2-144765129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144765129
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144765129
    reference: chr 2
allele count: 4
allele frequency: 3.808073115003808e-5
allele num: 105040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.522-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.522-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.672-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.522-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.522-36800G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.522-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.369-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.522-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.522-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.522-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.135-27G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*553-27G>A
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20760
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

2-144765138-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144765138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144765139
    reference: chr 2
allele count: 2
allele frequency: 1.958902231189641e-5
allele num: 102098
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.522-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.135-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*553-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.522-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.522-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.522-36810dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.522-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.369-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.522-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.522-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.522-37dupT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.672-37dupT
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-144765138-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144765138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144765138
    reference: chr 2
allele count: 1
allele frequency: 9.794511155948206e-6
allele num: 102098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.522-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.522-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.522-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.522-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.522-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.135-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.369-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.672-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*553-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.522-36809C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.522-36C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.522-36C>A
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14770
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-144765138-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144765138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144765137
    reference: chr 2
allele count: 1
allele frequency: 9.794511155948206e-6
allele num: 102098
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.522-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.522-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.522-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.522-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.369-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.522-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.135-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.522-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.672-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.522-36810delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.522-37delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*553-37delT
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14770
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  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: European (Finnish)
population: Other
reference allele: GA
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-144765148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144765148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144765148
    reference: chr 2
allele count: 1
allele frequency: 1.002827974889188e-5
allele num: 99718
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.522-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.522-36819A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.672-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.522-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.369-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.522-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.135-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.522-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*553-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.522-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.522-46A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.522-46A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-144765154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144765154
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144765154
    reference: chr 2
allele count: 3
allele frequency: 3.055114261273371e-5
allele num: 98196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.522-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.672-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.522-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*553-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.135-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.522-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.522-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.522-36825T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.369-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.522-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.522-52T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.522-52T>C
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14684
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-144765154-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144765154
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144765153
    reference: chr 2
allele count: 101
allele frequency: 1.028555134628702e-3
allele num: 98196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*553-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.522-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.522-36826delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.522-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.369-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.135-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.672-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.522-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.522-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.522-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.522-53delA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.522-53delA
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14532
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14684
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 2
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: AT
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-144899400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899400
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899400
    reference: chr 2
allele count: 3
allele frequency: 2.529382999173735e-5
allele num: 118606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*552+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.521+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.368+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.134+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.521+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.671+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.521+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.521+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.521+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.521+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.521+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.521+49C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.444+49C>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-144899402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899402
    reference: chr 2
allele count: 1
allele frequency: 8.421052631578947e-6
allele num: 118750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.521+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.521+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.444+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.521+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.521+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.671+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.521+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*552+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.521+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.521+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.521+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.368+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.134+47C>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

2-144899412-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899412
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899412
    reference: chr 2
allele count: 1
allele frequency: 8.411702360323682e-6
allele num: 118882
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.521+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.521+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.521+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*552+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.521+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.368+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.521+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.521+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.521+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.444+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.521+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.134+37T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.671+37T>C
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

2-144899414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899414
    reference: chr 2
allele count: 2
allele frequency: 1.681887750811511e-5
allele num: 118914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*552+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.671+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.521+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.134+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.521+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.521+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.521+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.368+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.521+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.521+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.444+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.521+35C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.521+35C>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

2-144899416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899416
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899416
    reference: chr 2
allele count: 6
allele frequency: 5.045408678102926e-5
allele num: 118920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.521+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.521+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.671+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.521+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.521+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.521+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*552+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.444+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.521+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.134+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.521+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.368+33G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.521+33G>A
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-144899421-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899421
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899421
    reference: chr 2
allele count: 1
allele frequency: 8.387854386847844e-6
allele num: 119220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.521+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.368+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*552+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.521+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.521+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.444+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.671+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.521+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.521+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.521+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.521+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.134+28A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.521+28A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-144899442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899442
    reference: chr 2
allele count: 2
allele frequency: 1.663616702711695e-5
allele num: 120220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.521+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*552+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.521+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.521+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.368+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.521+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.521+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.134+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.521+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.671+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.444+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.521+7A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.521+7A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.521+7A>G
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-144899452-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899452
    reference: chr 2
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.518G>T
  hgvsp: ENSP00000438323.1:p.Ser173Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.668G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.441G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.131G>T
  hgvsp: ENSP00000437964.1:p.Ser44Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.518G>T
  hgvsp: ENSP00000241391.5:p.Ser173Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*549G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.518G>T
  hgvsp: ENSP00000376606.3:p.Ser173Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.518G>T
  hgvsp: ENSP00000376610.2:p.Ser173Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.518G>T
  hgvsp: ENSP00000376608.1:p.Ser173Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.518G>T
  hgvsp: ENSP00000386581.1:p.Ser173Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.518G>T
  hgvsp: ENSP00000403869.1:p.Ser173Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.518G>T
  hgvsp: ENSP00000386691.1:p.Ser173Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.518G>T
  hgvsp: ENSP00000339750.4:p.Ser173Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.365G>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser173Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-144899457-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899457
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899457
    reference: chr 2
allele count: 16
allele frequency: 1.325710497970006e-4
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.663T>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.513T>A
  hgvsp: ENSP00000339750.4:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.513T>A
  hgvsp: ENSP00000241391.5:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.513T>A
  hgvsp: ENSP00000403869.1:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.513T>A
  hgvsp: ENSP00000376610.2:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.513T>A
  hgvsp: ENSP00000438323.1:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.126T>A
  hgvsp: ENSP00000437964.1:p.Asp42Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*544T>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.513T>A
  hgvsp: ENSP00000386691.1:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.513T>A
  hgvsp: ENSP00000376606.3:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.513T>A
  hgvsp: ENSP00000386581.1:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.436T>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.513T>A
  hgvsp: ENSP00000376608.1:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.360T>A
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp171Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-144899474-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899474
    reference: chr 2
allele count: 3
allele frequency: 2.481225394514838e-5
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.343C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.496C>G
  hgvsp: ENSP00000386691.1:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.496C>G
  hgvsp: ENSP00000386581.1:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.496C>G
  hgvsp: ENSP00000438323.1:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.646C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.496C>G
  hgvsp: ENSP00000376606.3:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.496C>G
  hgvsp: ENSP00000241391.5:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.109C>G
  hgvsp: ENSP00000437964.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.496C>G
  hgvsp: ENSP00000376610.2:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*527C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.496C>G
  hgvsp: ENSP00000339750.4:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.496C>G
  hgvsp: ENSP00000403869.1:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.496C>G
  hgvsp: ENSP00000376608.1:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.419C>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro166Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-144899479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899479
    reference: chr 2
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.491A>G
  hgvsp: ENSP00000376606.3:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.491A>G
  hgvsp: ENSP00000403869.1:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.414A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.491A>G
  hgvsp: ENSP00000438323.1:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.104A>G
  hgvsp: ENSP00000437964.1:p.Tyr35Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.491A>G
  hgvsp: ENSP00000386691.1:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.491A>G
  hgvsp: ENSP00000339750.4:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.338A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*522A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.491A>G
  hgvsp: ENSP00000376610.2:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.491A>G
  hgvsp: ENSP00000376608.1:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.491A>G
  hgvsp: ENSP00000241391.5:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.491A>G
  hgvsp: ENSP00000386581.1:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.641A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr164Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-144899481-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899481
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899481
    reference: chr 2
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.489T>G
  hgvsp: ENSP00000438323.1:p.Ile163Met
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.489T>G
  hgvsp: ENSP00000241391.5:p.Ile163Met
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.489T>G
  hgvsp: ENSP00000386691.1:p.Ile163Met
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.639T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*520T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.489T>G
  hgvsp: ENSP00000376608.1:p.Ile163Met
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.489T>G
  hgvsp: ENSP00000376606.3:p.Ile163Met
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.412T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.489T>G
  hgvsp: ENSP00000386581.1:p.Ile163Met
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.102T>G
  hgvsp: ENSP00000437964.1:p.Ile34Met
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.489T>G
  hgvsp: ENSP00000403869.1:p.Ile163Met
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.489T>G
  hgvsp: ENSP00000339750.4:p.Ile163Met
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.336T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.489T>G
  hgvsp: ENSP00000376610.2:p.Ile163Met
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile163Met
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-144899482-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899482
    reference: chr 2
allele count: 667
allele frequency: 5.515405096995055e-3
allele num: 120934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.488T>C
  hgvsp: ENSP00000376606.3:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.488T>C
  hgvsp: ENSP00000376608.1:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.488T>C
  hgvsp: ENSP00000438323.1:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.488T>C
  hgvsp: ENSP00000339750.4:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.101T>C
  hgvsp: ENSP00000437964.1:p.Ile34Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.488T>C
  hgvsp: ENSP00000386691.1:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.488T>C
  hgvsp: ENSP00000386581.1:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.488T>C
  hgvsp: ENSP00000376610.2:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.411T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.488T>C
  hgvsp: ENSP00000403869.1:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.488T>C
  hgvsp: ENSP00000241391.5:p.Ile163Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*519T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.335T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.638T>C
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile163Thr
num of homozygotes: 26
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

2-144899487-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899487
    reference: chr 2
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.406A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.483A>T
  hgvsp: ENSP00000386581.1:p.Gln161His
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.483A>T
  hgvsp: ENSP00000241391.5:p.Gln161His
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.483A>T
  hgvsp: ENSP00000386691.1:p.Gln161His
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.633A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.483A>T
  hgvsp: ENSP00000376610.2:p.Gln161His
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.96A>T
  hgvsp: ENSP00000437964.1:p.Gln32His
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.483A>T
  hgvsp: ENSP00000339750.4:p.Gln161His
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.330A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.483A>T
  hgvsp: ENSP00000403869.1:p.Gln161His
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.483A>T
  hgvsp: ENSP00000376608.1:p.Gln161His
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*514A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.483A>T
  hgvsp: ENSP00000438323.1:p.Gln161His
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.483A>T
  hgvsp: ENSP00000376606.3:p.Gln161His
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln161His
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

2-144899495-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899495
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899496
    reference: chr 2
allele count: 3
allele frequency: 2.47950277704311e-5
allele num: 120992
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.474dupC
  hgvsp: ENSP00000241391.5:p.Lys159GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.474dupC
  hgvsp: ENSP00000438323.1:p.Lys159GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.624dupC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.474dupC
  hgvsp: ENSP00000339750.4:p.Lys159GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.474dupC
  hgvsp: ENSP00000386581.1:p.Lys159GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*505dupC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.87dupC
  hgvsp: ENSP00000437964.1:p.Lys30GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.474dupC
  hgvsp: ENSP00000376608.1:p.Lys159GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.397dupC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.474dupC
  hgvsp: ENSP00000376606.3:p.Lys159GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.474dupC
  hgvsp: ENSP00000376610.2:p.Lys159GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.474dupC
  hgvsp: ENSP00000386691.1:p.Lys159GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.321dupC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.474dupC
  hgvsp: ENSP00000403869.1:p.Lys159GlnfsTer13
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys159GlnfsTer13
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

2-144899507-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899507
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899506
    reference: chr 2
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.75delC
  hgvsp: ENSP00000437964.1:p.Ser25ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.462delC
  hgvsp: ENSP00000386691.1:p.Ser154ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.462delC
  hgvsp: ENSP00000241391.5:p.Ser154ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.612delC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*493delC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.462delC
  hgvsp: ENSP00000376606.3:p.Ser154ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.309delC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.385delC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.462delC
  hgvsp: ENSP00000386581.1:p.Ser154ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.462delC
  hgvsp: ENSP00000339750.4:p.Ser154ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.462delC
  hgvsp: ENSP00000403869.1:p.Ser154ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.462delC
  hgvsp: ENSP00000376610.2:p.Ser154ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.462delC
  hgvsp: ENSP00000376608.1:p.Ser154ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.462delC
  hgvsp: ENSP00000438323.1:p.Ser154ArgfsTer19
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser154ArgfsTer19
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: TG
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

2-144899509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899509
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899509
    reference: chr 2
allele count: 7
allele frequency: 5.78541084681885e-5
allele num: 120994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.461G>A
  hgvsp: ENSP00000438323.1:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.461G>A
  hgvsp: ENSP00000339750.4:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.384G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.461G>A
  hgvsp: ENSP00000376606.3:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.461G>A
  hgvsp: ENSP00000376610.2:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.461G>A
  hgvsp: ENSP00000386691.1:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.611G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.461G>A
  hgvsp: ENSP00000403869.1:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.461G>A
  hgvsp: ENSP00000386581.1:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.461G>A
  hgvsp: ENSP00000241391.5:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.308G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.74G>A
  hgvsp: ENSP00000437964.1:p.Ser25Asn
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*492G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.461G>A
  hgvsp: ENSP00000376608.1:p.Ser154Asn
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Ser154Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-144899518-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899518
    reference: chr 2
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.375A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.452A>G
  hgvsp: ENSP00000376608.1:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.452A>G
  hgvsp: ENSP00000339750.4:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.452A>G
  hgvsp: ENSP00000376606.3:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.602A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.452A>G
  hgvsp: ENSP00000376610.2:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.452A>G
  hgvsp: ENSP00000438323.1:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.452A>G
  hgvsp: ENSP00000403869.1:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.65A>G
  hgvsp: ENSP00000437964.1:p.Asp22Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.452A>G
  hgvsp: ENSP00000386691.1:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.452A>G
  hgvsp: ENSP00000241391.5:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.452A>G
  hgvsp: ENSP00000386581.1:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*483A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.299A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp151Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-144899523-GGGTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899518
    reference: chr 2
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.289_293delAGACC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.442_446delAGACC
  hgvsp: ENSP00000241391.5:p.Arg148GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.442_446delAGACC
  hgvsp: ENSP00000339750.4:p.Arg148GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.442_446delAGACC
  hgvsp: ENSP00000386581.1:p.Arg148GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.442_446delAGACC
  hgvsp: ENSP00000376608.1:p.Arg148GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.442_446delAGACC
  hgvsp: ENSP00000386691.1:p.Arg148GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.365_369delAGACC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.442_446delAGACC
  hgvsp: ENSP00000438323.1:p.Arg148GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.442_446delAGACC
  hgvsp: ENSP00000376606.3:p.Arg148GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.55_59delAGACC
  hgvsp: ENSP00000437964.1:p.Arg19GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.592_596delAGACC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*473_*477delAGACC
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.442_446delAGACC
  hgvsp: ENSP00000376610.2:p.Arg148GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.442_446delAGACC
  hgvsp: ENSP00000403869.1:p.Arg148GlnfsTer22
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg148GlnfsTer22
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: GGGTCT
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-144899524-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899524
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899524
    reference: chr 2
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*477C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.446C>G
  hgvsp: ENSP00000386691.1:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.446C>G
  hgvsp: ENSP00000241391.5:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.446C>G
  hgvsp: ENSP00000403869.1:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.446C>G
  hgvsp: ENSP00000386581.1:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.446C>G
  hgvsp: ENSP00000339750.4:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.446C>G
  hgvsp: ENSP00000438323.1:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.293C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.59C>G
  hgvsp: ENSP00000437964.1:p.Pro20Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.369C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.446C>G
  hgvsp: ENSP00000376606.3:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.596C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.446C>G
  hgvsp: ENSP00000376608.1:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.446C>G
  hgvsp: ENSP00000376610.2:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro149Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

2-144899537-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899536
    reference: chr 2
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.432delT
  hgvsp: ENSP00000438323.1:p.Pro145LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.432delT
  hgvsp: ENSP00000241391.5:p.Pro145LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.432delT
  hgvsp: ENSP00000386581.1:p.Pro145LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.432delT
  hgvsp: ENSP00000339750.4:p.Pro145LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.432delT
  hgvsp: ENSP00000376606.3:p.Pro145LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.432delT
  hgvsp: ENSP00000386691.1:p.Pro145LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.432delT
  hgvsp: ENSP00000403869.1:p.Pro145LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.355delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.582delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.45delT
  hgvsp: ENSP00000437964.1:p.Pro16LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.432delT
  hgvsp: ENSP00000376610.2:p.Pro145LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*463delT
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.432delT
  hgvsp: ENSP00000376608.1:p.Pro145LeufsTer28
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.279delT
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro145LeufsTer28
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: GA
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-144899543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899543
    reference: chr 2
allele count: 2
allele frequency: 1.653466492501529e-5
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.427C>T
  hgvsp: ENST00000409298.1:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.427C>T
  hgvsp: ENST00000344850.4:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.427C>T
  hgvsp: ENST00000241391.5:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.427C>T
  hgvsp: ENST00000392867.3:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.427C>T
  hgvsp: ENST00000392871.2:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.40C>T
  hgvsp: ENST00000463875.2:c.40C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.274C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.427C>T
  hgvsp: ENST00000392869.2:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.427C>T
  hgvsp: ENST00000409214.1:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*458C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.577C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.427C>T
  hgvsp: ENST00000542155.1:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.350C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.427C>T
  hgvsp: ENST00000437114.1:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu143Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-144899550-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899550
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899550
    reference: chr 2
allele count: 2
allele frequency: 1.653521173338625e-5
allele num: 120954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.33T>G
  hgvsp: ENSP00000437964.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.420T>G
  hgvsp: ENSP00000438323.1:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.420T>G
  hgvsp: ENSP00000376606.3:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.420T>G
  hgvsp: ENSP00000386691.1:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.267T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.420T>G
  hgvsp: ENSP00000241391.5:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.570T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.420T>G
  hgvsp: ENSP00000403869.1:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.420T>G
  hgvsp: ENSP00000339750.4:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.420T>G
  hgvsp: ENSP00000376608.1:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*451T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.420T>G
  hgvsp: ENSP00000376610.2:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.420T>G
  hgvsp: ENSP00000386581.1:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.343T>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe140Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-144899554-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899554
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899554
    reference: chr 2
allele count: 4
allele frequency: 3.307370475103769e-5
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.263A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.416A>T
  hgvsp: ENSP00000438323.1:p.Lys139Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.416A>T
  hgvsp: ENSP00000376608.1:p.Lys139Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*447A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.416A>T
  hgvsp: ENSP00000403869.1:p.Lys139Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.416A>T
  hgvsp: ENSP00000386581.1:p.Lys139Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.416A>T
  hgvsp: ENSP00000339750.4:p.Lys139Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.416A>T
  hgvsp: ENSP00000386691.1:p.Lys139Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.416A>T
  hgvsp: ENSP00000376610.2:p.Lys139Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.416A>T
  hgvsp: ENSP00000376606.3:p.Lys139Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.29A>T
  hgvsp: ENSP00000437964.1:p.Lys10Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.416A>T
  hgvsp: ENSP00000241391.5:p.Lys139Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.566A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.339A>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys139Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-144899555-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899555
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899555
    reference: chr 2
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.415A>G
  hgvsp: ENSP00000376608.1:p.Lys139Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.262A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.415A>G
  hgvsp: ENSP00000376606.3:p.Lys139Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.415A>G
  hgvsp: ENSP00000386691.1:p.Lys139Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.338A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.415A>G
  hgvsp: ENSP00000241391.5:p.Lys139Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.415A>G
  hgvsp: ENSP00000386581.1:p.Lys139Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.415A>G
  hgvsp: ENSP00000339750.4:p.Lys139Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.415A>G
  hgvsp: ENSP00000438323.1:p.Lys139Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.28A>G
  hgvsp: ENSP00000437964.1:p.Lys10Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.415A>G
  hgvsp: ENSP00000403869.1:p.Lys139Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.565A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.415A>G
  hgvsp: ENSP00000376610.2:p.Lys139Glu
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*446A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys139Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-144899559-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899559
    reference: chr 2
allele count: 69939
allele frequency: 5.781324912791178e-1
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.561G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.411G>T
  hgvsp: ENSP00000438323.1:p.Met137Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.411G>T
  hgvsp: ENSP00000376606.3:p.Met137Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.411G>T
  hgvsp: ENSP00000386691.1:p.Met137Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.411G>T
  hgvsp: ENSP00000386581.1:p.Met137Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.258G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.411G>T
  hgvsp: ENSP00000339750.4:p.Met137Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.24G>T
  hgvsp: ENSP00000437964.1:p.Met8Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.411G>T
  hgvsp: ENSP00000376608.1:p.Met137Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.411G>T
  hgvsp: ENSP00000376610.2:p.Met137Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.411G>T
  hgvsp: ENSP00000403869.1:p.Met137Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*442G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.411G>T
  hgvsp: ENSP00000241391.5:p.Met137Ile
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.334G>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 5.75e1
  variant carriers: 3809
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.25e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.75e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 6.25e1
  variant carriers: 4305
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 9.75e1
  variant carriers: 9118
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.25e1
  variant carriers: 4405
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 4.75e1
  variant carriers: 2393
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.25e1
  variant carriers: 600
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 8.75e1
  variant carriers: 2986
genotype quality: GenotypeQuality
hgvs: p.Met137Ile
num of homozygotes: 21223
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

2-144899561-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899561
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899561
    reference: chr 2
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.409A>G
  hgvsp: ENSP00000339750.4:p.Met137Val
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.409A>G
  hgvsp: ENSP00000386691.1:p.Met137Val
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.409A>G
  hgvsp: ENSP00000376606.3:p.Met137Val
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.409A>G
  hgvsp: ENSP00000376608.1:p.Met137Val
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.409A>G
  hgvsp: ENSP00000386581.1:p.Met137Val
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.409A>G
  hgvsp: ENSP00000438323.1:p.Met137Val
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.409A>G
  hgvsp: ENSP00000403869.1:p.Met137Val
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.256A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.409A>G
  hgvsp: ENSP00000241391.5:p.Met137Val
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.22A>G
  hgvsp: ENSP00000437964.1:p.Met8Val
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.332A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.559A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*440A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.409A>G
  hgvsp: ENSP00000376610.2:p.Met137Val
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met137Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-144899563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899563
    reference: chr 2
allele count: 5
allele frequency: 4.141609926610672e-5
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.254C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.20C>T
  hgvsp: ENSP00000437964.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.407C>T
  hgvsp: ENSP00000438323.1:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.407C>T
  hgvsp: ENSP00000376608.1:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.407C>T
  hgvsp: ENSP00000403869.1:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.407C>T
  hgvsp: ENSP00000376610.2:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.407C>T
  hgvsp: ENSP00000386691.1:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.557C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.407C>T
  hgvsp: ENSP00000339750.4:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.407C>T
  hgvsp: ENSP00000376606.3:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.407C>T
  hgvsp: ENSP00000386581.1:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.407C>T
  hgvsp: ENSP00000241391.5:p.Ser136Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.330C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*438C>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser136Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-144899568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899568
    reference: chr 2
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.325C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.402C>T
  hgvsp: ENST00000542155.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.402C>T
  hgvsp: ENST00000409214.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.402C>T
  hgvsp: ENST00000409298.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.402C>T
  hgvsp: ENST00000241391.5:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*433C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.402C>T
  hgvsp: ENST00000392871.2:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.15C>T
  hgvsp: ENST00000463875.2:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.402C>T
  hgvsp: ENST00000392869.2:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.552C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.402C>T
  hgvsp: ENST00000437114.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.402C>T
  hgvsp: ENST00000344850.4:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.402C>T
  hgvsp: ENST00000392867.3:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.249C>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu134Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

2-144899581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899581
    reference: chr 2
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.389T>C
  hgvsp: ENSP00000376608.1:p.Met130Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.389T>C
  hgvsp: ENSP00000241391.5:p.Met130Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.539T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.312T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.389T>C
  hgvsp: ENSP00000376610.2:p.Met130Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.389T>C
  hgvsp: ENSP00000386581.1:p.Met130Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.2T>C
  hgvsp: ENSP00000437964.1:p.Met1?
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.389T>C
  hgvsp: ENSP00000339750.4:p.Met130Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.389T>C
  hgvsp: ENSP00000376606.3:p.Met130Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.389T>C
  hgvsp: ENSP00000438323.1:p.Met130Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.389T>C
  hgvsp: ENSP00000386691.1:p.Met130Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.236T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.389T>C
  hgvsp: ENSP00000403869.1:p.Met130Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*420T>C
  variant of: http://identifiers.org/hgnc/20887
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-144899591-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899591
    reference: chr 2
allele count: 141
allele frequency: 1.174060751398881e-3
allele num: 120096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.379G>T
  hgvsp: ENSP00000376610.2:p.Val127Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.529G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.379G>T
  hgvsp: ENSP00000438323.1:p.Val127Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.379G>T
  hgvsp: ENSP00000386581.1:p.Val127Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.379G>T
  hgvsp: ENSP00000403869.1:p.Val127Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.379G>T
  hgvsp: ENSP00000241391.5:p.Val127Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.379G>T
  hgvsp: ENSP00000376606.3:p.Val127Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.379G>T
  hgvsp: ENSP00000376608.1:p.Val127Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-9G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.379G>T
  hgvsp: ENSP00000339750.4:p.Val127Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.226G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.379G>T
  hgvsp: ENSP00000386691.1:p.Val127Phe
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*410G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.302G>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29708
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Val127Phe
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-144899623-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899623
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899623
    reference: chr 2
allele count: 2
allele frequency: 1.695720002713152e-5
allele num: 117944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.195-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.498-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.348-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.348-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.271-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.348-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.348-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.348-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-40-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.348-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*379-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.348-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.348-1G>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.348-1G>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.348-1G>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-144899625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899625
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899625
    reference: chr 2
allele count: 1
allele frequency: 8.498631720293032e-6
allele num: 117666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.348-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.348-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.195-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*379-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.348-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.348-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.498-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.348-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.348-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-40-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.348-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.271-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.348-3C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.348-3C>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.348-3C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/2-144899627-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899627
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899627
    reference: chr 2
allele count: 1
allele frequency: 8.508900309723971e-6
allele num: 117524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.348-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-40-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.348-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.348-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.348-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.498-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.195-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*379-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.271-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.348-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.348-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.348-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.348-5T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.348-5T>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.348-5T>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

2-144899652-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899652
    reference: chr 2
allele count: 6
allele frequency: 5.228211428870183e-5
allele num: 114762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.498-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.348-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.348-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-40-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.348-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.348-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.348-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.195-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.348-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.348-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.348-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.271-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.348-30A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*379-30A>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9988
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

2-144899656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899656
    reference: chr 2
allele count: 2
allele frequency: 1.753678340318819e-5
allele num: 114046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.348-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.348-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*379-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.348-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-40-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.348-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.498-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.348-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.271-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.348-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.195-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.348-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.348-34G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.348-34G>A
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17643
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-144899664-C-CTGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144899664
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144899667
    reference: chr 2
allele count: 2
allele frequency: 1.786894912710184e-5
allele num: 111926
alternate allele: CTGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.271-43_271-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.348-43_348-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.348-43_348-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-40-43_-40-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*379-43_*379-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.348-43_348-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.348-43_348-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.348-43_348-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.348-43_348-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.498-43_498-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.348-43_348-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.348-43_348-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.348-43_348-42insTCA
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.195-43_195-42insTCA
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12094
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-144903092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903092
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903092
    reference: chr 2
allele count: 1
allele frequency: 8.810727942342596e-6
allele num: 113498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+47C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+47C>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-144903093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903093
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903093
    reference: chr 2
allele count: 1
allele frequency: 8.80126738250308e-6
allele num: 113620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+46T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+46T>C
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

2-144903098-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903098
    reference: chr 2
allele count: 8
allele frequency: 7.025308674499886e-5
allele num: 113874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+41C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+41C>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11520
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-144903109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903109
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903109
    reference: chr 2
allele count: 1
allele frequency: 8.74263433057649e-6
allele num: 114382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+30C>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+30C>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-144903114-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903114
    reference: chr 2
allele count: 1
allele frequency: 8.70716076901644e-6
allele num: 114848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+25T>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+25T>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-144903117-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903117
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903117
    reference: chr 2
allele count: 18
allele frequency: 1.564700359881083e-4
allele num: 115038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+22A>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+22A>T
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

2-144903120-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903120
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903120
    reference: chr 2
allele count: 2
allele frequency: 1.734876216581947e-5
allele num: 115282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+19A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+19A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

2-144903131-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903131
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903131
    reference: chr 2
allele count: 4
allele frequency: 3.428649797709662e-5
allele num: 116664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+8T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+8T>C
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.347+8T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

2-144903134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903134
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903134
    reference: chr 2
allele count: 1
allele frequency: 8.545109633756601e-6
allele num: 117026
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+5G>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+5G>A
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.347+5G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

2-144903135-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903135
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903135
    reference: chr 2
allele count: 2
allele frequency: 1.705844222305619e-5
allele num: 117244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+4G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+4G>C
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.347+4G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

2-144903136-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903136
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903136
    reference: chr 2
allele count: 3
allele frequency: 2.554191428133567e-5
allele num: 117454
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347+3A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270+3A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.347+3A>G
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-144903139-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903139
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903139
    reference: chr 2
allele count: 3
allele frequency: 2.544701930580531e-5
allele num: 117892
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.347G>C
  hgvsp: ENSP00000376608.1:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.270G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.347G>C
  hgvsp: ENSP00000376610.2:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*378G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.347G>C
  hgvsp: ENSP00000339750.4:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.347G>C
  hgvsp: ENSP00000438323.1:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.347G>C
  hgvsp: ENSP00000386581.1:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.347G>C
  hgvsp: ENSP00000376606.3:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.347G>C
  hgvsp: ENSP00000241391.5:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.347G>C
  hgvsp: ENSP00000386691.1:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.347G>C
  hgvsp: ENSP00000403869.1:p.Cys116Ser
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.497G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-41G>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.194G>C
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys116Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-144903141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903141
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903141
    reference: chr 2
allele count: 2
allele frequency: 1.692276450280918e-5
allele num: 118184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.495A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.192A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.268A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.345A>G
  hgvsp: ENST00000542155.1:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.345A>G
  hgvsp: ENST00000392867.3:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.345A>G
  hgvsp: ENST00000344850.4:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.345A>G
  hgvsp: ENST00000392869.2:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*376A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.345A>G
  hgvsp: ENST00000392871.2:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.345A>G
  hgvsp: ENST00000437114.1:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.345A>G
  hgvsp: ENST00000409214.1:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.345A>G
  hgvsp: ENST00000409298.1:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.345A>G
  hgvsp: ENST00000241391.5:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-43A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12744
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.345A>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

2-144903143-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903143
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903143
    reference: chr 2
allele count: 11
allele frequency: 9.285521339816316e-5
allele num: 118464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.343T>C
  hgvsp: ENSP00000376606.3:p.Ser115Pro
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.343T>C
  hgvsp: ENSP00000376608.1:p.Ser115Pro
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.343T>C
  hgvsp: ENSP00000403869.1:p.Ser115Pro
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.343T>C
  hgvsp: ENSP00000386581.1:p.Ser115Pro
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.343T>C
  hgvsp: ENSP00000438323.1:p.Ser115Pro
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.343T>C
  hgvsp: ENSP00000339750.4:p.Ser115Pro
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.493T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-45T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.343T>C
  hgvsp: ENSP00000386691.1:p.Ser115Pro
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.343T>C
  hgvsp: ENSP00000241391.5:p.Ser115Pro
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.190T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*374T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.343T>C
  hgvsp: ENSP00000376610.2:p.Ser115Pro
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.266T>C
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser115Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-144903147-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903147
    reference: chr 2
allele count: 1
allele frequency: 8.412976174451474e-6
allele num: 118864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.489T>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.339T>A
  hgvsp: ENST00000392867.3:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.339T>A
  hgvsp: ENST00000241391.5:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.262T>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.339T>A
  hgvsp: ENST00000392869.2:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.339T>A
  hgvsp: ENST00000392871.2:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.339T>A
  hgvsp: ENST00000409214.1:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.339T>A
  hgvsp: ENST00000542155.1:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.339T>A
  hgvsp: ENST00000344850.4:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.339T>A
  hgvsp: ENST00000409298.1:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*370T>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.339T>A
  hgvsp: ENST00000437114.1:c.339T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-49T>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.186T>A
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile113Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-144903148-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903148
    reference: chr 2
allele count: 1
allele frequency: 8.406610958858046e-6
allele num: 118954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.338T>C
  hgvsp: ENSP00000339750.4:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.338T>C
  hgvsp: ENSP00000386691.1:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.338T>C
  hgvsp: ENSP00000386581.1:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.338T>C
  hgvsp: ENSP00000403869.1:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.338T>C
  hgvsp: ENSP00000438323.1:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.338T>C
  hgvsp: ENSP00000376606.3:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.338T>C
  hgvsp: ENSP00000241391.5:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*369T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.261T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.185T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-50T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.338T>C
  hgvsp: ENSP00000376610.2:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.488T>C
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.338T>C
  hgvsp: ENSP00000376608.1:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile113Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-144903150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903150
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903150
    reference: chr 2
allele count: 2
allele frequency: 1.679176531828791e-5
allele num: 119106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-52A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.336A>G
  hgvsp: ENST00000241391.5:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.336A>G
  hgvsp: ENST00000344850.4:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.336A>G
  hgvsp: ENST00000392869.2:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.336A>G
  hgvsp: ENST00000437114.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*367A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.336A>G
  hgvsp: ENST00000392871.2:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.336A>G
  hgvsp: ENST00000409214.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.336A>G
  hgvsp: ENST00000542155.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.259A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.336A>G
  hgvsp: ENST00000392867.3:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.183A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.336A>G
  hgvsp: ENST00000409298.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.486A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln112Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-144903153-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903153
    reference: chr 2
allele count: 1
allele frequency: 8.379841453399702e-6
allele num: 119334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-55C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.333C>A
  hgvsp: ENSP00000376608.1:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.483C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.333C>A
  hgvsp: ENSP00000376606.3:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.333C>A
  hgvsp: ENSP00000241391.5:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.333C>A
  hgvsp: ENSP00000339750.4:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.256C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*364C>A
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.333C>A
  hgvsp: ENSP00000386691.1:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.333C>A
  hgvsp: ENSP00000403869.1:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.333C>A
  hgvsp: ENSP00000438323.1:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.333C>A
  hgvsp: ENSP00000376610.2:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.333C>A
  hgvsp: ENSP00000386581.1:p.Asn111Lys
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.180C>A
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn111Lys
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-144903159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903159
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903159
    reference: chr 2
allele count: 37
allele frequency: 3.087449933244326e-4
allele num: 119840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.327A>G
  hgvsp: ENST00000542155.1:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-61A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.327A>G
  hgvsp: ENST00000392867.3:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.250A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.327A>G
  hgvsp: ENST00000392869.2:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.477A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.327A>G
  hgvsp: ENST00000344850.4:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.174A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.327A>G
  hgvsp: ENST00000437114.1:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.327A>G
  hgvsp: ENST00000241391.5:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.327A>G
  hgvsp: ENST00000409214.1:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.327A>G
  hgvsp: ENST00000392871.2:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.327A>G
  hgvsp: ENST00000409298.1:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*358A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12406
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly109Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-144903165-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903165
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903165
    reference: chr 2
allele count: 4
allele frequency: 3.327178053933557e-5
allele num: 120222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.321A>G
  hgvsp: ENST00000409298.1:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.321A>G
  hgvsp: ENST00000392869.2:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.321A>G
  hgvsp: ENST00000344850.4:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*352A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.321A>G
  hgvsp: ENST00000542155.1:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.321A>G
  hgvsp: ENST00000409214.1:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.244A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.321A>G
  hgvsp: ENST00000392871.2:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.321A>G
  hgvsp: ENST00000392867.3:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.321A>G
  hgvsp: ENST00000241391.5:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.471A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.168A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.321A>G
  hgvsp: ENST00000437114.1:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-67A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln107Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-144903166-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903166
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903166
    reference: chr 2
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.320A>G
  hgvsp: ENSP00000438323.1:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.320A>G
  hgvsp: ENSP00000376608.1:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.320A>G
  hgvsp: ENSP00000386581.1:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.320A>G
  hgvsp: ENSP00000386691.1:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.320A>G
  hgvsp: ENSP00000339750.4:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376610
  ensembl transcript: ENST00000392871
  gene symbol: GTDC1
  hgvsc: ENST00000392871.2:c.320A>G
  hgvsp: ENSP00000376610.2:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000401137
  ensembl transcript: ENST00000415569
  gene symbol: GTDC1
  hgvsc: ENST00000415569.1:c.*351A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.320A>G
  hgvsp: ENSP00000241391.5:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.320A>G
  hgvsp: ENSP00000376606.3:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.167A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000403869
  ensembl transcript: ENST00000437114
  gene symbol: GTDC1
  hgvsc: ENST00000437114.1:c.320A>G
  hgvsp: ENSP00000403869.1:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.470A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-68A>G
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000482601
  gene symbol: GTDC1
  hgvsc: ENST00000482601.1:n.243A>G
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln107Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

2-144903167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144903167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 144903167
    reference: chr 2
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386581
  ensembl transcript: ENST00000409214
  gene symbol: GTDC1
  hgvsc: ENST00000409214.1:c.319C>T
  hgvsp: ENSP00000386581.1:p.Gln107Ter
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376606
  ensembl transcript: ENST00000392867
  gene symbol: GTDC1
  hgvsc: ENST00000392867.3:c.319C>T
  hgvsp: ENSP00000376606.3:p.Gln107Ter
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000491448
  gene symbol: GTDC1
  hgvsc: ENST00000491448.1:n.469C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000376608
  ensembl transcript: ENST00000392869
  gene symbol: GTDC1
  hgvsc: ENST00000392869.2:c.319C>T
  hgvsp: ENSP00000376608.1:p.Gln107Ter
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000241391
  ensembl transcript: ENST00000241391
  gene symbol: GTDC1
  hgvsc: ENST00000241391.5:c.319C>T
  hgvsp: ENSP00000241391.5:p.Gln107Ter
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000437964
  ensembl transcript: ENST00000463875
  gene symbol: GTDC1
  hgvsc: ENST00000463875.2:c.-69C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000339750
  ensembl transcript: ENST00000344850
  gene symbol: GTDC1
  hgvsc: ENST00000344850.4:c.319C>T
  hgvsp: ENSP00000339750.4:p.Gln107Ter
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000386691
  ensembl transcript: ENST00000409298
  gene symbol: GTDC1
  hgvsc: ENST00000409298.1:c.319C>T
  hgvsp: ENSP00000386691.1:p.Gln107Ter
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121964
  ensembl transcript: ENST00000476958
  gene symbol: GTDC1
  hgvsc: ENST00000476958.1:n.166C>T
  variant of: http://identifiers.org/hgnc/20887
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121964
  ensembl protein: ENSP00000438323
  ensembl transcript: ENST00000542155
  gene symbol: GTDC1
  hgvsc: ENST00000542155.1:c.319C>T
  hgvsp: ENSP00000438323.1:p.Gln107Ter
  variant of: http://identifiers.org/hgnc/20887
canonical: true
consequence: stop gained
filter: PASS
hgvs: p.Gln107Ter
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 1127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3817
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8007
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2752
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60332
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.759398496240602e-4
allele num: 7980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.068832834544677e-4
allele num: 9356
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.275211e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.587e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.519e1

FS
type: SiteQuality
SIO_000300: 1.193e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
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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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.702011777921503e-5
allele num: 58754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.135331516802906e-4
allele num: 8808
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.185448e6

FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.09e-1

MQRankSum
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QD
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SIO_000300: 9.050000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.702011777921503e-5
allele num: 58754
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10820
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQRankSum
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SIO_000300: 1.39e-1

DP
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SIO_000300: 1.185448e6

BaseQRankSum
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FS
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SIO_000300: 2.237e0

VQSLOD
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.702011777921503e-5
allele num: 58754
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10820
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

FS
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SIO_000300: 2.237e0

ClippingRankSum
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SIO_000300: -3.2e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: 2.25e-2

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.09e-1

VQSLOD
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SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.185448e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57242
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.335826876836762e-4
allele num: 7486
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 6.31e0

MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: 1.08e0

MQRankSum
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SIO_000300: 6.18e-1

BaseQRankSum
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SIO_000300: -1.883e0

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: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.332954101041704e-5
allele num: 56254
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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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: 96

Other
type: Population
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allele frequency: 1.404494382022472e-3
allele num: 712
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

African
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allele frequency: 1.09851169383416e-2
allele num: 8466
num of homozygotes: 2

Latino
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allele frequency: 3.757985719654265e-4
allele num: 10644
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.332954101041704e-5
allele num: 56254
num of homozygotes: 0

South Asian
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East Asian
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BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1863
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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Other
type: Population
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European (Non-Finnish)
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European (Finnish)
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.4e-2

ReadPosRankSum
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DP
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SIO_000300: 2.674583e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515656734062869e-5
allele num: 65978
num of homozygotes: 0

FS
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: -2.523e0

ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -1.457e0

VQSLOD
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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SIO_000300: 2.684955e6

InbreedingCoeff
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SIO_000300: 9.5e-3

VQSLOD
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MQRankSum
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.02929326588107e-5
allele num: 66022
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.234e0

DP
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SIO_000300: 2.687879e6

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

FS
type: SiteQuality
SIO_000300: 7.553e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.137e1

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 6
allele frequency: 3.930302633302764e-4
allele num: 15266
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ReadPosRankSum
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SIO_000300: 6.36e-1

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.80126738250308e-5
allele num: 11362
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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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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QD
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MQ
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BaseQRankSum
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VQSLOD
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DP
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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num of homozygotes: 0

East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66332
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European (Finnish)
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South Asian
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 0
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European (Non-Finnish)
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allele frequency: 1.505797319680771e-5
allele num: 66410
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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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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num of homozygotes: 0

Other
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num of homozygotes: 0

QD
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DP
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InbreedingCoeff
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SIO_000300: 9.5e-3

MQ
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 1.541128876902331e-3
allele num: 10382
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele count: 2
allele frequency: 1.75377060680463e-4
allele num: 11404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 2.65e0

MQ
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SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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SIO_000300: 7.900000000000001e-3

FS
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ReadPosRankSum
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DP
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SIO_000300: 2.737454e6

ClippingRankSum
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SIO_000300: -2.42e-1

QD
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SIO_000300: 1.314e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

Other
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num of homozygotes: 0

African
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allele num: 10394
num of homozygotes: 0

MQRankSum
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SIO_000300: 6.899999999999999e-1

ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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SIO_000300: 4.72e0

FS
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DP
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ReadPosRankSum
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SIO_000300: -4.09e-1

VQSLOD
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QD
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SIO_000300: 1.064e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

African
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South Asian
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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 count: 0
allele frequency: 0.0e0
allele num: 11404
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BaseQRankSum
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SIO_000300: 3.89e0

FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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DP
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InbreedingCoeff
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SIO_000300: 1.5e-3

QD
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GenotypeDepth
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variant carriers: 36

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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variant carriers: 641

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

South Asian
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allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 2.279502016482553e-3
allele num: 11406
num of homozygotes: 0

East Asian
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African
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allele frequency: 6.022705406965557e-2
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Other
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European (Non-Finnish)
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DP
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InbreedingCoeff
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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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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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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variant carriers: 0

Other
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num of homozygotes: 0

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

Latino
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African
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 2.752398e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 5.932e0

QD
type: SiteQuality
SIO_000300: 1.173e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeDepth
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bin: 5.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819063788503517e-4
allele num: 16492
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
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: 11418
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

DP
type: SiteQuality
SIO_000300: 2.752799e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 6.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

MQ
type: SiteQuality
SIO_000300: 6.055e1

QD
type: SiteQuality
SIO_000300: 1.51e1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 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: 16498
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.183e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.753059e6

GenotypeDepth
all individuals: 7103
bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2171
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 173
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1606
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GenotypeQuality
all individuals: 1973
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051303616484441e-4
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
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: 8604
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

QD
type: SiteQuality
SIO_000300: 1.411e1

DP
type: SiteQuality
SIO_000300: 2.753447e6

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 920
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
all individuals: 5909
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.283e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.16e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.753055e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
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SIO_000300: 2.92e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

Other
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MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.298e0

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
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MQ
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.536999999999999e-1

DP
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MQRankSum
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QD
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.054e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004266057802079e-5
allele num: 66572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.752879e6

BaseQRankSum
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SIO_000300: -2.856e0

ReadPosRankSum
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SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.604e0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.326122354035822e-4
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 4.6e-1

MQRankSum
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SIO_000300: 1.02e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 2.75287e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

GenotypeDepth
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bin: 7.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.009254251547383e-5
allele num: 66564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -1.369e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 2.967e1

FS
type: SiteQuality
SIO_000300: 1.781e0

VQSLOD
type: SiteQuality
SIO_000300: -9.465e-1

MQRankSum
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SIO_000300: 1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.75322e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

African
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allele count: 1
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allele num: 10378
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.53e-1

MQRankSum
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SIO_000300: 1.56e0

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 2.753068e6

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 1664

GenotypeDepth
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variant carriers: 1051

GenotypeDepth
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variant carriers: 3174

GenotypeDepth
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GenotypeDepth
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variant carriers: 4061

GenotypeDepth
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variant carriers: 4392

GenotypeDepth
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variant carriers: 3578

GenotypeDepth
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variant carriers: 2395

GenotypeQuality
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variant carriers: 20

GenotypeQuality
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variant carriers: 51

GenotypeQuality
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GenotypeQuality
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variant carriers: 36

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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variant carriers: 70

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 89

GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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variant carriers: 47970

GenotypeQuality
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GenotypeQuality
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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: 73

GenotypeQuality
all individuals: 638
bin: 7.25e1
variant carriers: 57

European (Finnish)
type: Population
allele count: 3205
allele frequency: 4.863429438543247e-1
allele num: 6590
num of homozygotes: 774

African
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allele count: 7583
allele frequency: 7.308211256746338e-1
allele num: 10376
num of homozygotes: 2764

Latino
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allele count: 9002
allele frequency: 7.875765529308837e-1
allele num: 11430
num of homozygotes: 3615

East Asian
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allele count: 7204
allele frequency: 8.372849837284984e-1
allele num: 8604
num of homozygotes: 3017

European (Non-Finnish)
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allele count: 32841
allele frequency: 4.933599735600757e-1
allele num: 66566
num of homozygotes: 8065

Other
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allele count: 531
allele frequency: 5.860927152317881e-1
allele num: 906
num of homozygotes: 159

South Asian
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allele count: 9573
allele frequency: 5.801115016361653e-1
allele num: 16502
num of homozygotes: 2829

QD
type: SiteQuality
SIO_000300: 2.144e1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.49e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 1.144e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.635e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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allele frequency: 4.845900368288428e-4
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South Asian
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Other
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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South Asian
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 1.011736139214893e-4
allele num: 9884
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65170
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.535956747457992e-5
allele num: 65106
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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BaseQRankSum
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DP
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FS
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63934
num of homozygotes: 0

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

Latino
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allele frequency: 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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Other
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num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 4.109589041095891e-4
allele num: 14600
num of homozygotes: 0

African
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.532893e6

MQ
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: -1.11e-1

QD
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MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
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SIO_000300: 2.49e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63618
num of homozygotes: 0

South Asian
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allele count: 2
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allele num: 14364
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.190199706501627e-5
allele num: 62692
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Other
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African
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East Asian
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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Other
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DP
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8484
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European (Finnish)
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Latino
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

Latino
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allele frequency: 8.882572392965002e-5
allele num: 11258
num of homozygotes: 0

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

European (Finnish)
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allele 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

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

European (Non-Finnish)
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allele frequency: 1.083356548116507e-4
allele num: 64614
num of homozygotes: 0

QD
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DP
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.34e-2

MQ
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SIO_000300: 6.0e1

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: 6526
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.54435384235236e-5
allele num: 64752
num of homozygotes: 0

VQSLOD
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MQRankSum
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MQ
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FS
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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SIO_000300: 5.0e-4

BaseQRankSum
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SIO_000300: 3.59e0

ReadPosRankSum
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SIO_000300: 8.179999999999999e-1

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

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

South Asian
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allele count: 1
allele frequency: 7.846829880728186e-5
allele num: 12744
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64886
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.745e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.998835e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12846
num of homozygotes: 0

European (Non-Finnish)
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allele count: 18
allele frequency: 2.771362586605081e-4
allele num: 64950
num of homozygotes: 0

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

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

African
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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SIO_000300: 1.2e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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Latino
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European (Non-Finnish)
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African
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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VQSLOD
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FS
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 2.33590282644242e-4
allele num: 8562
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.528164063693878e-5
allele num: 65438
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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ReadPosRankSum
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SIO_000300: -9.23e-1

QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.527370478983382e-5
allele num: 65472
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.64783759929391e-4
allele num: 11330
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Other
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QD
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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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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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Latino
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South Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Other
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Latino
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European (Non-Finnish)
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African
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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East Asian
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Latino
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Other
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518141794443601e-5
allele num: 65870
num of homozygotes: 0

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

VQSLOD
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MQ
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ClippingRankSum
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SIO_000300: -1.784e0

QD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 9.5e-1

VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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SIO_000300: 2.053889e6

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65952
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.733e0

DP
type: SiteQuality
SIO_000300: 2.055623e6

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.714e1

ReadPosRankSum
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SIO_000300: -2.53e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 4.0e-3

MQRankSum
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SIO_000300: -3.05e-1

ClippingRankSum
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SIO_000300: 6.860000000000001e-1

BaseQRankSum
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SIO_000300: 4.62e0

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.399590426212723e-5
allele num: 15626
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8592
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
allele num: 6548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.939e0

FS
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VQSLOD
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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SIO_000300: -1.262e0

MQRankSum
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SIO_000300: 1.21e0

ClippingRankSum
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SIO_000300: 1.21e0

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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bin: 5.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 2

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

Latino
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allele count: 2
allele frequency: 1.76056338028169e-4
allele num: 11360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.209226397412255e-4
allele num: 66158
num of homozygotes: 0

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

South Asian
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allele count: 9
allele frequency: 5.637684790779253e-4
allele num: 15964
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

East Asian
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allele count: 17
allele frequency: 1.978584729981378e-3
allele num: 8592
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VQSLOD
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FS
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
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allele num: 16240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
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: 0
allele frequency: 0.0e0
allele num: 10332
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.039012017633915e-5
allele num: 66236
num of homozygotes: 0

FS
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SIO_000300: 2.168e0

MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

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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variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14324
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3291
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19979
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

VQSLOD
type: SiteQuality
SIO_000300: -1.92e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

FS
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 2.070215e6