP00000410946.2:p.Pro1058Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3446C>T
  hgvsp: ENSP00000323973.3:p.Pro1149Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3293C>T
  hgvsp: ENSP00000324165.3:p.Pro1098Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3531C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3776C>T
  hgvsp: ENSP00000296266.3:p.Pro1259Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4339C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1259Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

3-129238567-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238567
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238567
    reference: chr 3
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3607T>G
  hgvsp: ENSP00000425536.1:p.Cys1203Gly
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2037T>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3298T>G
  hgvsp: ENSP00000324165.3:p.Cys1100Gly
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3536T>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2672T>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3259T>G
  hgvsp: ENSP00000422179.1:p.Cys1087Gly
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3001T>G
  hgvsp: ENSP00000401569.2:p.Cys1001Gly
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3628T>G
  hgvsp: ENSP00000324005.3:p.Cys1210Gly
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3781T>G
  hgvsp: ENSP00000296266.3:p.Cys1261Gly
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4344T>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3178T>G
  hgvsp: ENSP00000410946.2:p.Cys1060Gly
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3451T>G
  hgvsp: ENSP00000323973.3:p.Cys1151Gly
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1261Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

3-129238572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238572
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238572
    reference: chr 3
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3264C>T
  hgvsp: ENST00000504021.1:c.3264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3456C>T
  hgvsp: ENST00000347300.2:c.3456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2042C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3786C>T
  hgvsp: ENST00000296266.3:c.3786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3006C>T
  hgvsp: ENST00000440957.2:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4349C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3633C>T
  hgvsp: ENST00000348417.2:c.3633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3541C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3612C>T
  hgvsp: ENST00000507564.1:c.3612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3303C>T
  hgvsp: ENST00000349441.2:c.3303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3183C>T
  hgvsp: ENST00000431818.2:c.3183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2677C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1262Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

3-129238578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238578
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238578
    reference: chr 3
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+3A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+3A>G
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3789+3A>G
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-129238579-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238579
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238579
    reference: chr 3
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+4G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+4G>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3789+4G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

3-129238584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238584
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238584
    reference: chr 3
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+9C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+9C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-129238601-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238601
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238601
    reference: chr 3
allele count: 51
allele frequency: 4.220945822918908e-4
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+26A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+26A>G
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 17822
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-129238603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238603
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238603
    reference: chr 3
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+28G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+28G>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-129238603-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238603
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238603
    reference: chr 3
allele count: 3
allele frequency: 2.483197033407277e-5
allele num: 120812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+28G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+28G>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-129238604-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238604
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238604
    reference: chr 3
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+29T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+29T>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-129238619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238619
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238619
    reference: chr 3
allele count: 17
allele frequency: 1.408404029692471e-4
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+44C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+44C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-129238620-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238620
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238620
    reference: chr 3
allele count: 2
allele frequency: 1.657193046417977e-5
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+45T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+45T>C
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-129238621-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238621
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238621
    reference: chr 3
allele count: 2
allele frequency: 1.657357840131263e-5
allele num: 120674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+46T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+46T>C
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

3-129238624-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238624
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238624
    reference: chr 3
allele count: 3
allele frequency: 2.486077963404932e-5
allele num: 120672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+49C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+49C>G
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-129238626-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238626
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238626
    reference: chr 3
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3615+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3459+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3267+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4352+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2045+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3789+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3636+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2680+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3186+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3544+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3009+51C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3306+51C>G
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-129238979-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238979
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238979
    reference: chr 3
allele count: 6
allele frequency: 6.553795740032768e-5
allele num: 91550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616-40A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545-40A>G
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

3-129238980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238980
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238980
    reference: chr 3
allele count: 1
allele frequency: 1.09270510074741e-5
allele num: 91516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187-39C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307-39C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-129238986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238986
    reference: chr 3
allele count: 1
allele frequency: 1.081665765278529e-5
allele num: 92450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353-33C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790-33C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12466
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-129238989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238989
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238989
    reference: chr 3
allele count: 3
allele frequency: 3.225043538087764e-5
allele num: 93022
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046-30C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545-30C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14809
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15554
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-129238996-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238996
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238996
    reference: chr 3
allele count: 162
allele frequency: 1.689788254928549e-3
allele num: 95870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460-23G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187-23G>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20856
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 11962
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 1.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 4
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

3-129238997-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129238997
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129238997
    reference: chr 3
allele count: 1
allele frequency: 1.03753812952626e-5
allele num: 96382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010-22T>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790-22T>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-129239003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239003
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239003
    reference: chr 3
allele count: 2
allele frequency: 2.009242515571629e-5
allele num: 99540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353-16A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307-16A>G
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-129239009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239009
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239009
    reference: chr 3
allele count: 1
allele frequency: 9.709869110964384e-6
allele num: 102988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268-10C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307-10C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-129239012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239012
    reference: chr 3
allele count: 2
allele frequency: 1.913362926679933e-5
allele num: 104528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460-7C>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545-7C>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31673
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3790-7C>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-129239019-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239019
    reference: chr 3
allele count: 1
allele frequency: 9.310293460449874e-6
allele num: 107408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3460A>G
  hgvsp: ENSP00000323973.3:p.Met1154Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2046A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3637A>G
  hgvsp: ENSP00000324005.3:p.Met1213Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3616A>G
  hgvsp: ENSP00000425536.1:p.Met1206Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3307A>G
  hgvsp: ENSP00000324165.3:p.Met1103Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4353A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3187A>G
  hgvsp: ENSP00000410946.2:p.Met1063Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3268A>G
  hgvsp: ENSP00000422179.1:p.Met1090Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2681A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3545A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3010A>G
  hgvsp: ENSP00000401569.2:p.Met1004Val
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3790A>G
  hgvsp: ENSP00000296266.3:p.Met1264Val
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1264Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-129239020-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239020
    reference: chr 3
allele count: 17
allele frequency: 1.577814077814078e-4
allele num: 107744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3461T>C
  hgvsp: ENSP00000323973.3:p.Met1154Thr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3791T>C
  hgvsp: ENSP00000296266.3:p.Met1264Thr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3269T>C
  hgvsp: ENSP00000422179.1:p.Met1090Thr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3638T>C
  hgvsp: ENSP00000324005.3:p.Met1213Thr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2047T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3308T>C
  hgvsp: ENSP00000324165.3:p.Met1103Thr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3011T>C
  hgvsp: ENSP00000401569.2:p.Met1004Thr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3617T>C
  hgvsp: ENSP00000425536.1:p.Met1206Thr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2682T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3546T>C
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3188T>C
  hgvsp: ENSP00000410946.2:p.Met1063Thr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4354T>C
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met1264Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

3-129239024-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239024
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239024
    reference: chr 3
allele count: 1
allele frequency: 9.182905103858657e-6
allele num: 108898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4358C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3550C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3642C>G
  hgvsp: ENSP00000324005.3:p.Phe1214Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3015C>G
  hgvsp: ENSP00000401569.2:p.Phe1005Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3621C>G
  hgvsp: ENSP00000425536.1:p.Phe1207Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3795C>G
  hgvsp: ENSP00000296266.3:p.Phe1265Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2686C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3273C>G
  hgvsp: ENSP00000422179.1:p.Phe1091Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2051C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3312C>G
  hgvsp: ENSP00000324165.3:p.Phe1104Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3192C>G
  hgvsp: ENSP00000410946.2:p.Phe1064Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3465C>G
  hgvsp: ENSP00000323973.3:p.Phe1155Leu
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1265Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

3-129239036-CTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239036
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239034
    reference: chr 3
allele count: 1
allele frequency: 8.991512012660049e-6
allele num: 111216
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3809_3810delAT
  hgvsp: ENSP00000296266.3:p.Tyr1270Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3635_3636delAT
  hgvsp: ENSP00000425536.1:p.Tyr1212Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3564_*3565delAT
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2700_2701delAT
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3206_3207delAT
  hgvsp: ENSP00000410946.2:p.Tyr1069Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3287_3288delAT
  hgvsp: ENSP00000422179.1:p.Tyr1096Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3326_3327delAT
  hgvsp: ENSP00000324165.3:p.Tyr1109Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2065_2066delAT
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3479_3480delAT
  hgvsp: ENSP00000323973.3:p.Tyr1160Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3029_3030delAT
  hgvsp: ENSP00000401569.2:p.Tyr1010Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4372_4373delAT
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3656_3657delAT
  hgvsp: ENSP00000324005.3:p.Tyr1219Ter
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1270Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: CTA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-129239040-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239040
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239040
    reference: chr 3
allele count: 1
allele frequency: 8.951589802348897e-6
allele num: 111712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3289G>T
  hgvsp: ENSP00000422179.1:p.Glu1097Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2702G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3328G>T
  hgvsp: ENSP00000324165.3:p.Glu1110Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3566G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3481G>T
  hgvsp: ENSP00000323973.3:p.Glu1161Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3811G>T
  hgvsp: ENSP00000296266.3:p.Glu1271Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3208G>T
  hgvsp: ENSP00000410946.2:p.Glu1070Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3031G>T
  hgvsp: ENSP00000401569.2:p.Glu1011Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3637G>T
  hgvsp: ENSP00000425536.1:p.Glu1213Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2067G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3658G>T
  hgvsp: ENSP00000324005.3:p.Glu1220Ter
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4374G>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35552
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1271Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-129239058-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239058
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239058
    reference: chr 3
allele count: 3
allele frequency: 2.679432674788325e-5
allele num: 111964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3346C>G
  hgvsp: ENSP00000324165.3:p.His1116Asp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3049C>G
  hgvsp: ENSP00000401569.2:p.His1017Asp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3584C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3307C>G
  hgvsp: ENSP00000422179.1:p.His1103Asp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3226C>G
  hgvsp: ENSP00000410946.2:p.His1076Asp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3676C>G
  hgvsp: ENSP00000324005.3:p.His1226Asp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3499C>G
  hgvsp: ENSP00000323973.3:p.His1167Asp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3655C>G
  hgvsp: ENSP00000425536.1:p.His1219Asp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3829C>G
  hgvsp: ENSP00000296266.3:p.His1277Asp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4392C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2085C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2720C>G
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1277Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

3-129239059-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239059
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239059
    reference: chr 3
allele count: 19
allele frequency: 1.698460658287594e-4
allele num: 111866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3050A>G
  hgvsp: ENSP00000401569.2:p.His1017Arg
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3347A>G
  hgvsp: ENSP00000324165.3:p.His1116Arg
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3227A>G
  hgvsp: ENSP00000410946.2:p.His1076Arg
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3656A>G
  hgvsp: ENSP00000425536.1:p.His1219Arg
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3677A>G
  hgvsp: ENSP00000324005.3:p.His1226Arg
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4393A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3308A>G
  hgvsp: ENSP00000422179.1:p.His1103Arg
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3830A>G
  hgvsp: ENSP00000296266.3:p.His1277Arg
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3585A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2721A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2086A>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3500A>G
  hgvsp: ENSP00000323973.3:p.His1167Arg
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33542
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.His1277Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-129239061-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239061
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239061
    reference: chr 3
allele count: 2
allele frequency: 1.788332916055653e-5
allele num: 111836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3502G>T
  hgvsp: ENSP00000323973.3:p.Gly1168Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3052G>T
  hgvsp: ENSP00000401569.2:p.Gly1018Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3832G>T
  hgvsp: ENSP00000296266.3:p.Gly1278Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3310G>T
  hgvsp: ENSP00000422179.1:p.Gly1104Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3349G>T
  hgvsp: ENSP00000324165.3:p.Gly1117Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3587G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2088G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3658G>T
  hgvsp: ENSP00000425536.1:p.Gly1220Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2723G>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3679G>T
  hgvsp: ENSP00000324005.3:p.Gly1227Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3229G>T
  hgvsp: ENSP00000410946.2:p.Gly1077Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4395G>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1278Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-129239066-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239066
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239066
    reference: chr 3
allele count: 2
allele frequency: 1.838945181044153e-5
allele num: 108758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3592C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3837C>G
  hgvsp: ENSP00000296266.3:p.Cys1279Trp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3315C>G
  hgvsp: ENSP00000422179.1:p.Cys1105Trp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2728C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3234C>G
  hgvsp: ENSP00000410946.2:p.Cys1078Trp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3057C>G
  hgvsp: ENSP00000401569.2:p.Cys1019Trp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3507C>G
  hgvsp: ENSP00000323973.3:p.Cys1169Trp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3354C>G
  hgvsp: ENSP00000324165.3:p.Cys1118Trp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4400C>G
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3684C>G
  hgvsp: ENSP00000324005.3:p.Cys1228Trp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3663C>G
  hgvsp: ENSP00000425536.1:p.Cys1221Trp
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2093C>G
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1279Trp
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

3-129239069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239069
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239069
    reference: chr 3
allele count: 2
allele frequency: 1.807925947353196e-5
allele num: 110624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3060C>T
  hgvsp: ENST00000440957.2:c.3060C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4403C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3510C>T
  hgvsp: ENST00000347300.2:c.3510C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3357C>T
  hgvsp: ENST00000349441.2:c.3357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3595C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3318C>T
  hgvsp: ENST00000504021.1:c.3318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3666C>T
  hgvsp: ENST00000507564.1:c.3666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3237C>T
  hgvsp: ENST00000431818.2:c.3237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3840C>T
  hgvsp: ENST00000296266.3:c.3840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3687C>T
  hgvsp: ENST00000348417.2:c.3687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2731C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2096C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1280Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-129239077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239077
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239077
    reference: chr 3
allele count: 1
allele frequency: 9.118263882556761e-6
allele num: 109670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3695G>A
  hgvsp: ENSP00000324005.3:p.Cys1232Tyr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2104G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3245G>A
  hgvsp: ENSP00000410946.2:p.Cys1082Tyr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2739G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3365G>A
  hgvsp: ENSP00000324165.3:p.Cys1122Tyr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3848G>A
  hgvsp: ENSP00000296266.3:p.Cys1283Tyr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3674G>A
  hgvsp: ENSP00000425536.1:p.Cys1225Tyr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4411G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3518G>A
  hgvsp: ENSP00000323973.3:p.Cys1173Tyr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3603G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3326G>A
  hgvsp: ENSP00000422179.1:p.Cys1109Tyr
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3068G>A
  hgvsp: ENSP00000401569.2:p.Cys1023Tyr
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1283Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-129239079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239079
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239079
    reference: chr 3
allele count: 2
allele frequency: 1.826017091519977e-5
allele num: 109528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3328C>T
  hgvsp: ENSP00000422179.1:p.Arg1110Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3676C>T
  hgvsp: ENSP00000425536.1:p.Arg1226Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3697C>T
  hgvsp: ENSP00000324005.3:p.Arg1233Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3070C>T
  hgvsp: ENSP00000401569.2:p.Arg1024Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4413C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3605C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3850C>T
  hgvsp: ENSP00000296266.3:p.Arg1284Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3367C>T
  hgvsp: ENSP00000324165.3:p.Arg1123Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2106C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3247C>T
  hgvsp: ENSP00000410946.2:p.Arg1083Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3520C>T
  hgvsp: ENSP00000323973.3:p.Arg1174Cys
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2741C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1284Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-129239080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239080
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239080
    reference: chr 3
allele count: 25
allele frequency: 2.289796666056054e-4
allele num: 109180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3677G>A
  hgvsp: ENSP00000425536.1:p.Arg1226His
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3521G>A
  hgvsp: ENSP00000323973.3:p.Arg1174His
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3329G>A
  hgvsp: ENSP00000422179.1:p.Arg1110His
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3368G>A
  hgvsp: ENSP00000324165.3:p.Arg1123His
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3698G>A
  hgvsp: ENSP00000324005.3:p.Arg1233His
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2107G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3851G>A
  hgvsp: ENSP00000296266.3:p.Arg1284His
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3071G>A
  hgvsp: ENSP00000401569.2:p.Arg1024His
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3248G>A
  hgvsp: ENSP00000410946.2:p.Arg1083His
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4414G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2742G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3606G>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8761
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29489
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1284His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-129239091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239091
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239091
    reference: chr 3
allele count: 2
allele frequency: 1.867622889586135e-5
allele num: 107088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3688G>A
  hgvsp: ENSP00000425536.1:p.Asp1230Asn
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3379G>A
  hgvsp: ENSP00000324165.3:p.Asp1127Asn
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3340G>A
  hgvsp: ENSP00000422179.1:p.Asp1114Asn
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3532G>A
  hgvsp: ENSP00000323973.3:p.Asp1178Asn
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3082G>A
  hgvsp: ENSP00000401569.2:p.Asp1028Asn
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4425G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3259G>A
  hgvsp: ENSP00000410946.2:p.Asp1087Asn
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3617G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2753G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3709G>A
  hgvsp: ENSP00000324005.3:p.Asp1237Asn
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3862G>A
  hgvsp: ENSP00000296266.3:p.Asp1288Asn
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2118G>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1288Asn
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS

3-129239098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239098
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239098
    reference: chr 3
allele count: 1
allele frequency: 9.483527113404017e-6
allele num: 105446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3266C>T
  hgvsp: ENSP00000410946.2:p.Pro1089Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2760C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3624C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3386C>T
  hgvsp: ENSP00000324165.3:p.Pro1129Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3089C>T
  hgvsp: ENSP00000401569.2:p.Pro1030Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3539C>T
  hgvsp: ENSP00000323973.3:p.Pro1180Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3347C>T
  hgvsp: ENSP00000422179.1:p.Pro1116Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4432C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3716C>T
  hgvsp: ENSP00000324005.3:p.Pro1239Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3869C>T
  hgvsp: ENSP00000296266.3:p.Pro1290Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2125C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3695C>T
  hgvsp: ENSP00000425536.1:p.Pro1232Leu
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1290Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-129239100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239100
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239100
    reference: chr 3
allele count: 1
allele frequency: 9.519457771685325e-6
allele num: 105048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3388G>A
  hgvsp: ENSP00000324165.3:p.Gly1130Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3268G>A
  hgvsp: ENSP00000410946.2:p.Gly1090Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3091G>A
  hgvsp: ENSP00000401569.2:p.Gly1031Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3626G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3697G>A
  hgvsp: ENSP00000425536.1:p.Gly1233Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3349G>A
  hgvsp: ENSP00000422179.1:p.Gly1117Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3541G>A
  hgvsp: ENSP00000323973.3:p.Gly1181Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4434G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2127G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2762G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3718G>A
  hgvsp: ENSP00000324005.3:p.Gly1240Ser
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3871G>A
  hgvsp: ENSP00000296266.3:p.Gly1291Ser
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly1291Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-129239104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239104
    reference: chr 3
allele count: 1
allele frequency: 9.692176475149259e-6
allele num: 103176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.3545C>T
  hgvsp: ENSP00000323973.3:p.Pro1182Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.3095C>T
  hgvsp: ENSP00000401569.2:p.Pro1032Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000425536
  ensembl transcript: ENST00000507564
  gene symbol: IFT122
  hgvsc: ENST00000507564.1:c.3701C>T
  hgvsp: ENSP00000425536.1:p.Pro1234Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2131C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4438C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3630C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.3272C>T
  hgvsp: ENSP00000410946.2:p.Pro1091Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.3353C>T
  hgvsp: ENSP00000422179.1:p.Pro1118Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.3722C>T
  hgvsp: ENSP00000324005.3:p.Pro1241Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.3392C>T
  hgvsp: ENSP00000324165.3:p.Pro1131Leu
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2766C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.3875C>T
  hgvsp: ENSP00000296266.3:p.Pro1292Leu
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1292Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-129239116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239116
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239116
    reference: chr 3
allele count: 8
allele frequency: 8.066305027324608e-5
allele num: 99178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2778C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2143C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4450C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3642C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.*8C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14348
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

3-129239118-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239118
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239119
    reference: chr 3
allele count: 1
allele frequency: 1.016218852892159e-5
allele num: 98404
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2149dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.*14dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.*14dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3648dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.*14dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.*14dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2784dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.*14dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.*14dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.*14dupG
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4456dupG
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17681
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

3-129239123-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239123
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239123
    reference: chr 3
allele count: 5
allele frequency: 5.179844190286756e-5
allele num: 96528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.*15A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3649A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.*15A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4457A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.*15A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.*15A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.*15A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.*15A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.*15A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2150A>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2785A>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

3-129239124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239124
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239124
    reference: chr 3
allele count: 6
allele frequency: 6.241937497399193e-5
allele num: 96124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3650C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2786C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.*16C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2151C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4458C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20396
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

3-129239125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239125
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239125
    reference: chr 3
allele count: 7
allele frequency: 7.299574539084008e-5
allele num: 95896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2152G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4459G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.*17G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2787G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3651G>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-129239142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239142
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239142
    reference: chr 3
allele count: 2
allele frequency: 2.284043670914988e-5
allele num: 87564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3668C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.*34C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.*34C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2169C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4476C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.*34C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.*34C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.*34C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2804C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.*34C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

3-129239143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239143
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239143
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 86626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2170G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3669G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4477G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.*35G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2805G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-129239151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239151
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239151
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 82328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4485G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2813G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.*43G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2178G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.*43G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.*43G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.*43G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.*43G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.*43G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.*43G>A
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3677G>A
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15832
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-129239153-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129239153
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129239153
    reference: chr 3
allele count: 3
allele frequency: 3.746534455628543e-5
allele num: 80074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000401569
  ensembl transcript: ENST00000440957
  gene symbol: IFT122
  hgvsc: ENST00000440957.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324165
  ensembl transcript: ENST00000349441
  gene symbol: IFT122
  hgvsc: ENST00000349441.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000421953
  ensembl transcript: ENST00000512220
  gene symbol: IFT122
  hgvsc: ENST00000512220.1:c.*3679C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000422179
  ensembl transcript: ENST00000504021
  gene symbol: IFT122
  hgvsc: ENST00000504021.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000323973
  ensembl transcript: ENST00000347300
  gene symbol: IFT122
  hgvsc: ENST00000347300.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000410946
  ensembl transcript: ENST00000431818
  gene symbol: IFT122
  hgvsc: ENST00000431818.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000513190
  gene symbol: IFT122
  hgvsc: ENST00000513190.1:n.2815C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000506507
  gene symbol: IFT122
  hgvsc: ENST00000506507.1:n.4487C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163913
  ensembl transcript: ENST00000511425
  gene symbol: IFT122
  hgvsc: ENST00000511425.1:n.2180C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000296266
  ensembl transcript: ENST00000296266
  gene symbol: IFT122
  hgvsc: ENST00000296266.3:c.*45C>T
  variant of: http://identifiers.org/hgnc/13556
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163913
  ensembl protein: ENSP00000324005
  ensembl transcript: ENST00000348417
  gene symbol: IFT122
  hgvsc: ENST00000348417.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/13556
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16767
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-129247526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129247526
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129247526
    reference: chr 3
allele count: 7623
allele frequency: 6.409652736904062e-2
allele num: 118930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163914
  ensembl protein: ENSP00000296271
  ensembl transcript: ENST00000296271
  gene symbol: RHO
  hgvsc: ENST00000296271.3:c.-51G>A
  variant of: http://identifiers.org/hgnc/10012
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 2.25e1
  variant carriers: 1593
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.75e1
  variant carriers: 1476
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.75e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 1.75e1
  variant carriers: 1179
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 3.25e1
  variant carriers: 898
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 4.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 4.25e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 1.25e1
  variant carriers: 512
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 8066
  bin: 6.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 5.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 7.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 4.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 6.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 3.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 8.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 18051
  bin: 9.75e1
  variant carriers: 5658
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 7.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 5.25e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 9.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 8.75e1
  variant carriers: 53
num of homozygotes: 978
population: Latino
  type: Population
  allele count: 1798
  allele frequency: 1.579964850615114e-1
  allele num: 11380
  num of homozygotes: 131
population: South Asian
  type: Population
  allele count: 355
  allele frequency: 2.172848573876851e-2
  allele num: 16338
  num of homozygotes: 8
population: Other
  type: Population
  allele count: 37
  allele frequency: 4.233409610983982e-2
  allele num: 874
  num of homozygotes: 2
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

3-129247541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129247541
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129247541
    reference: chr 3
allele count: 1
allele frequency: 8.367360599772408e-6
allele num: 119512
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163914
  ensembl protein: ENSP00000296271
  ensembl transcript: ENST00000296271
  gene symbol: RHO
  hgvsc: ENST00000296271.3:c.-36G>A
  variant of: http://identifiers.org/hgnc/10012
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.716875871687587e-5
  allele num: 11472
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16392
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 880
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

3-129247542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 129247542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 129247542
    reference: chr 3
allele count: 1
allele frequency: 8.361483661660925e-6
allele num: 119596
alternate allele: A
canonical: true
consequence: 5' UTR
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 524
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 772
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18793
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13342
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4323
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 2.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.94296e6

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 1.264e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.97e-1

GenotypeDepth
all individuals: 772
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1940
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18399
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4724
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8040
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4323
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13342
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 1.94296e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

GenotypeDepth
all individuals: 5069
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1464
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13356
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4324
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5750
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2936
bin: 9.25e1
variant carriers: 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: 66610
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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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

Latino
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num of homozygotes: 0

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

South Asian
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East Asian
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African
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Latino
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European (Non-Finnish)
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Other
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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MQ
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GenotypeDepth
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variant carriers: 8

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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num of homozygotes: 0

European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 2.401825387294344e-4
allele num: 66616
num of homozygotes: 0

Latino
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Other
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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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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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Latino
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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FS
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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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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African
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Other
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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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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Other
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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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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African
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Latino
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East Asian
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele 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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VQSLOD
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QD
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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SIO_000300: 1.945712e6

ClippingRankSum
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variant carriers: 0

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 frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.506399086703119e-5
allele num: 66572
num of homozygotes: 0

Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 3.635041802980734e-4
allele num: 16506
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10324
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European (Non-Finnish)
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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SIO_000300: 1.944781e6

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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: 9.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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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
allele num: 66546
num of homozygotes: 0

South Asian
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allele frequency: 5.452562704471102e-4
allele num: 16506
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FS
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SIO_000300: 1.75e0

BaseQRankSum
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QD
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ClippingRankSum
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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East Asian
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Other
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Latino
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BaseQRankSum
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FS
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MQ
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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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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Latino
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allele frequency: 6.058507876060239e-4
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
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Other
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African
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South Asian
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East Asian
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European (Finnish)
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MQRankSum
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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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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European (Non-Finnish)
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allele num: 66506
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African
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European (Finnish)
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East Asian
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Other
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Latino
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South Asian
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MQ
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 902
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: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQRankSum
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SIO_000300: -1.634e0

QD
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SIO_000300: 1.384e1

VQSLOD
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SIO_000300: -4.626e-1

ClippingRankSum
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SIO_000300: 1.42e0

MQ
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SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-1

DP
type: SiteQuality
SIO_000300: 1.943101e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

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
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

FS
type: SiteQuality
SIO_000300: 4.088e0

MQ
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SIO_000300: 5.944e1

BaseQRankSum
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SIO_000300: -6.664e0

ClippingRankSum
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SIO_000300: -1.307e0

InbreedingCoeff
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SIO_000300: 1.8e-3

VQSLOD
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DP
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MQRankSum
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SIO_000300: -2.41e-1

QD
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SIO_000300: 1.238e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10296
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: 16504
num of homozygotes: 0

Other
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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
allele num: 6614
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
allele num: 66448
num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -1.08e-1

MQRankSum
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DP
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FS
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SIO_000300: 6.528e0

ClippingRankSum
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SIO_000300: 4.6e-2

ReadPosRankSum
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SIO_000300: 1.57e0

VQSLOD
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SIO_000300: -1.099e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

MQ
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SIO_000300: 5.953e1

MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 1.5e-3

ReadPosRankSum
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SIO_000300: 1.92e0

VQSLOD
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SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 2.131e0

QD
type: SiteQuality
SIO_000300: 1.193e1

BaseQRankSum
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SIO_000300: 1.14e0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Latino
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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
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BaseQRankSum
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SIO_000300: -3.194e0

ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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SIO_000300: 5.958e1

InbreedingCoeff
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SIO_000300: 1.3e-3

QD
type: SiteQuality
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GenotypeDepth
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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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GenotypeQuality
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variant carriers: 50

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 45
allele frequency: 5.221629148294268e-3
allele num: 8618
num of homozygotes: 0

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

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

Latino
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allele frequency: 2.598302442404296e-4
allele num: 11546
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

South Asian
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allele num: 16492
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ReadPosRankSum
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SIO_000300: 3.67e-1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506432466632521e-5
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num of homozygotes: 0

Other
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African
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East Asian
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Latino
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South Asian
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MQ
type: SiteQuality
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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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: 2361
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.480278422273782e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
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SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 1.93951e6

QD
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InbreedingCoeff
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SIO_000300: 6.3e-3

MQRankSum
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SIO_000300: -6.0e-2

BaseQRankSum
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SIO_000300: -4.414e0

FS
type: SiteQuality
SIO_000300: 6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

GenotypeDepth
all individuals: 785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.742790335151988e-5
allele num: 10264
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

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

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

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

ClippingRankSum
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SIO_000300: 1.97e0

MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -1.5e0

QD
type: SiteQuality
SIO_000300: 7.72e0

MQ
type: SiteQuality
SIO_000300: 5.859e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

South Asian
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allele count: 17
allele frequency: 1.031177969185976e-3
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.936859e6

QD
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SIO_000300: 1.364e1

InbreedingCoeff
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SIO_000300: 4.3e-3

FS
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MQRankSum
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SIO_000300: -2.92e-1

VQSLOD
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SIO_000300: 1.23e0

BaseQRankSum
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SIO_000300: -4.976e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 249
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.951981260979895e-4
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 8.91e-1

DP
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SIO_000300: 1.936573e6

MQRankSum
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SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.62e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.213297743266198e-4
allele num: 16484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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SIO_000300: 1.29e0

InbreedingCoeff
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SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.936451e6

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.483511379470506e-4
allele num: 8612
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.963e1

DP
type: SiteQuality
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ClippingRankSum
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
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Other
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allele count: 0
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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QD
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BaseQRankSum
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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: 7993
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variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.513314277117497e-4
allele num: 13294
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3944
num of homozygotes: 0

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

East Asian
type: Population
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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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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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.676e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 1.290013e6

VQSLOD
type: SiteQuality
SIO_000300: -2.229e0

QD
type: SiteQuality
SIO_000300: 2.273e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

GenotypeDepth
all individuals: 513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.968426439903941e-5
allele num: 50802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.294346e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.241e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.118e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.879e0

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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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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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.948254364089776e-5
allele num: 51328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.429e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

DP
type: SiteQuality
SIO_000300: 1.329037e6

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

GenotypeDepth
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 6925
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 4365
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.810800340900286e-5
allele num: 51628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13410
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 1.352356e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

GenotypeDepth
all individuals: 343
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 306
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 2894
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variant carriers: 2

GenotypeQuality
all individuals: 841
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variant carriers: 0

GenotypeQuality
all individuals: 557
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12285
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2249
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 555
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GenotypeQuality
all individuals: 6253
bin: 9.75e1
variant carriers: 149

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 103
allele frequency: 2.432687765706188e-2
allele num: 4234
num of homozygotes: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 1.05057781779979e-3
allele num: 53304
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.322766570605188e-3
allele num: 694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

QD
type: SiteQuality
SIO_000300: 1.3e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.422616e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 819
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.865532422953511e-5
allele num: 53604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 2.527e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.430476e6

GenotypeDepth
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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
all individuals: 6108
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 531
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.445504481063891e-4
allele num: 13836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
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SIO_000300: 9.61e-1

QD
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DP
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SIO_000300: 1.48977e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 350
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2291
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 426
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variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.73816310922617e-5
allele num: 57532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14040
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.94e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
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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: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4682
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.066139061616732e-5
allele num: 14152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.711156741957563e-5
allele num: 58440
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.4e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.107174490699734e-4
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60062
num of homozygotes: 0

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

Other
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VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
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SIO_000300: -1.4e-3

BaseQRankSum
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DP
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SIO_000300: 1.604004e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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SIO_000300: 4.772e0

MQRankSum
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SIO_000300: -1.51e-1

ReadPosRankSum
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SIO_000300: 1.2e-2

ClippingRankSum
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SIO_000300: 2.9e-1

QD
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SIO_000300: 9.77e0

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: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.838646202282565e-5
allele num: 10164
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: 16
allele frequency: 1.764835649680123e-3
allele num: 9066
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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 3.6e0

ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
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SIO_000300: 1.42e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeDepth
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variant carriers: 0

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: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.642090052218464e-5
allele num: 60898
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: 0.0e0
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num of homozygotes: 0

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

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 frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10586
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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allele num: 9272
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European (Non-Finnish)
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Other
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 62472
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (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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East Asian
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Other
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South Asian
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allele count: 3
allele frequency: 1.996007984031936e-4
allele num: 15030
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.175e-1

DP
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SIO_000300: 1.662615e6

BaseQRankSum
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SIO_000300: -1.118e0

FS
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SIO_000300: 4.951e0

MQRankSum
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SIO_000300: 1.6e0

QD
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SIO_000300: 1.556e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

GenotypeDepth
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variant carriers: 0

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: 19

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

Latino
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allele count: 19
allele frequency: 1.772388059701493e-3
allele num: 10720
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15018
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62540
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.661641e6

MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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SIO_000300: 1.148e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ReadPosRankSum
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SIO_000300: 2.22e-1

GenotypeDepth
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variant carriers: 0

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: 15012
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.198771671678076e-5
allele num: 62524
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10708
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
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DP
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SIO_000300: 1.659438e6

VQSLOD
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FS
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SIO_000300: 1.189e0

MQ
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SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

QD
type: SiteQuality
SIO_000300: 9.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

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: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.121579183490354e-4
allele num: 8916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.645711276413666e-5
allele num: 60764
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.06985e2

ClippingRankSum
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SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -5.2e-3

DP
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BaseQRankSum
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SIO_000300: -3.032e0

VQSLOD
type: SiteQuality
SIO_000300: -7.594e2

QD
type: SiteQuality
SIO_000300: 9.1e-1

GenotypeDepth
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variant carriers: 0

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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
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: 1
allele frequency: 1.208313194780087e-4
allele num: 8276
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.706908115358819e-5
allele num: 14910
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -2.146e0

MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5098
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 61328
num of homozygotes: 0

Latino
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African
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East Asian
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allele frequency: 1.217730150998539e-4
allele num: 8212
num of homozygotes: 0

South Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.265626020508131e-5
allele num: 61244
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Other
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East Asian
type: Population
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allele frequency: 0.0e0
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Latino
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African
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South Asian
type: Population
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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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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Latino
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.604312067892133e-4
allele num: 61038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.970831690973591e-4
allele num: 5074
num of homozygotes: 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 count: 1
allele frequency: 6.772314777190844e-5
allele num: 14766
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9020
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
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BaseQRankSum
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SIO_000300: -9.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.606754e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeDepth
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variant carriers: 0

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: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14594
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.344034242910647e-5
allele num: 59808
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8914
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQRankSum
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SIO_000300: -1.97e-1

BaseQRankSum
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SIO_000300: -2.952e0

InbreedingCoeff
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SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.56876e6

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 2.095e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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: 3.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.898454746136865e-5
allele num: 14496
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58830
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4834
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.41e0

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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BaseQRankSum
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SIO_000300: -3.851e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.37e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.134816159782115e-4
allele num: 8812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14486
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.597e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.531078e6

FS
type: SiteQuality
SIO_000300: 1.2972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

QD
type: SiteQuality
SIO_000300: 1.204e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14362
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.739917179942235e-5
allele num: 57474
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele num: 720
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQ
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QD
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8858
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.450168582097669e-4
allele num: 55166
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 8742
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
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num of homozygotes: 0

African
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Other
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South Asian
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European (Finnish)
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
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: 5
allele frequency: 5.869922517022776e-4
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53576
num of homozygotes: 0

South Asian
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Other
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MQ
type: SiteQuality
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DP
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VQSLOD
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SIO_000300: -1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

FS
type: SiteQuality
SIO_000300: 1.2503e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 6

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

South Asian
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allele frequency: 0.0e0
allele num: 13862
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

African
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allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4316
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.180916391119509e-4
allele num: 8468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 9.372071227741331e-5
allele num: 53350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.326138e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13832
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.316234816291226e-4
allele num: 53182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

DP
type: SiteQuality
SIO_000300: 1.324609e6

FS
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 1.318e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1019
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GenotypeQuality
all individuals: 5504
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.074602713580349e-5
allele num: 48202
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.218e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.204574e6

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1010
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7126
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

QD
type: SiteQuality
SIO_000300: 1.372e1

DP
type: SiteQuality
SIO_000300: 1.199216e6

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 602
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12910
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44910
num of homozygotes: 0

East Asian
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allele num: 6288
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.897503103876396e-5
allele num: 43494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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Other
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 6198
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MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

DP
type: SiteQuality
SIO_000300: 1.153014e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 2.684e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.534e1

East Asian
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allele count: 3285
allele frequency: 3.924731182795699e-1
allele num: 8370
num of homozygotes: 651

European (Non-Finnish)
type: Population
allele count: 304
allele frequency: 4.624136777098354e-3
allele num: 65742
num of homozygotes: 1

European (Finnish)
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allele count: 27
allele frequency: 4.162812210915819e-3
allele num: 6486
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African
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allele count: 1817
allele frequency: 1.865503080082135e-1
allele num: 9740
num of homozygotes: 185

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

DP
type: SiteQuality
SIO_000300: 1.774222e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 2.192e0

QD
type: SiteQuality
SIO_000300: 1.623e1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.098e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
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African
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.034e0

VQSLOD
type: SiteQuality
SIO_000300: -2.944e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.115e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

QD
type: SiteQuality
SIO_000300: 3.15e0

DP
type: SiteQuality
SIO_000300: 1.80992e6