11-66288879-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66288879
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66288879
    reference: chr 11
allele count: 1
allele frequency: 8.470269354565475e-6
allele num: 118060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*619+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.941+32G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.837+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*202C>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*80C>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*490+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.557+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*490+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.801+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.539+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*533+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000533430
  gene symbol: BBS1
  hgvsc: ENST00000533430.1:n.640G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.830+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.723+1660G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.494+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*288+32G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*537+32G>C
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-66288889-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66288889
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66288889
    reference: chr 11
allele count: 3
allele frequency: 2.55885363357216e-5
allele num: 117240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.723+1670A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000533430
  gene symbol: BBS1
  hgvsc: ENST00000533430.1:n.650A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*490+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.830+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*619+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*70T>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*490+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.539+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.801+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*537+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*192T>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*533+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.941+42A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.494+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.557+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*288+42A>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.837+42A>C
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-66288889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66288889
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66288889
    reference: chr 11
allele count: 2
allele frequency: 1.70590242238144e-5
allele num: 117240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.494+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.830+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*533+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*192T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.557+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.941+42A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.801+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*619+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000533430
  gene symbol: BBS1
  hgvsc: ENST00000533430.1:n.650A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.723+1670A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*490+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*70T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*490+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*288+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.539+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*537+42A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.837+42A>G
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-66288892-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66288892
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66288893
    reference: chr 11
allele count: 1
allele frequency: 8.550808906522558e-6
allele num: 116948
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*66_*67insA
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.941+45_941+46insT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.830+45_830+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.723+1673_723+1674insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*619+45_*619+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*533+45_*533+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*188_*189insA
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*288+45_*288+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*537+45_*537+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*490+45_*490+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.557+45_557+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.539+45_539+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000533430
  gene symbol: BBS1
  hgvsc: ENST00000533430.1:n.653_654insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*490+45_*490+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.837+45_837+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.801+45_801+46insT
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.494+45_494+46insT
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

11-66290624-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290624
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290624
    reference: chr 11
allele count: 1
allele frequency: 8.983111749910169e-5
allele num: 11132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-303A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+1002T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*491-19A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1687T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2970A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-303A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.495-19A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-303A>G
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

11-66290649-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290649
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290649
    reference: chr 11
allele count: 2
allele frequency: 1.761804087385483e-4
allele num: 11352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*3A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*497A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.328A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.2A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-278A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1712T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2945A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-278A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+977T>C
  variant of: http://identifiers.org/hgnc/27387
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

11-66290656-CCACCATAGTGAAGGTGGGCGGAAGACAAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290656
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290626
    reference: chr 11
allele count: 7
allele frequency: 6.121021336131515e-4
allele num: 11436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19291
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: CCACCATAGTGAAGGTGGGCGGAAGACAAGA
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-66290670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290670
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290670
    reference: chr 11
allele count: 1
allele frequency: 8.493290300662476e-5
allele num: 11774
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-257G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.349G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-257G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*518G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-257G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-257G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+956C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-257G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1733C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-257G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.23G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-257G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2924G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-257G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-257G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-257G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-257G>A
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

11-66290675-CGGAAGACAAGACACCATAGTGAAGGTGGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290675
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290645
    reference: chr 11
allele count: 1
allele frequency: 8.418925745074928e-5
allele num: 11878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: CGGAAGACAAGACACCATAGTGAAGGTGGGA
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

11-66290676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290676
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290676
    reference: chr 11
allele count: 9
allele frequency: 7.528860632424293e-4
allele num: 11954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.29G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-251G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.355G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-251G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-251G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+950C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-251G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2918G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-251G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-251G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-251G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*524G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-251G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-251G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1739C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-251G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-251G>A
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26653
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

11-66290677-GAAGAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290677
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290672
    reference: chr 11
allele count: 1
allele frequency: 8.331944675887353e-5
allele num: 12002
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-243_942-239delAGACA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-243_*491-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-243_831-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2910_724-2906delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*532_*536delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-243_*289-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-243_802-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-243_540-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-243_*620-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1745_*22-1741delGTCTT
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.363_367delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*38_*42delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-243_558-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-243_*538-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-243_*534-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.37_41delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-243_838-239delAGACA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+944_*143+948delGTCTT
  variant of: http://identifiers.org/hgnc/27387
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: GAAGAC
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-66290889-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290889
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290889
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*191-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-38T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*685-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.242T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+737A>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2705T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-38T>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1952A>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.516-38T>A
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

11-66290899-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290899
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290899
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*685-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.252G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2695G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-28G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*191-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1962C>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.516-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-28G>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+727C>A
  variant of: http://identifiers.org/hgnc/27387
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

11-66290900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290900
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290900
    reference: chr 11
allele count: 26
allele frequency: 2.141539272535582e-4
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.253C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*191-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*685-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1963G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.516-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-27C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+726G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-27C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2694C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-27C>T
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-66290903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290903
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290903
    reference: chr 11
allele count: 12
allele frequency: 9.883864591055103e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.256G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-24G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*685-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1966C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*191-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.516-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2691G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+723C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-24G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-24G>A
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-66290906-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290906
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290906
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+720T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.259A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-21A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.516-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*191-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2688A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1969T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*685-21A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-21A>G
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

11-66290906-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290906
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290906
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.259A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.516-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+720T>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-21A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1969T>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*685-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2688A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*191-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-21A>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-21A>T
  variant of: http://identifiers.org/hgnc/966
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/11-66290922-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290922
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290922
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2672C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1985G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+704G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*191-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.516-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.275C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*685-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-5C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-5C>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.831-5C>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-66290922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290922
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290922
    reference: chr 11
allele count: 97
allele frequency: 7.989720442152777e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-5C>T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*191-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+704G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.540-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.516-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*685-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.275C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2672C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1985G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-5C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-5C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.831-5C>T
num of homozygotes: 1
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-66290924-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290924
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290924
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1987G>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.277C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*620-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2670C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.802-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.831-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.838-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.516-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*191-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*685-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*491-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*289-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*534-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.942-3C>G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*538-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.558-3C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+702G>C
  variant of: http://identifiers.org/hgnc/27387
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.831-3C>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-66290936-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290936
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290936
    reference: chr 11
allele count: 14
allele frequency: 1.153117535623095e-4
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.289G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.951G>C
  hgvsp: ENSP00000398526.3:p.Lys317Asn
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*694G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*543G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*298G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2658G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.525G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*547G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.567G>C
  hgvsp: ENSP00000431187.1:p.Lys189Asn
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-1999C>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.549G>C
  hgvsp: ENSP00000405764.2:p.Lys183Asn
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*500G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*200G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.840G>C
  hgvsp: ENSP00000317469.7:p.Lys280Asn
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.847G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.811G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*629G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+690C>G
  variant of: http://identifiers.org/hgnc/27387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys280Asn
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/11-66290939-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290939
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290939
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*301C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.570C>A
  hgvsp: ENSP00000431187.1:p.His190Gln
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*503C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.954C>A
  hgvsp: ENSP00000398526.3:p.His318Gln
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2002G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.843C>A
  hgvsp: ENSP00000317469.7:p.His281Gln
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*203C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.552C>A
  hgvsp: ENSP00000405764.2:p.His184Gln
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.528C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*632C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2655C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*697C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.292C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+687G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*546C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.850C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*550C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.814C>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His281Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

11-66290939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290939
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290939
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*503C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.570C>T
  hgvsp: ENST00000525809.1:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.528C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*697C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.814C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*550C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*301C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.954C>T
  hgvsp: ENST00000419755.3:c.954C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2002G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.292C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.552C>T
  hgvsp: ENST00000455748.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*632C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+687G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.843C>T
  hgvsp: ENST00000318312.7:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.850C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434197
  ensembl transcript: ENST00000526035
  gene symbol: BBS1
  hgvsc: ENST00000526035.1:c.*546C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*203C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2655C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His281His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-66290946-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290946
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290946
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.559T>G
  hgvsp: ENSP00000405764.2:p.Tyr187Asp
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2009A>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.821T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*557T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.961T>G
  hgvsp: ENSP00000398526.3:p.Tyr321Asp
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+680A>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*510T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.535T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*704T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.857T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*308T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*210T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.850T>G
  hgvsp: ENSP00000317469.7:p.Tyr284Asp
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.299T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2648T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*639T>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431187
  ensembl transcript: ENST00000525809
  gene symbol: BBS1
  hgvsc: ENST00000525809.1:c.577T>G
  hgvsp: ENST00000525809.1:c.577T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr284Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-66290946-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290946
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290945
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*558delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+679delT
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*309delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*640delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.560delA
  hgvsp: ENSP00000405764.2:p.Tyr187SerfsTer5
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*705delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.536delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.822delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.962delA
  hgvsp: ENSP00000398526.3:p.Tyr321SerfsTer5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2010delT
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.300delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*511delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*211delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2647delA
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.851delA
  hgvsp: ENSP00000317469.7:p.Tyr284SerfsTer5
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.858delA
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr284SerfsTer5
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: TA
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-66290954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290954
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290954
    reference: chr 11
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.307C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*647C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*565C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*712C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.969C>T
  hgvsp: ENST00000419755.3:c.969C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.858C>T
  hgvsp: ENST00000318312.7:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.2C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*518C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*218C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.829C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+672G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.567C>T
  hgvsp: ENST00000455748.2:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2017G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.543C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.865C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*316C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2640C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile286Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

11-66290955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290955
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290955
    reference: chr 11
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*566G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2639G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.970G>A
  hgvsp: ENSP00000398526.3:p.Glu324Lys
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*317G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.544G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.3G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.859G>A
  hgvsp: ENSP00000317469.7:p.Glu287Lys
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*648G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.866G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000439873
  ensembl transcript: ENST00000537537
  gene symbol: BBS1
  hgvsc: ENST00000537537.1:c.*219G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.568G>A
  hgvsp: ENSP00000405764.2:p.Glu190Lys
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*713G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2018C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+671C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*519G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.830G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.308G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu287Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

11-66290963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290963
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290963
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*325C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.576C>T
  hgvsp: ENST00000455748.2:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*656C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.867C>T
  hgvsp: ENST00000318312.7:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.978C>T
  hgvsp: ENST00000419755.3:c.978C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*721C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*574C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.838C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.874C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*527C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+663G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.316C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2631C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.11C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2026G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.552C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser289Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

11-66290964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290964
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290964
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.317G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*575G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.868G>A
  hgvsp: ENSP00000317469.7:p.Ala290Thr
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*722G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*528G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.875G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+662C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.12G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*657G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.979G>A
  hgvsp: ENSP00000398526.3:p.Ala327Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.577G>A
  hgvsp: ENSP00000405764.2:p.Ala193Thr
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*326G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.839G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2027C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.553G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2630G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala290Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

11-66290973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290973
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290973
    reference: chr 11
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.877G>A
  hgvsp: ENSP00000317469.7:p.Val293Met
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*537G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.562G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2036C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.21G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*335G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*584G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.988G>A
  hgvsp: ENSP00000398526.3:p.Val330Met
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*666G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.586G>A
  hgvsp: ENSP00000405764.2:p.Val196Met
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2621G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*731G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+653C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.848G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.326G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.884G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val293Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-66290983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290983
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290983
    reference: chr 11
allele count: 11
allele frequency: 9.061104795795647e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2611T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.31T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+643A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*741T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.887T>C
  hgvsp: ENSP00000317469.7:p.Ile296Thr
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.596T>C
  hgvsp: ENSP00000405764.2:p.Ile199Thr
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.336T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*547T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.998T>C
  hgvsp: ENSP00000398526.3:p.Ile333Thr
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*594T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2046A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*676T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*345T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.858T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.894T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000524884
  gene symbol: BBS1
  hgvsc: ENST00000524884.1:n.572T>C
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile296Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

11-66290985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290985
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290985
    reference: chr 11
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*678C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.338C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.896C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1000C>T
  hgvsp: ENSP00000398526.3:p.Arg334Trp
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.889C>T
  hgvsp: ENSP00000317469.7:p.Arg297Trp
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*596C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*549C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2609C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.860C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.598C>T
  hgvsp: ENSP00000405764.2:p.Arg200Trp
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.33C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+641G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*743C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2048G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*347C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg297Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

11-66290986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290986
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290986
    reference: chr 11
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*679G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.599G>A
  hgvsp: ENSP00000405764.2:p.Arg200Gln
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.861G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.339G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+640C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*597G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1001G>A
  hgvsp: ENSP00000398526.3:p.Arg334Gln
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2049C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*550G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.890G>A
  hgvsp: ENSP00000317469.7:p.Arg297Gln
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*348G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2608G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.34G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*744G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.897G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg297Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

11-66290992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66290992
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66290992
    reference: chr 11
allele count: 8
allele frequency: 6.590328692643546e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1007A>G
  hgvsp: ENSP00000398526.3:p.His336Arg
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2602A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*750A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*556A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.345A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*354A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436195
  ensembl transcript: ENST00000524458
  gene symbol: BBS1
  hgvsc: ENST00000524458.1:c.*685A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.605A>G
  hgvsp: ENSP00000405764.2:p.His202Arg
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.896A>G
  hgvsp: ENSP00000317469.7:p.His299Arg
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*603A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.903A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+634T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2055T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.40A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.867A>G
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His299Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-66291000-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291000
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291000
    reference: chr 11
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*362C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*564C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.911C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+626G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.353C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*758C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1015C>A
  hgvsp: ENSP00000398526.3:p.Leu339Ile
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.48C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.904C>A
  hgvsp: ENSP00000317469.7:p.Leu302Ile
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*611C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.613C>A
  hgvsp: ENSP00000405764.2:p.Leu205Ile
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2594C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2063G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.875C>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu302Ile
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

11-66291000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291000
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291000
    reference: chr 11
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1015C>T
  hgvsp: ENST00000419755.3:c.1015C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2063G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.875C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.904C>T
  hgvsp: ENST00000318312.7:c.904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2594C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000436073
  ensembl transcript: ENST00000533644
  gene symbol: BBS1
  hgvsc: ENST00000533644.1:c.*362C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.353C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000434619
  ensembl transcript: ENST00000533557
  gene symbol: BBS1
  hgvsc: ENST00000533557.1:c.*758C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.48C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*611C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.911C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.613C>T
  hgvsp: ENST00000455748.2:c.613C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*564C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+626G>A
  variant of: http://identifiers.org/hgnc/27387
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu302Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

11-66291004-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291004
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291004
    reference: chr 11
allele count: 6
allele frequency: 4.943723942455053e-5
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*568T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2590T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1019T>C
  hgvsp: ENSP00000398526.3:p.Val340Ala
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2067A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.357T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.52T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*615T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+622A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.915T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.908T>C
  hgvsp: ENSP00000317469.7:p.Val303Ala
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.879T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.617T>C
  hgvsp: ENSP00000405764.2:p.Val206Ala
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val303Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-66291005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291005
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291005
    reference: chr 11
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.880G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*569G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.618G>A
  hgvsp: ENST00000455748.2:c.618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1020G>A
  hgvsp: ENST00000419755.3:c.1020G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2589G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+621C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*616G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.916G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.358G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2068C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.909G>A
  hgvsp: ENST00000318312.7:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.53G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val303Val
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-66291030-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291030
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291030
    reference: chr 11
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2564C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.78C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.905C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.643C>A
  hgvsp: ENSP00000405764.2:p.His215Asn
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+596G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.934C>A
  hgvsp: ENSP00000317469.7:p.His312Asn
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1045C>A
  hgvsp: ENSP00000398526.3:p.His349Asn
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.383C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*594C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*641C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.941C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2093G>T
  variant of: http://identifiers.org/hgnc/27387
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His312Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

11-66291031-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291031
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291031
    reference: chr 11
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.906A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.942A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+595T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.935A>G
  hgvsp: ENSP00000317469.7:p.His312Arg
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*595A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1046A>G
  hgvsp: ENSP00000398526.3:p.His349Arg
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2094T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.644A>G
  hgvsp: ENSP00000405764.2:p.His215Arg
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*642A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.384A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.79A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2563A>G
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His312Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

11-66291035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291035
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291035
    reference: chr 11
allele count: 3
allele frequency: 2.474267616785431e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.83C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.946C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1050C>T
  hgvsp: ENST00000419755.3:c.1050C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.648C>T
  hgvsp: ENST00000455748.2:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+591G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.939C>T
  hgvsp: ENST00000318312.7:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.388C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2559C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*646C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*599C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2098G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.910C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly313Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

11-66291044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291044
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291044
    reference: chr 11
allele count: 3
allele frequency: 2.475492623031983e-5
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+582G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.92C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.657C>T
  hgvsp: ENST00000455748.2:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.955C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*655C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1059C>T
  hgvsp: ENST00000419755.3:c.1059C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*608C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.919C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2107G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.397C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.948C>T
  hgvsp: ENST00000318312.7:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2550C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His316His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

11-66291048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291048
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291048
    reference: chr 11
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+1G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+1G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+1G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+1G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+1G>A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+1G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+1G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2111C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+1G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+578C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+1G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2546G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1062+1G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

11-66291048-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291048
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291048
    reference: chr 11
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+1G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2546G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+1G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+1G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+1G>C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+1G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+578C>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2111C>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+1G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+1G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+1G>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+1G>C
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1062+1G>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/11-66291054-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291054
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291054
    reference: chr 11
allele count: 5
allele frequency: 4.127319553589117e-5
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+7C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+7C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+7C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+7C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+7C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+7C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+572G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2117G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+7C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+7C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+7C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2540C>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1062+7C>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

11-66291057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291057
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291057
    reference: chr 11
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2120G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+10C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+10C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+10C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+10C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+10C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+569G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+10C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+10C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+10C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+10C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2537C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

11-66291062-AAGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291062
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291059
    reference: chr 11
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+22_922+24delAGC
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+22_1062+24delAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+22_660+24delAGC
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+22_*611+24delAGC
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+22_95+24delAGC
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2128_*22-2126delGCT
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+22_951+24delAGC
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+22_958+24delAGC
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+22_400+24delAGC
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+22_*658+24delAGC
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+561_*143+563delGCT
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2525_724-2523delAGC
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: AAGC
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

11-66291074-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291074
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291074
    reference: chr 11
allele count: 11
allele frequency: 9.088205162100532e-5
allele num: 121036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+27C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+27C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+27C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+27C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+27C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+27C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+27C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2520C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2137G>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+27C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+27C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+552G>C
  variant of: http://identifiers.org/hgnc/27387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

11-66291079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291079
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291079
    reference: chr 11
allele count: 3
allele frequency: 2.478888136041381e-5
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+32C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+32C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2142G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+32C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+32C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+32C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+32C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+32C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2515C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+32C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+32C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+547G>A
  variant of: http://identifiers.org/hgnc/27387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-66291080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291080
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291080
    reference: chr 11
allele count: 2
allele frequency: 1.653111155194075e-5
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+33G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+33G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+33G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+33G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+546C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+33G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2143C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+33G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+33G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2514G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+33G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+33G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-66291087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291087
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291087
    reference: chr 11
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+539A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+40T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2507T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+40T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+40T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+40T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+40T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+40T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2150A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+40T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+40T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+40T>C
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

11-66291091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291091
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291091
    reference: chr 11
allele count: 1
allele frequency: 8.271435424903638e-6
allele num: 120898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+44T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+44T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+44T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+44T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+44T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+44T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2503T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+44T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+44T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+535A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2154A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+44T>C
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/11-66291098-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291098
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291098
    reference: chr 11
allele count: 6
allele frequency: 4.965161119478327e-5
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.958+51C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.95+51C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*611+51C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.400+51C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+528G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.922+51C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.951+51C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1062+51C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2496C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.660+51C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*658+51C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2161G>T
  variant of: http://identifiers.org/hgnc/27387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

11-66291149-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291149
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291149
    reference: chr 11
allele count: 1
allele frequency: 8.373666493610892e-6
allele num: 119422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-46A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-46A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2445A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-46A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-46A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-46A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+477T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-46A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-46A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2212T>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-46A>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-46A>G
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

11-66291150-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291150
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291150
    reference: chr 11
allele count: 2
allele frequency: 1.675097993232604e-5
allele num: 119396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-45C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-45C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-45C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-45C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2213G>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-45C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+476G>C
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-45C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-45C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2444C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-45C>G
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-45C>G
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14470
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

11-66291152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291152
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291152
    reference: chr 11
allele count: 1
allele frequency: 8.380403265005112e-6
allele num: 119326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-43G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+474C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2442G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-43G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-43G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-43G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-43G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-43G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-43G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-43G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-43G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2215C>T
  variant of: http://identifiers.org/hgnc/27387
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-66291156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291156
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291156
    reference: chr 11
allele count: 1
allele frequency: 8.375770570892522e-6
allele num: 119392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-39G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-39G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-39G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2438G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-39G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-39G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-39G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-39G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+470C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-39G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2219C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-39G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

11-66291164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291164
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291164
    reference: chr 11
allele count: 4
allele frequency: 3.350757271143279e-5
allele num: 119376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-31C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-31C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-31C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-31C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+462G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-31C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-31C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-31C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-31C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2430C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2227G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-31C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9683
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

11-66291165-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291165
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291165
    reference: chr 11
allele count: 1
allele frequency: 8.373526259378349e-6
allele num: 119424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-30C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-30C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-30C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-30C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2429C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-30C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+461G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-30C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-30C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2228G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-30C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-30C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11853
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

11-66291166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291166
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291166
    reference: chr 11
allele count: 1
allele frequency: 8.372264362619514e-6
allele num: 119442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-29C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-29C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-29C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-29C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+460G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-29C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-29C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2229G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-29C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-29C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2428C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-29C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

11-66291167-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291167
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291167
    reference: chr 11
allele count: 2
allele frequency: 1.67521023888498e-5
allele num: 119388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-28T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-28T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+459A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-28T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-28T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-28T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-28T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2230A>G
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-28T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-28T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-28T>C
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2427T>C
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

11-66291176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291176
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291176
    reference: chr 11
allele count: 13
allele frequency: 1.089288108325513e-4
allele num: 119344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-19G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-19G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-19G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2418G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+450C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-19G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-19G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-19G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2239C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-19G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-19G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-19G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14408
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-66291177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291177
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291177
    reference: chr 11
allele count: 1
allele frequency: 8.370302167908262e-6
allele num: 119470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-18C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-18C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-18C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-18C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-18C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-18C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+449G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-18C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-18C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2417C>T
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2240G>A
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-18C>T
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

11-66291183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291183
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291183
    reference: chr 11
allele count: 1
allele frequency: 8.365820603342981e-6
allele num: 119534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-12G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-12G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-12G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+443C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-12G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-12G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-12G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-12G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-12G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2246C>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-12G>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2411G>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-66291186-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66291186
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66291186
    reference: chr 11
allele count: 1
allele frequency: 8.366520531441385e-6
allele num: 119524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000432140
  ensembl transcript: ENST00000526760
  gene symbol: BBS1
  hgvsc: ENST00000526760.1:c.*659-9C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000256349
  ensembl protein: ENSP00000398526
  ensembl transcript: ENST00000419755
  gene symbol: CTD-3074O7.11
  hgvsc: ENST00000419755.3:c.1063-9C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529955
  gene symbol: BBS1
  hgvsc: ENST00000529955.1:n.923-9C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000377563
  ensembl transcript: ENST00000393994
  gene symbol: BBS1
  hgvsc: ENST00000393994.2:c.724-2408C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000431321
  ensembl transcript: ENST00000526986
  gene symbol: ZDHHC24
  hgvsc: ENST00000526986.1:c.*22-2249G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000431866
  ensembl transcript: ENST00000532908
  gene symbol: BBS1
  hgvsc: ENST00000532908.1:c.*612-9C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174165
  ensembl protein: ENSP00000436503
  ensembl transcript: ENST00000534073
  gene symbol: ZDHHC24
  hgvsc: ENST00000534073.1:c.*143+440G>T
  variant of: http://identifiers.org/hgnc/27387
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529766
  gene symbol: BBS1
  hgvsc: ENST00000529766.1:n.959-9C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000529895
  gene symbol: BBS1
  hgvsc: ENST00000529895.1:n.401-9C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000405764
  ensembl transcript: ENST00000455748
  gene symbol: BBS1
  hgvsc: ENST00000455748.2:c.661-9C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl protein: ENSP00000317469
  ensembl transcript: ENST00000318312
  gene symbol: BBS1
  hgvsc: ENST00000318312.7:c.952-9C>A
  variant of: http://identifiers.org/hgnc/966
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174483
  ensembl transcript: ENST00000527959
  gene symbol: BBS1
  hgvsc: ENST00000527959.1:n.96-9C>A
  variant of: http://identifiers.org/hgnc/966
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 515
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5684
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15132
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8809
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3571
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11206
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4212
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1578
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8185
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538508877196221e-5
allele num: 64998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

DP
type: SiteQuality
SIO_000300: 1.895562e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 2.989e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.472e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeDepth
all individuals: 961
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7961
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 183
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11310
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4669
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 445
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11412
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3571
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3311
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4416
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5488
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8185
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4982
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.992428770671449e-4
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549282682118179e-5
allele num: 64546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.837547e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 3.005e0

QD
type: SiteQuality
SIO_000300: 1.496e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.599e0

GenotypeDepth
all individuals: 445
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11412
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4669
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeDepth
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African
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European (Non-Finnish)
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European (Finnish)
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DP
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FS
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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African
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European (Finnish)
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QD
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MQ
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Latino
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African
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DP
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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East Asian
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FS
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VQSLOD
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DP
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MQ
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African
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East Asian
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MQ
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DP
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QD
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VQSLOD
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African
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (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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DP
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Latino
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Other
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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FS
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MQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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Other
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South Asian
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European (Finnish)
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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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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East Asian
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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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VQSLOD
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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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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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MQRankSum
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ReadPosRankSum
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FS
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QD
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VQSLOD
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DP
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MQ
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variant carriers: 5

GenotypeDepth
all individuals: 4607
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 8209
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1343
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 7792
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2036
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 885
bin: 7.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 7237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33026
bin: 9.75e1
variant carriers: 25

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

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

GenotypeQuality
all individuals: 4097
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3758
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 2.499038831218762e-3
allele num: 10404
num of homozygotes: 1

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

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

DP
type: SiteQuality
SIO_000300: 2.734275e6

FS
type: SiteQuality
SIO_000300: 1.133e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.608e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.11e-2

QD
type: SiteQuality
SIO_000300: 1.199e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

GenotypeDepth
all individuals: 8075
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8581
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1414
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6405
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3112
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1341
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 6701
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 9.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 344
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 563
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8212
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 427
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4097
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7255
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33012
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 4004
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.648186994306263e-4
allele num: 66740
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: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

FS
type: SiteQuality
SIO_000300: 1.132e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.73378e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.595e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

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

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

GenotypeDepth
all individuals: 8212
bin: 3.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1412
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8582
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3112
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8077
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6403
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1339
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4605
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3768
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4005
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33007
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4101
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 8.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.042e1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

DP
type: SiteQuality
SIO_000300: 2.733245e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 3112
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7793
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6707
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4605
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1412
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6403
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 33007
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4005
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3759
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 2.733245e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

QD
type: SiteQuality
SIO_000300: 1.042e1

Annotation
canonical: true
clinical significance: benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000256349
ensembl protein: ENSP00000398526
ensembl transcript: ENST00000419755
gene symbol: CTD-3074O7.11
hgvsc: ENST00000419755.3:c.942-5C>A

GenotypeDepth
all individuals: 348
bin: 8.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4598
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8206
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6703
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6400
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8572
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1411
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8078
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3115
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 565
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7791
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2418
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2363
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4101
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 33009
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3999
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.735332e6

VQSLOD
type: SiteQuality
SIO_000300: 6.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

Annotation
canonical: false
clinical significance: benign
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000174483
ensembl protein: ENSP00000436073
ensembl transcript: ENST00000533644
gene symbol: BBS1
hgvsc: ENST00000533644.1:c.*289-5C>T
variant of: http://identifiers.org/hgnc/966

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

GenotypeDepth
all individuals: 3115
bin: 6.25e1
variant carriers: 9

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

GenotypeDepth
all individuals: 4598
bin: 5.75e1
variant carriers: 5

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

GenotypeDepth
all individuals: 213
bin: 9.25e1
variant carriers: 5

GenotypeDepth
all individuals: 565
bin: 8.25e1
variant carriers: 12

GenotypeDepth
all individuals: 1411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 6.75e1
variant carriers: 8

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

GenotypeDepth
all individuals: 8206
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8078
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6703
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 8.75e1
variant carriers: 6

GenotypeDepth
all individuals: 885
bin: 7.75e1
variant carriers: 9

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 28

GenotypeDepth
all individuals: 1337
bin: 7.25e1
variant carriers: 5

GenotypeDepth
all individuals: 6400
bin: 5.25e1
variant carriers: 5

GenotypeDepth
all individuals: 8572
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 7791
bin: 4.75e1
variant carriers: 2

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

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

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

GenotypeQuality
all individuals: 3999
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2363
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 33009
bin: 9.75e1
variant carriers: 96

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4101
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 91
allele frequency: 8.744954833749759e-3
allele num: 10406
num of homozygotes: 1

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

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

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

Latino
type: Population
allele count: 6
allele frequency: 5.182242183451373e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 2.735332e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e0

QD
type: SiteQuality
SIO_000300: 1.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

Annotation
canonical: false
clinical significance: pathogenic
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000174483
ensembl protein: ENSP00000405764
ensembl transcript: ENST00000455748
gene symbol: BBS1
hgvsc: ENST00000455748.2:c.540-3C>G
variant of: http://identifiers.org/hgnc/966

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

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

GenotypeDepth
all individuals: 417
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8222
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1412
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2024
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8100
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1332
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6403
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4594
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6724
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 876
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7798
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8583
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3109
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4115
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32954
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.2752e1

VQSLOD
type: SiteQuality
SIO_000300: -2.252e0

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.730991e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.956e0

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

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

GenotypeDepth
all individuals: 8221
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 419
bin: 9.75e1
variant carriers: 4

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

GenotypeDepth
all individuals: 6402
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8582
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1410
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6726
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1332
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8100
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 876
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 555
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4593
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3110
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2024
bin: 6.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32954
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4000
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 14
allele frequency: 1.617749017795239e-3
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.254e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 2.731187e6

GenotypeDepth
all individuals: 3110
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1332
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8220
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 8.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4594
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1410
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6403
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8584
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 875
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3784
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4001
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32949
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.041e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 6.673e0

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

DP
type: SiteQuality
SIO_000300: 2.730551e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

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

GenotypeDepth
all individuals: 416
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4594
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2022
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 8.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 6729
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1410
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3110
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8220
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8100
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 875
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7797
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6403
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32949
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.673e0

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.730551e6

QD
type: SiteQuality
SIO_000300: 1.041e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeDepth
all individuals: 6733
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1408
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8216
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8583
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7796
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 4594
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6403
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3109
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1333
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3783
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
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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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South Asian
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Latino
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African
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European (Non-Finnish)
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East Asian
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Other
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VQSLOD
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MQ
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FS
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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Latino
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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South Asian
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Latino
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Other
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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Latino
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Other
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African
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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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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African
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East Asian
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European (Non-Finnish)
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Latino
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Other
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South Asian
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European (Finnish)
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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MQ
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VQSLOD
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FS
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 9
allele frequency: 8.648856428983279e-4
allele num: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
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ReadPosRankSum
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SIO_000300: 8.29e-1

DP
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MQ
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SIO_000300: 5.944e1

BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66724
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East Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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 num: 6612
num of homozygotes: 0

South Asian
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 1.049066330965441e-4
allele num: 66726
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ClippingRankSum
type: SiteQuality
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QD
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FS
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MQRankSum
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Other
type: Population
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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ReadPosRankSum
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FS
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MQRankSum
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DP
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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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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ClippingRankSum
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FS
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MQ
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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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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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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QD
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DP
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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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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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African
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Other
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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South Asian
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Other
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Latino
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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SIO_000300: -1.582e0

DP
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VQSLOD
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ClippingRankSum
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SIO_000300: -8.0e-2

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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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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MQ
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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DP
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ReadPosRankSum
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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 frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele num: 10380
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
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SIO_000300: 1.21e0

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

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

African
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allele frequency: 0.0e0
allele num: 10382
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 (Non-Finnish)
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allele count: 4
allele frequency: 6.00943481265587e-5
allele num: 66562
num of homozygotes: 0

Latino
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allele num: 11564
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

South Asian
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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SIO_000300: 1.204e0

ClippingRankSum
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SIO_000300: -2.5e-1

GenotypeDepth
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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African
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South Asian
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European (Non-Finnish)
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allele num: 66540
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MQRankSum
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SIO_000300: 9.73e-1

FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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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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bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 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
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European (Non-Finnish)
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allele num: 66536
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Other
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African
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South Asian
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QD
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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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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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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: 3

East Asian
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allele count: 0
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num of homozygotes: 0

Latino
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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66480
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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African
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allele num: 10362
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Latino
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Other
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FS
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DP
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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South Asian
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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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ReadPosRankSum
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MQ
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QD
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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: 8.25e1
variant carriers: 0

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

East Asian
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allele frequency: 6.963788300835655e-4
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African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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QD
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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

Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 1.972775695403433e-4
allele num: 10138
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

East Asian
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allele num: 8498
num of homozygotes: 0

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

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

GenotypeQuality
all individuals: 1856
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65648
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.994452e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.529e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.924e0