2-223084850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084850
    reference: chr 2
allele count: 3
allele frequency: 2.573649263078428e-5
allele num: 116566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1173+9C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.404+9C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1173+9C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1173+9C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1170+9C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.597+9C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1173+9C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1173+9C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-223084866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084866
    reference: chr 2
allele count: 1
allele frequency: 8.424883736604435e-6
allele num: 118696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.590C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1166C>T
  hgvsp: ENSP00000375921.2:p.Ser389Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1166C>T
  hgvsp: ENSP00000375922.2:p.Ser389Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1163C>T
  hgvsp: ENSP00000386750.3:p.Ser388Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1166C>T
  hgvsp: ENSP00000343052.4:p.Ser389Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1166C>T
  hgvsp: ENSP00000342092.4:p.Ser389Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1166C>T
  hgvsp: ENSP00000338767.5:p.Ser389Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.397C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser389Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

2-223084881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084881
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084881
    reference: chr 2
allele count: 13
allele frequency: 1.084671094349698e-4
allele num: 119852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1151T>C
  hgvsp: ENSP00000343052.4:p.Ile384Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.382T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1151T>C
  hgvsp: ENSP00000375922.2:p.Ile384Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1151T>C
  hgvsp: ENSP00000338767.5:p.Ile384Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1151T>C
  hgvsp: ENSP00000375921.2:p.Ile384Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1151T>C
  hgvsp: ENSP00000342092.4:p.Ile384Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1148T>C
  hgvsp: ENSP00000386750.3:p.Ile383Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.575T>C
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile384Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-223084885-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084885
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084885
    reference: chr 2
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1147A>G
  hgvsp: ENSP00000342092.4:p.Thr383Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1147A>G
  hgvsp: ENSP00000375922.2:p.Thr383Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.571A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1147A>G
  hgvsp: ENSP00000375921.2:p.Thr383Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1147A>G
  hgvsp: ENSP00000338767.5:p.Thr383Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1144A>G
  hgvsp: ENSP00000386750.3:p.Thr382Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1147A>G
  hgvsp: ENSP00000343052.4:p.Thr383Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.378A>G
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr383Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-223084887-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084887
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084887
    reference: chr 2
allele count: 2
allele frequency: 1.66591700401486e-5
allele num: 120054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1142C>A
  hgvsp: ENSP00000386750.3:p.Pro381His
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.376C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1145C>A
  hgvsp: ENSP00000338767.5:p.Pro382His
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.569C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1145C>A
  hgvsp: ENSP00000343052.4:p.Pro382His
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1145C>A
  hgvsp: ENSP00000375922.2:p.Pro382His
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1145C>A
  hgvsp: ENSP00000342092.4:p.Pro382His
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1145C>A
  hgvsp: ENSP00000375921.2:p.Pro382His
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36744
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro382His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-223084889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084889
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084889
    reference: chr 2
allele count: 1
allele frequency: 8.323483877411729e-6
allele num: 120142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1143C>T
  hgvsp: ENST00000350526.4:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1143C>T
  hgvsp: ENST00000336840.6:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1143C>T
  hgvsp: ENST00000392070.2:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.374C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1143C>T
  hgvsp: ENST00000344493.4:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.567C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1140C>T
  hgvsp: ENST00000409551.3:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1143C>T
  hgvsp: ENST00000392069.2:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn381Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-223084893-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084893
    reference: chr 2
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1139T>C
  hgvsp: ENSP00000343052.4:p.Met380Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.370T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1139T>C
  hgvsp: ENSP00000338767.5:p.Met380Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1139T>C
  hgvsp: ENSP00000375922.2:p.Met380Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1136T>C
  hgvsp: ENSP00000386750.3:p.Met379Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1139T>C
  hgvsp: ENSP00000375921.2:p.Met380Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1139T>C
  hgvsp: ENSP00000342092.4:p.Met380Thr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.563T>C
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37564
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met380Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-223084894-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084894
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084894
    reference: chr 2
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.369A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1138A>G
  hgvsp: ENSP00000375921.2:p.Met380Val
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1138A>G
  hgvsp: ENSP00000375922.2:p.Met380Val
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1138A>G
  hgvsp: ENSP00000342092.4:p.Met380Val
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1138A>G
  hgvsp: ENSP00000338767.5:p.Met380Val
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1138A>G
  hgvsp: ENSP00000343052.4:p.Met380Val
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1135A>G
  hgvsp: ENSP00000386750.3:p.Met379Val
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.562A>G
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37727
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met380Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

2-223084897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084897
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084897
    reference: chr 2
allele count: 23
allele frequency: 1.910394205691314e-4
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1135C>T
  hgvsp: ENSP00000343052.4:p.Pro379Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1135C>T
  hgvsp: ENSP00000375922.2:p.Pro379Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.559C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1135C>T
  hgvsp: ENSP00000342092.4:p.Pro379Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1135C>T
  hgvsp: ENSP00000375921.2:p.Pro379Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.366C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1132C>T
  hgvsp: ENSP00000386750.3:p.Pro378Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1135C>T
  hgvsp: ENSP00000338767.5:p.Pro379Ser
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29812
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13866
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro379Ser
num of homozygotes: 1
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

2-223084910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084910
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084910
    reference: chr 2
allele count: 2
allele frequency: 1.658182300562124e-5
allele num: 120614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1119G>A
  hgvsp: ENST00000409551.3:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1122G>A
  hgvsp: ENST00000392070.2:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1122G>A
  hgvsp: ENST00000344493.4:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1122G>A
  hgvsp: ENST00000392069.2:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.546G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1122G>A
  hgvsp: ENST00000336840.6:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.353G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1122G>A
  hgvsp: ENST00000350526.4:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser374Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-223084913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084913
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084913
    reference: chr 2
allele count: 4
allele frequency: 3.312794010468429e-5
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1119G>A
  hgvsp: ENST00000392070.2:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1119G>A
  hgvsp: ENST00000350526.4:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1119G>A
  hgvsp: ENST00000392069.2:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1116G>A
  hgvsp: ENST00000409551.3:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.350G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1119G>A
  hgvsp: ENST00000336840.6:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1119G>A
  hgvsp: ENST00000344493.4:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.543G>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro373Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-223084913-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084913
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084913
    reference: chr 2
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1119G>T
  hgvsp: ENST00000350526.4:c.1119G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1119G>T
  hgvsp: ENST00000392070.2:c.1119G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1116G>T
  hgvsp: ENST00000409551.3:c.1116G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.543G>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1119G>T
  hgvsp: ENST00000392069.2:c.1119G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1119G>T
  hgvsp: ENST00000336840.6:c.1119G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1119G>T
  hgvsp: ENST00000344493.4:c.1119G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.350G>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro373Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-223084914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084914
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084914
    reference: chr 2
allele count: 34
allele frequency: 2.815035601920848e-4
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1118C>T
  hgvsp: ENSP00000375922.2:p.Pro373Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1118C>T
  hgvsp: ENSP00000342092.4:p.Pro373Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1118C>T
  hgvsp: ENSP00000375921.2:p.Pro373Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1115C>T
  hgvsp: ENSP00000386750.3:p.Pro372Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1118C>T
  hgvsp: ENSP00000343052.4:p.Pro373Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.349C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1118C>T
  hgvsp: ENSP00000338767.5:p.Pro373Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.542C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14894
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9420
  bin: 9.75e1
  variant carriers: 33
hgvs: p.Pro373Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-223084916-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084916
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084916
    reference: chr 2
allele count: 8
allele frequency: 6.619447938041967e-5
allele num: 120856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.540T>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1116T>A
  hgvsp: ENST00000336840.6:c.1116T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1116T>A
  hgvsp: ENST00000392069.2:c.1116T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1113T>A
  hgvsp: ENST00000409551.3:c.1113T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1116T>A
  hgvsp: ENST00000392070.2:c.1116T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.347T>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1116T>A
  hgvsp: ENST00000350526.4:c.1116T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1116T>A
  hgvsp: ENST00000344493.4:c.1116T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14972
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro372Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-223084917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084917
    reference: chr 2
allele count: 4
allele frequency: 3.309176346007479e-5
allele num: 120876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.539C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1115C>T
  hgvsp: ENSP00000342092.4:p.Pro372Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1115C>T
  hgvsp: ENSP00000343052.4:p.Pro372Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1115C>T
  hgvsp: ENSP00000338767.5:p.Pro372Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.346C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1115C>T
  hgvsp: ENSP00000375922.2:p.Pro372Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1112C>T
  hgvsp: ENSP00000386750.3:p.Pro371Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1115C>T
  hgvsp: ENSP00000375921.2:p.Pro372Leu
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro372Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-223084922-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084922
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084922
    reference: chr 2
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1110T>C
  hgvsp: ENST00000336840.6:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.534T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.341T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1107T>C
  hgvsp: ENST00000409551.3:c.1107T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1110T>C
  hgvsp: ENST00000392069.2:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1110T>C
  hgvsp: ENST00000392070.2:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1110T>C
  hgvsp: ENST00000350526.4:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1110T>C
  hgvsp: ENST00000344493.4:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe370Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-223084931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084931
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084931
    reference: chr 2
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1101A>G
  hgvsp: ENST00000392069.2:c.1101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1101A>G
  hgvsp: ENST00000344493.4:c.1101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1101A>G
  hgvsp: ENST00000392070.2:c.1101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1101A>G
  hgvsp: ENST00000350526.4:c.1101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1098A>G
  hgvsp: ENST00000409551.3:c.1098A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1101A>G
  hgvsp: ENST00000336840.6:c.1101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.332A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.525A>G
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr367Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-223084933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084933
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084933
    reference: chr 2
allele count: 2
allele frequency: 1.652455548945733e-5
allele num: 121032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.330A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1099A>G
  hgvsp: ENSP00000342092.4:p.Thr367Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1099A>G
  hgvsp: ENSP00000338767.5:p.Thr367Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1099A>G
  hgvsp: ENSP00000375922.2:p.Thr367Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1099A>G
  hgvsp: ENSP00000375921.2:p.Thr367Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1099A>G
  hgvsp: ENSP00000343052.4:p.Thr367Ala
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.523A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1096A>G
  hgvsp: ENSP00000386750.3:p.Thr366Ala
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr367Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-223084936-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084936
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084936
    reference: chr 2
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.520T>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1096T>A
  hgvsp: ENSP00000375921.2:p.Tyr366Asn
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.327T>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1096T>A
  hgvsp: ENSP00000375922.2:p.Tyr366Asn
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1096T>A
  hgvsp: ENSP00000343052.4:p.Tyr366Asn
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1096T>A
  hgvsp: ENSP00000342092.4:p.Tyr366Asn
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1096T>A
  hgvsp: ENSP00000338767.5:p.Tyr366Asn
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1093T>A
  hgvsp: ENSP00000386750.3:p.Tyr365Asn
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39255
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr366Asn
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-223084950-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084950
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084950
    reference: chr 2
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1082A>G
  hgvsp: ENSP00000342092.4:p.His361Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1082A>G
  hgvsp: ENSP00000375922.2:p.His361Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1082A>G
  hgvsp: ENSP00000338767.5:p.His361Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.313A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1079A>G
  hgvsp: ENSP00000386750.3:p.His360Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1082A>G
  hgvsp: ENSP00000375921.2:p.His361Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1082A>G
  hgvsp: ENSP00000343052.4:p.His361Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.506A>G
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His361Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-223084958-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084958
    reference: chr 2
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.498C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1074C>G
  hgvsp: ENSP00000375922.2:p.Ser358Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1074C>G
  hgvsp: ENSP00000342092.4:p.Ser358Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1074C>G
  hgvsp: ENSP00000343052.4:p.Ser358Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1071C>G
  hgvsp: ENSP00000386750.3:p.Ser357Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1074C>G
  hgvsp: ENSP00000338767.5:p.Ser358Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.305C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1074C>G
  hgvsp: ENSP00000375921.2:p.Ser358Arg
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser358Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

2-223084961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084961
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084961
    reference: chr 2
allele count: 14
allele frequency: 1.154753460136261e-4
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1071C>T
  hgvsp: ENST00000350526.4:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1071C>T
  hgvsp: ENST00000336840.6:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.302C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1071C>T
  hgvsp: ENST00000344493.4:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.495C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1071C>T
  hgvsp: ENST00000392069.2:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1071C>T
  hgvsp: ENST00000392070.2:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1068C>T
  hgvsp: ENST00000409551.3:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9410
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro357Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-223084976-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084976
    reference: chr 2
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1056T>G
  hgvsp: ENST00000344493.4:c.1056T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1056T>G
  hgvsp: ENST00000336840.6:c.1056T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.287T>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1056T>G
  hgvsp: ENST00000392070.2:c.1056T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1056T>G
  hgvsp: ENST00000392069.2:c.1056T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1053T>G
  hgvsp: ENST00000409551.3:c.1053T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1056T>G
  hgvsp: ENST00000350526.4:c.1056T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.480T>G
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser352Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-223084981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084981
    reference: chr 2
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.475A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1051A>G
  hgvsp: ENSP00000375922.2:p.Ser351Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1051A>G
  hgvsp: ENSP00000342092.4:p.Ser351Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1051A>G
  hgvsp: ENSP00000338767.5:p.Ser351Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1051A>G
  hgvsp: ENSP00000343052.4:p.Ser351Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1048A>G
  hgvsp: ENSP00000386750.3:p.Ser350Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.282A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1051A>G
  hgvsp: ENSP00000375921.2:p.Ser351Gly
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser351Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-223084985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084985
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084985
    reference: chr 2
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1047C>T
  hgvsp: ENST00000392070.2:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1047C>T
  hgvsp: ENST00000392069.2:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1047C>T
  hgvsp: ENST00000350526.4:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1047C>T
  hgvsp: ENST00000336840.6:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1047C>T
  hgvsp: ENST00000344493.4:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1044C>T
  hgvsp: ENST00000409551.3:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.278C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.471C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5444
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp349Asp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

2-223084985-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084985
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084985
    reference: chr 2
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1047C>G
  hgvsp: ENSP00000375922.2:p.Asp349Glu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.471C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.278C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1047C>G
  hgvsp: ENSP00000338767.5:p.Asp349Glu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1047C>G
  hgvsp: ENSP00000343052.4:p.Asp349Glu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1047C>G
  hgvsp: ENSP00000342092.4:p.Asp349Glu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1047C>G
  hgvsp: ENSP00000375921.2:p.Asp349Glu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1044C>G
  hgvsp: ENSP00000386750.3:p.Asp348Glu
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp349Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-223084991-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084991
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.465C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1041C>G
  hgvsp: ENSP00000342092.4:p.Asn347Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1041C>G
  hgvsp: ENSP00000375921.2:p.Asn347Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1041C>G
  hgvsp: ENSP00000343052.4:p.Asn347Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1041C>G
  hgvsp: ENSP00000338767.5:p.Asn347Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1038C>G
  hgvsp: ENSP00000386750.3:p.Asn346Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1041C>G
  hgvsp: ENSP00000375922.2:p.Asn347Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.272C>G
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn347Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-223084994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084994
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084994
    reference: chr 2
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1038C>T
  hgvsp: ENST00000392070.2:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1038C>T
  hgvsp: ENST00000350526.4:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1038C>T
  hgvsp: ENST00000336840.6:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1035C>T
  hgvsp: ENST00000409551.3:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.269C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1038C>T
  hgvsp: ENST00000344493.4:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1038C>T
  hgvsp: ENST00000392069.2:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.462C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser346Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-223084996-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223084996
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223084996
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1036T>C
  hgvsp: ENSP00000375922.2:p.Ser346Pro
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1036T>C
  hgvsp: ENSP00000343052.4:p.Ser346Pro
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1036T>C
  hgvsp: ENSP00000338767.5:p.Ser346Pro
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1033T>C
  hgvsp: ENSP00000386750.3:p.Ser345Pro
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.460T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1036T>C
  hgvsp: ENSP00000375921.2:p.Ser346Pro
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.267T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1036T>C
  hgvsp: ENSP00000342092.4:p.Ser346Pro
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser346Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-223085003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085003
    reference: chr 2
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1029G>A
  hgvsp: ENST00000336840.6:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.453G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1029G>A
  hgvsp: ENST00000392070.2:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1029G>A
  hgvsp: ENST00000392069.2:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1029G>A
  hgvsp: ENST00000350526.4:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1026G>A
  hgvsp: ENST00000409551.3:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.260G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1029G>A
  hgvsp: ENST00000344493.4:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr343Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-223085004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085004
    reference: chr 2
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1025C>T
  hgvsp: ENSP00000386750.3:p.Thr342Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.259C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1028C>T
  hgvsp: ENSP00000343052.4:p.Thr343Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.452C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1028C>T
  hgvsp: ENSP00000375922.2:p.Thr343Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1028C>T
  hgvsp: ENSP00000338767.5:p.Thr343Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1028C>T
  hgvsp: ENSP00000342092.4:p.Thr343Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1028C>T
  hgvsp: ENSP00000375921.2:p.Thr343Met
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr343Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-223085008-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085008
    reference: chr 2
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1024A>C
  hgvsp: ENSP00000338767.5:p.Ser342Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1024A>C
  hgvsp: ENSP00000375922.2:p.Ser342Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.255A>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1024A>C
  hgvsp: ENSP00000342092.4:p.Ser342Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.448A>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1021A>C
  hgvsp: ENSP00000386750.3:p.Ser341Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1024A>C
  hgvsp: ENSP00000343052.4:p.Ser342Arg
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1024A>C
  hgvsp: ENSP00000375921.2:p.Ser342Arg
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser342Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

2-223085026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085026
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085026
    reference: chr 2
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.430C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1006C>T
  hgvsp: ENSP00000342092.4:p.Pro336Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1006C>T
  hgvsp: ENSP00000343052.4:p.Pro336Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1006C>T
  hgvsp: ENSP00000375922.2:p.Pro336Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.237C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1006C>T
  hgvsp: ENSP00000338767.5:p.Pro336Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1006C>T
  hgvsp: ENSP00000375921.2:p.Pro336Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1003C>T
  hgvsp: ENSP00000386750.3:p.Pro335Ser
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro336Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-223085028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085028
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085028
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1004C>T
  hgvsp: ENSP00000375922.2:p.Pro335Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1004C>T
  hgvsp: ENSP00000343052.4:p.Pro335Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.235C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1001C>T
  hgvsp: ENSP00000386750.3:p.Pro334Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1004C>T
  hgvsp: ENSP00000342092.4:p.Pro335Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.428C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1004C>T
  hgvsp: ENSP00000375921.2:p.Pro335Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1004C>T
  hgvsp: ENSP00000338767.5:p.Pro335Leu
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro335Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

2-223085029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085029
    reference: chr 2
allele count: 185
allele frequency: 1.524540989550714e-3
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.1003C>T
  hgvsp: ENSP00000342092.4:p.Pro335Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.1003C>T
  hgvsp: ENSP00000375921.2:p.Pro335Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.1000C>T
  hgvsp: ENSP00000386750.3:p.Pro334Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.1003C>T
  hgvsp: ENSP00000338767.5:p.Pro335Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.234C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.1003C>T
  hgvsp: ENSP00000375922.2:p.Pro335Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.1003C>T
  hgvsp: ENSP00000343052.4:p.Pro335Ser
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.427C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro335Ser
num of homozygotes: 3
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

2-223085034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085034
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085034
    reference: chr 2
allele count: 8
allele frequency: 6.593153010598494e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.422C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.229C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.995C>T
  hgvsp: ENSP00000386750.3:p.Pro332Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.998C>T
  hgvsp: ENSP00000342092.4:p.Pro333Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.998C>T
  hgvsp: ENSP00000338767.5:p.Pro333Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.998C>T
  hgvsp: ENSP00000375922.2:p.Pro333Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.998C>T
  hgvsp: ENSP00000343052.4:p.Pro333Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.998C>T
  hgvsp: ENSP00000375921.2:p.Pro333Leu
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro333Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-223085049-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085049
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085049
    reference: chr 2
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.983T>G
  hgvsp: ENSP00000375921.2:p.Val328Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.983T>G
  hgvsp: ENSP00000342092.4:p.Val328Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.983T>G
  hgvsp: ENSP00000375922.2:p.Val328Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.214T>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.407T>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.980T>G
  hgvsp: ENSP00000386750.3:p.Val327Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.983T>G
  hgvsp: ENSP00000343052.4:p.Val328Gly
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.983T>G
  hgvsp: ENSP00000338767.5:p.Val328Gly
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val328Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

2-223085050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085050
    reference: chr 2
allele count: 29
allele frequency: 2.390648442781066e-4
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.982G>A
  hgvsp: ENSP00000338767.5:p.Val328Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.982G>A
  hgvsp: ENSP00000375922.2:p.Val328Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.406G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.213G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.982G>A
  hgvsp: ENSP00000375921.2:p.Val328Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.982G>A
  hgvsp: ENSP00000342092.4:p.Val328Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.982G>A
  hgvsp: ENSP00000343052.4:p.Val328Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.979G>A
  hgvsp: ENSP00000386750.3:p.Val327Ile
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28611
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val328Ile
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-223085051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085051
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085051
    reference: chr 2
allele count: 4
allele frequency: 3.297881111385935e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.981C>T
  hgvsp: ENST00000350526.4:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.212C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.981C>T
  hgvsp: ENST00000392069.2:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.981C>T
  hgvsp: ENST00000336840.6:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.981C>T
  hgvsp: ENST00000344493.4:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.981C>T
  hgvsp: ENST00000392070.2:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.405C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.978C>T
  hgvsp: ENST00000409551.3:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr327Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

2-223085052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085052
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085052
    reference: chr 2
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.977C>T
  hgvsp: ENSP00000386750.3:p.Thr326Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.404C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.980C>T
  hgvsp: ENSP00000375922.2:p.Thr327Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.980C>T
  hgvsp: ENSP00000338767.5:p.Thr327Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.211C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.980C>T
  hgvsp: ENSP00000342092.4:p.Thr327Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.980C>T
  hgvsp: ENSP00000375921.2:p.Thr327Ile
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.980C>T
  hgvsp: ENSP00000343052.4:p.Thr327Ile
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr327Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-223085071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085071
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085071
    reference: chr 2
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.961G>A
  hgvsp: ENSP00000375921.2:p.Val321Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.192G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.961G>A
  hgvsp: ENSP00000338767.5:p.Val321Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.961G>A
  hgvsp: ENSP00000343052.4:p.Val321Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.961G>A
  hgvsp: ENSP00000342092.4:p.Val321Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.961G>A
  hgvsp: ENSP00000375922.2:p.Val321Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.385G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.958G>A
  hgvsp: ENSP00000386750.3:p.Val320Met
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val321Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

2-223085082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085082
    reference: chr 2
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-9T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-9T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-9T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-9T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-9T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-9T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-9T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-9T>C
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

2-223085087-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085087
    reference: chr 2
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-14C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-14C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-14C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-14C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-14C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-14C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-14C>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-14C>G
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-223085095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085095
    reference: chr 2
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-22T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-22T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-22T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-22T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-22T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-22T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-22T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-22T>C
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9404
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

2-223085096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085096
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085096
    reference: chr 2
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-23G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-23G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-23G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-23G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-23G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-23G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-23G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-23G>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-223085097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085097
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085097
    reference: chr 2
allele count: 3
allele frequency: 2.489213408562894e-5
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-24G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-24G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-24G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-24G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-24G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-24G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-24G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-24G>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-223085098-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085098
    reference: chr 2
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-25T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-25T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-25T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-25T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-25T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-25T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-25T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-25T>C
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-223085099-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085099
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085099
    reference: chr 2
allele count: 3
allele frequency: 2.490494612229989e-5
allele num: 120458
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-26A>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-26A>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-26A>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-26A>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-26A>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-26A>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-26A>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-26A>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9407
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

2-223085101-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085101
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085101
    reference: chr 2
allele count: 22
allele frequency: 1.827272878287015e-4
allele num: 120398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-28T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-28T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-28T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-28T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-28T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-28T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-28T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-28T>C
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14283
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25645
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-223085115-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085115
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085115
    reference: chr 2
allele count: 1
allele frequency: 8.354916868577158e-6
allele num: 119690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-42C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-42C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-42C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-42C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-42C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-42C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-42C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-42C>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-223085119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085119
    reference: chr 2
allele count: 1
allele frequency: 8.389824820457749e-6
allele num: 119192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.959-46C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.190-46C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.959-46C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.959-46C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.383-46C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.959-46C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.959-46C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.956-46C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10387
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

2-223085890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085890
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+51C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+51C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+51C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+51C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+51C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+51C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+51C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+51C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-223085897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085897
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085897
    reference: chr 2
allele count: 9
allele frequency: 7.41399762752076e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+44G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+44G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+44G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+44G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+44G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+44G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+44G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+44G>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-223085898-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085898
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085898
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+43C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+43C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+43C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+43C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+43C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+43C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+43C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+43C>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-223085901-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085901
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085901
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+40A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+40A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+40A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+40A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+40A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+40A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+40A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+40A>G
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

2-223085912-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085912
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085912
    reference: chr 2
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+29A>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+29A>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+29A>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+29A>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+29A>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+29A>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+29A>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+29A>C
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41521
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-223085917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085917
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+24T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+24T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+24T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+24T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+24T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+24T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+24T>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+24T>C
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41521
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

2-223085929-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085929
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085929
    reference: chr 2
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+12G>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+12G>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+12G>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+12G>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+12G>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+12G>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+12G>C
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+12G>C
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-223085929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085929
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085929
    reference: chr 2
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+12G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+12G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+12G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+12G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+12G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+12G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+12G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+12G>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-223085932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085932
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+9G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+9G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+9G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+9G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+9G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+9G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+9G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+9G>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-223085935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085935
    reference: chr 2
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.958+6G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.955+6G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.958+6G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.958+6G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.958+6G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.958+6G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.382+6G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.189+6G>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41516
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: c.958+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-223085952-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085952
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085952
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.944C>A
  hgvsp: ENSP00000386750.3:p.Ser315Tyr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.947C>A
  hgvsp: ENSP00000375922.2:p.Ser316Tyr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.178C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.947C>A
  hgvsp: ENSP00000342092.4:p.Ser316Tyr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.371C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.947C>A
  hgvsp: ENSP00000343052.4:p.Ser316Tyr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.947C>A
  hgvsp: ENSP00000375921.2:p.Ser316Tyr
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.947C>A
  hgvsp: ENSP00000338767.5:p.Ser316Tyr
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser316Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-223085954-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085954
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.176A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.945A>G
  hgvsp: ENST00000392069.2:c.945A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.369A>G
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.942A>G
  hgvsp: ENST00000409551.3:c.942A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.945A>G
  hgvsp: ENST00000336840.6:c.945A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.945A>G
  hgvsp: ENST00000344493.4:c.945A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.945A>G
  hgvsp: ENST00000350526.4:c.945A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.945A>G
  hgvsp: ENST00000392070.2:c.945A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr315Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-223085955-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085955
    reference: chr 2
allele count: 3235
allele frequency: 2.664700746280951e-2
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.944C>A
  hgvsp: ENSP00000342092.4:p.Thr315Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.944C>A
  hgvsp: ENSP00000343052.4:p.Thr315Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.944C>A
  hgvsp: ENSP00000375922.2:p.Thr315Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.944C>A
  hgvsp: ENSP00000338767.5:p.Thr315Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.175C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.368C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.944C>A
  hgvsp: ENSP00000375921.2:p.Thr315Lys
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.941C>A
  hgvsp: ENSP00000386750.3:p.Thr314Lys
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 9.75e1
  variant carriers: 3005
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr315Lys
num of homozygotes: 59
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-223085975-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085975
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085975
    reference: chr 2
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.348G>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.924G>T
  hgvsp: ENST00000350526.4:c.924G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.921G>T
  hgvsp: ENST00000409551.3:c.921G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.924G>T
  hgvsp: ENST00000344493.4:c.924G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.155G>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.924G>T
  hgvsp: ENST00000392070.2:c.924G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.924G>T
  hgvsp: ENST00000336840.6:c.924G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.924G>T
  hgvsp: ENST00000392069.2:c.924G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40486
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser308Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-223085975-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085975
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085975
    reference: chr 2
allele count: 11
allele frequency: 9.061254077564335e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.924G>A
  hgvsp: ENST00000392070.2:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.921G>A
  hgvsp: ENST00000409551.3:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.155G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.924G>A
  hgvsp: ENST00000336840.6:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.924G>A
  hgvsp: ENST00000344493.4:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.924G>A
  hgvsp: ENST00000350526.4:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.348G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.924G>A
  hgvsp: ENST00000392069.2:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser308Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

2-223085976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085976
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.923C>T
  hgvsp: ENSP00000375921.2:p.Ser308Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.154C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.923C>T
  hgvsp: ENSP00000375922.2:p.Ser308Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.923C>T
  hgvsp: ENSP00000338767.5:p.Ser308Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.923C>T
  hgvsp: ENSP00000342092.4:p.Ser308Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.923C>T
  hgvsp: ENSP00000343052.4:p.Ser308Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.920C>T
  hgvsp: ENSP00000386750.3:p.Ser307Leu
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.347C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser308Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-223085980-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085980
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.150C>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.919C>A
  hgvsp: ENSP00000338767.5:p.Leu307Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.919C>A
  hgvsp: ENSP00000375922.2:p.Leu307Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.919C>A
  hgvsp: ENSP00000343052.4:p.Leu307Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.919C>A
  hgvsp: ENSP00000342092.4:p.Leu307Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.916C>A
  hgvsp: ENSP00000386750.3:p.Leu306Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.919C>A
  hgvsp: ENSP00000375921.2:p.Leu307Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.343C>A
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu307Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-223085984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085984
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085984
    reference: chr 2
allele count: 17
allele frequency: 1.400398701748027e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.915C>T
  hgvsp: ENST00000350526.4:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.915C>T
  hgvsp: ENST00000336840.6:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.915C>T
  hgvsp: ENST00000344493.4:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.915C>T
  hgvsp: ENST00000392069.2:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.912C>T
  hgvsp: ENST00000409551.3:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.915C>T
  hgvsp: ENST00000392070.2:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.146C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.339C>T
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40484
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr305Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-223085987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085987
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085987
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.912G>A
  hgvsp: ENST00000392070.2:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.143G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.912G>A
  hgvsp: ENST00000336840.6:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.336G>A
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.912G>A
  hgvsp: ENST00000392069.2:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.912G>A
  hgvsp: ENST00000350526.4:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.912G>A
  hgvsp: ENST00000344493.4:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.909G>A
  hgvsp: ENST00000409551.3:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40479
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr304Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-223085988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 223085988
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 223085988
    reference: chr 2
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000338767
  ensembl transcript: ENST00000336840
  gene symbol: PAX3
  hgvsc: ENST00000336840.6:c.911C>T
  hgvsp: ENSP00000338767.5:p.Thr304Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000555548
  gene symbol: PAX3
  hgvsc: ENST00000555548.1:n.142C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375921
  ensembl transcript: ENST00000392069
  gene symbol: PAX3
  hgvsc: ENST00000392069.2:c.911C>T
  hgvsp: ENSP00000375921.2:p.Thr304Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000342092
  ensembl transcript: ENST00000344493
  gene symbol: PAX3
  hgvsc: ENST00000344493.4:c.911C>T
  hgvsp: ENSP00000342092.4:p.Thr304Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000375922
  ensembl transcript: ENST00000392070
  gene symbol: PAX3
  hgvsc: ENST00000392070.2:c.911C>T
  hgvsp: ENSP00000375922.2:p.Thr304Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135903
  ensembl transcript: ENST00000464706
  gene symbol: PAX3
  hgvsc: ENST00000464706.1:n.335C>T
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000343052
  ensembl transcript: ENST00000350526
  gene symbol: PAX3
  hgvsc: ENST00000350526.4:c.911C>T
  hgvsp: ENSP00000343052.4:p.Thr304Met
  variant of: http://identifiers.org/hgnc/8617
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135903
  ensembl protein: ENSP00000386750
  ensembl transcript: ENST00000409551
  gene symbol: PAX3
  hgvsc: ENST00000409551.3:c.908C>T
  hgvsp: ENSP00000386750.3:p.Thr303Met
  variant of: http://identifiers.org/hgnc/8617
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr304Met
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 9383
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1763
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32861
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554194771688788e-5
allele num: 64342
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.996041741633681e-5
allele num: 11116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.74422e6

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 849
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5062
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9389
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65502
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.775171065493646e-5
allele num: 10230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 1.793619e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: -2.343e-1

FS
type: SiteQuality
SIO_000300: 2.147e0

QD
type: SiteQuality
SIO_000300: 8.4e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9402
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 384
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.664598529100209e-4
allele num: 66082
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.770391159445712e-5
allele num: 11402
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.454e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 1.819054e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
all individuals: 402
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9392
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1661
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36084
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5185
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66132
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.184834123222749e-4
allele num: 8440
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.496e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.26e0

QD
type: SiteQuality
SIO_000300: 1.066e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

DP
type: SiteQuality
SIO_000300: 1.824779e6

GenotypeQuality
all individuals: 9393
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022609116189094e-5
allele num: 66168
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.075e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 1.826317e6

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
all individuals: 5282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 2.742e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.022e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 1.827921e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.439e0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509023963300537e-5
allele num: 66268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.102e0

MQRankSum
type: SiteQuality
SIO_000300: -5.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 9.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.877e1

DP
type: SiteQuality
SIO_000300: 1.832433e6

GenotypeQuality
all individuals: 1671
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1862
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.323e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 4.64e0

DP
type: SiteQuality
SIO_000300: 1.833466e6

MQRankSum
type: SiteQuality
SIO_000300: -1.971e0

GenotypeQuality
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 230
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.277061542203843e-3
allele num: 16444
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.552795031055901e-4
allele num: 6440
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.635e0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 1.836914e6

GenotypeQuality
all individuals: 158
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variant carriers: 0

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

GenotypeQuality
all individuals: 1166
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 4.514e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 1.848674e6

QD
type: SiteQuality
SIO_000300: 1.467e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 4.757e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.014e1

DP
type: SiteQuality
SIO_000300: 1.851956e6

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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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
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: 11480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.851956e6

FS
type: SiteQuality
SIO_000300: 4.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

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: 1

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.759850809119894e-4
allele num: 66492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
type: Population
allele count: 7
allele frequency: 4.248604030104394e-4
allele num: 16476
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MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.854609e6

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

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

Other
type: Population
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allele num: 904
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South Asian
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allele count: 8
allele frequency: 4.85319097306479e-4
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 2.015e0

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.952e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 1.855361e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
all individuals: 9399
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1647
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GenotypeQuality
all individuals: 1861
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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South Asian
type: Population
allele count: 4
allele frequency: 2.425712553062462e-4
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.165e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

DP
type: SiteQuality
SIO_000300: 1.855604e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

DP
type: SiteQuality
SIO_000300: 1.85762e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

ReadPosRankSum
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SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.848e0

VQSLOD
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.225e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.860643e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

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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bin: 6.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.519756838905775e-4
allele num: 6580
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: 16500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.614e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.69e0

DP
type: SiteQuality
SIO_000300: 1.861484e6

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

Other
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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: 16500
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.269e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

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

QD
type: SiteQuality
SIO_000300: 1.405e1

VQSLOD
type: SiteQuality
SIO_000300: -1.186e-1

DP
type: SiteQuality
SIO_000300: 1.862253e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

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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bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.519295047098146e-4
allele num: 6582
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

QD
type: SiteQuality
SIO_000300: 1.85e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.882e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2682e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

Other
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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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
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South Asian
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African
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allele frequency: 1.345377666730732e-3
allele num: 10406
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.81e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

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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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Other
type: Population
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QD
type: SiteQuality
SIO_000300: 1.368e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.76e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.48e0

DP
type: SiteQuality
SIO_000300: 1.866381e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.08e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9405
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

FS
type: SiteQuality
SIO_000300: 6.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.627e1

DP
type: SiteQuality
SIO_000300: 1.866337e6

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

FS
type: SiteQuality
SIO_000300: 6.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.627e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

DP
type: SiteQuality
SIO_000300: 1.866337e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.655e0

FS
type: SiteQuality
SIO_000300: 4.911e0

DP
type: SiteQuality
SIO_000300: 1.86647e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 7
bin: 2.5e0
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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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: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e0

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.866583e6

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

GenotypeQuality
all individuals: 9402
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 39695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.86628e6

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.817e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

QD
type: SiteQuality
SIO_000300: 1.156e1

VQSLOD
type: SiteQuality
SIO_000300: -1.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.24e-1

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

GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 9403
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.6e-3

MQ
type: SiteQuality
SIO_000300: 5.895e1

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 1.866537e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 5.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.866594e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 9.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.09e1

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

DP
type: SiteQuality
SIO_000300: 1.866994e6

FS
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 2
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 2.686e0

DP
type: SiteQuality
SIO_000300: 1.866622e6

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.396e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.529e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

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

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9404
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.806e0

QD
type: SiteQuality
SIO_000300: 1.199e1

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.866592e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 39675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9494
bin: 9.75e1
variant carriers: 182

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 182
allele frequency: 1.102362204724409e-2
allele num: 16510
num of homozygotes: 3

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.654e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.59e-2

DP
type: SiteQuality
SIO_000300: 1.886999e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

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

GenotypeQuality
all individuals: 552
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1135
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 9414
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 1838
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variant carriers: 0

GenotypeQuality
all individuals: 39725
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994844433786943e-5
allele num: 66724
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.869187e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.233e1

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

GenotypeQuality
all individuals: 1832
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 5448
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 39718
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variant carriers: 0

GenotypeQuality
all individuals: 552
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 842
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variant carriers: 0

GenotypeQuality
all individuals: 9408
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 4.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.05e-1

DP
type: SiteQuality
SIO_000300: 1.868236e6

QD
type: SiteQuality
SIO_000300: 1.387e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 5448
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 9425
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variant carriers: 29

GenotypeQuality
all individuals: 1830
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 39704
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GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 840
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GenotypeQuality
all individuals: 1136
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49707690001499e-5
allele num: 66710
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.491620111731844e-4
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.018066500096098e-3
allele num: 10406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.870845e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5450
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 550
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
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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: 39703
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9408
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997001499250375e-5
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.346e0

FS
type: SiteQuality
SIO_000300: 2.041e0

DP
type: SiteQuality
SIO_000300: 1.86868e6

QD
type: SiteQuality
SIO_000300: 1.437e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
all individuals: 39712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

DP
type: SiteQuality
SIO_000300: 1.868554e6

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.236e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
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GenotypeQuality
all individuals: 39577
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variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 5426
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variant carriers: 0

GenotypeQuality
all individuals: 1821
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variant carriers: 0

GenotypeQuality
all individuals: 1134
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GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9405
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
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: 11558
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 9.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.866303e6

FS
type: SiteQuality
SIO_000300: 2.272e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39236
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9405
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.862354e6

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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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
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allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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SIO_000300: -5.83e-1

QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.22e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.840737e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

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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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 3.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.232e0

QD
type: SiteQuality
SIO_000300: 1.488e1

DP
type: SiteQuality
SIO_000300: 1.838132e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.896312029349295e-4
allele num: 10358
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

FS
type: SiteQuality
SIO_000300: 1.277e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

QD
type: SiteQuality
SIO_000300: 1.238e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.387e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.835642e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.184553423359394e-4
allele num: 8442
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: 11502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

DP
type: SiteQuality
SIO_000300: 1.830183e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.282e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.610511660285416e-4
allele num: 11492
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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BaseQRankSum
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.88e1

ClippingRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 22

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: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 2.614689802709769e-3
allele num: 8414
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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 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: 66240
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
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Other
type: Population
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
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BaseQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.220703125e-4
allele num: 8192
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65642
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.52e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.122e-1

DP
type: SiteQuality
SIO_000300: 1.710399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 3.424e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
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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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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.796814e6

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.931e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 9

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348759141589737e-4
allele num: 66728
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.797358e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.581e0

FS
type: SiteQuality
SIO_000300: 4.052e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

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
all individuals: 5496
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.795939e6

MQ
type: SiteQuality
SIO_000300: 5.994e1

FS
type: SiteQuality
SIO_000300: 1.3743e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

QD
type: SiteQuality
SIO_000300: 1.169e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

VQSLOD
type: SiteQuality
SIO_000300: -2.979e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.094e0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 3.795923e6

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.346e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.545e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 1.848e0

DP
type: SiteQuality
SIO_000300: 3.796381e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.487e1

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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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.796057e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

FS
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 3.79647e6

QD
type: SiteQuality
SIO_000300: 1.392e1

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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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.269e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
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MQRankSum
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SIO_000300: -5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.188e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 3.795487e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

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

GenotypeQuality
all individuals: 1164
bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 3.379e0

QD
type: SiteQuality
SIO_000300: 1.271e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 3.795598e6

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.45e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

GenotypeQuality
all individuals: 5625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e0

QD
type: SiteQuality
SIO_000300: 8.84e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 3.795305e6

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

GenotypeQuality
all individuals: 1
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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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variant carriers: 1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 3.795133e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.24e-1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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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
all individuals: 3
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GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
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GenotypeQuality
all individuals: 41647
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variant carriers: 3176

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

Latino
type: Population
allele count: 165
allele frequency: 1.425116600449128e-2
allele num: 11578
num of homozygotes: 2

South Asian
type: Population
allele count: 318
allele frequency: 1.925872093023256e-2
allele num: 16512
num of homozygotes: 5

Other
type: Population
allele count: 27
allele frequency: 2.973568281938326e-2
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 68
allele frequency: 6.5346915241207e-3
allele num: 10406
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 244
allele frequency: 3.689144239491986e-2
allele num: 6614
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 2413
allele frequency: 3.615956362764491e-2
allele num: 66732
num of homozygotes: 45

BaseQRankSum
type: SiteQuality
SIO_000300: -5.006e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 3.999917e6

VQSLOD
type: SiteQuality
SIO_000300: 5.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

GenotypeQuality
all individuals: 5933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3347
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1623
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variant carriers: 0

GenotypeQuality
all individuals: 4
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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
all individuals: 1224
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variant carriers: 0

GenotypeQuality
all individuals: 2959
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 3.26104e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.365e1

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

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1623
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 40486
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variant carriers: 11

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 2522
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2596
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GenotypeQuality
all individuals: 1224
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5933
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 7
allele frequency: 8.096229470275272e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 3.26104e6

QD
type: SiteQuality
SIO_000300: 1.365e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2522
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5930
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 2959
bin: 8.25e1
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GenotypeQuality
all individuals: 40484
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 3.258298e6

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 3.246e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

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

GenotypeQuality
all individuals: 5929
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1224
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2960
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GenotypeQuality
all individuals: 2598
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GenotypeQuality
all individuals: 2522
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GenotypeQuality
all individuals: 1624
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40484
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.113e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.165e0

FS
type: SiteQuality
SIO_000300: 9.297000000000001e0

QD
type: SiteQuality
SIO_000300: 1.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e0

DP
type: SiteQuality
SIO_000300: 3.258075e6

MQ
type: SiteQuality
SIO_000300: 5.992e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

GenotypeQuality
all individuals: 1224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2962
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variant carriers: 0

GenotypeQuality
all individuals: 3347
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
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GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.94803248718794e-4
allele num: 66734
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.258204e6

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

FS
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 2522
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 3348
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5935
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.074e0

MQRankSum
type: SiteQuality
SIO_000300: -1.685e0

DP
type: SiteQuality
SIO_000300: 3.2546e6

FS
type: SiteQuality
SIO_000300: 1.301e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.658e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.62e-1