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Table 5 Confirmation of known population variation

From: Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

Gene symbol

Chromosome

Reference position

Reference allele

Variant allele

Confirmed by sanger sequencing

Huvariome alleles

dbSNP ID

LMNA

1

154372809

T

C

Yes

T/C

dbsnp.83:rs505058

SMYD2

1

212558909

G

A

Yes

G/A

dbsnp.86:rs1134647

TTN

2

179163877

G

A

Yes

G/A

dbsnp.130:rs72646845

TTN

2

179170739

A

G

Yes

A/G

dbsnp.126:rs35833641

TTN

2

179329196

C

T

Yes

C/T

dbsnp.116:rs7585334

TTN

2

179337706

C

T

Yes

C/T

dbsnp.100:rs2291311

TTN

2

179352280

G

A

Yes

G/A

dbsnp.88:rs1552280

HDAC2

6

114372280

C

T

Yes

T/C

dbsnp.121:rs13204445

TMEM2

9

73549916

C

T

Yes

C/T

dbsnp.72:rs25689

TMEM2

9

73550029

C

G

Yes

G/C

dbsnp.107:rs3739783

MYPN

10

69603927

G

A

No

G/A

dbsnp.120:rs10997975

LDB3

10

88483707

A

T

Yes

A/T

dbsnp.127:rs45567939

TRAF6

11

36473064

T

C

Yes

T/C*

 

MYBPC3

11

47326019

G

A

Yes

G/A

dbsnp.120:rs11570058

MYBPC3

11

47326617

T

C

Yes

T/C

dbsnp.107:rs3729989

MYH6

14

22931651

A

G

Yes

A/G

dbsnp.80:rs365990

MYH7

14

22968900

G

A

No

G/A

dbsnp.86:rs735712

DICER1

14

94626500

A

T

Yes

A/T

dbsnp.52:rs13078

ACTC1

15

32868460

G

C

Yes

G/C

dbsnp.116:rs8037241

TPM1

15

61138893

C

A

Yes

C/A

dbsnp.86:rs1071646

TCAP1

17

35075837

A

C

Yes

A/C

dbsnp.86:rs1053651

DSC2

18

26903040

T

C

Yes

T/C**

 

DSG2

18

27365107

G

A

Yes

G/A

 

DSG2

18

27376616

G

A

Yes

G/A

 

TNNI3

19

60357396

A

C

Yes

A/C

dbsnp.116:rs7252610

PARVB

22

42726784

T

C

Yes

T/C

dbsnp.86:rs1007863

PARVB

22

42821201

T

C

Yes

T/C

dbsnp.92:rs1983609

PARVB

22

42821229

T

C

Yes

T/C

dbsnp.86:rs738479

DMD

X

31406271

C

T

Yes

C/T

dbsnp.89:rs1800280

DMD

X

32413115

T

C

Yes

T/C

dbsnp.79:rs228406

  1. Genomic nucleotide positions 1-based (Reference Position), nucleotides (Reference and Variant Alleles), and Confirmation by Sanger Sequencing are determined by Meder et al. 2011 [25]. The Variant Alleles in bold are the reference alleles in NCBI build 36. Huvariome Alleles are represented with the NCBI build 36 reference allele first in the pair (e.g. T/C with T from NCBI build 36). The T/C variant labeled with * is not found in the HVC, but in the CEU and GIH population; the T/C variant labeled with ** is not found in the HVC, but in the YRI and JPT population.