http://identifiers.org/exac.variant/17-57951993-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57951993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57951993
    reference: chr 17
allele count: 5
allele frequency: 4.126297720633139e-5
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.193T>G
  hgvsp: ENSP00000441757.1:p.Ser65Ala
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3471T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3471T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7883T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.732T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.841T>G
  hgvsp: ENSP00000377785.3:p.Ser281Ala
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.841T>G
  hgvsp: ENSP00000320797.3:p.Ser281Ala
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7883T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.841T>G
  hgvsp: ENSP00000468518.1:p.Ser281Ala
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3471T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3471T>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser281Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-57951996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57951996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57951996
    reference: chr 17
allele count: 2
allele frequency: 1.650955077512341e-5
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.838A>G
  hgvsp: ENSP00000377785.3:p.Met280Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.838A>G
  hgvsp: ENSP00000468518.1:p.Met280Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3468A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.190A>G
  hgvsp: ENSP00000441757.1:p.Met64Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3468A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.729A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7886A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7886A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.838A>G
  hgvsp: ENSP00000320797.3:p.Met280Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3468A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3468A>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14106
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met280Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-57952002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952002
    reference: chr 17
allele count: 2
allele frequency: 1.65174589541145e-5
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3462C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3462C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.832C>T
  hgvsp: ENSP00000320797.3:p.Pro278Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.832C>T
  hgvsp: ENSP00000377785.3:p.Pro278Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.184C>T
  hgvsp: ENSP00000441757.1:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.832C>T
  hgvsp: ENSP00000468518.1:p.Pro278Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3462C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3462C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7892C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7892C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.723C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro278Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-57952002-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952002
    reference: chr 17
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3462C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.832C>G
  hgvsp: ENSP00000468518.1:p.Pro278Ala
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.723C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3462C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.832C>G
  hgvsp: ENSP00000320797.3:p.Pro278Ala
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7892C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.832C>G
  hgvsp: ENSP00000377785.3:p.Pro278Ala
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.184C>G
  hgvsp: ENSP00000441757.1:p.Pro62Ala
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3462C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3462C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7892C>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro278Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-57952005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952005
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952005
    reference: chr 17
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.829A>G
  hgvsp: ENSP00000468518.1:p.Ile277Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3459A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7895A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3459A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.829A>G
  hgvsp: ENSP00000377785.3:p.Ile277Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3459A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.829A>G
  hgvsp: ENSP00000320797.3:p.Ile277Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7895A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.181A>G
  hgvsp: ENSP00000441757.1:p.Ile61Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3459A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.720A>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile277Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-57952010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952010
    reference: chr 17
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7900G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.824G>A
  hgvsp: ENSP00000468518.1:p.Arg275His
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.824G>A
  hgvsp: ENSP00000320797.3:p.Arg275His
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.824G>A
  hgvsp: ENSP00000377785.3:p.Arg275His
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7900G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3454G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3454G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3454G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3454G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.715G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.176G>A
  hgvsp: ENSP00000441757.1:p.Arg59His
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg275His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-57952011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952011
    reference: chr 17
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3453C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.823C>T
  hgvsp: ENSP00000320797.3:p.Arg275Cys
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.823C>T
  hgvsp: ENSP00000468518.1:p.Arg275Cys
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.714C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7901C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3453C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.175C>T
  hgvsp: ENSP00000441757.1:p.Arg59Cys
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3453C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.823C>T
  hgvsp: ENSP00000377785.3:p.Arg275Cys
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7901C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3453C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg275Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

17-57952018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952018
    reference: chr 17
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.816G>A
  hgvsp: ENST00000592426.1:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.707G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.168G>A
  hgvsp: ENST00000539018.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7908G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3446G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3446G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.816G>A
  hgvsp: ENST00000394239.3:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3446G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.816G>A
  hgvsp: ENST00000325752.3:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3446G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7908G>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu272Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-57952031-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952031
    reference: chr 17
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.694A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.803A>T
  hgvsp: ENSP00000377785.3:p.Glu268Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3433A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.803A>T
  hgvsp: ENSP00000320797.3:p.Glu268Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.155A>T
  hgvsp: ENSP00000441757.1:p.Glu52Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3433A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3433A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.803A>T
  hgvsp: ENSP00000468518.1:p.Glu268Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3433A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7921A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7921A>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu268Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

17-57952038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952038
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952038
    reference: chr 17
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7928C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.796C>T
  hgvsp: ENSP00000320797.3:p.His266Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.687C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3426C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.796C>T
  hgvsp: ENSP00000468518.1:p.His266Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7928C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.796C>T
  hgvsp: ENSP00000377785.3:p.His266Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3426C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.148C>T
  hgvsp: ENSP00000441757.1:p.His50Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3426C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3426C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His266Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

17-57952045-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952045
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952045
    reference: chr 17
allele count: 8
allele frequency: 6.629980773055758e-5
allele num: 120664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3419A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.141A>G
  hgvsp: ENST00000539018.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7935A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.789A>G
  hgvsp: ENST00000394239.3:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3419A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.789A>G
  hgvsp: ENST00000592426.1:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3419A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.789A>G
  hgvsp: ENST00000325752.3:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.680A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7935A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3419A>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu263Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-57952060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952060
    reference: chr 17
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3404C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7950C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.126C>T
  hgvsp: ENST00000539018.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3404C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3404C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.774C>T
  hgvsp: ENST00000592426.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.665C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.774C>T
  hgvsp: ENST00000394239.3:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7950C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.774C>T
  hgvsp: ENST00000325752.3:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3404C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp258Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-57952060-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952060
    reference: chr 17
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7950C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.126C>G
  hgvsp: ENSP00000441757.1:p.Asp42Glu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3404C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.774C>G
  hgvsp: ENSP00000468518.1:p.Asp258Glu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.665C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3404C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.774C>G
  hgvsp: ENSP00000320797.3:p.Asp258Glu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7950C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3404C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3404C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.774C>G
  hgvsp: ENSP00000377785.3:p.Asp258Glu
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp258Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

17-57952066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952066
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952066
    reference: chr 17
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-2A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7956A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-2A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-2A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3398A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-2A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-2A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3398A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7956A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3398A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3398A>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7535
  bin: 6.75e1
  variant carriers: 0
hgvs: c.770-2A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

17-57952071-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952071
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952071
    reference: chr 17
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3393T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3393T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-7T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-7T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7961T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-7T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7961T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3393T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-7T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-7T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3393T>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.770-7T>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-57952072-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952072
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952073
    reference: chr 17
allele count: 6
allele frequency: 5.034739703957305e-5
allele num: 119172
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3391dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3391dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3391dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3391dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7963dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-9dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7963dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-9dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-9dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-9dupT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-9dupT
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-57952072-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952072
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952071
    reference: chr 17
allele count: 10
allele frequency: 8.391232839928843e-5
allele num: 119172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3391delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3391delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-9delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-9delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7963delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-9delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3391delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-9delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7963delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3391delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-9delT
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: GA
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-57952073-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952073
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952073
    reference: chr 17
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-9T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3391T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3391T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3391T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-9T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-9T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7963T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-9T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-9T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7963T>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3391T>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-57952088-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952088
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952088
    reference: chr 17
allele count: 19
allele frequency: 1.607281832639664e-4
allele num: 118212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3376G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-24G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-24G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3376G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7978G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-24G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-24G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-24G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7978G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3376G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3376G>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

17-57952090-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952090
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952090
    reference: chr 17
allele count: 2
allele frequency: 1.693508780843029e-5
allele num: 118098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-26T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-26T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3374T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7980T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-26T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7980T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3374T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-26T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3374T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3374T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-26T>C
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-57952091-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952090
    reference: chr 17
allele count: 16
allele frequency: 1.365490637854814e-4
allele num: 117174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7982delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3372delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-28delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3372delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3372delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-28delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7982delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-28delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-28delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3372delA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-28delA
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13190
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: AT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-57952091-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952092
    reference: chr 17
allele count: 5
allele frequency: 4.267158243296294e-5
allele num: 117174
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-28dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-28dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3372dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3372dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-28dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7982dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3372dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-28dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-28dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7982dupA
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3372dupA
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

17-57952091-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952091
    reference: chr 17
allele count: 9
allele frequency: 7.68088483793333e-5
allele num: 117174
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13190
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16996
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64550
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11352
  num of homozygotes: 0
population: African
  type: Population
  allele count: 9
  allele frequency: 9.73393900064893e-4
  allele num: 9246
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 872
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-57952104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952104
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952104
    reference: chr 17
allele count: 1
allele frequency: 8.542335816305611e-6
allele num: 117064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-40G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-40G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3360G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3360G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7994G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-40G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7994G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-40G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-40G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3360G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3360G>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ

17-57952107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57952107
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57952107
    reference: chr 17
allele count: 1
allele frequency: 8.563403439062821e-6
allele num: 116776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.120-7997G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+3357G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.122-43G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-7997G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+3357G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+3357G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.661-43G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+3357G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.770-43G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.770-43G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.770-43G>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9646
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

17-57955441-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955441
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955441
    reference: chr 17
allele count: 1
allele frequency: 8.556515786771626e-6
allele num: 116870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+23A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.769+23A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+8003A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.769+23A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+23A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+23A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11331A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.769+23A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.121+23A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+23A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.660+23A>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

17-57955446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955446
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955446
    reference: chr 17
allele count: 2
allele frequency: 1.690217023865864e-5
allele num: 118328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.769+18C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+18C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11336C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+18C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7998C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+18C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.769+18C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.121+18C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.660+18C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+18C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.769+18C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-57955452-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955452
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955452
    reference: chr 17
allele count: 3
allele frequency: 2.509452270217821e-5
allele num: 119548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+12T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.660+12T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+12T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11342T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.769+12T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.121+12T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.769+12T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+12T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7992T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.769+12T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+12T>C
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-57955455-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955455
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955455
    reference: chr 17
allele count: 1
allele frequency: 8.342510094437214e-6
allele num: 119868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.121+9C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+9C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.769+9C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+9C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+9C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7989C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.660+9C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.769+9C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+9C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.769+9C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11345C>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-57955459-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955459
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955459
    reference: chr 17
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*487+5T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11349T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.769+5T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.121+5T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.769+5T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.769+5T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.660+5T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.487+5T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.769+5T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.769+5T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7985T>C
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.769+5T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-57955467-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955467
    reference: chr 17
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.766C>G
  hgvsp: ENSP00000365262.4:p.Leu256Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*484C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.766C>G
  hgvsp: ENSP00000377785.3:p.Leu256Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.766C>G
  hgvsp: ENSP00000468518.1:p.Leu256Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.766C>G
  hgvsp: ENSP00000342399.5:p.Leu256Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.118C>G
  hgvsp: ENSP00000441757.1:p.Leu40Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.484C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7977C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.657C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.766C>G
  hgvsp: ENSP00000320797.3:p.Leu256Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11357C>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu256Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-57955468-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955468
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955468
    reference: chr 17
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.765A>C
  hgvsp: ENST00000376094.4:c.765A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.765A>C
  hgvsp: ENST00000325752.3:c.765A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.765A>C
  hgvsp: ENST00000394239.3:c.765A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.765A>C
  hgvsp: ENST00000340993.6:c.765A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.483A>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.656A>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7976A>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11358A>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*483A>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.117A>C
  hgvsp: ENST00000539018.1:c.117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.765A>C
  hgvsp: ENST00000592426.1:c.765A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro255Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

17-57955476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955476
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955476
    reference: chr 17
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7968C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.109C>T
  hgvsp: ENSP00000441757.1:p.Arg37Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.757C>T
  hgvsp: ENSP00000320797.3:p.Arg253Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.757C>T
  hgvsp: ENSP00000365262.4:p.Arg253Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11366C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*475C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.757C>T
  hgvsp: ENSP00000377785.3:p.Arg253Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.757C>T
  hgvsp: ENSP00000342399.5:p.Arg253Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.475C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.648C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.757C>T
  hgvsp: ENSP00000468518.1:p.Arg253Ter
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg253Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-57955485-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955485
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955485
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.748C>A
  hgvsp: ENSP00000320797.3:p.His250Asn
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11375C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.748C>A
  hgvsp: ENSP00000365262.4:p.His250Asn
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*466C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.466C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.748C>A
  hgvsp: ENSP00000342399.5:p.His250Asn
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.639C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.100C>A
  hgvsp: ENSP00000441757.1:p.His34Asn
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.748C>A
  hgvsp: ENSP00000377785.3:p.His250Asn
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7959C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.748C>A
  hgvsp: ENSP00000468518.1:p.His250Asn
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His250Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

17-57955489-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955489
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955489
    reference: chr 17
allele count: 10
allele frequency: 8.241984669908514e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.744A>C
  hgvsp: ENST00000376094.4:c.744A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.635A>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*462A>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.744A>C
  hgvsp: ENST00000394239.3:c.744A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.462A>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.744A>C
  hgvsp: ENST00000592426.1:c.744A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11379A>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.744A>C
  hgvsp: ENST00000340993.6:c.744A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.96A>C
  hgvsp: ENST00000539018.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.744A>C
  hgvsp: ENST00000325752.3:c.744A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7955A>C
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser248Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-57955500-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955500
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955500
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.733G>T
  hgvsp: ENSP00000342399.5:p.Ala245Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.85G>T
  hgvsp: ENSP00000441757.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.624G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7944G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*451G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.733G>T
  hgvsp: ENSP00000377785.3:p.Ala245Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.733G>T
  hgvsp: ENSP00000365262.4:p.Ala245Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.733G>T
  hgvsp: ENSP00000320797.3:p.Ala245Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.451G>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.733G>T
  hgvsp: ENSP00000468518.1:p.Ala245Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11390G>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala245Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-57955500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955500
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955500
    reference: chr 17
allele count: 8
allele frequency: 6.590654451987082e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.733G>A
  hgvsp: ENSP00000377785.3:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*451G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.85G>A
  hgvsp: ENSP00000441757.1:p.Ala29Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.733G>A
  hgvsp: ENSP00000365262.4:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.624G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.733G>A
  hgvsp: ENSP00000342399.5:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.451G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7944G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.733G>A
  hgvsp: ENSP00000320797.3:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11390G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.733G>A
  hgvsp: ENSP00000468518.1:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala245Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

17-57955521-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955521
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955521
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.603G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.712G>C
  hgvsp: ENSP00000342399.5:p.Val238Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.712G>C
  hgvsp: ENSP00000320797.3:p.Val238Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.712G>C
  hgvsp: ENSP00000377785.3:p.Val238Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.430G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.64G>C
  hgvsp: ENSP00000441757.1:p.Val22Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*430G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.712G>C
  hgvsp: ENSP00000468518.1:p.Val238Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.712G>C
  hgvsp: ENSP00000365262.4:p.Val238Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11411G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7923G>C
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val238Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-57955522-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955522
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955522
    reference: chr 17
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.711T>C
  hgvsp: ENST00000394239.3:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.63T>C
  hgvsp: ENST00000539018.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.711T>C
  hgvsp: ENST00000325752.3:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.429T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11412T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*429T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.711T>C
  hgvsp: ENST00000376094.4:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.602T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.711T>C
  hgvsp: ENST00000340993.6:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.711T>C
  hgvsp: ENST00000592426.1:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7922T>C
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser237Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-57955535-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955535
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955535
    reference: chr 17
allele count: 11
allele frequency: 9.060209208467177e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.698A>T
  hgvsp: ENSP00000377785.3:p.His233Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.50A>T
  hgvsp: ENSP00000441757.1:p.His17Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.698A>T
  hgvsp: ENSP00000320797.3:p.His233Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.698A>T
  hgvsp: ENSP00000468518.1:p.His233Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*416A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.698A>T
  hgvsp: ENSP00000365262.4:p.His233Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.589A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7909A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.698A>T
  hgvsp: ENSP00000342399.5:p.His233Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11425A>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.416A>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His233Leu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-57955536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955536
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955536
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7908C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.49C>T
  hgvsp: ENSP00000441757.1:p.His17Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.697C>T
  hgvsp: ENSP00000320797.3:p.His233Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.697C>T
  hgvsp: ENSP00000365262.4:p.His233Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.697C>T
  hgvsp: ENSP00000342399.5:p.His233Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.588C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*415C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.697C>T
  hgvsp: ENSP00000468518.1:p.His233Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.697C>T
  hgvsp: ENSP00000377785.3:p.His233Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11426C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.415C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His233Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-57955539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955539
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955539
    reference: chr 17
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.585G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.694G>A
  hgvsp: ENSP00000377785.3:p.Ala232Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.694G>A
  hgvsp: ENSP00000342399.5:p.Ala232Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.694G>A
  hgvsp: ENSP00000320797.3:p.Ala232Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.694G>A
  hgvsp: ENSP00000365262.4:p.Ala232Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.46G>A
  hgvsp: ENSP00000441757.1:p.Ala16Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11429G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.694G>A
  hgvsp: ENSP00000468518.1:p.Ala232Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*412G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.412G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7905G>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala232Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-57955540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955540
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955540
    reference: chr 17
allele count: 17
allele frequency: 1.400214150399473e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.693C>T
  hgvsp: ENST00000376094.4:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.45C>T
  hgvsp: ENST00000539018.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.411C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.584C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.693C>T
  hgvsp: ENST00000340993.6:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11430C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7904C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*411C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.693C>T
  hgvsp: ENST00000394239.3:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.693C>T
  hgvsp: ENST00000325752.3:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.693C>T
  hgvsp: ENST00000592426.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu231Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-57955553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955553
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955553
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*398T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11443T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.680T>C
  hgvsp: ENSP00000320797.3:p.Ile227Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.680T>C
  hgvsp: ENSP00000342399.5:p.Ile227Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.680T>C
  hgvsp: ENSP00000468518.1:p.Ile227Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.680T>C
  hgvsp: ENSP00000365262.4:p.Ile227Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.680T>C
  hgvsp: ENSP00000377785.3:p.Ile227Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.571T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.398T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.32T>C
  hgvsp: ENSP00000441757.1:p.Ile11Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7891T>C
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile227Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-57955560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955560
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955560
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.25A>G
  hgvsp: ENSP00000441757.1:p.Ser9Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.564A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.673A>G
  hgvsp: ENSP00000320797.3:p.Ser225Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11450A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.673A>G
  hgvsp: ENSP00000342399.5:p.Ser225Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.673A>G
  hgvsp: ENSP00000365262.4:p.Ser225Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.673A>G
  hgvsp: ENSP00000377785.3:p.Ser225Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*391A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.673A>G
  hgvsp: ENSP00000468518.1:p.Ser225Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7884A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.391A>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser225Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-57955567-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955567
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11457C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.666C>A
  hgvsp: ENST00000325752.3:c.666C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.666C>A
  hgvsp: ENST00000394239.3:c.666C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7877C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.18C>A
  hgvsp: ENST00000539018.1:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.666C>A
  hgvsp: ENST00000592426.1:c.666C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.666C>A
  hgvsp: ENST00000376094.4:c.666C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.557C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.384C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.666C>A
  hgvsp: ENST00000340993.6:c.666C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*384C>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile222Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-57955568-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955568
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955568
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*383T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.665T>G
  hgvsp: ENSP00000365262.4:p.Ile222Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.665T>G
  hgvsp: ENSP00000468518.1:p.Ile222Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.383T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.665T>G
  hgvsp: ENSP00000320797.3:p.Ile222Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.17T>G
  hgvsp: ENSP00000441757.1:p.Ile6Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.556T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.665T>G
  hgvsp: ENSP00000377785.3:p.Ile222Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.665T>G
  hgvsp: ENSP00000342399.5:p.Ile222Ser
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11458T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7876T>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile222Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-57955576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955576
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.657C>T
  hgvsp: ENST00000376094.4:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.9C>T
  hgvsp: ENST00000539018.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.548C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.657C>T
  hgvsp: ENST00000340993.6:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7868C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.657C>T
  hgvsp: ENST00000394239.3:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.657C>T
  hgvsp: ENST00000325752.3:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.657C>T
  hgvsp: ENST00000592426.1:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*375C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.375C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11466C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile219Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-57955579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955579
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955579
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7865T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.654T>C
  hgvsp: ENST00000592426.1:c.654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.654T>C
  hgvsp: ENST00000376094.4:c.654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.654T>C
  hgvsp: ENST00000340993.6:c.654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*372T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.372T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11469T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.654T>C
  hgvsp: ENST00000394239.3:c.654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.6T>C
  hgvsp: ENST00000539018.1:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.545T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.654T>C
  hgvsp: ENST00000325752.3:c.654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn218Asn
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

17-57955585-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955585
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955585
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.648G>C
  hgvsp: ENST00000394239.3:c.648G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.648G>C
  hgvsp: ENST00000592426.1:c.648G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.648G>C
  hgvsp: ENST00000376094.4:c.648G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11475G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*366G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.648G>C
  hgvsp: ENST00000325752.3:c.648G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.648G>C
  hgvsp: ENST00000340993.6:c.648G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-1G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7859G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.539G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.366G>C
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu216Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-57955606-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955606
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955606
    reference: chr 17
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11496C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.627C>G
  hgvsp: ENSP00000342399.5:p.Ile209Met
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.627C>G
  hgvsp: ENSP00000468518.1:p.Ile209Met
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.627C>G
  hgvsp: ENSP00000377785.3:p.Ile209Met
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.627C>G
  hgvsp: ENSP00000365262.4:p.Ile209Met
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.518C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.627C>G
  hgvsp: ENSP00000320797.3:p.Ile209Met
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7838C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-22C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.345C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*345C>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile209Met
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-57955610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955610
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955610
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.623C>T
  hgvsp: ENSP00000365262.4:p.Ala208Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.623C>T
  hgvsp: ENSP00000468518.1:p.Ala208Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.623C>T
  hgvsp: ENSP00000342399.5:p.Ala208Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.341C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.623C>T
  hgvsp: ENSP00000377785.3:p.Ala208Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11500C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.623C>T
  hgvsp: ENSP00000320797.3:p.Ala208Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.514C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*341C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7834C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala208Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-57955622-TGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955619
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.608_610delTTC
  hgvsp: ENSP00000320797.3:p.Leu203del
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.608_610delTTC
  hgvsp: ENSP00000468518.1:p.Leu203del
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.608_610delTTC
  hgvsp: ENSP00000377785.3:p.Leu203del
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.608_610delTTC
  hgvsp: ENSP00000342399.5:p.Leu203del
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.326_328delTTC
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-41_-39delTTC
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11515_173-11513delTTC
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.608_610delTTC
  hgvsp: ENSP00000365262.4:p.Leu203del
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*326_*328delTTC
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7819_119+7821delTTC
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.499_501delTTC
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 35213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu203del
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: TGAA
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-57955626-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955626
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955626
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.607C>G
  hgvsp: ENSP00000365262.4:p.Leu203Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.607C>G
  hgvsp: ENSP00000320797.3:p.Leu203Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.607C>G
  hgvsp: ENSP00000377785.3:p.Leu203Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-42C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*325C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7818C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.498C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.607C>G
  hgvsp: ENSP00000342399.5:p.Leu203Val
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.325C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11516C>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.607C>G
  hgvsp: ENSP00000468518.1:p.Leu203Val
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu203Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-57955635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955635
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955635
    reference: chr 17
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.598G>A
  hgvsp: ENSP00000468518.1:p.Ala200Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7809G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11525G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.489G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*316G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.598G>A
  hgvsp: ENSP00000365262.4:p.Ala200Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.598G>A
  hgvsp: ENSP00000320797.3:p.Ala200Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-51G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.598G>A
  hgvsp: ENSP00000377785.3:p.Ala200Thr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.316G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.598G>A
  hgvsp: ENSP00000342399.5:p.Ala200Thr
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala200Thr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-57955636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955636
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955636
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*315C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.315C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.597C>T
  hgvsp: ENST00000394239.3:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.597C>T
  hgvsp: ENST00000325752.3:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.488C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.597C>T
  hgvsp: ENST00000376094.4:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.597C>T
  hgvsp: ENST00000592426.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.597C>T
  hgvsp: ENST00000340993.6:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7808C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11526C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp199Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

17-57955637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955637
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955637
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-53A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.596A>G
  hgvsp: ENSP00000320797.3:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.314A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.596A>G
  hgvsp: ENSP00000365262.4:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*314A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.596A>G
  hgvsp: ENSP00000468518.1:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.487A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.596A>G
  hgvsp: ENSP00000377785.3:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7807A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11527A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.596A>G
  hgvsp: ENSP00000342399.5:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp199Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-57955647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955647
    reference: chr 17
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*304C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.304C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11537C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-63C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.586C>T
  hgvsp: ENSP00000377785.3:p.Arg196Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.586C>T
  hgvsp: ENSP00000342399.5:p.Arg196Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.586C>T
  hgvsp: ENSP00000468518.1:p.Arg196Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.477C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.586C>T
  hgvsp: ENSP00000365262.4:p.Arg196Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.586C>T
  hgvsp: ENSP00000320797.3:p.Arg196Ter
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7797C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg196Ter
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-57955651-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955650
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.581delT
  hgvsp: ENSP00000320797.3:p.Leu194CysfsTer23
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.581delT
  hgvsp: ENSP00000377785.3:p.Leu194CysfsTer23
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.581delT
  hgvsp: ENSP00000365262.4:p.Leu194CysfsTer23
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*299delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.472delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.581delT
  hgvsp: ENSP00000468518.1:p.Leu194CysfsTer23
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7792delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11542delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.581delT
  hgvsp: ENSP00000342399.5:p.Leu194CysfsTer23
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-68delT
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.299delT
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu194CysfsTer23
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: CA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-57955652-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955652
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.472T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.581T>G
  hgvsp: ENSP00000320797.3:p.Leu194Trp
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.581T>G
  hgvsp: ENSP00000365262.4:p.Leu194Trp
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.581T>G
  hgvsp: ENSP00000342399.5:p.Leu194Trp
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-68T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.581T>G
  hgvsp: ENSP00000468518.1:p.Leu194Trp
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.581T>G
  hgvsp: ENSP00000377785.3:p.Leu194Trp
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.299T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7792T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*299T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11542T>G
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu194Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-57955660-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955660
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955660
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.573T>C
  hgvsp: ENST00000340993.6:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.291T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.464T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.573T>C
  hgvsp: ENST00000592426.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7784T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*291T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-76T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.573T>C
  hgvsp: ENST00000376094.4:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11550T>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.573T>C
  hgvsp: ENST00000394239.3:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.573T>C
  hgvsp: ENST00000325752.3:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu191Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-57955673-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955673
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955673
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.560C>A
  hgvsp: ENSP00000342399.5:p.Ser187Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.451C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.560C>A
  hgvsp: ENSP00000320797.3:p.Ser187Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-89C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.560C>A
  hgvsp: ENSP00000377785.3:p.Ser187Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11563C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7771C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000591611
  gene symbol: TUBD1
  hgvsc: ENST00000591611.1:n.585C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.560C>A
  hgvsp: ENSP00000468518.1:p.Ser187Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*278C>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.560C>A
  hgvsp: ENSP00000365262.4:p.Ser187Tyr
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.278C>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser187Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-57955689-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955689
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955689
    reference: chr 17
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000591611
  gene symbol: TUBD1
  hgvsc: ENST00000591611.1:n.569G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.435G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-105G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7755G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.544G>C
  hgvsp: ENSP00000468518.1:p.Val182Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.544G>C
  hgvsp: ENSP00000377785.3:p.Val182Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.544G>C
  hgvsp: ENSP00000365262.4:p.Val182Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.544G>C
  hgvsp: ENSP00000320797.3:p.Val182Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*262G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.262G>C
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.544G>C
  hgvsp: ENSP00000342399.5:p.Val182Leu
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11579G>C
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val182Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-57955695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955695
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955695
    reference: chr 17
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000591611
  gene symbol: TUBD1
  hgvsc: ENST00000591611.1:n.563G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.538G>A
  hgvsp: ENSP00000377785.3:p.Val180Ile
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11585G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.538G>A
  hgvsp: ENSP00000320797.3:p.Val180Ile
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.429G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.538G>A
  hgvsp: ENSP00000365262.4:p.Val180Ile
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.538G>A
  hgvsp: ENSP00000342399.5:p.Val180Ile
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*256G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7749G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.256G>A
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.538G>A
  hgvsp: ENSP00000468518.1:p.Val180Ile
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val180Ile
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-57955703-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955703
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955703
    reference: chr 17
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.256-8C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*256-8C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.538-8C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.538-8C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.538-8C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.538-8C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000591611
  gene symbol: TUBD1
  hgvsc: ENST00000591611.1:n.563-8C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7741C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-111-8C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11593C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.421C>T
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.538-8C>T
  variant of: http://identifiers.org/hgnc/16811
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.538-8C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/17-57955715-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955715
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955715
    reference: chr 17
allele count: 2
allele frequency: 1.711039627677777e-5
allele num: 116888
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.538-20T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*256-20T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.256-20T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.538-20T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7729T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.538-20T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.409T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.538-20T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000591611
  gene symbol: TUBD1
  hgvsc: ENST00000591611.1:n.563-20T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.538-20T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-111-20T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11605T>G
  variant of: http://identifiers.org/hgnc/16811
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15147
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

17-57955727-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955727
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955727
    reference: chr 17
allele count: 1
allele frequency: 8.777319406653208e-6
allele num: 113930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.256-32A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000591611
  gene symbol: TUBD1
  hgvsc: ENST00000591611.1:n.563-32A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.538-32A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.538-32A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11617A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.538-32A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.397A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*256-32A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7717A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.538-32A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.538-32A>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-111-32A>G
  variant of: http://identifiers.org/hgnc/16811
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-57955728-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57955728
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 57955728
    reference: chr 17
allele count: 250
allele frequency: 2.192597789861428e-3
allele num: 114020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000588009
  gene symbol: TUBD1
  hgvsc: ENST00000588009.1:n.256-33T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000441757
  ensembl transcript: ENST00000539018
  gene symbol: TUBD1
  hgvsc: ENST00000539018.1:c.-111-33T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000377785
  ensembl transcript: ENST00000394239
  gene symbol: TUBD1
  hgvsc: ENST00000394239.3:c.538-33T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000467915
  ensembl transcript: ENST00000591548
  gene symbol: TUBD1
  hgvsc: ENST00000591548.1:c.*256-33T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000365262
  ensembl transcript: ENST00000376094
  gene symbol: TUBD1
  hgvsc: ENST00000376094.4:c.538-33T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000466681
  ensembl transcript: ENST00000593110
  gene symbol: TUBD1
  hgvsc: ENST00000593110.1:c.119+7716T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000587476
  gene symbol: TUBD1
  hgvsc: ENST00000587476.1:n.396T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342399
  ensembl transcript: ENST00000340993
  gene symbol: TUBD1
  hgvsc: ENST00000340993.6:c.538-33T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000320797
  ensembl transcript: ENST00000325752
  gene symbol: TUBD1
  hgvsc: ENST00000325752.3:c.538-33T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl transcript: ENST00000591611
  gene symbol: TUBD1
  hgvsc: ENST00000591611.1:n.563-33T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000468518
  ensembl transcript: ENST00000592426
  gene symbol: TUBD1
  hgvsc: ENST00000592426.1:c.538-33T>G
  variant of: http://identifiers.org/hgnc/16811
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108423
  ensembl protein: ENSP00000342561
  ensembl transcript: ENST00000346141
  gene symbol: TUBD1
  hgvsc: ENST00000346141.6:c.173-11618T>G
  variant of: http://identifiers.org/hgnc/16811
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 1.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 15743
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11729
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 3
reference allele: A

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3184
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17928
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16843
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.507056633235242e-5
allele num: 66604
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

DP
type: SiteQuality
SIO_000300: 2.375462e6

FS
type: SiteQuality
SIO_000300: 1.753e0

QD
type: SiteQuality
SIO_000300: 1.4e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 3485
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4907
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17924
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 8.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.934235976789168e-4
allele num: 10340
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.374091e6

QD
type: SiteQuality
SIO_000300: 1.317e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.122e0

FS
type: SiteQuality
SIO_000300: 3.037e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 240
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17922
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 4202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7733
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.373063e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.012e0

QD
type: SiteQuality
SIO_000300: 1.105e1

GenotypeQuality
all individuals: 4202
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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African
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South Asian
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QD
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.9e-2

MQ
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DP
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VQSLOD
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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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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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South Asian
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African
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Other
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Latino
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 10314
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66524
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Latino
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Other
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East Asian
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South Asian
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European (Finnish)
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QD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele num: 66488
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Latino
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African
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South Asian
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Other
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East Asian
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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South Asian
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Other
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European (Finnish)
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East Asian
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 6.940829429116779e-4
allele num: 11526
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
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QD
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DP
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SIO_000300: 2.365666e6

ReadPosRankSum
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SIO_000300: 1.27e0

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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

African
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allele num: 10048
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: -3.581e0

ClippingRankSum
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SIO_000300: -4.31e-1

MQ
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SIO_000300: 5.977e1

QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66102
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.952229299363058e-5
allele num: 10048
num of homozygotes: 0

East 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
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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DP
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SIO_000300: 2.354764e6

BaseQRankSum
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ClippingRankSum
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SIO_000300: -4.31e-1

MQ
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MQRankSum
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SIO_000300: 7.92e-1

InbreedingCoeff
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SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.727e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.34e-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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variant carriers: 1

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516898246465627e-5
allele num: 65924
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

QD
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InbreedingCoeff
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SIO_000300: 5.0e-4

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
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SIO_000300: 2.347034e6

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

FS
type: SiteQuality
SIO_000300: 5.068e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

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

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

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

Latino
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allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65814
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
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South Asian
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allele count: 0
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allele num: 16414
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ClippingRankSum
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SIO_000300: 9.72e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

African
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allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

South Asian
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allele num: 16380
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11450
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East Asian
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allele frequency: 0.0e0
allele num: 8550
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.574704931531916e-5
allele num: 65578
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.516070345664039e-4
allele num: 6596
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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FS
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.372411479459575e-4
allele num: 65578
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.525832341542311e-5
allele num: 65538
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South Asian
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 9386
num of homozygotes: 0

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

Other
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allele frequency: 2.28310502283105e-3
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.535720867375146e-5
allele num: 65116
num of homozygotes: 0

South Asian
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allele frequency: 9.773976786805131e-4
allele num: 16370
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Latino
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East Asian
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.221896383186706e-4
allele num: 16368
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65048
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 1.2e-3

MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
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SIO_000300: 1.14e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.809020436927414e-5
allele num: 11352
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 13
allele frequency: 2.013942680092951e-4
allele num: 64550
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South Asian
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East Asian
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allele frequency: 2.398656752218757e-4
allele num: 8338
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.549186676994578e-5
allele num: 64550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.081548777849881e-4
allele num: 9246
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.761804087385483e-4
allele num: 11352
num of homozygotes: 0

Other
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East Asian
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South Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.266447e6

InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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SIO_000300: -1.33e-1

MQ
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South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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DP
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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SIO_000300: -1.33e-1

InbreedingCoeff
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QD
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 5.993e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6578
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
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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 frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 64418
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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QD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
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East Asian
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Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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Latino
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South Asian
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Other
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European (Finnish)
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African
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DP
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 5583
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GenotypeQuality
all individuals: 1303
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14982
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52597204419215e-5
allele num: 65532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.288e0

FS
type: SiteQuality
SIO_000300: 1.2122e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

DP
type: SiteQuality
SIO_000300: 1.506594e6

GenotypeQuality
all individuals: 830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46672
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 2044
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1328
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.928640308582449e-4
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15512
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 3.813e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

MQRankSum
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SIO_000300: 3.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.526452e6

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.378364587319811e-5
allele num: 15678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 2.488e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

ReadPosRankSum
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SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

QD
type: SiteQuality
SIO_000300: 1.051e1

VQSLOD
type: SiteQuality
SIO_000300: -1.956e-1

DP
type: SiteQuality
SIO_000300: 1.532158e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.476e0

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
all individuals: 5827
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 82
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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
all individuals: 123
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2040
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.28140703517588e-5
allele num: 15920
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 1.538415e6

FS
type: SiteQuality
SIO_000300: 6.066e0

MQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeDepth
all individuals: 32
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variant carriers: 0

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

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1330
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 5.75e1
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GenotypeQuality
all individuals: 55
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variant carriers: 0

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

GenotypeQuality
all individuals: 2041
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.546018e6

FS
type: SiteQuality
SIO_000300: 1.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.398e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 335
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.79e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
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SIO_000300: 1.546651e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
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SIO_000300: 3.74e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

VQSLOD
type: SiteQuality
SIO_000300: -1.458e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 8.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.550831e6

QD
type: SiteQuality
SIO_000300: 1.562e1

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
all individuals: 819
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variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 5.783e1

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -4.72e-1

VQSLOD
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QD
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SIO_000300: 9.98e0

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.552564e6

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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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: 10

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

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

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

African
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allele count: 10
allele frequency: 9.609840476648087e-4
allele num: 10406
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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SIO_000300: -1.82e-1

InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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SIO_000300: 1.355e0

QD
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SIO_000300: 1.514e1

DP
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SIO_000300: 1.553411e6

BaseQRankSum
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SIO_000300: 4.38e0

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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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: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
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 frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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MQRankSum
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SIO_000300: 2.76e-1

ReadPosRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 1.4e-3

VQSLOD
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FS
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SIO_000300: 6.45e-1

MQ
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SIO_000300: 5.971e1

BaseQRankSum
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SIO_000300: -3.244e0

DP
type: SiteQuality
SIO_000300: 1.553852e6

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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variant carriers: 8

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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variant carriers: 0

GenotypeQuality
all individuals: 1343
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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
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: 6
allele frequency: 3.635041802980734e-4
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
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QD
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 6.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

Other
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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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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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FS
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
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QD
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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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)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

South Asian
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allele frequency: 3.633720930232558e-4
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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African
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Other
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East Asian
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South Asian
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.0e-4

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

QD
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SIO_000300: 1.188e1

ClippingRankSum
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SIO_000300: -1.602e0

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 1.553958e6

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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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

Other
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South Asian
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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SIO_000300: 6.0e1

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

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

African
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allele num: 10406
num of homozygotes: 0

European (Finnish)
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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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South Asian
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East Asian
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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QD
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FS
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MQ
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SIO_000300: 5.97e1

MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

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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variant carriers: 0

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66738
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East Asian
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MQRankSum
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SIO_000300: 1.93e-1

FS
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InbreedingCoeff
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QD
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.252e0

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: 0.0e0
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num of homozygotes: 0

African
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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QD
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VQSLOD
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ReadPosRankSum
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DP
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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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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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QD
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FS
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MQ
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InbreedingCoeff
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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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East Asian
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African
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South Asian
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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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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South Asian
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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European (Non-Finnish)
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East Asian
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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QD
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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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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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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African
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Other
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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Latino
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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Other
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East Asian
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66738
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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Other
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MQRankSum
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DP
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 1.727414061150458e-4
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European (Finnish)
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allele count: 0
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66728
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East Asian
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South Asian
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MQ
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QD
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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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 (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

East Asian
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66714
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

Latino
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allele num: 11568
num of homozygotes: 0

African
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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MQ
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BaseQRankSum
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SIO_000300: 1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 4.819e0

MQRankSum
type: SiteQuality
SIO_000300: -8.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.91e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

DP
type: SiteQuality
SIO_000300: 1.545612e6

GenotypeDepth
all individuals: 5055
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1467
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 125
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47070
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5803
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

DP
type: SiteQuality
SIO_000300: 1.537953e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.487e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

GenotypeDepth
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
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variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5712
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52077376969402e-5
allele num: 65756
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.459e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

FS
type: SiteQuality
SIO_000300: 1.174e0

DP
type: SiteQuality
SIO_000300: 1.512402e6

GenotypeDepth
all individuals: 27
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4960
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.303101381287464e-4
allele num: 15348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 1.444094e6

FS
type: SiteQuality
SIO_000300: 7.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

QD
type: SiteQuality
SIO_000300: 1.726e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

GenotypeDepth
all individuals: 479
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 792
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10746
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5335
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585992514115333e-5
allele num: 63052
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

QD
type: SiteQuality
SIO_000300: 1.302e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 1.300348e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

GenotypeDepth
all individuals: 108
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2260
bin: 9.75e1
variant carriers: 238

GenotypeQuality
all individuals: 5310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1025
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 541
bin: 5.25e1
variant carriers: 1