Assay ID |
dbSNP |
JSNP |
'Entrez Gene' Gene Name |
'Entrez Gene' Gene Symbol |
SNP Type |
Public Location
Chromosome |
Public Location
Position |
Caucasian Minor
Allele Frequency |
African American
Minor Allele Frequency |
Chinese Minor
Allele Frequency |
Japanese Minor
Allele Frequency |
Celera RefSNP ID |
context
sequence |
Chinese Minor
Allele |
Japanese Minor
Allele |
C____143237_10 |
|
|
|
|
|
17 |
1414 |
0.4 |
0.33 |
0.39 |
0.45 |
hCV143237 |
AGGGCTCCGTAGGAAGCAAGGATGTACAAGTGGCTCCTTT[T/C]CCCTTCCTAGGGGTCCCTTGCAGGGCTGGGACCCCACTCT |
A |
A |
C____267611_10 |
|
|
|
|
|
17 |
10013 |
0.19 |
0.09 |
0.31 |
0.47 |
hCV267611 |
TTTTGAGCCAGGCCTGCAGCCCGGCATCTGGAAGTGGCTT[A/C]CAGGCTCTCCCTGAGCTCTCTCCTGCAGGACACCCCTGCC |
T |
T |
C___9270421_10 |
rs748620 |
|
hypothetical
protein MGC20235|membrane component, chromosome 17, surface marker 2 (ovarian
carcinoma antigen CA125) |
MGC20235|M17S2 |
UTR
3 |
17 |
18752 |
0.28 |
0.23 |
0.4 |
0.48 |
hCV9270421 |
ACCTGCTACAGTATTTTGGGGAGCAAACTAAAGACCAGAA[C/G]TTAAATTTTCACTTTAGACATTGGATGAATAGTATGAAGA |
C |
C |
C___9270420_10 |
|
|
hypothetical
protein MGC20235|membrane component, chromosome 17, surface marker 2 (ovarian
carcinoma antigen CA125) |
MGC20235|M17S2 |
UTR
3 |
17 |
19201 |
0.26 |
0.2 |
0.46 |
0.35 |
hCV9270420 |
CCATGGTGCATTCAAGAGTATCCAACTTCAAGGGAATCTC[C/T]GCATTTCAATGAAAGGAGGAAGAGTGTGCTGATAAACCTA |
T |
T |
C____433209_10 |
|
|
double
C2-like domains, beta |
DOC2B |
Intron |
17 |
40220 |
0.18 |
0.26 |
0.18 |
0.07 |
hCV433209 |
AAGCTCATCTCTGGTGATACTTGCCCCAGTTTCCCCAGGC[C/T]GGAAGTTGACCCCAGGCCCAGCTCTTGAGGGTTTGATGGA |
C |
C |
C__11856883_1_ |
rs2294074 |
IMS-JST047439 |
double
C2-like domains, beta |
DOC2B |
Intron |
17 |
60211 |
0.27 |
0.44 |
0.14 |
0.07 |
hCV11856883 |
CACCACTCCCCAGGTTCCTGTCCAGGCTTTTGGATGTCTG[C/T]GCTGTGTGGGGTGCGGGGCCAGGAAGGAATTCTTCTTTAA |
C |
C |
C____175746_10 |
|
|
glucagon
receptor |
GCGR |
Intron |
17 |
61860 |
0.37 |
0.23 |
0.49 |
0.43 |
hCV175746 |
ATCTGGGGAGGCTGGTCCCCCACCCAAGAGCATTGGGTCA[A/C]CCTGCAGGAAGGTGGCTGCCACCAGCAATGAGACGAGGGG |
C |
A |
C____172239_10 |
|
|
double
C2-like domains, beta |
DOC2B |
Intron |
17 |
63640 |
0.23 |
0.39 |
0.19 |
0.1 |
hCV172239 |
TGACGGGTGTCAGTTTTCCCCCCAGGCAGTTGGAGAAGAT[C/T]GCTGCCCTCCTTGGACAGGGGTTTCTGTAGAGCCAGTGCA |
C |
C |
C____481428_10 |
|
|
rabphilin
3A-like (without C2 domains) |
RPH3AL |
Intron |
17 |
126828 |
0.13 |
0 |
0.03 |
0.05 |
hCV481428 |
GGGGGTGGGGAACGGCCTGGCCTGAGTACCTCTTGGTACC[C/T]GGTCACAGGGTCTGCCTCTGAGCGATGTCTCTCCCCCTCC |
G |
G |
C____503660_10 |
|
|
|
|
|
17 |
138875 |
|
|
0.19 |
0.14 |
hCV503660 |
CCACCTCCTCTCCTCGCTTCCTGGACTCATTCTAACATTG[T/C]CTAAGTCTAGGAACGGCAGTGCTAGCAGAAGCCCCGCAGG |
C |
C |
C____486741_10 |
|
|
rabphilin
3A-like (without C2 domains) |
RPH3AL |
Intron |
17 |
148643 |
0.33 |
0.37 |
0.27 |
0.38 |
hCV486741 |
GAACAACGTGTCCAAAAGGAGAGCTTAGTGTGGTCAAGGC[A/G]GTGAGAGCAGCTGTGCCTGGTGATGGGGGTGGGGGAGGTG |
C |
C |
C__11783673_10 |
|
|
rabphilin
3A-like (without C2 domains) |
RPH3AL |
Intron |
17 |
148908 |
|
|
0.12 |
0.15 |
hCV11783673 |
CTTGAGTTACTTAAGCCTTGCAATTTGGATGGGTGTTCAG[C/T]TGACTATTTGTTGGGTATCTGCTGTGTGCTGGCACCTGCC |
A |
A |
C_____89391_10 |
|
|
rabphilin
3A-like (without C2 domains) |
RPH3AL |
Intron |
17 |
167225 |
0.18 |
0.1 |
0.39 |
0.33 |
hCV89391 |
TTTTCTTATCTTTCCTAAGGCAGAGAATATGAGGCTGTGC[A/G]TTACGCTATTACTTTGCCCTTGAATTTTTAGAGGCTGATA |
T |
T |
C__11783488_10 |
|
|
rabphilin
3A-like (without C2 domains) |
RPH3AL |
Intron |
17 |
174167 |
|
|
0.43 |
0.39 |
hCV11783488 |
AGCAGGGGGATGGCTGAGGTGGAGAACTGACCCCAGGTGC[T/C]GCCAGCGTTGGTTGGTAGCGGGAAAACAGGCTGCCCGAGG |
A |
A |
C____127857_10 |
|
|
rabphilin
3A-like (without C2 domains) |
RPH3AL |
Intron |
17 |
186587 |
0.32 |
0.32 |
0.49 |
0.41 |
hCV127857 |
GGATCGCTAGTGTGCTGTTGCTGTTAGAATATTAAGAAAT[C/T]CTACAATGTTTGTCTAGTCTGCTGTATTTTTCAGATAAAA |
A |
G |
C__11783564_10 |
|
|
rabphilin
3A-like (without C2 domains) |
RPH3AL |
Intron |
17 |
219479 |
0.37 |
0.23 |
0.34 |
0.46 |
hCV11783564 |
AGTTTACCCACTGGTGAAGGGGGTGCCGGGCATGGGGGTC[G/T]GCTGGTGAGGCCCTCCTTGCTGCCGAGTCAGGGAGCCTCT |
A |
A |
C_____29861_10 |
|
|
rabphilin
3A-like (without C2 domains) |
RPH3AL |
Intron |
17 |
220241 |
0.36 |
0.2 |
0.31 |
0.41 |
hCV29861 |
GAAGGAGGAGGATGTAGGGACCCTCTAGGGCACCCAAGGT[C/G]CAGCAGGGAAGGAGAAATGGAAATTTCATGTCGATAGAAC |
C |
C |
C____125755_10 |
|
|
rabphilin
3A-like (without C2 domains) |
RPH3AL |
|
17 |
223442 |
0.29 |
0.13 |
0.14 |
0.1 |
hCV125755 |
TTTGGCCTTTCCACCACAAGTGGAAAATCAAACTGAATAG[C/T]TCTGGACATTGAGGTCAGGGTTGGGATTTTATCAGCCAGA |
G |
G |
C____107136_10 |
|
|
|
|
|
17 |
244759 |
0.33 |
0.43 |
0.33 |
0.42 |
hCV107136 |
GAGTTAGATGCCCCTGCAGACGTGGATGAGCGGCTGAAGA[C/G]TAAGGGAGCAGGTCACACGTGGTGACAGACAGGAGAGGCT |
C |
C |
C____107135_10 |
rs4985583 |
|
|
|
|
17 |
244877 |
0.33 |
0.4 |
0.33 |
0.42 |
hCV107135 |
GGTTCTTTCTGGCTGCGCTAGTCCAGAAGACCAGCAAACC[C/T]GAGATGGTCTGAGGTGGACGATGGAGCCTGAATGGAGAGC |
A |
A |
C___2811794_10 |
|
|
|
|
|
17 |
384628 |
0.27 |
0.44 |
0.47 |
0.48 |
hCV2811794 |
TTGTGTCATCATTTGGACCTGGCCAGACCCCACGACTCCA[A/G]CCAAACGGGTGGTCTCCCAACTGAGAGATCAGAAAAAAAG |
T |
C |
C___2811795_10 |
|
|
|
|
|
17 |
385057 |
0.24 |
0.18 |
0.32 |
0.25 |
hCV2811795 |
CTTTGAGCCTGCCTTTGGAGTGTGGCCACACAGACCAGAC[G/A]TTTGATCCCCAGGGATAATGACAGCACGCCCTTCTAGCAA |
T |
T |
C___2811823_1_ |
rs2304947 |
IMS-JST062079 |
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
420971 |
0.11 |
0.05 |
0.18 |
0.16 |
hCV2811823 |
TTCTTCATTAAAAAAGGTTTTTTCATGGAGATACGTGGAA[G/C]CTTAAAGTTTTTGCATTTCTTTCCTCAAGAGAGAATAAGC |
C |
C |
C___2811838_1_ |
rs3744732 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
437440 |
0.1 |
0.11 |
0.16 |
0.12 |
hCV2811838 |
GTCCCACCCTCCACTTCTGCCCCGTGCCCACACCAGCAAA[C/T]ACGAACAGAGACCGTGCCTCCAGAGTCCTTTGTTTATATC |
G |
G |
C___3030990_10 |
|
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
475606 |
0.36 |
0.34 |
0.38 |
0.35 |
hCV3030990 |
TTATTTTTTAGATGTTTGGAAAGGAATTAAGTGGCAAATA[T/C]TGTTTTAAAATACTTGCCTGTCATATGACTTCTTTATCAG |
G |
G |
C___1508691_10 |
rs2360735 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
488509 |
0.19 |
0.11 |
0.26 |
0.16 |
hCV1508691 |
GGAGATGTATTTATAGGATTAGATGCAGTTGATTTAAAGC[C/T]GTCATAGTATTGACTGGCATGGAAGAAAACAAACAGTTTC |
A |
A |
C___1508674_10 |
|
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
495457 |
0.45 |
0.33 |
0.23 |
0.31 |
hCV1508674 |
CGCTCCCCACAAGGACTTGTTCTTTCATCTTAGCAAGTCA[A/G]TCTGAGCAGTAATGTAGCCCTCTAACTAGCGGGAATGCAT |
T |
T |
C___1508659_10 |
|
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
509000 |
0.17 |
0.17 |
0.26 |
0.2 |
hCV1508659 |
TTTTTTGGAAATTTTCTTATACAAATGCATTTACATACTT[C/T]GTGTGTACTTTAACAAAGTTATTTTTCAATTGTTTTAAAA |
G |
G |
C___1508657_10 |
|
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
509141 |
0.49 |
0.19 |
0.11 |
0.22 |
hCV1508657 |
AGTAAAAAGCATGTTTATGTGTGTAAATGTATAAGAAAGA[A/G]GTCTGGAAATGGTAACAGTGGATGTCTCTTGGGAAGGAAG |
T |
T |
C___1508648_10 |
rs2002015 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
519275 |
0.32 |
0.49 |
0.37 |
0.47 |
hCV1508648 |
TGGGCTTAATTTGATGTAGGTCTCAAACCGTCTATCTTGT[A/C]TGCCCTGTCAATTCCTTTTTTCTCATGGCTGTATTTAAAA |
G |
G |
C___7470856_10 |
rs331010 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
531874 |
0.49 |
0.24 |
0.12 |
0.23 |
hCV7470856 |
TCAACCTGGAAATGGACAGGCCTGCACAGCTCTATGGCCT[T/C]GACAAGTTCCTCCTGGGCCTCCTGGGTTGACACGTATGAG |
A |
A |
C___3196911_10 |
|
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
539662 |
|
|
0.11 |
0.22 |
hCV3196911 |
AGCAGCAGCTACGTTTCTGACTCTGCCTTCTTAATAAGGC[C/T]CGAATGCTACAGGCTTCTTTGTTTTCCTTAAGTTTCCTTA |
A |
A |
C___3196905_10 |
rs448465 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
544638 |
0.49 |
0.18 |
0.11 |
0.22 |
hCV3196905 |
CATGGACCAAGAAACACAGTGGATGATTTCACCTGGGTGT[T/A]AGTAAAGTTGGGGAATTTTTCCAACTTCTCTATTGAATAT |
T |
T |
C__11446188_10 |
rs1833459 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
546994 |
0.34 |
0.45 |
0.38 |
0.47 |
hCV11446188 |
TTTTTTTAATTCATTGGAAACAGAGATTGTTTGGAGGTTA[C/T]AGGAGAGAAGGCTTGATGGGGAAGTCCCCATGAAAGAGGC |
A |
A |
C___3196895_10 |
rs1227028 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
558048 |
|
|
0.11 |
0.26 |
hCV3196895 |
AAAAGGGCCACAACAGTCACTGCTTTATAACACCTTTAGA[C/T]GTAAGCTGTAGCTCCAGTGCTCCGTTCAGAAACTCTAGTG |
A |
A |
C___3196890_10 |
rs368722 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
558795 |
|
|
0.03 |
0.12 |
hCV3196890 |
CCAGTAACCGTGAATAATAGCACCTTATTTTTTCACAGAA[T/C]AGTCTAAAGCCATACCAGCTCTTCGGAAAATGAACAACCT |
A |
A |
C___1010180_10 |
rs366151 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
583061 |
0.49 |
0.19 |
0.11 |
0.24 |
hCV1010180 |
TCTCATCCCTTTGATGTTTGTAAGCTCCTGGAAGGTAAGA[A/C]CTGTATCTTTGTCATCTTTCTATTTCACTACACATAGGCC |
G |
G |
C___2032710_10 |
rs870183 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
Intron |
17 |
584561 |
|
|
0.23 |
0.34 |
hCV2032710 |
TCTGTTCTTCTGTTGAGGCATCGTATTTCAGAATGGCTGT[C/T]GTAGTAGAAATGCTGAGCTTGCCTTTCTAGCCGTCCTCTC |
G |
G |
C___2698411_10 |
rs1237094 |
|
hypothetical
protein FLJ10979 |
FLJ10979 |
|
17 |
604592 |
0.36 |
0.41 |
0.33 |
0.48 |
hCV2698411 |
GAAAATGTACAAAGGATGTACATTCATCACGTGCAGAAAA[G/A]TAATATTTCCTTGCTGTGAGCTTTATTGGCACAGAATACA |
C |
C |
C___2988813_10 |
|
|
membrane
protein expressed in epithelial-like lung adenocarcinoma |
CT120 |
|
17 |
619437 |
0.17 |
0.11 |
0.42 |
0.35 |
hCV2988813 |
TCTAAACTTGAATGAATTGGAATACATTTCATTTGTGCCA[A/G]GCACCAATCACATGGATGAAGACAGGAATTTCAGTATCAT |
T |
C |
C___2988806_10 |
rs2740351 |
|
gem
(nuclear organelle) associated protein 4|membrane protein expressed in
epithelial-like lung adenocarcinoma |
GEMIN4|CT120 |
Intron |
17 |
628176 |
0.44 |
0.27 |
0.3 |
0.43 |
hCV2988806 |
GAACTTAGTCATGCCAAGACACTCAGCCTGTTTGGTTCAA[T/C]AAAATGTGCCAGGCCCTGTGCTAGATGTTAGGGTCTCAAA |
G |
G |
C___7470251_1_ |
|
|
gem
(nuclear organelle) associated protein 4|membrane protein expressed in
epithelial-like lung adenocarcinoma |
GEMIN4|CT120 |
Nonsense
Mutation |
17 |
632907 |
0.24 |
0.16 |
0.1 |
0.18 |
hCV7470251 |
CACACGAGCAGTGCTTCTTAAAGTCCATTGCTGAGGGCAT[C/T]GGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGA |
A |
A |
C___2988801_1_ |
|
|
gem
(nuclear organelle) associated protein 4|membrane protein expressed in
epithelial-like lung adenocarcinoma |
GEMIN4|CT120 |
Silent
Mutation |
17 |
633248 |
0.22 |
0.09 |
0.08 |
0.15 |
hCV2988801 |
CCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGT[A/G]ATTGGCTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACT |
C |
C |
C___7470252_10 |
rs910925 |
|
gem
(nuclear organelle) associated protein 4|membrane protein expressed in
epithelial-like lung adenocarcinoma |
GEMIN4|CT120 |
Mis-sense
Mutation |
17 |
634297 |
0.47 |
0.28 |
0.31 |
0.46 |
hCV7470252 |
AGCCTGGCTGTGGTCAATCTCGGCACCCACAAGTTCCTGG[G/C]CCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAA |
G |
G |
C___7470257_1_ |
rs910924 |
IMS-JST069009 |
CGI-150
protein|gem (nuclear organelle) associated protein 4|membrane protein
expressed in epithelial-like lung adenocarcinoma |
CGI-150|GEMIN4|CT120 |
|
17 |
640670 |
0.23 |
0.14 |
0.12 |
0.16 |
hCV7470257 |
CACACGGCGCATTTTCTGGGGAGGACCAGCCGTCAAAAAG[C/T]GTCTAGGATCCGGAACGCTGCTGTCTGGAGGGGGCGGCGC |
A |
A |
C___2988726_10 |
rs941658 |
|
CGI-150
protein|gem (nuclear organelle) associated protein 4 |
CGI-150|GEMIN4 |
Intron |
17 |
648916 |
|
|
0.08 |
0.15 |
hCV2988726 |
TTTGTATTATTCATTTATTTTTATTTGTATCTGTATGTAT[A/G]TATATGAGACGGGGTCCCACTCTGTTACACAGGCTGAACT |
C |
C |
C___2988778_10 |
|
|
CGI-150
protein|putative RNA methyltransferase |
CGI-150|FLJ10581 |
Intron |
17 |
661081 |
0.46 |
0.17 |
0.1 |
0.13 |
hCV2988778 |
ATTTTCCCCTCTACACTAACACAGTTAACACTGCCAACTT[T/G]TAACATTATTTGCACATTAGTTAACAAAGGATTTTATGTG |
C |
C |
C__12125250_10 |
rs4968063 |
|
nucleoredoxin |
NXN |
Intron |
17 |
731582 |
|
|
0.19 |
0.25 |
hCV12125250 |
GATCGACGCTGGCTCCTCACTCCCCCTCCTATGCAAACTC[T/C]CAGCCGCTTCTTAAGATCTCTCCTGAGCACATATGGCCCT |
A |
A |
C___2698492_10 |
|
|
nucleoredoxin |
NXN |
Intron |
17 |
737614 |
|
|
0.18 |
0.26 |
hCV2698492 |
GATGAGGCAGCTGGCCGCCAGAGGACAAGGACGTGGAGGG[A/G]GGGAAGAGGGAGTCCAGCGGCCCCTGAGGCTGAGAGGGCC |
C |
C |
C____756135_1_ |
rs561811 |
IMS-JST027962 |
nucleoredoxin |
NXN |
Intron |
17 |
766157 |
0.07 |
0.49 |
0.12 |
0.37 |
hCV756135 |
AGGTTGTGTACTAATGTCAGCTGTACACGTTGTCTTTTCA[A/G]CATGTTACCTCCTCTCAGAAGCCTGCCCCCACGCTGTGCA |
T |
T |
C___1566884_10 |
|
|
nucleoredoxin |
NXN |
Intron |
17 |
827766 |
0.47 |
0.45 |
0.31 |
0.31 |
hCV1566884 |
TAGGAAAAGACAAGGCTGCCTTGTGATGTCGGAACATCCA[C/T]GCTTCTAGCTAGGGGGTCTGCAGGAGACTGATCCCCCACA |
C |
C |
C__12125222_10 |
rs2586274 |
|
nucleoredoxin |
NXN |
Intron |
17 |
863901 |
|
|
0.03 |
0.1 |
hCV12125222 |
TTAGACTTGTTTTAATAAGTAGGTTGGTAGATGATTTTCA[C/G]ATTTCTAGAGAGAAGGAATGTGATCGATAGTCAGGAGGTG |
C |
C |
C__11954942_10 |
|
|
active
BCR-related gene|translocase of inner mitochondrial membrane 22 homolog
(yeast) |
ABR|TIMM22 |
UTR
3 |
17 |
889733 |
0.02 |
0.08 |
0.18 |
0.2 |
hCV11954942 |
|
#N/A |
#N/A |
C___1566931_10 |
rs1054083 |
|
active
BCR-related gene|translocase of inner mitochondrial membrane 22 homolog
(yeast) |
ABR|TIMM22 |
UTR
3 |
17 |
893279 |
|
|
0.32 |
0.3 |
hCV1566931 |
GGGAATCTCCACTTCTGGGGTTTACCTGTTCGGCCTCCTG[C/T]CTATCAGTGAGGCATCTCTGACTGTTTCTTCTACTGCTTT |
A |
A |
C____756202_1_ |
rs333652 |
IMS-JST041287 |
active
BCR-related gene|translocase of inner mitochondrial membrane 22 homolog
(yeast) |
ABR|TIMM22 |
Intron |
17 |
900118 |
0.1 |
0.13 |
0.27 |
0.19 |
hCV756202 |
GCCTCGGGTGGGCTGGCTGGGGTGGGGTGCGGTGGCCTCT[C/T]TCTCTGCCCTGCCCCTGCCCCCGCCCCAGCTCTCCATCCC |
A |
A |
C___1566957_10 |
|
|
active
BCR-related gene |
ABR |
Intron |
17 |
909315 |
0.05 |
0.08 |
0.06 |
0.09 |
hCV1566957 |
GGCTCCTCGGGGGGTCAGCTCCTGGGCGGTGGGAGTGACC[C/G]AGTGGGCTCCTGAGGGAAGCGGCTTTCAGGAAGGAGGCGG |
G |
G |
C___7470677_10 |
rs2663335 |
|
active
BCR-related gene |
ABR |
Intron |
17 |
914491 |
|
|
0.23 |
0.21 |
hCV7470677 |
GAGGCCCCAGGATCCCCACAGAGACTTCCCCAGTCCCGCT[A/T]CAAGACAGCGGAACCAGCTCCTGAGCCGAAATCTGGAGGG |
T |
T |
C___7980679_10 |
rs894628 |
|
active
BCR-related gene |
ABR |
Intron |
17 |
925820 |
0.32 |
0.3 |
0.5 |
0.36 |
hCV7980679 |
CCACAGGTCCCTGGCTCCCAGGGCTTTGCTTCTGGCCACC[A/G]TGAGCTCGGAGCTTGGGTGGAAGGGAGGTGTTCGGGAATC |
C |
C |
C___7470699_10 |
rs734894 |
|
active
BCR-related gene |
ABR |
Intron |
17 |
933704 |
|
|
0.31 |
0.31 |
hCV7470699 |
TCCAGTGAGAAGAATGCTAGATGTCAGCCACAATAGCCGT[A/G]CACACATAAGCGAGCCCAGGACGAGCCCAGCACGGTGCTA |
T |
T |
C___7980707_1_ |
rs2257540 |
IMS-JST074700 |
active
BCR-related gene |
ABR |
Intron |
17 |
938206 |
0.46 |
0.38 |
0.38 |
0.39 |
hCV7980707 |
TGAGGCACGCACCTGCCGGAAAGCCAGGCCTCCCAGCTTC[A/G]GAGGTTCAGGGCCCTTTGTCCCATCTTTCCCCAGGAGTTT |
C |
T |
C___1130615_1_ |
rs2304958 |
IMS-JST062093 |
active
BCR-related gene |
ABR |
Intron |
17 |
944265 |
0.24 |
0.16 |
0.16 |
0.14 |
hCV1130615 |
AGAGAAGGACCCCCTAGCCCTACCCCGGGCAGCTCACATA[T/C]AAGGCCGCCGTGGCCTTCGGAAACTTTTTCATCTGGCCAC |
A |
A |
C__12122517_1_ |
rs2304961 |
IMS-JST062096 |
active
BCR-related gene |
ABR |
Intron |
17 |
946650 |
0.23 |
0.26 |
0.16 |
0.14 |
hCV12122517 |
CCAGAGCAGCCCACTCTGTGGCTCCTGGCCCTGACCTGTA[C/T]GAACCGGAAACTCAGGCCCCCTCTTCCTGAGGAGGCTGCC |
G |
G |
C___1617041_10 |
|
|
active
BCR-related gene |
ABR |
Intron |
17 |
955847 |
0.15 |
0.1 |
0.1 |
0.11 |
hCV1617041 |
AACTAGATCATGTTTGAGATAGTTCTGAGGCAGAGATGGC[G/A]ATAATAAGCACACATGCTTCTGCCTGTCGTCCTTTGCGAT |
C |
C |
C___1130637_10 |
rs3786065 |
|
active
BCR-related gene |
ABR |
Intron |
17 |
962515 |
0.42 |
0.36 |
0.42 |
0.47 |
hCV1130637 |
TGGCCTTCAGCTCCAGGAGCCTGAGAATGATAAGGTCTGG[A/G]GAGCTGCCCTTCCTGGAAACACAGCATGTCTCCTTCCCCC |
C |
C |
C__12122438_10 |
rs2257468 |
|
active
BCR-related gene |
ABR |
Intron |
17 |
971492 |
0.48 |
0.47 |
0.49 |
0.48 |
hCV12122438 |
ACCAGTTCCAGAAGATCTCAGAGGTAGGCCGCTCCCCACA[T/C]AGCCACCCTGAGGGACAAGGAGCTTTGGGGGCTGCTCAGA |
G |
G |
C__12122386_1_ |
rs2257474 |
IMS-JST074704 |
active
BCR-related gene |
ABR |
Intron |
17 |
988330 |
0.23 |
0.22 |
0.2 |
0.02 |
hCV12122386 |
GTCACCCACGACCCTGGCATAGGGCATCGTGAACCCATCA[C/T]GGTGCTCTGCCTGCCTGGGCGGGGGCCGAGCGCCTTCTCC |
A |
A |
C___7470719_10 |
rs920749 |
|
active
BCR-related gene |
ABR |
Intron |
17 |
992290 |
0.34 |
0.18 |
0.18 |
0.02 |
hCV7470719 |
GAGGACCAGGCCTGAGCTGGCCACGCCTTATCTCTAGACA[T/C]TGTTCCTACCAGAGTGACCTGACGTCTTTGGTTTGGCGGC |
A |
A |
C___7470720_10 |
rs1373101 |
|
active
BCR-related gene |
ABR |
Intron |
17 |
1011848 |
0.43 |
0.43 |
0.41 |
0.35 |
hCV7470720 |
TGTTCAGGGACCTGAACGGGGGCCAACCAGGGGAGAGCAA[C/G]GAGGAGAAGACTCTCGCTCCCATCTCTGCCTTCAGCTCTC |
C |
C |
C__11825494_10 |
|
|
|
|
|
17 |
1021717 |
|
|
0.09 |
0.14 |
hCV11825494 |
ATCTTGCCTGGGACTGGTCTGTTGCCACTTCCTAGAAAAC[C/G]AGGGTAGAGTAAGCAAGGAAGAAGGGAAGACGGGTGTCGG |
G |
G |
C__15967479_10 |
rs2292236 |
|
located
at seventeen-p-thirteen point three 1 |
LOST1 |
UTR
3 |
17 |
1409882 |
0.32 |
0.48 |
0.43 |
0.36 |
hCV15967479 |
|
#N/A |
#N/A |
C___1204772_10 |
|
|
tyrosine
3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
polypeptide |
YWHAE |
|
17 |
1453483 |
0.38 |
0.48 |
0.45 |
0.32 |
hCV1204772 |
AGTTGCTTTTCCGAGAGATAGGGAGACCATTGAATATAAT[C/T]ATATGCTGCTGTTTGGAGCAACCTCCAAGAAGCTTTCAAG |
G |
A |
C___1204828_10 |
rs1873827 |
|
tyrosine
3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
polypeptide |
YWHAE |
Intron |
17 |
1507531 |
0.32 |
0.43 |
0.42 |
0.45 |
hCV1204828 |
GGTCACCAAACAGAACTTAGCAGGTGTCGGGGGTGGAAGA[A/G]GGTAAGACAGTGTATTGGCAGGATTTCTTTGTTGGGTACT |
C |
T |
C___1223194_10 |
|
|
v-crk
sarcoma virus CT10 oncogene homolog (avian) |
CRK |
Intron |
17 |
1563170 |
0.36 |
0.4 |
0.42 |
0.48 |
hCV1223194 |
TCATATCTTAGCATAACGATTTTATGTCTCAACACTTACC[T/G]TGATAATCGAGCACCACCTTTTCAAAACAGATAAGAACTC |
A |
C |
C___1223175_1_ |
rs2302457 |
IMS-JST058819 |
myosin
IC |
MYO1C |
Intron |
17 |
1577311 |
0.4 |
0.26 |
0.34 |
0.43 |
hCV1223175 |
GGCCCCCGGGGACAGGGCGGGGGTGGCGAGGGGGCTGTGT[A/G]GGCACCCAGGGACAGGGTGGGGGTCCACCTTAGGGTTGGG |
T |
T |
C___1223172_20 |
rs2286870 |
|
myosin
IC |
MYO1C |
Intron |
17 |
1578587 |
|
|
0.42 |
0.42 |
hCV1223172 |
CCAAGGCCAGTTTCAAAACCCCGCAGTGCCTTCATGACCC[T/C]GCTGGGGAGTGCTTGGTGGCGGCAGAGGGTCAGGAAGTGG |
A |
G |
C___1223145_10 |
rs14391 |
|
myosin
IC|skeletal muscle and kidney enriched inositol phosphatase |
MYO1C|SKIP |
UTR
3 |
17 |
1604891 |
0.14 |
0.22 |
0.11 |
0.11 |
hCV1223145 |
GCTGTGGCCACAGACTTTTCCAGGGTGGTCCTTGGCAGGT[G/T]AGGTGCGTCTGTGCCACCCTTGTCAGGAGCCATTGACGAC |
A |
A |
C___1223114_10 |
|
|
phosphotidylinositol
transfer protein |
PITPN |
Intron |
17 |
1649942 |
0.45 |
0.49 |
0.38 |
0.31 |
hCV1223114 |
AACATCCGGAAGGCGTTTTGACCTGCAGAAGTGACGTTTA[C/G]CCTCAATAGTCAGAGCATTCGTTCTCAGTCATGTCACTTA |
G |
G |
C___7459989_10 |
rs1051820 |
|
hypothetical
protein MGC34680 |
MGC34680 |
UTR
3 |
17 |
1684652 |
|
|
0.35 |
0.41 |
hCV7459989 |
GGAGGTCCAGGCCGGGGTGGGGACGTGGGTGGGTCCGAGG[G/T]GTGTGTGGGGTCGGGGTGGGCTCTAGGAGTTAGCCCTTAT |
A |
A |
C___2980070_10 |
|
|
hypothetical
protein MGC34680 |
MGC34680 |
Intron |
17 |
1686332 |
0.48 |
0.44 |
0.33 |
0.11 |
hCV2980070 |
TTGGTTAGGATTGGTTAAGAGTCCCTTTGTGAATGGTGGC[C/T]AGGCAGGAAAAGGAACATGTCCTCTCTGGACCTGATTTGG |
G |
G |
C___1223104_10 |
|
|
hypothetical
protein MGC34680 |
MGC34680 |
Intron |
17 |
1696259 |
0.18 |
0.1 |
0.44 |
0.33 |
hCV1223104 |
GTTCTGGGCTATTTCTAGAGGCAGAAACTAACGGCCCGTC[A/G]CTTAGCCTCCGTCACAGGAGTTCCCAAGTTATAGCGACTT |
C |
C |
C__12119532_10 |
|
|
hypothetical
protein MGC34680 |
MGC34680 |
Intron |
17 |
1699104 |
|
|
0.33 |
0.34 |
hCV12119532 |
CCCTCGAAAGGCTCATCTCCCTGCTGCTGAGTCAGCGTCT[T/G]TTACTCAAGCTGTCTGAGAAATCTTTTGCTGCCCAGGAGG |
C |
C |
C__12119527_10 |
|
|
hypothetical
protein MGC34680 |
MGC34680 |
Intron |
17 |
1704163 |
0.31 |
0.19 |
0.03 |
0.06 |
hCV12119527 |
CTTGAAGTCCTGTTCAGGTGGGCCCCCTCTTGCCCTGTAC[C/G]CAGAATGAGCTGATGTGAGATGCCGAGAGTGGCTTCGTTG |
C |
C |
C___7459945_1_ |
rs1045794 |
IMS-JST038148 |
hypothetical
protein FLJ33817|serine (or cysteine) proteinase inhibitor, clade F (alpha-2
antiplasmin, pigment epithelium derived factor), member 2 |
FLJ33817|SERPINF2 |
Silent
Mutation |
17 |
1847300 |
0.17 |
0.13 |
0.1 |
0.13 |
hCV7459945 |
TGTAGTGATGGGTGGGCTTCTGCTCCAGCTCCTTCCAGAC[G/A]GTCAAGGAATGGTCAGAGGAGGAGCTGACCAGGACGCTGC |
T |
T |
C___1387533_1_ |
rs2277695 |
|
serine
(or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment
epithelium derived factor), member 2 |
SERPINF2 |
Intron |
17 |
1858371 |
|
|
0.23 |
0.06 |
hCV1387533 |
ATGGGGACCAGCTTGGGCTCTGCACCCCCAGCCCGTTGCC[C/T]GTCCCACCCAGAATCCATTCAAGGATGAGACAGCGGTGGA |
A |
A |
C___1387530_10 |
rs3976 |
|
serine
(or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment
epithelium derived factor), member 2 |
SERPINF2 |
Intron |
17 |
1859682 |
|
|
0.16 |
0.26 |
hCV1387530 |
GCCGTGGGGTGGTCCCTGTGCTGCCCCAAAGTCCATGGGC[T/C]CTTGTAATAAACCCTTATCAACAACGGTCACCTGAGTCTC |
A |
A |
C___1387523_1_ |
|
|
serine
(or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment
epithelium derived factor), member 1|serine (or cysteine) proteinase
inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor),
member 2 |
SERPINF1|SERPINF2 |
Mis-sense
Mutation |
17 |
1864244 |
0.19 |
0.19 |
0.1 |
0.2 |
hCV1387523 |
CTGTTCCTTGAGCTCCCGCGGTGCACTGGGGTTGGGGTTC[C/T]TCACGCTGCCCACGAAGAGGGGAAGGCCTGTGGTGTCCTC |
A |
A |
C___1841778_10 |
|
|
serine
(or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment
epithelium derived factor), member 1 |
SERPINF1 |
Intron |
17 |
1879695 |
0.41 |
0.14 |
0.22 |
0.23 |
hCV1841778 |
TGGCAGGAGACAGGAAGTCTTGGGTTTGAGTTCAGGGACT[C/T]GCAGAGATGCACAGGGACTGTCTCCTCACGGCTTTGTGTA |
A |
A |
C____899271_10 |
rs3891224 |
|
serine
(or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment
epithelium derived factor), member 1 |
SERPINF1 |
Intron |
17 |
1884929 |
0.07 |
0.28 |
0.07 |
0.13 |
hCV899271 |
TGGAGTCAAACTTTGTTACCCACTGCCCTGGAAAGAAGTG[A/T]ATGACATAGTCTGAGCCCCAGGAGACCAGAAAGACAGTGG |
T |
T |
C___1841794_1_ |
rs2071022 |
IMS-JST006310 |
serine
(or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment
epithelium derived factor), member 1 |
SERPINF1 |
Intron |
17 |
1886396 |
0.29 |
0.16 |
0.19 |
0.18 |
hCV1841794 |
GTCAAGGGCAGCTGGGCAATCTGAGACAAGTGAGAAAGCA[C/T]GTGGTTAGTCCTTCAGAGCCCAAAAGCCGGGGACAGACAC |
A |
A |
C___1841795_1_ |
rs6828 |
IMS-JST006311 |
serine
(or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment
epithelium derived factor), member 1 |
SERPINF1 |
Silent
Mutation |
17 |
1886593 |
0.3 |
0.18 |
0.18 |
0.18 |
hCV1841795 |
ACATACTCATCTCCTGCAGGGACTTGGTGACTTCGCCTTC[G/A]TAACTCAGCTTCAGCTTGGGGACAGTGAGGACCGCCTGCA |
T |
T |
C__12125626_10 |
rs3815612 |
|
serine
(or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment
epithelium derived factor), member 1 |
SERPINF1 |
|
17 |
1894387 |
0.29 |
0.18 |
0.18 |
0.19 |
hCV12125626 |
GGAGCAGTCCTGTAATGTAAGCACAGGCGGTGTTGATAAC[C/T]GACCCTGGCATTGGAATAAAGAGAAAACTGACTTCCACAG |
A |
A |
C___1387456_10 |
|
|
|
|
|
17 |
1921490 |
0.23 |
0.24 |
0.33 |
0.49 |
hCV1387456 |
CCAGCCCAGCAATGTAACAATGCGTGTTTCTTCAGGAGAT[A/G]GACCCATATTGCTAAATTGTATAGCCAGTGTTATCTTTGT |
T |
T |
C___1387367_1_ |
rs2287321 |
IMS-JST038147 |
replication
protein A1, 70kDa |
RPA1 |
Intron |
17 |
1962942 |
0.34 |
0.38 |
0.48 |
0.4 |
hCV1387367 |
CAAAAGCAGACAAACAGAAACAGGTTAGAAAAACAAATTC[C/T]GTTCAAATGATAAGCTACTCAAAATGCTTTCCCCGATGAT |
A |
A |
C__16181941_10 |
rs2287320 |
|
replication
protein A1, 70kDa |
RPA1 |
Intron |
17 |
1963228 |
0.14 |
0.26 |
0.27 |
0.19 |
hCV16181941 |
|
#N/A |
#N/A |
C___1387350_10 |
|
|
replication
protein A1, 70kDa |
RPA1 |
Intron |
17 |
1975168 |
0.46 |
0.19 |
0.23 |
0.23 |
hCV1387350 |
TAGGCAAAAACTTTGGTATGAAGGTTAATCTTTGAAGGTC[C/T]GGGCACAATGGAAACTGTTCTCACTGGGAAATGACAAATG |
A |
A |
C___1387346_10 |
|
|
replication
protein A1, 70kDa |
RPA1 |
Intron |
17 |
1976791 |
0.49 |
0.19 |
0.22 |
0.22 |
hCV1387346 |
GCACGTGCACACAGACGTATACACATCTCTCATTAGAAAC[G/T]ACATCTTCAGTGAAACCAGGGAACAGAGAAAACCCGCACA |
A |
A |
C__15957490_10 |
rs2270411 |
|
replication
protein A1, 70kDa |
RPA1 |
Intron |
17 |
1985157 |
0.13 |
0.2 |
0.21 |
0.18 |
hCV15957490 |
|
#N/A |
#N/A |
C__12113189_10 |
rs3826538 |
|
replication
protein A1, 70kDa |
RPA1 |
Intron |
17 |
2000799 |
|
|
0.28 |
0.18 |
hCV12113189 |
CTTCCTTTAACCCACGCTATCCTTCTAAGAAGCAAAGAGC[A/G]TCTCATCACACAGGGCAAGAACTACAATGACGCACACGTG |
T |
T |
C___1387419_10 |
rs3786133 |
|
replication
protein A1, 70kDa |
RPA1 |
Intron |
17 |
2001134 |
0.49 |
0.14 |
0.2 |
0.19 |
hCV1387419 |
GAGCCTGCCCGTGAGCCTCTGTCAGTCACCAAATTGACCT[A/G]GCAAAGGAAATGAGCAATCAAATGTCTCCCACTGGGCTGT |
T |
T |
C____168118_10 |
|
|
reticulon
4 receptor-like 1|Nogo-66 receptor homolog 2 |
RTN4RL1|NGRH2 |
|
17 |
2044116 |
0.19 |
0.35 |
0.18 |
0.19 |
hCV168118 |
CTGGGGCCCAAGGAGTTTTCCAGGAGGCTAGGGACCCACC[A/C]GGACAGCTGTGGGTGGGCTTGGAGACTGCACACGTCTCTC |
T |
T |
C____316740_10 |
|
|
reticulon
4 receptor-like 1|Nogo-66 receptor homolog 2 |
RTN4RL1|NGRH2 |
|
17 |
2078722 |
0.27 |
0.19 |
0.02 |
0.12 |
hCV316740 |
TAGATACCTACATGTAAACTGACAATTATGAGGCCAGGTC[G/A]AATGAACAGTGTTCTGGGTAAGCCCCAAAGGGGGACAATC |
T |
T |
C____489858_10 |
|
|
reticulon
4 receptor-like 1|Nogo-66 receptor homolog 2 |
RTN4RL1|NGRH2 |
|
17 |
2089580 |
0.5 |
0.48 |
0.47 |
0.35 |
hCV489858 |
TCCCCTTTTCTGTCCTGGTCTGTCTCTGGCCCTGCTGAAT[T/A]GCAGGTGCGCAGTGATTGCTTCAGGAAGGCAGAGATCTTA |
A |
A |
C___1748258_10 |
|
|
candidate
tumor suppressor in ovarian cancer 2|DPH2-like 1 (S. cerevisiae)|reticulon 4
receptor-like 1|Nogo-66 receptor homolog 2 |
OVCA2|DPH2L1|RTN4RL1|NGRH2 |
|
17 |
2131396 |
0.32 |
0.19 |
0.09 |
0.09 |
hCV1748258 |
GGTATAGGATGTGTTTAAATAGTTCTTGCTGTTTTCTTGC[T/C]TATAATATGCAGAGCCCTATGTGGGGTCCTGGACCTGAGG |
A |
A |
C___3187493_10 |
|
|
candidate
tumor suppressor in ovarian cancer 2|DPH2-like 1 (S. cerevisiae) |
OVCA2|DPH2L1 |
Intron |
17 |
2146093 |
|
|
0.47 |
0.44 |
hCV3187493 |
TCTACCTGCAGAGCGGGAAGGCAGAGGCCACCCCAGAAAC[C/T]AGGAGGGACCTTGTGTCTCCAAGCAGGACAAGAAGGCACT |
A |
A |
C___2021199_10 |
|
|
chromosome
17 open reading frame 31|hypermethylated in cancer 1 |
C17orf31|HIC1 |
Intron |
17 |
2171807 |
0.13 |
0.03 |
0.29 |
0.34 |
hCV2021199 |
CCATGTGGTAAAAAGGAGTAGAGGTCAAGGGGCTGCTTCT[A/G]TTCCCTCAGTTTAGGGTCCTGGGAGGCTGACGGGTTTGGG |
T |
T |
C___2021203_10 |
|
|
chromosome
17 open reading frame 31|hypermethylated in cancer 1 |
C17orf31|HIC1 |
Intron |
17 |
2172133 |
|
|
0.03 |
0.06 |
hCV2021203 |
CTACTCTTCCTTTTTACTCTTCTGTCCTCTTAGAGACTTT[C/T]GCCTGTATACATGGATTACTGTTACTTAGCAGGGGCGACC |
G |
G |
C___2021211_10 |
rs2131704 |
|
chromosome
17 open reading frame 31|hypermethylated in cancer 1 |
C17orf31|HIC1 |
Intron |
17 |
2177489 |
|
|
0.23 |
0.26 |
hCV2021211 |
CTCTTAAATCCAGGCCCTTAGACCTAAGGGAAGGCTTTCT[A/G]CTCTTCAACAGTAGAACAGTTTCTGTCACCAAGGCAGGGC |
T |
T |
C__12118499_10 |
|
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2182248 |
|
|
0.23 |
0.28 |
hCV12118499 |
TTCCACATTTTATGCCAACTTGGGTCCTTATTGCTACCAA[T/C]CTGATTCAGAGTGTCCGTGTGTTGCTTGGGTTCCAAGGGC |
A |
A |
C___2021299_10 |
|
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2191641 |
0.36 |
0.27 |
0.03 |
0.07 |
hCV2021299 |
GGGGAGCGTGGTTCCCACTATGGGGGTTGCTGTCTAGGGC[A/G]TGAGAGGATGTGGGCAGAGAGCAGAGCTGAGCAGGACACT |
T |
T |
C___2021289_10 |
|
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2204035 |
0.4 |
0.43 |
0.24 |
0.25 |
hCV2021289 |
GAGCCACCGCCCGTACCCCACTGTGAAGGGACCTCATGGA[G/C]AAGGCAATTGTGACTGTATTTCTGATACATTTATTAGTGG |
C |
C |
C___2021284_10 |
|
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2215495 |
0.47 |
0.17 |
0.02 |
0.06 |
hCV2021284 |
GTTCCTCTAAAGGCAAATTCGTCAGAACTGTTTCTTCTGT[C/T]CTGAGGGCCTTTAGGCTACTGCTGAGTCTGGGCAAGTGTT |
A |
A |
C___2021240_10 |
rs903159 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2261700 |
|
|
0.26 |
0.19 |
hCV2021240 |
GCAGCAGACAGGCCCCCGAGGCAATGGAATTCAGTTCTCA[G/A]AACATACTCACCATGGGTCTCTTTCATGTTGTGTGGAATT |
T |
T |
C__12122231_10 |
|
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2277649 |
0.26 |
0.38 |
0.25 |
0.18 |
hCV12122231 |
TCCAGTGCTCATCAGTGGCAGCAACGTGAGCAGCTTTATT[A/G]CTGGTCGAGATTAGTCTCATGTTTGGTCCTGCCTTGATGC |
T |
T |
C__12122214_10 |
rs1994883 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2290472 |
0.27 |
0.38 |
0.25 |
0.21 |
hCV12122214 |
TCTCTCCTCTTTGCCCATGCTCCTCTTCCTTCCAGTCAAA[A/T]CCACAACAGCAGGCACATGTGGAACACCTAGGATGATGAT |
A |
A |
C___8729863_10 |
rs898748 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2292066 |
0.26 |
0.39 |
0.26 |
0.18 |
hCV8729863 |
TTAATCTGTAATGAGGACTAGGCAGTTTGCAGTTTTGGAA[A/C]GAAAATGCCAAGAAAGGACTCAGTTCTCCAAGTATCTAAG |
T |
T |
C___1625693_10 |
rs1563966 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2302545 |
|
|
0.26 |
0.2 |
hCV1625693 |
TCTGACTGGTAACTGACTCATGAGAAAAGCAGCCTTATGT[C/T]GGAAAGATAAGGGCCAACAAATTGCCTCCAGGTGGTGGTA |
A |
A |
C___1625689_10 |
|
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2309044 |
0.43 |
0.38 |
0.26 |
0.17 |
hCV1625689 |
ATTGGTTTGAGATGTGTACCTTATTTTTGAGAAGCAAGAA[G/C]ATTTTTTAACTGCTCGCTCAGTTTCTGCAATTCATTCGTC |
C |
C |
C___3187516_10 |
rs1231209 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2331563 |
|
|
0.27 |
0.17 |
hCV3187516 |
GATTGAATGGCAAGGGCAGGGGCATCTGTTAACTAGGTTA[C/T]TGCTCATAATCTTACTGTCTTTCCTTGTTTTTTGTTAAGG |
A |
A |
C____780994_10 |
rs143499 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2338915 |
0.42 |
0.39 |
0.26 |
0.17 |
hCV780994 |
TTTTAAGGAGCATTGTTTCATATTTTCACCATCATGTCTA[G/A]TATCCCTCTTCTTTTAGAAAAGAGGCCTCTCACATGCTTT |
T |
T |
C____780986_10 |
|
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2353882 |
0.4 |
0.49 |
0.21 |
0.16 |
hCV780986 |
TCCTTTATTCCTTGGATGGATCCGAGTTCTTCCTCTCTGC[G/A]TAAAACTAGTGATCCTAAGCCCAACGTAATGCCTACACGC |
T |
T |
C___1625663_10 |
rs1555568 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2356096 |
|
|
0.31 |
0.36 |
hCV1625663 |
AGGGAAGATGACAAGGAGGTTTAGTTTTTAGATTGTTTCT[A/G]CTTGCTTTGGATTTGAATTGAAATTTTTTTCCCTCCCTTG |
C |
C |
C___1625662_10 |
|
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2359848 |
0.26 |
0.5 |
0.26 |
0.31 |
hCV1625662 |
TGTCAGTGGTAGAAATTCCATTTTACAGTCCAGGAACAAT[C/G]CAAAACATTTTACTTATAATCCCACAGTTAATGACAGGAC |
C |
C |
C___1625650_10 |
rs170040 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2372305 |
|
|
0.21 |
0.11 |
hCV1625650 |
GTCTTGGGCCATGGTACAGATGTCCACATTGGTGCTGTCT[G/A]ATCACTCAGTTGGAACTGAAGATTCATCACAATGTAGATA |
C |
C |
C___1625644_10 |
rs216179 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2375469 |
|
|
0.22 |
0.18 |
hCV1625644 |
CCACTGCTGTAAAAGCTGGGAGAGGTGAATGCAGTTAATG[T/A]TAAGGTTCTTCTGTTAGGAAATTGATTGTTAATGAGAATG |
T |
T |
C___1625629_10 |
rs2038677 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2384683 |
|
|
0.31 |
0.37 |
hCV1625629 |
ATAGGTGTTTGTCTCTGAAACTTGAGTGAGTCTTCCTGCC[C/G]TGGAATGATTTGGTTTACCATTGCCAGCATTTTCTCCAAG |
G |
G |
C____780973_10 |
rs216190 |
|
chromosome
17 open reading frame 31 |
C17orf31 |
Intron |
17 |
2394048 |
|
|
0.22 |
0.16 |
hCV780973 |
AATAATGTAATAATCTTGGAGTCTTTTGTCCAAAGTTTCC[A/G]AGTCAACTCCTGGATTAGCCAGTATTTGGACCAAGGTCTG |
C |
C |
C___1625604_10 |
rs170044 |
|
chromosome
17 open reading frame 31|serine racemase |
C17orf31|SRR |
Intron |
17 |
2404093 |
|
|
0.22 |
0.18 |
hCV1625604 |
TCTGTGGAACAGTTAGGACTTGGGGTATGTGATATGTAGT[G/C]ATTATAACTTTGCTGAGGTACAAATTTGAGTTATGTGCTA |
G |
G |
C___1625598_10 |
rs1885987 |
|
chromosome
17 open reading frame 31|serine racemase |
C17orf31|SRR |
Mis-sense
Mutation |
17 |
2409616 |
0.36 |
0.18 |
0.06 |
0.19 |
hCV1625598 |
GAAAGAAACTGGTCTGGCCGTGGGGAGGGTGAGCAGAAAA[A/C]CAGTGCTAAAGAATATCGAGGCACTCTTCGTGTCACTTTC |
G |
G |
C___1625593_10 |
|
|
chromosome
17 open reading frame 31|serine racemase |
C17orf31|SRR |
Intron |
17 |
2414016 |
0.08 |
0.05 |
0.03 |
0.15 |
hCV1625593 |
GCCTGGCCTAAGGTGTCCAGAGGAGCCCAGGCTGAGGGGT[A/G]TCTCTGTCAACCCGAGTCCCAGACTAGCAGTGTCCTTGGT |
T |
T |
C__15954263_10 |
rs2236376 |
IMS-JST016648 |
hypothetical
protein FLJ10534|serine racemase |
FLJ10534|SRR |
Intron |
17 |
2440596 |
0.12 |
0.05 |
0.37 |
0.43 |
hCV15954263 |
ATCTTGAAGGATGAGGGTTGGCTTTAAAAATTTTATCTGA[A/G]AGACTCAACATATTTGGAGAAAGCTTCCTCGCTATTGGGA |
C |
C |
C__25615538_10 |
rs3785558 |
|
hypothetical
protein FLJ10534|serine racemase |
FLJ10534|SRR |
Intron |
17 |
2444205 |
0.19 |
0.21 |
0.03 |
0.16 |
hCV25615538 |
AAGTAAGGCAATAGTCAGTTATAAATAGGTTGATAAATCA[C/T]ATATTTATCCAGCACTTTCTAGGTAGTCTGCACTGTGATT |
A |
A |
C__11954781_10 |
|
|
hypothetical
protein FLJ10534 |
FLJ10534 |
|
17 |
2456495 |
0.39 |
0.31 |
0.41 |
0.3 |
hCV11954781 |
CCACACAAGGAAAGTTTCTACTCGCAGGGGCCTACTGCAT[A/G]TCCAGCTTCTGGACAGACAGGTTTAGGAACAACCACAGCA |
C |
C |
C___3044302_10 |
rs898750 |
|
|
|
|
17 |
2461784 |
|
|
0.38 |
0.44 |
hCV3044302 |
TCTCAGCCTGCACTGGTGATACTGGTTGTTTGCTTCAACT[T/C]TGGAAGGCATTCAGCCCTGCTCAACCCCCAAAACAAGAAA |
A |
A |
C___3044293_1_ |
rs2248821 |
IMS-JST037560 |
|
|
|
17 |
2474902 |
0.5 |
0.49 |
0.34 |
0.23 |
hCV3044293 |
CTTCCCTTGCTGGGTCCACAGCGGGGGCTCTAGCTGTCCC[T/C]GAGGCAGCAGCCCATTCTCCAGACAGGACAGAAAGGACAG |
G |
G |
C___3044291_10 |
rs2002863 |
|
|
|
|
17 |
2476360 |
0.5 |
0.48 |
0.44 |
0.34 |
hCV3044291 |
GCTATCTGTGCTGTGGCTGAGTGTGCCGTCTGGGCAGTCC[A/G]GTCCCTAATACAGAGACAACTTGTTGACAACTTTTTGGCA |
C |
C |
C____780946_1_ |
rs725348 |
IMS-JST037561 |
|
|
|
17 |
2480928 |
0.45 |
0.43 |
0.39 |
0.35 |
hCV780946 |
GCCTGACACTTCCTAGCCTCCAGCAAGCCTGGAGAGGGGC[A/G]CAAGGCGTCCTTCTGCATGTGGTAAAATGCTTGGACTGAG |
C |
C |
C___3044279_1_ |
rs2252910 |
IMS-JST037563 |
MAX
binding protein |
MNT |
|
17 |
2485235 |
0.16 |
0.11 |
0.27 |
0.44 |
hCV3044279 |
ACCCCCTCTCCCACCACAGCCTCCAACACTGTGGCCACGG[A/G]GCACCAAGCCAGCTTCTGACCCAGCCAGCCAGGCAGAGAG |
C |
C |
C___8729994_10 |
rs1540582 |
|
MAX
binding protein |
MNT |
UTR
3 |
17 |
2496290 |
0.04 |
0.08 |
0.08 |
0.13 |
hCV8729994 |
GAAAGCAGAACTGAAGCCACTTGGCCCAGAAAGCTGCGGA[C/T]TGGGGTGATAAGGGGCCTTGCTCTGAGCACAGGTGACAGA |
G |
G |
C___3044269_10 |
rs1970835 |
|
MAX
binding protein |
MNT |
Intron |
17 |
2506357 |
0.27 |
0.21 |
0.49 |
0.45 |
hCV3044269 |
TTGGGAGAAATGGTCGCTGCTGTACCTCCTCCTCCTCAAC[C/T]GCCCTCTCTCACCCAGAACCAGGCAGGTGCACTTTCCCCG |
G |
G |
C___1224586_10 |
rs4613098 |
|
|
|
|
17 |
2525141 |
0.21 |
0.38 |
0.23 |
0.37 |
hCV1224586 |
CTGTGTGGGCTCAAGGAGGATCCCGTCTCCCCTTATGTTT[C/G]TGGTACAGGATCAGATGTGGCCGCCCAGCAGTTGTGCACA |
C |
C |
C___1224592_20 |
|
|
hypothetical
protein MGC3329 |
MGC3329 |
UTR
3 |
17 |
2529367 |
|
|
0.25 |
0.33 |
hCV1224592 |
GTCACTCTTCAAGATGGGGCCTACCTTGCATCAATCCCAC[A/G]AAGGGAGCTGTATGGTGGGTGGTGGGGAATCTGGGAGAGA |
C |
C |
C___7950219_10 |
|
|
hypothetical
protein MGC3329 |
MGC3329 |
Intron |
17 |
2583903 |
0.27 |
0.49 |
0.09 |
0.02 |
hCV7950219 |
GGTTTCGATCCTTTAGGAAGTTGGATCTAATTAGGAGGTA[G/A]GACTAACATACACGAATGACTAGGGAACCCAGTAGCCATA |
T |
T |
C__12117595_10 |
rs2028600 |
|
hypothetical
protein MGC3329 |
MGC3329 |
Intron |
17 |
2585129 |
0.29 |
0.49 |
0.09 |
0.01 |
hCV12117595 |
CTTGTCCAGTAGCACTGGGGCCAGGATACCCTCGGGCAAA[A/C]ATGGTAGGCAATGCAGCGTTCACCGTGACCGTCGGAGAGC |
G |
G |
C__11957222_10 |
rs1867198 |
|
hypothetical
protein MGC3329 |
MGC3329 |
Intron |
17 |
2600032 |
0.17 |
0.16 |
0.13 |
0.13 |
hCV11957222 |
GAAGTCTCCACCCGACGCATCTACCCACCTGCGTGCATAT[C/G]GAGTCCCTACTTACCTTCCAGACTTTTCCTCTGCATCTGT |
G |
G |
C___7950225_10 |
|
|
hypothetical
protein MGC3329 |
MGC3329 |
|
17 |
2621804 |
0.07 |
0.44 |
0.07 |
0.15 |
hCV7950225 |
TTCTTCTTTCTTCAAGATCAGCCACAGGTCGCGCGAGAGG[G/T]ATGTGTCCAATCACGAGGCTAGATGGCTTCACAAGATGGC |
C |
C |
C___9274323_10 |
|
|
platelet-activating
factor acetylhydrolase, isoform Ib, alpha subunit 45kDa |
PAFAH1B1 |
Intron |
17 |
2704640 |
0.29 |
0.23 |
0.11 |
0.17 |
hCV9274323 |
GATTAGACGAAGGGGAATGGCAGGGAGCCTCGAAGCTGAA[C/T]GTTAACAGCATCAAAAGGCAACTCCCGACCGAGGAGCCGG |
G |
G |
C___2593428_10 |
|
|
KIAA0664
protein|platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit
45kDa |
KIAA0664|PAFAH1B1 |
UTR
3 |
17 |
2792820 |
0.07 |
0.23 |
0.03 |
0.13 |
hCV2593428 |
ACATGGAGGTTGATGTGTATGATACACACATACAGACTTA[C/T]CCACTTACAGATAGGCCCATATACTTACAAACATTTACAT |
A |
A |
C___2593444_1_ |
rs1065479 |
IMS-JST037078 |
KIAA0664
protein |
KIAA0664 |
Silent
Mutation |
17 |
2813306 |
0.38 |
0.39 |
0.35 |
0.41 |
hCV2593444 |
TTCACCAGGTGCTCATGGACCGGGAGGACACGTGTCACCG[C/T]ACCTGCTTCTCACTGCACCTGGATGGCAACGTGCTGGACC |
A |
G |
C___2593448_1_ |
rs2286512 |
IMS-JST037079 |
KIAA0664
protein |
KIAA0664 |
Intron |
17 |
2820353 |
0.35 |
0.45 |
0.4 |
0.41 |
hCV2593448 |
GTTGGGACTTGTGGTCTTAACGCCTCATCATCTCCCTTCC[C/T]AGCTTCAGTGAGTGCGCCAGGGCTGACTTGGGAATCAGGA |
G |
A |
C___2275588_10 |
|
|
|
|
|
17 |
2833613 |
0.45 |
0.22 |
0.37 |
0.49 |
hCV2275588 |
AGAGGATTACAGAACCGCCTGGTTGGCCGGACTTGGTCTA[G/C]AGCCGTCTCCAGCTCAGCTCTTCCCGAGTCGCCACCCCGC |
G |
C |
C___2593464_10 |
|
|
|
|
|
17 |
2847696 |
0.46 |
0.17 |
0.4 |
0.45 |
hCV2593464 |
ATGGTCAGCACATGTAGCCAGCGATCCCCACAGGCCAAAG[G/A]GCCACCCCTTGCTGAAATTAAAGGCCTATTTGGATGGCTG |
T |
T |
C____335496_10 |
|
|
|
|
|
17 |
2858873 |
|
|
0.13 |
0.26 |
hCV335496 |
TGAAGCCTGAAGGGGGTGGGGGGCTCCAGTTTCCCCATAC[T/A]CCCCATTCCCGTGTGACTGGATCCTCAGCTTTGCTGAGGT |
A |
A |
C____336414_10 |
|
|
|
|
|
17 |
2974816 |
|
|
0.27 |
0.25 |
hCV336414 |
GTGAAGCATAAGTACCAGGCAGGTGCAGGCCCAGAGCGGG[G/T]ATCCACGAGTGTTTCTGTCTCTGTCCCTTCTCACGTTATT |
A |
A |
C___7945666_10 |
rs1078412 |
|
|
|
|
17 |
3092668 |
0.17 |
0.28 |
0.42 |
0.35 |
hCV7945666 |
ATGACCAAGGCCCGAGGCTTTCCAAGGGATAGAGAGAACT[C/G]TGCAAATAAACACCATTGGTCCTCTCGGTGGCTAAGATTT |
C |
C |
C__12116999_10 |
|
|
|
|
|
17 |
3126292 |
0.29 |
0.26 |
0.44 |
0.38 |
hCV12116999 |
CTGTTGTTCACATACAAGTATCAACACCTCTGCTCCCTGA[G/C]CTCCCCACTGGCAGAGCCAGGTTCTAGCCAAACGTGTCCT |
C |
C |
C_____46203_10 |
|
|
|
|
|
17 |
3145124 |
0.1 |
0.19 |
0.15 |
0.19 |
hCV46203 |
CCTCCAGAAGCCCAGCCAACAAAACGCGTCCAGAACGTAC[A/G]GGCCTCTTTCCAGCCGTGGGGGCTGCTACGGTGACTCTTC |
C |
C |
C_____46202_10 |
|
|
|
|
|
17 |
3145216 |
0.09 |
0.11 |
0.04 |
0.12 |
hCV46202 |
CATCCACCAAGCACCTGTAATGCCGGCTTCCCACAGAGGC[G/A]AGCCAGATCCTGCAACTGTTCTTAAAGAAATGCAGTTTGA |
T |
T |
C_____46191_10 |
rs10805 |
|
|
|
|
17 |
3147311 |
|
|
0.17 |
0.28 |
hCV46191 |
ACTCACACGCCAGCAGTCCCCGAGCTGGAGTGTCCAAGGG[G/T]AACACCCAAAACAGGAGAGAGCTGCACGCATGCTAAGGAG |
A |
A |
C___2973834_10 |
|
|
olfactory
receptor, family 1, subfamily A, member 2|olfactory receptor, family 1,
subfamily G, member 1 |
OR1A2|OR1G1 |
|
17 |
3236145 |
0.13 |
0.14 |
0.2 |
0.22 |
hCV2973834 |
TTAAACAACATGGGACAGCTCATGACTGAAATAAGGGAAT[A/G]TCTGGCTGGGCTGTTGTATAGGGCCAAGAATAAAATTCAG |
C |
C |
C___2769201_10 |
|
|
olfactory
receptor, family 1, subfamily A, member 2|olfactory receptor, family 1,
subfamily G, member 1 |
OR1A2|OR1G1 |
|
17 |
3243798 |
0.09 |
0.26 |
0.22 |
0.31 |
hCV2769201 |
ACCCTGGAAAGCTCCAGAAAACAAAAATCCACTCTTTGCT[T/G]GTGAACTTGGAATACCAAAATTCTTCTGAGACTCCAGAGG |
C |
C |
C___2769202_10 |
|
|
olfactory
receptor, family 1, subfamily A, member 2|olfactory receptor, family 1,
subfamily G, member 1 |
OR1A2|OR1G1 |
|
17 |
3244068 |
|
|
0.22 |
0.32 |
hCV2769202 |
CTTCCTAATTAATTTATTTTTCAATAAGGAGTACATTCAC[A/G]TATTCAAACTCCAAAATGTGCTAAAAGGTACACATGGAAA |
C |
C |
C___1223961_10 |
|
|
olfactory
receptor, family 1, subfamily A, member 2 |
OR1A2 |
|
17 |
3266462 |
0.15 |
0.5 |
0.21 |
0.32 |
hCV1223961 |
TCTTTCTTCAGATATGTAGTTGTTGAAAAGGATACCAAAA[G/T]CTTATGAAAGTTTTATCTGTGACTTGATCAAATTATGTTT |
C |
C |
C__15872442_10 |
rs2241094 |
|
olfactory
receptor, family 1, subfamily A, member 2 |
OR1A2 |
|
17 |
3307393 |
|
|
0.13 |
0.12 |
hCV15872442 |
CAGGTTAAAGGATTGATTTTCTTTCTTCATGGCTTCTTCA[G/T]CATGAAAGGGGAGAGGAACCCAGAATTATTAGCGCAGTTA |
A |
A |
C__15872433_10 |
rs2241093 |
|
olfactory
receptor, family 1, subfamily A, member 2 |
OR1A2 |
Silent
Mutation |
17 |
3307418 |
0.35 |
0.23 |
0.49 |
0.45 |
hCV15872433 |
|
#N/A |
#N/A |
C___1223918_10 |
|
|
olfactory
receptor, family 1, subfamily A, member 1|olfactory receptor, family 1,
subfamily A, member 2 |
OR1A1|OR1A2 |
|
17 |
3317163 |
0.42 |
0.32 |
0.14 |
0.13 |
hCV1223918 |
CAGAAGTGCCCCTTGGGAGCTACAAGGATTATGGTGGAGT[T/G]AAGCTCCTAGTCTTTCTTCCAGTCTGCTGTTTAGACTACA |
A |
A |
C___1223914_10 |
|
|
olfactory
receptor, family 1, subfamily A, member 1 |
OR1A1 |
|
17 |
3320985 |
0.26 |
0.13 |
0.41 |
0.47 |
hCV1223914 |
TGGTGTGTGACATGAGGTGGTTTAGAAACAGGCAAGGAGA[C/G]GATGAACTATTTAGCCCAGAGTCATTGGACAGTTGGTTAT |
G |
G |
C__25641771_10 |
|
|
olfactory
receptor, family 1, subfamily A, member 1 |
OR1A1 |
|
17 |
3326462 |
0.46 |
0.37 |
0.14 |
0.14 |
hCV25641771 |
ATCAGAACTGGATTTCCAATATACCGTAACTGGTGACTAC[G/A]GTATCCAATGTAGGCCCTCACATTGGTTACGAGGAGATTC |
T |
T |
C__11453154_10 |
rs2013809 |
|
olfactory
receptor, family 3, subfamily A, member 2 |
OR3A2 |
Silent
Mutation |
17 |
3388146 |
0.17 |
0.3 |
0.08 |
0 |
hCV11453154 |
GTTTCATCATGGCAGGCACACCTTTGGTTCTCATCATCAC[T/C]GCCTACAGCCACGTGGCAGCTGCAGTTCTACGAATCCGTT |
G |
G |
C___1223867_10 |
rs804234 |
|
olfactory
receptor, family 3, subfamily A, member 1|olfactory receptor, family 3,
subfamily A, member 2 |
OR3A1|OR3A2 |
Intron |
17 |
3392742 |
0.5 |
0.26 |
0.1 |
0 |
hCV1223867 |
GTTGGAGGGAAACCATTGCAGGTGGGGAAAACAGCATGAG[C/G]AAGGAGCTGGAAGATCACAGGGTTGCTGTCCAATGCTTCT |
G |
G |
C___2973823_10 |
rs811696 |
|
olfactory
receptor, family 3, subfamily A, member 1 |
OR3A1 |
|
17 |
3407323 |
0.42 |
0.33 |
0.09 |
0 |
hCV2973823 |
CAAAGGATTTGAGAACTTAGAATTAGTTAGAGGATGTTCC[A/C]GATAAAGTAAATGGTTAGAACAAAGATGGGAAGATACAGA |
T |
T |
C___2963067_10 |
rs231690 |
|
|
|
|
17 |
3412892 |
0.4 |
0.32 |
0.08 |
0 |
hCV2963067 |
GGATCAAATTTCCATATATTATTTACAGGTCCTCTAATGT[G/A]TTATTTTGGTTGATTTCTCTAATTTTGCTCAAATATAACA |
C |
C |
C___2973812_1_ |
rs2301145 |
|
|
|
|
17 |
3426977 |
|
|
0.11 |
0.15 |
hCV2973812 |
CATCTGATCCACTGTATAAATAGTTTCTGGGTTTATGCAC[T/C]GGTACTCAACCTTATTGCCTGTCCGTTTAATAGCTCATAG |
A |
A |
C___3129984_10 |
|
|
|
|
|
17 |
3495967 |
0.36 |
0.35 |
0.5 |
0.47 |
hCV3129984 |
GACCCAAGAAGTAATACATGGGGGAGCGGAGGGCCCCGTC[G/A]GATCTCACCAGCGCCACCATGCTCAGGTTGCTCAGGGCGT |
C |
T |
C___3130002_10 |
|
|
olfactory
receptor, family 3, subfamily A, member 3 |
OR3A3 |
|
17 |
3519654 |
0.02 |
0.07 |
0.1 |
0.06 |
hCV3130002 |
TTGGGAGGGATTCTGGAACTGGAGCATTCACCACTGTTGG[A/C]GTAAGTGGGGTTTGTGATAAGCCCTAGCATGTGATAGCAT |
G |
G |
C___3130009_10 |
rs230437 |
|
olfactory
receptor, family 3, subfamily A, member 3 |
OR3A3 |
|
17 |
3524641 |
0.3 |
0.28 |
0.43 |
0.48 |
hCV3130009 |
CCACAGAAGAGCCTTGGGTGGGTTCTGGGAGTAGACAGCA[G/A]CTCTCCCAGGCTATTTTACTTCCTGTCAACCAAATTCCAT |
T |
T |
C____579838_10 |
rs227787 |
|
olfactory
receptor, family 3, subfamily A, member 3 |
OR3A3 |
Nonsense
Mutation |
17 |
3531401 |
0.23 |
0.33 |
0.44 |
0.48 |
hCV579838 |
AAGGCAGGAAAGGAGGTCATCTCTCAGGTCAGTGATCGCT[T/C]CCCCACAAGTAGCTGACACAGAGCGCCCTGAACATCAGTA |
G |
G |
C___3130016_10 |
rs227802 |
|
olfactory
receptor, family 1, subfamily E, member 2|testes development-related NYD-SP20 |
OR1E2|NYD-SP20 |
|
17 |
3548906 |
0.16 |
0.19 |
0.18 |
0.19 |
hCV3130016 |
TGAAGCTGGTCAAAGGCTGCACAGAATTGGTTATTGCAAC[C/T]ATGGCTGGAATAAGAGAAGATGGCTGAGAGAATTTGAAGT |
A |
A |
C___3130025_1_ |
rs1488690 |
IMS-JST044030 |
testes
development-related NYD-SP20 |
NYD-SP20 |
Mis-sense
Mutation |
17 |
3558922 |
0.17 |
0.24 |
0.42 |
0.31 |
hCV3130025 |
AACAAACTTAGTGGCAAATGATGGAAAAAATTCTTGTCCA[G/A]TGAGTTCGGGAGCTCAACAACAAAAACAATTAAGAATACC |
T |
T |
C___3130029_10 |
|
|
testes
development-related NYD-SP20 |
NYD-SP20 |
Intron |
17 |
3560096 |
0.16 |
0.24 |
0.41 |
0.31 |
hCV3130029 |
TTTGGATTATTTACCTAAGTAGGGGATGGGTTGTATTGGT[G/T]GCCCTCTTGTGATACTTGTGGTATTTCCAGGAAAATTACT |
C |
C |
C___3130047_10 |
rs2318035 |
|
testes
development-related NYD-SP20 |
NYD-SP20 |
Intron |
17 |
3569660 |
0.33 |
0.46 |
0.42 |
0.34 |
hCV3130047 |
ACTTTATTTGCCTCTGGAACACTCTCTTGACAGTCTCATC[C/T]TTGTTAACAGTTCTGACTGCAGTTGAATATTGTATTTCTA |
G |
G |
C___3130057_10 |
|
|
aspartoacylase
(aminoacylase 2, Canavan disease)|testes development-related NYD-SP20 |
ASPA|NYD-SP20 |
Intron |
17 |
3576187 |
0.16 |
0.27 |
0.42 |
0.34 |
hCV3130057 |
CTCTGGAAGAGGAATGGGCAGGCAGACATTCTGAAGTATA[C/T]GTGGTACATGCTGGTTATATACATTTACATTTTGGGGGCA |
A |
A |
C___1206951_10 |
|
|
aspartoacylase
(aminoacylase 2, Canavan disease)|testes development-related NYD-SP20 |
ASPA|NYD-SP20 |
Intron |
17 |
3587104 |
|
|
0.49 |
0.36 |
hCV1206951 |
TGGTATCCCATCTACAACAATCCACCATGGAAGTTAAGTA[C/T]GTCTGCTACTTCGGATCACAGGGAGGTCTGATGTCTTTAT |
A |
A |
C___3130078_10 |
|
|
aspartoacylase
(aminoacylase 2, Canavan disease) |
ASPA |
Intron |
17 |
3593149 |
|
|
0.4 |
0.48 |
hCV3130078 |
CATATACAATTGAATTATACAGTGTCTTTCCAGGTAAAAT[G/A]TACATTAAATAGTTCTCCAGAACCATGATCAAAAAACATG |
T |
C |
C__12115128_10 |
rs1873061 |
|
aspartoacylase
(aminoacylase 2, Canavan disease) |
ASPA |
Intron |
17 |
3600035 |
0.11 |
0.26 |
0.49 |
0.47 |
hCV12115128 |
CTGGGTTTTGCCTCCCGTCCCCGGTAACTATTGTTATCAG[C/T]TTGGTGTGTTTTCTTCTAGGACTTTCCCTGTGATGTGTTA |
A |
A |
C___1206944_10 |
rs2035939 |
|
aspartoacylase
(aminoacylase 2, Canavan disease) |
ASPA |
Intron |
17 |
3602988 |
0.41 |
0.28 |
0.06 |
0.04 |
hCV1206944 |
AAGGAGTAGTTTATGCATATACCAGGCTATCTCTGAGCAA[G/A]CAGGATGAACGTTTGGTCCAATGTAGGGCCCACAGCGTGT |
C |
C |
C___1206865_10 |
rs381626 |
|
transient
receptor potential cation channel, subfamily V, member 3 |
TRPV3 |
|
17 |
3657745 |
0.4 |
0.41 |
0.21 |
0.33 |
hCV1206865 |
AAGGTGGAGCTGGCGGTGTGTCTGGCTGGGAGTCACATCA[C/T]GGGTGTATGTCTTGCTTCTTATAGGCCAGCGTCTCTCCTT |
G |
G |
C___1497996_10 |
rs322957 |
|
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like|transient receptor potential cation channel, subfamily V, member
3 |
TRPV1|CARKL|TRPV3 |
|
17 |
3668721 |
|
|
0.26 |
0.24 |
hCV1497996 |
CTGCCTCCTGCCTCCTCCCCAGGCCAGGCAGGTTGTGATG[A/T]TGAGGGATTGAGAGGCTCACAGCTGGGGATTTCCCTGCCC |
A |
A |
C___3269499_10 |
|
|
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like|transient receptor potential cation channel, subfamily V, member
3 |
TRPV1|CARKL|TRPV3 |
UTR
3 |
17 |
3676444 |
0.06 |
0.3 |
0.24 |
0.26 |
hCV3269499 |
CTAACAGACTTTCAGGTTTTTACTCACTTTACTAAACAGT[G/T]TGGATGGTCAGTCTCTACTGGGACATGTTAGGCCCTTGTT |
A |
A |
C___3269504_1_ |
rs224547 |
IMS-JST074692 |
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like |
TRPV1|CARKL |
Intron |
17 |
3681609 |
0.46 |
0.22 |
0.27 |
0.28 |
hCV3269504 |
GCCCTCCCCGACCCACCACATCTCCATCCTGATGGGTGGG[C/T]TTCTTGGGCTTGGCCTGTGGGCAGAGCCCTTGGCCCGGGA |
G |
G |
C__11679656_10 |
|
|
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like |
TRPV1|CARKL |
Mis-sense
Mutation |
17 |
3687037 |
0.36 |
0.2 |
0.38 |
0.33 |
hCV11679656 |
GATGATCCTGAGAGACCTGTGCCGTTTCATGTTTGTCTAC[A/G]TCGTCTTCTTGTTCGGGTTTTCCACAGGTAATGAGCTTGG |
T |
T |
C___3269521_1_ |
|
|
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like |
TRPV1|CARKL |
Intron |
17 |
3695461 |
|
|
0.23 |
0.31 |
hCV3269521 |
CCTCGTATCCCTGCGCCCATCTCCCCTGCCTCAGGCTGTA[C/T]AGGAGACCCGCCCCCTTCCCGCTTCTCAGTTCCTCTCCTT |
A |
A |
C___1093688_20 |
rs222747 |
IMS-JST074689 |
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like |
TRPV1|CARKL |
Mis-sense
Mutation |
17 |
3699790 |
0.27 |
0.11 |
0.38 |
0.43 |
hCV1093688 |
ACACGAAGTTTGTGACGAGCATGTACAATGAGATTCTGAT[C/G]CTGGGGGCCAAACTGCACCCGACGCTGAAGCTGGAGGAGC |
G |
C |
C___3269525_10 |
|
|
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like |
TRPV1|CARKL |
Intron |
17 |
3701458 |
|
|
0.27 |
0.33 |
hCV3269525 |
AGCCAGTGGTCTGGGAGTAGGAGGGTGACTTTCTAGATGG[C/T]GTCTATAGACAGGGTGGGGACAGAATGGGGACACATGCCC |
A |
A |
C___3269549_10 |
rs182637 |
|
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like |
TRPV1|CARKL |
Intron |
17 |
3716422 |
|
|
0.27 |
0.36 |
hCV3269549 |
TGCTTCTGAAGAAGTGGTGAGCGGGGCTCCTTTGCTGGCC[G/A]TCAGTATCCCGATGCTATGAGCCCACGGCAGGGCTGCACC |
C |
C |
C___2952709_10 |
rs150854 |
|
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like |
TRPV1|CARKL |
Intron |
17 |
3725650 |
0.42 |
0.21 |
0.26 |
0.32 |
hCV2952709 |
CCTGGACATATTTTTAAAACCCCACCCTCTCTCAGTGCCA[A/C]ATTGTGACTTGTGACCTCTGAGTTAGCCCGACAGGCCACC |
T |
T |
C___3269563_1_ |
rs367264 |
IMS-JST047161 |
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like |
TRPV1|CARKL |
Intron |
17 |
3733072 |
0.22 |
0.14 |
0.01 |
0.1 |
hCV3269563 |
GAGGCCAGGATCAGGGTCCAGTGCCCCTGGCCTGTCCCAG[A/T]CACGGGGCATGGATGGGCCCAGTGTAAGCACAGCCCTGAG |
T |
T |
C___3269564_1_ |
rs150857 |
IMS-JST047162 |
transient
receptor potential cation channel, subfamily V, member 1|carbohydrate
kinase-like |
TRPV1|CARKL |
Nonsense
Mutation |
17 |
3733227 |
|
|
0.2 |
0.15 |
hCV3269564 |
CTGGGGCTATTTCAACACGCAGAGCCAAAGCTGGAACGTA[G/A]AGACGTGAGTATCACATCCTTGCAGGCTGTTCCTCCTGCT |
T |
T |
C___1093744_10 |
|
|
transient
receptor potential cation channel, subfamily V, member 1|cystinosis,
nephropathic|carbohydrate kinase-like |
TRPV1|CTNS|CARKL |
Intron |
17 |
3749045 |
0.43 |
0.38 |
0.17 |
0.19 |
hCV1093744 |
|
#N/A |
#N/A |
C___1093747_10 |
rs551581 |
|
transient
receptor potential cation channel, subfamily V, member 1|cystinosis,
nephropathic|carbohydrate kinase-like |
TRPV1|CTNS|CARKL |
Intron |
17 |
3749183 |
0.43 |
0.36 |
0.17 |
0.16 |
hCV1093747 |
TTCACAAGGAGGACTCGGGGAGGGATGAGCCCCAGAGCAA[C/G]TCCTTGGTTTAGTGTGGAAGATGGGGAGCTGCATTCCTGT |
G |
G |
C___1093761_10 |
rs224500 |
|
transient
receptor potential cation channel, subfamily V, member 1|cystinosis,
nephropathic|carbohydrate kinase-like |
TRPV1|CTNS|CARKL |
Intron |
17 |
3755037 |
0.48 |
0.49 |
0.17 |
0.15 |
hCV1093761 |
TCTGCCCTTCTTTTTCAGGCTCACTGTTCTGAGGTCATTC[C/T]GAGGATTTCTTCTGGGCTTGCATAGCTGGGACTTCCTGTA |
G |
G |
C___1093771_1_ |
rs222778 |
IMS-JST047163 |
cystinosis,
nephropathic |
CTNS |
Intron |
17 |
3758628 |
0.44 |
0.2 |
0.17 |
0.14 |
hCV1093771 |
CTGGATTTCACATCTGGCCTTCAACTCTCAAGCAGTTAGG[C/T]TTAGGAAATGCTAGGTGCTCCACCCTGATGGGTAGCCAGG |
A |
A |
C___8728502_10 |
rs1048682 |
|
Tax
interaction protein 1|cystinosis, nephropathic|hypothetical protein MGC2963 |
TIP-1|CTNS|MGC2963 |
UTR
3 |
17 |
3771369 |
0.27 |
0.16 |
0.24 |
0.22 |
hCV8728502 |
TAGGTTTTAATTCAAGATACAGGCCCCTCGCGTTGATCTC[G/A]TAGAAGGAAACTCAGTGGACTGACAAGCTCAAGTCATGTA |
T |
T |
C___3269622_1_ |
rs8278 |
IMS-JST067867 |
Tax
interaction protein 1|cystinosis, nephropathic|hypothetical protein
MGC2963|purinergic receptor P2X, ligand-gated ion channel, 5 |
TIP-1|CTNS|MGC2963|P2RX5 |
Silent
Mutation |
17 |
3774602 |
0.16 |
0.18 |
0.27 |
0.33 |
hCV3269622 |
TAATCCTGGGTTTCAGCATTGGAGGTGGAATCGACCAGGA[C/T]CCTTCCCAGAATCCCTTCTCTGAAGACAAGACGGACAAGG |
A |
A |
C___3211374_10 |
|
|
Tax
interaction protein 1|hypothetical protein MGC2963|purinergic receptor P2X,
ligand-gated ion channel, 5 |
TIP-1|MGC2963|P2RX5 |
|
17 |
3783736 |
0.15 |
0.09 |
0.24 |
0.19 |
hCV3211374 |
GTTCTGATATTCCAGGAGCACGTGAATTGCCTCTGCTTAC[G/A]TTCAGGCCCTGTCCTAAACCCAGCCGTCTAGCACCCAGTG |
T |
T |
C___3211349_10 |
rs222775 |
|
purinergic
receptor P2X, ligand-gated ion channel, 5 |
P2RX5 |
|
17 |
3792367 |
|
|
0.4 |
0.38 |
hCV3211349 |
CCGCACAGGCCCTGCGGCATTTCCCAGATGTGACAGGCTT[G/C]TTCCTCCCTCCGTAATGTCCTTCCGCCTCTTTGTCTTGTA |
G |
G |
C___3211336_10 |
rs2567870 |
|
purinergic
receptor P2X, ligand-gated ion channel, 5 |
P2RX5 |
|
17 |
3810847 |
0.39 |
0.25 |
0.38 |
0.43 |
hCV3211336 |
AGGAGGGGGGCCGTGGTGAGGCAGTGAGGGGGTTGTGACT[G/T]CTCTGAACACCAGCCATTCGCCCTGGGCCCCTGGCTGGGG |
A |
A |
C___3211391_10 |
|
|
haspin|integrin,
alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha
polypeptide) |
GSG2|ITGAE |
Mis-sense
MutationIntron |
17 |
3834802 |
|
|
0.34 |
0.37 |
hCV3211391 |
TTTGCTCTTCCGGCTTGATCTAGTTCTCTCCAGCCTGTCT[G/A]TTCCCCTTGGCACAATGCGGCCCTTGGGAACACTGGCCTC |
C |
C |
C___3211392_10 |
rs3809806 |
|
haspin|integrin,
alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha
polypeptide) |
GSG2|ITGAE |
Mis-sense
MutationIntron |
17 |
3834952 |
0.39 |
0.33 |
0.37 |
0.44 |
hCV3211392 |
|
#N/A |
#N/A |
C___8728423_10 |
rs1183610 |
|
integrin,
alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha
polypeptide) |
ITGAE |
Nonsense
Mutation |
17 |
3855804 |
0.26 |
0.13 |
0.45 |
0.42 |
hCV8728423 |
|
#N/A |
#N/A |
C__11679309_10 |
rs1178562 |
|
integrin,
alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha
polypeptide) |
ITGAE |
Intron |
17 |
3856162 |
0.13 |
0.49 |
0.14 |
0.24 |
hCV11679309 |
CCACGGTGCTTCCAGCTGTGCCGTCCTGGGGTTTTTCTCC[G/T]CAGAGTCCCTCTTTCCCTCTCCATTCTCTTTGTTGTCTCT |
A |
A |
C___3211474_1_ |
rs1178563 |
IMS-JST067868 |
integrin,
alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha
polypeptide) |
ITGAE |
Intron |
17 |
3860549 |
0.31 |
0.26 |
0.3 |
0.2 |
hCV3211474 |
CTCTTTCCCTTACTCTCCCCTGTCAAGTCCCACCTGCCCT[A/T]CGAGGCTCCATCCAAATGCCACTTCCTCTGGGAAAGCTTG |
T |
T |
C___3211473_1_ |
rs2272604 |
|
integrin,
alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha
polypeptide) |
ITGAE |
Intron |
17 |
3860596 |
|
|
0.12 |
0.18 |
hCV3211473 |
TGGCCCTGGCTGCTTCTCAGAAGGCCCTGCTCTTTCCCCA[T/C]GCCTCACTCTTTCCCTTACTCTCCCCTGTCAAGTCCCACC |
G |
G |
C___3211462_10 |
rs220470 |
|
integrin,
alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha
polypeptide) |
ITGAE |
Intron |
17 |
3871565 |
0.31 |
0.2 |
0.23 |
0.18 |
hCV3211462 |
TGACCCAGCACACTCCTGCAGGTGTCGGCCTCGGCCTTGA[C/T]GCCAACACTGACTCCTACACCCGGTGAGGGGTGGGCCAGC |
G |
G |
C__11679303_10 |
|
|
integrin,
alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha
polypeptide) |
ITGAE |
Intron |
17 |
3877473 |
0.33 |
0.34 |
0.21 |
0.17 |
hCV11679303 |
ACCCCACAAAATAACAGGAGGCTATTACCATCAACAAGGC[A/C]GGACGATGATGGAAGGAGCATCTGGAGAAGAGTTGCTTTC |
G |
G |
C___2061119_10 |
|
|
integrin,
alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha
polypeptide) |
ITGAE |
Intron |
17 |
3892699 |
0.08 |
0.11 |
0.12 |
0.21 |
hCV2061119 |
TGTCATTCCTTATATCGTGTTTACTCAGTGTATTTAGAGA[T/C]GAAAAAGTCACTAAACCAAAAAAAGGAGTGTTGCCAAGAA |
A |
A |
C___8718725_10 |
rs758642 |
|
calcium/calmodulin-dependent
protein kinase kinase 1, alpha |
CAMKK1 |
|
17 |
3993497 |
|
|
0.11 |
0.17 |
hCV8718725 |
GGCTAGGCTCAGATATGGCCACCCCCAACCCCGCTTAACA[T/C]TTACCTGGGCCACACCCTCAGGGCCAGTAGCAGATGTCCA |
A |
A |
C___2649820_10 |
rs753511 |
|
purinergic
receptor P2X, ligand-gated ion channel, 1|calcium/calmodulin-dependent
protein kinase kinase 1, alpha |
P2RX1|CAMKK1 |
|
17 |
3999788 |
|
|
0.38 |
0.41 |
hCV2649820 |
GGCCTGACCAGGGCCTGACCAGCTCCCAGGTGGAGCTACT[C/T]GAACCCGCGTGGATGGCAGCAGGGTCTGCCTGCTCTGGGG |
A |
G |
C____342185_10 |
|
|
purinergic
receptor P2X, ligand-gated ion channel, 1|ATPase, Ca++ transporting,
ubiquitous |
P2RX1|ATP2A3 |
|
17 |
4028578 |
0.38 |
0.28 |
0.08 |
0.03 |
hCV342185 |
ATTGACCCCGACAGCTGGCTGTCTTGCTCTTGTGGAGTTA[G/T]CAGCAGCAGGAAAATAAATGTAGGTCCCTGGGGTACACTG |
A |
A |
C___2649753_10 |
rs758641 |
|
ATPase,
Ca++ transporting, ubiquitous |
ATP2A3 |
|
17 |
4053392 |
|
|
0.06 |
0.04 |
hCV2649753 |
CTCCCTATCCCCTGGGTCCTTGCCAGGCCAAGGGTGTGTA[C/T]GAGAAGGTGGGAGAGGCCACGGAGACAGCTCTGACTTGCC |
G |
G |
C___2649746_10 |
rs1800915 |
|
ATPase,
Ca++ transporting, ubiquitous |
ATP2A3 |
|
17 |
4063205 |
|
|
0.38 |
0.44 |
hCV2649746 |
GCCCTTGTCTCCTTTGTAAGTAGGGCCCTGCCAGCCATCC[C/T]GTGGTAGTCGGTAGCCCTGGAGGGAGAGCCAGGCTGGGCA |
G |
G |
C___2649743_10 |
rs1468573 |
|
ATPase,
Ca++ transporting, ubiquitous |
ATP2A3 |
|
17 |
4064794 |
|
|
0.18 |
0.31 |
hCV2649743 |
TCCTCCGTGCCCGGGTCTGTGAAGCAGGGCAGGAACTCCC[T/C]GCCACCTGCCTGCCCTTTAGGCTGTAGGAATGATTCAACC |
G |
G |
C___1712726_10 |
|
|
KIAA0399
protein |
KIAA0399 |
Intron |
17 |
4150844 |
0.32 |
0.35 |
0.28 |
0.39 |
hCV1712726 |
TTCTGCTAACTTTAGCTGCCTCAGCTGCCTCTGTGTCAAT[C/T]AGAGCTGCACCTTTTCCATAGCTCACTGGGTAGCACGTTG |
G |
G |
C___7948683_10 |
rs781831 |
|
KIAA0399
protein |
KIAA0399 |
Mis-sense
Mutation |
17 |
4154234 |
0.42 |
0.26 |
0.29 |
0.39 |
hCV7948683 |
ACTTTTGTTTTTTTAGGGAAAGAGAGCTGTTCATGAGGAA[A/G]TCAGACCTGTAGATTTCAAGCAGAGAAATAAGGCAGATAA |
C |
C |
C___7948676_1_ |
rs781850 |
IMS-JST045622 |
KIAA0399
protein |
KIAA0399 |
Intron |
17 |
4163714 |
0.43 |
0.35 |
0.21 |
0.33 |
hCV7948676 |
CTGTCGTGCTTCCTTCTTCTATCATGCTGGGTGTAGCCAC[G/A]TAATAAACACTCGGGACCAGTGTATGTATGTTCAGTGGAG |
C |
C |
C___8728077_10 |
rs781842 |
|
KIAA0399
protein |
KIAA0399 |
Intron |
17 |
4165545 |
0.42 |
0.32 |
0.21 |
0.34 |
hCV8728077 |
AAAATTGGCTCTTAAAGCTGATGTACAATATGAGGTGCCA[G/A]TTTACTAATTTACAGTGAGAAATAGAATTGCTGGAGGGCC |
T |
T |
C___1712718_1_ |
rs781839 |
IMS-JST045621 |
KIAA0399
protein |
KIAA0399 |
Intron |
17 |
4168079 |
0.43 |
0.33 |
0.21 |
0.31 |
hCV1712718 |
AGGTCACCTACTTGAATTGCTTCTGTTGCCTCTGTTGGGA[G/A]TAAGCAGCTCTGCTAATGGTCACTTTCATGGCCCTTTAGG |
T |
T |
C___7948620_10 |
|
|
KIAA0399
protein |
KIAA0399 |
Intron |
17 |
4192454 |
0.35 |
0.42 |
0.11 |
0.29 |
hCV7948620 |
CCTCATACTTGAGAACAGTGGGGTGGTGATGTTTCATTGC[C/T]GCTCTAGGTCTCTGGAATGTCATGGACTAGACTTTCTGAA |
A |
A |
C___9274469_10 |
|
|
KIAA0399
protein |
KIAA0399 |
Intron |
17 |
4214133 |
|
|
0.11 |
0.3 |
hCV9274469 |
CAAGAGGGTTGGAGTAGTTCTTACCTGTTGGAGGGAGGAA[A/G]CTAGCCAAGATACGGTGCAAAGGGATCTTTGTCTTAGAAT |
C |
C |
C__12116463_10 |
rs965515 |
|
hypothetical
protein MGC32124 |
MGC32124 |
|
17 |
4244739 |
0.18 |
0.13 |
0.12 |
0.31 |
hCV12116463 |
CCTCGCCATATACTTTCAAACTCCTAGTTACCCATTAAAG[T/C]ACAGTTTAAGGGTTGTTTTTTTCTGGGCCATTTCCCCTAA |
A |
A |
C__12118014_10 |
|
|
hypothetical
protein MGC32124|ankyrin repeat and FYVE domain containing 1|ANKHZN protein |
MGC32124|ANKFY1|ANKHZN |
|
17 |
4272994 |
0.45 |
0.32 |
0.28 |
0.32 |
hCV12118014 |
TGCTTACCCCTAGGTCAGACTAGCTGTGGTGATTGATAGA[G/A]CTCATAAAGCTCATTCTCCAGTGGCTTTTCTCCTAGTTAA |
C |
C |
C__12118013_10 |
|
|
hypothetical
protein MGC32124|ankyrin repeat and FYVE domain containing 1|ANKHZN protein |
MGC32124|ANKFY1|ANKHZN |
|
17 |
4273247 |
0.45 |
0.38 |
0.28 |
0.32 |
hCV12118013 |
CAGTCTCAGTCACCGTCACCTGACCCCTCTGAAGTTCTCA[G/A]GAGGATCCACTCATGAGGAGCTTTCTGCTGGCCGAGGCGT |
T |
T |
C___2105411_10 |
|
|
ankyrin
repeat and FYVE domain containing 1|ANKHZN protein |
ANKFY1|ANKHZN |
Intron |
17 |
4281748 |
0.41 |
0.32 |
0.27 |
0.3 |
hCV2105411 |
GAGCCCTCTGCGCAGCTGTGTGGCTGCTGCATTCCCATTC[A/G]CTCACCTCTGTGGTCTTGGCAGAAATGGAGTCACCATGGG |
T |
T |
C___8727994_1_ |
rs2020118 |
|
ankyrin
repeat and FYVE domain containing 1|ANKHZN protein |
ANKFY1|ANKHZN |
Silent
Mutation |
17 |
4294881 |
0.09 |
0.38 |
0.1 |
0.04 |
hCV8727994 |
CGTTGCACACAGCGTGTCGGCATGGCCTGGCCAACCTCAC[A/G]GCAGAGCTCCTGCAGCAAGGCGCCAACCCAAACCTGCAGA |
C |
C |
C___2105425_1_ |
rs2304586 |
|
ankyrin
repeat and FYVE domain containing 1|ANKHZN protein |
ANKFY1|ANKHZN |
Intron |
17 |
4305588 |
0.29 |
0.19 |
0.11 |
0.26 |
hCV2105425 |
CTGTGCCTTCAGGAAGGGGTTGGGATTGAGTTGGGGAGTA[C/T]TTGAGATCACTTCCTTGAGCTGATTCTTGTCCATTTTGGC |
G |
G |
C__11953168_10 |
rs2053256 |
|
ankyrin
repeat and FYVE domain containing 1|ANKHZN protein |
ANKFY1|ANKHZN |
Intron |
17 |
4315238 |
0.41 |
0.21 |
0.24 |
0.3 |
hCV11953168 |
TTTTCCATAGTCTTACTAATTCATGAGTCCCAAATGGATC[C/T]GGGCTGATTTTGCTTTGCAATGGTCATTTTAGACAGAGTG |
G |
G |
C___2105392_10 |
|
|
ankyrin
repeat and FYVE domain containing 1|ANKHZN protein |
ANKFY1|ANKHZN |
Intron |
17 |
4327084 |
0.4 |
0.17 |
0.23 |
0.28 |
hCV2105392 |
TATTCCTTTAAGTTGGGTATACTGTCATTTACTTTATTAG[C/G]CTCAAATTTTAGGGATCCCTTGAGAAAGTCTAAGCATGTC |
C |
C |
C___3230808_10 |
|
|
ankyrin
repeat and FYVE domain containing 1|ANKHZN protein |
ANKFY1|ANKHZN |
Intron |
17 |
4330489 |
0.39 |
0.28 |
0.27 |
0.27 |
hCV3230808 |
AAGCTTGTAAATCACTTGAACCTCATTTTGTTTGAAATAT[C/G]AAGCCCTCCCAGGAAATCCCTACTGAAAGTAGTTTAAAAA |
G |
G |
C___3230801_10 |
rs2053254 |
|
ankyrin
repeat and FYVE domain containing 1|ANKHZN protein |
ANKFY1|ANKHZN |
Intron |
17 |
4347259 |
|
|
0.23 |
0.27 |
hCV3230801 |
ATGTTCTGTTTTGCATAGAGTATTCTGTTTCTTCTTTGAC[C/A]ATTAATAATGTTCTACTGTGTTAACAGCAGTTTGTAATAA |
G |
G |
C___3229342_10 |
|
|
ankyrin
repeat and FYVE domain containing 1|ANKHZN protein |
ANKFY1|ANKHZN |
Intron |
17 |
4352364 |
0.39 |
0.31 |
0.23 |
0.26 |
hCV3229342 |
GATGAGGGATTAGTGAATGCCACCTGCTTTCCAGCAGCCA[C/T]GGTGAACTTGATTCTTCGTTTTCCTTGCAGAGGAGGTGGC |
A |
A |
C___2102654_10 |
|
|
ankyrin
repeat and FYVE domain containing 1|ANKHZN protein |
ANKFY1|ANKHZN |
Intron |
17 |
4357431 |
|
|
0.27 |
0.26 |
hCV2102654 |
TCCTCCATTATACTGTGAAATGGTATGGCAATTGAAGTAG[C/T]GCTGGTAAGTGCTCATAAGCTGCCTGAGTGCATTAGTGAT |
G |
G |
C___1040385_10 |
rs733622 |
|
ubiquitin-conjugating
enzyme E2G 1 (UBC7 homolog, C. elegans) |
UBE2G1 |
Intron |
17 |
4387712 |
0.33 |
0.29 |
0.26 |
0.24 |
hCV1040385 |
GCAGCCTCACCTGTCTCTTCTTGAAGGCTGGCTTTTCTCA[T/C]GGCTTTATCACCATGCACTTTCTGAGTATTTTTTGTGTTT |
G |
G |
C___2105382_10 |
rs2325988 |
|
ubiquitin-conjugating
enzyme E2G 1 (UBC7 homolog, C. elegans) |
UBE2G1 |
Intron |
17 |
4405874 |
0.31 |
0.46 |
0.23 |
0.22 |
hCV2105382 |
TGGATAACTCTTCTATGTGTATTCATAGGTGTAAGATTAC[C/T]GGCAGTGTCATATGAAACAACATATTACATTTTTTAAGCC |
G |
G |
C___2105371_10 |
|
|
ubiquitin-conjugating
enzyme E2G 1 (UBC7 homolog, C. elegans) |
UBE2G1 |
Intron |
17 |
4419835 |
0.31 |
0.4 |
0.24 |
0.22 |
hCV2105371 |
TGGAACAAGCAAAGGACACAATTATGCCTGTAGAAGAAAT[A/G]CATGGAAAGAATGGGCAAAAGATTTCAAGAACTTGGGGGT |
T |
T |
C____512207_10 |
|
|
ubiquitin-conjugating
enzyme E2G 1 (UBC7 homolog, C. elegans) |
UBE2G1 |
Intron |
17 |
4439949 |
0.31 |
0.4 |
0.23 |
0.22 |
hCV512207 |
GCTCTGGGTGGTCTAGCTAAACTAGTCTTTTACGTCATAC[G/A]TGTAAAACTTTGTAGATGCAATAACTCATGGCTCTGGGTA |
T |
T |
C___2691152_10 |
|
|
ubiquitin-conjugating
enzyme E2G 1 (UBC7 homolog, C. elegans) |
UBE2G1 |
Intron |
17 |
4446765 |
0.33 |
0.31 |
0.26 |
0.23 |
hCV2691152 |
TTTTATAACTGTTGCATAGAGACTTGATCTCATTCTTTCA[C/T]ATGTTCAGCCATTTTGTCGTTTATGTATTTGATCTTTCAG |
A |
A |
C___8717789_10 |
|
|
|
|
|
17 |
4526196 |
0.42 |
0.26 |
0.44 |
0.44 |
hCV8717789 |
GACAGAGCCTGAGCTTGTCCCCTGGGTCTTCAGGTTCTTT[C/A]TTTGGTAGTGAGAGTTGAGGCTGGAGTCTCAGCTGTGCCC |
A |
A |
C___2691077_10 |
|
|
hypothetical
protein MGC29671 |
MGC29671 |
|
17 |
4543352 |
0.26 |
0.23 |
0.29 |
0.47 |
hCV2691077 |
CAGGATGAGCACCTACCCAGGATCTAAGGTCCTTCCCGGA[G/A]AAACAAAGGTAGCAGAGGGGGCTGCCTACAAGAAGACAGC |
C |
C |
C___2691056_10 |
rs884250 |
|
hypothetical
protein MGC29671 |
MGC29671 |
Intron |
17 |
4558230 |
0.14 |
0.2 |
0.23 |
0.27 |
hCV2691056 |
GAGGTGGAGAGAGGGGGTCAATGATGCTGGGGCAGACAAA[C/T]GGGCTTTTCTGTGCCTTGCAGGGGGTAGCAGGGATACTCA |
A |
A |
C___2691055_10 |
rs884251 |
|
hypothetical
protein MGC29671 |
MGC29671 |
Intron |
17 |
4558377 |
0.13 |
0.19 |
0.22 |
0.27 |
hCV2691055 |
CTCCCTCCCACTCTGTCCATATTTCTGTCACATGGCAAGG[A/T]GATGGAGGCTGAGCCCTAAGGGAGGGAGAGGCACTTCAGT |
T |
T |
C___2691047_10 |
|
|
hypothetical
protein MGC29671 |
MGC29671 |
Intron |
17 |
4561082 |
0.48 |
0.49 |
0.22 |
0.24 |
hCV2691047 |
GAAGAAGTGCTTTCTAAACCTTCCCAGGCTTCCAAGCTGT[C/G]CGAGGTCTGGCTCAGCCCAGTCAAATGACCCAAATCCCGG |
G |
G |
C___3109431_10 |
rs333128 |
|
hypothetical
protein MGC29671 |
MGC29671 |
Intron |
17 |
4591377 |
0.42 |
0.42 |
0.24 |
0.08 |
hCV3109431 |
CCTCGTGGCTTTCTTGGCCGCCCAAAGCTGTTCACGTGAA[C/T]GTGCCCTGCCCTTAGCTTCCTGCTCCCTTGTTCTGTGGAC |
G |
G |
C___3109424_10 |
rs170775 |
|
hypothetical
protein MGC29671 |
MGC29671 |
Intron |
17 |
4593090 |
|
|
0.42 |
0.42 |
hCV3109424 |
CGAGGGCGAAACCAGGGCCACCCAAGGGCTTGCAGCAAGT[C/T]GGAGCAGCAGCCACCAGGCAGCCTGCCTCCTGCACCCCCA |
A |
A |
C____926682_1_ |
rs333122 |
IMS-JST044234 |
hypothetical
protein MGC29671 |
MGC29671 |
Silent
Mutation |
17 |
4597743 |
0.35 |
0.18 |
0.47 |
0.44 |
hCV926682 |
GACCTCAGGGCTCCTCTGTAGAGGCGCCAGCGCCCGAAAG[C/T]AGGCCTTGTCTCTCCAGGTCGTTGCTGTCCACATCATTGC |
G |
G |
C___3109421_10 |
rs333116 |
|
hypothetical
protein MGC29671 |
MGC29671 |
|
17 |
4602700 |
0.41 |
0.41 |
0.1 |
0.08 |
hCV3109421 |
ACTGGTTGGGGCCCCCGTTCCCTCCCCCAGCCCGAGCCTA[C/T]CTTTGCTCAGAACGCTTCGTCTCTGCCTCTCTCTCCTGCT |
G |
G |
C___1893713_10 |
|
|
|
|
|
17 |
4622416 |
0.24 |
0.19 |
0.25 |
0.16 |
hCV1893713 |
GGGTACAGAGGGAAGCAGGCGGGGCTCCAGGCCCGTTTTC[G/T]TGGGAGAAGTGGATTTCTTGAGGCCACACCCGCTTCCAAG |
C |
C |
C___1893687_10 |
|
|
|
|
|
17 |
4636611 |
0.42 |
0.4 |
0.23 |
0.23 |
hCV1893687 |
ACCCCGCCATTGTTCTTCAAACTTTTCCAGAGCTCAGCAC[A/T]GCCACAGAAGGAAGCCCAGGCCCTCTAGCCTGGCATTCAA |
A |
A |
C___1893679_10 |
rs1351231 |
|
MYB
binding protein (P160) 1a |
MYBBP1A |
|
17 |
4640190 |
|
|
0.44 |
0.44 |
hCV1893679 |
CTCATAGGCACTGGGGACACAAGCCTATGTCTCCACTACT[A/C]CACCAACTGGGAGACCCCTCCCTGGTTCTGACTTCACTTC |
T |
T |
C____277457_10 |
rs1045845 |
|
MYB
binding protein (P160) 1a |
MYBBP1A |
|
17 |
4648475 |
0.42 |
0.37 |
0.5 |
0.5 |
hCV277457 |
CCCCGCACCAGAACCACCTTGATTGCAGCAGAAGTGCAGG[C/G]AGTGGGTGACGCAGGGGGCTAAGCTCCCCCAAAGCGGGTT |
C |
C |
C__16193292_10 |
rs2306266 |
|
MYB
binding protein (P160) 1a |
MYBBP1A |
Intron |
17 |
4655346 |
0.09 |
0.38 |
0.49 |
0.5 |
hCV16193292 |
|
#N/A |
#N/A |
C___1893646_10 |
rs3816686 |
|
MYB
binding protein (P160) 1a|hypothetical protein FLJ90165 |
MYBBP1A|FLJ90165 |
Intron |
17 |
4661756 |
0.13 |
0.15 |
0.48 |
0.43 |
hCV1893646 |
GCCATTACGGGGAGCACGTGTGCACTGCTAAGGTGGGTAA[C/T]GCCCGTGCAGCTCGACACTGCCAGAAAGGCTAGACGTGGA |
G |
A |
C____926671_10 |
rs748694 |
|
arachidonate
15-lipoxygenase |
ALOX15 |
|
17 |
4756779 |
|
|
0.3 |
0.39 |
hCV926671 |
TTGTTCGTTGTCCAAGCCTGTCGCTTTGACTGCAGCCAAT[G/A]TGTCACTTATTGACTGGCCCTCTCCTGTCCCTGCTCAGCT |
C |
C |
C__11954724_10 |
rs1973555 |
|
arrestin,
beta 2|proline-, glutamic acid-, leucine-rich protein 1 |
ARRB2|PELP1 |
Intron |
17 |
4812477 |
0.29 |
0.49 |
0.2 |
0.17 |
hCV11954724 |
GTTTGTCTTTAACATTACTCTGCATAATTGAGGGTGACAA[A/G]ACTATATCTCTGCTATCTCAGCCCAATATCAGAGGCTGGA |
T |
T |
C__11954713_10 |
rs2036657 |
|
arrestin,
beta 2 |
ARRB2 |
|
17 |
4831749 |
0.3 |
0.46 |
0.22 |
0.13 |
hCV11954713 |
AGATGGCTCGAGCAGCCATAAGGAGCAGTGGAAATGAACG[C/T]GACTCGGTCACAACAGGTCACAGGTGGTCATGTGCGTCGG |
G |
G |
C___8718196_1_ |
rs8123 |
IMS-JST027905 |
chemokine
(C-X-C motif) ligand 16|zinc finger, MYND domain containing 15|hypothetical
protein DKFZp434N127 |
CXCL16|ZMYND15|DKFZp434N127 |
|
17 |
4843155 |
0.18 |
0.17 |
0.42 |
0.27 |
hCV8718196 |
TCCTAGGGTACTTTGACCAGCAGGGTATGTTGGTGCTCAT[C/A]CTCCCCACCCTACATGTTCCCAGGTTCTGTCCCATGGCAC |
G |
G |
C___1556051_1_ |
|
|
chemokine
(C-X-C motif) ligand 16|zinc finger, MYND domain containing 15|hypothetical
protein DKFZp434N127 |
CXCL16|ZMYND15|DKFZp434N127 |
UTR
3 |
17 |
4844476 |
0.33 |
0.08 |
0.44 |
0.45 |
hCV1556051 |
CTGTGGCACCTGACTCTAATACCTGAGCCAAGAATGGAAG[C/T]TTGTGAGGGTAAACTGTGGCTTATTCTTACAAAAAGTGTA |
A |
G |
C__12116666_10 |
|
|
zinc
finger, MYND domain containing 15|hypothetical protein DKFZp434N127 |
ZMYND15|DKFZp434N127 |
|
17 |
4860794 |
0.01 |
0.14 |
0.26 |
0.18 |
hCV12116666 |
CCCCTGAGAAATGGGGGGATCCCTGCCCCCCGTGTGACAC[C/T]GATTCCGGGGATTTAGGTGCTGTGCTGTGGTGTTTGTGCC |
G |
G |
C__12116708_10 |
|
|
transmembrane
4 superfamily member 5 |
TM4SF5 |
|
17 |
4877562 |
0.42 |
0.24 |
0.11 |
0.19 |
hCV12116708 |
TCAACCTGAAGACTGAAAGAAACAGAATCCTCTGGAGGAA[G/C]ATTTACTATAGGATTTGGAAGAGATTTCCAGGAAGATTTT |
C |
C |
C___1556092_10 |
rs746988 |
|
transmembrane
4 superfamily member 5 |
TM4SF5 |
Intron |
17 |
4883304 |
0.19 |
0.35 |
0.43 |
0.29 |
hCV1556092 |
TGAAGATATTAAACGAGGTTGACCATCCCAAAGTTTCCCT[A/G]AATGGGTGGAGAGTTGGAAGATGGGGGTTAGTAAATTGGG |
C |
C |
C___8730041_1_ |
rs3851 |
IMS-JST058657 |
secretory
protein LOC284013|transmembrane 4 superfamily member 5 |
LOC284013|TM4SF5 |
Silent
Mutation |
17 |
4893002 |
0.43 |
0.33 |
0.49 |
0.37 |
hCV8730041 |
GAGCAGGTGTAACCCGGCGGTCAGTGGAGCCTCAGTGAGG[G/T]GTGTCCTGCGGAAAAGAGAAGGTGAGAACGCAGCCAGGAC |
A |
C |
C__11954832_10 |
|
|
phospholipase
D2|proteasome (prosome, macropain) subunit, beta type, 6 |
PLD2|PSMB6 |
Silent
Mutation |
17 |
4908201 |
0.02 |
0.06 |
0.06 |
0.19 |
hCV11954832 |
CAGTGAATTGCAGACACTCTTCCTTGGTCATGCCTTCCCG[G/A]TAGGTAGCATCAACATAGCCATAGATGTAGGAGCTCCCGG |
T |
T |
C___1217387_1_ |
rs2302325 |
IMS-JST058654 |
phospholipase
D2 |
PLD2 |
Intron |
17 |
4926938 |
0.32 |
0.36 |
0.39 |
0.49 |
hCV1217387 |
GCAGGGAGAAAGAGCCTGCCAGAGGGAGGGCTGTACCACC[G/C]TTGACCCCTCTCATCCCACTCTCAGTACCAGCCCCAGCTT |
G |
G |
C__25614193_10 |
rs3764900 |
|
phospholipase
D2 |
PLD2 |
Intron |
17 |
4928940 |
0.21 |
0.43 |
0.34 |
0.43 |
hCV25614193 |
|
#N/A |
#N/A |
C___1217368_10 |
|
|
misshapen/NIK-related
kinase |
MINK |
|
17 |
4948621 |
0.38 |
0.33 |
0.07 |
0.05 |
hCV1217368 |
ACATCCTTTCCATAGAATCTGGAACCTGATTCTCAATACA[C/T]AGACTGCCAATGCTTGGCGACTGACTGGTGGAGGACAGGG |
G |
G |
C___1217363_10 |
|
|
misshapen/NIK-related
kinase |
MINK |
|
17 |
4956330 |
0.17 |
0.38 |
0.05 |
0.1 |
hCV1217363 |
GGATAACACCTAAGGATGTTAGTGTCTCTAGGAGTCATCA[A/G]TTGGAACATTCCTTCATTCAAACTTTGAACATTAGGGTGG |
C |
C |
C___1217358_10 |
|
|
misshapen/NIK-related
kinase |
MINK |
|
17 |
4963624 |
0.21 |
0.42 |
0.09 |
0.19 |
hCV1217358 |
CTGGACTCAGCCTGGAGGTCTTCACAGATGGAGGCCTATA[A/G]GAGGTGGCAGCTGACACCTGGAGGGAGCTGGATGAAAGCA |
C |
C |
C___1217356_10 |
|
|
misshapen/NIK-related
kinase |
MINK |
|
17 |
4963887 |
0.13 |
0.3 |
0.06 |
0.1 |
hCV1217356 |
ATGCCAGAGGGATGTGTGAGACACACGCATGCACACACAC[G/A]CTGACTTGCAGGTACATGCAGAGGCAGAAACAAGTCAGGA |
C |
C |
C___1217349_10 |
|
|
misshapen/NIK-related
kinase |
MINK |
|
17 |
4972483 |
0.21 |
0.22 |
0.26 |
0.27 |
hCV1217349 |
TCCCCCGCTGTTACCATTAACCCAGAACCACCCTATGGTT[C/T]CAGTTCCAAGGAACTGTCTGGGCTGCCATTCAGGTGCCTA |
G |
G |
C__15757465_10 |
rs2302321 |
|
misshapen/NIK-related
kinase |
MINK |
|
17 |
4988428 |
|
|
0.04 |
0.08 |
hCV15757465 |
GGGAGGATCTTTGCTCATGGAGAAACTCCAGCCAGGGTAG[C/T]GGAGGAGAAGACAAGGGGAGGGGCCTTGAGCTCACCCTGA |
A |
A |
C__15757464_10 |
rs2302319 |
|
cholinergic
receptor, nicotinic, epsilon polypeptide|misshapen/NIK-related kinase |
CHRNE|MINK |
|
17 |
4997922 |
|
|
0.46 |
0.45 |
hCV15757464 |
|
#N/A |
#N/A |
C___1217318_10 |
|
|
cholinergic
receptor, nicotinic, epsilon polypeptide|misshapen/NIK-related kinase |
CHRNE|MINK |
|
17 |
5008615 |
0.11 |
0.34 |
0.07 |
0.13 |
hCV1217318 |
CCCGAAAGTGTTTTGTGAAGGGTAAAATAAACACAGGTGT[G/A]CGAGATCAATAGAGTTGATTGATAAGTCTCATGCATTATT |
C |
C |
C___2269187_10 |
|
|
DKFZP566H073
protein|glycoprotein Ib (platelet), alpha polypeptide|solute carrier family
25 (mitochondrial carrier; oxoglutarate carrier), member 11 |
DKFZP566H073|GP1BA|SLC25A11 |
UTR
5 |
17 |
5036516 |
0.07 |
0.21 |
0.19 |
0.28 |
hCV2269187 |
GCTTGGCAGCAGGAGCAGCAAGAGGAGGAGAGGCATGAGG[A/G]CCTGTGGGCAAGGGAGCCTTGAGTGGATCCCCCTGCATCC |
C |
C |
C___7950563_10 |
rs238247 |
|
DKFZP566H073
protein|enolase 3, (beta, muscle)|glycoprotein Ib (platelet), alpha
polypeptide|profilin 1|solute carrier family 25 (mitochondrial carrier;
oxoglutarate carrier), member 11 |
DKFZP566H073|ENO3|GP1BA|PFN1|SLC25A11 |
Intron |
17 |
5046354 |
0.46 |
0.44 |
0.18 |
0.07 |
hCV7950563 |
CTTTTTTTTACCCTCAGCTGCCCAGCTCCCCTTCCTCATT[C/T]AGCAACCTTGAGGTCAAAGTTGCAGTCGAATCTTCGAAGC |
A |
A |
C___2575699_10 |
|
|
enolase
3, (beta, muscle)|profilin 1|sperm associated antigen 7|calmodulin binding
transcription activator 2 |
ENO3|PFN1|SPAG7|CAMTA2 |
|
17 |
5061198 |
|
|
0.14 |
0.22 |
hCV2575699 |
CATTGGCAACTCTGCAGCTTCATTTTACCATATAGCATCT[G/A]CTTCCCCTACCTCCTTTGGAAATGTGAACACCTCTGTTGT |
T |
T |
C___2269201_10 |
rs238224 |
|
enolase
3, (beta, muscle)|sperm associated antigen 7|calmodulin binding transcription
activator 2 |
ENO3|SPAG7|CAMTA2 |
Intron |
17 |
5063974 |
0.21 |
0.14 |
0.43 |
0.44 |
hCV2269201 |
AACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCT[C/T]CAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACC |
G |
G |
C___2575726_10 |
|
|
kinesin
family member 1C |
KIF1C |
|
17 |
5103523 |
0.27 |
0.08 |
0.5 |
0.46 |
hCV2575726 |
TCCAAGGGCAGGGACGGTGATATTTTTATTCCTTGTCACT[T/C]GCAAATGTACTGAACGTTCAGATAGAGGACAGAGAGAGAA |
A |
A |
C___2269216_10 |
rs376713 |
|
kinesin
family member 1C |
KIF1C |
|
17 |
5117967 |
|
|
0.18 |
0.22 |
hCV2269216 |
CCCCATGACTTCATAATACCAGCCCAAGGAGCCACATGCC[T/C]TTAGCTGCCCAGCCCTCAACCGCACAGACCAGGCCGTGTT |
A |
A |
C____751678_10 |
rs346818 |
|
kinesin
family member 1C|putative G-protein coupled receptor GPCR42 |
KIF1C|FLJ10060 |
|
17 |
5133406 |
|
|
0.18 |
0.07 |
hCV751678 |
TGAAGGAAGAAGATGATGGTGCAAGCGTTGTCTGTGACTT[A/G]TCAGGAGTGGCAACCTTTGGGCATGATGAGTGAAACCTAT |
T |
T |
C___8730576_10 |
rs3893993 |
|
zinc
finger protein 232 |
ZNF232 |
Intron |
17 |
5223204 |
0.49 |
0.16 |
0.06 |
0.03 |
hCV8730576 |
CACCTATTCAAAGCTTTTATAGGTAGCAGAAGCTAATGTA[G/C]TAATGTCCAATTTGTAAACCTGAATTCCACAAAATAAAAC |
G |
G |
C___3201360_10 |
rs2641232 |
|
ubiquitin
specific protease 6 (Tre-2 oncogene)|TL132 protein |
USP6|LOC220594 |
|
17 |
5288167 |
0.35 |
0.28 |
0.21 |
0.08 |
hCV3201360 |
GACTGCCCAGTATAATGAAGAGATGATATTTGTATTTTAG[C/G]AATTATAGAATGATCTACTTATCATTTCAGATTCTGAAGA |
G |
G |
C__12124104_1_ |
rs3031 |
|
|
|
|
17 |
5313988 |
|
|
0.13 |
0.05 |
hCV12124104 |
TTGACCATAGAGATTTGAGTTTTCACCTAGGTTTTCTCCC[T/C]GTGCTTGCAAGTTGTACTGTAACAATGGACAAAGGACAAA |
A |
A |
C__16260670_10 |
rs2585297 |
|
|
|
|
17 |
5352949 |
0.02 |
0.11 |
0.12 |
0.1 |
hCV16260670 |
GGAATCCCTGGGACTCCTTTGAGGTAACCTTGTCTTTTCC[G/A]GTTCAGTTCTGGAATGCAAAGGCCTCCCTGGCCTGGAGAA |
T |
T |
C___9276197_10 |
|
|
rabaptin,
RAB GTPase binding effector protein 1|rabaptin-5 |
RABEP1|RAB5EP |
Intron |
17 |
5436376 |
0.26 |
0.48 |
0.49 |
0.45 |
hCV9276197 |
GGGCACAGGGAATGTGCTGGAGTAGAGAGAGCTGCCATGC[C/A]AAGGGTAAAGTAACTGTTTACATTGATGAGCTTCAGCTAA |
C |
C |
C__11951964_10 |
rs2987 |
|
rabaptin,
RAB GTPase binding effector protein 1|rabaptin-5 |
RABEP1|RAB5EP |
Intron |
17 |
5444393 |
0.21 |
0.33 |
0.31 |
0.3 |
hCV11951964 |
TGAGGTTACACAGACCCAATTCTGTAACTATGGGTTATTC[G/A]GGTATTTACGCTAAAATGATAGTTAAAATGCTTGGACATG |
G |
G |
C___2561301_10 |
rs8703 |
|
nucleoporin
88kDa|rabaptin, RAB GTPase binding effector protein 1|rabaptin-5 |
NUP88|RABEP1|RAB5EP |
UTR
3 |
17 |
5487257 |
0.45 |
0.34 |
0.37 |
0.42 |
hCV2561301 |
AGTGTTCGCATTTGAAGGTCTCTGGGCTGCAGATCACCCC[G/A]CTGTTTGCTGTTTCCTGTGCCGCACAGTCTTCTCCCTCTA |
T |
C |
C___2264493_1_ |
rs739768 |
IMS-JST057901 |
nucleoporin
88kDa|rabaptin, RAB GTPase binding effector protein 1|rabaptin-5 |
NUP88|RABEP1|RAB5EP |
Intron |
17 |
5491268 |
0.38 |
0.48 |
0.17 |
0.1 |
hCV2264493 |
GAGGAAGCTAAAGAAAAACAAGAGGATATCATGAACAGGT[C/T]AGTGGGCTGTATAACATTTAGTTACCTAGTCAGGTACTAA |
G |
G |
C___8718878_10 |
rs886361 |
|
nucleoporin
88kDa|rabaptin, RAB GTPase binding effector protein 1|rabaptin-5 |
NUP88|RABEP1|RAB5EP |
Intron |
17 |
5493327 |
0.39 |
0.47 |
0.17 |
0.1 |
hCV8718878 |
AGAATTGTTGCCTTCAGAGTAAGTCACTTGCCATGCTGCC[A/G]AAGTCTGTGAGATCTTTTAAGCTCTTTTTGAAGTTTGAGT |
C |
C |
C__11443225_20 |
rs14231 |
|
nucleoporin
88kDa|rabaptin, RAB GTPase binding effector protein 1|rabaptin-5 |
NUP88|RABEP1|RAB5EP |
Silent
Mutation |
17 |
5495541 |
|
|
0.05 |
0.11 |
hCV11443225 |
GCTTTGTAATTTAACTATGACTGTGTTTTTCCAGGCAGCC[T/A]GCTCCAATTCGAGGATTTTGGATTGTACCTGACATTCTGG |
A |
A |
C__16204034_10 |
rs2285748 |
|
nucleoporin
88kDa|rabaptin, RAB GTPase binding effector protein 1|rabaptin-5 |
NUP88|RABEP1|RAB5EP |
Intron |
17 |
5495566 |
0.19 |
0.14 |
0.39 |
0.44 |
hCV16204034 |
|
#N/A |
#N/A |
C___2561314_10 |
|
|
nucleoporin
88kDa|rabaptin, RAB GTPase binding effector protein 1|rabaptin-5 |
NUP88|RABEP1|RAB5EP |
Intron |
17 |
5496093 |
0.39 |
0.48 |
0.17 |
0.1 |
hCV2561314 |
AGGCGGCATCCACATTCGGGGGCAGATGTGTGTTGTAGGC[A/G]TGCAGGTGGGATGGGCATGGGAGCCGCTAGGAGAGCATGT |
T |
T |
C___2561324_10 |
rs1806246 |
|
nucleoporin
88kDa |
NUP88 |
Intron |
17 |
5510276 |
0.29 |
0.23 |
0.4 |
0.44 |
hCV2561324 |
AAGACTGTGTACTTCATAAGCCAGTCCTGGATGTCTGTCT[G/A]GCTATTTTGCCGTTGCCTTCCACCTTGTACTTTGCCTCCC |
T |
T |
C____460813_10 |
rs980408 |
|
DEAH
(Asp-Glu-Ala-His) box polypeptide 33|complement component 1, q subcomponent
binding protein|hypothetical protein MGC4189 |
DHX33|C1QBP|MGC4189 |
Intron |
17 |
5539555 |
|
|
0.23 |
0.26 |
hCV460813 |
TGCATAGCCCAGCAGTTTTGGTTCTAAACCTTATGTCCCA[G/A]GAATTTTGACTCAAACTTTGGAACATGATTTGTCAGGTGT |
T |
T |
C__11443214_1_ |
rs1805429 |
IMS-JST001282 |
DEAH
(Asp-Glu-Ala-His) box polypeptide 33|complement component 1, q subcomponent
binding protein|hypothetical protein MGC4189 |
DHX33|C1QBP|MGC4189 |
Intron |
17 |
5542439 |
0.05 |
0.1 |
0.2 |
0.24 |
hCV11443214 |
TGGACCTTTGGGAAGGCCCATGGTCGTGGTTGAAAATAGC[A/G]TAGTTATATCGTTTGGCAAGTGGAAGAGGATTGGAAATTC |
C |
C |
C__11678708_1_ |
rs2074438 |
IMS-JST001281 |
DEAH
(Asp-Glu-Ala-His) box polypeptide 33|complement component 1, q subcomponent
binding protein |
DHX33|C1QBP |
Silent
Mutation |
17 |
5548141 |
0.13 |
0.07 |
0.31 |
0.33 |
hCV11678708 |
ACATGCGGGACCTCTGCGTCATAGATGCACAGTGGCTGTA[C/T]GAGGCTGCCCCTGAGTACTTTAGGAGGAAGCTGAGAACCG |
G |
G |
C___2991706_10 |
rs3026155 |
|
homolog
of yeast Mis12|carcinoma related gene|CGI-101 protein |
MIS12|F-LANa|F-LAN-1 |
Intron |
17 |
5587452 |
0.05 |
0.08 |
0.19 |
0.2 |
hCV2991706 |
TGTGGATCACAAGAGATAGTAGACATTTTAAAACGTTAAG[T/C]ACTCTACAATTGAGAGTGGTTACTGTGGGTGTGGAGATGT |
A |
A |
C___2991709_1_ |
rs1805462 |
IMS-JST011468 |
homolog
of yeast Mis12|carcinoma related gene|CGI-101 protein |
MIS12|F-LANa|F-LAN-1 |
|
17 |
5590693 |
0.24 |
0.35 |
0.37 |
0.35 |
hCV2991709 |
CGGCTTCCGTCGGGCCCCGCGCCCGCGCTGCATGCTGGGA[C/T]CTTCAGGTCGGAGGCCGGGGTGAGGCCGACCCACAGGCCG |
G |
G |
C___8718919_1_ |
|
|
NACHT,
leucine rich repeat and PYD containing 1|hypothetical protein PP1044 |
NALP1|DEFCAP |
|
17 |
5604827 |
0.17 |
0.38 |
0.1 |
0.23 |
hCV8718919 |
TGACCCACCTACCCGCGATCCTGCCCATGGCTGACGGGCT[C/G]TTTCGGCGCAGACCCTGGGGTCTCGAGCAGATTCGCCCGG |
C |
C |
C___1274432_10 |
rs2175827 |
|
NACHT,
leucine rich repeat and PYD containing 1|hypothetical protein PP1044 |
NALP1|DEFCAP |
Intron |
17 |
5651807 |
0.49 |
0.47 |
0.23 |
0.41 |
hCV1274432 |
CCAATGAAGGATCATGGAATCTAACCTACATTCCAAGGAA[A/G]TTGAAGAAAAGAAAGTGATAAGAGATTGAAAGAAAGGAGA |
T |
T |
C___1600651_10 |
rs961826 |
|
NACHT,
leucine rich repeat and PYD containing 1|hypothetical protein PP1044 |
NALP1|DEFCAP |
Intron |
17 |
5684502 |
0.48 |
0.42 |
0.19 |
0.12 |
hCV1600651 |
TTAAAAGTGAAAAAAACAAGTATGAAAACCACAAAGACTA[A/C]CTCATTGCTATAAATAAAGTTTCCATCAATTGTGGGCATT |
T |
T |
C___2653154_10 |
|
|
|
|
|
17 |
5834242 |
0.08 |
0.09 |
0.1 |
0.05 |
hCV2653154 |
GGGCATCCTTCCAGGGATCCACTTTGTGAACAAAGAGGGA[A/G]CAGAACCAGTAGCCTTCGTTGTCCTTGGGATAGAAATGCA |
C |
C |
C____434351_10 |
|
|
|
|
|
17 |
5884631 |
0.47 |
0.18 |
0.3 |
0.2 |
hCV434351 |
ACTCCACCACCGCGGCTTACTTCTATATCTCTAAAGCCAC[C/T]CTACCTTGCCTTTCTCCTCACGTCTGGATCCAATCTGACA |
A |
A |
C___2653104_10 |
|
|
|
|
|
17 |
5893283 |
0.4 |
0.13 |
0.08 |
0.14 |
hCV2653104 |
GAGGGGGCATCACTAGGCAAGGGGACAAGCAAAGTCATTC[G/A]GCAATTTTTGTAAAGCGCAGCTCTGGAGGACTTCCCATCC |
T |
T |
C____329755_10 |
|
|
|
|
|
17 |
5894859 |
0.39 |
0.13 |
0.08 |
0.12 |
hCV329755 |
GACCCCATGAGGACACAGAATCCAACAGGGATGATGCAAA[G/A]GAAGAAACTCAAATTAAGGAACTCCTCTCAGTGTTGCGGC |
T |
T |
C___1386800_10 |
rs888329 |
|
|
|
|
17 |
5930303 |
0.22 |
0.44 |
0.44 |
0.44 |
hCV1386800 |
AAAGGAGAACCCATTTCACCTCCTGACAGATTTCAACCCA[C/G]TATGTCAGTGACTCCTAAGTCAGAATGTCACTCACTCGAT |
C |
C |
C___1386664_10 |
rs888328 |
|
|
|
|
17 |
5979130 |
0.34 |
0.26 |
0.46 |
0.49 |
hCV1386664 |
CAGGAGAGAGGGCCCTAACTGACAACAGAACCCAAACTCA[G/A]CAATCAGAGGCGAATCAGGAGGTGGGATAACCGAGGCGGA |
C |
T |
C___3199868_10 |
|
|
|
|
|
17 |
6172293 |
0.27 |
0.23 |
0.37 |
0.4 |
hCV3199868 |
AAGTCTATAGATGCCTTCATGTGCCCATTTGACAGATGAG[G/A]CTTTCAGGTGGGTGATCACAAAAGGCTCACAGCCAGTTGA |
C |
T |
C__11678090_10 |
|
|
|
|
|
17 |
6178979 |
|
|
0.31 |
0.47 |
hCV11678090 |
ATAGGGCCCAGAACGTTGCTCTCTAGACAAGGTGATGGGC[A/T]TCTGGGTCCTAGAAGCTCGAAGCCTCAGCCTCAGTGACTG |
A |
T |
C__12113399_20 |
rs2302836 |
|
|
|
|
17 |
6191909 |
|
|
0.23 |
0.09 |
hCV12113399 |
TTCTCAAGTCATAAAACACAGCTCCTTTCAGAGTCCTCTC[G/A]TGGCCATCGTCACTGAAGCATCCAATGTAGGTGCCTGCAG |
C |
C |
C___2036741_10 |
rs4261594 |
|
|
|
|
17 |
6234964 |
0.4 |
0.35 |
0.19 |
0.37 |
hCV2036741 |
TGATGTAGGCAGAAGGCCAGTCAGCCTACAGGCCTGGAAA[C/G]ACTTTGCTGAGTATGCTGAAGTCTGCAATGTAGTATGTGC |
C |
C |
C____149230_10 |
rs907946 |
|
aryl
hydrocarbon receptor interacting protein-like 1 |
AIPL1 |
|
17 |
6521084 |
|
|
0.48 |
0.49 |
hCV149230 |
GGCCTAATTACAATTGCTCCATTACTTCAGGTATCCTCAT[C/T]AGTGCGAGAATCTGATGAACAAAGAATCTCGCCTTTCCTC |
A |
G |
C____452311_10 |
|
|
aryl
hydrocarbon receptor interacting protein-like 1 |
AIPL1 |
|
17 |
6526431 |
0.07 |
0.11 |
0.07 |
0.15 |
hCV452311 |
GAAAAAGGGGATAGGGACCAGGAAGCCCATAGCATGTGGT[G/A]GAGATACCCTGGAGAGAGGGTGCACAGGGACCCTTGTCCT |
T |
T |
C___1573792_1_ |
rs2280111 |
IMS-JST028168 |
PITPNM
family member 3|hypothetical protein FLJ10156|KIAA0753 gene product |
PITPNM3|FLJ10156|KIAA0753 |
Intron |
17 |
6550542 |
0.18 |
0.33 |
0.18 |
0.16 |
hCV1573792 |
GACCGTGACACTCAACTGCTCAAAACTCTTCTGTGGCTTC[T/C]TGTTGCCCATAGGACCAAGCCCCAACTCTTGGGCCTTTCA |
G |
G |
C___1573791_1_ |
rs2280110 |
IMS-JST028167 |
PITPNM
family member 3|hypothetical protein FLJ10156|KIAA0753 gene product |
PITPNM3|FLJ10156|KIAA0753 |
Intron |
17 |
6550579 |
0.16 |
0.29 |
0.19 |
0.15 |
hCV1573791 |
ACAGTGGTCCATAGTGATCCTTCTAAAGGGCAGTTCTGAC[C/T]GTGACACTCAACTGCTCAAAACTCTTCTGTGGCTTCTTGT |
A |
A |
C____513371_10 |
rs12746 |
|
PITPNM
family member 3|hypothetical protein FLJ10156|KIAA0753 gene product |
PITPNM3|FLJ10156|KIAA0753 |
UTR
3 |
17 |
6554896 |
|
|
0.31 |
0.2 |
hCV513371 |
TCTTTATTATGAGAAAGCAGTGTTATCTAGGAAAGTCACA[C/T]GCTGGTTTCTTTCTAATAAAATGACAAAGCAGGTTTCTTA |
G |
G |
C____247666_10 |
rs907941 |
|
PITPNM
family member 3|hypothetical protein FLJ10156|KIAA0753 gene product |
PITPNM3|FLJ10156|KIAA0753 |
Intron |
17 |
6562952 |
0.42 |
0.42 |
0.27 |
0.29 |
hCV247666 |
CAACTGGCCTTTGGCTCAGAGGATGGAGCAGCCCCTCTTC[A/G]TCTGGCCCTTCCACCTTCTCATTCACCTGAGCTCACTCCT |
A |
A |
C____267133_1_ |
rs2280112 |
IMS-JST028169 |
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
Intron |
17 |
6566356 |
0.49 |
0.25 |
0.17 |
0.19 |
hCV267133 |
GAACAAACCCTTGGCTCTTCTGCTGCACAGCACTCCCCTA[C/G]ACAGCCCCTACGGCACCATCTCCTGATATTCCCATCTTCC |
C |
C |
C____492691_10 |
|
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
Intron |
17 |
6584333 |
0.16 |
0.13 |
0.06 |
0.01 |
hCV492691 |
ACTTTGGCCCTCCCCGCACTGAGCCCTCCTCAGAGCCACA[A/G]TTGGCTGAGAACATCGGCTCCCATTCTCCTGGGGAATTCG |
G |
G |
C__12113069_10 |
|
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
Intron |
17 |
6593008 |
0.24 |
0.13 |
0.22 |
0.22 |
hCV12113069 |
GAGAGGTACAAATCGTGATCATCCCCTCTAATTACCAATG[C/T]GCCACACTGCTCTTGAGACGAAAGCCAAGGTCATCACCCA |
T |
T |
C_____23613_10 |
rs3809836 |
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
Intron |
17 |
6607296 |
0.33 |
0.4 |
0.32 |
0.41 |
hCV23613 |
|
#N/A |
#N/A |
C___7947671_10 |
rs3809834 |
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
Intron |
17 |
6629185 |
0.29 |
0.1 |
0.36 |
0.3 |
hCV7947671 |
|
#N/A |
#N/A |
C__12118329_10 |
|
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
Intron |
17 |
6633540 |
0.33 |
0.3 |
0.34 |
0.33 |
hCV12118329 |
TGGTACTGGATGGGCCATCTGCAGAATGTGACCAAGCCCT[C/T]GGCTCCATGAGCTGGAGGTGAAGCTTTCCTGGCATGAGAC |
A |
A |
C___8726397_10 |
rs165106 |
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
Intron |
17 |
6641729 |
0.38 |
0.2 |
0.41 |
0.27 |
hCV8726397 |
GTATCTGCAGCTCCACACTCCATACTTACCCATCCTGTGG[G/A]TGTGCCAAGAGCAGGGGCTCAGCCTTCGTCTGTTCACTGT |
T |
T |
C__12118354_10 |
rs356045 |
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
Intron |
17 |
6652502 |
0.44 |
0.47 |
0.5 |
0.37 |
hCV12118354 |
AGAGTCTGTCTTTCAGAGAGTCTGAGTGTCTGTGGCTGCC[C/T]GTCACTCATGCACCATTGACCTTTTCTGATTGTTCTGGGT |
A |
G |
C___8726439_10 |
rs356036 |
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
|
17 |
6662666 |
0.42 |
0.12 |
0.35 |
0.17 |
hCV8726439 |
CTCCCCTTAACCGCTCCACCCAGGCCCTTCTGGGTGACTA[G/A]TTTAGGGTTTGTGAGGACTAAGTGGTGGGAGGGGAAGGGG |
T |
T |
C___7947736_10 |
|
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
|
17 |
6664277 |
0.47 |
0.4 |
0.5 |
0.36 |
hCV7947736 |
GCAAGGAGGAGACGGTGACAAGAAACCAGCTACTCTCAGA[G/A]CAATTCTGTAAGACTCCAAGGAAGAGCAACTGTGTCTGGG |
C |
T |
C___9276818_10 |
|
|
PITPNM
family member 3|KIAA0753 gene product |
PITPNM3|KIAA0753 |
|
17 |
6668634 |
0.43 |
0.49 |
0.28 |
0.19 |
hCV9276818 |
ATCTGTATGTATGCATGAGTGTTACATACTCGTATGTATG[G/T]ATTTCAAACATTACGGAATGTCACCATGGGGACAGCATAT |
T |
T |
C___9276856_10 |
|
|
KIAA0753
gene product|PITPNM family member 3 |
KIAA0753|PITPNM3 |
|
17 |
6677255 |
0.33 |
0.19 |
0.38 |
0.28 |
hCV9276856 |
GGGAGCAGCACTGCAGTATGCTGGGAAGAATATCAAATCC[G/A]TAACGAGACCCGGTGACAACCACTTTCCAGATGGGAAAAT |
G |
G |
C___9276889_1_ |
rs3744720 |
|
KIAA0753
gene product|PITPNM family member 3 |
KIAA0753|PITPNM3 |
UTR
3 |
17 |
6683611 |
0.45 |
0.31 |
0.28 |
0.19 |
hCV9276889 |
AACAAAGGGTGGTGCCATCCCTTCTCCAGTGTGACACAAA[C/T]GGCCTCGCCTCAGAGAGCCTTTATGTAGCAGCCTCTAAGA |
T |
T |
C___8726449_1_ |
rs367918 |
|
KIAA0753
gene product|PITPNM family member 3 |
KIAA0753|PITPNM3 |
Intron |
17 |
6693621 |
|
|
0.16 |
0.13 |
hCV8726449 |
CAGTAAAATGTTACGGTCCTCTGTTTAGGAACCAAATTGC[G/A]AAATTTTAGACTTAGAAAAAGCTGGAGAAAGCATTAGCCA |
T |
T |
C___7947751_1_ |
rs2289639 |
IMS-JST041298 |
KIAA0753
gene product|PITPNM family member 3 |
KIAA0753|PITPNM3 |
Intron |
17 |
6694739 |
0.44 |
0.31 |
0.28 |
0.19 |
hCV7947751 |
GGGCTTTTCATAGACCTCCTTAAGAAACCTTCCTCAGAGC[G/A]AGTTCATTATTTCTTAAAACGTATTCCTCATTGGTTTCTT |
T |
T |
C___7947965_1_ |
rs2289642 |
IMS-JST041301 |
KIAA0753
gene product|PITPNM family member 3 |
KIAA0753|PITPNM3 |
Mis-sense
Mutation |
17 |
6715952 |
0.44 |
0.35 |
0.28 |
0.2 |
hCV7947965 |
TTGCAGAGTGAGCTTGATGTATTAGATGCGGATATAGTTC[C/T]GGAAGAAGGACCATTTATTCTAGACCAAAGTGCAAGCTTC |
A |
A |
C___7947972_10 |
rs2034090 |
|
KIAA0753
gene product|PITPNM family member 3 |
KIAA0753|PITPNM3 |
Intron |
17 |
6719731 |
0.31 |
0.2 |
0.36 |
0.31 |
hCV7947972 |
AGTTGGCTGGTGCAGTTTTTTTGCAGCTTCTGAACTGTTC[T/C]TAAATTGGTTGATTGCATTAGTGTAACTTGTCAGCAATGA |
G |
G |
C___7947976_10 |
|
|
KIAA0753
gene product|PITPNM family member 3 |
KIAA0753|PITPNM3 |
Intron |
17 |
6720276 |
0.33 |
0.19 |
0.36 |
0.29 |
hCV7947976 |
AAGGTGGCATTTTTAGTTCTTAATAATAGCACCAAGTTAT[G/T]AAGAAAAGGCTAGATTGTGTTAGGCATATTCTAACTAAGA |
C |
C |
C___7947977_10 |
rs749096 |
|
KIAA0753
gene product|PITPNM family member 3 |
KIAA0753|PITPNM3 |
Intron |
17 |
6720889 |
0.23 |
0.23 |
0.37 |
0.49 |
hCV7947977 |
GAGGTGCCCATCAGCTGACTAGTGAAAAATGGACACCAGT[T/G]TCAGAGAGAAGCTGGAAAACCTGCTAACCTAAAACTCATT |
A |
C |
C____349157_1_ |
rs2285997 |
IMS-JST036391 |
CGI-125
protein|KIAA0753 gene product|PITPNM family member 3|thioredoxin
(Trx)-related protein, 14 kDa|hypothetical protein MGC14353 |
CGI-125|KIAA0753|PITPNM3|TRP14|MGC14353 |
Intron |
17 |
6745502 |
0.32 |
0.18 |
0.35 |
0.29 |
hCV349157 |
CACTCAGACTTTAACCTGCAGCTAACTGAAGAGGTCAACA[C/G]AAGTCAGGTGTTCCCTTCTGGTCTTAGAGCCACGTTAAGG |
G |
G |
C___2564242_1_ |
rs2240276 |
IMS-JST011774 |
CGI-125
protein|KIAA0753 gene product|PITPNM family member 3|thioredoxin
(Trx)-related protein, 14 kDa|hypothetical protein MGC14353 |
CGI-125|KIAA0753|PITPNM3|TRP14|MGC14353 |
|
17 |
6747486 |
0.33 |
0.1 |
0.36 |
0.28 |
hCV2564242 |
AGAGTCAGTGTGACTGACTCCCAGCTTGGAGTTCTTCCCA[G/C]AACTGGGTTATAGAGTCTTTCCGGCCGCTCTCCGCCACCT |
C |
C |
C___2564255_10 |
|
|
CGI-125
protein|KIAA0753 gene product|PITPNM family member 3|thioredoxin
(Trx)-related protein, 14 kDa|hypothetical protein MGC14353 |
CGI-125|KIAA0753|PITPNM3|TRP14|MGC14353 |
Intron |
17 |
6752185 |
0.14 |
0.14 |
0.37 |
0.28 |
hCV2564255 |
AACTACCCTCTGCCATTGTGCCATGGTGTCCAGAGTTCTC[A/G]TGAGTTGAGGTTCCCTCCTTTGGATATTTGGCAGTTGTAC |
T |
T |
C___2564265_10 |
|
|
CGI-125
protein |
CGI-125 |
|
17 |
6758152 |
0.43 |
0.47 |
0.26 |
0.22 |
hCV2564265 |
TTTCTACATAGTGGCCCATGAGTGGTAGGTATTGTGTCTC[G/A]TTTGTGTTGCTGTTTTCTTTGATGATTTCTCTTTACTTTT |
T |
T |
C___2564271_10 |
|
|
CGI-125
protein |
CGI-125 |
|
17 |
6758820 |
0.44 |
0.47 |
0.26 |
0.22 |
hCV2564271 |
CCGCCCCTCCGGGCTTTTCCTCTGTTAGGCAGGTGGCGAT[C/T]CGCTGTCTTTGCCTGTTATGGCCGCTGCCGTCGCCCTGGA |
A |
A |
C___2564282_10 |
|
|
|
|
|
17 |
6772932 |
|
|
0.44 |
0.3 |
hCV2564282 |
AATTTGAGGACAAACAGGAGTTTATCTGACAGAAGGAGCA[A/G]CCGAGGTCAGGGGCACGTGTGAGTTTGCTTCAGCCTTCCC |
C |
C |
C___2564293_10 |
rs650930 |
|
solute
carrier family 13 (sodium-dependent citrate transporter), member
5|sodium-coupled citrate transporter |
SLC13A5|NACT |
|
17 |
6781416 |
0.42 |
0.14 |
0.35 |
0.24 |
hCV2564293 |
ACAGCTGTGGTTTGCTGGGTGCCTGCCTGAGTGCTGAGCT[A/G]TGAGGGAGGCTCAGAATTTTCCCAGGATGGTGAGGCCCAG |
T |
T |
C___2265345_1_ |
rs218689 |
IMS-JST011777 |
solute
carrier family 13 (sodium-dependent citrate transporter), member
5|sodium-coupled citrate transporter |
SLC13A5|NACT |
UTR
3 |
17 |
6789915 |
0.27 |
0.5 |
0.09 |
0.18 |
hCV2265345 |
AATGGGCCACCTCTTCCTCCAAGCCCAGATGCAGAGATGG[A/T]CATGGGCAGCTGGAGGGTAGGCTCAGAAATGAAGGGAACC |
T |
T |
C___2564304_10 |
|
|
solute
carrier family 13 (sodium-dependent citrate transporter), member
5|sodium-coupled citrate transporter |
SLC13A5|NACT |
Intron |
17 |
6796545 |
|
|
0.06 |
0.13 |
hCV2564304 |
CAATATTGTTTGCTACTACTTTTGGTCCTTCTACTGGCTA[C/T]TTAACATGGTAGCTACTTCAAAATTTTTCTTTAGCTAAGT |
A |
A |
C___2564306_1_ |
rs2269922 |
IMS-JST024269 |
solute
carrier family 13 (sodium-dependent citrate transporter), member
5|sodium-coupled citrate transporter |
SLC13A5|NACT |
Intron |
17 |
6801112 |
0.07 |
0.02 |
0.06 |
0.13 |
hCV2564306 |
GAAACCTGAAGCCCCTGGCTGAGCCCCAGGGTCTCTAGGA[C/T]GACAGTTGGCAGCAGAGAGGTGCTTGGTAGAGCACAAACT |
A |
A |
C___2564313_10 |
rs218671 |
|
solute
carrier family 13 (sodium-dependent citrate transporter), member
5|sodium-coupled citrate transporter |
SLC13A5|NACT |
Intron |
17 |
6805273 |
0.48 |
0.48 |
0.22 |
0.22 |
hCV2564313 |
ACAAAGTTGTATTTTTCTGGAGGGATGGGCCATAACTTCC[C/A]TGAGACTCTTAGCAAGGCCTGGACACACAGAAGAGTCAGT |
T |
T |
C___1564432_10 |
rs1983178 |
|
XIAP
associated factor-1 |
HSXIAPAF1 |
|
17 |
6857201 |
|
|
0.5 |
0.39 |
hCV1564432 |
TCAATCGGTGCTGTGGGCTTGTATGATTTCATCATTCTGC[C/T]ACCCGTCTTTGGCTGGTCGCCAACCCCAATCCCATTTAAA |
A |
G |
C___1564411_10 |
|
|
XIAP
associated factor-1 |
HSXIAPAF1 |
Intron |
17 |
6868395 |
0.32 |
0.25 |
0.47 |
0.42 |
hCV1564411 |
ATTGATATATAAATATTCAATAGTGGTACCCCTTTAAAAA[G/C]TTATTGTAAGAAATGTTAGGACAACCTAGAGATGTGAGAC |
C |
C |
C__11684863_10 |
|
|
XIAP
associated factor-1|hypothetical protein MGC35179 |
HSXIAPAF1|MGC35179 |
|
17 |
6879985 |
0.38 |
0.27 |
0.4 |
0.38 |
hCV11684863 |
TCCTGCCCCCGGGTCGCAGAGCCCCAAACCTGCAGTTGCC[G/T]GGTCAGTGGATCCCATGTGCAGAGGGCGAGACGGGGCCCT |
A |
A |
C___8718371_10 |
rs906749 |
|
XIAP
associated factor-1|hypothetical protein MGC35179 |
HSXIAPAF1|MGC35179 |
Intron |
17 |
6882798 |
0.22 |
0.39 |
0.23 |
0.23 |
hCV8718371 |
GGGGACAGAGGAAGGATGGTCAAGAGCAGAGTCCAGGCAT[C/T]GTGGTGGGAATGGGGATGTGTTTGCAAGTTCTTTAGAAGA |
G |
G |
C__11684858_10 |
|
|
hypothetical
protein MGC35179 |
MGC35179 |
UTR
3 |
17 |
6891394 |
0.24 |
0.33 |
0.47 |
0.44 |
hCV11684858 |
AAAAAAAAAAAGTGGAGGGGAGAGAGAGGAGCAAAAGGGC[C/T]GGCAGTGCCCAAGTGTAGTTCTAAGAGAAATGATTTTCAA |
G |
G |
C___1564374_10 |
rs1509121 |
|
hypothetical
protein MGC35179|tektin 1 |
MGC35179|TEKT1 |
|
17 |
6894060 |
0.33 |
0.3 |
0.47 |
0.44 |
hCV1564374 |
TCCTTGAGGTCTGTTTGTGAATAAATGCTACCTGTGAGTG[C/T]CATGTGGTGGATGGTGAGTCTATAACAGTTGCAAATCCTT |
G |
G |
C___1564360_10 |
|
|
tektin
1 |
TEKT1 |
|
17 |
6902181 |
0.09 |
0.01 |
0.07 |
0.05 |
hCV1564360 |
GAATACAGCTCTCAGAGGCAGCCAGCCTCAGTGGTGGATT[C/T]AGATCCCAGGCTCTGCAGGGAGATGTGATTCAGATCAGCT |
A |
A |
C___1564358_1_ |
rs2271233 |
IMS-JST066048 |
tektin
1 |
TEKT1 |
Mis-sense
Mutation |
17 |
6904686 |
0.09 |
0.01 |
0.07 |
0.03 |
hCV1564358 |
GACCAGGACACACCGGCCGAACGTGGAGCTGTGTCGTGAT[A/G]TCGCACAATATAGGCTAATGAAGGAGGTTCAAGAGATCAC |
T |
T |
C__11684804_10 |
rs3817137 |
|
tektin
1 |
TEKT1 |
Intron |
17 |
6905044 |
0.23 |
0.06 |
0.36 |
0.42 |
hCV11684804 |
CTGAGGGCATCTCCTGTGGGTAGATGAGGTGACAATGGCC[C/T]GTCCTGTCCCTTGAGTCCATAAGGTTTTAAGTCTTATGTG |
A |
A |
C___2724177_10 |
rs4796356 |
|
tektin
1 |
TEKT1 |
Intron |
17 |
6922355 |
|
|
0.38 |
0.45 |
hCV2724177 |
ATGCAGAGCCACACGGAAGCACTTTGTAATCCAGACAGCA[G/C]TATAGGAACATAGTGCTTTTTATTATTATTTCCCTCCTAT |
C |
C |
C___2724178_10 |
|
|
tektin
1 |
TEKT1 |
Intron |
17 |
6923422 |
0.09 |
0.01 |
0.07 |
0.05 |
hCV2724178 |
GGTGTAGAATGATAAATCTGATGTGGACTGTAAGAAAATA[C/T]ATCTTCCTTCCTTCCTGCAAATAAACATTTAAAAAGATGA |
G |
G |
C___2724197_10 |
|
|
tektin
1 |
TEKT1 |
|
17 |
6937267 |
0.46 |
0.21 |
0.44 |
0.39 |
hCV2724197 |
TGACTTTTAGTTGTAATTTGGACTCATTGCTTTTTAGTTC[G/T]GTAGCTATTACACCGAGCTTTCTTTTCATCACACAGCTGG |
C |
C |
C___3033996_10 |
|
|
|
|
|
17 |
6996213 |
0.43 |
0.41 |
0.21 |
0.31 |
hCV3033996 |
GAATACGAGCGGTCATGACACTTACTCACGTCATTCACCA[G/A]TAAAACCCTCTATCCTTCCTCCTCAAAATCAGGAATGCTC |
C |
C |
C___3033993_1_ |
rs311758 |
IMS-JST066153 |
|
|
|
17 |
7003205 |
0.49 |
0.37 |
0.48 |
0.41 |
hCV3033993 |
GAATCAGAGATCTCGAAACCAGAACACGAAATAGGTCTCA[C/G]GCAGGGAAAGCTATGTGGAGATACAGAAAAGAACTTTTCT |
G |
C |
C____749105_10 |
rs558503 |
|
|
|
|
17 |
7008762 |
0.14 |
0.15 |
0.09 |
0.03 |
hCV749105 |
TGAGCCATACGGGCATCAGACTTACCCAGAATGGGATCAA[C/T]TCCTCCAGATACCATAAAAGTTGATGTGATATTAAACTGA |
G |
G |
C___1552908_10 |
rs312466 |
|
arachidonate
12-lipoxygenase |
ALOX12 |
|
17 |
7099786 |
0.5 |
0.22 |
0.49 |
0.38 |
hCV1552908 |
CGAGCAGAGCGGTAGAGCCGGCTGTGGGGACTGGCTGTGC[C/T]TCCTGGTCGGAGCGTAGCTGCAGGATGATAAAGGGGCCCG |
A |
A |
C__16195939_10 |
rs2070589 |
|
arachidonate
12-lipoxygenase |
ALOX12 |
Intron |
17 |
7100927 |
|
|
0.48 |
0.38 |
hCV16195939 |
|
#N/A |
#N/A |
C___1552902_1_ |
rs2292350 |
|
arachidonate
12-lipoxygenase |
ALOX12 |
Intron |
17 |
7102237 |
0.4 |
0.14 |
0.4 |
0.47 |
hCV1552902 |
TTTATCTCTGGCTTTGCCTCATTTGATTATCCACCAGACA[T/C]GTTTATCCCATCTTTGCCAACTTTGCACTCCTGCTTTCTC |
A |
A |
C____749042_10 |
|
|
B-cell
CLL/lymphoma 6, member B (zinc finger protein)|solute carrier family 16
(monocarboxylic acid transporters), member 11|hypothetical protein FLJ90193 |
BCL6B|SLC16A11|FLJ90193 |
|
17 |
7138900 |
0.1 |
0.4 |
0.15 |
0.24 |
hCV749042 |
AAAGCAGCAAACAAGAAGTGGAGGCAGGGAGGGAGGTGTG[C/T]AGTCTTAAAAGACATATTGAGCCTTAAATAATTTTATATG |
A |
A |
C__16155980_10 |
rs2920422 |
|
solute
carrier family 16 (monocarboxylic acid transporters), member 11|hypothetical
protein FLJ90193 |
SLC16A11|FLJ90193 |
|
17 |
7152210 |
0.13 |
0.2 |
0.26 |
0.27 |
hCV16155980 |
AGAACTTACCAGGGCAATGTGGTGCCTTGACCTTGAGGCA[C/T]GGGCAGAGGTAGCCAGGTGGGAAAGGGCTGCCGTGCTGTT |
G |
G |
C___1505592_10 |
rs425694 |
|
asialoglycoprotein
receptor 2 |
ASGR2 |
Intron |
17 |
7216804 |
0.43 |
0.36 |
0.47 |
0.46 |
hCV1505592 |
TGGTGGGAAAAGATTTTAAGGTGAGAGAGATCTGAGCAGT[G/T]CTAGGCAGAAGGGCAAGAGCCAGGAATGGAGGAGTGTCAG |
C |
C |
C___1505686_10 |
rs314253 |
|
asialoglycoprotein
receptor 1|discs, large homolog 4 (Drosophila) |
ASGR1|DLG4 |
|
17 |
7292215 |
|
|
0.48 |
0.4 |
hCV1505686 |
TTGGACGGCCATGCCATCCACAGAATCACTACCCCTGGGT[C/T]GGTCTTTTGCATGAAACTCTCAACTTTAGTCAGGAGTGGC |
T |
C |
C___1505682_10 |
rs13331 |
|
discs,
large homolog 4 (Drosophila) |
DLG4 |
UTR
3 |
17 |
7294031 |
0.43 |
0.13 |
0.31 |
0.29 |
hCV1505682 |
|
#N/A |
#N/A |
C___1505681_1_ |
rs2242449 |
IMS-JST014693 |
discs,
large homolog 4 (Drosophila) |
DLG4 |
Intron |
17 |
7296072 |
0.44 |
0.31 |
0.49 |
0.36 |
hCV1505681 |
AGAGAGTCAGGCAGGAAGCGGGTATGGACAGAGTAAAAGA[T/C]AGAGGGAAAGGAAAGGGAAGATGGAGAGCACGGGAGAGGG |
T |
T |
C___2552959_10 |
|
|
discs,
large homolog 4 (Drosophila) |
DLG4 |
Intron |
17 |
7310560 |
0.47 |
0.48 |
0.48 |
0.42 |
hCV2552959 |
ACCATCCCTGTCTCCAGGGCCTTCCTTTCCTTGCTCTGTC[A/G]GCCTCATTCACTGCCCTGATCTCACAGTCTTATCCCTATC |
A |
G |
C___2261183_10 |
|
|
acyl-Coenzyme
A dehydrogenase, very long chain|discs, large homolog 4 (Drosophila) |
ACADVL|DLG4 |
Intron |
17 |
7318887 |
0.42 |
0.43 |
0.47 |
0.49 |
hCV2261183 |
|
#N/A |
#N/A |
C___1844481_10 |
rs739669 |
|
acyl-Coenzyme
A dehydrogenase, very long chain|discs, large homolog 4
(Drosophila)|dishevelled, dsh homolog 2 (Drosophila) |
ACADVL|DLG4|DVL2 |
UTR
5 |
17 |
7322942 |
0.41 |
0.18 |
0.31 |
0.32 |
hCV1844481 |
CCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCAC[A/G]CTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGG |
G |
G |
C___2261189_1_ |
rs222836 |
|
acyl-Coenzyme
A dehydrogenase, very long chain|dishevelled, dsh homolog 2
(Drosophila)|hypothetical protein MGC2941 |
ACADVL|DVL2|MGC2941 |
Mis-sense
Mutation |
17 |
7333727 |
|
|
0.48 |
0.43 |
hCV2261189 |
CACACCTGCTCATGGTGTCCTCCTCGTCCGAGTCCCCCAG[A/G]CTGGTACTCTCCAGCTCGCTGGTCATGAGGGTAGAGGAGC |
G |
A |
C___2261190_1_ |
rs222835 |
IMS-JST000975 |
acyl-Coenzyme
A dehydrogenase, very long chain|dishevelled, dsh homolog 2
(Drosophila)|hypothetical protein MGC2941|GABA(A) receptor-associated
protein|dullard homolog (Xenopus laevis)|likely ortholog of Xenopus dullard |
ACADVL|DVL2|MGC2941|GABARAP|DULLARD|HSA011916 |
Intron |
17 |
7334694 |
0.43 |
0.41 |
0.32 |
0.35 |
hCV2261190 |
GTCATCTGAAATTTCTTCCTTCACCACCCTGCCAAGCGAC[A/G]AGGTAGAGGTCAGTGAGCTGGACCAACCATCCCCACCCCG |
A |
A |
C___2552965_1_ |
rs222843 |
IMS-JST000984 |
dishevelled,
dsh homolog 2 (Drosophila)|hypothetical protein MGC2941|GABA(A)
receptor-associated protein|S-phase 2 protein|dullard homolog (Xenopus
laevis)|HSPC002 protein|likely ortholog of Xenopus dullard |
DVL2|MGC2941|GABARAP|DERP6|DULLARD|HSPC002|HSA011916 |
|
17 |
7346546 |
0.42 |
0.2 |
0.26 |
0.35 |
hCV2552965 |
ACGTAGCAAAGACGGTTGGCTTTTGCTCATCGAAAATTAC[T/C]CTAAACCTATTCCCCAACCGTCCCCTCAAGGAAGCTGGGG |
C |
C |
C___2552967_1_ |
rs2074219 |
IMS-JST000980 |
claudin
7|GABA(A) receptor-associated protein|S-phase 2 protein|dullard homolog
(Xenopus laevis)|HSPC002 protein|likely ortholog of Xenopus dullard |
CLDN7|GABARAP|DERP6|DULLARD|HSPC002|HSA011916 |
Intron |
17 |
7357012 |
0.42 |
0.2 |
0.26 |
0.34 |
hCV2552967 |
GTAGCAGTTCCTTAAATATTCATTGAAGAATTGGATATGG[A/G]TCTTTCAGGAGGCAAGAATTAATAAGAGGAGTGATGAGTA |
A |
A |
C___2552968_1_ |
rs402514 |
IMS-JST000985 |
claudin
7|GABA(A) receptor-associated protein|S-phase 2 protein|dullard homolog
(Xenopus laevis)|HSPC002 protein|likely ortholog of Xenopus dullard |
CLDN7|GABARAP|DERP6|DULLARD|HSPC002|HSA011916 |
Intron |
17 |
7358768 |
0.42 |
0.18 |
0.26 |
0.35 |
hCV2552968 |
TCTGCCAAGGAGTGTGCCCCTTTTCCTTTCTACCCTAGAA[G/T]AAACATCTGGGTTCTCCAGTCAGACCTTTTTTCATTTTTT |
T |
T |
C___2552973_1_ |
|
|
claudin
7|GABA(A) receptor-associated protein|S-phase 2 protein|dullard homolog
(Xenopus laevis)|HSPC002 protein|likely ortholog of Xenopus dullard |
CLDN7|GABARAP|DERP6|DULLARD|HSPC002|HSA011916 |
Mis-sense
Mutation |
17 |
7364304 |
0.42 |
0.19 |
0.26 |
0.35 |
hCV2552973 |
ATACTCCTTGGAAGAGTTGGACTTAGGGTAAGAGCGGGGT[G/A]CACGGTACCCAGCCTTGCTCTCATTCCCAGGACAGGAACA |
A |
A |
C___2552979_10 |
rs5418 |
|
germ
cell specific Y-box binding protein|solute carrier family 2 (facilitated
glucose transporter), member 4 |
YBX2|SLC2A4 |
|
17 |
7385657 |
0.49 |
0.31 |
0.48 |
0.31 |
hCV2552979 |
CCCGCTCCACCAGATCCGCGGGAGCCCCACTGCTCTCCGG[A/G]TCCTTGGCTTGTGGCTGTGGGTCCCATCGGGCCCGCCCTC |
A |
A |
C___8727413_1_ |
rs1634382 |
IMS-JST000981 |
germ
cell specific Y-box binding protein|solute carrier family 2 (facilitated
glucose transporter), member 4 |
YBX2|SLC2A4 |
Intron |
17 |
7394826 |
0.39 |
0.41 |
0.34 |
0.3 |
hCV8727413 |
CGATGACAGGGACATACTTAGGACATCCCTTAGCCCTAGC[A/G]TTAAGGAAGAGGACATCAGGGTGAGAGAACACAGTCCCAT |
G |
G |
C___1477327_10 |
|
|
G
protein pathway suppressor 2|eukaryotic translation initiation factor 5A |
GPS2|EIF5A |
|
17 |
7408938 |
0.06 |
0.08 |
0.33 |
0.24 |
hCV1477327 |
CTGGGGGTTAGCATAACAGGCTACACAAATGTAGTAATTC[C/A]ATCTAGTGTTTGCAGTTCACATGTATCGTGTCACAAGACT |
C |
C |
C___1477320_10 |
rs1007605 |
|
G
protein pathway suppressor 2|eukaryotic translation initiation factor 5A |
GPS2|EIF5A |
Intron |
17 |
7414457 |
|
|
0.39 |
0.43 |
hCV1477320 |
CTGTGCTCTTCTGGCTTCCTTATTTTCTAGCTACATAGTT[A/G]TTTCTGATCTCCCTGCAAGTCCTTTTCTTCAGCTCTTTCA |
G |
A |
C___1477310_10 |
rs3809813 |
|
G
protein pathway suppressor 2|eukaryotic translation initiation factor 5A |
GPS2|EIF5A |
Mis-sense
Mutation|UTR 5 |
17 |
7425486 |
0.16 |
0.03 |
0.29 |
0.44 |
hCV1477310 |
CCAGCCTCTCTAGGTTCCGGCCATAGTTCATCCTCTGGAG[C/G]TGCCCATCACGCCTCACTTCACAGCTGGATACCATCCAAG |
G |
G |
C___9277461_10 |
rs3809817 |
|
G
protein pathway suppressor 2|centaurin, beta 1 |
GPS2|CENTB1 |
|
17 |
7433727 |
0.38 |
0.21 |
0.39 |
0.42 |
hCV9277461 |
AAGTCTCTTCCCGCCACCCGACTGAGGACGAAGTGTCTTG[C/G]AACAGTGCGGCAGTCCTTCCACTTTGCCTCACACCTCTCC |
G |
C |
C___1477291_10 |
|
|
centaurin,
beta 1 |
CENTB1 |
Intron |
17 |
7450435 |
0.2 |
0.07 |
0 |
0.06 |
hCV1477291 |
GTGATACTCTAATATATCTAAACAACTGCCAATCTGAAAG[G/T]CAGGGCCCACCACAATGGAGGCCCCCCATGCAGCTCCAGA |
T |
T |
C___1477274_10 |
|
|
hypothetical
protein LOC339168 |
LOC339168 |
|
17 |
7466197 |
0.45 |
0.47 |
0.23 |
0.26 |
hCV1477274 |
AAGAAGGAAGAGAATGTCCAGGGTACAGTTGGCGCTGCCA[T/C]GAAGCTCCAGAGAGGTCACAGAGAAGTGATGGGCTCAGGG |
C |
C |
C___8717889_1_ |
rs1554948 |
IMS-JST024056 |
phospholipid
scramblase 3|tyrosine kinase, non-receptor, 1|hypothetical protein MGC40107 |
PLSCR3|TNK1|MGC40107 |
Nonsense
Mutation |
17 |
7486891 |
0.43 |
0.35 |
0.22 |
0.37 |
hCV8717889 |
TCCGGGACATCCAGTTGGCCCAGTTTTACTGGCCCATCCT[A/T]GAGGAGCTTAATGTCACTCGGCCAGAGCACTTCGACTTTG |
A |
A |
C___8045331_10 |
rs3829603 |
|
cholinergic
receptor, nicotinic, beta polypeptide 1 (muscle)|fibroblast growth factor
11|hypothetical protein FLJ36878 |
CHRNB1|FGF11|FLJ36878 |
UTR
3 |
17 |
7547607 |
0.3 |
0.33 |
0.21 |
0.26 |
hCV8045331 |
GCCTCTTTCTACTTGGAAACCAGGGGTCCATCTGAGTCAA[G/T]GACAGAGGCCTGACAGATCCAGAGAAAAGGCTGGCAGCAT |
C |
C |
C___1247866_1_ |
rs2302765 |
IMS-JST059217 |
cholinergic
receptor, nicotinic, beta polypeptide 1 (muscle)|fibroblast growth factor 11 |
CHRNB1|FGF11 |
Intron |
17 |
7551540 |
0.12 |
0.08 |
0.18 |
0.23 |
hCV1247866 |
GCTGGAAATGATAGAGCCCATGGATGTAGGAGCCATGCCT[A/G]CTCACCAATGAAAGTCCCTTCATGAATGTGGATTTCCTGA |
C |
C |
C___1247868_10 |
|
|
cholinergic
receptor, nicotinic, beta polypeptide 1 (muscle)|fibroblast growth factor 11 |
CHRNB1|FGF11 |
Intron |
17 |
7552401 |
0.12 |
0.13 |
0.16 |
0.22 |
hCV1247868 |
GGAACACAGATGTGAGAGCTGTCCTGGTTAGTGCCAGGTA[C/T]GGCTTGCTCTGCCACAGCCTAGACCTGAGAGGGCTGACTT |
G |
G |
C___1247888_10 |
|
|
polymerase
(RNA) II (DNA directed) polypeptide A, 220kDa|zinc finger and BTB domain
containing 4|KAISO-like zinc finger protein 1 |
POLR2A|ZBTB4|KAISO-L1 |
Intron |
17 |
7578558 |
0.12 |
0.13 |
0.2 |
0.26 |
hCV1247888 |
TATAATTGTCATCCCTATCTCCAGGCCAACTCAGTCCAGC[G/A]TGGACGATGGCTTCCATCCTGGAGGATGGACTTTGAGGAC |
T |
T |
C___1247906_10 |
|
|
polymerase
(RNA) II (DNA directed) polypeptide A, 220kDa |
POLR2A |
Intron |
17 |
7596892 |
0.35 |
0.49 |
0.3 |
0.38 |
hCV1247906 |
CCAAAATGGTCTACAGATGCAAAGCTGAAGAAGTTCTGCA[A/C]ACCTCTCAGCCTCAGACAGGTTCAAAACTCTCATCAACAT |
G |
G |
C__16170627_10 |
rs4444396 |
|
polymerase
(RNA) II (DNAdirected) polypeptide A, 220kDa |
POLR2A |
Silent
Mutation |
17 |
7605556 |
0.06 |
0.12 |
0.06 |
0.1 |
hCV16170627 |
TGGAACCTTTAGCTCCGGACACGACCATAGACTTGAAGTT[A/G]TTGTATTCAGACAGGGATTTCTGAGCAGAGGAGCCAGTCT |
T |
T |
C___1247913_20 |
rs2071504 |
IMS-JST007019 |
polymerase
(RNA) II (DNA directed) polypeptide A, 220kDa |
POLR2A |
Silent
Mutation |
17 |
7606502 |
0.12 |
0.11 |
0.2 |
0.24 |
hCV1247913 |
TCTGGAACTCAACGCTCTCGCCTGCCAGGCCGTCTTCGCC[G/A]TAGCGCAGCTGCACCACCTGGTTGATGGAGTTCCGCACAG |
T |
T |
C___1247914_10 |
|
|
polymerase
(RNA) II (DNA directed) polypeptide A, 220kDa |
POLR2A |
Intron |
17 |
7606699 |
0.31 |
0.47 |
0.23 |
0.3 |
hCV1247914 |
ACACAGCTGTTTCAGATAGGTGGGGAAGGATGCTGAAAGG[T/C]AAGCTCTAGTGCAAGACACATACCAGGCTATCTCTCTGGA |
A |
A |
C___1247931_10 |
|
|
polymerase
(RNA) II (DNA directed) polypeptide A, 220kDa |
POLR2A |
UTR
3 |
17 |
7618228 |
0.36 |
0.44 |
0.38 |
0.5 |
hCV1247931 |
CCAGTGAGTTCTAACAGCACAAGTGGAGAACAAGACAAGA[G/A]TCTGCATCAGAAACGGGATCCAGAAGTTCACCGGGAGCTC |
C |
C |
C____504738_10 |
rs3803798 |
|
sentrin/SUMO-specific
protease 3|tumor necrosis factor (ligand) superfamily, member 13|tumor
necrosis factor (ligand) superfamily, member 12 |
SENP3|TNFSF13|TNFSF12 |
IntronSilent
Mutation|UTR 3 |
17 |
7661082 |
0.46 |
0.47 |
0.29 |
0.45 |
hCV504738 |
CAGACACCTGGCAGAGGCGGAGCTGGGGCCCGAGGGAACT[G/C]GCCGCAGTGGCTGAGAATTCCTCCAGGCAGCGCAGGGCCA |
G |
G |
C__12123773_10 |
|
|
CD68
antigen|eukaryotic translation initiation factor 4A, isoform
1|mannose-P-dolichol utilization defect 1|sentrin/SUMO-specific protease 3 |
CD68|EIF4A1|MPDU1|SENP3 |
Intron |
17 |
7678845 |
0.08 |
0.16 |
0.07 |
0.08 |
hCV12123773 |
ACTACCTTCCCAATCAACACAGTTACACAATGGGAACCAG[G/A]TCAGAAACAAGGACCAGTTATTAACTCATCTAGTATTGCA |
C |
C |
C__11955747_10 |
|
|
CD68
antigen|SRY (sex determining region Y)-box 15|eukaryotic translation
initiation factor 4A, isoform 1|fragile X mental retardation, autosomal
homolog 2|mannose-P-dolichol utilization defect 1|sentrin/SUMO-specific
protease 3 |
CD68|SOX15|EIF4A1|FXR2|MPDU1|SENP3 |
Mis-sense
Mutation |
17 |
7684666 |
0.18 |
0.19 |
0.14 |
0.22 |
hCV11955747 |
GTCTAGTGGTAGCAATGAGAAAGGGAAGGAGGTTACTTAC[G/T]TGCTGCGTGGGGGAAGGACACATTGTACTCCACCGCCATG |
A |
A |
C___8727455_10 |
rs4227 |
|
CD68
antigen|SRY (sex determining region Y)-box 15|eukaryotic translation
initiation factor 4A, isoform 1|fragile X mental retardation, autosomal
homolog 2|mannose-P-dolichol utilization defect 1 |
CD68|SOX15|EIF4A1|FXR2|MPDU1 |
UTR
3 |
17 |
7691742 |
|
|
0.23 |
0.17 |
hCV8727455 |
GCTGGAGGACAGGGTAAAACATTTGCCCAGGATAGTGTTA[A/C]ACAGCTGGAAATTGCTGCTAGAGGAGGAGGCTTGGCTGAA |
G |
G |
C__15957276_10 |
rs2270339 |
IMS-JST024810 |
fragile
X mental retardation, autosomal homolog 2 |
FXR2 |
Intron |
17 |
7709710 |
0.03 |
0.29 |
0.23 |
0.17 |
hCV15957276 |
GCCTGGGGTTTAGCCTCTAATTATCCAGATAGGTGGAACT[C/T]GCCCAGCTGAGGCAATAACCCTTTTGTAAAGAAATGGGCA |
A |
A |
C___8727474_1_ |
rs858521 |
|
sex
hormone-binding globulin|spermidine/spermine N1-acetyltransferase 2|polyamine
N-acetyltransferase |
SHBG|SAT2|SSAT2 |
Intron |
17 |
7730713 |
|
|
0.37 |
0.23 |
hCV8727474 |
AGCCCAGCCGGTGTCATTTTCTGATCCCCTTCAGCTCAAA[G/C]AATAGCTATTTTTTGCCTCTTTCTCTCCACAACAGGTCAA |
C |
C |
C___3290005_10 |
rs727428 |
|
sex
hormone-binding globulin|spermidine/spermine N1-acetyltransferase 2|polyamine
N-acetyltransferase |
SHBG|SAT2|SSAT2 |
|
17 |
7738358 |
|
|
0.4 |
0.38 |
hCV3290005 |
CAGCAATGGCCAGTCCAAGGACCAGATGACTGAGATGTCA[A/G]AATCCCATCTCTTCCCTTCCTCCTGATCTCTCTGGACCAG |
T |
C |
C__12123693_10 |
rs1642800 |
|
sex
hormone-binding globulin |
SHBG |
|
17 |
7744560 |
0.03 |
0.29 |
0.34 |
0.37 |
hCV12123693 |
CACTGAGGGCTGTACCCGTCTATCTCCTTCCCGTCAGTCC[A/G]TGCAATTCCAGGGACTTAGCCGTCTGGGTTCCCAACAAAA |
C |
C |
C___3289964_10 |
rs1641530 |
|
ATPase,
Na+/K+ transporting, beta 2 polypeptide |
ATP1B2 |
|
17 |
7748618 |
0.28 |
0.49 |
0.34 |
0.36 |
hCV3289964 |
CATCTAGTGGATGTGGTTTGGATTTTAATCCAACCACCAT[G/A]AAAACAATTCTGTGGTTTCAGGAAGGAGAGTGACATAATC |
T |
T |
C___8727699_1_ |
|
|
ATPase,
Na+/K+ transporting, beta 2 polypeptide |
ATP1B2 |
UTR
3 |
17 |
7760028 |
0.18 |
0.26 |
0.31 |
0.34 |
hCV8727699 |
CTCACAGCTAAACCAGAACTAGAAAGGCTCCTAACTCCTC[T/C]GTGGCCATCTTAGCCCAGCTCCCTGTCTGACTGATCTGAG |
G |
G |
C___8727700_1_ |
|
|
ATPase,
Na+/K+ transporting, beta 2 polypeptide |
ATP1B2 |
UTR
3 |
17 |
7760243 |
0.17 |
0.32 |
0.35 |
0.36 |
hCV8727700 |
GTAGACAGGGAGAAAGTATGAGAGATCAAGGGACGGTGGC[T/C]AGAGCTTAGGAATGGAAGGAGGGAGTGCCACATTCATCTC |
G |
G |
C___2880106_1_ |
rs2287498 |
IMS-JST038382 |
hypothetical
proteinFLJ10385|tumor protein p53 (Li-Fraumeni syndrome) |
FLJ10385|TP53 |
Silent
Mutation |
17 |
7793126 |
0.06 |
0.28 |
0.39 |
0.27 |
hCV2880106 |
ACTCTGACCAGGAACCACTGAGAAATCGAGGCAGCTGGGA[G/A]AAGCTGTAGTTCCAAGCGCTGAAAGGAAGATGGGGGACAA |
T |
T |
C___2880107_1_ |
rs2287497 |
IMS-JST038381 |
hypothetical
protein FLJ10385|tumor protein p53 (Li-Fraumeni syndrome) |
FLJ10385|TP53 |
Intron |
17 |
7793346 |
0.07 |
0.5 |
0.39 |
0.27 |
hCV2880107 |
GCCCCCCTGAATCCTTGAGGGAAGTAGAAGACACAAACTG[T/C]TAGATAAAATGTAAGCTCAGTCTAAAAGGGCTACGTGCCG |
A |
A |
C___2880113_10 |
|
|
ephrin-B3|hypothetical
protein FLJ10385|tumor protein p53 (Li-Fraumeni syndrome) |
EFNB3|FLJ10385|TP53 |
Intron |
17 |
7799826 |
0.08 |
0.31 |
0.39 |
0.28 |
hCV2880113 |
TCTCACCACTGCTTCCCCAACACGTGGTGCAGAATAAGCA[C/G]AGTCAACAAATACGGTTTTAATGAGCAAAAGGAGGCAGGA |
G |
G |
C___2880053_10 |
|
|
ephrin-B3|hypothetical
protein FLJ10385 |
EFNB3|FLJ10385 |
|
17 |
7807585 |
0.16 |
0.33 |
0.49 |
0.38 |
hCV2880053 |
CAGTTTACCAAGTTGCCTAGCAACCAACCAGTCAATGGCA[T/C]GAAGCCCCACCCCCACCCACTTGACTTCACACCAAGCTCA |
G |
G |
C____155589_10 |
|
|
|
|
|
17 |
7872961 |
0.08 |
0.31 |
0.26 |
0.19 |
hCV155589 |
AGAGAGGGAGGCCCCAGGGCAGGGGTCAGAGAACAAGAAG[C/T]CAGCAAGGCTGGATGACCCGAGACAGTGCAAGAAGCAGAG |
G |
G |
C____262231_10 |
|
|
|
|
|
17 |
7878493 |
0.1 |
0.31 |
0.27 |
0.19 |
hCV262231 |
TGCCATGAGGGTTTCTGGACGCAGAGAAGTATCCCCAGAC[T/C]GTCTAACATGCTCAACCCATTCTCTCTGTTAATTCATTAC |
A |
A |
C___8717952_10 |
rs872346 |
|
|
|
|
17 |
7921596 |
|
|
0.06 |
0.14 |
hCV8717952 |
TCCCATGCTCCCGTACCGCCCCCACGCCCAGCAGCACCCT[C/T]ACCTGTTGCCTCGGGTGACGATGATGCCATTCTCAGTGGA |
A |
A |
C__12123528_10 |
|
|
|
|
|
17 |
7933523 |
0.36 |
0.21 |
0.26 |
0.17 |
hCV12123528 |
GGGGTGCCAGAAAAATGAACAAAGATAAGTACATATACGT[T/G]CAACTAACAAAAATGTACGGAATTGCGTGCAAAGGTTAGT |
A |
A |
C____197857_10 |
rs4130668 |
|
|
|
|
17 |
7940230 |
0.3 |
0.39 |
0.25 |
0.18 |
hCV197857 |
GGACACGGCGAGAGGAAGAGTTATATAACCGGGAGAAGCG[A/G]AGAAGGACGAGTGGAGACAGGGACAGACAGCCCGAAAGGA |
T |
T |
C____438986_10 |
rs1565816 |
|
hypothetical
protein FLJ32499|hypothetical protein MGC14151 |
FLJ32499|MGC14151 |
|
17 |
7968054 |
|
|
0.27 |
0.19 |
hCV438986 |
GATAAAGATCAGTCAGGTTTCTAATTCTGTGTGCATTCTT[A/C]CAGCCAAACCGTGTACTCTACTGACCCATGATCAAGTGGC |
T |
T |
C__12125295_10 |
rs2029739 |
|
chromodomain
helicase DNA binding protein 3 |
CHD3 |
|
17 |
7984564 |
0.06 |
0.02 |
0.25 |
0.24 |
hCV12125295 |
TACCCTATAAATATAGGCACTGTTAATAAGTAACAGTAAG[C/T]TGAGCTTACATGCACACAGAGTAGGTAGAGGACTGCCCTG |
A |
A |
C__12117338_10 |
|
|
chromodomain
helicase DNA binding protein 3 |
CHD3 |
|
17 |
7990341 |
|
|
0.07 |
0 |
hCV12117338 |
TTGCCACAGAAGCCACACGGATCAATATGACAGTTTTACA[G/A]AGAGCCCGGAGTTGGCCGTTTTGAAGTTTGGTGCATTTGT |
C |
C |
C__15968223_10 |
rs2279620 |
|
chromodomain
helicase DNA binding protein 3 |
CHD3 |
|
17 |
7993031 |
0.11 |
0.07 |
0.34 |
0.34 |
hCV15968223 |
|
#N/A |
#N/A |
C____463954_10 |
|
|
chromodomain
helicase DNA binding protein 3 |
CHD3 |
|
17 |
7994768 |
0.44 |
0.29 |
0.07 |
0.04 |
hCV463954 |
TTTGGTGAAGTAGGTGCTCCTCCAGCCCCTATTCCAGGCC[G/C]CACACAGGCCTGTCTACCTACCCACTAGCTTCCCTGGGCT |
C |
C |
C____430226_10 |
|
|
chromodomain
helicase DNA binding protein 3|potassium voltage-gated channel,
shaker-related subfamily, beta member 3|MUM2 protein |
CHD3|KCNAB3|MUM2 |
|
17 |
8026140 |
0.49 |
0.49 |
0.15 |
0.12 |
hCV430226 |
GGAAGTCTTACAGAGAAGGGGCCATCATTATTGCTTTAGG[G/T]TTATTGCCAGGAGGAAGACTGCAGTTCCCCACTGCCAGGT |
T |
T |
C____435273_10 |
|
|
LYST-interacting
protein LIP8|potassium voltage-gated channel, shaker-related subfamily, beta
member 3|trafficking protein particle complex 1|MUM2 protein |
LIP8|KCNAB3|TRAPPC1|MUM2 |
Intron |
17 |
8042371 |
0.48 |
0.44 |
0.22 |
0.22 |
hCV435273 |
CCATCATCGTCAAAAGAAATTCCACTAAGACTAGAATATC[C/T]AGCCTATAATCGTGAACCATCACCCATCATCATCAGGACT |
G |
G |
C____111930_10 |
|
|
LYST-interacting
protein LIP8 |
LIP8 |
|
17 |
8053922 |
0.49 |
0.47 |
0.22 |
0.22 |
hCV111930 |
AGCGTGAAGACTATAGCAACAATATGTCTGCTGGCTGGAG[T/C]AGAATCTGCCAATCTGAATCCTACAAATGCAACCTGAAAG |
A |
A |
C__12117292_10 |
|
|
guanylate
cyclase 2D, membrane (retina-specific) |
GUCY2D |
|
17 |
8099876 |
0.33 |
0.15 |
0.04 |
0.09 |
hCV12117292 |
TTGCTATTGCTGCTCCGATGAATACCTTGTACAAGCCTCA[C/T]TTTGCATATATCTAAGTACATCTACAGGCAAATTGCCTGT |
G |
G |
C__12117271_1_ |
rs2075815 |
IMS-JST003637 |
arachidonate
15-lipoxygenase, second type |
ALOX15B |
Intron |
17 |
8150316 |
0.32 |
0.15 |
0.19 |
0.27 |
hCV12117271 |
TGCTCCTTCCTCTCCCTGAGCCTCAGGTTGTTTTGTCAAA[C/T]GTGGGTGCTGATGTGGCTGAGCCCTGTGTCTTCCGGCTCT |
G |
G |
C__12117264_10 |
|
|
arachidonate
12-lipoxygenase, 12R type |
ALOX12B |
|
17 |
8170905 |
0.21 |
0.06 |
0.14 |
0.14 |
hCV12117264 |
TCCTGATGCTGATGGCTGGGCTGGGCTTCCCTCCTCTCTA[C/G]CACAACGGGTTGGATGACTTTACTTTTCCAAGTGGTTTTC |
C |
C |
C__12117258_10 |
|
|
arachidonate
12-lipoxygenase, 12R type |
ALOX12B |
|
17 |
8176018 |
|
|
0.26 |
0.11 |
hCV12117258 |
CAAGCCCGGCTCACTCTGAAGCCCAGACCACTCTAAACTC[T/C]CCCTACTAGGAATCCACAGCACCCTAAACCACACCCACCA |
A |
A |
C___9276996_1_ |
rs2289588 |
IMS-JST041218 |
arachidonate
lipoxygenase 3 |
ALOXE3 |
Intron |
17 |
8208249 |
0.42 |
0.39 |
0.36 |
0.23 |
hCV9276996 |
CTCCTATCCTGACCCACTTCAGAGACCACAAATCTTGGTG[G/A]TGGCCATCCCTAACCAGCCCGACAAGACAGTCATGGCTCG |
C |
C |
C___9276973_10 |
rs3027213 |
|
arachidonate
lipoxygenase 3|hairy and enhancer of split 7 (Drosophila) |
ALOXE3|HES7 |
Intron |
17 |
8216579 |
0.43 |
0.46 |
0.37 |
0.36 |
hCV9276973 |
AAGAGTATGCATCTCTCCACGTGCCAGCCCCTCTTCTACC[T/G]TCCAGTGTACAAAGCATGTCTCTGATCATGTTTGGAGAGC |
C |
C |
C___9276965_10 |
rs3027232 |
|
arachidonate
lipoxygenase 3|hairy and enhancer of split 7 (Drosophila) |
ALOXE3|HES7 |
|
17 |
8222631 |
|
|
0.42 |
0.47 |
hCV9276965 |
GCGGAAAGAATGCCACGCGGGGCATTCAGACCCTGTTTGC[T/C]GGCGCTGTATTTCGCTTTCCTGACCTGCCCTACTCCAGAG |
A |
G |
C__15770214_10 |
rs3027178 |
|
period
homolog 1 (Drosophila)|vesicle-associated membrane protein 2 (synaptobrevin
2) |
PER1|VAMP2 |
Silent
Mutation |
17 |
8253651 |
|
|
0.33 |
0.22 |
hCV15770214 |
ATACCCTGGAGGAGCTGGAGCACATCACGTCTGAGTACAC[C/A]CTTCAGAACCAGGTCAGCGGCGGCCTGGCCTCTGCATCCC |
G |
G |
C___3083853_10 |
|
|
period
homolog 1 (Drosophila)|vesicle-associated membrane protein 2 (synaptobrevin
2) |
PER1|VAMP2 |
|
17 |
8257635 |
|
|
0.08 |
0.11 |
hCV3083853 |
CAGAGCCCTCCCCTTCACCCTTCCCTCATTGTTCAGGAAA[T/G]CTTAGGCCACGTGACAGTGAGGGGAGTGCCCCCACAATGA |
A |
A |
C__25749757_10 |
|
|
hypothetical
protein MGC10744 |
MGC10744 |
Intron |
17 |
8279595 |
|
|
0.48 |
0.45 |
hCV25749757 |
CTTTCTGCCTGCCCACCTTTCCCACACGACCCACTTCTAT[G/C]AGGACTCCCTTCAGCCACCTGACACAATAGTGTCTGCTGT |
G |
C |
C___7453128_10 |
rs1476162 |
|
hypothetical
protein FLJ20014 |
FLJ20014 |
|
17 |
8291649 |
0.09 |
0.24 |
0.46 |
0.48 |
hCV7453128 |
CTCAAGACACGCCCACTTTAGAATGCGCTCCAATACGCTC[C/T]CTGTTCTGGGATTGGAAATGTGGCGCTGTTTTTCCCCAGA |
G |
A |
C__22275215_10 |
rs3826543 |
|
hypothetical
protein FLJ22170|hypothetical protein FLJ34790 |
FLJ22170|FLJ34790 |
Silent
Mutation |
17 |
8333329 |
|
|
0.42 |
0.36 |
hCV22275215 |
CCCTGCAGAAGTTCAGCCAGGTAGATGTGGGGCAGGGGAA[T/C]GCTAAATAAATACAGGGAGACAGAGACAGGGGTCAAGATA |
C |
C |
C__25610955_10 |
|
|
hypothetical
protein FLJ22170|phosphoribosylformylglycinamidine synthase (FGAR
amidotransferase) |
FLJ22170|PFAS |
Intron |
17 |
8359798 |
0.12 |
0.14 |
0.41 |
0.34 |
hCV25610955 |
GCACTGTGGAGGCCTTTGACTTGGCGCAGTCCAATAGGTG[G/A]GGAGAAATGGGGTTGTTCCCATACCTGAGCCCATGGGTGT |
A |
A |
C____470305_10 |
|
|
phosphoribosylformylglycinamidine
synthase (FGAR amidotransferase) |
PFAS |
Intron |
17 |
8369572 |
0.17 |
0.34 |
0.4 |
0.33 |
hCV470305 |
ATGGCCCCATCCTTTGTGATCTTTGCTTGTGTGATCTTTG[C/T]TTGGCTCCTGCTTTGTGAGTGCTGGGCCCCCATCTCAACA |
C |
C |
C__12117162_10 |
|
|
phosphoribosylformylglycinamidine
synthase (FGAR amidotransferase) |
PFAS |
UTR
3 |
17 |
8373298 |
0.17 |
0.48 |
0.32 |
0.22 |
hCV12117162 |
CAGACAAGGACCAAAATGCCAAAATCTCAGCGGACTCGAT[A/G]ATCTGCCTGCTGATGTTCCTTCTGTGGCTGTGTCTATTTT |
G |
G |
C__11952708_10 |
|
|
phosphoribosylformylglycinamidine
synthase (FGAR amidotransferase) |
PFAS |
UTR
3 |
17 |
8374333 |
|
|
0.3 |
0.2 |
hCV11952708 |
AATTAATTCTCACTAAAATTCAGCAAAGGACTTGATAGCC[C/T]CTCCCCGCCTTTTCAATAAAGGATGAATGAAGGTTGACTG |
T |
T |
C___7453264_10 |
rs11245 |
|
RAN
guanine nucleotide release factor|homolog of yeast MOG1 |
RANGNRF|MOG1 |
|
17 |
8394039 |
0.17 |
0.34 |
0.41 |
0.33 |
hCV7453264 |
AGGACACCTGGGTCCCAGACGCCTGGGAATTGGGTCTCTC[A/G]ATTCCCTTTGGTTTTGGAGGGAGGAGTTTAAAACTGTGCA |
A |
A |
C___2038584_10 |
|
|
outer
dense fiber of sperm tails 4 |
ODF4 |
Mis-sense
Mutation |
17 |
8444227 |
|
|
0.22 |
0.29 |
hCV2038584 |
AGGCTCCTAGAGAGGTCCAGCCATTTCTTGGAGAAGGCCA[C/T]GACCAATAGTAGGATAAAGGCAACCAGGCTGAGCTCAGAG |
A |
A |
C__15758228_10 |
rs2302869 |
|
outer
dense fiber of sperm tails 4 |
ODF4 |
Silent
Mutation |
17 |
8449682 |
0.01 |
0.11 |
0.32 |
0.43 |
hCV15758228 |
CCTTCTGCTCAGGATCCAGGACTCCCTCCTGGGTGATGGG[A/G]GTGTCTGTGATCGTCTGTGCCCTTGGAGATTCTTCTACTG |
T |
T |
C__15754042_10 |
rs2313148 |
|
outer
dense fiber of sperm tails 4 |
ODF4 |
|
17 |
8452411 |
|
|
0.27 |
0.29 |
hCV15754042 |
AGAGGATTAAAGTGGGATACAGAGTAGAGATTTGTGGAAT[A/G]TCTGTTGTGCCTAATTTTCAAGCCCTTGTATTATGTTCCT |
T |
T |
C___3201247_1_ |
rs1695213 |
IMS-JST038389 |
ribosomal
protein L26 |
RPL26 |
|
17 |
8479890 |
0.23 |
0.44 |
0.3 |
0.44 |
hCV3201247 |
GGTACAGGTTGTTGAGATGAAGGAGAGATGGCAATCAGCT[G/A]AAGTTACTGAATACGTCAGGAAGGAGGCTGGTTTCAGCTG |
C |
C |
C___7453533_10 |
rs1391768 |
|
nudE
nuclear distribution gene E homolog like 1 (A. nidulans)|LIS1-interacting
protein NUDEL; endooligopeptidase A |
NDEL1|NUDEL |
Intron |
17 |
8541432 |
0.47 |
0.46 |
0.49 |
0.29 |
hCV7453533 |
ATAAACACGGTCTCTCTTTGATTCTATCAGACTTCTTTTT[C/T]ACTTTATGGAGTGCTCAGAAACTTACGTCAGAAGTAATTT |
A |
G |
C___7453519_10 |
rs1391766 |
|
nudE
nuclear distribution gene E homolog like 1 (A. nidulans)|LIS1-interacting
protein NUDEL; endooligopeptidase A |
NDEL1|NUDEL |
Intron |
17 |
8560069 |
0.47 |
0.38 |
0.49 |
0.29 |
hCV7453519 |
AGGTTTAATCTGATGGTTAGAAAATAACCCCTATGATGAG[G/C]TGAAACAGGCAAACATAGGACCTGTGTCTTGGCCTCCCAT |
G |
C |
C___7453483_10 |
rs904415 |
|
|
|
|
17 |
8598143 |
0.47 |
0.37 |
0.5 |
0.3 |
hCV7453483 |
AACTGAGGGATGCCTAAGACGGGAGAGGTGATCCTAGTTC[A/G]AAGGGCTGAGGGCCTGAACTAAGACGGGGCAGGGGGTGGA |
C |
C |
C__12120285_10 |
rs4791711 |
|
|
|
|
17 |
8606619 |
0.49 |
0.36 |
0.48 |
0.38 |
hCV12120285 |
CAGCTGTAGCACTCACTGATTCCGTTTTGCCTGCAGCTCA[A/G]ACATGTCCTCCATTCTTGCTAAGGACCCTTAGAGAACACA |
T |
C |
C___1239837_10 |
|
|
|
|
|
17 |
8608051 |
0.5 |
0.42 |
0.47 |
0.38 |
hCV1239837 |
GGGACAGAGTGTGCAGTGGGCAGAGGCATATGCAGCATCA[C/T]GAGCCAGCAGCCAGGGCGGGCATGAAAAAAGTGACGAGCA |
A |
G |
C___1239859_1_ |
rs2277671 |
IMS-JST074677 |
|
|
|
17 |
8625314 |
0.48 |
0.4 |
0.46 |
0.38 |
hCV1239859 |
TATAAGTGTGTGGCTGTTAGTTCCCGGCTTGTGCAGTGCC[T/A]AAGTATGCTGACTGCCTTACCTATATGGCATCTCCTGTCA |
T |
A |
C___1239867_10 |
rs1532348 |
|
|
|
|
17 |
8630749 |
0.49 |
0.42 |
0.46 |
0.4 |
hCV1239867 |
ATAGGTTTCTTCCCCCTTTTTTGGTTTCCAGCTATATTAA[G/C]TAGAATGAATTTCTGAAGATCTAGCTTAAATACTTGAAAG |
G |
C |
C___7453119_1_ |
rs971872 |
IMS-JST027604 |
|
|
|
17 |
8641778 |
0.49 |
0.37 |
0.45 |
0.37 |
hCV7453119 |
CAAGCTTTCACAAAACCTATGACCAATATTCAGAAACACA[G/A]GCTTCTAAGCTTACAGCTCTTGGAAATACCCGGTTCAGAG |
C |
T |
C___1239881_10 |
|
|
|
|
|
17 |
8646676 |
|
|
0.46 |
0.39 |
hCV1239881 |
GGCTGAGCTCTCAGCAATTCCATGCAGTAAAGATGACTCT[C/T]TTCCTACCTCACCTTAGAGCCCACAGCCTGAGTGACAGTG |
G |
A |
C___1239896_10 |
|
|
|
|
|
17 |
8662521 |
|
|
0.47 |
0.38 |
hCV1239896 |
GAGCCTACTGGCAGAAGAGAGAAGGGTGCCTACAGTTGCT[G/A]TCTCGAATAGCTATTAACCCAGAATGTTGTATCTCTTCAA |
C |
T |
C___3205626_10 |
rs423350 |
|
|
|
|
17 |
8674233 |
|
|
0.44 |
0.38 |
hCV3205626 |
GAATCTTCTCTACTTAGCCTTTTAAATCTGAGCAAGTTAG[C/T]AGCATCAACGTCTTTACCATCCTCTGAAAGTGGAGGTGAA |
G |
A |
C___3205627_10 |
rs418006 |
|
|
|
|
17 |
8674268 |
|
|
0.45 |
0.38 |
hCV3205627 |
TAAGTAAAGACACCGACTAAAGCAGACATTTTACCGAATC[C/T]TCTCTACTTAGCCTTTTAAATCTGAGCAAGTTAGTAGCAT |
G |
A |
C___2049229_10 |
|
|
|
|
|
17 |
8711925 |
0.23 |
0.17 |
0.21 |
0.26 |
hCV2049229 |
TGCTGGTCTTCTCGCACTGCCTCGAGTATATCCTGCCACT[T/G]TAAGAGTTTTGTGCTTTTACTACTTTAATAGGAATTCCTT |
A |
A |
C__12123462_10 |
|
|
|
|
|
17 |
8728401 |
0.24 |
0.43 |
0.2 |
0.4 |
hCV12123462 |
AAGAACCTCTAGCATTTTTGGCTAGGGGAGTGGAGTGAAC[A/G]GAGGGGAGAAGTGGGGATTTGATAGAGCAAGAGTAGGTAC |
C |
C |
C___7453475_10 |
rs1529606 |
|
|
|
|
17 |
8822756 |
0.33 |
0.48 |
0.42 |
0.46 |
hCV7453475 |
AAGAGAGAAGATTGGGCAAAAATTTGGCATGAGAACAGCC[G/T]TTAACCTGTCCCTTCAATACATTTGCTGCCTCAGAAAGGA |
G |
G |
C__11954608_10 |
rs2043155 |
|
hypothetical
protein FLJ32734 |
FLJ32734 |
|
17 |
8832602 |
0.18 |
0.27 |
0.03 |
0.06 |
hCV11954608 |
AAAGCACAGGGCCTCTGCTTTCTGGGAGGCAGACTGACGA[G/C]GGGGAGAGACCAGGCTCAGGAAGAGCAGACCCAGGGGTGA |
C |
C |
C___2866211_1_ |
rs1004444 |
|
hypothetical
protein FLJ32734 |
FLJ32734 |
Intron |
17 |
8845820 |
|
|
0.27 |
0.2 |
hCV2866211 |
GGCTCAGGGGGCTGTGAGGACAGAGGTTTAATCCAAAGTC[A/G]AGAGGTGGCCCTGGGGCTGGAGGGGCAGACAGGAAATGGT |
A |
A |
C___2866210_1_ |
rs1004445 |
|
hypothetical
protein FLJ32734 |
FLJ32734 |
Intron |
17 |
8845933 |
|
|
0.49 |
0.49 |
hCV2866210 |
GAGAGTGGACTGGGGAAGACCTACATTGCACTGGGCTCAC[A/G]GTCTGGAAGAACTCAACCCGCCGAGAAGACTGAGAAAAGT |
A |
A |
C___2536430_10 |
rs442502 |
|
phosphoinositide-3-kinase,
regulatory subunit, polypeptide p101 |
P101-PI3K |
|
17 |
8974406 |
0.23 |
0.1 |
0.5 |
0.35 |
hCV2536430 |
TGAGGACACAAGCGACCCTGGGGACCTCTTTTCCTAAGCA[T/C]GTAATTCTTGCCTGACTCCAATACTGTGGTCCTGCAGACC |
A |
A |
C___2953157_10 |
rs454852 |
|
phosphoinositide-3-kinase,
regulatory subunit, polypeptide p101 |
P101-PI3K |
Intron |
17 |
8988004 |
0.1 |
0.33 |
0.09 |
0.15 |
hCV2953157 |
TCCTCTTAGCACCTGCCCATGCTGCCTCTGTGCTGGGCAG[A/G]GGAAAAGAGGGGTTGAGCAGGGAAGCCTAGGCCTCACTTT |
T |
T |
C___2536455_10 |
rs365024 |
|
phosphoinositide-3-kinase,
regulatory subunit, polypeptide p101 |
P101-PI3K |
Intron |
17 |
8994471 |
0.39 |
0.38 |
0.09 |
0.17 |
hCV2536455 |
CCAGGTGACATGGCAGGGTGGTGGCTGGAGGGCTGACCTC[A/G]TAGAGGGTGTTTCTGGTGTGCTGGATCCTAACCAGCTGGG |
C |
C |
C___2536456_10 |
|
|
phosphoinositide-3-kinase,
regulatory subunit, polypeptide p101 |
P101-PI3K |
Intron |
17 |
9000874 |
|
|
0.23 |
0.23 |
hCV2536456 |
|
#N/A |
#N/A |
C___2536457_10 |
rs392750 |
|
phosphoinositide-3-kinase,
regulatory subunit, polypeptide p101 |
P101-PI3K |
Intron |
17 |
9001257 |
|
|
0.16 |
0.14 |
hCV2536457 |
AGAGCAGCATATGTCTTGTGGTGGCACTGGCCTTTCATTC[T/C]AAGAACTCACATCTCCTCTGCCTGCATGAAGGCCTGCCCA |
A |
A |
C___2254159_10 |
|
|
phosphoinositide-3-kinase,
regulatory subunit, polypeptide p101 |
P101-PI3K |
|
17 |
9018465 |
0.3 |
0.07 |
0.31 |
0.25 |
hCV2254159 |
CCAGTCTGTGTCAGGACTTCTCTGAAAGCCCTCTGCCCTC[A/G]GCTTTGCGGAGAGAAGGAAGGATCTTCCAGATGGGCTGAC |
T |
T |
C__12118919_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9132065 |
0.28 |
0.23 |
0.14 |
0.39 |
hCV12118919 |
AATAGTTTCAGCCACTTTCTGGATTTTTTCAATACGTTCC[A/G]GTGAAGCAAAGGGATAGTGAACACTAGGGTGAAAAGAGAA |
T |
T |
C____374497_10 |
rs1525758 |
|
netrin
1 |
NTN1 |
Intron |
17 |
9161449 |
|
|
0.09 |
0.14 |
hCV374497 |
GAAGAAACAGCAGCCAAAGTATTACAGAATGGAAAATACC[C/T]GAGAAATCAATGAAAACGGGGAGATGAAGGAGTGTTCACC |
A |
A |
C____318865_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9201604 |
0.41 |
0.46 |
0.08 |
0.06 |
hCV318865 |
TTAAGTGATAAAAGCGCTTAACTGCATGAATAGTGTGCTT[T/C]CTATTTGTGTTCTGGTACAGGACAGATATGAATATATACC |
A |
A |
C____318864_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9201939 |
0.41 |
0.27 |
0.08 |
0.06 |
hCV318864 |
TCACGATAACGGTAGGAAGTCCTTGACTAAAACCCATTCA[C/T]TCTGCTCAATAGAATCATCTGATCTTCATTCAGAACCTAT |
G |
G |
C_____65586_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9226643 |
0.43 |
0.4 |
0.1 |
0.11 |
hCV65586 |
AGTGGAAACATACGCAAATAGAAAAAGGTCCACCAGGCAA[C/T]AGACACACCACAGGGTATTAACATCGTCACTCTGGCTGGT |
G |
G |
C____157983_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9233299 |
0.06 |
0.06 |
0.07 |
0.11 |
hCV157983 |
AAACAATCAGGCAAACAAGAAGGACCAGTGAGCAGAGGCA[C/T]TCAGACCAGAAGCCAGACGAAGACTCACAATTCAGCAGCT |
A |
A |
C___2593176_10 |
rs726598 |
|
netrin
1 |
NTN1 |
Intron |
17 |
9260054 |
|
|
0.44 |
0.49 |
hCV2593176 |
TGCAGGCCCCAGCCATTGGCTGCCTGCGCACTGGGACAGG[T/C]ACTGCTCTCAGATCTGTCATGATTGTTGACACATTTCCAC |
G |
A |
C__15870614_10 |
rs2072321 |
|
netrin
1 |
NTN1 |
Intron |
17 |
9266567 |
|
|
0.47 |
0.38 |
hCV15870614 |
|
#N/A |
#N/A |
C___2593208_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9280958 |
0.11 |
0.05 |
0.2 |
0.19 |
hCV2593208 |
CTGGTTTATGGAGGCAGCGGGCTGACTTGTGTTTCCCCAC[C/A]AGCAGATCATTGTTCTAGGAAGGGAGGCAATCAGGGTCCC |
T |
T |
C___2593214_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9285619 |
0.11 |
0.33 |
0.16 |
0.19 |
hCV2593214 |
CCATGAACCCCACTGACTCTAGCCACCATCTGATTCTTTG[T/C]GGTAAAACTCTGACTCCCTAGATTCTAGATGAGCTAGGAC |
A |
A |
C____321898_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9300606 |
0.41 |
0.33 |
0.38 |
0.41 |
hCV321898 |
TGTACTCAAGCAGAGACCACAAAACTGTGCAAATGACACT[C/T]GTCACACTCTTCTCTAGGAAGGCACTGACCTCTCTGGAGG |
G |
G |
C__12114824_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9319761 |
0.1 |
0.09 |
0.41 |
0.4 |
hCV12114824 |
GATCCAGAAACATGGAGAATAAATTGGAGAAACTCTTACA[G/A]AATTTAGAGGAAAAAGACAACCTACATATTTAGAAGGAAA |
T |
T |
C___7442820_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9327078 |
|
|
0.36 |
0.47 |
hCV7442820 |
TTTCCTGGCTTGGAGACGCACTTCCTTTATCTTAAAGTAA[C/T]TGCAAGTTTCATTTCTAAATCTAGGTTTATTTTCCCGTGG |
G |
G |
C___2593284_10 |
|
|
netrin
1 |
NTN1 |
Intron |
17 |
9335263 |
0.33 |
0.33 |
0.12 |
0.15 |
hCV2593284 |
CTGGGGGCCACAGCAGGGTGGGGGCAGAGCTGAGCGCTGC[C/T]GGATGAACTGACTCAGGGGTCAGGGCTTGCAAAGATGCCC |
A |
A |
C___2593285_10 |
rs3786003 |
|
netrin
1 |
NTN1 |
Intron |
17 |
9337719 |
0.17 |
0.27 |
0.15 |
0.2 |
hCV2593285 |
CCCCTGGGAGGTGGGCACAGTCAGGCCTGGCCTGTCCAGC[C/T]CTGGGTGTCTTTTCAGCTGCTGCTTCCCGCGTCCCTGGCT |
A |
A |
C___2593287_10 |
|
|
netrin
1 |
NTN1 |
|
17 |
9346402 |
|
|
0.5 |
0.45 |
hCV2593287 |
GCCAGCTCCGTTGCTGAGGTGGCCTCAGAGACCACCACAA[G/A]TGCAAGCCCCTCACAGGACACCCGTGAGACCCAGACCCAG |
C |
C |
C___2593288_1_ |
rs2277673 |
IMS-JST074679 |
netrin
1 |
NTN1 |
|
17 |
9346584 |
0.14 |
0.23 |
0.5 |
0.42 |
hCV2593288 |
GTGACGACCGTGCAATCCCAACAGTGACCTGGCTGCTAGC[A/C]TGGTGGATCTGGTCACCCTGACGCATTCCCCAAGGGCCAG |
G |
G |
C___2593289_1_ |
rs2302198 |
IMS-JST058495 |
netrin
1 |
NTN1 |
|
17 |
9348626 |
0.29 |
0.43 |
0.4 |
0.31 |
hCV2593289 |
TTCAAAACAGCTGGGTGCAGAAATTATAGCTTCCTAGTGA[C/T]GATCGGCCCCACTTTGCGTGGCAACACAATATGTTCCTAA |
G |
G |
C___7442809_1_ |
rs8974 |
IMS-JST008279 |
|
|
|
17 |
9354427 |
0.38 |
0.37 |
0.27 |
0.16 |
hCV7442809 |
CAACTGATGGCAGTAAAGAGACCACCAGCAGTGACACCTG[C/G]CAATGACAGATGCAAGCCCAACACCCTTTTGGTACGCAAA |
C |
C |
C___2593306_10 |
|
|
|
|
|
17 |
9364931 |
|
|
0.22 |
0.16 |
hCV2593306 |
TGCCCCGTCACCTGCAGTCTTCATTCCTTTTAATTTCCTG[C/T]TTCTAGACCAGTCCTTTTTTTCTCTCATCCCAACCCCCAC |
A |
A |
C___2593312_10 |
|
|
|
|
|
17 |
9372661 |
0.12 |
0.14 |
0.2 |
0.14 |
hCV2593312 |
TTGGGATCTTGTCCACTTGTTTTCAGTAGGCTCAGTAGTG[G/A]CATTGTTGAATCTGCCCACATTGCCTGCAGGTCTGTGTCT |
C |
C |
C___2593326_10 |
|
|
|
|
|
17 |
9378043 |
0.33 |
0.16 |
0.24 |
0.23 |
hCV2593326 |
TTATCTGTACCTTAAGAAGACCAAGTGAGGTTAACATGCA[A/G]AGGGGAGGGATGGCAAAGCCAGAGTAGGTGGCACATTTGA |
T |
T |
C___2593338_10 |
rs4791828 |
|
|
|
|
17 |
9395862 |
0.32 |
0.42 |
0.14 |
0.16 |
hCV2593338 |
GAGAAAATCCCACTTCTCCTTAGTTCAACTAAGGCAAGGC[A/G]GGAGGATTTGAAAGAGAACTTTTCCTTGGAAACAACACCA |
T |
T |
C__15975603_10 |
rs2315141 |
|
|
|
|
17 |
9433679 |
|
|
0.06 |
0.14 |
hCV15975603 |
AGCTGCCTTATTCCCTCATCTCTGCCTCTTTCCCTGCTCT[G/A]TCATGTCTGGCAGCCCTTGGCCAACTCTGTCCAGTTGCCA |
T |
T |
C___8717059_10 |
rs879687 |
|
|
|
|
17 |
9441200 |
0.09 |
0.26 |
0.03 |
0.08 |
hCV8717059 |
GTGGTCCCTAGGATTTTGAGGAGTATACTACTTGGCTCAT[C/T]CTCTATCCCAGTATGGACATTGAAATAAGTTATCAACCTC |
G |
G |
C___2860618_10 |
rs1549332 |
|
|
|
|
17 |
9443708 |
0.08 |
0.2 |
0.02 |
0.08 |
hCV2860618 |
CAGTATCCATGGCGCTTTCAAAGGTACATAATGTCTCTTT[C/T]GGTCCTTACGCCAATTCTGTGGGAAAGTTTGATTCCAGTC |
A |
A |
C___2860615_10 |
|
|
|
|
|
17 |
9444223 |
0.1 |
0.21 |
0.03 |
0.08 |
hCV2860615 |
TGTTCAGTGAAACAAATTTTTAAATGGCATTTTCCCAGAT[T/C]GACATTAGAGGACAAGTCTGTTTGAGAGGGCTATTAATTG |
A |
A |
C___2860614_10 |
|
|
|
|
|
17 |
9444459 |
|
|
0.04 |
0.08 |
hCV2860614 |
TTCACTGGAAAAATACAAAGCCTGCCTTTCAAGATAACTT[T/C]AGGATTCATAAGAGTAGATTTTCTGGAAAATCAGGAGTTG |
A |
A |
C___2860646_10 |
|
|
|
|
|
17 |
9465294 |
0.35 |
0.43 |
0.24 |
0.36 |
hCV2860646 |
GCAACGCCTGCAGTCCAGAGACTCTGCCCTTGTGACTTAT[T/C]TAATCTAATGCAGTAGACGCCCACTTGAAGCTGCACATGT |
A |
A |
C__16082870_10 |
rs2161869 |
|
syntaxin
8 |
STX8 |
Intron |
17 |
9473364 |
0.23 |
0.42 |
0.17 |
0.26 |
hCV16082870 |
CTTTAGAGCTACTTTTGTCTCTCAGAGAATTATTTTTAAT[C/G]TTTTACCACAAGAATAAGCAATTAATCTGGAACAAAGAAG |
C |
C |
C___1671172_1_ |
rs2305924 |
|
syntaxin
8 |
STX8 |
Intron |
17 |
9573008 |
|
|
0.06 |
0.03 |
hCV1671172 |
CACGCAAATGACCACCTTGGCTGAGCTGCCCAGCCTTCTC[C/T]TAGGTTGAGCTTTAACCATCTGTTGGAGGAGGAAAATTCC |
A |
A |
C___1671279_10 |
|
|
syntaxin
8 |
STX8 |
Intron |
17 |
9599600 |
0.14 |
0.3 |
0.13 |
0.18 |
hCV1671279 |
GCATCTCGATTATCTGAATCTTCTGTGTCTTTGGATTGTG[T/A]AATGAAAATTTACTGCAGCACTTAAAGATGTGGAGAGAAT |
T |
T |
C__12123243_10 |
|
|
syntaxin
8 |
STX8 |
Intron |
17 |
9602453 |
0.3 |
0.35 |
0.14 |
0.18 |
hCV12123243 |
GTAGCTAACCTTTGAACCCTTGCAGTCACAGCTTCACAGA[C/A]AACTTTCTTTGAAGATACCCTTTCTTGTAGCTGTCACCTA |
G |
G |
C___1671306_1_ |
rs2249929 |
IMS-JST063378 |
syntaxin
8 |
STX8 |
Intron |
17 |
9609160 |
0.29 |
0.43 |
0.14 |
0.18 |
hCV1671306 |
GAATACAGTTCCTGGCATAAACTAACGATGCAATAAATTG[G/T]GTTTGAATTGAATTTTCAAAGCATTCAAGGCTGGCCACCT |
A |
A |
C___1671307_1_ |
rs2305923 |
|
syntaxin
8 |
STX8 |
Intron |
17 |
9609210 |
|
|
0.14 |
0.18 |
hCV1671307 |
TCTGAGGACCAAGCTTGTGCCTTATTCATCCTTGTATCTC[G/T]TCCAGCACTGAATACAGTTCCTGGCATAAACTAACGATGC |
C |
C |
C___1671308_1_ |
rs2168859 |
|
syntaxin
8 |
STX8 |
Intron |
17 |
9609316 |
|
|
0.14 |
0.18 |
hCV1671308 |
GAACCTCATTTATTACCAACTTCTTTTAGGATTATTAACT[C/G]AAACATCTCTTGGAGGATTAGTACAAATATTATGTTCTCC |
G |
G |
C___1671213_10 |
|
|
hypothetical
protein LOC146845|syntaxin 8 |
LOC146845|STX8 |
Intron |
17 |
9687651 |
0.47 |
0.25 |
0.41 |
0.49 |
hCV1671213 |
TATGTTTTAATATGAAACAGACCCAGGTCCTCCATTATTG[C/T]TCACCTATGGTCAGAATTTTTTTGATTGCTCTTCGTGTTT |
A |
A |
C____690963_1_ |
rs418706 |
IMS-JST065713 |
hypothetical
protein LOC146845|ubiquitin specific protease 43|hypothetical protein
FLJ30626 |
LOC146845|USP43|FLJ30626 |
Intron |
17 |
9739215 |
0.11 |
0.13 |
0.41 |
0.43 |
hCV690963 |
CACTTGGGACTTCTGAAGGGATAGGAAAAGATTCCAAGAG[C/A]TTTTTCCCCTTTGCTATGCTTGATTTGTGTTTTTTTAATT |
T |
T |
C____690961_1_ |
rs274899 |
IMS-JST065715 |
hypothetical
protein LOC146845|ubiquitin specific protease 43|hypothetical protein
FLJ30626 |
LOC146845|USP43|FLJ30626 |
UTR
3 |
17 |
9747117 |
0.23 |
0.3 |
0.06 |
0.08 |
hCV690961 |
TAGTGTTGGAGTTATCTAAACTCAGTCTTCAACAGGACTG[C/T]GTGCAACGCCAAGGCTCAGAGACATCTCATCAGCTTCAGG |
G |
G |
C____690955_10 |
rs415432 |
|
ubiquitin
specific protease 43|hypothetical protein FLJ30626 |
USP43|FLJ30626 |
|
17 |
9766053 |
|
|
0.14 |
0.23 |
hCV690955 |
AGGGCTCTTTAATCAGGGGTCCTGCCCTCACCTACCAAGG[G/A]ATAGGCCCATGACCCAAGCAAGCCACACTGAGATGCTCCT |
T |
T |
C___1498172_10 |
|
|
ubiquitin
specific protease 43|hypothetical protein FLJ30626 |
USP43|FLJ30626 |
|
17 |
9790975 |
0.28 |
0.41 |
0.42 |
0.42 |
hCV1498172 |
GTATTTTGTAATGGCACAAAAGTAAAACACTACAGACTAT[G/A]AGATGGTTACTTCCTTGCAAATAAATCTAAGTCATTTTAT |
T |
T |
C___1834724_10 |
|
|
ubiquitin
specific protease 43|hypothetical protein FLJ30626 |
USP43|FLJ30626 |
|
17 |
9832813 |
0.02 |
0.08 |
0.3 |
0.33 |
hCV1834724 |
AGGTTTTCTTTCGACCTAAAGAAAGAGTGTGATATTTGAC[C/T]CTCTGAAAGGTGCCATAAGAAGCCTGCTCCCCTGGAACAG |
G |
G |
C____690921_10 |
rs435699 |
|
|
|
|
17 |
9864658 |
0.31 |
0.43 |
0.41 |
0.42 |
hCV690921 |
GACAAACTTTCCAGCATCCATAGAGGCAACTGAGGACACT[T/G]AGGGGCCTTCCTTCCAGCTCGGGAAAAAGGAGGATGAGTA |
C |
A |
C___1834708_10 |
|
|
|
|
|
17 |
9898388 |
|
|
0.23 |
0.26 |
hCV1834708 |
CATAAAGTCTAGGGAGTTTGAGTGGGTCAGGAACCACCTT[G/T]CAGGGTTGGCTCATGACACAGCCACATTTGTCAGAGTGGG |
A |
A |
C_____62890_10 |
rs2315577 |
|
|
|
|
17 |
9904863 |
0.45 |
0.24 |
0.33 |
0.4 |
hCV62890 |
CTTCGTGTTTGTGGCTCAAGGTGAGCACCTGCCTGACAAA[C/T]GCTGCTTCTGTGGAATTTTGTGTTTCATTGCGCTAAGCAT |
A |
A |
C___1834697_1_ |
|
|
glucagon-like
peptide 2 receptor |
GLP2R |
Intron |
17 |
9965097 |
|
|
0.24 |
0.2 |
hCV1834697 |
GGCATGCCTGGGAATTACCGGCTCGTGAAAGAATAACACC[C/T]GGTGAATTACCTACCCTGTGTTCTCCAGGTGTGCACGGGC |
G |
G |
C__12121071_10 |
rs3786121 |
|
glucagon-like
peptide 2 receptor |
GLP2R |
Intron |
17 |
9966668 |
0.19 |
0.06 |
0.48 |
0.44 |
hCV12121071 |
ACAACACGTAGTGTTCAGCACCTGGTGGGCACGCGAAGAT[T/C]ATGGTGGTGTGTCTAGGCAGGAATACTTTCCGCCTCCCTC |
A |
A |
C__15970147_10 |
rs2293102 |
|
glucagon-like
peptide 2 receptor |
GLP2R |
Intron |
17 |
9974505 |
|
|
0.06 |
0.18 |
hCV15970147 |
AGTTCCATCAGTTCAATGTAAACCAGGGGCAATTCAGCAG[T/A]TAGCTGGCCAGGTAGTAAATGCTTAGCTGTGATCTCCACT |
#N/A |
#N/A |
C__12119790_10 |
|
|
glucagon-like
peptide 2 receptor |
GLP2R |
Intron |
17 |
9976843 |
0.19 |
0.06 |
0.47 |
0.43 |
hCV12119790 |
GAGCCCAGGCCAGGCCAGCTCCCCAGGGCTACGGGTTTCT[A/T]GCAAAATGTTTGGACCAAAGCTCCAACTAGCAACTATAGT |
T |
A |
C___2588925_1_ |
rs2240737 |
IMS-JST012397 |
glucagon-like
peptide 2 receptor|recoverin |
GLP2R|RCV1 |
Intron |
17 |
9991725 |
0.11 |
0.18 |
0.27 |
0.19 |
hCV2588925 |
GTCTGAGAGTTACTGGCAACGTCCAAAGCCCTGCACAGGT[T/C]GTAAGGAGTCTCCAGAAGAGGCGTGCAACTGCATTGCTTA |
A |
A |
C__16179905_10 |
rs2286531 |
|
growth
arrest-specific 7|recoverin |
GAS7|RCV1 |
UTR
5 |
17 |
10009137 |
0.21 |
0.27 |
0.36 |
0.31 |
hCV16179905 |
ACCAGCATCTCGGTCTTCAGCTCACACCAGCCTTGAGCCC[C/A]GCCTGCGGCCAGGGGACCACGCACGTCCCACCCACCCAGC |
#N/A |
#N/A |
C___2588948_10 |
|
|
growth
arrest-specific 7|recoverin |
GAS7|RCV1 |
|
17 |
10012427 |
0.34 |
0.24 |
0.4 |
0.3 |
hCV2588948 |
GGAGCATAAGCTCTCCCTCTGATAGAAGATGTTTATGCAG[G/A]TTTTCAAACAAACCTCCAGGTCATGACCCCTCACTCTCAG |
T |
T |
C__15871674_10 |
rs2240738 |
|
growth
arrest-specific 7|recoverin |
GAS7|RCV1 |
UTR
3 |
17 |
10015130 |
|
|
0.06 |
0.13 |
hCV15871674 |
|
#N/A |
#N/A |
C___2588958_10 |
|
|
growth
arrest-specific 7|recoverin |
GAS7|RCV1 |
UTR
3 |
17 |
10015753 |
0.43 |
0.34 |
0.36 |
0.41 |
hCV2588958 |
AGGCTGAGTGTGACCCCTGAGGTAAACACTCCACTAAGCT[A/G]TGTCTTGTTCATGCCCCCTGCTCAGTGAAAGGTGAGTCCC |
C |
C |
C___7442133_10 |
|
|
growth
arrest-specific 7|recoverin |
GAS7|RCV1 |
UTR
3 |
17 |
10015977 |
0.42 |
0.32 |
0.36 |
0.44 |
hCV7442133 |
CCAAAGACAGTGCAAGTAATGACCGTTTGGATCTCATTCG[C/T]CGATCTTTGATAGTATGTTCTGGAGTCTACTCCCCAGGAG |
A |
A |
C____348696_10 |
rs1047365 |
|
growth
arrest-specific 7 |
GAS7 |
UTR
3 |
17 |
10019536 |
|
|
0.31 |
0.48 |
hCV348696 |
ACAAGCACAACTCACTGGTCTTTCAGTCAACGTGCTAGAA[A/T]CCGATGACTTATTAATCTCTAATTTTTTGGCGCCTCTTTC |
A |
A |
C___2588966_1_ |
rs2286532 |
IMS-JST037108 |
growth
arrest-specific 7 |
GAS7 |
UTR
3 |
17 |
10020844 |
0.48 |
0.35 |
0.44 |
0.3 |
hCV2588966 |
GACCCCCTGACTCCCATGCTGTGCTTGCCGCTCTGAAACA[A/G]ACAGAGGCTGGAACTTTGTGGTCCTTGCCGAGTTTTGTAG |
C |
C |
C___2588970_1_ |
rs2270123 |
IMS-JST024516 |
growth
arrest-specific 7 |
GAS7 |
Intron |
17 |
10022485 |
0.18 |
0.36 |
0.19 |
0.18 |
hCV2588970 |
AAGGGAGGCTGCTCAGCAGAGGCCCAGGGACAAGGTCCCA[C/G]GAATGTGTGGCATGGAGCTCCCACATGTGCCCCCTTGTTA |
G |
G |
C__15871675_10 |
rs2240740 |
|
growth
arrest-specific 7 |
GAS7 |
Intron |
17 |
10046931 |
0.03 |
0.23 |
0.04 |
0.1 |
hCV15871675 |
TGGCACCAGTGTTCCCCGGGGCCCCGTGGCCGGGGCGGGG[C/T]GACAGCACAGGACTCAGTACTGCACACTCAGCATTGGGCT |
A |
A |
C___2589026_10 |
|
|
growth
arrest-specific 7 |
GAS7 |
Intron |
17 |
10070407 |
0.4 |
0.31 |
0.45 |
0.48 |
hCV2589026 |
GCATGCAGACGAGTAGATTCACCATCCCTGCTGTCAGTTA[C/T]CACTCATGATAACTACACTTAAACATCAATAAATGAATAA |
G |
G |
C___2589027_10 |
|
|
growth
arrest-specific 7 |
GAS7 |
Intron |
17 |
10072141 |
0.35 |
0.49 |
0.47 |
0.49 |
hCV2589027 |
AGTCAGTAGCACACAGCTGGCCTATCGGTCTCCTTCTCTC[C/G]TCTGCTCATGTCACCCATCATGAATCAACCCTGGCTTTGT |
C |
C |
C__15885177_10 |
rs2277689 |
|
growth
arrest-specific 7 |
GAS7 |
Intron |
17 |
10073334 |
0.32 |
0.08 |
0.4 |
0.38 |
hCV15885177 |
|
#N/A |
#N/A |
C___7442113_10 |
|
|
growth
arrest-specific 7 |
GAS7 |
Intron |
17 |
10095687 |
0 |
0.06 |
0.06 |
0.05 |
hCV7442113 |
ATGCGTGAGCTGGCAGTGGGTTACCAGCACCTGTTGTCTC[G/A]GTGACAAGACATATTTCTCCAACATTGCAGTCAACCTTCC |
T |
T |
C___2179001_10 |
rs999338 |
|
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
|
17 |
10399395 |
|
|
0.26 |
0.14 |
hCV2179001 |
CCCAAACCTCATGCTCCTCATGCCAGGCTGGAAGAGAAGT[A/G]TTGGTCCCAGGGGAGAAGCAGTATATCTACACAAATAGCC |
T |
T |
C___2179007_10 |
|
|
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
Intron |
17 |
10409913 |
0.16 |
0.09 |
0.16 |
0.17 |
hCV2179007 |
TGCATTTACATTTTGGACCAAGCTTCACTTTGATCAACAC[A/G]GCCCATCCTACATAAAATCTGCAGTTTCCGTTTTCTCCCA |
T |
T |
C__11677612_10 |
rs751155 |
|
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
Intron |
17 |
10418385 |
0.47 |
0.5 |
0.36 |
0.42 |
hCV11677612 |
CCCAAGCCTGAACAAGTACTGAGAAGAGCCACTGCAGGAG[T/C]GGGCTGTCCTTTGGCAAGAATACAGCAACAGCTGAGTTTT |
A |
A |
C___2179036_10 |
rs2277644 |
|
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
Silent
Mutation |
17 |
10431983 |
0.18 |
0.21 |
0.49 |
0.43 |
hCV2179036 |
|
#N/A |
#N/A |
C___2179041_1_ |
rs2240579 |
IMS-JST012182 |
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
Silent
Mutation |
17 |
10437031 |
0.44 |
0.32 |
0.47 |
0.45 |
hCV2179041 |
TGATGGACCACTACTTGGTCATGCACCAGCTGCGCTGTAA[C/T]GGGGTCCTCGAGGGCATCCGGATTTGCAGGAAGGGATTCC |
A |
A |
C___7562325_10 |
rs933366 |
|
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
Intron |
17 |
10449995 |
0.26 |
0.24 |
0.07 |
0.14 |
hCV7562325 |
TATCTTTGTGAATAGGATAGTTCTCAAAGAAAGGTGAACA[A/G]CATGAGCTGGGCAAACACCTCATAAAATATTTAATATTGC |
T |
T |
C___2179064_10 |
|
|
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
Intron |
17 |
10460006 |
|
|
0.42 |
0.41 |
hCV2179064 |
ACACTGTGGGTGAAAAAGCAAGAAAACATTTTTTGTCCTC[G/A]AATTTGCGCACAGTGTCGTTGAGGACCAATTAAGCAGATA |
T |
T |
C___2179070_10 |
rs2024075 |
|
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
Intron |
17 |
10465118 |
0.4 |
0.27 |
0.13 |
0.19 |
hCV2179070 |
CTGAGACCTGTAGATGCTTAAAAATCATCTAATGCAATGG[C/T]GTCCAAACTTCTGTCATTTCTGTCTCACAATCACAATCCT |
G |
G |
C__15870564_10 |
rs2072265 |
|
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
Intron |
17 |
10465784 |
0.14 |
0.23 |
0.42 |
0.4 |
hCV15870564 |
|
#N/A |
#N/A |
C____345638_10 |
|
|
myosin,
heavy polypeptide 13, skeletal muscle |
MYH13 |
|
17 |
10482751 |
0.45 |
0.41 |
0.14 |
0.22 |
hCV345638 |
TACAGTTTGGGATGGGATAGAAGCAGACTGCACACAGAGA[C/T]AGCCACATCTAGATGGCATAGACAGGATTTCATTAGGTCC |
G |
G |
C___2179107_10 |
rs2024076 |
|
myosin,
heavy polypeptide 8, skeletal muscle, perinatal |
MYH8 |
Intron |
17 |
10510528 |
|
|
0.16 |
0.27 |
hCV2179107 |
GTCTTCTTTGATGTATTTCATTAACACTGTGAATTAGTAT[G/A]TATTAAAAAATTAAGAAGTCGAATAATATAGTCTTGTGGT |
T |
T |
C___2182997_10 |
|
|
myosin,
heavy polypeptide 8, skeletal muscle, perinatal |
MYH8 |
Intron |
17 |
10520940 |
0.49 |
0.43 |
0.14 |
0.23 |
hCV2182997 |
TTCCAGACCCCTTCCTTATTTAGTATTGCCAGAAGTCAAA[C/T]TAGTGACATCAAAAGCTGGGAAGAGGCCAGGAGGATATAT |
G |
G |
C__15885075_10 |
rs2277648 |
|
myosin,
heavy polypeptide 8, skeletal muscle, perinatal |
MYH8 |
UTR
5 |
17 |
10525546 |
|
|
0.16 |
0.26 |
hCV15885075 |
|
#N/A |
#N/A |
C___2183018_1_ |
|
|
myosin,
heavy polypeptide 1, skeletal muscle, adult|myosin, heavy polypeptide 4,
skeletal muscle |
MYH1|MYH4 |
Mis-sense
Mutation |
17 |
10556329 |
0.48 |
0.38 |
0.13 |
0.22 |
hCV2183018 |
ATCTGCAAGGCAAGATTGAAGATGAACAAGCCCTTGCAAT[G/A]CAGCTACAAAAGAAGATCAAAGAATTACAGGTAAGTTATA |
T |
T |
C___2183024_10 |
|
|
myosin,
heavy polypeptide 1, skeletal muscle, adult|myosin, heavy polypeptide 4,
skeletal muscle |
MYH1|MYH4 |
Intron |
17 |
10562444 |
0.43 |
0.42 |
0.13 |
0.21 |
hCV2183024 |
GTGTATGTGTGAACCCTACCCTAAGCAGTGGGAAAGGAAG[A/C]GTAAATGCAATTGCCACCTAGGAAAACTTAAAATACTCAG |
G |
G |
C____346924_1_ |
rs3744563 |
|
myosin,
heavy polypeptide 1, skeletal muscle, adult|myosin, heavy polypeptide 4,
skeletal muscle |
MYH1|MYH4 |
Intron |
17 |
10600463 |
0.49 |
0.35 |
0.14 |
0.22 |
hCV346924 |
AAATCATTCTTATCTCTAGAATACTACACACTTCCATTAC[T/C]CTACTAATGTCACCTCTTGCTGTCATTAAGGCATCTCTTG |
A |
A |
C___7562286_10 |
|
|
myosin,
heavy polypeptide 1, skeletal muscle, adult|myosin, heavy polypeptide 2,
skeletal muscle, adult|myosin, heavy polypeptide 4, skeletal muscle |
MYH1|MYH2|MYH4 |
Intron |
17 |
10618841 |
0.44 |
0.35 |
0.14 |
0.22 |
hCV7562286 |
CCACTGAATACATGACACTTATACTCAAATGCCCTGTTTC[A/C]CTATAGAAAGTTTTGTTTGTGTAACTGATACATATGCTGA |
T |
T |
C__11677388_1_ |
rs2277651 |
IMS-JST074656 |
myosin,
heavy polypeptide 2, skeletal muscle, adult |
MYH2 |
Intron |
17 |
10633204 |
0.38 |
0.32 |
0.17 |
0.23 |
hCV11677388 |
CAGCAACTTGATGAAAAGCTCAAAAAGTAAGTAAGAAAGA[A/G]TTGCTTATGGATTTGCTTCCAACATTAGATACGGACTAAA |
T |
T |
C___2183096_10 |
rs3760431 |
|
myosin,
heavy polypeptide 2, skeletal muscle, adult |
MYH2 |
|
17 |
10652879 |
0.46 |
0.37 |
0.14 |
0.21 |
hCV2183096 |
ATAATGTCCAACAATGTAAAATGGAAGTAAGACAATCCTT[T/C]CTTTAAACTTCTTAAAGCCCTTGTAAAAAGTCACCTTACA |
A |
A |
C___2183097_10 |
|
|
myosin,
heavy polypeptide 2, skeletal muscle, adult |
MYH2 |
|
17 |
10653856 |
0.45 |
0.36 |
0.14 |
0.22 |
hCV2183097 |
CGTGAAATATGCGAAAGTGATGCGAGGCAAGCCCGAATGC[C/T]GTGCCCAGCAAAGCCAAAAAGAAGTTCCGAGGGAAGCCAG |
A |
A |
C__16175856_10 |
rs2239936 |
|
myosin,
heavy polypeptide 3, skeletal muscle, embryonic |
MYH3 |
Intron |
17 |
10735915 |
0.17 |
0.27 |
0.42 |
0.44 |
hCV16175856 |
|
#N/A |
#N/A |
C___2537945_1_ |
rs2285476 |
|
myosin,
heavy polypeptide 3, skeletal muscle, embryonic |
MYH3 |
Intron |
17 |
10742458 |
|
|
0.42 |
0.36 |
hCV2537945 |
CACTGCAGGAGTAATTACCATGTTGGGGCAGAAAAAATTC[A/C]TGTGAAAGGAAATTTGCAGTATTCATTGGAGGGGAGTCTA |
T |
T |
C___2537889_10 |
rs201606 |
|
myosin,
heavy polypeptide 3, skeletal muscle, embryonic |
MYH3 |
|
17 |
10767297 |
0.16 |
0.44 |
0.4 |
0.35 |
hCV2537889 |
TCTCGAGCACTCTTCCTGCTCCACAGGGCCCCACATGAAT[G/A]CCTCTTCACAGAGTGCCCTAGCATTCCCTCCCTGGGGCCA |
C |
C |
C___2255146_10 |
rs201622 |
|
SCO
cytochrome oxidase deficient homolog 1 (yeast) |
SCO1 |
|
17 |
10778600 |
0.42 |
0.39 |
0.5 |
0.47 |
hCV2255146 |
CCTCCTGGTCTCAAGAGGTCATACCAAGGGCCTTGGCCAC[C/G]AAGGTTTCGTGAGGACCTTGAGGTGGTTTCGCCATCACAA |
C |
C |
C___2537881_10 |
rs201621 |
|
SCO
cytochrome oxidase deficient homolog 1 (yeast) |
SCO1 |
|
17 |
10778812 |
0.09 |
0.08 |
0.26 |
0.34 |
hCV2537881 |
AGCAGCAGCTGGTCGTTGTCAGTCAAGCTCCGGACCACTC[C/T]GATGATGCTCACTGCATTTTGATGGAGTAAGCCAGGGACA |
G |
G |
C___2537872_10 |
rs1509112 |
|
SCO
cytochrome oxidase deficient homolog 1 (yeast)|x 006 protein |
SCO1|MDS006 |
Intron |
17 |
10799200 |
0.42 |
0.39 |
0.48 |
0.49 |
hCV2537872 |
AGATGAGTAAGATGTAGTCGAGCCTTTGAGGTGCACACGG[A/C]AGGGAAACAGACACAGAAGTAAAGTATTTTACTAGATGCG |
T |
T |
C___2537871_10 |
rs2520161 |
|
SCO
cytochrome oxidase deficient homolog 1 (yeast)|x 006 protein |
SCO1|MDS006 |
|
17 |
10803987 |
0.42 |
0.43 |
0.47 |
0.48 |
hCV2537871 |
ACTATTGTAACAGAGGCTCCTAGCCTAAGGGTGCAGCATA[T/C]GTTTTCTACGCAGATACCATACCAAAAGGAAAGTTAAGTT |
G |
G |
C___2255129_1_ |
rs406446 |
IMS-JST044990 |
x
006 protein |
MDS006 |
UTR
3 |
17 |
10815008 |
0.41 |
0.45 |
0.37 |
0.31 |
hCV2255129 |
ATCAAGTTAAAATAAATTAGACTAACAATGGAAGGCTCTT[C/T]CTTTCTTGTAATTCATAATTCTATCTGGAACTCTGCCTCT |
G |
G |
C___2255086_10 |
rs424811 |
|
|
|
|
17 |
10826608 |
|
|
0.47 |
0.49 |
hCV2255086 |
GGTGAAGGGAAATGATCTCAGGAGGAAACTTAGAGATTCA[C/G]GAAAGAATGAAGAGCAAAGACAATATAAGTGCGTGTGTAC |
C |
C |
C___2255081_1_ |
rs377366 |
|
|
|
|
17 |
10830535 |
|
|
0.37 |
0.31 |
hCV2255081 |
GATGGTCCATTGGGTCCAAAGCCAGCAGGGCCATCTAGCA[C/T]CGTGGCTGCTCCTGCCCTACTTTTCAAAGAACATTTTCTT |
G |
G |
C___7442686_10 |
rs930525 |
|
|
|
|
17 |
10895821 |
0.12 |
0.27 |
0.27 |
0.34 |
hCV7442686 |
GAGGTAATAATAATGACATCACAATCACAAGTGATCCAGC[G/A]CCAGTCTTCAGGACTTCTGCAGCCTCCTGAATTGGCAAAT |
T |
T |
C__12118131_10 |
|
|
|
|
|
17 |
10896273 |
0.41 |
0.33 |
0.23 |
0.27 |
hCV12118131 |
ACAAGCAAGCGAGCAGGTCAGCAGCTGTGGAAGTGAGGCA[C/T]GCTCATACTGCAGAGTCATGCACCTTTCCCCCTCGGGCCT |
A |
A |
C___9244486_10 |
|
|
|
|
|
17 |
10926449 |
0.2 |
0.3 |
0.21 |
0.3 |
hCV9244486 |
GGACAGAACCAGCTTCCGTGTTTTAGGCTCACTAGATTGT[A/C]TCATGCTCCCCATGGCTATTCTGTTTGGGAGAATTTGATC |
T |
T |
C___9244479_10 |
|
|
|
|
|
17 |
10927724 |
0.25 |
0.09 |
0.14 |
0.1 |
hCV9244479 |
TTTACTTCATCCCTCTCTTTCCCGGCTTCCCACCTCTTCA[C/T]CAAGTGCCTAGCGCAGCTTCTCCTGGAGGCACATTGAGGG |
A |
A |
C___9244451_10 |
|
|
|
|
|
17 |
10941174 |
0.4 |
0.33 |
0.32 |
0.41 |
hCV9244451 |
GACAAAGACGTGGCTCAGTCAGGCAACTGTGTGCCGTGAG[A/G]ACCCTGCATCCGGGTAAAGCCAGCCGTGGTCACACACGCA |
C |
C |
C__11445512_10 |
rs1860300 |
|
|
|
|
17 |
11335253 |
0.49 |
0.34 |
0.48 |
0.33 |
hCV11445512 |
CTGACTATCTTAAGAGTAAGATTGTATTACATCATCAAAT[T/G]ATTGAAAGTTTTGTGGGGTTTTCTTTTCCCTTCCTGACAT |
A |
A |
C___7561735_10 |
rs1558216 |
|
|
|
|
17 |
11348734 |
|
|
0.19 |
0.21 |
hCV7561735 |
GAGGCTGTTCTCACTGAAACTCCCTCAGACTCAGCCCCTG[T/C]CTGCCCACCTATCATCTTCAGGGGGAAGCACACACTGAAA |
A |
A |
C___2180878_10 |
|
|
|
|
|
17 |
11355005 |
0.12 |
0.47 |
0.17 |
0.25 |
hCV2180878 |
AGTATCACTGACTCCATTACATTCAGGAAGGTGAGACCCA[A/G]CTGTTCTACTGGACTTGAGAGAGAGAAGGGCACCAGCAAT |
T |
T |
C____329127_10 |
rs1122642 |
|
|
|
|
17 |
11365226 |
|
|
0.19 |
0.22 |
hCV329127 |
AGAGAGGGGTGTACAGCAAAAGGTGTTTCTCAAACAAGGG[C/T]TGCCTGACAGGCTACCTAAGGATGGGAACCCTGCCACATG |
G |
G |
C___2180892_10 |
|
|
|
|
|
17 |
11373581 |
0.09 |
0.21 |
0.19 |
0.22 |
hCV2180892 |
GGGCTCCAAAACCTTATGAGGCTATCATCTCAGACTCCTC[T/C]AGAACAACAGTTCTGTTTCTTTGGGGATGACTGAGAAAAG |
A |
A |
C___3265786_10 |
rs205060 |
|
|
|
|
17 |
11493077 |
0.46 |
0.31 |
0.4 |
0.26 |
hCV3265786 |
TGGGCCAATGGTAGCAGGCCCACAAACAAGCATTAAACAG[A/G]GATATGAGTGAGTCTCCTGAGGGCAAATGTGGTGGTGCTA |
C |
C |
C__11445391_10 |
rs1877644 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
|
17 |
11543174 |
0.15 |
0.44 |
0.09 |
0.09 |
hCV11445391 |
CGTAGATGTACGTTATTCTAGCATTCTGAAGTGGACACTA[C/T]TGATGACCCACCCAGAGTCCTCCGACCCCCTTGACCGCAT |
A |
A |
C___2684522_10 |
rs1513749 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
|
17 |
11543580 |
0.33 |
0.23 |
0.31 |
0.5 |
hCV2684522 |
AAGGGAAGAAGAGGGTGGAAGGAAGGACTTATGTTTCTCA[A/G]GTTCTACTAAATGCAGGGTAATTTTTTTTACCTGCTTTAT |
C |
C |
C___2684443_10 |
rs973358 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
|
17 |
11594462 |
0.44 |
0.45 |
0.16 |
0.3 |
hCV2684443 |
CTGCACTTCTCCAGAACGTAGTAGCGCATGTGGGCTCAGA[A/G]ACCGCTGGAGCAGAGTGTGAATAATGGGAACTGCTTCTGA |
T |
T |
C__11683292_10 |
rs2193112 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
|
17 |
11635330 |
0.37 |
0.5 |
0.37 |
0.48 |
hCV11683292 |
ACAGACCAACAGAAGAGCTGCCATCCTAACCCTCACTAAC[C/T]GTATCTGAGCTGTTTCTTTGTTTATCAGTACTAATTCCAA |
G |
A |
C___7561493_1_ |
rs1030055 |
IMS-JST008577 |
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
|
17 |
11659578 |
0.33 |
0.25 |
0.1 |
0.23 |
hCV7561493 |
AAGAAAAGGGAGGGGTGTTTTGTATTAATGAGGACCATGT[C/G]TGTGGCAGGTGTGCTTTCTGCCTCACCCCTGATTCGAATC |
G |
G |
C___2684367_10 |
rs2874641 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
|
17 |
11660830 |
0.47 |
0.33 |
0.31 |
0.26 |
hCV2684367 |
CTCCTAAGCTCACACTGCTCTCTGTACCCTTGAATTTGCC[C/T]GGAACTTGCATGCTACAAGCCTACTTGGACTTGCATGCTA |
G |
G |
C___2179454_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11731278 |
0.31 |
0.33 |
0.12 |
0.15 |
hCV2179454 |
TTTCTAGGAAATACTTCGTACCATTTTAAAAGGTAGATGC[A/G]TTGTGATATGTTTGATTACATCAGAAACCCAGATGATAAT |
T |
T |
C___2179449_1_ |
rs3744575 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11736659 |
0.17 |
0.18 |
0.23 |
0.16 |
hCV2179449 |
AGAATAATTAATAGTTGCAGGAACAGAACAGGTGGAAAGG[C/T]ATCCATATCATCCTCTGATGAGGGCCGGGGGAGTATCCAG |
G |
G |
C___2179423_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11767886 |
0.4 |
0.48 |
0.33 |
0.22 |
hCV2179423 |
CGTAACTTTTCTAGATGATTCATATTTACCTCTTCAGGGT[G/A]TATTGCCATGTTATAAATCTCCCTGGATTTAAACAATCTC |
C |
C |
C___2179421_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11770034 |
0.38 |
0.33 |
0.21 |
0.1 |
hCV2179421 |
TAAGGTGGACACCACCAGTGCTGGTCCGTAAGAGCCAGTT[A/G]TCCAGACTTGGTGCCCGTGTTCCATGCCCCATTGGCTTGT |
C |
C |
C___2179413_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11810959 |
0.38 |
0.31 |
0.34 |
0.25 |
hCV2179413 |
TCAGTGGAATTAAAATATCATTTCTCCCATGCATCATGAC[T/C]TATTGTTCTGCCCTCACTGTCCTTTACCTGTGTTGTGCTG |
G |
G |
C____314593_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11829813 |
0.11 |
0.07 |
0.15 |
0.13 |
hCV314593 |
GCAGAGAACATGAGCAGAGCATTGTTATGAGAGGATTGGT[C/T]TAACTGCCACATAGGCTAGGTTGGACATTAGGGCAGACTT |
A |
A |
C____334428_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11846550 |
0.18 |
0.4 |
0.08 |
0.03 |
hCV334428 |
AACGCCAAGCAACTATGAGAAGCTCAAAGCTGGTTAACAC[T/C]TAACCTGCTTCCCTAACCCTCCTCATCTATGCCCCTTCAG |
A |
A |
C___2179376_1_ |
rs3744581 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Mis-sense
Mutation |
17 |
11851623 |
0.22 |
0.19 |
0.26 |
0.41 |
hCV2179376 |
AATCCCACTCTTACCATCCTTCCATTCTCCTGTGGCTGGA[C/T]TGATGATGCCAAAGAGCTCATCATTTGTGACTGCTTTGGG |
G |
G |
C___2179373_1_ |
rs3744583 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11857031 |
|
|
0.42 |
0.45 |
hCV2179373 |
TATAATAATGCCAAAACTGGTGTGAGCCATGGCAGTACCA[C/T]TGATGTAAGCAAAAGTTGCTGCTGGGAATTTATCAGTGCA |
G |
A |
C____342100_1_ |
rs2277657 |
IMS-JST074662 |
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11867240 |
0.45 |
0.41 |
0.49 |
0.41 |
hCV342100 |
TCCATTCTGGTGGTGCTGTTGGACAGCTATGGAACCACTC[G/A]GTTTCAGTGGACTCATGGTCCGTCAAGTTCTTTGGGATTA |
C |
T |
C___7561421_10 |
rs2011461 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11876696 |
|
|
0.23 |
0.33 |
hCV7561421 |
AACATATATGCTGCTACTCTGGGCTTCGGCTGACTCCCCA[A/T]TTCCTGGTTGCCTCTGGACAGGAGAGGTTATGGAACAGTA |
A |
A |
C___2585808_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11890597 |
0.4 |
0.49 |
0.32 |
0.43 |
hCV2585808 |
CCACAAGGTGTACTCTTTCCTCCGGAAGCCTTTTGTCACC[G/C]TGAATTACCTCCACAGCAGTGCTGAACATTCTAGCTGTTC |
G |
G |
C___2585814_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11900206 |
|
|
0.37 |
0.44 |
hCV2585814 |
GACAATAACAAAAATGCTCAGACATTTGGATAAGATGTAA[A/G]CGCAGTGCAGGAGGACTATTCTTGCTATTAGGAAAACACA |
C |
C |
C___2585834_10 |
rs1859888 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11912289 |
0.31 |
0.35 |
0.38 |
0.44 |
hCV2585834 |
|
#N/A |
#N/A |
C___2585841_10 |
rs917301 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11918913 |
0.34 |
0.48 |
0.41 |
0.33 |
hCV2585841 |
TTTGAGGGCACAGCCAGTGAGCAGATCTAATGAGTCCACT[G/A]AGTATGTCTTAGAGGATCAGTGCATGCTTGATGGTTGCTT |
T |
T |
C___2585846_10 |
rs717788 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11920238 |
|
|
0.4 |
0.32 |
hCV2585846 |
AAATGTCAATTATGGGCTGGGAGATGTATTAAGAGCTGAC[T/C]GTATAAACGATGAAAAACAAGACTCTGCACAGAGTAATAG |
G |
G |
C___2585879_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11939897 |
0.45 |
0.49 |
0.32 |
0.48 |
hCV2585879 |
TTCAAAAAGACTACTCAGTGAGCTTAATATGTTTCTCCTG[C/A]AGTTTGACTGGCACGGTGGACTGGGGTCTAACTTACATCC |
T |
T |
C__11445303_10 |
rs3967 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11954612 |
|
|
0.17 |
0.24 |
hCV11445303 |
GTAAAGATCTTGTTTGGTTAAGCATGGGCCCTCAAGTCAA[C/T]TCTCATGGGGCAGGCAGATAGAGCAGCGTGGTGCTAATAG |
A |
A |
C___2585893_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11962241 |
0.45 |
0.19 |
0.08 |
0.25 |
hCV2585893 |
AAATATTGGCAATTAATTAAATCATCTGCAAATAGACTGC[G/A]TGGGCCAACTGGAACACAGTTGAGCTGCTAGGTAGCAGGC |
T |
T |
C___2585907_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Silent
Mutation|UTR 5 |
17 |
11987517 |
0.47 |
0.19 |
0.47 |
0.41 |
hCV2585907 |
CCAGAGGCGGAGGAGAGGCGAGAGAGAAGACTGTCTTCCA[A/G]CGTTTTCAGGGTAATTTTGAATCCATTCTGCTGCTTTGTG |
T |
C |
C___2585917_10 |
rs4792191 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
11999074 |
0.24 |
0.3 |
0.44 |
0.5 |
hCV2585917 |
CAGGATCTGTGAATTGCAGGCATAGTACCTACTGAAAGAA[C/T]CTTATAGTTTGTGATCTTTTCAACACTCATAGAATCCCAG |
G |
A |
C__11445301_10 |
rs2058038 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
12009940 |
0.11 |
0.4 |
0.27 |
0.4 |
hCV11445301 |
CAGAAAGATTGCTCTGGCAAGATAAGGGGATGGGTGAGGC[A/G]GAGTGGAGGGGACGAGGCCTCCTCATGAAACTGGGACTGT |
T |
T |
C___2961991_10 |
rs1859886 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
12029582 |
0.32 |
0.48 |
0.26 |
0.24 |
hCV2961991 |
GTTGGAGAGCTCTGAGCAACCACATCAGCACAAGATTTTG[A/G]TGCCCTGCATGGCCAATAGATGCTGGGGGACAACGGGGGC |
T |
T |
C___2961984_10 |
rs3785944 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
12040106 |
0.38 |
0.1 |
0.24 |
0.23 |
hCV2961984 |
|
#N/A |
#N/A |
C___2585944_1_ |
rs2240521 |
IMS-JST012112 |
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
12041094 |
0.44 |
0.43 |
0.49 |
0.38 |
hCV2585944 |
TCCTCCAGGGGACACTGCTCACCATCCCTGGTTGACTTCA[G/T]CACCCTCTCCACCTATTAGTGCACCTTGACATCATCCATT |
C |
C |
C___2585954_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
12050920 |
0.44 |
0.32 |
0.49 |
0.37 |
hCV2585954 |
TTTTGTGTGCTTTGAGCTCCTGTAGTCCTCAAGGCTTTCA[G/T]TGCTGTGCTTTTCAGTAGCTAATACTTTTTAGGTAGACAT |
C |
C |
C___2594004_10 |
rs1990236 |
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Mis-sense
Mutation |
17 |
12066028 |
|
|
0.22 |
0.13 |
hCV2594004 |
ACTCTTCTCTGTTCTTCTTCGTCATGTCACATTGCAGGGC[C/T]ATCTGGTCCAGTGGCCACTCATTCTTGCGAGCCGTGGACT |
A |
A |
C___2594007_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
12067647 |
0.43 |
0.09 |
0.24 |
0.14 |
hCV2594007 |
ATGGAATGAATGAATACATTTCCTACTGCTAATATACTCC[G/A]TGAGACTTTACTTGCTATATCCACTAGAATGGTAAGCATT |
C |
C |
C___2594011_10 |
|
|
dynein,
axonemal, heavy polypeptide 9 |
DNAH9 |
Intron |
17 |
12072140 |
0.47 |
0.25 |
0.49 |
0.38 |
hCV2594011 |
TAACAGAATTAAGGTAAACAGTGGGGACCTCCTTGCCCCA[T/C]AGAGATGAATGTGTATGGCAAGGAATAGGAACAGAGGTAG |
G |
G |
C__11682872_10 |
|
|
|
|
|
17 |
12106917 |
0.33 |
0.44 |
0.19 |
0.16 |
hCV11682872 |
AATTCTCTGTTCTCTCAATAGTCCTTAAAAGACAATTCAG[T/G]TTCCTTCTGCCATGAGTTAAATCACTCTTTGCTCTATTGA |
A |
A |
C___2594049_10 |
rs1001505 |
|
|
|
|
17 |
12111963 |
|
|
0.2 |
0.16 |
hCV2594049 |
ATGGGGTTTCTGTTTGGTGCCTTGGCTACATGCTGCTGCT[G/T]CTTCGTATCTCCACGGGCAACCCGAGGCACTCTGCAGTGG |
C |
C |
C___2594054_10 |
|
|
mitogen-activated
protein kinase kinase 4 |
MAP2K4 |
|
17 |
12117864 |
0.43 |
0.29 |
0.41 |
0.3 |
hCV2594054 |
AAATGAAATATATGTTCATTTCAAGAGGAGTTACCAAAAC[A/G]TGAACTCTCGTGACCATCTGTCAGTCACTTTTGGTCCCAG |
T |
T |
C___2594105_10 |
|
|
mitogen-activated
protein kinase kinase 4 |
MAP2K4 |
Intron |
17 |
12184905 |
0.23 |
0.07 |
0.18 |
0.15 |
hCV2594105 |
TCATTTCTAAATATAAGATCTTATTCAAACTTGGATGATG[G/A]TTTATCCAAACAGCATTATCAAGTGAGAATCCCAAGAGCT |
T |
T |
C___2594106_10 |
|
|
mitogen-activated
protein kinase kinase 4 |
MAP2K4 |
Intron |
17 |
12186070 |
0.26 |
0.13 |
0.21 |
0.19 |
hCV2594106 |
CCACCAGTTCTTTACAGGTACCAGCATAAGCTTGCCAGGT[G/A]TTGTCTATGGATCAAATCTCTGTTTCTGGCCATTTTTTTT |
C |
C |
C___2587810_10 |
|
|
mitogen-activated
protein kinase kinase 4 |
MAP2K4 |
Intron |
17 |
12238374 |
0.31 |
0.22 |
0.48 |
0.45 |
hCV2587810 |
TTCATCTTTTTAGCCCTTTATTCTTAAAGATTAACTAAAC[G/A]GTGTTACTTACAGATCTGGTTAACCTGCAATACTCAATCT |
T |
C |
C___2587808_10 |
|
|
mitogen-activated
protein kinase kinase 4 |
MAP2K4 |
Intron |
17 |
12244343 |
0.26 |
0.15 |
0.26 |
0.19 |
hCV2587808 |
AGTATGTTGACTAGATATTTTTACAGTCATTGGTGGACTG[T/C]GATATAAGTTTGTCACAACATCCTTGAAGAGCTAGTAGTT |
G |
G |
C___2587960_1_ |
rs2240554 |
IMS-JST012155 |
|
|
|
17 |
12465043 |
0.45 |
0.45 |
0.41 |
0.4 |
hCV2587960 |
TTAATTGCAACACAAAACTGTTGGCCTGTGCTCAGACATC[A/C]CAGTTGGCTGTCCCTGAGGCATTATCATCTGCTCCCAACT |
T |
T |
C___2271997_10 |
rs758188 |
|
hypothetical
protein FLJ34690 |
FLJ34690 |
Intron |
17 |
12704510 |
0.3 |
0.48 |
0.49 |
0.38 |
hCV2271997 |
TTCTGTCTGTATGACCACTTTCAGTTAAATTGTCACTTTG[A/C]TGAAGGACATAGTCCAAGCAGAATACAATGATACATTTAT |
T |
G |
C___2585392_10 |
|
|
myocardin |
MYCD |
Intron |
17 |
12800594 |
0.17 |
0.06 |
0.37 |
0.48 |
hCV2585392 |
ATGAAAGAAAACTCTAAACCTAACCAAAGGAAAGAACATA[A/C]CCTTAAGGCAACAGTATGAACAAAGGGAACAGGCCTTTCT |
T |
T |
C___2585402_10 |
rs1233855 |
|
myocardin |
MYCD |
Intron |
17 |
12813629 |
|
|
0.37 |
0.47 |
hCV2585402 |
CTCTGTCCTAATGCCACGAGAATGTAGAGAACCTTGATGT[C/T]CTCTTGCAACCTTGAGCCCAAAAGGGTGGGATAGTGAAAC |
A |
A |
C___2585409_10 |
|
|
myocardin |
MYCD |
Intron |
17 |
12820482 |
0.43 |
0.29 |
0.43 |
0.5 |
hCV2585409 |
AATCCATCTAATATAACATGACAACGTATGCCTCTTTCCC[G/A]TTATTCGCTTGACTTCTCTTTTAGGACATGTGAAAATGTA |
C |
C |
C___2585410_10 |
|
|
myocardin |
MYCD |
Intron |
17 |
12827736 |
|
|
0.43 |
0.4 |
hCV2585410 |
TTTTATAATAAACTTAGTTTTGGATAAAATGCCCTTACAC[C/A]TACTTTTTGACAATGTGTCAAAACATTTAAATATACACTG |
T |
G |
C___9857595_10 |
|
|
myocardin |
MYCD |
Intron |
17 |
12835357 |
|
|
0.05 |
0.07 |
hCV9857595 |
TTGTTTTTGGTAGGAGCATCTGTTTGTCTCAAGTTTAACA[A/T]CATCAAAAATAAACAGACCACCCGGGAGGCAGTTTATCCT |
T |
T |
C___2585426_10 |
|
|
myocardin |
MYCD |
Intron |
17 |
12843558 |
|
|
0.38 |
0.42 |
hCV2585426 |
CTTTTCAGGGCTACTTCCCTTGCATAAAATCCAACTGCTG[T/C]ATACCTATTTTATGAAACTTGCAAATCCTGCCTTACAATC |
G |
G |
C__11445028_10 |
rs1984661 |
|
myocardin |
MYCD |
Intron |
17 |
12851343 |
0.45 |
0.5 |
0.36 |
0.24 |
hCV11445028 |
TGGCTAATTCTTACTGATGGAAATGGATGACTTTTCTCTC[G/A]GTTGTCCTGCTGGTACCCGCGACTTGACTTTCCCAAACTG |
C |
C |
C___2585435_10 |
|
|
myocardin |
MYCD |
Intron |
17 |
12855647 |
|
|
0.33 |
0.4 |
hCV2585435 |
AATGACCAGCTGAATAATAGTCGTATACTGAGAGAGTATG[C/T]GGCGATAAGACCATCAGTTCAACTCCTGGCCCTGTCTGTT |
A |
A |
C__11682361_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
12902966 |
0.1 |
0.23 |
0.21 |
0.28 |
hCV11682361 |
AAGAAATCCAAATGAAAATAGCTTAAATCTAATTACTGAC[C/T]GGGGTAGGGAGAGACTTCCTCTGGGGCAAAACTTGTCAAA |
A |
A |
C__11682349_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
12937332 |
|
|
0.09 |
0.07 |
hCV11682349 |
ACAGAAACATCCTTGGGGAAATGTGAATTCTATAAAGTAC[A/G]AAAGGAAAAAACAAAAACAAAACACACGGAAAAGAGTCAA |
T |
T |
C___3266159_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
12954447 |
|
|
0.09 |
0.2 |
hCV3266159 |
TGGAGCCCCTGGGCCCTCTCTCCACTCCACCCCATGGTGA[C/T]GTGGAGGCCAATGGAGAGGTGAACTTTGCCAGAGCAAGAG |
G |
G |
C___3266156_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
12959672 |
0.38 |
0.26 |
0.28 |
0.22 |
hCV3266156 |
ACAAGAACATCTTCCATTTAGTGCCAGAGCTCTGCTAGAC[G/A]CTTCATCACACAAGTGTTTCTCAAATCTTCAACATTAATC |
T |
T |
C__11682344_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
12964314 |
0.34 |
0.49 |
0.41 |
0.33 |
hCV11682344 |
GCTTCCCTCTGAAGGTCACAGCTTTTGAAGAAAGAGGAAA[C/T]ACCAATAAATGGAACAGCCAAAATCCATGGATAGAGGGTG |
G |
G |
C__11682342_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
12964688 |
0.36 |
0.49 |
0.4 |
0.32 |
hCV11682342 |
AACCATATACCGATTGGTCCAATTTGATTCACCTGCTCTG[C/T]GTGAATCAATGATTTTGGCTAGACCCAAGTCACATCCCTT |
G |
G |
C___2182930_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
12977303 |
0.28 |
0.24 |
0.08 |
0.05 |
hCV2182930 |
ATCATTAGAGCAATTATTGACTTCTCCCTAAAGCTCTTCA[T/C]ATAACACTAAGCTGTATATAAACCTAAGTACAGAAATACT |
G |
G |
C____441019_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
13002678 |
0.06 |
0.04 |
0.05 |
0.06 |
hCV441019 |
CACTGTGTGTCTTCTCTAGTAAGAGAAGCCAGATAGTGTA[C/T]GTCCTCGCTGGTGAATCATGGCCAGTCATAGCAAACCCAT |
A |
A |
C__25611431_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
13012909 |
|
|
0.49 |
0.27 |
hCV25611431 |
ATTCAGGTGCTTCCCTGAGAGGGTCTAGTCCCCTTTTCAC[A/G]GATGGGGACTTACTTAGATTTGGCACCAAACTCACGCAAG |
T |
T |
C___2182890_10 |
rs3785722 |
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
13022604 |
0.43 |
0.17 |
0.42 |
0.39 |
hCV2182890 |
GGAGCCACGCAGTCATGTCTGACACAGACCTGAGGCAAAA[C/T]GGACAGCTGAAGGAGGAAGAGCGTGGAGAGGCTATGGCTG |
G |
A |
C____346302_10 |
rs882653 |
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
13033545 |
|
|
0.1 |
0.16 |
hCV346302 |
TACACAGAGCATCGTGAATGGTCTATTGCTACCTAAGTCC[T/C]GTGAAATATTTGCAAGAAAAGGAGATGGGAAACATCTGAA |
G |
G |
C__11682280_1_ |
rs2072253 |
IMS-JST008188 |
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
13056285 |
0.44 |
0.37 |
0.16 |
0.45 |
hCV11682280 |
AATCATATTAACCAATCATTGTAATATTTGATACCAACCA[T/C]TGTAACTGACCATATCAGCAAGCTAGTATTTAAAAATTTG |
G |
G |
C___2182841_1_ |
rs2072251 |
IMS-JST008186 |
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
13060220 |
0.5 |
0.17 |
0.14 |
0.42 |
hCV2182841 |
TCTCATCCTCTTTCCAACACTGCTATCTCTGGAGACAGCC[C/T]TCTATCCCTCCGAATCCTGAGGCTGGGATGTGTCCTCTTA |
A |
A |
C___2182826_10 |
|
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
13065829 |
0.34 |
0.27 |
0.32 |
0.47 |
hCV2182826 |
GATTTCAAAAGATCAGAAATGGGGCCAATATAGAGAACTG[C/G]CCTAATGTTACTAAGATAACATAGGGACTCAAGAGATGCA |
C |
G |
C___2182817_10 |
rs1981622 |
|
KIAA0672
gene product |
KIAA0672 |
Intron |
17 |
13073207 |
|
|
0.07 |
0.09 |
hCV2182817 |
TAGTGTCAATGAGAATGCTTTGTGCTTATAGGTGCCAAGC[G/A]CATATGACTTGTTTTTGAAAATCTCCTCAGAGAAAGAAAG |
T |
T |
C___7560754_1_ |
rs2523 |
IMS-JST036840 |
KIAA0672
gene product|elaC homolog 2 (E. coli) |
KIAA0672|ELAC2 |
UTR
3 |
17 |
13096381 |
0.36 |
0.42 |
0.43 |
0.49 |
hCV7560754 |
ATGGAAACAGACGGCGGCACCTTTCCTCTAATCCAGCAAA[A/G]TGATTCCCTGCACACCAGAGACAAGCAGAGTAACAGGATC |
C |
T |
C__11444987_1_ |
rs13641 |
|
KIAA0672
gene product|elaC homolog 2 (E. coli) |
KIAA0672|ELAC2 |
UTR
3 |
17 |
13096640 |
|
|
0.19 |
0.14 |
hCV11444987 |
TCAGAAGGCTGTGTGTCTTCTGCCCCACGCACGCACCCGT[A/G]TCTGCCCTCCTTGCTGGTAGAAGCTGAAGAGCACGGTCCC |
C |
C |
C___2581440_1_ |
rs2286340 |
IMS-JST036835 |
KIAA0672
gene product|elaC homolog 2 (E. coli) |
KIAA0672|ELAC2 |
Intron |
17 |
13099353 |
0.22 |
0.22 |
0.06 |
0.02 |
hCV2581440 |
CTTATTTTCTTAGAAGCATTTCTTCCCAGTCCTCATTTGA[C/G]TTCTGAGCTGCTTTCTAAACTTCGAGCAGCTTTTCTTGAT |
G |
G |
C__25611482_10 |
|
|
elaC
homolog 2 (E. coli) |
ELAC2 |
Intron |
17 |
13106309 |
|
|
0.06 |
0.02 |
hCV25611482 |
CCCTGCTCACCAGTTTCCGCTGTAAGGTAGTGTCTCAGAC[T/C]GGCCCCTTGTCGGCCCAGCTCTCGTCCCCTCTCTTTCTCT |
A |
A |
C___2581433_10 |
rs2051974 |
|
elaC
homolog 2 (E. coli) |
ELAC2 |
|
17 |
13122211 |
|
|
0.08 |
0.15 |
hCV2581433 |
AGGGACTGACGTGTCCGGAGGACACAGCTCTTATCTGGTG[G/A]GAACAGGAGCGTTTTAGCGAAACTCCAAACTCCTAGGTCC |
T |
T |
C___2181929_10 |
rs916797 |
|
|
|
|
17 |
13327464 |
0.4 |
0.1 |
0.14 |
0.14 |
hCV2181929 |
ACACGCCTGTATATTTAGACATCTTACCTTTGGAATGCCT[T/A]TGTATTCTTTGAAGTATATTATATATATATATTTATTTAC |
A |
A |
C___7560492_10 |
rs1024435 |
|
|
|
|
17 |
13369402 |
|
|
0.28 |
0.35 |
hCV7560492 |
TTTGAATACACATATTTTCTGTTATAATAAAACAAGAAAA[A/G]TCATGACAACACTGAAAACTATGTCCAGCCGGCAAGGTAA |
C |
C |
C___2636268_10 |
|
|
heparan
sulfate (glucosamine) 3-O-sulfotransferase 3A1 |
HS3ST3A1 |
|
17 |
13593254 |
0.37 |
0.48 |
0.49 |
0.45 |
hCV2636268 |
CACCTAGCTCTTCTTCTATCTAGCCATAAATAATGAGCTC[T/C]TTTTCAGACTCTTTGGCCCCTGCTATTTGGTGAGGCCATT |
G |
A |
C___2594194_10 |
rs3785702 |
|
heparan
sulfate (glucosamine) 3-O-sulfotransferase 3A1 |
HS3ST3A1 |
Intron |
17 |
13655601 |
|
|
0.42 |
0.49 |
hCV2594194 |
ACTAATAAGGATTTGATATGATCAGGAAGATGATCAAGAA[C/T]GAAATTCTAGGAATGGGAAGCTGTTTGAGGACAAGCATGA |
A |
A |
C__11444876_10 |
rs1990237 |
|
heparan
sulfate (glucosamine) 3-O-sulfotransferase 3A1 |
HS3ST3A1 |
Intron |
17 |
13686971 |
|
|
0.42 |
0.47 |
hCV11444876 |
CCGAAATGTTTGTATCTTCTCTACGTCTCCCGCGTCTCAT[G/A]CCTTTCTATGGCCGTGGATTTCCAGTGGATTTCCTCATAC |
C |
C |
C___2594249_10 |
|
|
heparan
sulfate (glucosamine) 3-O-sulfotransferase 3A1 |
HS3ST3A1 |
|
17 |
13715626 |
|
|
0.08 |
0.08 |
hCV2594249 |
CAAGTCAATTTGGAGCAGGGCATCAGCATGCCTGACTGCA[C/A]AGACAGAAGATGAAACCAGCCAGTAAATAAACACAAGGCC |
G |
G |
C___2175111_1_ |
rs2241922 |
|
|
|
|
17 |
13881072 |
|
|
0.08 |
0.05 |
hCV2175111 |
GAGAGAAGGACACAGCAAGCAACTTACATGTAAAACAAGA[C/T]GTGTGGGTTATTATGGAAGAAATTCACAACCAAACTTGGG |
A |
A |
C___2582439_10 |
|
|
|
|
|
17 |
14119349 |
|
|
0.28 |
0.47 |
hCV2582439 |
TGAGAAATGAGACTGTCATGCCGGCTGGGACTCAATCTAC[A/G]AGGGAAAGTAGGGACAGAGGAATGCTGGCAGCTGAGCATG |
C |
C |
C__11681475_10 |
|
|
|
|
|
17 |
14121127 |
0.35 |
0.38 |
0.44 |
0.45 |
hCV11681475 |
GCCTGCTGGCAGTCACCTAATCAACACCTTCATTCTTTGA[C/T]TGAGGAATGAGACCCCAGATCCAGTTAACCACAGAGAAAA |
A |
G |
C___2582520_10 |
|
|
COX10
homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
(yeast) |
COX10 |
|
17 |
14165998 |
0.44 |
0.35 |
0.4 |
0.47 |
hCV2582520 |
TGCAGTGACTGATAACATCAGGCTAGGATCCTAGTCCAAG[G/A]TCACTTCAATCAGATATTACACCTCAGCTAAAACCTGCCA |
C |
C |
C___2592984_10 |
|
|
COX10
homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
(yeast) |
COX10 |
|
17 |
14171183 |
0.44 |
0.43 |
0.4 |
0.47 |
hCV2592984 |
GCACCGCTGGTGATAATGATATACAGAACTGAGAATACTG[A/G]ATTCCAGCTTTTACTTCACAACACAACCATGTCTAAAAGG |
T |
T |
C___2592957_10 |
rs1003060 |
|
COX10
homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
(yeast) |
COX10 |
Intron |
17 |
14198028 |
0.13 |
0.11 |
0.23 |
0.18 |
hCV2592957 |
TGTAGGTACTAATGTCTGATTTTCTATATGGACAACCATG[T/A]GCAAATTACTGGTAGTAAAATCTACCAGGGTCTAATCAAG |
T |
T |
C___2592946_10 |
|
|
COX10
homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
(yeast) |
COX10 |
Intron |
17 |
14205638 |
0.14 |
0.05 |
0.1 |
0.05 |
hCV2592946 |
CCAGGGATAAAGATGTATATGGTCTTATTCTTGCTCTTGA[C/A]TAATTTGAAAGGGAGACGGCAGATATGCCTTAATAACTGT |
T |
T |
C__15765730_10 |
rs2323091 |
|
COX10
homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
(yeast) |
COX10 |
Intron |
17 |
14227381 |
0.26 |
0.39 |
0.39 |
0.45 |
hCV15765730 |
TTTCATGTGTTTCCATCATGCTCTAGGCTACTTTATCTAC[A/G]CTGGAAAAAAATTCTGAATTCTTAAAGAAGTCTTAATGTT |
T |
T |
C___2592931_10 |
|
|
COX10
homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
(yeast) |
COX10 |
Intron |
17 |
14234772 |
0.2 |
0.41 |
0.15 |
0.34 |
hCV2592931 |
AGACTAAATCATGGGTTTTCAAACAGTGTTTGAAGAATCA[C/T]AGGTCCTGGGAAGGTTCTTGAAAGGGCTCTACAGGAGATG |
A |
A |
C___2587183_10 |
|
|
COX10
homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
(yeast) |
COX10 |
Intron |
17 |
14301804 |
0.11 |
0.03 |
0 |
0.08 |
hCV2587183 |
AGAGGAAAAGGCCTAACTCTGAGGCTGAGAGGAAAATGGA[C/T]ACAAGTAAAATCCCATTATAATGATTACCTTTATAGACAG |
A |
A |
C__16244001_10 |
|
|
COX10
homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
(yeast) |
COX10 |
Intron |
17 |
14305510 |
|
|
0.5 |
0.31 |
hCV16244001 |
|
#N/A |
#N/A |
C___7442555_10 |
rs917309 |
|
COX10
homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
(yeast) |
COX10 |
Intron |
17 |
14305823 |
0.16 |
0.28 |
0.4 |
0.42 |
hCV7442555 |
AACTGACGGAGTAAACAGGGTGATGCAAGTAGACTTCTTT[A/G]TATTTTGATGGTAAATAAAGTGACCTCTGGATTTTAAAGT |
C |
T |
C___7559962_10 |
rs886862 |
|
heparan
sulfate (glucosamine) 3-O-sulfotransferase 3B1 |
HS3ST3B1 |
Intron |
17 |
14416002 |
|
|
0.1 |
0.11 |
hCV7559962 |
CCCACTCGCCTGCACACAGCAAGTTCTTGCATACGGAGGC[G/T]AAGACATTTTTTTTTTAATCACACAGTTGCTGACTTTCTG |
C |
C |
C___2587081_10 |
|
|
heparan
sulfate (glucosamine) 3-O-sulfotransferase 3B1 |
HS3ST3B1 |
Intron |
17 |
14416634 |
0.03 |
0.17 |
0.03 |
0.08 |
hCV2587081 |
AAATGTGGGGGTGTGTCAATGTGATCCCAAGAGCTGAGAC[C/T]CTGAGTGGTGTGGTTGTGGGGGGCAGCACAAAGGGCAGGT |
A |
A |
C___2587065_10 |
rs758049 |
|
heparan
sulfate (glucosamine) 3-O-sulfotransferase 3B1 |
HS3ST3B1 |
Intron |
17 |
14425686 |
|
|
0.39 |
0.32 |
hCV2587065 |
GTTCATTTTTCACTCAGTCCCACTGAAACAAATGATCACA[C/A]AACTGAAAATAACTAGATTAGCCTCTCCAAACCACAGCCC |
T |
T |
C___2587060_10 |
|
|
heparan
sulfate (glucosamine) 3-O-sulfotransferase 3B1 |
HS3ST3B1 |
Intron |
17 |
14430198 |
0.48 |
0.27 |
0.36 |
0.35 |
hCV2587060 |
CTTCTCGTTGTGTTGAGAATGACCTGCAAACTCCCTGGCA[G/A]GGCATATATGAATTCACTCCAAGGGAATTCTAAGTTCCTC |
T |
T |
C___7559924_1_ |
rs1053326 |
IMS-JST043493 |
heparan
sulfate (glucosamine) 3-O-sulfotransferase 3B1 |
HS3ST3B1 |
|
17 |
14453050 |
0.02 |
0.08 |
0.3 |
0.32 |
hCV7559924 |
TTTTAGATTACTTGGTTGAATGAGACTCAGTGATAAATTA[A/G]TGTCACAAAAGTGAGAAAACATCTAACCACACCTTTAAGT |
C |
C |
C____348321_10 |
rs612066 |
|
|
|
|
17 |
14609400 |
0.49 |
0.46 |
0.27 |
0.33 |
hCV348321 |
TTAAGAAAGAAGGGTCCATTGTAAACCTTTGAAACAGAAC[C/G]CAGACATGCTGAGAGCCTTGGTGATTGTTTCAAGTAATAT |
G |
G |
C____345850_10 |
rs1000911 |
|
|
|
|
17 |
14838121 |
0.26 |
0.41 |
0.27 |
0.43 |
hCV345850 |
TTTCCTTAATATCACTGTGGCTCTCTACATCATCCCACTT[T/C]GATTTTGATTCTACAATGGAACCTTTGGTTTTCCTTGCCA |
A |
A |
C___2599251_10 |
rs736985 |
|
|
|
|
17 |
14880012 |
0.22 |
0.16 |
0.26 |
0.2 |
hCV2599251 |
GCCTCAACACAGGCTTATGGGGAATGTTTGGGCACACCTG[T/C]TTCCACACTGCTTTTCTGTCGTGTCTCCAAGATTTCTGTG |
A |
A |
C___2599250_10 |
rs736986 |
|
|
|
|
17 |
14880037 |
0.23 |
0.31 |
0.26 |
0.22 |
hCV2599250 |
TGTTTTTCGCTGGGTTGGTGGATGCGCCTCAACACAGGCT[C/T]ATGGGGAATGTTTGGGCACACCTGCTTCCACACTGCTTTT |
G |
G |
C___2599170_10 |
rs2058228 |
|
|
|
|
17 |
14940113 |
|
|
0.23 |
0.22 |
hCV2599170 |
AATGCACGTTAGGCAGAGGAAGAATGAGAGACCTGCAGAC[T/C]CCGCCACTCTGACACAGGGCCATGCTTTGGGAACAACGTC |
A |
A |
C____337714_10 |
|
|
|
|
|
17 |
14946648 |
0.22 |
0.2 |
0.18 |
0.16 |
hCV337714 |
TTTTAAAGCTGTTGGAATTGGAAAAGAAAGGAAATTTCTG[A/C]GAGAAAGAGATTTCTAAGCCAAAGAAACAAAGGGGATGGT |
G |
G |
C___2646062_10 |
rs766193 |
|
|
|
|
17 |
15056650 |
|
|
0.36 |
0.38 |
hCV2646062 |
GTTCCACCCCCAGCACGATACCAAGCTTTGGCAATGCTGG[T/C]GTATATGGTACAGTTTCTCTATTTTTCTATGCTGTCTTAT |
G |
G |
C___7559648_10 |
|
|
|
|
|
17 |
15094576 |
0.2 |
0.35 |
0.34 |
0.27 |
hCV7559648 |
AAAAGGAGAAAGCATGAAATTGGCATCTTGGAGTGCAATG[G/T]TCCTTGTTTTCTGTTTATCCCCCATCCCTATCTCCATCCT |
A |
A |
C___7559620_10 |
|
|
|
|
|
17 |
15235407 |
0.37 |
0.4 |
0.38 |
0.49 |
hCV7559620 |
CATTCTATGGCTGTAGATAGAGAAACAGATGCCAAGAATA[G/T]GCAACTCAAACTCACAGAGCAAGTCAGTAACAGAAGATGC |
A |
A |
C____774376_10 |
|
|
peripheral
myelin protein 22 |
PMP22 |
UTR
3 |
17 |
15334741 |
0.49 |
0.23 |
0.42 |
0.38 |
hCV774376 |
|
#N/A |
#N/A |
C___1608235_10 |
rs179520 |
|
peripheral
myelin protein 22 |
PMP22 |
Intron |
17 |
15344136 |
|
|
0.44 |
0.39 |
hCV1608235 |
GTGATCTTTACCTCTCCTTGGGGAATGCAGATAATTTGAA[C/T]AGTGGTTTTAAGCTATTTTTCTTGGAATACAGAAGTTCTG |
A |
A |
C____774401_1_ |
rs231020 |
IMS-JST008283 |
peripheral
myelin protein 22 |
PMP22 |
Intron |
17 |
15362955 |
0.44 |
0.26 |
0.35 |
0.43 |
hCV774401 |
TTCTCATCATCACCAAACGGTGAGGCTGGTTTTGTGCTCC[A/G]TGAGCTTGTCCTCAGACGCCTGTAACACGTTTCTCAGCCC |
T |
T |
C___1608261_10 |
rs179521 |
|
peripheral
myelin protein 22 |
PMP22 |
|
17 |
15373787 |
|
|
0.46 |
0.44 |
hCV1608261 |
CTTCCCTGGATTAGCTGAGGTTTCACACTTGATAAGTGGT[G/T]CAGGAACTCAGAGATGAAGAAAACATCTGGTCTCCAGTTC |
A |
A |
C___1608293_10 |
rs230963 |
|
tektin
3 |
TEKT3 |
|
17 |
15407295 |
|
|
0.42 |
0.36 |
hCV1608293 |
GGCTGTGATTCATAATGCATAATTCATAATGTGTTCTGCA[C/T]GTCTCTTTTTGTTCCACTCTCATCTCTCCAATTCAAACTT |
A |
A |
C____774426_1_ |
rs13961 |
IMS-JST058501 |
tektin
3 |
TEKT3 |
Mis-sense
Mutation |
17 |
15407930 |
0.22 |
0.2 |
0.36 |
0.34 |
hCV774426 |
CAGAGGACACCCTGCAGTCGCTGGTCCACATCAAAGCCAC[A/C]CTCGAGTATGACCTGGCTGTCAAAGCCAATTCCCTGTACA |
T |
T |
C__22273948_10 |
rs2286516 |
|
tektin
3 |
TEKT3 |
Mis-sense
Mutation |
17 |
15416226 |
|
|
0.23 |
0.26 |
hCV22273948 |
|
#N/A |
#N/A |
C___1608318_10 |
rs432432 |
|
tektin
3 |
TEKT3 |
Intron |
17 |
15426379 |
0.39 |
0.2 |
0.24 |
0.24 |
hCV1608318 |
ACTCAATGTTTCTGTGATGTGGTGCATATTCCTCAGCTGA[G/C]AGTATAGCAGAGCCCACATCTTACATGAGGATTCAGTTCT |
G |
G |
C__22274773_10 |
rs2305959 |
|
tektin
3 |
TEKT3 |
Intron |
17 |
15434798 |
|
|
0.27 |
0.27 |
hCV22274773 |
|
#N/A |
#N/A |
C___1608331_10 |
rs375938 |
|
tektin
3 |
TEKT3 |
|
17 |
15445723 |
|
|
0.49 |
0.49 |
hCV1608331 |
CGGGAAATCACCGAGGCCTCTCCCTTGGGCTACTCTTCAC[T/C]CCTTTCACCTCCCAAACCAAGGAGGTCTCCCGGAGGGCGG |
A |
G |
C___1216249_10 |
rs2954764 |
|
similar
to CGI-148 protein|similar to CGI-148 protein |
LOC201158|FLJ36674 |
|
17 |
15544306 |
0.08 |
0.39 |
0.47 |
0.43 |
hCV1216249 |
TTTGCGGGGCTCACTTGGCCTGTCTCCAGCTCCACAAAAA[A/G]CATGTCCTCTTCTCAGGGGGTGGAGTCATCTTAGCCTCAT |
T |
C |
C___1216237_10 |
rs1548678 |
|
similar
to CGI-148 protein|similar to CGI-148 protein |
LOC201158|FLJ36674 |
|
17 |
15567278 |
0.23 |
0.09 |
0.16 |
0.46 |
hCV1216237 |
TTTTAGGAACATGGGAAAGAATGATTTTGTTCTGGTTTTA[A/G]ACACTTACTTTTGGCCTTAGAGAGACACGAGCCAACTTGC |
T |
T |
C___1216228_10 |
|
|
similar
to CGI-148 protein|similar to CGI-148 protein |
LOC201158|FLJ36674 |
|
17 |
15581301 |
0.13 |
0.3 |
0.44 |
0.32 |
hCV1216228 |
ACTATTACAGCAGAAGGAGGAAGGCCAGTTGGGTGCTGTT[A/G]TGGTAATCTAGGCCAATGGTTCCCAGACTTTTGTTAAAGA |
T |
T |
C___1216213_10 |
|
|
similar
to CGI-148 protein|similar to CGI-148 protein |
LOC201158|FLJ36674 |
|
17 |
15594822 |
0.13 |
0.22 |
0.45 |
0.28 |
hCV1216213 |
GGGCTAGCAGGAAGCTTTGCCTCCAGGCTGTGGTGCTTGC[C/T]GGGCCTCTATGCTTCGAAGAGCCGGCCCGAGGTGACTCAG |
G |
G |
C___1216200_10 |
|
|
similar
to CGI-148 protein|similar to CGI-148 protein |
LOC201158|FLJ36674 |
|
17 |
15603693 |
0.34 |
0.41 |
0.36 |
0.17 |
hCV1216200 |
CTGGGGCACCTGCATCTCTGAGGGCAAATTACAACCCCAC[G/A]TATCCTAGAGGAAGATTTGTCATCCAGCCACCTGGAAAAA |
C |
C |
C__11953909_10 |
rs2052022 |
|
similar
to CGI-148 protein|similar to CGI-148 protein |
LOC201158|FLJ36674 |
|
17 |
15605553 |
0.36 |
0.37 |
0.34 |
0.17 |
hCV11953909 |
AGTCCCACAAATGTGAAGTTCTCTTCTTTCCTCCGTGAGT[C/T]GTTGGGTCAAATAGAACTCTTGTTAATAGCTCACCAAGTC |
A |
A |
C___1216177_10 |
|
|
similar
to CGI-148 protein|similar to CGI-148 protein |
LOC201158|FLJ36674 |
|
17 |
15612604 |
0.16 |
0.15 |
0.11 |
0.13 |
hCV1216177 |
CAGAAATACCCAGAAGTATTTTTAAACATTACAACCATAC[C/T]TTGGCCCATGCTCGTTTGTAAGCTATTAGTGGGTCATTTT |
A |
A |
C___2583224_10 |
rs3785634 |
|
|
|
|
17 |
15754275 |
|
|
0.48 |
0.38 |
hCV2583224 |
ATTTTATTTCCATCGGATAAGGAAACTGTTTCTAGAACAA[G/C]TCGTTTTTCTTTGCCTAAAGCTAGATCCTGGAGAAGTTCC |
G |
G |
C___2583223_10 |
|
|
|
|
|
17 |
15754844 |
|
|
0.48 |
0.38 |
hCV2583223 |
CGCCACTACTATGCTCTGAGCATACCTGAAAAAGACTAGC[C/T]TCAGCGTCTGCCTGCTGGGTCAGTGTAAATATACATTGCA |
G |
G |
C___9457418_1_ |
rs1057430 |
IMS-JST012199 |
hypothetical
protein MGC51025 |
MGC51025 |
Intron |
17 |
15848461 |
0.17 |
0.13 |
0.27 |
0.31 |
hCV9457418 |
TCCTAACGCAGGCAGCCGAAGAGAGGGTGTCAGGAGCCAG[A/C]GGGTGTCAAGAGCAGCCAGGGCACACCGGCCTGCATGGGG |
C |
C |
C___2653520_10 |
rs1076424 |
|
adenosine
A2b receptor |
ADORA2B |
Intron |
17 |
16073883 |
|
|
0.11 |
0.14 |
hCV2653520 |
GGCCTGGTATGTTCTACTTTTCAAATTTCTCACTCCTCAA[C/T]CTTTAGCTTCTGCCTGAAAGGCCTCCTGACATCCTGTATC |
T |
T |
C___2653528_30 |
rs11654 |
|
adenosine
A2b receptor |
ADORA2B |
|
17 |
16081717 |
0.37 |
0.3 |
0.38 |
0.33 |
hCV2653528 |
TACCGAAGCGTCTCAGAGACTGGCTCAGGGTATTTCTTGA[G/C]AAGACTGTACAGGGCTTCTCATCATACACAAACCCTCCAC |
G |
G |
C____464937_10 |
|
|
adenosine
A2b receptor |
ADORA2B |
|
17 |
16087864 |
0 |
0.06 |
0.01 |
0.08 |
hCV464937 |
CTTTAGTTATCTCGTCTCTTCTCTCTAGATTTAAACTTAA[G/A]CAAGCAGAAGCCTCTGGGATTCTGTACTGACTAGAATAAT |
A |
A |
C___2653547_10 |
|
|
hypothetical
protein FLJ20343 |
FLJ20343 |
|
17 |
16095355 |
0.35 |
0.22 |
0.39 |
0.34 |
hCV2653547 |
TTGCCTGTTACCCTGCAATTTACATTCCTGTTATAAATGA[C/T]CCCTTTCCCCATATTTGTGTCAACTTCTTTTCTGTGGTCA |
T |
T |
C___2301942_10 |
rs758853 |
|
hypothetical
protein FLJ20343 |
FLJ20343 |
Intron |
17 |
16104168 |
0.4 |
0.21 |
0.29 |
0.21 |
hCV2301942 |
GAGGCGGCTCCGGGCCCTGCGCCCGGCCGAGCGCGGTAGC[A/C]TTTGTGAGCGGGGTCTTGGCGTTGCTGCGCATTACTCTCT |
A |
A |
C___2546682_10 |
|
|
hypothetical
protein FLJ20343 |
FLJ20343 |
Intron |
17 |
16121985 |
0.39 |
0.26 |
0.3 |
0.2 |
hCV2546682 |
ACTTGTTTTTTCTCTGTGATCTGGAATTTTAGACTTAGTG[A/G]AATTTATTGCAGAGGAGAATTCTAAAGCCTGCATATTTGC |
A |
A |
C___2546673_10 |
|
|
hypothetical
protein FLJ20343|nuclear receptor co-repressor 1 |
FLJ20343|NCOR1 |
|
17 |
16133386 |
0.37 |
0.31 |
0.37 |
0.27 |
hCV2546673 |
AAATTAAAAGCATTATGAAATTTGCAGTCATAAACATGCA[C/G]TGGAAAACTGGCTGTCAGAATACTTTTATGAAGAGTATTA |
C |
C |
C____330388_10 |
rs2285583 |
IMS-JST035832 |
nuclear
receptor co-repressor 1 |
NCOR1 |
Intron |
17 |
16168709 |
0.34 |
0.21 |
0.38 |
0.35 |
hCV330388 |
CCAAGATACCTTAAAAGGCTATGTTGTAAAAATGTAAACA[T/C]GATGGTTCTATTAGAGAGGTGTGTAACTGTACAATCTCAC |
#N/A |
#N/A |
C___2546637_10 |
|
|
nuclear
receptor co-repressor 1 |
NCOR1 |
Intron |
17 |
16171248 |
0.37 |
0.29 |
0.36 |
0.27 |
hCV2546637 |
ACAGCTTTGGAAAGAGTTGATACAGAAGTTGAATCAGGTG[C/T]GGACTAGACAACTTCAAAGGCTGGAAAAAAAATCTAGAAG |
T |
T |
C___2546634_10 |
|
|
nuclear
receptor co-repressor 1 |
NCOR1 |
Intron |
17 |
16174410 |
0.08 |
0.42 |
0.27 |
0.2 |
hCV2546634 |
TTGACCTGAGTTGTTGTCAAACTTTATTGGTGTGCCCTAA[A/T]GGGAAAGAAACAAACATTACAGGTAGCAAAGTCATCTGGC |
T |
T |
C___2546625_1_ |
rs2051736 |
IMS-JST024083 |
nuclear
receptor co-repressor 1 |
NCOR1 |
Intron |
17 |
16190579 |
0.4 |
0.23 |
0.28 |
0.21 |
hCV2546625 |
TCAAACCACAGCTTTCAAGCTGATGCTTATTTCAAACTTC[T/C]GCTTAGCATAGCAAACATCAGTCTTCAAAAATTTTTTCTC |
C |
C |
C___2546617_10 |
|
|
nuclear
receptor co-repressor 1 |
NCOR1 |
Intron |
17 |
16204825 |
0.35 |
0.44 |
0.32 |
0.26 |
hCV2546617 |
CCTCCACCTTCTTCTACCACATCCCACTGCTGCCCTCCTC[A/G]GGCACAACAGTTATCTGTGGTTTATTCACAACTTTATTAG |
G |
G |
C___2546592_10 |
|
|
nuclear
receptor co-repressor 1 |
NCOR1 |
Intron |
17 |
16238192 |
0.37 |
0.44 |
0.33 |
0.27 |
hCV2546592 |
TGGTCTAAATTCATTTAACTCACACCTCTCCCAAATTCCC[A/C]GTGAAACAACCAGAGAAATGTAAAATTGGAGGAAAAATCT |
A |
A |
C___2987622_10 |
rs178659 |
|
nuclear
receptorco-repressor 1 |
NCOR1 |
Intron |
17 |
16257008 |
0.42 |
0.38 |
0.15 |
0.08 |
hCV2987622 |
AATTCTCATTCTGCCTGGAAGGATTAAATAGCTGCTCAAG[C/T]AAAAACAAGCTCAGGGTGATGTTTCTGCAAAGGTCTGCAA |
T |
T |
C____597487_10 |
rs178838 |
|
nuclear
receptor co-repressor 1 |
NCOR1 |
Intron |
17 |
16276467 |
0.33 |
0.42 |
0.35 |
0.27 |
hCV597487 |
AAAACAAGCAAGAAATAAAAATCTCCCAGCTATTGCTACA[A/T]AGAAAGAGAAATGACTTCACTTATGAGGTACCATTCAGTC |
T |
T |
C___2987614_10 |
rs178830 |
|
nuclear
receptor co-repressor 1 |
NCOR1 |
Intron |
17 |
16282524 |
0.45 |
0.11 |
0.03 |
0.07 |
hCV2987614 |
AATAGGAGGCCAAGTCATTCAAGATACTTGTAATTCTTTC[T/C]GTGAATCCCACTTTTCTAAGTTTTTGACAATAGCTGTATG |
T |
T |
C___2987604_10 |
rs178814 |
|
nuclear
receptor co-repressor 1 |
NCOR1 |
Intron |
17 |
16294721 |
0.38 |
0.3 |
0.33 |
0.27 |
hCV2987604 |
AATGTAGAAACTATTTTCAGAAACTGAATAATAGGCAGCA[C/G]AGGGCTTGATCGCTGAGAGAAATGAAGCAAATGAGGTAAG |
C |
C |
C___2987592_10 |
rs178791 |
|
nuclear
receptor co-repressor 1|phosphatidylinositol glycan, class L |
NCOR1|PIGL |
Intron |
17 |
16327772 |
0.42 |
0.37 |
0.16 |
0.08 |
hCV2987592 |
GATTTCCATGTAATTCTGGTCTATACACTTTAGTCATCTC[A/C]ACAACCCTGTCTTAATTACTGTAGCTTATAAAAGCTACAC |
C |
C |
C___2650004_10 |
|
|
phosphatidylinositol
glycan, class L |
PIGL |
Intron |
17 |
16359340 |
0.44 |
0.34 |
0.11 |
0.02 |
hCV2650004 |
AAGACTTTTACAGACTAATTTAAGCTGAACAAGGAAATAT[C/A]ATCTGGTACCTACTAAGAAACATAAATGGGCCTGGGTTGC |
C |
C |
C___2649991_10 |
rs3785626 |
|
phosphatidylinositol
glycan, class L |
PIGL |
Intron |
17 |
16385814 |
|
|
0.16 |
0.05 |
hCV2649991 |
AAGCAGGCAAGCCAAAGGGGAGCAAGAGCAATGCAACCTG[G/T]AAGACCCATCCTCAGACATTCTGCTATTGCCCCCAGACAA |
G |
G |
C___2649983_10 |
|
|
phosphatidylinositol
glycan, class L |
PIGL |
Intron |
17 |
16396841 |
0.43 |
0.24 |
0.16 |
0.05 |
hCV2649983 |
ATTCACCAACTGTCTCTTAAGGAAGCATCCAAAAACTGAC[T/C]TACATGTTTATCTAGGGTAGAATTGTTACTATATTAGAGA |
C |
C |
C___2649978_1_ |
|
|
phosphatidylinositol
glycan, class L |
PIGL |
Intron |
17 |
16408092 |
|
|
0.34 |
0.2 |
hCV2649978 |
AGCTGAGCATGGGTTTCCATTCAGCCCAGAAGTTTCAACT[G/A]CACACAAGAGATGATGAAGCAGCAACACAGAAGCACAGAC |
G |
G |
C___7460818_10 |
|
|
phosphatidylinositol
glycan, class L |
PIGL |
Intron |
17 |
16420358 |
0.04 |
0.23 |
0.19 |
0.12 |
hCV7460818 |
ACAAACCACAGACCAGCCTCTGGATTGGCTGTCCCTAGCT[C/T]AGGTGCCCATCCTGGTCCCTTCAGCTGTTGCCAGAGGTAT |
C |
C |
C___2649967_1_ |
rs15739 |
IMS-JST058643 |
phosphatidylinositol
glycan, class L |
PIGL |
UTR
3 |
17 |
16429798 |
0.42 |
0.18 |
0.16 |
0.06 |
hCV2649967 |
AACTCACTGAGCTTCCTCTGAAGCCTTGAAGGGTTTTCAG[G/A]TCCAAGGAACAAAGGGGAAAATAGACAAAGGAGTGCAGAG |
G |
G |
C___2649948_10 |
rs917609 |
|
nuclear
protein p30 |
p30 |
Intron |
17 |
16447174 |
|
|
0.3 |
0.18 |
hCV2649948 |
CAGAAAGGCACAGCCCAGAGCAATCTCTGACTGGCAGCCT[A/G]AAGAATTCACAGGCCTTTCCTGTGTTTAGATAGATAACTT |
G |
G |
C___2649945_10 |
|
|
nuclear
protein p30 |
p30 |
Intron |
17 |
16449472 |
|
|
0.29 |
0.2 |
hCV2649945 |
ATAACTTAATGGCAGGAGCTCTTCTGTAGGGCTCTTTGTA[T/C]TAAGAGGCCATTTCCTATCTCCAGAAGAGACTGGGACCTT |
C |
C |
C___2649943_10 |
|
|
nuclear
protein p30 |
p30 |
Intron |
17 |
16454603 |
0.44 |
0.24 |
0.15 |
0.05 |
hCV2649943 |
CACTAAACAAGATACAGCAGACACGATTGCTACCCTTACC[C/G]ACCTTAACAATTTACTCAAATAATAATTAATTATGATTGT |
C |
C |
C___1789328_10 |
|
|
ubiquitin
B |
UBB |
|
17 |
16482804 |
|
|
0.21 |
0.13 |
hCV1789328 |
TAACCTCACCCTTGCACAACAAGCACGTCAATGGGAGCAG[G/T]ATCAGCTACTTTCTTGTAGGTGAATTCCCGTTTTTGAAGT |
T |
T |
C__12125529_10 |
|
|
transient
receptor potential cation channel, subfamily V, member 2 |
TRPV2 |
Intron |
17 |
16530311 |
0.46 |
0.44 |
0.28 |
0.26 |
hCV12125529 |
GCATGTCCCAGCAGGCACGACCCTGACCATGGCCACCGGG[C/T]CCATACTCAATCCATACTCTAGTCCCATCCAAGACGGGGA |
T |
T |
C__12120506_10 |
|
|
hypothetical
protein MGC40157|transient receptor potential cation channel, subfamily V,
member 2 |
MGC40157|TRPV2 |
Intron |
17 |
16543379 |
0.44 |
0.33 |
0.3 |
0.26 |
hCV12120506 |
GTACGTCGGTAAGATTGTAACAGTATTACTGGAAGACTTA[T/C]TCGACTGTCCTGATGATACTTGTAATAGGAAGTGCCGTCA |
C |
C |
C____316398_10 |
|
|
hypothetical
protein MGC40157|transient receptor potential cation channel, subfamily V,
member 2 |
MGC40157|TRPV2 |
Intron |
17 |
16544336 |
0.44 |
0.3 |
0.29 |
0.25 |
hCV316398 |
AGAAAGAGGGGCTACTCTATTTACCTCTTGGCTGTTTAGT[T/C]TCGGGCAAATTACCTGTCTGCTGAGATGTAGTTTTCCTCA |
T |
T |
C___1274931_10 |
rs1009237 |
|
hypothetical
protein MGC40157|transient receptor potential cation channel, subfamily V,
member 2 |
MGC40157|TRPV2 |
|
17 |
16550722 |
0.43 |
0.32 |
0.3 |
0.27 |
hCV1274931 |
CCGTCTTGCTGTATCCCCATATATGTCCCCTCTACCCAGG[C/T]AGAGCCCCTCCCGTAGCCAGCACCATCACAGCCTTACACT |
C |
C |
C___1274945_10 |
|
|
hypothetical
protein MGC40157 |
MGC40157 |
|
17 |
16554867 |
0.42 |
0.47 |
0.29 |
0.26 |
hCV1274945 |
GTGGGTGAGAAGGCAGGAGGGGGGTGACCTGCTCATGTGG[G/A]GCCATGGTAAGTTTGAGGAGCTCACAATACCTCCAGCTGT |
A |
A |
C___2992002_10 |
rs4792751 |
|
hypothetical
protein MGC40157 |
MGC40157 |
|
17 |
16563727 |
|
|
0.3 |
0.25 |
hCV2992002 |
CCTCCCACCCCTGCCTCATCCAGAGAGCCTCGCTTGCCAC[A/G]TGGGCACGAAAGGGGCCTTCCAGGTCTCTGGGCTTTAGCA |
G |
G |
C___2992036_10 |
|
|
|
|
|
17 |
16585527 |
0.17 |
0.08 |
0.16 |
0.13 |
hCV2992036 |
TACCCCCTGCCTCCCCCATGATGGCCTGGCAGGAGAAGGT[G/A]TCTGTGGGTCGGCAAGATGGCCCTGGCATTCAGCACAGGA |
A |
A |
C___2992044_10 |
|
|
|
|
|
17 |
16596676 |
|
|
0.07 |
0.01 |
hCV2992044 |
ACGCTCCTTTGAGACCTGGCCTGCTTGCAGGGCGCTGTAG[T/A]GGTGTGGTTGGTGCGTAAACCTGGAAACTGTGCGAGCTTA |
A |
A |
C____247668_10 |
|
|
|
|
|
17 |
16728361 |
0.3 |
0.33 |
0.45 |
0.44 |
hCV247668 |
CCTGTGATAAATCTTCAGAAATAGCCTTTGTTCGTGTAGC[C/A]TTCTTGGTTGCAGGTTTGGGCTCCATGTCTGGGGCAAAAA |
C |
C |
C___1747994_10 |
|
|
|
|
|
17 |
16991192 |
0.12 |
0.03 |
0.31 |
0.15 |
hCV1747994 |
AGCACCCCCGGGGTCATTTGTACCAAAAATACACCTGATA[G/T]TGAGGACAGGACCCTGCTCATACTGTTAAAATGCCATTTG |
T |
T |
C___7442847_10 |
rs883504 |
|
|
|
|
17 |
16992224 |
|
|
0.11 |
0.15 |
hCV7442847 |
CAGCCCAGAAGGTCTTCTTCCTACCTCAGTCCTGACCCCT[C/T]TGTGGAACCCCCATGTCATTCAGTCCAACCAAGGTACCCA |
C |
C |
C___1747937_10 |
|
|
tumor
necrosis factor receptor superfamily, member 13B |
TNFRSF13B |
Silent
Mutation |
17 |
17043478 |
|
|
0.14 |
0.17 |
hCV1747937 |
GGACCACAGTCCTGCAGCCTTGCCCACACATCCCAGACAG[T/C]GGCCTTGGCATTGTGTGTGTGCCTGCCCAGGAGGGGGGCC |
T |
T |
C___1747902_1_ |
rs2274892 |
IMS-JST070909 |
tumor
necrosis factor receptor superfamily, member 13B |
TNFRSF13B |
Intron |
17 |
17052593 |
0.39 |
0.24 |
0.3 |
0.36 |
hCV1747902 |
TCAGAAGCAAGTCCAGGTAAGCCACCCAAGGCAAACCTGC[A/C]TGGTGTCACGCAGGGTGAGAAAGCGTGGGAGGCCTGATGC |
A |
A |
C__12125660_10 |
|
|
|
|
|
17 |
17086452 |
0.12 |
0.09 |
0.44 |
0.43 |
hCV12125660 |
TCTGCAACCTGCAACCTGAGAATTGCTAATCTGCCTTATT[C/T]CATCTGAATATATTGTTTTGGTTTGCTAAAACCAGGAGGT |
T |
T |
C____503262_10 |
|
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
Intron |
17 |
17151449 |
0.14 |
0.24 |
0.19 |
0.15 |
hCV503262 |
GCACTGATCTGGAGAGAATGCCTTGATTGTAATTTACCCA[C/G]TTTAATAGCCTCCAGTAGATCTTCTGCCTTTAACCAGAAT |
C |
C |
C____505982_10 |
rs4985719 |
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
Intron |
17 |
17182848 |
0.08 |
0.16 |
0.19 |
0.15 |
hCV505982 |
TGTCTCGCCCCTGCAGCAAAGAAACAAACTCTGGGTAGGA[T/G]AGGCAGGGGCTGCCTATTTTACATAGTGAGACTAGGCTTT |
G |
G |
C____356201_10 |
|
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
Intron |
17 |
17200767 |
0.08 |
0.15 |
0.19 |
0.15 |
hCV356201 |
TCCCAGCAGCCGACGAGATTCTAGAAGACAAGGATGCTTT[T/C]TCATATTTATTTTCCACCTCTGAGCCCCTCTGAGGCACAC |
C |
C |
C____356208_10 |
|
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
Intron |
17 |
17209764 |
0.1 |
0.17 |
0.3 |
0.33 |
hCV356208 |
CCTCCCTTTGAGTGGCAGATGTCCTATATGGGGTAGGAAA[G/A]ACTATTTTAAAGATCAAAACCTTAACCTAATCCTAACCCT |
G |
G |
C___1385619_10 |
|
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
Intron |
17 |
17247370 |
|
|
0.19 |
0.23 |
hCV1385619 |
AGTGCAGCCCAGGGCAATGTGGGCATGTGAGGGACGAGCT[A/G]GTGCTGTCCACCCCTCCAAGAGCCGCCAGGGCCTTGCTCC |
A |
A |
C___1385617_10 |
|
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
Intron |
17 |
17250821 |
0.1 |
0.21 |
0.3 |
0.41 |
hCV1385617 |
GCTGGGCCCATCAGAACGGAAAGGTGGCTGTGAAATGGCA[G/T]CTCCACCTGCAGGTGGCAGCCCGCAAGCCATGGCCATGTG |
G |
G |
C___1385598_10 |
|
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
Intron |
17 |
17264820 |
0.1 |
0.28 |
0.3 |
0.41 |
hCV1385598 |
GGATGCCCACATACTTCCCACACCTGCTCAAGGTTCCAAC[A/G]TGCACGCCCTATATAGGTGCCAAGGCCCATACGGGGTGTT |
G |
G |
C___1385590_10 |
rs1567815 |
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
Intron |
17 |
17275304 |
0.1 |
0.29 |
0.3 |
0.41 |
hCV1385590 |
CCCATTTCTTCCTGGGAGAAGTTGGTATGGTAGGTGGGGA[G/C]AGGCTGCTATGAAATGGAAACCAGCCAACCCTGGACCTTC |
G |
G |
C___1385573_10 |
|
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
|
17 |
17292312 |
0.11 |
0.3 |
0.3 |
0.41 |
hCV1385573 |
GGTGGCTGCTGCAGAAACAGGTTCTTGCTGGGCCTTCCAA[C/G]TCACTAAGCAGGCTGTGGGGCCTTGCTCTCCATGCTCTTC |
G |
G |
C__12114638_10 |
rs4985744 |
|
myosin
phosphatase-Rho interacting protein|Rho interacting protein 3 |
M-RIP|RHOIP3 |
|
17 |
17293698 |
0.08 |
0.13 |
0.2 |
0.26 |
hCV12114638 |
GAAAACACAGGGCTGATCCCAGCTTGCAGGGAAGGGGAAA[T/C]GAAACGTTGTCTCTGGCCTGTGTCACCTCTTAGTGCTCCA |
T |
T |
C__12119401_10 |
|
|
similar
to CG12314 gene product|similar to CG12314 gene product |
LOC201164|LOC201164 |
|
17 |
17315152 |
0.28 |
0.36 |
0.27 |
0.36 |
hCV12119401 |
GGGGCATGTGTGACCTGGATTTCCCATGTCTAACAGAGCT[T/C]GCTGGCGAGGGGGCAGGCAAGGCCCTATGCCGACTGGTGG |
T |
T |
C___2944926_10 |
|
|
|
|
|
17 |
17322190 |
0.35 |
0.47 |
0.17 |
0.19 |
hCV2944926 |
ACTTGCATATCAAACCATACTAGTAAACAGTAGCCAAACC[A/G]TGGAATATGATTAATTAGAAGAAATAAAGCAGGCACTGTG |
A |
A |
C___7442940_10 |
rs1736211 |
|
hypothetical
protein MGC13008 |
MGC13008 |
|
17 |
17335988 |
|
|
0.18 |
0.19 |
hCV7442940 |
CCTGCCCTCTCCTGTCCTGCAGCCTGCATCTTTGCTGAGT[C/T]CTCAGGGCCTTCCAGCTAGAAGTTCTGCCATCTGTTAAAT |
T |
T |
C___7442948_10 |
rs1736205 |
|
COP9
constitutive photomorphogenic homolog subunit 3 (Arabidopsis)|hypothetical
protein MGC13008 |
COPS3|MGC13008 |
|
17 |
17347631 |
0.24 |
0.21 |
0.21 |
0.22 |
hCV7442948 |
CATAAATTAAAGGGATGAATACATTTACAGGTGGAAATAC[A/G]AACTGCTTCCAACTCAAGACAAGTAGCAGCTCATGGTGTT |
G |
G |
C___1123818_1_ |
rs1736204 |
IMS-JST047542 |
COP9
constitutivephotomorphogenic homolog subunit 3 (Arabidopsis) |
COPS3 |
Intron |
17 |
17351707 |
0.24 |
0.26 |
0.16 |
0.19 |
hCV1123818 |
ATGTCACCTGAAATGGTGTCTAGTCTTCATTTATCTCAGC[A/G]TGAATATACTCGTTTCACTGCAAAAGATACTATGTGTTTG |
A |
A |
C___7442968_10 |
rs1708623 |
|
COP9
constitutive photomorphogenic homolog subunit 3 (Arabidopsis) |
COPS3 |
Intron |
17 |
17356653 |
|
|
0.36 |
0.4 |
hCV7442968 |
TTGGTAACCCCACAGGGGTTACACAGAATAAGCTATAGAC[A/G]CTTTCCCCAAGAAATTCCCTCTTCAGTGGCGAGTGAGAAG |
G |
G |
C___8716994_10 |
rs2007658 |
|
COP9
constitutive photomorphogenic homolog subunit3 (Arabidopsis) |
COPS3 |
Intron |
17 |
17372353 |
0.3 |
0.24 |
0.17 |
0.21 |
hCV8716994 |
CTGCCAAAAACTGATTATGCCTTACTTGACACTTGGTCTT[C/G]TTATTTATAATCAGGGCAGGAAACAGTCCTTTTGAAATCT |
C |
C |
C___2957232_1_ |
rs1029830 |
IMS-JST008354 |
COP9
constitutivephotomorphogenic homolog subunit 3 (Arabidopsis) |
COPS3 |
Intron |
17 |
17384663 |
0.47 |
0.38 |
0.36 |
0.4 |
hCV2957232 |
GAGCCATCTCGGGCGACTATTGGTTCCTTCTGTCTCTCTT[T/G]CCTTCGGTGATTGGCGCACCGCCATGTCATCTTTGCCGCC |
G |
G |
C___7442987_10 |
rs1029832 |
|
COP9
constitutive photomorphogenic homolog subunit 3 (Arabidopsis) |
COPS3 |
|
17 |
17385311 |
0.46 |
0.26 |
0.34 |
0.37 |
hCV7442987 |
TTTTGCCCACTATCCCCATTTAACCTGCGGAGGGATTTCA[G/C]AAGTGCAGTGAATAAAGATGCAGGGGACTATGGAACACTA |
G |
G |
C___2980025_10 |
|
|
5',3'-nucleotidase,
mitochondrial |
NT5M |
Intron |
17 |
17415686 |
|
|
0.06 |
0.11 |
hCV2980025 |
CACGATACATCAAGTTCATACCATAAACCAGAATAAAATT[T/C]ACTACTCTGCAGGACTTGGACTCACATCCAAAGATAAATT |
T |
T |
C__12119150_10 |
|
|
5',3'-nucleotidase,
mitochondrial |
NT5M |
Intron |
17 |
17436032 |
|
|
0.11 |
0.1 |
hCV12119150 |
AGAGTCCTGCTCCACTCAGATGAGCAGATCCCAAGACAGG[C/T]CTTAAATCAAGGAGGGTGGGGTATGCAGGTGTGGAGTTGG |
C |
C |
C___2979984_10 |
|
|
5',3'-nucleotidase,
mitochondrial |
NT5M |
Intron |
17 |
17447692 |
0.49 |
0.23 |
0.46 |
0.46 |
hCV2979984 |
ACACCCTTGTTGATTTCTGACACTGGCAACCAACCCTTAA[G/C]TCACAGACCCTGTTACAGCTACAGAGGTTAACCAGCAGCA |
C |
C |
C__12119022_10 |
|
|
|
|
|
17 |
17491249 |
|
|
0.07 |
0.07 |
hCV12119022 |
TGATCAGTGTTTCCTGTATCCTCAGTGGCATCCTCTCATT[C/A]AGTATGCAGTAGGAGCATAATAGCATTGAGTGAATGAATG |
A |
A |
C___9457511_10 |
rs1242510 |
|
mediator
subunit 25|hypothetical protein FLJ10193 |
MED25|FLJ10193 |
|
17 |
17571971 |
0.24 |
0.17 |
0.42 |
0.32 |
hCV9457511 |
GTGGAGATGGACTAAATATGCAGAGTTACACTGGGCAACA[A/G]TGAGAAGAGGCCACAAGCCAGGCATGATAATCAGCCACAG |
A |
A |
C___9457181_10 |
rs1242490 |
|
RAS,
dexamethasone-induced 1|mediator subunit 25|hypothetical protein FLJ10193 |
RASD1|MED25|FLJ10193 |
Intron |
17 |
17593802 |
0.3 |
0.37 |
0.27 |
0.29 |
hCV9457181 |
TGCTAATTCATGTTTACTATTCATCATTTCTCTGCTTACG[C/G]AGGCAGAATATCCATCTTTCCTGGCGATCCATCAGTTACG |
G |
G |
C___1833323_10 |
rs2232831 |
|
RAS,
dexamethasone-induced 1|phosphatidylethanolamine N-methyltransferase|mediator
subunit 25|hypothetical protein FLJ10193 |
RASD1|PEMT|MED25|FLJ10193 |
|
17 |
17600615 |
0.28 |
0.32 |
0.27 |
0.27 |
hCV1833323 |
TTCCTATTCTCTGGGGAAACTGAGAACCAAAGAAAATAAG[T/A]GTACGCGCGCGGGAGGTGCAGGAATGGGGGTCCTTGCCCG |
A |
A |
C___9245965_10 |
rs7946 |
|
RAS,
dexamethasone-induced 1|phosphatidylethanolamine N-methyltransferase |
RASD1|PEMT |
Mis-sense
Mutation |
17 |
17610126 |
0.3 |
0.44 |
0.15 |
0.22 |
hCV9245965 |
GGGCCTGCTCCTGACGGTGCTGGTGGCCCTCACCTACATA[A/G]TGGCTCTCCTATACGAAGAGTGAGTAGGGGCTGCGGCGGG |
A |
A |
C___9245983_10 |
|
|
phosphatidylethanolamine
N-methyltransferase |
PEMT |
Intron |
17 |
17623334 |
0.48 |
0.47 |
0.48 |
0.38 |
hCV9245983 |
GGAGTCCTCCTGGGGTAGCTGGAGGAAGTCAGCTTCTTAC[C/A]GATGGTGGCTCCCAGCTTTCCCTCCTCTCATATCAGCGTT |
A |
C |
C___7443062_1_ |
|
|
phosphatidylethanolamine
N-methyltransferase |
PEMT |
Mis-sense
Mutation |
17 |
17626197 |
0.41 |
0.18 |
0.12 |
0.13 |
hCV7443062 |
GGCCTTCGGATCCCCCTACCTGGCCTGCTACTCTCTAAGC[A/G]TCACCATCCTGCTCCTGAACTTCCTGCGCTCGCACTGGTA |
A |
A |
C___7443070_10 |
rs747770 |
|
hypothetical
protein FLJ23022|phosphatidylethanolamine N-methyltransferase |
FLJ23022|PEMT |
Intron |
17 |
17646669 |
0.4 |
0.27 |
0.49 |
0.4 |
hCV7443070 |
GCAAAGGAGGGGGCGGCCCAGTCCCTGCAGGCTGCCCTCA[A/G]CCTGGGTTTGCTCATCTGTGAGATGGGATCACATGTATAA |
G |
G |
C___9246052_10 |
rs1531100 |
|
phosphatidylethanolamine
N-methyltransferase |
PEMT |
Intron |
17 |
17665394 |
0.48 |
0.37 |
0.35 |
0.3 |
hCV9246052 |
GCGTCAGTGACCCTCGTCTGTTCCCTCTTCCTACCTCCAG[C/T]CTTACCGTCCGCTTCCCCCTCGGGCAGCCACCCCAGGGCA |
T |
T |
C___9246076_10 |
|
|
phosphatidylethanolamine
N-methyltransferase |
PEMT |
Intron |
17 |
17673179 |
0.45 |
0.27 |
0.48 |
0.4 |
hCV9246076 |
CTCCATTGGGCCGGGGGTGGCTCCTGCACATGTGCTCCAG[A/G]GAGGAAAGGCATTTGACAGGTCAGCTGCAGACAGGTGTTC |
G |
G |
C___9246121_10 |
rs4924999 |
|
phosphatidylethanolamine
N-methyltransferase |
PEMT |
Intron |
17 |
17692568 |
0.44 |
0.2 |
0.12 |
0.07 |
hCV9246121 |
AGGGCCTAGGGGTGCGGGCACCCAGGCTGGCAGAGCACAC[C/T]GAGGTCCTCAGAGCAAGGGCACATGCCCAGGTCTCAGGTC |
C |
C |
C___9243639_10 |
|
|
|
|
|
17 |
17769578 |
0.48 |
0.32 |
0.06 |
0.1 |
hCV9243639 |
CATCCTGTTCTAAGCCCCTATCCTGCTGGCTGGTGGGCAA[C/T]TGAATCTCAGCCATTATTGGGAGCTTCTTTCTTCTCCAGA |
T |
T |
C___3085840_10 |
rs3803763 |
|
retinoic
acid induced 1 |
RAI1 |
Mis-sense
Mutation |
17 |
17897097 |
0.32 |
0.4 |
0.05 |
0.08 |
hCV3085840 |
CTGGACGCCGTAGCCAGGGAAAGCCGGCCTCCCCTGCAGG[C/G]CTTGCTGTGTGGGCAGGGCCTTGCTGCCTCGGTGGTACTT |
C |
C |
C___3085832_10 |
rs3818717 |
|
retinoic
acid induced 1|sterol regulatory element binding transcription factor 1 |
RAI1|SREBF1 |
Intron|Silent
Mutation |
17 |
17907671 |
0.46 |
0.24 |
0.02 |
0.08 |
hCV3085832 |
GGTAGTGGTAGGTGTGGAGGCATCCTTTGTGGCAGCACCC[G/A]ATGGTGGCCCCGGCTTCTTGGCAGCTGGAACACATCTGAT |
G |
G |
C__15877627_10 |
rs2282180 |
|
retinoic
acid induced 1|sterol regulatory element binding transcription factor 1 |
RAI1|SREBF1 |
Intron |
17 |
17921404 |
|
|
0.04 |
0.05 |
hCV15877627 |
TGGGGTCCCACAGTAAGGTGGGCAGAATCCTGACCCCCCC[C/T]TTCCCAGCCCCATGCTCTCTGGGGTCCCTCCGATTCTGCC |
#N/A |
#N/A |
C___1747822_10 |
|
|
sterol
regulatory element binding transcription factor 1 |
SREBF1 |
Intron |
17 |
17928509 |
0.42 |
0.48 |
0.06 |
0.07 |
hCV1747822 |
GAGGCAGGCTTTGCTGGTGGTCTACTTGGCTGCAAAATCA[T/A]CTGGCCAGGCTCTGATCACTTTGTGTGTGTGTGTGTGTGT |
T |
T |
C___1747817_10 |
|
|
sterol
regulatory element binding transcription factor 1 |
SREBF1 |
Intron |
17 |
17932217 |
0.42 |
0.31 |
0.07 |
0.07 |
hCV1747817 |
AGGTTTATAGGGTCAGACGGTCAGTATGTTGGGAGCTGGC[G/A]TGTGGAGGGGCACAGACAAGGGAAGAATGGGAGGTGGCAT |
G |
G |
C___1747802_10 |
|
|
target
of myb1-like 2 (chicken) |
TOM1L2 |
Intron |
17 |
17950985 |
0.43 |
0.45 |
0.03 |
0.06 |
hCV1747802 |
TCTCACTCCTTGGACTTGTCACCTTGTGACATTTGGCTTA[C/T]CAGCATTTGAGAAGGCTCTGCTGGGTCTCCATGGTGGGGG |
C |
C |
C__12113898_10 |
|
|
target
of myb1-like 2 (chicken) |
TOM1L2 |
Intron |
17 |
17961355 |
|
|
0.13 |
0.12 |
hCV12113898 |
AGAGGGTCCTTTCCTTCCTTTTACTGTCTCCGGAGCTCCG[A/G]GCAGTATTCACTTTTCCAGGATGAGCACAAGTTACTGTGG |
G |
G |
C___1747778_10 |
|
|
target
of myb1-like 2 (chicken) |
TOM1L2 |
Intron |
17 |
17980024 |
0.42 |
0.21 |
0.03 |
0.06 |
hCV1747778 |
GAAAGCCTGAGTTTGGCTTTCTGGGATCTTTAAAGATTGC[G/A]ATTATGTCATCCAGTGTCCTCTGTCTCTCCCAATTTAGCC |
A |
A |
C___1747777_10 |
|
|
target
of myb1-like 2 (chicken) |
TOM1L2 |
Intron |
17 |
17980270 |
0.42 |
0.21 |
0.03 |
0.06 |
hCV1747777 |
CAGTCTCCACATGGAACAAATGTGGCATTTGGCAGCATTT[G/C]GCAGCCCACCACAGGGAGGGATAGGCAGTTCTTCACAAGA |
C |
C |
C__12113932_10 |
|
|
target
of myb1-like 2 (chicken) |
TOM1L2 |
Intron |
17 |
17995010 |
0.4 |
0.35 |
0.11 |
0.13 |
hCV12113932 |
GCCATGGGGACCTGAGCAGAACAGGGCCTTGAGATGCCTC[A/G]CAAGCTTCTGCCTGGCTGGACAGTTTCCTGGTCCAGCTGT |
G |
G |
C___3085817_10 |
rs2350977 |
|
target
of myb1-like 2 (chicken) |
TOM1L2 |
Intron |
17 |
18003345 |
0.41 |
0.5 |
0.11 |
0.13 |
hCV3085817 |
TAAGAGTAATTAAGGAAGAACTCACTCCAACTTCCAAACA[A/G]CTCCACTCCAACTTTTGGACAGAGCCCATTTGTGAACTGA |
A |
A |
C____401534_10 |
|
|
target
of myb1-like 2 (chicken) |
TOM1L2 |
Intron |
17 |
18039590 |
0.41 |
0.19 |
0.03 |
0.06 |
hCV401534 |
CTTATGTCCTAATGGCTCTTGGAGCATGATGGCATCATTG[T/G]TGGACTTTAGAGATGGTATAATAAGGTGTATAATTCAGCT |
G |
G |
C____401535_10 |
|
|
target
of myb1-like 2 (chicken) |
TOM1L2 |
Intron |
17 |
18041389 |
0.41 |
0.36 |
0.11 |
0.13 |
hCV401535 |
CCCACTGGTGACACAAAAAGGCAGGAAAGAACCTTTGTTT[C/A]ATCTGGTTCATATGTGACAGCCTTCATTTGCTACAGATCT |
C |
C |
C_____49570_10 |
|
|
hypothetical
protein DKFZp586M1120|target of myb1-like 2 (chicken) |
DKFZP586M1120|TOM1L2 |
Intron |
17 |
18068180 |
0.4 |
0.5 |
0.11 |
0.13 |
hCV49570 |
ATACATTGCCCAGAGGAGCATCAGTTAGGGGTTGTTGCTC[C/T]TGACCTAGCAGATAAATCACCCAGAAATGTTGCGCTAACC |
T |
T |
C____445521_10 |
|
|
hypothetical
protein DKFZp586M1120|target of myb1-like 2 (chicken) |
DKFZP586M1120|TOM1L2 |
Intron |
17 |
18075052 |
0.36 |
0.44 |
0.07 |
0.06 |
hCV445521 |
CTGCACATTGACTGTTGCTTCCTCCCCCACCTCATATTAA[A/G]TTTACCAAAGCTGAAATCTTTTGTTGGCAATGTAGAGAGA |
G |
G |
C__12124733_10 |
|
|
hypothetical
protein DKFZp586M1120|target of myb1-like 2 (chicken) |
DKFZP586M1120|TOM1L2 |
Intron |
17 |
18085367 |
0.32 |
0.5 |
0.41 |
0.31 |
hCV12124733 |
ACCTAGGGGCCGGCCAGGGCAACTATGCATGCAGCTTGCA[C/T]GGCTACAGCGTCATCCCTGCTGCCCATCCCTTGCTGCTGC |
T |
T |
C__12124730_10 |
|
|
hypothetical
protein DKFZp586M1120 |
DKFZP586M1120 |
Silent
Mutation |
17 |
18096656 |
0.33 |
0.36 |
0.12 |
0.07 |
hCV12124730 |
TCCTAGAGAGGCTGAGCGTCCGCAGGCACTTGAACCGCCG[A/G]AGGTAGATGATCTGGGGAGAAAAAGGGAGAAAGGCCCATT |
G |
G |
C__12124727_10 |
|
|
hypothetical
protein DKFZp586M1120 |
DKFZP586M1120 |
Mis-sense
Mutation |
17 |
18096771 |
0.33 |
0.37 |
0.12 |
0.07 |
hCV12124727 |
ACTGAGAGGGAGACACTTGCTGTGTGGTCATCAATGCGCC[A/G]GTAGTCCAGGTACATGAGGTCAGGAAGGTAGGCACAGATG |
G |
G |
C__12125829_10 |
|
|
ATP
synthase mitochondrial F1 complex assembly factor 2|hypothetical protein
DKFZp586M1120 |
ATPAF2|DKFZP586M1120 |
|
17 |
18112577 |
0.33 |
0.5 |
0.1 |
0.06 |
hCV12125829 |
TGTTTTCCTGTGTCTGGTCAATAGCAATTAGCTGCAGTTA[T/A]CAGCTTAGGGAGGGAAGGCTGGTGTCACGGTGACCCTATC |
T |
T |
C__16171175_10 |
rs2955384 |
|
ATP
synthase mitochondrial F1 complex assembly factor 2|hypothetical protein
MGC3048 |
ATPAF2|MGC3048 |
Intron |
17 |
18140139 |
0.3 |
0.36 |
0.12 |
0.07 |
hCV16171175 |
CCGGCCCCCGACCCCCACGTGTTCTCTCTAAAGACCTTAC[T/C]AGTTGTGAGATATTTGTGCGTATTTGAAGTAGTAGAAGAT |
C |
C |
C__16171131_10 |
rs2955358 |
|
ATP
synthase mitochondrial F1 complex assembly factor 2|hypothetical protein
MGC3048 |
ATPAF2|MGC3048 |
Intron |
17 |
18147189 |
0.33 |
0.48 |
0.1 |
0.04 |
hCV16171131 |
TGTAAATTGGCTAACATTTTGCATGGATTATCACATGCTC[A/G]AGAATCAGAATTTCAGCTTGGCCTCCATTCAACCAAGCGT |
G |
G |
C__12115996_10 |
|
|
developmentally
regulated GTP binding protein 2 |
DRG2 |
Silent
Mutation |
17 |
18197775 |
0.42 |
0.22 |
0.05 |
0.05 |
hCV12115996 |
CATCACCCGACTTCATGACATCAAAGCCCTCTCCTTTGGA[C/T]GAGGCCGATTTGGACGGTTCCAGGAGCTGGGCCCGATACT |
T |
T |
C__15962618_10 |
rs2272570 |
|
developmentally
regulated GTP binding protein 2|myosin XVA |
DRG2|MYO15A |
Intron |
17 |
18204237 |
0.08 |
0.09 |
0.24 |
0.23 |
hCV15962618 |
TGCCCACAGACTCCAGCTCCTTCTCCAGCAGAGACCTAGG[C/A]AGAGTACCCCTTAAGCCCCTCACAGGCTGTCCACAGAGCC |
#N/A |
#N/A |
C__11952440_10 |
|
|
developmentally
regulated GTP binding protein 2|myosin XVA |
DRG2|MYO15A |
Intron |
17 |
18209594 |
0.34 |
0.46 |
0.44 |
0.36 |
hCV11952440 |
|
#N/A |
#N/A |
C___2601374_10 |
rs854764 |
|
developmentally
regulated GTP binding protein 2|myosin XVA |
DRG2|MYO15A |
|
17 |
18212316 |
|
|
0.06 |
0.05 |
hCV2601374 |
GCCTTCCCCGCTGCTCAGAGGTCTTAAATCCGGGGTCTGC[G/A]CTCACAAACTGTGCAGCCTACACCAGCTTCTGGGGGACAG |
G |
G |
C___2601386_10 |
|
|
myosin
XVA |
MYO15A |
Intron |
17 |
18222448 |
0.33 |
0.4 |
0.44 |
0.33 |
hCV2601386 |
|
#N/A |
#N/A |
C___2601388_10 |
rs712268 |
|
myosin
XVA |
MYO15A |
Intron |
17 |
18226310 |
|
|
0.3 |
0.29 |
hCV2601388 |
CTCTTGCCCTGTTTCCTAGGCCAGAACCCTCAAACCCTCC[C/G]TGTAATCTGTGCCTCCATACCTTGTTCCGCCAGCTTGGCG |
G |
G |
C___7443167_1_ |
rs854793 |
IMS-JST014892 |
myosin
XVA |
MYO15A |
Intron |
17 |
18231090 |
0.19 |
0.33 |
0.27 |
0.43 |
hCV7443167 |
AGGAGCCTTGCCTCTTCGGGAGTACATGAGGTGTGCTTAT[T/C]AAAGGGTGTTCAGCCTAGGGTCCTGGGGAGACAGGTAGAC |
T |
T |
C___2601396_1_ |
rs2280777 |
IMS-JST029125 |
myosin
XVA |
MYO15A |
Silent
Mutation |
17 |
18242073 |
0.48 |
0.45 |
0.46 |
0.43 |
hCV2601396 |
CACTGGTCGTCAAGGATCCGCAGGATGCCATAAGGCTTCA[G/A]TGAGATGAGGTTGATGCAGGGCTGGTTGTCAGCAAAGGTG |
G |
G |
C___2601398_10 |
rs854783 |
|
myosin
XVA |
MYO15A |
Intron |
17 |
18243093 |
|
|
0.46 |
0.44 |
hCV2601398 |
GGCAGGAATGTGCCTCAGATAATAGTGATGAGGGTGACCA[C/T]AGTGATGTCACTATTGATGAGCTACTCTTTATCAAACCCA |
T |
T |
C___7443202_1_ |
rs854779 |
IMS-JST029126 |
myosin
XVA |
MYO15A |
Intron |
17 |
18244836 |
0.4 |
0.42 |
0.09 |
0.15 |
hCV7443202 |
AGTCTGCACATTGGCTCAGCCATGTGCAAAAGGCATTATC[G/A]TGGTGAATATTCCCAGTGCTAGGCTGGGCAGATGCAGGTC |
G |
G |
C___2601404_1_ |
rs854774 |
IMS-JST008733 |
myosin
XVA |
MYO15A |
Intron |
17 |
18252541 |
0.27 |
0.28 |
0.46 |
0.42 |
hCV2601404 |
GAGATCCTGGGTTATAAGCCAGACCCTAAACATGAACAGA[A/G]TGGACCCTATGGGACCCTCTGGGGGATCTGACCTCCCCCC |
A |
A |
C___7443257_1_ |
rs854795 |
IMS-JST046998 |
myosin
XVA |
MYO15A |
Intron |
17 |
18270628 |
0.41 |
0.36 |
0.09 |
0.19 |
hCV7443257 |
TGCTGTTTGGGGGCAGCTTGCTGGGAAGGACTTAAATAAG[T/C]CAGGAAGCACAGATGGAGGGATGGCATGCGCAAAGGCTCT |
C |
C |
C___2601427_10 |
rs854803 |
|
hypothetical
protein FLJ20308|myosin XVA |
FLJ20308|MYO15A |
Intron |
17 |
18289796 |
|
|
0.41 |
0.42 |
hCV2601427 |
ACCAAGCTGCTCTGAGAACAGCTGCGGTCTAAACCTAAGA[T/G]GTTTTGGGTATTACTGAATTACATTACTAGGTTTACCTTT |
T |
T |
C___7443286_10 |
rs1378601 |
|
hypothetical
protein FLJ20308 |
FLJ20308 |
|
17 |
18322492 |
0.4 |
0.38 |
0.11 |
0.18 |
hCV7443286 |
GACTCTCAGCCCTGACACTCGCTGAGCCTGGATCCTGAGT[A/G]TGCTTTTCTTGGCTCATGCTGGGCTACAGGAACGGGGATC |
G |
G |
C___1633119_10 |
rs2605135 |
|
lethal
giant larvae homolog 1 (Drosophila) |
LLGL1 |
|
17 |
18331653 |
|
|
0.5 |
0.33 |
hCV1633119 |
CCTCAGCGGAGGGCCCTTACTTTCCGCCACCCCAAGGCTA[A/G]CCAGAGTGGGCTGAGCTTCACCCCCATCTGTCTCCAGCCC |
A |
G |
C___1633117_10 |
rs2746027 |
|
lethal
giant larvae homolog 1 (Drosophila) |
LLGL1 |
Intron |
17 |
18335967 |
0.33 |
0.2 |
0.09 |
0.16 |
hCV1633117 |
CAGCTCCGTGTGTCTATGGGTTCTGGGAGCTGCGCCTTGC[C/T]GGATGGGATCAGGCAGGCCAGAGGTGCAAGGCCAGGCCTG |
T |
T |
C___1633116_1_ |
rs2290503 |
IMS-JST042507 |
lethal
giant larvae homolog 1 (Drosophila) |
LLGL1 |
Intron |
17 |
18336319 |
0.3 |
0.14 |
0.37 |
0.18 |
hCV1633116 |
CAAGGTGGAAATAGGCATAGACCAGCAAACCACAGTGAGG[A/G]AGACACCCAAGGCTCCTCCTTGACCCGGACTATTCCAGTG |
A |
A |
C__12122759_1_ |
rs2245430 |
IMS-JST042513 |
flightless
I homolog (Drosophila)|lethal giant larvae homolog 1 (Drosophila) |
FLII|LLGL1 |
Intron |
17 |
18342271 |
0.28 |
0.18 |
0.41 |
0.4 |
hCV12122759 |
CTGTCTCCCTAGCACCCCAGTGGCTTGCATCCTGCTTTGC[A/G]CCCTACGTTCTGTTACCATTCCTCTACCACCCAGCTTAGT |
A |
A |
C__16262008_10 |
rs2245737 |
|
flightless
I homolog (Drosophila)|lethal giant larvae homolog 1 (Drosophila) |
FLII|LLGL1 |
Intron |
17 |
18345286 |
0.39 |
0.27 |
0.48 |
0.31 |
hCV16262008 |
|
#N/A |
#N/A |
C___1633108_10 |
|
|
flightless
I homolog (Drosophila)|lethal giant larvae homolog 1 (Drosophila) |
FLII|LLGL1 |
Intron |
17 |
18354458 |
0.09 |
0.06 |
0.07 |
0.16 |
hCV1633108 |
GGGGCAGAATTCAGCCGGGCAAGGATAAGGGTACAGGCTG[A/G]GCATGGGAGCTAGACCAGTGGGCTGACACAGGGGAGCTGA |
A |
A |
C__15925816_10 |
rs2746024 |
|
Smith-Magenis
syndrome chromosome region, candidate 7|flightless I homolog
(Drosophila)|topoisomerase (DNA) III alpha |
SMCR7|FLII|TOP3A |
Intron |
17 |
18364714 |
|
|
0.1 |
0.1 |
hCV15925816 |
GCCCTTGGTCCCCCAAAGGTCCCCTCCCCGCCTTCCCCAG[C/A]GGTGATCGCGGGCCACGCCCCCGATCTGCGTTCCGTCGCG |
A |
A |
C__16261997_10 |
rs2605141 |
|
Smith-Magenis
syndrome chromosome region, candidate 7|flightless I homolog
(Drosophila)|topoisomerase (DNA) III alpha |
SMCR7|FLII|TOP3A |
Intron |
17 |
18364805 |
0.34 |
0.17 |
0.49 |
0.43 |
hCV16261997 |
GCAGCAGCCCTAGGTGGGCGGGTGACGCCCCGTTCGCAGG[A/G]TAAACCAAGAGACCGAGAGGGGAAGGGGGCTGGGCTAGGA |
A |
G |
C___1633100_10 |
|
|
Smith-Magenis
syndrome chromosome region, candidate 7|topoisomerase (DNA) III alpha |
SMCR7|TOP3A |
|
17 |
18374500 |
0.26 |
0.33 |
0.11 |
0.1 |
hCV1633100 |
CCGGCCGAAGACCTGGGATGTTCACATTCAGCTGGATCTC[C/T]AGGTTTCTTGGACTGGAACACAGGTGGCCCCAGCTCAATA |
T |
T |
C___1633099_10 |
rs941451 |
|
Smith-Magenis
syndrome chromosome region, candidate 7|topoisomerase (DNA) III alpha |
SMCR7|TOP3A |
|
17 |
18374546 |
|
|
0.13 |
0.11 |
hCV1633099 |
CCCCACTGCCCTTTGGGATGAATTCACCACCTGCCTCTTA[C/T]AGAATCCGGCCGAAGACCTGGGATGTTCACATTCAGCTGG |
C |
C |
C___1633096_10 |
|
|
topoisomerase
(DNA) III alpha |
TOP3A |
Intron |
17 |
18384577 |
0.24 |
0.35 |
0.11 |
0.1 |
hCV1633096 |
AAAGGCTGCCTTAGCTGATGGCCAACAGCGGAGAGCATCT[A/C]CTGCACTCCTATCATCTGACATGGCACTTTGTCCCCAGGT |
A |
A |
C__16188697_10 |
rs2294914 |
|
topoisomerase
(DNA) III alpha |
TOP3A |
Intron |
17 |
18389450 |
0.1 |
0.07 |
0.08 |
0.16 |
hCV16188697 |
|
#N/A |
#N/A |
C__16188696_10 |
rs2294913 |
|
topoisomerase
(DNA) III alpha |
TOP3A |
Intron |
17 |
18403562 |
|
|
0.35 |
0.19 |
hCV16188696 |
TCTAGAAGGATTGGCATGGGCTATCCATAGGAAGGATGGA[A/G]ATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGG |
A |
A |
C___3063148_10 |
rs3794771 |
|
Smith-Magenis
syndrome chromosome region, candidate 8|topoisomerase (DNA) III alpha |
SMCR8|TOP3A |
Intron |
17 |
18417752 |
0.27 |
0.45 |
0.1 |
0.1 |
hCV3063148 |
AAAATATCTCAGATAACAAAAGTAGATCCTGAAATGGTTT[T/C]CTGGAGAACTTTTCTAAGAGCATGGGTGGAAGTTCCCTGC |
C |
C |
C___7443351_10 |
rs1563634 |
|
Smith-Magenis
syndrome chromosome region, candidate 8|topoisomerase (DNA) III alpha |
SMCR8|TOP3A |
UTR
5 |
17 |
18419370 |
|
|
0.48 |
0.44 |
hCV7443351 |
TCGTCCGGCGAGCGCGGCCAGCACAAGAAACCTGCTGCGA[A/G]ATCACCTGCACTCTCCGGAACCCACTGCGACAGCAAAAGC |
A |
G |
C___3063124_10 |
|
|
Smith-Magenis
syndrome chromosome region, candidate 8|serine hydroxymethyltransferase 1
(soluble) |
SMCR8|SHMT1 |
Intron |
17 |
18434376 |
0.24 |
0.19 |
0.11 |
0.1 |
hCV3063124 |
TTCTCCTTCACTCCTCTCCCATCTGCATTTCTTCTGGCCA[A/G]AGTTGTAGCTGATGAATATATTGGCTCCGGGGACAGACCT |
G |
G |
C___3063122_1_ |
rs2273028 |
|
serine
hydroxymethyltransferase 1 (soluble) |
SHMT1 |
Intron |
17 |
18439578 |
0.26 |
0.45 |
0.11 |
0.11 |
hCV3063122 |
AGCCTAAAAAGAAAAAGAGGGGACAGCCCCTATGATCCCA[T/C]TGTGATGTTTTTCTTCCTCCAGGAGTGAAAAGTGTGGATC |
T |
T |
C__12122609_10 |
rs4924750 |
|
serine
hydroxymethyltransferase 1 (soluble) |
SHMT1 |
Intron |
17 |
18461319 |
0.23 |
0.19 |
0.1 |
0.1 |
hCV12122609 |
AGATGATCCCAACTGCCTATATCCTGTTCATCATTAACTT[G/C]TGTGTCCCAAAAAATCTTTTGAAAAGTTGCTAAATAGTGA |
C |
C |
C____800747_10 |
rs643333 |
|
serine
hydroxymethyltransferase 1 (soluble) |
SHMT1 |
|
17 |
18467605 |
0.22 |
0.07 |
0.1 |
0.08 |
hCV800747 |
CCTGGAAATCTTGGTCCACACACCAGCCCTGCAGCCAAAG[A/C]GGGTCAGTTCTGCAGGTCCCTGCCCCAGGTGCGCAGCTGC |
A |
A |
C___1129724_10 |
|
|
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
18968084 |
0.45 |
0.44 |
0.3 |
0.32 |
hCV1129724 |
TTATGGAGGTCACATGTATAAATGCATAGAAAAAGTCTTA[T/A]GTTGTCCCTACCAAACTGATAAGAACCCTCACTTCTGGGG |
A |
A |
C__15976376_10 |
rs2305062 |
|
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
18971096 |
|
|
0.42 |
0.31 |
hCV15976376 |
|
#N/A |
#N/A |
C___1129714_1_ |
rs2305064 |
IMS-JST062236 |
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
18971299 |
0.47 |
0.44 |
0.26 |
0.27 |
hCV1129714 |
TGGCATATTGGCTCCGTCCTTCATCCTTTACTATTGAAAC[G/A]ATTTGATTCAGTTGTACATTTCCATTAGCAAGAAGTCAGG |
A |
A |
C___1129699_10 |
|
|
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
18979059 |
0.45 |
0.43 |
0.26 |
0.31 |
hCV1129699 |
AACATGGACAAGACTGAGAACCCGAGTTAACACAAGCTTA[C/T]GTCAGGTATGGAACAATGCAAAATGAGACACGGAGAGAAA |
G |
G |
C__12115600_10 |
rs3826380 |
|
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
18993791 |
0.47 |
0.47 |
0.29 |
0.29 |
hCV12115600 |
GAAGAGGTAGGTGGGAATCTCACAACCTCTTTCTGGATCT[A/G]CTTCTAAGGATTGTATCCGTGATGAGTTCCAGGCATTCTA |
G |
G |
C____150355_10 |
|
|
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
19006086 |
0.15 |
0.19 |
0.08 |
0.03 |
hCV150355 |
TAGTAACCTCTAGAGTCCTCAGTTTACTTCTGTCACCCAC[C/G]TGTTCACAGAGGGATGGATGTAGTAGCCTTTTGCTCAGTT |
G |
G |
C___2554357_10 |
|
|
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
19012268 |
0.47 |
0.43 |
0.27 |
0.28 |
hCV2554357 |
TTGAGCCAATAGTTTCTCTTCCTGAGCAAGAAATTAAAAC[G/A]CTGGAGGAAGATGAAGAACTTTTAAAAATGCAGACGAAAC |
G |
G |
C____131986_10 |
rs2469862 |
|
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
19022391 |
0.07 |
0.13 |
0.42 |
0.33 |
hCV131986 |
GCCCCTGGAGGGAAGAGATGGACTAAGATAGCAGTATCTG[T/C]GGGGAGCCAACCAAGGAGGACTTTGAATACCAGTAAATAC |
T |
C |
C__12123123_10 |
|
|
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
19023728 |
0.14 |
0.19 |
0.08 |
0.03 |
hCV12123123 |
CTGGACATGTCTGACTAAAACCTGTGCTTTTTCCACTGTG[C/T]TCTTGGGTCTCTTGGACTTAGTAATGGGGATTTAAGGAGG |
C |
C |
C___2987740_10 |
|
|
phosphoribosyl
pyrophosphate synthetase-associated protein 2 |
PRPSAP2 |
Intron |
17 |
19029269 |
0.1 |
0.07 |
0.08 |
0.03 |
hCV2987740 |
TGATGTGAAAGCTGCCCATCTTGATCCTGTAGTCAGCCAT[G/A]AGGGCTTGTGGCCTTAAATGCTGCCTTTTTTTCTTGTCTT |
A |
A |
C___2987697_10 |
rs1634418 |
|
solute
carrier family 5 (sodium/glucose cotransporter), member 10|hypothetical
protein FLJ25217 |
SLC5A10|FLJ25217 |
|
17 |
19053744 |
0.26 |
0.33 |
0.17 |
0.27 |
hCV2987697 |
CTGCCCAGCTCATCACATGGTTGGTCATGCCTTGGTCACA[A/G]TTCTGAAGCACTTAAGAAAGAAACTCATAAGCTCATAGAT |
G |
G |
C___2987696_10 |
rs1634417 |
|
solute
carrier family 5 (sodium/glucose cotransporter), member 10|hypothetical
protein FLJ25217 |
SLC5A10|FLJ25217 |
|
17 |
19054421 |
0.35 |
0.42 |
0.44 |
0.48 |
hCV2987696 |
GTCCTCCTGATCAGTGCAAAGCAGCCTTTTGTTTTAAAAC[C/A]CATTGCAAGCAATGGCTTGGGAAGTAAACACCATCTGAGG |
C |
C |
C___2987670_1_ |
|
|
solute
carrier family 5 (sodium/glucose cotransporter), member 10|hypothetical
protein FLJ25217 |
SLC5A10|FLJ25217 |
Intron |
17 |
19075286 |
0.5 |
0.27 |
0.16 |
0.15 |
hCV2987670 |
TGCGGTGGTCCCGGGGGGCTTGAGCCCTCCGTTTAGAATC[C/G]GATGAGGCCCACTGGCTACCGCCCGTCCTGGCCTTTAGGT |
C |
C |
C___2987665_10 |
rs2469860 |
|
solute
carrier family 5 (sodium/glucose cotransporter), member 10|hypothetical
protein FLJ25217 |
SLC5A10|FLJ25217 |
Intron |
17 |
19081227 |
0.46 |
0.35 |
0.34 |
0.23 |
hCV2987665 |
CACAGGCTTTGGAGACCTCTAGGTGGGGAAACGTGCATTT[T/C]CTTAGGTTGCCTTTTCAGGATGCTGGGACCAAGAGTCCCC |
T |
T |
C__25766536_10 |
|
|
solute
carrier family 5 (sodium/glucose cotransporter), member 10|hypothetical
protein FLJ25217 |
SLC5A10|FLJ25217 |
Intron |
17 |
19091884 |
0.17 |
0.43 |
0.13 |
0.14 |
hCV25766536 |
AAATAACATGATGCAGCACTTGGCATGAGCTCCAGCACCT[G/T]GTCAGCAAGCACCTAATCAGTGTTTATTTTATCTCTGCCA |
T |
T |
C___2987640_10 |
|
|
solute
carrier family 5 (sodium/glucose cotransporter), member 10|hypothetical
protein FLJ25217 |
SLC5A10|FLJ25217 |
Intron |
17 |
19114475 |
|
|
0.23 |
0.11 |
hCV2987640 |
ACTTGGTCAAACCAGTGGGACTCGGGGCGGTTTCCCATGC[C/T]GAGAGCCTGGAATGGGCTGAAGAAACTCACAAAGAATCTC |
T |
T |
C___8716698_10 |
rs1027872 |
|
|
|
|
17 |
19305658 |
|
|
0.17 |
0.1 |
hCV8716698 |
AGGGGTGTGAAGGACCACGATTGTTGTCATTTTATGACAT[G/A]TATACCTGGTGACCCTGAGCCTTGGAGAAGTCAAAGGGCT |
A |
A |
C___1564520_10 |
|
|
epsin
2 |
EPN2 |
|
17 |
19336151 |
0.06 |
0.01 |
0.12 |
0.13 |
hCV1564520 |
GCTGCTGGTGTCGCTCCTGAGTCCAGCTGTAAGGGGCATC[G/A]AGTGGATTCTCAGGCCCCGTGGTGCCTGGGCTTCGGCAGG |
A |
A |
C__12114942_10 |
|
|
B9
protein|epsin 2 |
EPPB9|EPN2 |
|
17 |
19403488 |
0.06 |
0.03 |
0.12 |
0.11 |
hCV12114942 |
GCCCTTCCCCCAACAATAACAACAAAGCAGGGCAGGGGTC[G/A]GTACCCACAGTCCAGCTCCATTTGGAGGAGCAGAGAATGG |
G |
G |
C___2560172_10 |
rs1295329 |
|
zinc
finger protein 179 |
ZNF179 |
Intron |
17 |
19481044 |
|
|
0.13 |
0.14 |
hCV2560172 |
GGACTCCTGGTCAGGGCACCTTCTTTTCCCCTCCCTGTCA[C/T]AGGACGTAGCCACCAAGCGCATATTCTCTGCGCTGCGGGT |
T |
T |
C___2560170_10 |
|
|
zinc
finger protein 179 |
ZNF179 |
|
17 |
19482908 |
0.01 |
0.27 |
0.32 |
0.41 |
hCV2560170 |
TGTCTCCTCTCTGAGAAACTGCTTCCCATGATCCTGTCAA[C/G]AGGCAGTCAACAAGCACCTGTCCCAGCAAGAGGACAGAAT |
C |
C |
C___2560159_10 |
|
|
|
|
|
17 |
19504811 |
0.01 |
0.31 |
0.29 |
0.27 |
hCV2560159 |
ATTAGGAGAAAAGAAGAATACATTGTTCCTCATTCGGAGG[A/G]TCTATCTGTATGGGAACCACAGAAAAGAAGGAACGGTTAA |
G |
G |
C___2969298_10 |
rs2453611 |
|
|
|
|
17 |
19554845 |
0.27 |
0.48 |
0.3 |
0.21 |
hCV2969298 |
GGGACAGCCTTGCCTGCCCCTCCCCCTGCCAGCAGGAATC[A/C]GTGGCACAGGCACAGGCTACTAATGTGGGTGTTAACAAGA |
A |
A |
C___7443573_10 |
rs894680 |
|
hypothetical
protein FLJ10847 |
FLJ10847 |
Intron |
17 |
19602567 |
|
|
0.25 |
0.14 |
hCV7443573 |
GCTCAGGGAAATGTTTCCACTTGTGTGGGAAGGAGCTGGC[G/A]GACCTTCTAGGGTTACAGGGCAGAAATATCAGAGAAGGCA |
A |
A |
C___9246994_10 |
rs2440154 |
|
hypothetical
protein FLJ10847 |
FLJ10847 |
Intron |
17 |
19607016 |
0.41 |
0.22 |
0.13 |
0.15 |
hCV9246994 |
GTGGACGATCTCATCGCTACCTCCAGCTCCTCCTGTCTAC[A/G]GACTTCCTTGCTGGAATGTGTTCTTGTTGTTGAAGGCTGT |
A |
A |
C___9247025_10 |
|
|
hypothetical
protein FLJ10847 |
FLJ10847 |
Intron |
17 |
19627220 |
0.37 |
0.41 |
0.47 |
0.49 |
hCV9247025 |
TTTGTTTCCAGTGATAAGAATCCTCTTGGTTTCTTAGTAT[T/C]GGCCAAAGTGCCCGGTTTGTAGTAGTTGCATAATATGTTT |
C |
T |
C____582244_10 |
rs716126 |
|
hypothetical
protein FLJ10847 |
FLJ10847 |
Intron |
17 |
19635520 |
0.42 |
0.48 |
0.08 |
0.04 |
hCV582244 |
GCAGGCTGATCATACCTGAAAAATGTGATTGGTACCAAGA[A/C]ACAGAGCTGTAAAACCTGTACCGAATCCATAAACCAGGAA |
C |
C |
C__11952398_10 |
|
|
hypothetical
protein FLJ10847 |
FLJ10847 |
Intron |
17 |
19635549 |
0.21 |
0.11 |
0.21 |
0.38 |
hCV11952398 |
TGGTACCAAGAAACAGAGCTGTAAAACCTGTACCGAATCC[A/G]TAAACCAGGAACCCAGACTAGCCACCTTAACCCTTACATA |
G |
G |
C__12115726_10 |
|
|
|
|
|
17 |
19658049 |
0.37 |
0.22 |
0.45 |
0.48 |
hCV12115726 |
GAAAAGGAGAAGAAAATTTAGGAATGGATTAACAAAGGGT[A/C]AAATGGAGGATTGGGTAGGGGAGTGGAATGGAAAAATAGA |
A |
A |
C___9247052_10 |
|
|
aldehyde
dehydrogenase 3 family, member A2 |
ALDH3A2 |
|
17 |
19708129 |
0.36 |
0.23 |
0.47 |
0.47 |
hCV9247052 |
GTTAGGAAAGGTGTCCAAGGCAGTCTGAGGCTTCAATTCA[T/C]GTCTGTTGTCTTAAACACCTTTCATAAAATCTGCTATTCC |
C |
C |
C__15870671_10 |
rs2072332 |
IMS-JST008291 |
aldehyde
dehydrogenase 3 family, member A2 |
ALDH3A2 |
Intron |
17 |
19721652 |
0.37 |
0.23 |
0.43 |
0.49 |
hCV15870671 |
TTACTGAATGTTACATGTTTATGTTGAAGAGATTGCTGAT[A/G]TTAGACGTTAGGATTTATTTGGCAGTGCAAGAGTTTGTGT |
#N/A |
#N/A |
C___2593991_10 |
|
|
aldehyde
dehydrogenase 3 family, member A2 |
ALDH3A2 |
Intron |
17 |
19722881 |
|
|
0.49 |
0.47 |
hCV2593991 |
AGTACTGTTTGCCGTGAGCTGGCCTGAGAACTTCCCTGCT[A/G]TGTAAAATATTCCACCTCATTTGGAAAATACTTTCTAAGT |
A |
G |
C___2593986_10 |
|
|
aldehyde
dehydrogenase 3 family, member A2 |
ALDH3A2 |
Intron |
17 |
19731055 |
0.36 |
0.23 |
0.48 |
0.47 |
hCV2593986 |
AGAACATGACCTGCCTGCCTCTCCCACATGTGAGATGACT[G/A]ACTCAGCTTTTTATTTCTCCTTTGGGACCTAGGCTAGGTG |
G |
A |
C___7443687_10 |
rs7215 |
|
aldehyde
dehydrogenase 3 family, member A2|hypothetical protein FLJ31196 |
ALDH3A2|FLJ31196 |
UTR
3 |
17 |
19742523 |
0.34 |
0.42 |
0.17 |
0.06 |
hCV7443687 |
CTTGGAGCTCCTGACTGCAGGGACTCTGTCCCCACACTCA[A/G]AAAGACTCAGCTCACTCAATGAGAGAATGTGATTTACTTT |
A |
A |
C___9247125_10 |
|
|
hypothetical
protein FLJ31196 |
FLJ31196 |
Intron |
17 |
19766824 |
0.4 |
0.29 |
0.36 |
0.41 |
hCV9247125 |
AGTAGATTTGTAATGAGTTGGTAATTATTATGCAAGTGTT[C/T]TTTCCCCAGGTAGGGAAAGGGCTGGAATGCGCCAGTATTG |
C |
C |
C___2593948_10 |
rs758426 |
|
hypothetical
protein FLJ31196 |
FLJ31196 |
|
17 |
19782653 |
|
|
0.36 |
0.45 |
hCV2593948 |
CTCACTATGCACGCCAGTCACTGTGCCCAGCAAGGCTGTG[A/T]CTCGACGTCCCACAGGGTCCTCTGTCACCTTCCCAAATTG |
T |
T |
C___2593942_10 |
|
|
hypothetical
protein FLJ31196 |
FLJ31196 |
|
17 |
19789936 |
|
|
0.08 |
0 |
hCV2593942 |
ACTGTCCTCATCGGGCGGAGACCGGCTGGCATGAAACACC[A/G]GGCTTTTTGAGGTCAAAGCGAGGCTTCGCCCACGCACGTG |
A |
A |
C___2977572_10 |
|
|
aldehyde
dehydrogenase 3 family, memberA1 |
ALDH3A1 |
|
17 |
19793449 |
0.38 |
0.27 |
0.41 |
0.45 |
hCV2977572 |
AGGCAGGGCCCAATGGGTGTGGGTGAAAGCTGCACATCCA[A/G]AAGTACACGGCTTCCCCCAGGCACCGCAGATCCTGGCCCT |
G |
G |
C__15870661_10 |
rs2072329 |
IMS-JST008288 |
aldehyde
dehydrogenase 3 family, memberA1 |
ALDH3A1 |
Intron |
17 |
19806910 |
0.43 |
0.15 |
0.23 |
0.38 |
hCV15870661 |
ATGTGGGATATGGAGGTGGTCAGAGCCCTGGCTAGGGTCA[G/C]GAGGTGCAGATACGGGTTCTGCCCCAGACCCCGAGCAGCG |
#N/A |
#N/A |
C__15870660_10 |
rs2072328 |
|
aldehyde
dehydrogenase 3 family, memberA1 |
ALDH3A1 |
Intron |
17 |
19807652 |
|
|
0.32 |
0.16 |
hCV15870660 |
CAAGTGTGGGTGAGTTGCAGTGGCCAAGACCAGCAGCCCC[G/A]AAGCTCAGCACCCCACCTTGGGCGGGGGGTAGCAGTAACT |
#N/A |
#N/A |
C___2977316_10 |
|
|
aldehyde
dehydrogenase 3 family, memberA1 |
ALDH3A1 |
|
17 |
19813931 |
|
|
0.36 |
0.38 |
hCV2977316 |
AGCCTATGTTTGCCCTGGGCGTGGGGGCTGCTGATTGATT[T/C]AGCCTGGCATGGAGCTCTTCCAGCTTTCCAGACTTGCCGC |
T |
T |
C___2977313_10 |
|
|
aldehyde
dehydrogenase 3 family, memberA1 |
ALDH3A1 |
|
17 |
19815339 |
0.31 |
0.27 |
0.4 |
0.38 |
hCV2977313 |
TGGGGTGCCTCCTGAGAGGGGAGAAGACCGAGCCTGTGCC[G/A]GCCTCTCCCCTTTTCTGGTGGCAGCAGCTGATTATCTTTG |
G |
G |
C___2977303_10 |
|
|
|
|
|
17 |
19825776 |
0.43 |
0.43 |
0.38 |
0.49 |
hCV2977303 |
AGCGCCAGAGCCCTCGGCTTCTGATCTCATCTGCACCGAC[C/T]TTTTCTTCCATGCGCCTTCAGCTCACACTGCCAAGGTCCC |
T |
T |
C___2275827_10 |
rs205094 |
|
unc-51-like
kinase 2 (C. elegans) |
ULK2 |
Intron |
17 |
19845593 |
|
|
0.29 |
0.19 |
hCV2275827 |
CCTAATGCCAGCAATGTTTAATAAGAGCTGTAATAAACTT[T/A]TAGCAAATGTGGTAAACGGATTTGTAATTACTTAAAATAC |
A |
A |
C___3109384_10 |
rs203466 |
|
A
kinase (PRKA) anchor protein 10 |
AKAP10 |
Intron |
17 |
19971982 |
0.34 |
0.43 |
0.16 |
0.13 |
hCV3109384 |
TGCAGACATTCACTGACTCCCTCCTGTAGTCACAGCACTG[G/C]GGACAAATATCACGGAAGACAAGGTCCCCGGTATTGTGGC |
G |
G |
C____926531_10 |
rs203457 |
|
A
kinase (PRKA) anchor protein 10 |
AKAP10 |
Intron |
17 |
19980367 |
0.31 |
0.44 |
0.15 |
0.14 |
hCV926531 |
AGCCACAGGGGAAGAGATGAGGTGGATGATTAAGCAATAA[C/A]GTATGCATAGGGCAAGAAAGTTCAAAAAGCAGAGGAAAAG |
A |
A |
C___3109371_10 |
rs203481 |
|
A
kinase (PRKA) anchor protein 10 |
AKAP10 |
Intron |
17 |
19990757 |
0.34 |
0.43 |
0.16 |
0.13 |
hCV3109371 |
GACAAAAAGAAGCTAAGGAAACCTTTCTAAAATGACTAGC[T/C]AGCTGAGTACAGCAAGTTCTCCTCCAGCATTCTACCTCCT |
T |
T |
C___3109365_10 |
|
|
A
kinase (PRKA) anchor protein 10 |
AKAP10 |
Intron |
17 |
19999159 |
|
|
0.14 |
0.13 |
hCV3109365 |
GTTTAATTAAGTTTTTTCACCTGGATACACATGACACATA[C/T]AAGCAACATAACCTCACTGGCTCTGAAATTCCTGGAAAAA |
T |
T |
C__15870673_10 |
rs2072336 |
|
A
kinase (PRKA) anchor protein 10 |
AKAP10 |
Silent
Mutation |
17 |
20005156 |
|
|
0.31 |
0.36 |
hCV15870673 |
CAGCAAGCTGAGACTGGAAGTTATCTGCTGCCAACCAGAA[C/T]TGTAAGATATTCACTGCATCCTCTTTTTCCATGTACTAGG |
C |
C |
C___3109395_10 |
rs1638526 |
|
A
kinase (PRKA) anchor protein 10 |
AKAP10 |
Intron |
17 |
20010479 |
|
|
0.13 |
0.07 |
hCV3109395 |
ATATAATGATAGACACTGGGATAGAGGTTTTCTCAAATTC[T/C]TTGATCACAAAATGTTATCAACTTGATCCTTCAGAAGACT |
C |
C |
C___3109396_10 |
rs1638525 |
|
A
kinase (PRKA) anchor protein 10 |
AKAP10 |
Intron |
17 |
20010623 |
0.34 |
0.43 |
0.16 |
0.13 |
hCV3109396 |
AGTGTGGTTTCATTTTAAGTGTTTTATTTGACTTGAAACT[G/C]CTTCCTTTTTATCCACACGCCAGTCAGGCTATTAACTGGT |
C |
C |
C___2594399_10 |
rs1860302 |
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
|
17 |
20076428 |
|
|
0.17 |
0.17 |
hCV2594399 |
TCAATAAGCTAGCATCTTATTTAGGGTTTTGGTATCTGAG[T/A]TTGGCATATAGTTTACCCCATTTTTATCTGTGTTCATAAC |
A |
A |
C___7562332_10 |
|
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
|
17 |
20109991 |
0 |
0.3 |
0.13 |
0.08 |
hCV7562332 |
CAGAACTTGGCCATTATGAGTAGCAACAAAGGAAGCCTAG[C/T]GTCAGGTCCTAGGGTTTGTTTTTATTTGAAGGAGCTGTAT |
C |
C |
C___3199960_10 |
|
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
|
17 |
20121722 |
|
|
0.17 |
0.15 |
hCV3199960 |
GCCTGCACTGAAGCCCAGCAAACCCCTCATCCTAGCTAAC[C/T]GCAGCAAGGACTGGCGTCCGGAGAAGGGCGAGGCCGCTTG |
T |
T |
C___2036889_10 |
|
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
|
17 |
20126804 |
0.47 |
0.43 |
0.17 |
0.14 |
hCV2036889 |
CCATGGGCCTCTACATGTCCTCCATCTGCAGGTTGTATGT[A/G]CATTGGGCTGTAGCCATTTGGTGGCAAGGACCATGGTAGA |
G |
G |
C___2036883_10 |
|
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
|
17 |
20129964 |
|
|
0.09 |
0.07 |
hCV2036883 |
AGACGTCTTCCATCCCTACGGGACCTCTCAAGGTCATGCT[A/G]CATGACCTTCGGCATATGAATTCACCTGGCACCACAGTAT |
G |
G |
C___2036869_10 |
|
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
|
17 |
20139867 |
0.31 |
0.19 |
0.09 |
0.06 |
hCV2036869 |
TTTTTATTTCCTTGTCCCACTGACTCTAATTTCCTATAGG[A/T]ATAAAATGTTTAGCTCAGCGGTGCAGAAGGTCCACACTAA |
A |
A |
C___2036857_10 |
|
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
|
17 |
20151247 |
0.48 |
0.49 |
0.16 |
0.15 |
hCV2036857 |
GGTACCCACGGCGGGATGCAGATGTGAGTTAGGGCCATGC[A/G]GCGATGATCCAGGTTTTGTTCCTGCATCCTCTGCAACTAG |
A |
A |
C___2036811_10 |
|
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
Intron |
17 |
20189747 |
0.42 |
0.37 |
0.18 |
0.18 |
hCV2036811 |
TGGAAGTGAGGGGACATTCAGAGAGCTCAGCCTATGGGAA[A/G]TGTTGATTTCACTGTGAGTTCTGAAGGGCCCTGAAGAAGT |
G |
G |
C___2036800_10 |
|
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
Intron |
17 |
20200302 |
0.42 |
0.36 |
0.18 |
0.18 |
hCV2036800 |
TGGTTCTGTGTAATCATCACATTGGATGGAAGGGAAGCTG[A/G]AGGTCTTTCCACTGAATTCATGGAATATTAAAGTTCCAGT |
G |
G |
C___2036789_10 |
|
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
Intron |
17 |
20226219 |
0.42 |
0.37 |
0.18 |
0.17 |
hCV2036789 |
TTAAGCACATTTTCCCTGCTATATATTCTCCTCACTCCCC[A/G]TTTCTGCAAGTCATACTTAAATTTTCCAAATCCATTGTTA |
A |
A |
C___2564028_10 |
rs1859407 |
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
Intron |
17 |
20240166 |
0.43 |
0.35 |
0.18 |
0.21 |
hCV2564028 |
GCCTGGCTGACTCAGGAGGTCAGCGCCTAGACCTGACTCA[C/T]TTTCTTCCGCTCCTTGCCGACCTCACCAGGGCCTGCTTCC |
T |
T |
C___2563961_10 |
rs2703776 |
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
Intron |
17 |
20299738 |
|
|
0.18 |
0.18 |
hCV2563961 |
CAGACAAGTGCCGGAGATGCTGGTTTCTTGTCTGATTTTG[A/C]ACTTCTCTGGCAAGCTGCCCCTTGTAAAGAGTTGACTATA |
C |
C |
C___2563948_10 |
rs2703788 |
|
sperm
antigen HCMOGT-1 |
HCMOGT-1 |
|
17 |
20321715 |
|
|
0.17 |
0.18 |
hCV2563948 |
ATTACAGTGACAATTACTTGCTTCTAGCAATCCCCAGGAA[T/C]TGCTTGTCAACACTGAGGTCATTGGAAGCTGCAGAAACCA |
T |
T |
C___1898365_10 |
|
|
|
|
|
17 |
20684473 |
0.28 |
0.2 |
0.48 |
0.44 |
hCV1898365 |
TTTTTAATGTTTATGCTTCTTGTTGTACTCCCTTCTCTAA[T/G]TTAATGTGCCTGATAACTTTTGAAAGTAAGAATAGAGACA |
C |
C |
C___1889655_10 |
|
|
|
|
|
17 |
21056986 |
0.12 |
0.27 |
0.43 |
0.39 |
hCV1889655 |
AGCTCTGCCGGGCTGGGAGTTGAGGGATGGAGTCACACTG[C/T]TTTTGCTCCAGGAACTGCTCAAGATGTCACTTATTTTAGG |
C |
C |
C___1889636_1_ |
rs1044420 |
IMS-JST043257 |
|
|
|
17 |
21065805 |
0.16 |
0.39 |
0.44 |
0.39 |
hCV1889636 |
CCACAGTGGAATAAGGGGGACTAACTTGGATACGAAAGTT[C/T]AGAATAATGCCCACCAAAAATCCATGTGACTCCATCTCTC |
C |
C |
C___1889631_1_ |
|
|
|
|
|
17 |
21067113 |
0.13 |
0.28 |
0.4 |
0.4 |
hCV1889631 |
ACTGTATTTCAGTACTTTTCCTCCCCCTTGTCCCTAGTTT[A/C]TAATTTCTCAGTGGACAAATGGACAAACCATCTCTGTTTG |
A |
A |
C__11622902_1_ |
rs2291035 |
IMS-JST043259 |
|
|
|
17 |
21076664 |
0.24 |
0.3 |
0.12 |
0.13 |
hCV11622902 |
GAAGGGGTCGATGGTGGTGGAGACTCCACTGGAAGCAGAG[A/G]GAAAACAATGGCTGTGAGGACTGACACCCACCCAGCTCCA |
A |
A |
C____923793_1_ |
rs719093 |
IMS-JST043260 |
|
|
|
17 |
21078391 |
0.27 |
0.03 |
0.3 |
0.23 |
hCV923793 |
CCTGCAGAAGCCTGGGGGAGCCAGGGCCAACGCTTTAAAA[G/A]GCCATGTGAGGACACTCCTCATTTTAGCAGAGGGTGTCCT |
A |
A |
C___1889583_1_ |
rs2291036 |
IMS-JST043263 |
|
|
|
17 |
21084731 |
0.13 |
0.28 |
0.4 |
0.39 |
hCV1889583 |
ACACACAACACTTAAAGGAGCTTCTCACAGAGGGTATGAG[G/C]ATGTGAGCTACGTTTCCTGCAAGAAAAGCAGCACCTCCAG |
C |
C |
C___1889576_10 |
rs1038109 |
|
|
|
|
17 |
21085320 |
0.09 |
0.29 |
0.4 |
0.4 |
hCV1889576 |
GAAAAGAACAGCGAACACAAGTCAGAGATTGCTCTCCAGA[A/G]AAGACTTGTTAAACACAAATAATTCTGCTCACTGAAAGAG |
A |
A |
C___1889573_1_ |
rs2291037 |
IMS-JST043264 |
|
|
|
17 |
21086552 |
0.13 |
0.38 |
0.4 |
0.39 |
hCV1889573 |
CATAGATGTAGTCCTGGCACAGAAAACAGTAGATGCCTCC[A/G]TACATCAGATCAATGGCTGAGGAGAGAAAGGAGGGAGGAG |
A |
A |
C___7444609_10 |
rs1478791 |
|
DKFZP566O084
protein |
DKFZp566O084 |
|
17 |
21185035 |
|
|
0.4 |
0.2 |
hCV7444609 |
TTCTTAAAAATGCATTGTTTTTCTTCTCTTATCGCTTCTC[A/G]GTTGTTCTAATAATTTGATAGCTTCAGTACACCATTAATG |
A |
A |
C___1889689_10 |
|
|
DKFZP566O084
protein |
DKFZp566O084 |
Intron |
17 |
21209102 |
0.38 |
0.41 |
0.36 |
0.2 |
hCV1889689 |
CCCTTCTGAGGATCCAATCTGGCAGCTTGCACAAAAGAGT[T/G]GTAGTTATTGCTGACTGCTGACTCTTCGGGGTAGCAATTG |
G |
G |
C___1889670_10 |
rs899331 |
|
DKFZP566O084
protein |
DKFZp566O084 |
Intron |
17 |
21232553 |
0.08 |
0.18 |
0.28 |
0.4 |
hCV1889670 |
TTGAGGTTCCAGAAGCCCTTTAAAGGGTGGATGAGCTGCA[C/T]AAATGGATGTGAGGGAGTTACACAGTGGTGGGTTCAGCAG |
C |
C |
C__11614664_10 |
|
|
DKFZP566O084
protein |
DKFZp566O084 |
Intron |
17 |
21234260 |
0.33 |
0.37 |
0.22 |
0.26 |
hCV11614664 |
GAAGTGTACAAGACGGTGTGTAGTTTTCGCTCTTTTCTTC[G/A]TGTCATGGATTGCTGGCTTGAGTTTTAATTAGGTTGCATG |
A |
A |
C___7444600_10 |
rs899333 |
|
DKFZP566O084
protein |
DKFZp566O084 |
Intron |
17 |
21234392 |
0.4 |
0.18 |
0.28 |
0.4 |
hCV7444600 |
GGGCTGGTTTATTTTCATCCTGCTCCTCCCTGGGTGTGAA[G/A]ACGGGGTTGAGGGACATTTTAGTACCTGTCTGCTCTCTCC |
A |
A |
C__15967199_10 |
rs2279163 |
|
DKFZP566O084
protein |
DKFZp566O084 |
Intron |
17 |
21243849 |
|
|
0.28 |
0.39 |
hCV15967199 |
|
#N/A |
#N/A |
C__25754698_10 |
rs3744226 |
|
DKFZP566O084
protein |
DKFZp566O084 |
Intron |
17 |
21249700 |
|
|
0.37 |
0.22 |
hCV25754698 |
GGTGCAATGACTGGAAGTAGGGCGCTTGCCTAAGCCTCTG[C/T]ATCTGTCCTCAGCACTCCTGCCCTCCATGATCAAGAGGAG |
T |
T |
C___7444592_1_ |
rs1017802 |
|
DKFZP566O084
protein|chromosome 17 open reading frame 35 |
DKFZp566O084|C17orf35 |
Intron |
17 |
21254517 |
0.08 |
0.13 |
0.28 |
0.4 |
hCV7444592 |
AAGCTGAAATGCCAACAGACTTCCAACTAACCCATTCGCA[G/C]ATCCCGAGTCCAAGGAGTATTATCGGCATCGGGATTGAGT |
G |
G |
C___7444583_10 |
|
|
DKFZP566O084
protein|chromosome 17 open reading frame 35 |
DKFZp566O084|C17orf35 |
Intron |
17 |
21266775 |
0.41 |
0.48 |
0.36 |
0.39 |
hCV7444583 |
GTGGGACAAGAGCCTCCTAAACATGGGTTGCTGCCAAGCC[A/G]CCTGTGACTGTGCCAGTGTCACGGCTGCCTCGCCAGGGAT |
G |
G |
C___1673216_10 |
|
|
chromosome
17 open reading frame 35 |
C17orf35 |
Intron |
17 |
21278192 |
0.32 |
0.29 |
0.37 |
0.23 |
hCV1673216 |
TGTTTGCTAGTTTTTAAGAGCATCTGAAAACCATTGAGGT[A/G]ACTTATTTAAATGGTCCAATCTAATACCAGGCGGGAGTTA |
G |
G |
C___1673225_10 |
|
|
transcript
expressed during hematopoiesis 2 |
MGC33894 |
|
17 |
21300363 |
0.27 |
0.36 |
0.28 |
0.41 |
hCV1673225 |
GGAGCTACAGGCTTACTTCTCCCAGTCTTCCCTTCAAGCT[G/A]TTGTAGGCTACAGGTCTAACAAACATTTCACCTCTGCATG |
A |
A |
C__11612243_10 |
|
|
transcript
expressed during hematopoiesis 2 |
MGC33894 |
|
17 |
21319346 |
0.21 |
0.01 |
0.17 |
0.12 |
hCV11612243 |
GAGGTGGCATTTCACTCCTATCCCAAACAAGGCTTCACAG[G/A]ACAATTCCTTCCCAGTAGCCAGTAGCCACCCAGGCTGCCC |
T |
T |
C____250138_10 |
rs4247121 |
|
|
|
|
17 |
21454731 |
0.24 |
0.06 |
0.3 |
0.28 |
hCV250138 |
GGAGAGACCCTGCTCTCAGGGTGAGGCCTGCCCCTTCACC[C/T]GTTCCCTAGAGGTGAAATGGCCTCTCTCCATGTGTACCAC |
T |
T |
C_____64845_10 |
rs1521563 |
|
|
|
|
17 |
25521485 |
0.26 |
0.2 |
0.34 |
0.41 |
hCV64845 |
CACCGAACCTGGCCAGAATTGTTTTTTCTTTACACAGGTG[C/A]ATAATATTCCATGTTTGTGTGTACAATTTTGCTTCTCCAT |
T |
G |
C____460558_10 |
|
|
|
|
|
17 |
25741364 |
0.43 |
0.16 |
0.24 |
0.2 |
hCV460558 |
TGCTGCTGGCGTGGGGAACCGCACCTCCATTTTTTGTCGT[G/A]TGTTGATCCACCTGGGCATGAAAACAATGAGGCTTGCGCC |
T |
T |
C____316824_10 |
|
|
|
|
|
17 |
25751588 |
0.35 |
0.25 |
0.23 |
0.19 |
hCV316824 |
ACTATGTTGCCAAGATGTTCTTTTTGTAGAAAATGACTGT[T/G]AAAGAAGGAAGAGCTCATTCTCTTATCCTTTTAAATCTCA |
A |
A |
C___1479148_10 |
|
|
|
|
|
17 |
25753285 |
0.37 |
0.31 |
0.24 |
0.21 |
hCV1479148 |
CAGATAGCATGAATCTGGGCCACCTGACCATCACCCTTCA[C/G]TAGGACATGGATGTCCACGTCAGCAAATCGCTCCTTGCCC |
G |
G |
C___7442066_10 |
|
|
WD
repeat and SOCS box-containing 1 |
WSB1 |
Intron|Mis-sense
Mutation |
17 |
25774384 |
0.38 |
0.4 |
0.24 |
0.22 |
hCV7442066 |
AAAAGGAGCTGCAGGAGCTAAAAGTTCACCTATAGTACGT[G/A]ATCTCACTAAAAGGAAAAATAAAAATACTGGATATCATAT |
C |
C |
C____364676_10 |
|
|
WD
repeat and SOCS box-containing 1 |
WSB1 |
Intron |
17 |
25775454 |
0.37 |
0.41 |
0.24 |
0.21 |
hCV364676 |
ATGAGAACATTAGTGACTATAACCATGAAGGTCTGCTAGA[T/C]ACAAAAAAAACAGGGAAAGATCCAATATAGCACATGATAC |
A |
A |
C___1875936_10 |
rs1382048 |
|
|
|
|
17 |
25881682 |
0.48 |
0.45 |
0.36 |
0.23 |
hCV1875936 |
ACACAGGCAGATGATGTGGGAGAAGGAGTGACTCAGAAGT[G/T]GCGAGGACCATCAGGAGCTCTCTAAGGACAGCAGGGAGTC |
T |
T |
C___1875935_10 |
rs1382047 |
|
|
|
|
17 |
25881879 |
0.49 |
0.42 |
0.36 |
0.21 |
hCV1875935 |
GGGTCCCCTGCACCTTCCATGGAGGCGCTCTGCCAATGAC[A/G]AATAATTTGGGAAACTCTCAGAGAACTCTTGCTCTCTCTC |
A |
A |
C__11630345_10 |
|
|
|
|
|
17 |
25903965 |
0.47 |
0.31 |
0.36 |
0.22 |
hCV11630345 |
AGCACCCGAGATCCCAAACAAGCTTCCCATCCTCGTTTTA[C/T]TTTTTGTTAAACTTATGAAAATTTATTAAGATATGACTTA |
C |
C |
C____432917_10 |
|
|
|
|
|
17 |
25946574 |
0.28 |
0.47 |
0.4 |
0.2 |
hCV432917 |
GTTAAAAAAAGAAAAAGAGAAACCAAAAGCCAAAGACCTC[A/G]TTTACTCACAATACCTGTGTACAGCCAGCCATGTGGGCTG |
A |
A |
C__11625081_10 |
|
|
|
|
|
17 |
25979005 |
0.13 |
0.02 |
0.07 |
0.01 |
hCV11625081 |
TAGGTAAACATTCTAGCTCGATGTGGTTGTTTAACAAAGC[A/G]TAGTTTTTATTATTAGTTGTAGATGTTCACTGTAGAGTTT |
A |
A |
C___8716765_10 |
rs878028 |
|
|
|
|
17 |
25994881 |
0.34 |
0.41 |
0.42 |
0.2 |
hCV8716765 |
GAGTCAGGAAAAACAGGACTGAGAAGGGGCTATGAACTTG[G/A]TCCTAGGAATACTGGCTTACCTGAAACTAAACAACCACGC |
G |
G |
C___9457279_10 |
rs940010 |
|
|
|
|
17 |
26005243 |
0.36 |
0.43 |
0.41 |
0.19 |
hCV9457279 |
TTGTCAGCGGGTGGGACGGGGTAGGATGTGGCTTACAGGC[T/A]GCTGTGGAGGAGAGGACTGTGCTAGGAAAGAGGTTGGAGC |
T |
T |
C___9242338_10 |
rs2945395 |
|
|
|
|
17 |
26030533 |
0.26 |
0.21 |
0.32 |
0.31 |
hCV9242338 |
TGTGTGCAGCAGTTGGAGCTCTGCCGCACGGATCATGGGG[T/C]GATGTTTTTACTCCTGTATTCTGTGCCCCCGAGTCAGGCT |
T |
T |
C___1718314_10 |
rs2945400 |
|
|
|
|
17 |
26038791 |
|
|
0.33 |
0.32 |
hCV1718314 |
GGAGGGAGGTGGCAAGGCAGGGAAAACCTCTTGGTGGCCT[C/T]GCATCCTGGACATCCTGGGTGCCTGGTCCCCAGCCCCTGC |
T |
T |
C__11620401_10 |
rs2948514 |
|
|
|
|
17 |
26052616 |
|
|
0.46 |
0.33 |
hCV11620401 |
GAGGCAGATATCACTAACCCACAGATGTTTCTGTGTGACT[C/G]TAGTGTCATTCTCAAGCAGCCACTGCCAATCAGCTGGTGT |
G |
G |
C__16173116_10 |
rs2241904 |
IMS-JST013921 |
|
|
|
17 |
26076289 |
0.16 |
0.18 |
0.17 |
0.33 |
hCV16173116 |
CTTGCAAAATTTATGGAAGGGCCCAGGCTGGTCCTTGTGG[A/G]AGTGTCTGGGGAACATGTGGCAGTCCACTCAGGGGAAAAT |
A |
A |
C___9248325_10 |
|
|
lectin,
galactoside-binding, soluble, 9 (galectin 9) |
LGALS9 |
|
17 |
26097493 |
0.27 |
0.08 |
0.2 |
0.33 |
hCV9248325 |
TGGTCAAAATGCCACAGAAAATGAGCTGCTCTGCCAGCAA[G/A]CTGTGGAGCTGCCTCCTCTCCAGGCCTGGCATCCCTTGGT |
A |
A |
C__25636564_10 |
|
|
nitric
oxide synthase 2A (inducible, hepatocytes) |
NOS2A |
|
17 |
26221064 |
0.46 |
0.27 |
0.4 |
0.49 |
hCV25636564 |
GATTCAGATAAAGGTGTATAAGATGACTAGGCAGCCATGA[G/A]TAACACCTTACAAGGAAATGATTGTGTTATCTGTATAGTA |
C |
T |
C__11889257_10 |
|
|
nitric
oxide synthase 2A (inducible, hepatocytes) |
NOS2A |
Mis-sense
Mutation |
17 |
26242161 |
0.18 |
0.1 |
0.17 |
0.1 |
hCV11889257 |
GAACTCTGTCATTCCCTCTCTTTCTAGAAACTGAAGAAAT[C/T]GCTCTTCATGCTGAAAGAGCTCAACAACAAATTCAGGTAA |
#N/A |
#N/A |
C___1748185_1_ |
rs1137933 |
|
nitric
oxide synthase 2A (inducible, hepatocytes) |
NOS2A |
Silent
Mutation |
17 |
26251496 |
0.22 |
0.2 |
0.21 |
0.1 |
hCV1748185 |
GGTACATGGGCACAGAGATCGGAGTCCGGGACTTCTGTGA[C/T]GTCCAGCGCTACAACATCCTGGAGGTAACCCAGCCAGCCC |
A |
A |
C___2593674_10 |
rs3794764 |
|
nitric
oxide synthase 2A (inducible, hepatocytes) |
NOS2A |
Intron |
17 |
26256992 |
|
|
0.14 |
0.3 |
hCV2593674 |
|
#N/A |
#N/A |
C___2593676_1_ |
rs2072324 |
IMS-JST008282 |
nitric
oxide synthase 2A (inducible, hepatocytes) |
NOS2A |
Intron |
17 |
26262460 |
0.18 |
0.09 |
0.16 |
0.26 |
hCV2593676 |
CAGCTCTGCTCATGCCCTTTTGGCTCTGCGGGAGGAAGAA[G/T]ATAAGAGGAAGAGGGAAGATGGGGATGGGGAGGCAGTTGG |
A |
A |
C___2593704_10 |
|
|
nitric
oxide synthase 2A (inducible, hepatocytes) |
NOS2A |
|
17 |
26280538 |
0.31 |
0.31 |
0.2 |
0.34 |
hCV2593704 |
|
C |
C |
C___2593752_10 |
|
|
|
|
|
17 |
26343333 |
0.42 |
0.46 |
0.26 |
0.25 |
hCV2593752 |
AGTTTGGGCTTGCAGACTGACCACTGCCCCTTGTGCATTA[G/T]TTCATTGATTAGGAAGAACCAACTCATTTTGACATCTTCC |
C |
C |
C___2593757_1_ |
rs3751972 |
|
|
|
|
17 |
26351978 |
0.23 |
0.1 |
0.39 |
0.49 |
hCV2593757 |
CCCTCTTCTGGAGCTCAGCAGCAGCAGCTGGTTTGGAAGA[G/T]CCATTGGCCTTGTTGGCTGAAAGCCAGAAATCAGGGGAGA |
A |
A |
C___2593767_10 |
rs1034895 |
|
|
|
|
17 |
26371122 |
|
|
0.41 |
0.49 |
hCV2593767 |
TCTGATGATGTCTATCTTTCAGTGAGGTCCTCTGCTGAGA[C/G]TGAGGGTGGAGGTGGGGTGTAGGAGTTCTGAGAAACAGAG |
C |
C |
C___2593781_10 |
rs1157502 |
|
|
|
|
17 |
26395673 |
0.23 |
0.23 |
0.41 |
0.45 |
hCV2593781 |
TCTCATTCTACATTAAAGGCCTCACATTAGTGGCCTACAC[A/C]AGACCTGTTTTGCTTGGCCCCCATAGTGTTTAAATAACGT |
T |
G |
C___2960562_10 |
|
|
|
|
|
17 |
26414489 |
0.22 |
0.22 |
0.47 |
0.43 |
hCV2960562 |
GACCTTGGTTTCCCATGCGACTTTCAGCGTTGCTTACTTT[C/G]TGGTCTCTAGCTTCCAGGAATACCATCCTTCCCTCTCCAG |
G |
C |
C__11613170_10 |
|
|
|
|
|
17 |
26436208 |
0.06 |
0.28 |
0.14 |
0.22 |
hCV11613170 |
CAGAATGGCAACTCCCAGCTGGCAGAGAAGGCCACCCTAT[C/T]TGCAGGAGCCCAGCAACAGGGGGTCTTGGACTCAGCCAAC |
A |
A |
C____151267_10 |
|
|
|
|
|
17 |
26440901 |
0.2 |
0.19 |
0.46 |
0.49 |
hCV151267 |
AATCAAGTCAAGCGAGGTCAGCTTTGGGCTGGGTTGGCAG[T/C]TGGCTGCAGGCTCCAGGGGTTAGATGGGCCCCTGCCAGTA |
A |
G |
C____401782_10 |
|
|
|
|
|
17 |
26490063 |
0.07 |
0.03 |
0.34 |
0.33 |
hCV401782 |
GATTTTTTTTGAAATGAATACCTTAAATTTACTCATTTGC[C/T]CAGTTGCAAGATTCTCCAAGGCTTTATTTATGCTGGCGTA |
A |
A |
C___1694306_10 |
|
|
nemo
like kinase |
NLK |
Intron |
17 |
26532215 |
|
|
0.2 |
0.19 |
hCV1694306 |
AAAAAAGTTCAATTCTAAGCTCTTTATTCTGTTTTATAAA[T/C]GTATGAATAAATGGCAATTTAGTGTATACTAGAGATCCTT |
T |
T |
C__11417913_10 |
rs1870547 |
|
nemo
like kinase |
NLK |
Intron |
17 |
26589434 |
0.06 |
0 |
0.09 |
0.14 |
hCV11417913 |
TCAGGAAGTCACCAGTGGAATTAAAAATAAGTGCATTTTT[G/A]TGTGACATATTTTCAGTTTTACTTGCGCTTTGTGACCTCT |
A |
A |
C___8716938_10 |
rs1380565 |
|
nemo
like kinase |
NLK |
Intron |
17 |
26599971 |
0.35 |
0.32 |
0.43 |
0.32 |
hCV8716938 |
ACACCCCTTTGGGTTCATAAGTAGGTTACAGAATCATACA[A/G]TATGGGAAAAACAGATATGGCCTATCTTTTAATACAGACA |
G |
G |
C___1694320_10 |
|
|
nemo
like kinase |
NLK |
Intron |
17 |
26608453 |
|
|
0.03 |
0.09 |
hCV1694320 |
ATTTTGGTACTTGGTTTGAAAACTGTGTATGTGCTTCTGT[A/G]AGATAAGAGTTCTCAGTCACTTATTATTATTGGCCATAAT |
G |
G |
C___1694321_10 |
|
|
nemo
like kinase |
NLK |
Intron |
17 |
26623720 |
0.07 |
0.02 |
0.37 |
0.3 |
hCV1694321 |
TGTTCAAGTTAATGGCACCTCTGAGTCCCTGTCAAGAGAG[C/T]TTTATTTAATGTGCAACAGACCTGGAGTGATGCAGGTGTC |
T |
T |
C__11889097_10 |
rs2125846 |
|
nemo
like kinase |
NLK |
Intron |
17 |
26643612 |
|
|
0.44 |
0.32 |
hCV11889097 |
GTATTTTCTCTGTATCTTTGAGATTTAATTACCCTGGTAC[C/T]AGCAGACATCATAAAAGTGTTTCTCATGTATGGATCTGAC |
C |
C |
C___3074570_10 |
rs2611757 |
|
nemo
like kinase |
NLK |
Intron |
17 |
26664285 |
0.43 |
0.45 |
0.38 |
0.35 |
hCV3074570 |
TGGGAGTAATGACATCCAAAATTCTGAGTGATTTTAGTGT[T/C]TACTGTAGGACATTTTACAAGAGAGAGAGTAGTCCCCAAA |
C |
C |
C___2536642_10 |
|
|
pancreatic
polypeptide 2 |
PPY2 |
|
17 |
26730251 |
|
|
0.37 |
0.35 |
hCV2536642 |
GCCTACCTTCCTGCTAACTGGAGTTTCCGAAATTTCTCTC[G/A]TTTTGCAATATGCTTTACTCTCCAACTAAGCAGAGTCTCC |
A |
A |
C___2536632_10 |
|
|
hypothetical
protein FLJ40504 |
FLJ40504 |
|
17 |
26746697 |
0.17 |
0.14 |
0.4 |
0.36 |
hCV2536632 |
GAAATGGTCTGGTTAAGACTAAAAGACGGGGACAATGGGT[G/T]CTGAGAAATCAAATGTGGAAACCAACACACTTTCGGACAC |
G |
G |
C___2536622_10 |
rs614877 |
|
hypothetical
protein FLJ40504 |
FLJ40504 |
Intron |
17 |
26758560 |
|
|
0.03 |
0.08 |
hCV2536622 |
CTTTGGTAATACCTATTCCTCTCTCCTCAGGACTTCTTTC[T/C]GAAGTCATCCCTAGTCACTCTTCTTTTGAACCCTTATAGC |
T |
T |
C___7442530_10 |
|
|
intraflagellar
transport protein IFT20|hypothetical protein MAC30|tumor necrosis factor,
alpha-induced protein 1 (endothelial)|polymerase (DNA-directed), delta
interacting protein 2|DKFZP586F1524 protein |
LOC90410|MAC30|TNFAIP1|POLDIP2|DKFZP586F1524 |
Intron |
17 |
26811212 |
0.43 |
0.19 |
0.03 |
0.07 |
hCV7442530 |
GCCAGACTCTCGGTGGTGCTCAAAATAAACACTGGCACAG[G/A]CTGCTCTGGAGGCTGGAATCTTTAGAAAGGAAGTGCATCC |
A |
A |
C____330897_1_ |
rs2073867 |
IMS-JST000494 |
hypothetical
protein MGC45714|tumor necrosis factor, alpha-induced protein 1
(endothelial)|polymerase (DNA-directed), delta interacting protein
2|DKFZP586F1524 protein |
MGC45714|TNFAIP1|POLDIP2|DKFZP586F1524 |
Intron |
17 |
26824524 |
0.46 |
0.49 |
0.33 |
0.27 |
hCV330897 |
CTAGAAAACCCTCCCTAGTGGTGGCCCAGGCAAACAAGGT[C/G]CTCATACATGAAGCAAAAGTTCAGGCTGGAAGAAGGCACA |
G |
G |
C___9247572_10 |
|
|
solute
carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 |
SLC13A2 |
|
17 |
26937637 |
0.49 |
0.47 |
0.13 |
0.11 |
hCV9247572 |
CACCCAGCATCTCAATGGGCCTTTCCTCTTAGCGGGGCAC[G/A]GGTGCCAGCACCCTCAGCAACCTTTTGGTATTGCCAAGGA |
G |
G |
C__15870649_10 |
rs2072335 |
|
solute
carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 |
SLC13A2 |
Intron |
17 |
26967636 |
0.16 |
0.06 |
0.2 |
0.26 |
hCV15870649 |
|
#N/A |
#N/A |
C__15870648_10 |
rs2072334 |
|
solute
carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 |
SLC13A2 |
Intron |
17 |
26968088 |
0.15 |
0.05 |
0.19 |
0.25 |
hCV15870648 |
CAGCTGTTCTTCAAGAGCAGGAAAGGGCACCCCTTGGTCT[C/T]AGCTGGGTCCTATCATCCCTTTAGAGCTGTCTTTGACTCT |
#N/A |
#N/A |
C___2998745_10 |
|
|
phosphatidylinositol
glycan, class S|unc-119 homolog (C. elegans)|stromal cell-derived factor 2 |
PIGS|UNC119|SDF2 |
Intron |
17 |
27034289 |
0.1 |
0.08 |
0.1 |
0.2 |
hCV2998745 |
AGAAAAGAAAGCCAAAAAGCACCCTGGCTCCTACTGTTCC[A/G]AATCTGCCCCTTTGCCAATGACCAACAGGTTTGCACCTCT |
A |
A |
C__11620375_1_ |
rs2302205 |
|
KIAA0100
gene product|hypothetical protein FLJ25006|suppressor of Ty 6 homolog (S.
cerevisiae)|phosphatidylinositol glycan, class S|stromal cell-derived factor
2 |
KIAA0100|FLJ25006|SUPT6H|PIGS|SDF2 |
|
17 |
27092610 |
|
|
0.11 |
0.2 |
hCV11620375 |
TGACCCGTTGCTTCTTCTCACTATGTTCCTAAAGGAATGG[A/C]AAGGGAAATGAATATGATTTTTAAGTAGACAAGTCTTGTA |
C |
C |
C__11620373_10 |
|
|
KIAA0100
gene product|suppressor of Ty 6 homolog (S. cerevisiae)|phosphatidylinositol
glycan, class S|stromal cell-derived factor 2 |
KIAA0100|SUPT6H|PIGS|SDF2 |
|
17 |
27100894 |
0.06 |
0.08 |
0.1 |
0.2 |
hCV11620373 |
TGACCCCTTATCAGGTTGTCCACTGAAGCTGGGAGTGTTA[C/A]CACGAGGTGGGGCTGAGGCACTAGTTGGGACACCCCGCTT |
C |
C |
C__15757312_10 |
rs2302203 |
IMS-JST058502 |
KIAA0100
gene product|stromal cell-derived factor 2|suppressor of Ty 6 homolog (S.
cerevisiae)|phosphatidylinositol glycan, class S |
KIAA0100|SDF2|SUPT6H|PIGS |
|
17 |
27112097 |
0.07 |
0.08 |
0.1 |
0.16 |
hCV15757312 |
CCAGAACTGTGGGTTTGGGTTTTATTTCACAAACTCAAAA[C/T]GAAATAATGTAGCGGGAGAATAGAGAAAGGAACAATTCTT |
T |
T |
C___1315765_10 |
|
|
suppressor
of Ty 6 homolog (S. cerevisiae) |
SUPT6H |
UTR
5 |
17 |
27145955 |
0.2 |
0.32 |
0.16 |
0.17 |
hCV1315765 |
TGTCCGTTTTTTTATCCTTCACTCTTTTCTTTCCCTAGTT[A/G]TCTTCAGGCAGAGTGAGAAGCTGCAGCAATGTCTGATTTT |
A |
A |
C__25471595_10 |
|
|
suppressor
of Ty 6 homolog (S. cerevisiae) |
SUPT6H |
Silent
Mutation |
17 |
27159960 |
0.07 |
0.06 |
0.11 |
0.18 |
hCV25471595 |
TGTACTGTGAATTTATCAACCGAGTCAATGAGGTCGGGGT[T/C]GATGTCAACCGTGCCATTGCCCACCCTTACAGCCAGGCCT |
T |
T |
C__15879243_10 |
rs2288595 |
IMS-JST039894 |
NIMA
(never in mitosis gene a)- related kinase 8|RAB34, member RAS oncogene
family|hypothetical protein BC014072|ribosomal protein L23a |
NEK8|RAB34|LOC116238|RPL23A |
Silent
Mutation |
17 |
27197922 |
0.07 |
0.08 |
0.11 |
0.2 |
hCV15879243 |
TCATCCACGATACGGTGGACATCGTGGCTAGCGGACAGAC[A/G]CGAGCCTCTTGGGAATACCTTGTCCATCACGTCATGGTAA |
T |
T |
C__25758409_10 |
|
|
NIMA
(never in mitosis gene a)- related kinase 8|RAB34, member RAS oncogene
family|hypothetical protein BC014072|ribosomal protein L23a |
NEK8|RAB34|LOC116238|RPL23A |
|
17 |
27199132 |
|
|
0.29 |
0.41 |
hCV25758409 |
CGGAGAGAGCTCTCGCGGTACCCGCCCAGGGCGGGGTAGC[C/T]GGTGGCCCGGGGAAAAGTGGGGACGCGGGTTAATGAGGCC |
G |
G |
C__11613189_10 |
|
|
NIMA
(never in mitosis gene a)- related kinase 8|RAB34, member RAS oncogene
family|hypothetical protein BC014072|ribosomal protein L23a |
NEK8|RAB34|LOC116238|RPL23A |
|
17 |
27201004 |
|
|
0.11 |
0.2 |
hCV11613189 |
CCGGGAAGGGGTGGGAAGAGAAGATTGACCCCCTTCTTGC[C/T]CACGAGTGACGCTATTTCAGGAGAAAGCGGGTTCTCCTTG |
A |
A |
C___2835755_10 |
rs3181214 |
|
NIMA
(never in mitosis gene a)- related kinase 8|TNF receptor-associated factor
4|hypothetical protein FLJ10700 |
NEK8|TRAF4|FLJ10700 |
Intron|Silent
Mutation |
17 |
27220987 |
0.21 |
0.12 |
0.1 |
0.33 |
hCV2835755 |
CACAGTTCAGGGAAGGCCTCACCTGGATGGTGTCAAAGAC[G/A]AACTCCTTAGTGCAGTAGGTGCAGGGCTGAGTGCGCTTGG |
T |
T |
C___2835748_10 |
rs4794836 |
|
TNF
receptor-associated factor 4|hypothetical protein FLJ10700 |
TRAF4|FLJ10700 |
|
17 |
27228274 |
|
|
0.12 |
0.36 |
hCV2835748 |
GGCAGGGCTGCTGTGGGCTTACTGTGAAGTTTGAGGATAA[C/G]TGTGGTTTGCTGTCCCTCACTGGAGGCCCAAAAGGTCCTG |
G |
G |
C___2835744_1_ |
|
|
TNF
receptor-associated factor 4|hypothetical protein FLJ10700 |
TRAF4|FLJ10700 |
Silent
Mutation |
17 |
27231128 |
0.19 |
0.11 |
0.1 |
0.33 |
hCV2835744 |
TGCCCACTCCCAATAGCGACAGCTCGGGGTCTCAGGACCT[C/T]GCCATGCCGTTCCACGGTGGGCAGCCCACAGGTGCACCCC |
G |
G |
C___8716653_10 |
rs1060247 |
|
flotillin
2|hypothetical protein MGC23280 |
FLOT2|MGC23280 |
UTR
3 |
17 |
27353016 |
0.27 |
0.21 |
0.2 |
0.38 |
hCV8716653 |
ACAGGAGAGACAGGAAGACAGCCAGAGATGGCCTGAACAC[A/G]CAGCACTTCTGGTCCCTTCGAGATAAGGCACCAGAGTCAG |
G |
G |
C__11620335_10 |
rs1873477 |
|
pipecolic
acid oxidase|seizure related 6 homolog (mouse) |
PIPOX|SEZ6 |
Intron |
17 |
27457095 |
0.14 |
0.13 |
0.14 |
0.07 |
hCV11620335 |
GCACAGAGATTCTCTAATTCAGGAAGTGTCCAGGGCAGGC[G/A]CAGCTCTTCCCGCTGGCTGCCAGGTGGGTGCTGAGCAATG |
G |
G |
C____354199_10 |
|
|
pipecolic
acid oxidase|seizure related 6 homolog (mouse) |
PIPOX|SEZ6 |
Intron |
17 |
27461528 |
0.31 |
0.35 |
0.23 |
0.25 |
hCV354199 |
AACTACTGGGAAGAGTGAACCCTCCAGTCTGGAGCTGTCT[T/G]TTATCTGTGGGCATACCTCCAGGGACAGAGACCCCACTGC |
G |
G |
C__11620329_10 |
|
|
pipecolic
acid oxidase|seizure related 6 homolog (mouse) |
PIPOX|SEZ6 |
|
17 |
27485905 |
0.14 |
0.08 |
0.1 |
0.19 |
hCV11620329 |
AGAAGTGGAGGATTGAGGGTCATCCTGAGCATTGGCTGGA[C/T]CTCAGAGGCAGGCCTGAGTTCAAATCATCCCAACCTAATG |
T |
T |
C__11414608_10 |
|
|
pipecolic
acid oxidase |
PIPOX |
|
17 |
27496660 |
0.19 |
0.28 |
0.33 |
0.41 |
hCV11414608 |
CCTCACCAGGGACCTAAGCGCCACCTTCTGCAGTGGCACC[G/A]CAGAGCTAAAGGCACAGCTGAGATGGTTCCTCTTGGAGTT |
G |
G |
C___1733921_10 |
|
|
pipecolic
acid oxidase |
PIPOX |
|
17 |
27522854 |
0.09 |
0.03 |
0.05 |
0.06 |
hCV1733921 |
ATTAGAATATGCTGCTCTGGAATTTCCAGGTCAGGGATTT[T/C]ACATTACATCTGCTTAGGTGTGGTTTAAGCCAGGTCTGTC |
T |
T |
C__11413920_10 |
rs1873476 |
|
TGFB1-induced
anti-apoptotic factor 1 |
TIAF1 |
|
17 |
27551629 |
0.31 |
0.47 |
0.13 |
0.16 |
hCV11413920 |
GCCTTGTACTCCTAGGCTTGAGATCTATGCCAGAGAGGAA[A/G]GTAGCTTTGTGGGGGCAGGGTAGGGGAGGGAGAGCTAAGC |
G |
G |
C___1555502_10 |
|
|
TGFB1-induced
anti-apoptotic factor 1 |
TIAF1 |
|
17 |
27568339 |
0.23 |
0.05 |
0.06 |
0.07 |
hCV1555502 |
TAACACCTTCCCTGAATAGCTAATCAGGTTCCTGTGGAAG[C/T]TGAATGCTCCCCTTACCCCAACTCCACATCAAAAAAAGTA |
C |
C |
C___1191815_10 |
|
|
TGFB1-induced
anti-apoptotic factor 1 |
TIAF1 |
|
17 |
27588815 |
|
|
0.02 |
0.07 |
hCV1191815 |
CCCCGTGTGCCTGTGGGGGACTTATCTTGAGAGATCGCTC[A/G]TGCCTCCACATTCCCTGAGTACATTAGAACCCTCCCTCTT |
G |
G |
C___1191811_10 |
|
|
TGFB1-induced
anti-apoptotic factor 1 |
TIAF1 |
|
17 |
27610002 |
|
|
0.36 |
0.49 |
hCV1191811 |
CCCAGGGACATGGTACAAACAAGGGAGGTATAATCTCTAA[G/A]CCTGCTCACAATAAATACATAGTGAACTCAATGCCTGGGT |
A |
A |
C___1555459_10 |
|
|
TGFB1-induced
anti-apoptotic factor 1 |
TIAF1 |
|
17 |
27610124 |
0.47 |
0.33 |
0.33 |
0.37 |
hCV1555459 |
TCGTGAACAATAGCCACAAAATGCATCATCCTCTGGCCTA[G/C]CCATTCCATCTTCAGGAATGTATGTCCAGTGAGCTGACTT |
C |
C |
C___1555454_10 |
|
|
TGFB1-induced
anti-apoptotic factor 1 |
TIAF1 |
|
17 |
27617516 |
0.38 |
0.35 |
0.33 |
0.36 |
hCV1555454 |
TCACAAAGTATAGTACACATGATTTTGAGTATGCCATTTG[A/G]TATAATATAGCTGCAGGAAAGCATAATAGTCATGTACAGC |
G |
G |
C___2637942_10 |
|
|
TGFB1-induced
anti-apoptotic factor 1 |
TIAF1 |
|
17 |
27644703 |
0.37 |
0.18 |
0.1 |
0.1 |
hCV2637942 |
TCTATCAGCCACTTCCTAAAGGCAAGCAACATAAAGATAA[G/A]TAAGCCCAGTGTCAGAGCTCAGGCTTTGGATATCAAGTAA |
G |
G |
C__11414579_10 |
rs1876437 |
|
|
|
|
17 |
27681937 |
0.23 |
0.07 |
0.14 |
0.22 |
hCV11414579 |
GGTTGCGGCAGGTTGCTAAGCAAGCATTCTCTGGGCCTTC[T/C]TAAGAGCCACATGGAAAACAGAAGCCTTCAAGAAGAGCCA |
C |
C |
C___2637858_10 |
|
|
82-kD
FMRP Interacting Protein|crystallin, beta A1 |
182-FIP|CRYBA1 |
Intron |
17 |
27725186 |
|
|
0.28 |
0.36 |
hCV2637858 |
AAAATGCTGAAGTAACCTTTCAGTAAGTGGGAATGACTGA[A/C]GAAATAGGCAAGTCTTCCAGTATCGATCTACACTGATTGA |
A |
A |
C___2637855_1_ |
rs3744630 |
|
82-kD
FMRP Interacting Protein|crystallin, beta A1 |
182-FIP|CRYBA1 |
|
17 |
27732456 |
|
|
0.27 |
0.29 |
hCV2637855 |
CCTTTAACTACTTTAAGACCTTTCTTGAGCGGCAAAACAG[T/C]GTGAAATTTAAAACTCAGTAAAGCAATGCTTTTGAGTGGA |
C |
C |
C___7474777_10 |
rs1712654 |
|
82-kD
FMRP Interacting Protein |
182-FIP |
Intron |
17 |
27746211 |
|
|
0.34 |
0.5 |
hCV7474777 |
GCAAATATTTATTGAGAAATGCTCACAGGGCCAGACCTAA[C/T]AGAACGTAAGTAAAAGTTTTTGCTCTTAAGATATACCCAA |
T |
C |
C__11620269_10 |
|
|
82-kD
FMRP Interacting Protein |
182-FIP |
Intron |
17 |
27756425 |
0.19 |
0.36 |
0.28 |
0.36 |
hCV11620269 |
CCCTAACATTGCTAAAAACAACCAACTCCTGTATTTACCT[T/C]CAAAGAGCAGAGCTGGAGAATAAGTGAAATCAGGTAAATG |
C |
C |
C__11624957_10 |
|
|
hypothetical
protein BC004507 |
LOC90313 |
|
17 |
27921230 |
0.1 |
0.08 |
0.11 |
0.03 |
hCV11624957 |
TATCTCTTGTCTCTCTGAATTTCTGGAAGTTGCTATTCTG[A/C]ATTTTCTCTGTTCTTAACAACTTTAAAGTTTTTGTATATC |
A |
A |
C___7472251_1_ |
rs894606 |
IMS-JST026038 |
G
protein-coupled receptor kinase-interactor 1|hypothetical protein
BC004507|hypothetical protein FLJ25555 |
GIT1|LOC90313|FLJ25555 |
Intron |
17 |
28054915 |
0.38 |
0.11 |
0.31 |
0.31 |
hCV7472251 |
CTAGGGGTTAATGCCAATTAATAAACGCTGCCGTCAGTCA[C/T]CATCTACCACGTGTGCTGTGTGCCCTGCTTAGATACTATT |
C |
C |
C___2923618_1_ |
rs3744626 |
|
G
protein-coupled receptor kinase-interactor 1|hypothetical protein FLJ25555 |
GIT1|FLJ25555 |
Intron |
17 |
28057120 |
0.19 |
0.44 |
0.4 |
0.49 |
hCV2923618 |
GGAGATGCCACCCATCCTAGGCCCCTTGGGAGACAGCTGC[A/G]TACGACTCAGGCTGCGGAAAGGTCACGGGGGAGAAAGCAG |
G |
A |
C___2923617_10 |
rs3110492 |
|
G
protein-coupled receptor kinase-interactor 1|hypothetical protein FLJ25555 |
GIT1|FLJ25555 |
Intron |
17 |
28067838 |
0.47 |
0.4 |
0.19 |
0.25 |
hCV2923617 |
CTCAAGGAGTCTCTGTTCTGGTGAAGCAAGTGTGAACAGG[A/G]AATTCCAGGGTGATGTGCAAAGCGCTAAGACATGGCCAGC |
A |
A |
C___2923936_10 |
rs3098945 |
|
G
protein-coupled receptor kinase-interactor 1|hypothetical protein FLJ25555 |
GIT1|FLJ25555 |
Intron |
17 |
28069742 |
|
|
0.13 |
0.06 |
hCV2923936 |
TGAGCACAGGCTCTGCGTCCCTCACCTTCCTCGCAAGCAC[C/T]GTGTTTAGTCCATACATGAGATGTATGCTTTTCATACTTC |
C |
C |
C__15882152_10 |
rs2289629 |
|
hypothetical
protein FLJ14871|slingshot 2 |
FLJ14871|SSH2 |
|
17 |
28105466 |
|
|
0.12 |
0.05 |
hCV15882152 |
AATTTCAGTGACAATTTCTTTGACTGAAATTGCATTTTCC[G/A]AGTGAGACTGCATGAAGATGTCTGGGCTGACCAGTTCTGA |
A |
A |
C__11424068_10 |
rs1986555 |
|
slingshot
2 |
SSH2 |
Intron |
17 |
28160011 |
0.43 |
0.11 |
0.27 |
0.29 |
hCV11424068 |
TGCATAAGATAGAGAGCTGTACTTTTGACTTCATGTTCCA[A/T]GAAGTAATTGAGCATTTAAAACCAAATTCACTTATGAGAA |
T |
T |
C____445421_10 |
|
|
slingshot
2 |
SSH2 |
|
17 |
28180577 |
0.45 |
0.45 |
0.26 |
0.28 |
hCV445421 |
AAAGTGACATTCTGTTGGTCACAAGGGGACCAGAAATAAG[T/C]GTGTGGCTGATTACAAAAATCTCTTATCATAACAGAAAAA |
C |
C |
C___7474840_10 |
rs1038088 |
|
slingshot
2 |
SSH2 |
|
17 |
28220126 |
|
|
0.27 |
0.3 |
hCV7474840 |
ACAATCTATTTATAAATTACTGGCTACACCCTTTCCAAAT[G/T]ACAGGAACACCTAAAAAGGCCTTGATGTTCTTAGCATATT |
G |
G |
C___1879539_10 |
rs2617874 |
|
slingshot
2 |
SSH2 |
|
17 |
28230735 |
0.42 |
0.11 |
0.27 |
0.3 |
hCV1879539 |
ACAAATATTCCAAAAATTCTTTAAAAGTTTGTCTTAGTAG[C/G]AAAACTCAGTATAGCAAATATATTTTTCAGGAAGTTGAAG |
C |
C |
C___3100080_10 |
|
|
slingshot
2 |
SSH2 |
|
17 |
28248062 |
|
|
0.27 |
0.3 |
hCV3100080 |
TATTCACCAAATTAATATACAACAGAACTGCAAATAATAC[A/C]GTTCTAGAACAGAATTAGCATCAAATTCACTAAAACATTT |
C |
C |
C___1879528_10 |
rs2617883 |
|
slingshot
2 |
SSH2 |
|
17 |
28266051 |
0.45 |
0.38 |
0.27 |
0.32 |
hCV1879528 |
AAAACTGAAGGCTGAAATGTTCTTCAGTTGATATTTTCCT[G/A]AAAGGTAAGGAAATTTTGCTTTTTTATTACCCCCAAGATA |
A |
A |
C___1879516_10 |
rs3794730 |
|
|
|
|
17 |
28295922 |
|
|
0.11 |
0.05 |
hCV1879516 |
GGTACATTTTGGGTACATATGATTACAAACTTATAGAAGA[A/G]TTTCCAGAACAGTATAAAGCAGGTATTTTCTTCACCCACC |
G |
G |
C__11630193_10 |
|
|
|
|
|
17 |
28336524 |
0.43 |
0.14 |
0.27 |
0.3 |
hCV11630193 |
ACTTTGAAAAGATTCCTGAGTGTACAAAAGCAACTGAGGA[C/T]GCCAGCTTCTATGAAAGTAACTTTGATGGACAGCTACCAT |
T |
T |
C____409910_10 |
|
|
|
|
|
17 |
28391921 |
0.43 |
0.14 |
0.27 |
0.31 |
hCV409910 |
TCTCTCCCCATCTGTTTCTAAGCACATCCTTTCCCACTCA[A/G]TAAATGAAGTACTTCCCTCTATCTTTCAGGAAGTCTAGGG |
A |
A |
C____403750_10 |
|
|
|
|
|
17 |
28519675 |
0.4 |
0.39 |
0.27 |
0.35 |
hCV403750 |
TTATCAGTATTGCTATACTTTGCAGTATATACTTAGCAGT[A/G]ACATTTTTGATATCTGGGAATAGTTTTAACAATTTTCTTG |
G |
G |
C__11613678_10 |
|
|
hypothetical
protein DKFZp434K1421 |
DKFZP434K1421 |
Intron |
17 |
28589746 |
0.39 |
0.25 |
0.26 |
0.19 |
hCV11613678 |
TCCAAAAGCTCGGTCTGAGGCCCCTCAGTCTTGCTTCCTA[A/C]CCCGCGCTTGAGTTTCTCCCCGCTTGGATGCTCTCAGGGG |
A |
A |
C____463636_10 |
|
|
hypothetical
protein DKFZp434K1421 |
DKFZP434K1421 |
Intron |
17 |
28589817 |
0.37 |
0.12 |
0.27 |
0.17 |
hCV463636 |
CTCTCAGGGGCAGTGTGAAGAGAGACAGTTCCTGGCTTCC[A/T]TAGAGGGCCTTGTTCTCCTTGGCAGAAGCTCAAGTCCTGA |
T |
T |
C____360190_10 |
|
|
hypothetical
protein DKFZp434K1421 |
DKFZP434K1421 |
Intron |
17 |
28602612 |
0.08 |
0.02 |
0.06 |
0.07 |
hCV360190 |
GTGAAAAAGCAAGAAGAGAGAAAAGGAAAAGGATGGAACT[A/G]AGACAATTCTATTAGAAGTGGGGAGATGGCAAGAAAATTC |
G |
G |
C____432572_10 |
|
|
hypothetical
protein DKFZp434K1421 |
DKFZP434K1421 |
Intron |
17 |
28615654 |
0.4 |
0.3 |
0.24 |
0.15 |
hCV432572 |
TGAAGTTAAATAACAAAATTAGCTTTCTGTTTCTCCAAAA[T/C]CATACACATCTGCTTCCATATACTGACAGGCTTTGATATT |
T |
T |
C____474626_10 |
|
|
hypothetical
protein DKFZp434K1421 |
DKFZP434K1421 |
Intron |
17 |
28628051 |
|
|
0.26 |
0.14 |
hCV474626 |
CCAATTCTAGAAAATTACCAGTCATTCAAATATTTCTTTG[C/A]ATCTGTTTAGTTTATATGTCTTCCTCTGGGTCTTCTGTTA |
A |
A |
C__11415883_10 |
rs1979572 |
|
hypothetical
protein DKFZp434K1421|solute carrier family 6 (neurotransmitter transporter,
serotonin), member 4 |
DKFZP434K1421|SLC6A4 |
Silent
Mutation |
17 |
28657541 |
0.38 |
0.47 |
0.23 |
0.18 |
hCV11415883 |
GAACGTCGAGAGGACATGAGAAAAGGGAAGATCAGCACCA[A/G]CAGAAGCAATCCAGAGACCAAGAGAACCATTACACTGACC |
G |
G |
C___7911143_10 |
rs140701 |
|
solute
carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
SLC6A4 |
Intron |
17 |
28684095 |
0.38 |
0.32 |
0.25 |
0.19 |
hCV7911143 |
AAAGATGTCACAGAGGAAAACTCAGCCACAACAACAGTTA[C/T]AATTCTCATCACAAGACCTTATGTGTGAATCAGGTTTTGA |
C |
C |
C___1841702_10 |
rs2066713 |
|
solute
carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
SLC6A4 |
Intron |
17 |
28697228 |
0.44 |
0.3 |
0.12 |
0.04 |
hCV1841702 |
AGCGTTCCCTGGCCTCTCTACCCAGGCCCAGAGGGTCTAC[G/A]GAAGGGAAATGCGGTCCATCTCAGAAGCAATACTTTGGGG |
A |
A |
C___7473213_1_ |
rs1050565 |
IMS-JST027154 |
bleomycin
hydrolase |
BLMH |
Mis-sense
Mutation |
17 |
28721639 |
0.36 |
0.18 |
0.22 |
0.15 |
hCV7473213 |
CACTCAGCCAAAGCTCCCATGGGGTCCCATGCTGGCAGGA[C/T]AATGGGTTCCTGCTCTAACACAGCTAGCACCTCTTCAGGG |
C |
C |
C___7911250_10 |
rs3794806 |
|
bleomycin
hydrolase |
BLMH |
Intron |
17 |
28732466 |
0.33 |
0.18 |
0.23 |
0.15 |
hCV7911250 |
CACTAAGCCCACACTATGGGTCATCTGCCCACTACACTGG[G/T]GATGTAGCATAATGATCACATTAGGGCACTGAATTTTTAG |
G |
G |
C___7911275_10 |
|
|
bleomycin
hydrolase |
BLMH |
Intron |
17 |
28744280 |
0.49 |
0.27 |
0.24 |
0.2 |
hCV7911275 |
TCATTTAGGCAAGAAAACTTTAAAAAATAATGAAAAAAGC[T/G]TTTGAAGTAACTTCTTAGAAAACTGATCTCTTTTGAGCTG |
T |
T |
C___7911284_10 |
|
|
bleomycin
hydrolase |
BLMH |
Intron |
17 |
28749852 |
0.5 |
0.26 |
0.24 |
0.19 |
hCV7911284 |
TTTCTACCACAGAAAGGAGGCAGAGTATCACATAAGCAAC[C/T]GTAATTGAGTTACTCTAGCCAAGGATTAATGAGCTCTGTT |
T |
T |
C___7911302_10 |
|
|
bleomycin
hydrolase |
BLMH |
Silent
Mutation |
17 |
28758011 |
0.35 |
0.23 |
0.22 |
0.15 |
hCV7911302 |
CCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTT[C/G]GTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGA |
C |
C |
C___7911329_10 |
rs3764449 |
|
bleomycin
hydrolase |
BLMH |
|
17 |
28766666 |
0.32 |
0.24 |
0.22 |
0.15 |
hCV7911329 |
ATTTGCAAGTGTGCAGATCTGAACTGAGTTTGGGCCATAG[T/C]AAAATTAGGATGCCCCACAGGACACCCAGGAAGAGAAGTT |
T |
T |
C___2645192_10 |
|
|
carboxypeptidase
D |
CPD |
|
17 |
28851438 |
0.43 |
0.45 |
0.12 |
0.27 |
hCV2645192 |
GAAGCCCCGCCCCCTGGTGGTGACGCTCCACCAGGCCCGT[T/C]CGCGATTGGCTGCGGCCAGAGGGCGGGATGGGGTTGCTAG |
C |
C |
C___2980207_10 |
rs3794794 |
|
carboxypeptidase
D |
CPD |
Intron |
17 |
28866304 |
0.44 |
0.29 |
0.12 |
0.26 |
hCV2980207 |
ACTGTCCTTATATCTAATTTTCCTGCAGAGTCTGTTTACT[C/A]ATTTGAGGTGTGGATGACTAAGAAACCAGCTGTCACGCTT |
A |
A |
C___2980233_10 |
rs2191351 |
|
carboxypeptidase
D |
CPD |
Intron |
17 |
28904598 |
0.49 |
0.17 |
0.13 |
0.26 |
hCV2980233 |
TAGTTAATAAAGCATGACTTTTTCAGCTGTTTCCGAAAAA[C/T]AGCTTTTTCTCCTGTTTCCCACCTCACTTTTGAATACACT |
T |
T |
C___2980234_10 |
|
|
carboxypeptidase
D |
CPD |
Intron |
17 |
28906502 |
0.46 |
0.42 |
0.12 |
0.26 |
hCV2980234 |
ATTCTCCTCCATTTCTTGATCCCACTGCATTCTGCCTCCT[C/G]GAATCTTGTGTCTTCATATCTTATTTTATAAATGAGGAAG |
C |
C |
C___2645214_10 |
rs3829594 |
|
golgi
SNAP receptor complex member 1 |
GOSR1 |
Intron |
17 |
28988101 |
|
|
0.13 |
0.26 |
hCV2645214 |
TGTCTCTTCTCCTGAGCTAGGTCTTCTACTGGACTAGGGG[C/A]AGCCACCTAGCTGCATGCGTTAGGAAGGGCAATTTTGGGT |
C |
C |
C___1083154_10 |
rs170053 |
|
DKFZP434O047
protein |
DKFZP434O047 |
|
17 |
29038646 |
0.44 |
0.15 |
0.19 |
0.25 |
hCV1083154 |
ATAGCCCTTCACAATCCAACCACAGATCTTCAGCTTCTGC[C/T]TTGATGACGGGGTGAAACATTCTGTGCGGTGGGCAGGGTG |
C |
C |
C___7472370_10 |
rs1054400 |
|
cytokine
receptor-like factor 3 |
CRLF3 |
UTR
3 |
17 |
29255517 |
0.09 |
0.17 |
0.03 |
0.24 |
hCV7472370 |
ATATGTAAAAATAATTGTCTTCTATGCCACCCTACAGATT[C/T]TATTTTAATGTGAATTATTTTTTTCATTTCATTTTTACCA |
G |
G |
C___1955763_10 |
|
|
cytokine
receptor-like factor 3 |
CRLF3 |
Intron |
17 |
29271013 |
|
|
0.04 |
0.24 |
hCV1955763 |
AGAGTTCTGGCAGTGTTCTTCAGGGCTGTGGAAGGACATA[G/T]AAGTTGGTCATTTTCATATCATATGCCTCTATGTAACTTT |
A |
A |
C___1955756_10 |
|
|
cytokine
receptor-like factor 3 |
CRLF3 |
Intron |
17 |
29281989 |
0.09 |
0.07 |
0.05 |
0.24 |
hCV1955756 |
GTGGAGCTGCATTTTTAAATTAGTTTCATAAAGTCAAGCA[G/A]ATGAACTTGATTAGTTACATGATTGGATTAAAGGTGACTA |
C |
C |
C___1955755_10 |
|
|
cytokine
receptor-like factor 3 |
CRLF3 |
Intron |
17 |
29282031 |
0.09 |
0.15 |
0.05 |
0.24 |
hCV1955755 |
AACCATTGGTACCACATCAAATATGAAGAAATTCACTCAG[C/T]AGTGGAGCTGCATTTTTAAATTAGTTTCATAAAGTCAAGC |
A |
A |
C___1955747_10 |
rs999798 |
|
cytokine
receptor-like factor 3|hypothetical protein FLJ12735 |
CRLF3|FLJ12735 |
|
17 |
29304403 |
|
|
0.04 |
0.24 |
hCV1955747 |
CGTGGAATTGAAAGCCAACCCGGGAGTTTGGAAATTTGAA[C/T]TTCTGTCCTATCAGTTTCACCGTTGAGGACGTGATTTCAC |
G |
G |
C___1955744_10 |
|
|
hypothetical
protein FLJ12735 |
FLJ12735 |
Silent
Mutation |
17 |
29307736 |
0.08 |
0.22 |
0.05 |
0.23 |
hCV1955744 |
CAACATTAGATTTTCTTTTCTGAACTGTCTGTTCATTCTC[A/G]GGATCAGATAAACTATTTTCCATTTCAAATTGCTTTTGTT |
C |
C |
C____148865_10 |
|
|
hypothetical
protein FLJ12735 |
FLJ12735 |
|
17 |
29350364 |
|
|
0.04 |
0.24 |
hCV148865 |
GTTAAAAACAAACGCAGCCACCTATAACTAGACAGATATG[A/G]ATCAGAATAATTTATACAATCATTTAACAATAATTAGCAG |
T |
T |
C____146716_10 |
|
|
hypothetical
protein FLJ12735 |
FLJ12735 |
|
17 |
29351996 |
|
|
0.04 |
0.24 |
hCV146716 |
AGCAGCCATCAAACATTAAACTAAATGTTGGGTCTACACA[C/T]ACACACACACACAAAAAAAAAAAATTCTTAAACACTAAGA |
A |
A |
C____516198_10 |
|
|
hypothetical
protein FLJ12735 |
FLJ12735 |
|
17 |
29359506 |
0.08 |
0.06 |
0.04 |
0.24 |
hCV516198 |
TACTTAATCCTAAGGGGTTTTATCAAGGTTTATAAAACTG[T/C]CTTCAGTGTTCAGGTTGGAGAATCTCCTATAAAAGTTTCC |
T |
T |
C__11413173_10 |
rs2433 |
|
hypothetical
protein FLJ22729 |
FLJ22729 |
Mis-sense
Mutation |
17 |
29371791 |
0.08 |
0.07 |
0.05 |
0.23 |
hCV11413173 |
TAAGGCTGAGAGTCAAACACTGCTAATTCATAGAAGGCAA[T/C]AGCTTGTAATAATGAATCATAAAGCTCTTCTACTCTTTGT |
C |
C |
C__11616069_10 |
|
|
hypothetical
protein FLJ22729 |
FLJ22729 |
Intron |
17 |
29374124 |
0.1 |
0.07 |
0.05 |
0.28 |
hCV11616069 |
AGTGGTCAGGGAAGGTTTACTGGAGGACTAGGAGAATGAG[A/G]CAGTAAATGGGAAGTTATTTCACCCAGATGTCTGGAAAGA |
G |
G |
C__15877774_10 |
rs2269915 |
|
hypothetical
protein FLJ22729 |
FLJ22729 |
|
17 |
29378907 |
0.1 |
0.07 |
0.03 |
0.23 |
hCV15877774 |
CGGAAAGGTTGTTGTCCAAGCGGCGTTCCGGGGCAAGGCC[T/C]GAGGTGTGTCCCGCTGAGCAGTGGGTCGTCCGCGTCTGGG |
T |
T |
C___1214794_10 |
|
|
hypothetical
protein FLJ22729 |
FLJ22729 |
|
17 |
29379451 |
0.08 |
0.07 |
0.05 |
0.24 |
hCV1214794 |
GAGATGAATGTAGCGCCGAATTTAGTTGGTCCTTGAATAA[T/A]GGGTGGAGCAGTTGAATACTCCACCAGATAGGAAGCCTGA |
A |
A |
C__11619935_10 |
|
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
NF1 |
Intron |
17 |
29569552 |
0.18 |
0.14 |
0.42 |
0.47 |
hCV11619935 |
GATTCTGCTGTCCACAAGGTTCAGCTTTGGAAGTCTTCTA[C/T]GTGCCTTTTAAATCCTTTCTTAAAATTACAGAGAGTCTTT |
A |
A |
C____312828_10 |
|
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
NF1 |
Intron |
17 |
29589177 |
|
|
0.33 |
0.48 |
hCV312828 |
TTTCAAGGCCCTATCAAAACATCATGACCACATCTTTGAA[G/A]TAGTTACTTTTATCACTCAATATAGTTAGAAAATTTTATT |
G |
G |
C___7562786_10 |
rs1124918 |
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
NF1 |
Intron |
17 |
29637986 |
0.2 |
0.17 |
0.43 |
0.47 |
hCV7562786 |
AGTTCCATTTAGCTTGTGTCAGAAATAGGAGCTGATCTTA[T/C]TGAAGGATCACTCACCTAAAAGACCATTATGATGGTTTAG |
C |
C |
C___2557613_10 |
rs2953014 |
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
NF1 |
Intron |
17 |
29641458 |
0.34 |
0.05 |
0.24 |
0.34 |
hCV2557613 |
ATTCCACTTCATTGGGGGCTGCAAAATGAAACGTTTTCTA[T/G]TCTGTCATTCATTCTTTATTTTAAAATTGTGACTTCTATG |
G |
G |
C___2557599_10 |
rs2905804 |
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
NF1 |
Intron |
17 |
29665558 |
0.18 |
0.29 |
0.43 |
0.47 |
hCV2557599 |
TTTAAAAATTGTGAATAAGTAATACTTCCATAAATTCTGA[T/C]TTAATTACGAATCCCACTAATTTCTTTTTTTTCTTTCCCA |
T |
T |
C___8542039_10 |
rs2905881 |
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
NF1 |
Intron |
17 |
29693425 |
0.18 |
0.16 |
0.43 |
0.47 |
hCV8542039 |
ATAGAGAATTTGTCACTTAAAAAAACTAGTGCCAGTAAAT[T/C]GTACCACGTTTTTGTACAATAGTAGCAAAATTGAATTTTA |
T |
T |
C___2557569_10 |
|
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
NF1 |
Intron |
17 |
29723923 |
|
|
0.43 |
0.48 |
hCV2557569 |
GAAGTGAGTATATTGCTAGCTAATAAACTTCCCTGGACTT[C/T]AGCTCCTTTTTTGAGTTCATATCTTGGCCTTTAAGCCTTT |
C |
C |
C___2193435_10 |
|
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson
disease)|oligodendrocyte myelin glycoprotein |
NF1|OMG |
Intron |
17 |
29759163 |
0.23 |
0.24 |
0.43 |
0.48 |
hCV2193435 |
ATGTGATCTTGTGGAAAAGCCATACCATGAGGAAATTTTA[G/C]CTCCTATAAATAGGTGAAACTATTTTTAAACAATTGTTTG |
C |
C |
C___2533273_10 |
|
|
ecotropic
viral integration site 2B|neurofibromin 1 (neurofibromatosis, von
Recklinghausen disease, Watson disease)|oligodendrocyte myelin glycoprotein |
EVI2B|NF1|OMG |
Intron |
17 |
29771201 |
0.24 |
0.17 |
0.43 |
0.48 |
hCV2533273 |
CTCGAAAAGTATCTGCATTTTAAGAGTCCGCAACATAGAA[G/A]TTTATTGTTGATTGGGTGCTTTATTGCCACTTTACTTTGA |
A |
A |
C___7562823_1_ |
rs7505 |
IMS-JST005697 |
ecotropic
viral integration site 2A|ecotropic viral integration site 2B|neurofibromin 1
(neurofibromatosis, von Recklinghausen disease, Watson disease) |
EVI2A|EVI2B|NF1 |
UTR
3Intron |
17 |
29790415 |
0.37 |
0.23 |
0.37 |
0.43 |
hCV7562823 |
TTGGTTGATAAGCTGGTGTGGATTCTGCCACATCCAGCAA[A/G]GAAGATACCATTAAATTACACAGTTTAGCTCTCTCTATCT |
A |
A |
C__11941321_10 |
rs2057769 |
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
NF1 |
Intron |
17 |
29836931 |
0.22 |
0.22 |
0.29 |
0.44 |
hCV11941321 |
TTGACATGAAACATTTATAGCAAAGGATTGAATGCGTGCA[G/T]ATCAGCAACATTTGCTTTTTGAAATAGGGCAATGGAACCT |
C |
C |
C___7562857_10 |
rs1800845 |
|
neurofibromin
1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
NF1 |
|
17 |
29849001 |
0.24 |
0.13 |
0.49 |
0.43 |
hCV7562857 |
ACTTACTAGTCAAAGGTATTTTTGCATTTCAAAGGCGGCT[G/C]AATTTTGATTTGTGCCAATGCTGATCATTTCAGGCGGTAT |
C |
C |
C___1083716_10 |
rs178858 |
|
rab11-family
interacting protein 4 |
RAB11-FIP4 |
Intron |
17 |
29919314 |
0.33 |
0.3 |
0.27 |
0.34 |
hCV1083716 |
TCCCAGCAAGTGGCTGGTATCTCCCTCGGGCACAGGTACC[T/C]GGAGAAGCACCGTCCAGTGTATCTTAGGGGCTTGGATTTC |
A |
A |
C___2181826_10 |
|
|
rab11-family
interacting protein 4 |
RAB11-FIP4 |
Intron |
17 |
29959625 |
0.48 |
0.23 |
0.42 |
0.43 |
hCV2181826 |
TGGCCAACAAAGTGGCAACGGCACTTTGGTACGGGCAGGA[C/T]CAGTGGGGCATCTGGGTGCTTTGGTCCTGCACCACCCTAC |
A |
A |
C___2181841_10 |
|
|
rab11-family
interacting protein 4 |
RAB11-FIP4 |
Intron |
17 |
29968419 |
0.45 |
0.38 |
0.44 |
0.5 |
hCV2181841 |
AGTCACAGTTCCGCAGACTGTGTGTGTGCAGTGAAGGGCA[A/G]TCAACAACTCCACACAAGCACATGAGCACACACCTGCTGC |
C |
C |
C__16210542_10 |
rs2343245 |
|
rab11-family
interacting protein 4 |
RAB11-FIP4 |
Intron |
17 |
29980780 |
0.34 |
0.26 |
0.39 |
0.34 |
hCV16210542 |
AAACATCCCGAACAGCTGAGCCATCCACTGTGGGGAGACG[C/T]TCTCACTCCTCTCTCCCCACTGTGCCACTTCCGTTCCAAT |
G |
G |
C___2181873_10 |
|
|
rab11-family
interacting protein 4 |
RAB11-FIP4 |
Intron |
17 |
29994461 |
|
|
0.28 |
0.3 |
hCV2181873 |
GTCTGCCCCGCACTGATTCATGAGGGAAAGGAATCACCAC[G/C]TTAACTGCTGTCCAGTCTGGTGCCCTACACCACCCTGCTG |
C |
C |
C___1138520_10 |
rs739630 |
|
rab11-family
interacting protein 4 |
RAB11-FIP4 |
|
17 |
30016530 |
0.25 |
0.1 |
0.3 |
0.23 |
hCV1138520 |
GAAATGCCAGCTTGACCCTTCTGCCTTTGGTACAGTAACA[C/A]CTGACACTTTTCCCTTTGATCAAATTTCACAGCCACCAGA |
G |
G |
C___1008704_10 |
|
|
|
|
|
17 |
30096443 |
0.36 |
0.19 |
0.46 |
0.43 |
hCV1008704 |
TACTTATGATTTTTCAACTTTACAATGGTGAAAAGCAATA[C/T]GCATTCAGTAGAAACTATACTTCAAATTTTGAATTTGGTC |
A |
A |
C___1008802_10 |
rs191145 |
|
|
|
|
17 |
30169700 |
0.39 |
0.33 |
0.42 |
0.42 |
hCV1008802 |
TCGTCACTGGGAGAGTATAACCGAGGTTGCTGACCACTGT[C/T]AGGGACACTGCAGTGGACCTTTCCTGCAGTGCTTCGAGAC |
G |
G |
C___7475228_1_ |
|
|
hepatocellular
carcinoma-associated antigen 66 |
HCA66 |
Intron |
17 |
30365050 |
0.12 |
0.1 |
0.1 |
0.15 |
hCV7475228 |
TAAAAAGATATTTAAAGTGTTTAGTGGTTTAATTGAGGTA[G/C]AAAATTTTGAGGGTCTGTGTTCGTTTATATATCCCTAGCA |
G |
G |
C___7475242_10 |
rs886224 |
|
hepatocellular
carcinoma-associated antigen 66 |
HCA66 |
|
17 |
30375452 |
0.12 |
0.06 |
0.1 |
0.14 |
hCV7475242 |
CACAAGCCAACCCTCGTCTCAGTTCTGAGATGAGTGGGTA[G/A]AATGTGAAAGGAAAGAAAGAAATGCAAGGCACAGAGGTGG |
C |
C |
C____957168_10 |
rs546748 |
|
joined
to JAZF1 |
JJAZ1 |
Intron |
17 |
30469843 |
|
|
0.12 |
0.16 |
hCV957168 |
CTACGAGAGTTAGGATGGGCACCAGTGATTTCTGAGGAGG[G/T]TCTATGATGATGACACCCTTTCCTACGGACACCAGGGTTG |
C |
C |
C____708991_10 |
rs753750 |
|
rhomboid,
veinlet-like 4 (Drosophila) |
RHBDL4 |
Intron |
17 |
30760254 |
0.3 |
0.38 |
0.09 |
0.03 |
hCV708991 |
CCAGCAGTAGACATCAGGCTAAACCCGAAGGCAGGAGCCC[A/T]GTGGGCTGGTGAGGTAAACCAGGCCAGACCACGGCACAGG |
T |
T |
C___2648702_10 |
|
|
rhomboid,
veinlet-like 4 (Drosophila) |
RHBDL4 |
Mis-sense
Mutation |
17 |
30770755 |
0.18 |
0.18 |
0.46 |
0.29 |
hCV2648702 |
GACACGGGGCCTACCTGCCTACCTGCCACAACACCGGCCA[C/T]GTAGACAAGCCCAATTCGGGTGGCTCCATGCACCATCTCC |
A |
A |
C___2648741_10 |
|
|
protein
kinase Njmu-R1 |
NJMU-R1 |
Intron |
17 |
30804556 |
|
|
0.32 |
0.49 |
hCV2648741 |
TCATTATTATTTCACTTAACACATTTTTAACTGGGTAATC[T/A]TTTTCTAGGCCATACAAGACACAAACAATTTGAAGAGATT |
T |
T |
C___2648773_10 |
|
|
zinc
finger protein 207 |
ZNF207 |
|
17 |
30847869 |
0.12 |
0.12 |
0.1 |
0.01 |
hCV2648773 |
ATGGTAGGTAATAGAGAAAACAGATCTCCAATTAAGGACT[T/C]TTAAATGTTGATTACTGAGGTTATAAAATAGTCCAATGGG |
A |
A |
C___2648811_10 |
|
|
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 11 |
PSMD11 |
Intron |
17 |
30929584 |
0.38 |
0.27 |
0.12 |
0.06 |
hCV2648811 |
AAGGCCAGGAAATCCTACTAGCGAACTATAGCAGAGCACT[C/T]GAATGGATTTCCACAAAGGAACAGGAGAAATGATCATTAA |
G |
G |
C___2648824_10 |
|
|
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 11 |
PSMD11 |
Intron |
17 |
30944075 |
0.12 |
0.23 |
0.1 |
0.01 |
hCV2648824 |
CTTTTCTAAGCCTGATAGTTTTATATTTATGCAACTGTCA[C/T]GGGGCATGGGAGAGGGAATCCAACATCTTATATTTTCATT |
G |
G |
C___2537001_10 |
|
|
cyclin-dependent
kinase 5, regulatory subunit 1 (p35)|proteasome (prosome, macropain) 26S
subunit, non-ATPase, 11 |
CDK5R1|PSMD11 |
|
17 |
30955005 |
0.38 |
0.26 |
0.11 |
0.06 |
hCV2537001 |
TAACAGCTTTGGCCAGATGAGAGCTAGACTAGTGTGGGGC[C/T]ACACAGAGCTGTCTGGACTTGCTTGGAAGCCCTCCAGCAC |
A |
A |
C___2536935_10 |
rs1989805 |
|
|
|
|
17 |
31019412 |
0.43 |
0.3 |
0.49 |
0.45 |
hCV2536935 |
GCCTTCAATAATGGAGCTCAGTGATAGCCTAGATAACCCA[G/A]ACAAAATAAAGCAAACATCACTTTGAGGTGCACCTCTGAA |
C |
T |
C___1010235_10 |
rs321153 |
|
|
|
|
17 |
31094103 |
0.4 |
0.28 |
0.4 |
0.34 |
hCV1010235 |
CTTTGATAAGGAACACATGGGAACCATCAGTCTTCTAAGC[T/A]AGGAGAACCTTTTTAATCCATCCATAGCTTTTACTGTCTT |
A |
A |
C___3197074_10 |
rs321158 |
|
|
|
|
17 |
31099394 |
|
|
0.28 |
0.43 |
hCV3197074 |
GTGAGCCACGTCGTTTTAAAATACTTCTAAGAAATGTGAC[G/A]ACTAAGCCACATTCTCTCTCTTTTTTTGTTAATAAGAGAG |
T |
T |
C___1010227_10 |
rs321183 |
|
|
|
|
17 |
31106087 |
0.45 |
0.35 |
0.37 |
0.47 |
hCV1010227 |
GGAGGAGAAAGAGAAGAAAAAGAAGAAGAAAGCAAGCTAT[C/T]TATGAAGGGGGTAAGAGGAGGATGTAAGTAAAGAGGAAAG |
A |
A |
C___3197069_10 |
rs1979706 |
|
|
|
|
17 |
31120049 |
|
|
0.4 |
0.48 |
hCV3197069 |
TTTACTACAGAAATGCCTGATGTCTCTATCTTTCCAGCAA[T/C]GACAATTTTATGTCTGACAGAGAACATGTCTTTACCTGGG |
A |
A |
C___3197066_10 |
|
|
|
|
|
17 |
31129334 |
0.24 |
0.3 |
0.2 |
0.32 |
hCV3197066 |
TTAGGAAGCCACTGAGTATTGTAAGACCCACCTGTCACAG[T/C]GTCCTTGACTTTGACCACCAACTGCTCTAAGTCTGTCACT |
G |
G |
C___3197064_10 |
rs2640837 |
|
|
|
|
17 |
31136300 |
0.4 |
0.37 |
0.46 |
0.47 |
hCV3197064 |
TGTACCAGAGGGAGGGCTTAGAATACCCCACACCTTCATC[A/G]GGGACCCTTTCTTTCATCAAGAAGACTTCTTTCACAAGCA |
C |
C |
C___3197060_10 |
rs2111916 |
|
|
|
|
17 |
31146671 |
0.26 |
0.36 |
0.19 |
0.32 |
hCV3197060 |
GAGCTGTTCGTCAGAACGTTGAAACAGCCTCACTTTGGAG[T/C]TCAGGAATTCAAGCTTCATACATGGAAGTTGACATTGTTG |
A |
A |
C___3197057_10 |
rs2729348 |
|
|
|
|
17 |
31160778 |
0.31 |
0.45 |
0.2 |
0.32 |
hCV3197057 |
TGAATCATTTTATAAGTAGGAGTTGATTCAAGGTTATTCC[C/T]ATGGAATTTATACGTGCTTTCTTGAGTGGGCAAGGAAGGC |
G |
G |
C___3197053_10 |
rs321164 |
|
|
|
|
17 |
31164793 |
|
|
0.47 |
0.49 |
hCV3197053 |
AATTGCTCATATTCTTTGTCATGGCACATGTAAACACATT[A/C]TGCTTGGACTATCAAGTTTTGCTAACCTAAAACAGAAAGT |
G |
G |
C__11623912_10 |
rs1689835 |
|
|
|
|
17 |
31171376 |
0.36 |
0.32 |
0.47 |
0.48 |
hCV11623912 |
TATTATTGGATTATATTATGGCTTTAGCTCCCTTATCACA[G/A]GAAAGATCTTGTGAAGGATTAAAAGTGGCTCATTAAAGCA |
T |
T |
C___2032947_10 |
|
|
|
|
|
17 |
31196722 |
0.36 |
0.1 |
0.47 |
0.45 |
hCV2032947 |
TTTATTCACCAAAAAGTAAAGGCATTCTATTCCAGCAAAC[T/C]AGTAGAAAATCCTTAAGTAAACAGTGCCTCCGCCCGACTT |
A |
A |
C___2032926_10 |
|
|
|
|
|
17 |
31223894 |
0.3 |
0.27 |
0.2 |
0.33 |
hCV2032926 |
ACTATCAAAATATTTTAATCACTGTGAACTGTTTATTACA[C/T]ATGCTATTCTGTGTGTTGAGCTGGATATCATCATTTGCTA |
G |
G |
C___2032924_10 |
rs1990823 |
|
|
|
|
17 |
31230523 |
|
|
0.23 |
0.29 |
hCV2032924 |
TTTTAAAAGCTTTCGATGCTGTAGTTTGCAAATCATTTTA[A/T]CTATTGAGAACTTGATACTCAAGCACAAAGCTGTTTTATC |
T |
T |
C___2032916_10 |
|
|
|
|
|
17 |
31244879 |
0.39 |
0.4 |
0.22 |
0.32 |
hCV2032916 |
ACTTTTAAAAAAACAATCTGGATTTATAACTTCTAGGGAG[G/A]ATTGCCTTTTTAATCCATCAAGTTTAGAAAAAAATTTGAG |
C |
C |
C___2032915_10 |
|
|
|
|
|
17 |
31253395 |
0.41 |
0.33 |
0.23 |
0.32 |
hCV2032915 |
TTGGAAATAAGAGACTCACAGGACAGATACATCATTTCTC[C/T]GTAACCACAGCTACGTCTTCCTTTTCTTTTGCTTCTGTAC |
A |
A |
C___2032910_10 |
|
|
|
|
|
17 |
31258631 |
0.4 |
0.27 |
0.23 |
0.35 |
hCV2032910 |
CTGGAGAACTCTACTCCAGTGCCGGAGATTTGGAGAGGCA[C/T]ATATTCAGTCTTAGCAACCTGCCTCAACTAGGTCTAGTTT |
A |
A |
C___2032893_10 |
rs1362936 |
|
|
|
|
17 |
31286264 |
0.37 |
0.1 |
0.44 |
0.48 |
hCV2032893 |
CATGCTGTAGCCAGAACTTCTTAACATGACTTGGAAGGCC[G/C]TTGCATCATCAGCAATTAATTCTCCTCTCTTTTCTCTAGT |
G |
G |
C___2037163_1_ |
rs2270433 |
IMS-JST024934 |
|
|
|
17 |
31291897 |
0.38 |
0.28 |
0.46 |
0.49 |
hCV2037163 |
GAAGCTGGGAGATAGCCCTTCAGTTCCGGTCCAGTGATTT[G/C]TACCCCAGAATTCCTGTGAGATCTCTGTTTATCTCCTCAC |
G |
G |
C___2037175_10 |
|
|
|
|
|
17 |
31314602 |
0.38 |
0.28 |
0.47 |
0.48 |
hCV2037175 |
CTGGAGAAAATACTACTACTGCACAGATGGGTACAAATAA[A/G]TGTATAATTGCTAATCTCACTCAGATCTTCAAATTTATGG |
T |
T |
C___2037179_10 |
rs2470230 |
|
|
|
|
17 |
31321131 |
0.37 |
0.27 |
0.47 |
0.48 |
hCV2037179 |
CCTCAAGCCCACTAATGGCCTCTGTAACATACAAAACATT[C/T]AGTCTTCTTGATCATTCTGAGACTTGACTACCACAGAACT |
A |
A |
C____183819_10 |
rs2466830 |
|
|
|
|
17 |
31347533 |
0.29 |
0.34 |
0.31 |
0.31 |
hCV183819 |
AGAGTCTAACAGGGCTACATTAGTTTGTAGGACTACTCCT[G/C]TGTAATAGAATTAAAACTCTTGTGGTTTTTAAAAAGTAAA |
C |
C |
C____155881_10 |
rs2470224 |
|
|
|
|
17 |
31355408 |
0.41 |
0.37 |
0.33 |
0.31 |
hCV155881 |
CTGACAGTGATGGCTTGCTATAATTCTTCTCCATTCCAAA[T/A]TAATCAGGAATTGTGGTGTGATCTTTCCCTTAGCTCAGGA |
A |
A |
C___2552850_10 |
rs28923 |
|
DKFZP564K1964
protein |
DKFZP564K1964 |
Intron |
17 |
31407199 |
|
|
0.47 |
0.41 |
hCV2552850 |
ATTTCACTCCTCTTGGAGAAAGCTGTGTATTCCTGAGACC[G/A]TGTAGCTGCCAAGAGAAATGGGGTTTCCCTGCTTCCCCCT |
A |
A |
C___2261139_10 |
|
|
DKFZP564K1964
protein |
DKFZP564K1964 |
Intron |
17 |
31411295 |
0.28 |
0.05 |
0.48 |
0.42 |
hCV2261139 |
|
#N/A |
#N/A |
C___2552800_10 |
rs28907 |
|
sperm
acrosome associated 3|lysozyme-like sperm-specific secretory protein ALLP17 |
SPACA3|ALLP17 |
Intron |
17 |
31465125 |
0.48 |
0.26 |
0.33 |
0.34 |
hCV2552800 |
CAGATAAATAAGACCAGCCGCCGTTCTTCAGAAGTTAACT[T/C]TGTGGTGGGAAAGACTGACATCTATTCCAGCCTCGTGTGA |
T |
T |
C___2552744_10 |
rs16570 |
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31494580 |
0.4 |
0.19 |
0.06 |
0.07 |
hCV2552744 |
GGCATCCCCTACAATTCCTGTCTCCTCCAATGTGCCCACA[G/A]TTCCTCCAGTGCCCCTTGTTCTCAACCCACTGAGCAGAAG |
G |
G |
C___2552741_1_ |
rs3025245 |
IMS-JST035940 |
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31496671 |
0.41 |
0.43 |
0.39 |
0.48 |
hCV2552741 |
TTCTAAGGGTCCAGAGTAGCTGGATTGTAGCAGCTGAGAA[A/G]TGAGCTGGGAAGGGGCACTGGTCTGGGGAAAGTGAGGGGC |
A |
G |
C___2552720_10 |
rs16593 |
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31517738 |
|
|
0.32 |
0.43 |
hCV2552720 |
CTGAACAGTTCTCCATAATTGTTAATGTGAATCCTACCCA[C/T]GCACTAGTAGGTATCACCCTTGTTAAATGATACTGTGAAT |
T |
T |
C___2552703_10 |
|
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31527848 |
0.23 |
0.15 |
0.06 |
0.06 |
hCV2552703 |
GCTGCATGTGCAGGAATTCCTTGGGTGTCCCCCACTCAGT[A/G]CTGGCCACCCAACTCACTCTGACTCCAGGGAAGCCCTTCA |
A |
A |
C___3197300_10 |
|
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31545146 |
|
|
0.28 |
0.36 |
hCV3197300 |
TCCATTCAGAAAAGAGTGACATAGCTGCTTCACAACTGAA[A/G]TACTTTCATAGCTATTGCCAAATCTGATCCTCTCAACAGC |
G |
G |
C___2033368_10 |
|
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31556004 |
0.41 |
0.44 |
0.44 |
0.35 |
hCV2033368 |
CACTTCATTCTGTGAGTGCTCCAAGACAGGGGCCAGGTCT[C/T]GCTTATCTTAATTTTTCCAGCACATTCAGTGCTCAGGGAA |
T |
T |
C___3197289_10 |
|
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31558922 |
0.21 |
0.22 |
0.27 |
0.24 |
hCV3197289 |
TCTGCTGCTAATAACAATGTAGATAGCAAAGAGATGTCAA[C/T]ACAAGTAAGTAATTCATCATAGTAGGGGTAGGTACATTCA |
T |
T |
C___2033363_10 |
|
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31568352 |
0.26 |
0.46 |
0.13 |
0.14 |
hCV2033363 |
CCTGGACCATCCCCTGAAGGGCCGTGGTTGGCATTCTTGT[C/G]TTGGGTGGCTGATATCTTTCTGGTCTCTGCTGCTCATTTA |
C |
C |
C___2033362_10 |
|
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31570988 |
0.19 |
0.23 |
0.13 |
0.07 |
hCV2033362 |
CAGCATCTCTAGCTAAGGAGATCCGAAATCAGCACAAAGA[C/T]GGGCAAGCTCAGGCTTGATTGCTCACAGGTGATATTTTGA |
T |
T |
C___2033360_10 |
|
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31575282 |
0.33 |
0.27 |
0.41 |
0.38 |
hCV2033360 |
CTGTTTGTCTTTTTGTTTAACCTTTTCGGGAGATGTTCTC[C/A]GTTCCAATCCTTCTATGGATTAAAAAAAGTTTGCAATCAC |
C |
A |
C___2033349_10 |
|
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31591548 |
0.39 |
0.27 |
0.38 |
0.34 |
hCV2033349 |
TCCGCCTTACAGAGTTTGGGAAATGCAAAGTGGAGCCCTT[A/G]CTGAGAGGAGTTAGGAGTAGCTAATACCCATGAAGACACG |
A |
A |
C___7472129_10 |
rs1574322 |
|
amiloride-sensitive
cation channel 1, neuronal (degenerin) |
ACCN1 |
Intron |
17 |
31591768 |
|
|
0.02 |
0.08 |
hCV7472129 |
CTTCTAACCTATTCATTAATCCTGACCTTTAGGGCTTCTT[T/C]TGGGTGATGGGTTTCTCATCTCTTCTTGCTTATTACACGT |
T |
T |
C___7472169_10 |
rs1532454 |
|
|
|
|
17 |
31754243 |
|
|
0.07 |
0.07 |
hCV7472169 |
CTCAAGTCCTCATGACTGCAAATGTGCATGCTCTTTCTGT[G/A]GCTACATGAGGAAGGAATGCATTGGTGCGAGGCAGGGTGT |
A |
A |
C___1470422_10 |
|
|
|
|
|
17 |
31758044 |
0.43 |
0.45 |
0.26 |
0.3 |
hCV1470422 |
GGCTGAAAAACTCACGCCATCTGCACTATTTGAGCTCTCC[A/G]TTCCCCTGACTGCCCACTTGAATACAGAACTTTTCAGCTA |
A |
A |
C____127557_10 |
rs1497364 |
|
|
|
|
17 |
31772020 |
|
|
0.35 |
0.46 |
hCV127557 |
TTTACTCATTGCACATGGATATTCCTACACCCTTCCCTTC[C/T]TTCCACCATGGAACTGGCACTGGAGTTGTTGTTCCTTCCT |
T |
T |
C___7474340_10 |
rs1504575 |
|
|
|
|
17 |
31802354 |
|
|
0.37 |
0.36 |
hCV7474340 |
TTTTTCCTTCGCCTTCACAAGGGGGATTGTCATTATTGCC[G/A]TGAATGTTTGTGAGGATCAGAGACAATGAGTCTGTGGAAC |
G |
G |
C____292160_10 |
|
|
|
|
|
17 |
31808407 |
0.01 |
0.17 |
0.08 |
0.06 |
hCV292160 |
ATGTTAGTACTTGGGGCCACAAGGGTGAATAAGACTCAGT[C/T]CTTACACTCCAGGAGCCCAGAGTTCAGCCTTCCAGCTCCA |
T |
T |
C___7474499_10 |
rs725276 |
|
|
|
|
17 |
32018931 |
0.47 |
0.42 |
0.16 |
0.36 |
hCV7474499 |
AGGCCTATGCATTTCTCCTATCTCCATTTTACAGCAAAAG[A/T]TGCTGCAATCGAAGGTACAAGCAGGTGTTGAGAAAACATG |
A |
A |
C___7909875_10 |
rs727206 |
|
|
|
|
17 |
32063659 |
0.46 |
0.3 |
0.21 |
0.43 |
hCV7909875 |
CCTTTTAGCAGAGGATGGCAGTCACCCTCAGAGCCCAGAA[T/C]AGCAGAATATAACAGAAAACAGGAACAGAGGTGTTAGGAA |
A |
A |
C___1820634_10 |
|
|
|
|
|
17 |
32344351 |
0.27 |
0.31 |
0.27 |
0.27 |
hCV1820634 |
TGCCTGTCTGCCGCCAGCTCATCATCCAGAGACTGTTTAC[C/T]ATCACCTCCAGCCATACATAATTCATCAGCCTCCCTCTTT |
G |
G |
C____346340_10 |
rs929260 |
|
|
|
|
17 |
32604496 |
0.38 |
0.14 |
0.11 |
0.24 |
hCV346340 |
AAATGTCCCCGTCCCACTGCCCCAAGAGAGACCAGAGTTC[T/C]TAAATGTCCCTCAGAGAAGAATGGAGAAGCTAGACCCAAG |
A |
A |
C___2561079_1_ |
rs3744513 |
|
|
|
|
17 |
32620275 |
0.36 |
0.47 |
0.11 |
0.25 |
hCV2561079 |
TGAGTTAAAATATCTACCTTGACCAGCAAGGCCATTTGAC[C/T]CATGATCTATTACAACCTGAGACCAAGCCTACATCACCCC |
A |
A |
C____349490_10 |
rs1008285 |
|
|
|
|
17 |
32627271 |
|
|
0.19 |
0.29 |
hCV349490 |
AGTTGGGAAGGGGCTGACCTGTGATCCAGCACTTGTCTAG[G/A]GTCCTCTGCCTAATGAAGACATTGCTTACCTTTCCTGTGC |
T |
T |
C___7449810_10 |
rs13900 |
|
chemokine
(C-C motif) ligand 2 |
CCL2 |
UTR
3 |
17 |
32729461 |
0.19 |
0.14 |
0.47 |
0.37 |
hCV7449810 |
TCACATCAACAAACAAAATTCATTATAATAAAATAAAACA[A/G]GGTGTCTGGGGAAAGCTAGGGGAAAATAAGTTAGCTGCAG |
T |
C |
C___2590340_10 |
|
|
chemokine
(C-C motif) ligand 7 |
CCL7 |
|
17 |
32746466 |
|
|
0.22 |
0.09 |
hCV2590340 |
GCACATGTCCAGCAGCAAAGTCTAGGAGGTGGGAAAGTTC[A/C]AGCAAAAAACACTCCTTACGCCTAAGCCAGAGGTCACAGA |
T |
T |
C___2960228_1_ |
|
|
chemokine
(C-C motif) ligand 11 |
CCL11 |
Intron |
17 |
32758682 |
0.24 |
0.21 |
0.45 |
0.38 |
hCV2960228 |
GCCATTCCCCATTCCCAAACACTGTAAGGATAGCTGGGTA[A/T]GGATGCACCCAGCAACCCTCTTGAATGTGGGGAAAAGACT |
A |
A |
C___2590319_10 |
|
|
chemokine
(C-C motif) ligand 11 |
CCL11 |
|
17 |
32762431 |
0.45 |
0.31 |
0.38 |
0.28 |
hCV2590319 |
AACCCTCTGACAACATTCCCTCCCTCAATGGGTGGAGGTA[A/G]TGATGCTTTCCAAGAGGTAGTGCTCTCAGAACAGGAGATC |
T |
T |
C___2590318_10 |
rs1860181 |
|
chemokine
(C-C motif) ligand 11 |
CCL11 |
|
17 |
32763137 |
0.44 |
0.27 |
0.36 |
0.27 |
hCV2590318 |
ATGGGATTGCTGAGACCTGGGCTGCAATTGCACCACAATA[T/C]CAATTCTCCCTCTCCTTAGTTCAGCTTCCCCATACTCTCA |
G |
G |
C___2590317_10 |
|
|
chemokine
(C-C motif) ligand 11 |
CCL11 |
|
17 |
32763571 |
|
|
0.07 |
0.09 |
hCV2590317 |
TAAGCATCATTTATAACCTCAAGACCAGTTGCAGCTGTTG[G/T]AGGTGGCTACTGTTCACTCCACCAACCTTCCTCTTGCAAG |
A |
A |
C__25474128_10 |
|
|
chemokine
(C-C motif) ligand 8 |
CCL8 |
Intron |
17 |
32793094 |
0.14 |
0.02 |
0.29 |
0.3 |
hCV25474128 |
CCTAGAAGGGAATCCTAGAGCAGTTATGGACTCCTTCTCA[C/T]GGACTGAGTTTCTCTATGGGGTAGAGGGGCCCTTTGGATA |
G |
G |
C___1022803_1_ |
rs159313 |
|
chemokine
(C-C motif) ligand 1|chemokine (C-C motif) ligand 13 |
CCL1|CCL13 |
Intron |
17 |
32829939 |
0.33 |
0.22 |
0.47 |
0.37 |
hCV1022803 |
CAGGGAGCATCTGTATGGGATGCAAAGCAAAGAGGAAGAA[G/A]TAGATCTTACTCACCCCCAAGCCCAGCACTCCCACCCTAG |
C |
T |
C___3211830_1_ |
rs2282691 |
IMS-JST031917 |
chemokine
(C-C motif) ligand 1|chemokine (C-C motif) ligand 13 |
CCL1|CCL13 |
Intron |
17 |
32833859 |
0.23 |
0.44 |
0.3 |
0.48 |
hCV3211830 |
TCACAGGGTCTTTACAAACTTAATTGGAGTAGCTTTCACA[A/T]ACCAGTCAGTATTTTAAGGCTTTTTCATGTATATTCTCTC |
T |
T |
C___3211891_1_ |
rs150509 |
|
|
|
|
17 |
32885192 |
|
|
0.33 |
0.3 |
hCV3211891 |
GGCCTGGGAGGGAGAATGAGACAGACGTAACGGATGCCGT[A/G]GCTTTCCTTTTGGTATTTATTTTTATTACATTGCAATGCA |
T |
T |
C__11936434_10 |
rs1978687 |
|
|
|
|
17 |
32905690 |
0.33 |
0.11 |
0.43 |
0.47 |
hCV11936434 |
GTCTGAGAACCACGGGGCTGTACTTTGTCAGTTATCATTT[A/G]TATCAACTCCTTTCCCAATCTTGGGACTTTTTTTTTTTGT |
C |
C |
C___3211944_10 |
rs210825 |
|
|
|
|
17 |
32921511 |
0.14 |
0.38 |
0.11 |
0.15 |
hCV3211944 |
GACTTGGCTGATCCTGAGAGCTCATTGCTAATGCACCATG[G/A]AACTCAGATTAAACTAGTAGCGCCCAGCAGCCCTGGGGAA |
T |
T |
C___7563342_10 |
rs1550196 |
|
|
|
|
17 |
32932505 |
0.11 |
0.21 |
0.49 |
0.48 |
hCV7563342 |
CCCTGCAAAGTTGGAATGATGATGTTGAAGCTAATGTCAA[T/C]AACATAATGCCTGTAAACACCTTTTTTTCCCCCATATATG |
G |
G |
C__11936360_10 |
rs1897355 |
|
|
|
|
17 |
32944473 |
0.06 |
0.2 |
0.38 |
0.34 |
hCV11936360 |
TGTAAATGAAGATACTCCCGAGAGAGAAGCAAAGACTCAC[T/A]TCAAAGTCTTAAAAGCACTTAATGTTGTCCCAGTAAGCTA |
A |
A |
C___7563256_10 |
rs917502 |
|
|
|
|
17 |
32969283 |
0.42 |
0.43 |
0.09 |
0.18 |
hCV7563256 |
GAATGCTTAATGGAGTCTAGAGACAGAGGAAGGAGGATTT[C/T]ATCTCAAAGCAGGAACCAGCATTTGCACTTCTTTTCCTGT |
A |
A |
C___3225299_10 |
rs1437214 |
|
|
|
|
17 |
32973854 |
0.02 |
0.09 |
0.34 |
0.47 |
hCV3225299 |
CCTGCTGCTGCAGGGGAGTCTGTTAGAGAGGCTGGGCTGT[T/C]AATTTCATTCAGTAGTGACTTTTGAGGAAAGGATGCCCTG |
A |
A |
C___2593047_10 |
rs887231 |
|
|
|
|
17 |
33050030 |
0.31 |
0.33 |
0.49 |
0.47 |
hCV2593047 |
AATTGCTTGCAATTGTGGTGTGATTTGGCATCATGCACTT[T/C]GCTCATCTTATGGAGAAGACTGAGGCCTGTGGTTGGAAAG |
G |
G |
C____359032_10 |
|
|
|
|
|
17 |
33058680 |
0.18 |
0.29 |
0.37 |
0.29 |
hCV359032 |
GGGGAGAGAGGCGTGTGCTTGGGGAGAGAGGCGTGTGCTC[G/T]GACAGAGAAAGATGAGGGAGGTAAGAAGGGGCTTCTTCAT |
A |
A |
C____342882_10 |
|
|
|
|
|
17 |
33073416 |
0.49 |
0.34 |
0.32 |
0.31 |
hCV342882 |
TCCATGACCTCATGGCCTCTGTCTCACAGCTCTGCCTCTG[G/C]AGGTGCATCCATCACTTTCCTGCTTGAAACCTTTGACCTG |
G |
G |
C____325548_1_ |
rs998637 |
IMS-JST058492 |
|
|
|
17 |
33111615 |
0.46 |
0.43 |
0.06 |
0.08 |
hCV325548 |
TGCCCTGTGCTGCAGAGGGAAGTCGCAGTCAGCAGGGTGA[C/G]GGGTGGCTAAGGCGTAGTAGTGTTGACCTTGCTGTGGGGG |
G |
G |
C___2274308_10 |
rs714895 |
|
|
|
|
17 |
33249643 |
0.19 |
0.06 |
0.24 |
0.27 |
hCV2274308 |
TGAGCAGAGAGAGGCAGGGTCACGAAACTTGACCTGAAAC[A/G]CACAGCCACATCAATATCAGTTGAGGCGGCTGTTTGTTTC |
T |
T |
C____913676_10 |
|
|
|
|
|
17 |
33287822 |
0.31 |
0.16 |
0.17 |
0.13 |
hCV913676 |
CTTGGCATCCTCATTGGGGTCCTGACCCCAATCTGCTTCT[G/C]ATATACTGATGGGAATTTCCCTCCAACGTAGCAGTGACCT |
C |
C |
C___7447761_10 |
rs1482103 |
|
chaperonin
containing TCP1, subunit 6B (zeta 2)|hypothetical protein MGC20398 |
CCT6B|MGC20398 |
Intron |
17 |
33433201 |
0.49 |
0.33 |
0.18 |
0.22 |
hCV7447761 |
ATAATATTAATGGTAAAATAAGTCACTTAGGTACCAGTTG[C/T]TGGGACACAGAAATGATCAAGATAACGGTTTCTGTTCTTA |
A |
A |
C__11936922_10 |
rs1871866 |
|
chaperonin
containing TCP1, subunit 6B (zeta 2)|hypothetical protein MGC20398 |
CCT6B|MGC20398 |
|
17 |
33441799 |
0.19 |
0.08 |
0.37 |
0.36 |
hCV11936922 |
GTGGTCCTCCTCATTCCCCTAAAGATGACTCTTGGCTTCC[C/T]AGTGTGCTTGAAGCTCAACAAATGCTGCTAGCAAAATGGA |
G |
G |
C___3094404_10 |
rs978202 |
|
ligase
III, DNA, ATP-dependent |
LIG3 |
|
17 |
33446765 |
|
|
0.28 |
0.18 |
hCV3094404 |
AATAGCTGTAGAAAGATATAATAATTCAAATCAGCTCATC[G/A]TTCTTCATTCTCAATAAAGGCTGCGGAGGTTGGTTCTTAA |
T |
T |
C___1869122_10 |
|
|
ligase
III, DNA, ATP-dependent |
LIG3 |
Intron |
17 |
33459279 |
0.4 |
0.26 |
0.25 |
0.11 |
hCV1869122 |
AAGACAGGTTCTAATAATCTCTGTCTGGCCCAGGTAACTA[C/T]TTCAAGGGGAAAAAGTCTTGACAAAACAAATCTTTCCGCT |
G |
G |
C__11936917_20 |
rs2066505 |
|
RAD51-like
3 (S. cerevisiae)|fring|ligase III, DNA, ATP-dependent |
RAD51L3|LOC117584|LIG3 |
Intron |
17 |
33472330 |
|
|
0.24 |
0.16 |
hCV11936917 |
CTGGGTATTTTGCTGGGGTCCTAGAGGAGAAAAGATGCTA[C/T]TTTGGGCTGTTCCCAACCTGGAACAAGGCTTAAATCCCTT |
A |
A |
C___2557692_1_ |
rs1052536 |
IMS-JST001421 |
RAD51-like
3 (S. cerevisiae)|fring|ligase III, DNA, ATP-dependent |
RAD51L3|LOC117584|LIG3 |
UTR
3 |
17 |
33477125 |
0.4 |
0.24 |
0.26 |
0.13 |
hCV2557692 |
CTATACTGTGTCTATCTGCCTCCAGCCTGAGTCCAGTCCA[G/A]TAGTATGGTAAAGGAGAGTATGGCCTGAGGGAGAGGGAAG |
T |
T |
C___2557690_10 |
rs1003918 |
|
RAD51-like
3 (S. cerevisiae)|fring|ligase III, DNA, ATP-dependent |
RAD51L3|LOC117584|LIG3 |
|
17 |
33477727 |
0.4 |
0.29 |
0.25 |
0.14 |
hCV2557690 |
GAGCCCTCTATCCCTCCAGAGGAGTGGCCCAAATAACCTC[T/C]CCTTTCTTCATAAAGGCCCCATTTTCCTACCTGACCCTAG |
A |
A |
C___2557686_1_ |
rs3744358 |
|
RAD51-like
3 (S. cerevisiae)|fring|ligase III, DNA, ATP-dependent |
RAD51L3|LOC117584|LIG3 |
|
17 |
33482464 |
0.22 |
0.22 |
0.16 |
0.01 |
hCV2557686 |
CTATAGTTTACAATGCCTACCAATTAGCAAAGGATCATTC[A/C]TTCAGCTACTCAGTTCCTCTGTAAAACAGGTCTATGTATG |
G |
G |
C___2557682_1_ |
rs2074520 |
IMS-JST001420 |
RAD51-like
3 (S. cerevisiae)|fring|ligase III, DNA, ATP-dependent |
RAD51L3|LOC117584|LIG3 |
Intron |
17 |
33484833 |
0.13 |
0.47 |
0.23 |
0.19 |
hCV2557682 |
CTCGGAGGAGCTCTATTTGAGGGAAGCATGTGCACTGAGA[C/G]TTTGTTTACAATGTACCTGTTATCTCCCACCTCCCTCCCC |
C |
C |
C__16164355_10 |
rs2074519 |
|
RAD51-like
3 (S. cerevisiae)|fring|ligase III, DNA, ATP-dependent |
RAD51L3|LOC117584|LIG3 |
Intron |
17 |
33487384 |
|
|
0.48 |
0.3 |
hCV16164355 |
|
#N/A |
#N/A |
C___2557643_10 |
|
|
RAD51-like
3 (S. cerevisiae)|fring |
RAD51L3|LOC117584 |
Intron |
17 |
33538237 |
0.13 |
0.41 |
0.23 |
0.17 |
hCV2557643 |
CAGCTCTGTTCACTTGCTCAATGGTGTTTCTCTTAGTCAA[C/G]TTAGGAGTTCCATGCCTTTGGCCTTCAGGCTGCTCTTTAT |
C |
C |
C__11881784_10 |
|
|
RAD51-like
3 (S. cerevisiae)|fring |
RAD51L3|LOC117584 |
UTR
3 |
17 |
33573156 |
|
|
0.13 |
0.12 |
hCV11881784 |
AATCCTGTGCATCACCATTGTGTCCTGTGCTCCCTCCTAG[C/T]GCAGTGGCCAAGCCGGGAAAGCCTCTAACTTGCCTTTGCT |
A |
A |
C___1123599_10 |
rs936656 |
|
RAD51-like
3 (S. cerevisiae)|fring |
RAD51L3|LOC117584 |
Intron |
17 |
33579370 |
0.48 |
0.41 |
0.43 |
0.45 |
hCV1123599 |
CCTGTTGATGCCATCATCCCATTTGGGATGCTACTCACAC[T/C]GATTCTTCCAGGAAACCCTCCCAACTCTTTGCATGCCCTA |
A |
A |
C___7449693_10 |
rs1482266 |
|
cardiomyopathy
associated 4 |
CMYA4 |
Intron |
17 |
33635439 |
0.2 |
0.34 |
0.1 |
0.12 |
hCV7449693 |
TGGAGCTGGTCAGACCTTGTGTAGTACAGGGAAGTGGGAG[A/G]AAGAACATTCCAGGTAAAAGCTGGGAGGCATGAAACTCTA |
T |
T |
C___1161992_10 |
|
|
cardiomyopathy
associated 4 |
CMYA4 |
Intron |
17 |
33648487 |
0.49 |
0.34 |
0.26 |
0.23 |
hCV1161992 |
CGAGAAGAAAGGAGAACAGTTAATACACCAGCACACCTTC[C/T]CAGGCAGCAGCAGCAGCAGGCCAGCCAGTCGGAGCCAGTG |
A |
A |
C___1161996_10 |
|
|
cardiomyopathy
associated 4 |
CMYA4 |
Intron |
17 |
33650015 |
0.12 |
0.09 |
0.2 |
0.19 |
hCV1161996 |
GAGGGGTCAAGGGTTTGGTCAGGTGAGGACTTTGTTCCCT[A/G]AGTGCCTCACATTTATAGGTGACCAGCTGTAAAGTTTCCA |
T |
T |
C___7449691_10 |
rs964725 |
|
cardiomyopathy
associated 4|hypothetical protein FLJ40154 |
CMYA4|FLJ40154 |
Intron |
17 |
33657087 |
0.03 |
0.3 |
0.24 |
0.28 |
hCV7449691 |
GCACTCAGTAAGTGCAAGGAGTCACAGAGGGTCCTGTGAG[A/G]ACCTGCAACAAGAGTTATGTGACCAGTGACACCAGCAGAG |
T |
T |
C___1162000_1_ |
rs3744366 |
|
cardiomyopathy
associated 4|hypothetical protein FLJ40154 |
CMYA4|FLJ40154 |
|
17 |
33659199 |
0.4 |
0.42 |
0.5 |
0.49 |
hCV1162000 |
CTTCATTGTCACTGCTATGATCCCTAGATGACCTGACTCT[C/T]CAGGAGAACCCAACCAACCCAGGACTCTGCACAGTACAGG |
A |
A |
C____130664_10 |
rs1000457 |
|
hypothetical
protein FLJ34922 |
FLJ34922 |
|
17 |
33818978 |
0.42 |
0.11 |
0.41 |
0.42 |
hCV130664 |
ACGCCCGACGCTTCCATTGTAGTGGGGCTTCACTTGCCAA[G/A]GTGGAAGTGGTAGCGCCGGTGGTGGTACACTTTTTCGTAC |
T |
T |
C____271246_10 |
|
|
hypothetical
protein FLJ10260 |
FLJ10260 |
|
17 |
33877055 |
0.05 |
0.3 |
0.13 |
0.17 |
hCV271246 |
AAATCACTGTGTGTAATGAGAGATACTGAGAGTTTCTCAC[A/G]CATATGAGTACAAAGGGTTGAGAACTATATTATACAAAGT |
T |
T |
C___9263548_10 |
|
|
peroxisomal
biogenesis factor 12 |
PEX12 |
|
17 |
34036936 |
|
|
0.32 |
0.47 |
hCV9263548 |
CTACCCTGTAGAAGAAGAAGAAGAAAACAGCAATCTAGTT[C/T]CTAGTTCTCCTGACCAAATGATGTTATTCCTCTTGATTGG |
G |
G |
C___2264220_10 |
|
|
adaptor-related
protein complex 2, beta 1 subunit |
AP2B1 |
Intron |
17 |
34065586 |
|
|
0.33 |
0.45 |
hCV2264220 |
|
#N/A |
#N/A |
C___2264207_10 |
rs225284 |
|
adaptor-related
protein complex 2, beta 1 subunit |
AP2B1 |
Intron |
17 |
34078556 |
0.47 |
0.44 |
0.48 |
0.46 |
hCV2264207 |
CAAGCCCCACTAACAGAAAGCTCAGCACATGGTTTGAATT[T/G]CCCTGGATGACACACACTGGTATACAGAATGCTTAAAACA |
#N/A |
#N/A |
C___2560056_10 |
rs225259 |
|
adaptor-related
protein complex 2, beta 1 subunit |
AP2B1 |
Intron |
17 |
34103718 |
0.33 |
0.37 |
0.32 |
0.46 |
hCV2560056 |
|
#N/A |
#N/A |
C___3143173_10 |
|
|
TAF15
RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa |
TAF15 |
Intron |
17 |
34287912 |
0.13 |
0.2 |
0.27 |
0.34 |
hCV3143173 |
CTTGGTATAAATCCTTGAGTGATAAAGTGCAGGTGTTTTA[C/T]ATTCATCAGAGAAAATCAGTTTATAGATTAAGGCATCCTA |
A |
A |
C___1956771_10 |
|
|
TAF15
RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa |
TAF15 |
Intron |
17 |
34289195 |
0.18 |
0.48 |
0.31 |
0.37 |
hCV1956771 |
GAGTCAAATGAATGACCAAGTATGTGACGCATAAGAGCAG[T/A]TTTTATGAAACGCTTTTGCAACTGCAAAAAATGGCTCTAA |
A |
A |
C___2957192_10 |
rs3817655 |
|
chemokine
(C-C motif) ligand 5|hypothetical protein FLJ32830 |
CCL5|FLJ32830 |
Intron |
17 |
34345191 |
0.12 |
0.43 |
0.3 |
0.34 |
hCV2957192 |
ACAAATTTGTTTCTGGCTTGGAGCCCTTTGATCCAACAGA[T/A]GAGGAAATGTTCTCTCCTTAAAAGCCACAAATAAAATCTT |
T |
T |
C__15874407_10 |
rs2107538 |
IMS-JST029138 |
chemokine
(C-C motif) ligand 5 |
CCL5 |
|
17 |
34353330 |
0.18 |
0.47 |
0.3 |
0.35 |
hCV15874407 |
ACTTTATAAATAACATCCTTCCATGGATGAGGGAAAGGAG[G/A]TAAGATCTGTAATGAATAAGCAGGAACTTTGAAGACTCAG |
T |
T |
C___3275848_10 |
|
|
|
|
|
17 |
34379192 |
0.1 |
0.24 |
0.19 |
0.19 |
hCV3275848 |
GAAGAGACTGGACCTTTACCAGTTCAACAGGAGACTTCAG[C/T]TGAATCTCCAGAACCTACTAAAGATGAGAACCCCTCTCCA |
A |
A |
C__16285467_10 |
rs2242597 |
IMS-JST014900 |
RAD52
homolog B (S. cerevisiae) |
RAD52B |
Intron |
17 |
34391179 |
0.01 |
0.28 |
0.09 |
0.15 |
hCV16285467 |
GTTCAAACTTCTCTCCCAGACTGAATTGCCCACCTCCCAA[C/A]ACCCCTCCTACAGAAAATTTGGAGTCTTCACTTATTCCCT |
G |
G |
C___3275823_10 |
|
|
RAD52
homolog B (S. cerevisiae) |
RAD52B |
Intron |
17 |
34397002 |
0.17 |
0.16 |
0.19 |
0.2 |
hCV3275823 |
GAGCTACTGAAGTCCTGGGCAGAGTTTTTCTGTCTTACAA[T/C]ATAGGGTTTTACTGTAGGCAATACCTGATTGAACCTTTAA |
A |
A |
C___2953429_10 |
rs1052266 |
|
RAD52
homolog B (S. cerevisiae)|lysozyme homolog |
RAD52B|LOC57151 |
Silent
Mutation |
17 |
34410412 |
0.1 |
0 |
0.23 |
0.12 |
hCV2953429 |
TGGAAAGCAAGTTCAACATATCAAAGATAAATGAAAATGC[A/G]GATGGAAGCTTTGACTATGGCCTCTTCCAGATCAACAGCC |
C |
C |
C___3275806_10 |
|
|
lysozyme
homolog |
LOC57151 |
|
17 |
34417048 |
0.1 |
0.17 |
0.28 |
0.22 |
hCV3275806 |
GGCAGCACTGCCCACTTAGAAGCCCCTTGTCCTATTTTTC[G/T]GTCAGATCCTGCCTCCCTGTTTCAGAGGGAAGAGTGGGCC |
C |
C |
C___3275776_10 |
rs2687506 |
|
chemokine
(C-C motif) ligand 16 |
CCL16 |
|
17 |
34445577 |
0.24 |
0.32 |
0.32 |
0.22 |
hCV3275776 |
GGAACAGGAAGGGAAGAAAATGAGAGAACAACTCTGGATA[G/C]TACAAAGAGCATTTTACTGGGAGTCACAGAGGACGGCTCG |
C |
C |
C___3275772_10 |
rs1635278 |
|
chemokine
(C-C motif) ligand 14|chemokine (C-C motif) ligand 16|chemokine (C-C motif)
ligand 15 |
CCL14|CCL16|CCL15 |
|
17 |
34447761 |
|
|
0.31 |
0.21 |
hCV3275772 |
AAGGGCCATGGTGGCAATTTAGCACCTCAGGAATAACTTA[C/T]TGGTTTAGGTCAGTTCTTGGTGGGGGATGATGGACGTATG |
G |
G |
C___7449259_10 |
rs854680 |
|
chemokine
(C-C motif) ligand 14|chemokine (C-C motif) ligand 16|chemokine (C-C motif)
ligand 15 |
CCL14|CCL16|CCL15 |
|
17 |
34454601 |
|
|
0.44 |
0.24 |
hCV7449259 |
TGTTTTTTTTTTTTTTGGAGTATTAGCATACACTGTGACA[T/G]GAAAGAGTGTGAGCTCAATCATGTGGCCTTGGACTGGGAG |
T |
T |
C___7449257_10 |
rs854683 |
|
chemokine
(C-C motif) ligand 14|chemokine (C-C motif) ligand 16|chemokine (C-C motif)
ligand 15 |
CCL14|CCL16|CCL15 |
IntronIntron |
17 |
34459557 |
0.19 |
0.2 |
0.49 |
0.41 |
hCV7449257 |
ACAGGACACATCCAGCCTTGAGATCTTTTGCTAAGTGTGA[G/C]ACAGTGCCCCCAGCCCTGTGCTCATGTTCATGCCTAGGGA |
G |
C |
C__25473479_10 |
|
|
chemokine
(C-C motif) ligand 14|chemokine (C-C motif) ligand 15 |
CCL14|CCL15 |
IntronIntron |
17 |
34470167 |
|
|
0.43 |
0.27 |
hCV25473479 |
GCTTGAGTTTTAAGAGGAAATAAACTAATATAAAACTGAA[G/A]CAACTGCTGAGCCCCAACATGATTAAATACAAATTCACCT |
T |
T |
C___2603859_10 |
|
|
chemokine
(C-C motif) ligand 23 |
CCL23 |
Mis-sense
Mutation |
17 |
34485834 |
|
|
0.43 |
0.42 |
hCV2603859 |
TTTCTGTGCCAACCCCAGTGATAAGCAAGTTCAGGTTTGC[A/G]TGAGAATGCTGAAGCTGGACACACGGATCAAGACCAGGAA |
C |
C |
C___2603857_1_ |
rs854655 |
IMS-JST008764 |
chemokine
(C-C motif) ligand 23 |
CCL23 |
|
17 |
34490773 |
0.21 |
0.22 |
0.41 |
0.4 |
hCV2603857 |
CTCCACTGTTTAGAGGATGAATGAATCTCCCAGAGGGAAG[G/T]ATCCATCATAAAGTATTTGCTCTCTCTGCCTGTACTTATT |
C |
C |
C___2603842_10 |
rs854660 |
|
chemokine
(C-C motif) ligand 23 |
CCL23 |
|
17 |
34500353 |
0.44 |
0.22 |
0.33 |
0.44 |
hCV2603842 |
TGGGGAGGTAGGTGCACATCTATTGCAAAGGAGGAGGTAC[C/T]GTGATGGGCAAGAGCCTCACAGAACCTAATAGCTACATGG |
G |
G |
C___2603841_10 |
rs854661 |
|
chemokine
(C-C motif) ligand 23 |
CCL23 |
|
17 |
34500433 |
0.44 |
0.23 |
0.34 |
0.41 |
hCV2603841 |
ACCTCCACTTCCTGAAGGAGCTGCTGCTTTTCTGTCATTA[G/A]AATCTGAAAAATCCCTGGGAAGGACCCCAGTTGTCTGACT |
T |
T |
C___2555168_1_ |
|
|
chemokine
(C-C motif) ligand 18 (pulmonary and activation-regulated) |
CCL18 |
|
17 |
34537167 |
0.21 |
0.38 |
0.24 |
0.11 |
hCV2555168 |
AAACTCACAACTCCTGGCCTCCTTCTGGGGTATGAGCTGT[C/T]GTCTCTCCTTTTTATAGGCAGACTGGACCATGGGAACATT |
G |
G |
C___7449055_1_ |
|
|
chemokine
(C-C motif) ligand 18 (pulmonary and activation-regulated) |
CCL18 |
Intron |
17 |
34537333 |
0.13 |
0.03 |
0.09 |
0.11 |
hCV7449055 |
TGTCGCCTGACTTCTGCCCAGGGAGCCATCAAAGCACATG[G/A]ATGACAGACTCACCTTGTGCACAGGAGCAGAGGGCCATGG |
T |
T |
C___2262137_10 |
rs712043 |
|
chemokine
(C-C motif) ligand 18 (pulmonary and activation-regulated) |
CCL18 |
Intron |
17 |
34542217 |
0.28 |
0.06 |
0.23 |
0.37 |
hCV2262137 |
TTCAGTTGATCCCTTGGTGGGGAAATGGTTTCCACAGTGA[A/G]AGGAGGTGAGATGCTGGTGTCACCCTGAGACTGGGTTAGC |
T |
T |
C___7449039_10 |
rs854472 |
|
chemokine
(C-C motif) ligand 18 (pulmonary and activation-regulated) |
CCL18 |
Intron |
17 |
34543158 |
|
|
0.24 |
0.37 |
hCV7449039 |
CTTTTCCCTGACATTTTAATTTCTGCATCTTTCTCTTGGT[G/A]TTTCTCATTCTCTGGCTGTCTTGGTTCTGGGTCTCTATGT |
C |
C |
C___2555183_10 |
rs1634481 |
|
chemokine
(C-C motif) ligand 18 (pulmonary and activation-regulated)|chemokine (C-C
motif) ligand 3 |
CCL18|CCL3 |
|
17 |
34551225 |
0.27 |
0.1 |
0.28 |
0.36 |
hCV2555183 |
TTGAGAAGCTGGGGCCTTGCACTAAAAACTGGTTCTCTCT[T/C]AGTCCTCTTGAACCACTTGCTCTGGGTCCCTCATTGAGGG |
G |
G |
C___7448621_10 |
rs868340 |
|
thyroid
hormone receptor interactor 3 |
TRIP3 |
|
17 |
35028170 |
0.38 |
0.14 |
0.33 |
0.27 |
hCV7448621 |
AACATAGCTGCCTGGATCTGGCTAGTGTTAACTCATCAGA[T/A]GCTTTGTGTGAGGGACCCCTAAGTTCTTTATTTCAGGCAG |
A |
A |
C___1122658_20 |
rs2306590 |
IMS-JST064250 |
thyroid
hormone receptor interactor 3|myosin head domain containing 1|hypothetical
protein FLJ22865 |
TRIP3|MYOHD1|FLJ22865 |
Mis-sense
Mutation |
17 |
35049830 |
0.35 |
0.13 |
0.11 |
0.18 |
hCV1122658 |
CCCATAGCCGTATTGGCCAGGACCAGTCCCAGGGGCCAGA[A/G]GCGGATTATTGCCTCCAGGAGCCTGGTCTGCAGCGGCGAG |
C |
C |
C____553720_1_ |
rs752493 |
IMS-JST064257 |
myosin
head domain containing 1|hypothetical protein FLJ22865 |
MYOHD1|FLJ22865 |
Silent
Mutation |
17 |
35067363 |
0.06 |
0.15 |
0.06 |
0 |
hCV553720 |
AAGATGCAGGTGAGGTGGCCACCACAGCATAGAACTTCAT[C/T]AGGCAGCGAGACGTCCATGTCTGTGGCAGAAACAGCCCTG |
G |
G |
C___1163224_10 |
|
|
myosin
head domain containing 1|hypothetical protein FLJ22865 |
MYOHD1|FLJ22865 |
Intron |
17 |
35077736 |
0 |
0.08 |
0.08 |
0.02 |
hCV1163224 |
CTTCACAAACAACCCTGGCTTTCTCGTCTTCCTGCTCTCA[T/C]CTACTCCCTCTTGCCCCCAAGACCTCCCTCCTGCCAGCAA |
G |
G |
C___1122652_10 |
|
|
C3HC4-type
zinc finger protein|myosin head domain containing 1|phosphatidylinositol
glycan, class W|hypothetical protein FLJ22865|hypothetical protein FLJ37433 |
LZK1|MYOHD1|PIGW|FLJ22865|FLJ37433 |
|
17 |
35095670 |
0.41 |
0.34 |
0.39 |
0.27 |
hCV1122652 |
GGTTTTCTATTTCCTTCCAGTGTAACGACAACCACAAGCT[A/G]TCAGCACTTCACTATTTGCTGTCCCCTCAGCGGGATCGGG |
C |
C |
C___2548220_10 |
|
|
C3HC4-type
zinc finger protein |
LZK1 |
Intron |
17 |
35120088 |
0.41 |
0.34 |
0.39 |
0.26 |
hCV2548220 |
ATTATCAGGACCCCAAAAGAGAGTTGATATTCATGTGTTT[C/T]GTTACTATAAAAGTAACTTCAGATTTTTCTTTATAGAACA |
G |
G |
C___2548215_1_ |
rs2074103 |
IMS-JST000822 |
C3HC4-type
zinc finger protein |
LZK1 |
Intron |
17 |
35131428 |
0.42 |
0.35 |
0.4 |
0.27 |
hCV2548215 |
AAGAGTTTTGAGGTAAGAACAGTGGGCTGTTCCAGTATCT[C/A]AGATTGCTTAGTCACGTTATTGGACTGAATCTTAATGTAA |
T |
T |
C___2548184_10 |
|
|
hypothetical
protein FLJ22578 |
FLJ22578 |
|
17 |
35165452 |
|
|
0.43 |
0.32 |
hCV2548184 |
GCTCCACTGCAGAGCCGCTCAGCCACTCCCTCCTGGGGTT[G/T]TGAGGCAGGGGTCTTCCCTGCAACCTCTCCCCACTTCTTC |
C |
C |
C___9262310_1_ |
rs2304989 |
IMS-JST062133 |
|
|
|
17 |
35237172 |
0.33 |
0.07 |
0.38 |
0.34 |
hCV9262310 |
TTTGCGTATTGGATTTTCTTAAAGTGGAATGCGTTCGGTA[G/C]CTTTCTTTTTAGCAAGTGTTTTACTTTTTCACAAGAGATG |
C |
C |
C___9262488_10 |
rs2011675 |
|
|
|
|
17 |
35275722 |
0.47 |
0.48 |
0.22 |
0.29 |
hCV9262488 |
CATCTGTCTGTGGCTCTCGTTCTGAGCACCTGTGTGTCTC[C/T]GCTTCTGCCTTGTTCTGTCTTGGCACCTCTGGGTGTCTGT |
G |
G |
C___9262524_10 |
rs1373141 |
|
|
|
|
17 |
35277846 |
0.49 |
0.48 |
0.22 |
0.3 |
hCV9262524 |
GTCTGCTTAACCACATGGGGGAATATTGGAGTTGAGGGTG[A/T]GGAAGGGTGCGTGTCTCAGTGGGGCTTGAAATTGGGACTG |
T |
T |
C___3145388_1_ |
rs3744591 |
|
|
|
|
17 |
35459887 |
0.27 |
0.22 |
0.43 |
0.45 |
hCV3145388 |
CATTTATTGAGCAGTTCCAGGTTTCCAGGGATAGATGAAT[A/T]ATTCACTATTGAGTAGGGGAGACAGACAAATCACCAATAA |
A |
T |
C__11614223_10 |
|
|
LIM
homeobox 1|apoptosis antagonizing transcription factor |
LHX1|AATF |
Intron |
17 |
35492748 |
0.02 |
0.22 |
0.16 |
0.13 |
hCV11614223 |
TATAGAGTTCTAATTGTAATTCGACTTTTCTGAATCTAAT[C/A]GGAAAATAAGTGCCCCGTTCCCCCCGCCCACACAGGTCAC |
T |
T |
C___7450281_10 |
|
|
LIM
homeobox 1|apoptosis antagonizing transcription factor |
LHX1|AATF |
|
17 |
35501340 |
0.08 |
0.33 |
0.16 |
0.15 |
hCV7450281 |
TAAGAAAGACGCCAGCAGTCCGCCACACACTTACACGTGC[G/A]TATCCCTGACATAGGATTCCCAAATCCTGGCCGCTGAAGG |
T |
T |
C___7447875_10 |
rs1564796 |
|
apoptosis
antagonizing transcription factor |
AATF |
Intron |
17 |
35526386 |
0.31 |
0.07 |
0.02 |
0.07 |
hCV7447875 |
TGTCACAGCTTAAAGCAATGAAGGCAGGAGAAATATGGAG[G/A]TGAATTTGTTATAGAACAGAAGGCTTAGAGCACAAGAAGT |
C |
C |
C___1960437_10 |
|
|
apoptosis
antagonizing transcription factor |
AATF |
Intron |
17 |
35544099 |
0.21 |
0.26 |
0.16 |
0.22 |
hCV1960437 |
GAATGGGCCGTGGAGCTGGAGGGCTGGGATCCCAGAGTTC[C/T]TGAATTGCGCTACTGATCCTATTATCTGTTAAATCTTGTT |
A |
A |
C___3145429_10 |
|
|
apoptosis
antagonizing transcription factor |
AATF |
Intron |
17 |
35558522 |
0.17 |
0.41 |
0.15 |
0.21 |
hCV3145429 |
CTGCTAAATAATGCTAAAAAATAGTAACTGAGCTGGTATC[C/T]GAGAGGATCTAAAACCCTTCTTCCTGCCTTTATTATAAAT |
G |
G |
C___3145434_1_ |
rs873950 |
IMS-JST057829 |
apoptosis
antagonizing transcription factor |
AATF |
Intron |
17 |
35573478 |
0.17 |
0.38 |
0.16 |
0.22 |
hCV3145434 |
GAACATGCTGCATAGCTAAAACATTAAAAGAAAACCCAAG[T/C]AGCTCTACTAAATCTGATGGGTTTGCCTGCAGACTGGTAG |
G |
G |
C__11621375_10 |
|
|
apoptosis
antagonizing transcription factor |
AATF |
Intron |
17 |
35591836 |
0.18 |
0.39 |
0.16 |
0.22 |
hCV11621375 |
TGCCCTGGTATAATAGAAATTGTACAGGCAATTTATCTTC[A/G]GCTTGCCATTTTTGTGTATGGGTCTGCACCCTAAATATGG |
C |
C |
C___3145462_10 |
|
|
apoptosis
antagonizing transcription factor |
AATF |
Intron |
17 |
35603985 |
0.23 |
0.29 |
0.17 |
0.21 |
hCV3145462 |
AGCAGCATTGTCTCCGCCAGCTCCTTTGGAAGACTGGCAC[G/A]TAATACTTGCTCGGAGACCATGATGCGCTTTGGGAGGCTG |
C |
C |
C___3145470_10 |
|
|
apoptosis
antagonizing transcription factor |
AATF |
|
17 |
35619030 |
0.2 |
0.02 |
0.12 |
0.1 |
hCV3145470 |
CTTTGTTCCCGGGAGTGCTCGGGCCGCAGGTGTGTGTGTC[C/T]GGGAGGCTCCTGCCGGGCAGGGCAGGGAGAGGGGCCTGGC |
A |
A |
C___3145479_10 |
rs1266180 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35642818 |
0.47 |
0.21 |
0.15 |
0.25 |
hCV3145479 |
ACTTAGCTGCCGACTTAGTTGTGACTGGTTATTTAATGTA[C/T]GTCATTTCATCGACGTCTCTGTTTCTAAAAATTAACTCCT |
A |
A |
C___2958374_1_ |
rs1900101 |
IMS-JST024119 |
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35650827 |
0.17 |
0.42 |
0.32 |
0.33 |
hCV2958374 |
CTGACACCACCCAGGCTCCTCCTTCCCCTGAGGCCAGTAC[T/G]TGTACACTGACACCATGCCCATCCCTGCTGACCAGCATCA |
C |
C |
C___2544039_10 |
|
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35655960 |
0.19 |
0.28 |
0.31 |
0.33 |
hCV2544039 |
GGTTTTCTTTCTTTTCTAGCCAGATTGCAGGGCCTCAGGG[T/A]TTTTAGGAAAGCAAGTTGGTGTGTACACGTGTGTGAGTGT |
A |
A |
C____472271_10 |
|
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35671463 |
0.19 |
0.39 |
0.31 |
0.32 |
hCV472271 |
CTAGAAGTGGCACATTGGAAACTTTTGAACTCTGAACTCC[A/C]GTTAGGATAAAATATCCAGGGTGACACTCTGAAGTAATGT |
T |
T |
C___7450313_10 |
rs895245 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35688037 |
|
|
0.29 |
0.26 |
hCV7450313 |
TCAGCCTCTTTTTGGCTGTTTCTTTTCCTTCCACTGACAG[C/T]ACCACCCCTTTGCCCCAGTTTATCCTTCAGCATACCTGAT |
C |
C |
C____116686_10 |
|
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35691642 |
0.12 |
0.23 |
0.23 |
0.25 |
hCV116686 |
GTTTCTTCGTCTTCTTCATTTTATATTCAGTTGTGTGTTA[C/T]ACCTTCATATGTTGAATTTTCTTCACCTGTCTCTCTTTCT |
T |
T |
C__11612705_10 |
|
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35714772 |
0.38 |
0.24 |
0.17 |
0.28 |
hCV11612705 |
GGCATTCTTCCACATGTATCCTGAGTGCATTTAGATTTTG[G/A]CTTTTCTGTCTTCTTTGAGCAGGCCCAAAGAAGGAATTGA |
A |
A |
C__15976508_10 |
rs2305098 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35745966 |
0.19 |
0.02 |
0.5 |
0.41 |
hCV15976508 |
|
#N/A |
#N/A |
C___7450322_10 |
rs1445487 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35763512 |
0.19 |
0.43 |
0.3 |
0.32 |
hCV7450322 |
CTCCTTCATGGGAGGAAGAGTATGGTTAAAAAGACTTAGA[G/A]CAGGTAGCTGGGAACCCAGATTCCTGGATACTTTTCTTTG |
G |
G |
C__11612727_10 |
|
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35772900 |
0.21 |
0.41 |
0.3 |
0.32 |
hCV11612727 |
TTTCCTGCATTCCTTGAATAATTGTAGAGAACTACACGCT[A/G]TACTTAATGCTCTTTGTAATTCTCAGGGCAGTTCTCCTTT |
G |
G |
C___1130840_10 |
|
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35784888 |
0.08 |
0.1 |
0.01 |
0.08 |
hCV1130840 |
CTGGTAAGAGCCATTTTGGTTGTTTGGATTATTCTTTCCT[C/T]GGATCTTAGTATCTTTTACAGATGTCACCTGCACATGGTA |
T |
T |
C__16251441_10 |
rs2246459 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35787287 |
|
|
0.23 |
0.29 |
hCV16251441 |
|
#N/A |
#N/A |
C___1388004_1_ |
rs2287352 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35800844 |
0.4 |
0.29 |
0.22 |
0.26 |
hCV1388004 |
TCAACTTCACATACACTGCCAAGAGATAAAGGAGAGACAG[A/G]GAACAACCACAGTTGGGGAAAATCAACTAAGGTTGCCCTC |
A |
A |
C___1388007_1_ |
rs1519091 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35804439 |
|
|
0.2 |
0.25 |
hCV1388007 |
TAGGCTTTGTTTCTTGTAGGCTACACAAACTAATCAATGG[T/C]CCTGAGTACAGGGACTGAAGCTCAAAGACCCATTTATTCT |
C |
C |
C___1247736_10 |
|
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35828134 |
0.39 |
0.29 |
0.2 |
0.26 |
hCV1247736 |
TGATCTTGTGAGTTAACTTAGAAAAACTCTGGGAAAACAT[G/A]TATATGGTTTTGTGGGTTTAGATGTACTCTGGGTAGGCTA |
G |
G |
C__16251501_10 |
rs2254914 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35835525 |
0.01 |
0.1 |
0.22 |
0.25 |
hCV16251501 |
|
#N/A |
#N/A |
C___7450344_10 |
rs1464256 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35839287 |
0.2 |
0.38 |
0.22 |
0.24 |
hCV7450344 |
AAGGGGAGGTAGTGTTACCAGAACTAGGAGCTTGGTGGAG[G/A]TCTCCTGGAGGGCTGGTGCCTGGACCTCTGGGCATAAGCT |
A |
A |
C___1247787_10 |
rs829156 |
|
acetyl-Coenzyme
A carboxylase alpha |
ACACA |
Intron |
17 |
35912554 |
|
|
0.08 |
0.05 |
hCV1247787 |
TGTGGGCACGCCGAGCCTTTGAGAGGAAGCCAGTCGGTGT[T/C]TCTAGTTTTGCCAGTTACTTCATAGCAAGACTTTCATGGT |
A |
A |
C___7450430_10 |
rs878520 |
|
transcriptional
adaptor 2 (ADA2 homolog, yeast)-like |
TADA2L |
|
17 |
35957657 |
0.35 |
0.17 |
0.5 |
0.35 |
hCV7450430 |
ATAAACTAATAGCACAATCTTCATGCCCTTTCATTCATAA[G/C]TAACTGAAAAGGTTGACTTTTGTACCAGGAACCCAACGAA |
C |
C |
C___7450431_10 |
rs712037 |
|
transcriptional
adaptor 2 (ADA2 homolog, yeast)-like |
TADA2L |
|
17 |
35958067 |
0.15 |
0.05 |
0.3 |
0.25 |
hCV7450431 |
CATTCTTTTTAGAAGGCCCTTCCAGATCTAGCATCTTCCT[A/G]TATCTTTATCATCACTGCCCTATCTTAGACTCCATTTGCC |
G |
G |
C__15892672_10 |
rs2522971 |
|
transcriptional
adaptor 2 (ADA2 homolog, yeast)-like |
TADA2L |
Intron |
17 |
35977066 |
0.18 |
0.17 |
0.45 |
0.24 |
hCV15892672 |
AAGAAGACCCTGTCTCAAGAAAAAAAAGAAAAATCCGAAC[T/C]CAAATATAAAATAGTATATTCCAAAATATGTATTTAGAAG |
A |
A |
C___7450465_10 |
rs853222 |
|
transcriptional
adaptor 2 (ADA2 homolog, yeast)-like |
TADA2L |
Intron |
17 |
35985572 |
0.15 |
0.19 |
0.4 |
0.42 |
hCV7450465 |
AATGCAAAAATGAAGGGTTAGGAGACTGTTCAAAGTAGCT[G/T]TGGATTTGAGTTAATTTCACCAAGGTTATCAGGTCTTCAG |
A |
C |
C__11621553_10 |
|
|
transcriptional
adaptor 2 (ADA2 homolog, yeast)-like |
TADA2L |
Intron |
17 |
36019731 |
0.3 |
0.18 |
0.26 |
0.11 |
hCV11621553 |
ACTAACCTAATTACTGATTGAAACGACCCAAGTAGCAGTT[C/G]GAGAGTTACTGACTGCTCCAATCTACCAGTTATTGTTAGT |
C |
C |
C___2554274_10 |
|
|
transcriptional
adaptor 2 (ADA2 homolog, yeast)-like |
TADA2L |
Intron |
17 |
36021732 |
0.31 |
0.13 |
0.27 |
0.12 |
hCV2554274 |
TAGTACTTCCATCGATCTCTTGCCTTTCTGTGGTATTTCT[A/G]TGAGAGCTCTACATAGTTACCATTTGATTTTTCACTATAA |
T |
T |
C____346718_10 |
|
|
transcriptional
adaptor 2 (ADA2 homolog, yeast)-like |
TADA2L |
|
17 |
36034444 |
0.3 |
0.03 |
0.27 |
0.11 |
hCV346718 |
CTGTGTGCTTTGTTGGAAGCATCTGCTCAAACTTTTGACT[T/G]TTGTAAATATGCATGCAGCTGGGAAGGGATTCATCTAAGG |
A |
A |
C____346717_1_ |
rs2074412 |
IMS-JST001240 |
transcriptional
adaptor 2 (ADA2 homolog, yeast)-like |
TADA2L |
|
17 |
36034616 |
0.38 |
0.41 |
0.31 |
0.16 |
hCV346717 |
TTTCCTTGTAAAATCATATCTCGTAGAAAACATTTTACCA[C/T]TACCATCACCCCTAGTTGGTTGTGAAGTGATTGCCTCTTA |
G |
G |
C___2554313_10 |
rs1045013 |
|
AP1
gamma subunit binding protein 1|dual specificity phosphatase 14 |
AP1GBP1|DUSP14 |
UTR
3 |
17 |
36074443 |
0.17 |
0.16 |
0.37 |
0.35 |
hCV2554313 |
TTGGGTGGGACAATTTTACCTGAAGTCCTGCAGACTGGCC[A/G]TGGGGATGACGGGGGCCCCGTCCCTTGCGGTGTTCTTCAT |
T |
C |
C___7450607_1_ |
rs1045000 |
IMS-JST057883 |
AP1
gamma subunit binding protein 1 |
AP1GBP1 |
Silent
Mutation |
17 |
36091673 |
|
|
0.32 |
0.24 |
hCV7450607 |
TGAGTGTGGCGAGTGACATGAAGCCGATTAGGTTATTCCA[T/C]ACTTTATCGATGTCCTTCAGCAACTGCTGGAGTTTCTCAC |
G |
G |
C___2554327_10 |
rs1034686 |
|
AP1
gamma subunit binding protein 1 |
AP1GBP1 |
Intron |
17 |
36094691 |
0.31 |
0.23 |
0.06 |
0.08 |
hCV2554327 |
GAGCCGGTCTGCTATTGTAAGTGTGAAAGAAGCCTCACCT[T/A]AGATGCATGACTTCCACAGAGTTACTCTTTGCCCAGGGAC |
A |
A |
C_____51682_10 |
|
|
AP1
gamma subunit binding protein 1 |
AP1GBP1 |
Intron |
17 |
36154226 |
0.26 |
0.13 |
0.32 |
0.24 |
hCV51682 |
GTTCAAGTACTCATGATCTTGTGGCCATGACCTTGCTGTC[G/A]GTTTCTTACATATGTTTTCAGAAATGATCCATGCATAATT |
T |
T |
C____151479_10 |
|
|
AP1
gamma subunit binding protein 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide
52|ATP-dependent RNA helicase |
AP1GBP1|DDX52|ROK1 |
|
17 |
36166578 |
0.24 |
0.1 |
0.22 |
0.13 |
hCV151479 |
ACACTGACTAAGTTGATACAGGTTACTGTAGATACTTTAA[A/G]CAGACACAATAAAGTCAAGGATCATAGATGTGACCTCAGT |
C |
C |
C__25609606_10 |
rs3813911 |
|
DEAD
(Asp-Glu-Ala-Asp) box polypeptide 52|ATP-dependent RNA helicase |
DDX52|ROK1 |
Intron |
17 |
36198825 |
0.06 |
0.33 |
0.27 |
0.25 |
hCV25609606 |
AATACCCCAAGGGTGGCGAGAGCCAGGCCACGGGTGTCCA[A/T]GTGCGCCGGCCTCCCCCAGCAGCGGGTTCATTCCCGGGCT |
A |
A |
C___2559950_10 |
rs739753 |
|
transcription
factor 2, hepatic; LF-B3; variant hepatic nuclear factor |
TCF2 |
|
17 |
36239827 |
0.15 |
0.17 |
0.5 |
0.38 |
hCV2559950 |
GCCTTGGTTTACCACTGAGATTTGCCATATACCATACAGA[T/A]GAACAAAAACGTTACCAATTATTGGCAGGTTTTTTTTGTT |
A |
A |
C___2559930_1_ |
rs2269843 |
IMS-JST024165 |
transcription
factor 2, hepatic; LF-B3; variant hepatic nuclear factor |
TCF2 |
Intron |
17 |
36254530 |
0.33 |
0.31 |
0.33 |
0.38 |
hCV2559930 |
TAAGGATTCCCTTTGCAAACAACAGGGAGCCTCAGAAGGA[T/C]CTAATTTCTGGCCGAGTCCATGCTTGCCACAACCTCTGCA |
G |
G |
C___2559920_1_ |
rs2285740 |
IMS-JST036049 |
transcription
factor 2, hepatic; LF-B3; variant hepatic nuclear factor |
TCF2 |
Intron |
17 |
36264278 |
0.3 |
0.45 |
0.33 |
0.44 |
hCV2559920 |
TCTGTGCCTCTCACAGGTAACTGACACAAGTGGTTCTTCA[C/T]ATGGAGAAGAATCTTTCTTAAGGGATAGGTGGGAGTAGGA |
G |
G |
C__16098546_10 |
|
|
transcription
factor 2, hepatic; LF-B3; variant hepatic nuclear factor |
TCF2 |
Intron |
17 |
36282239 |
|
|
0.34 |
0.39 |
hCV16098546 |
|
#N/A |
#N/A |
C___2559889_10 |
|
|
transcription
factor 2, hepatic; LF-B3; variant hepatic nuclear factor |
TCF2 |
Intron |
17 |
36293590 |
0.47 |
0.34 |
0.24 |
0.35 |
hCV2559889 |
AGAAATTCTCATTGAATACAGAGAGGCAGCACAGACTGGA[G/A]ATGCTGCATAAAGCTTAAATTGGGCAGGGCCCAAGCGTTG |
C |
C |
C___2559887_10 |
|
|
transcription
factor 2, hepatic; LF-B3; variant hepatic nuclear factor |
TCF2 |
Intron |
17 |
36295390 |
0.45 |
0.35 |
0.21 |
0.23 |
hCV2559887 |
AGGTGACTGCCCCTGTACGGTACACCTCATCCCTTTCTTC[C/T]GAGGTTAGTGGGCAAAAGAGGACTTCCCATCTTCAGGAAT |
G |
G |
C____252974_10 |
|
|
|
|
|
17 |
36350624 |
|
|
0.19 |
0.2 |
hCV252974 |
TCCTGGCAGAACTTAAGCTAAGAGCTTTAAAAAAAGTTAA[A/T]CTTCTTGCACAGCTGATGTTGCAGGCTCATTTTCATATTC |
A |
A |
C____479921_10 |
|
|
mitochondrial
ribosomal protein L45 |
MRPL45 |
|
17 |
36860716 |
0.16 |
0.34 |
0.14 |
0.16 |
hCV479921 |
TCGGGTGGCAGGAACTGCCCAAAGCTGGCCTCCAGTCCCT[G/C]GGCAGCGCTGACCACAGGGTGGCAGAGGTATGCCCCTGGG |
C |
C |
C___8848134_10 |
rs1045638 |
|
|
|
|
17 |
36932501 |
|
|
0.18 |
0.06 |
hCV8848134 |
TGTGGTACCTCTTCTTTCCTTGGCTTCCATGGTAGTATTA[T/C]CAACTAAGCAAGATTGTGATCCCAGAAATTGGCTTAGCAT |
C |
C |
C__11616360_10 |
|
|
|
|
|
17 |
36954092 |
0.32 |
0.19 |
0.4 |
0.4 |
hCV11616360 |
CTTGAGTGGACCATTGCCCCACCCTCCATCATTAAATATG[G/C]TCAGTGAGGTTCACTCTATGGGATGTCTGGGGCTGTGGCC |
C |
C |
C___2060954_10 |
|
|
|
|
|
17 |
36992173 |
0.41 |
0.1 |
0.49 |
0.44 |
hCV2060954 |
GGAGGAGGTAAGGGAGGACTGGCGGGCGCTGGACCTGCAC[A/G]GGACTCCTCTTCCAGCTCCTGTCTCTCCCTGTCCTCCCCT |
A |
G |
C__11628816_10 |
|
|
|
|
|
17 |
36999873 |
0.44 |
0.43 |
0.49 |
0.43 |
hCV11628816 |
CTAGGCTGTGGCCGGGAGAGGCAGTCTCTTCTTCCACAGC[A/G]CAGTCTGTTTGAGGGGGAGATGTCATCTCTGCCCTTGAGG |
G |
A |
C__11935425_10 |
|
|
|
|
|
17 |
37064791 |
0.09 |
0.1 |
0.18 |
0.11 |
hCV11935425 |
AGAAGCCAGAGGGGCATCTGGAGAGAGGGGTCCCTTGAAT[G/C]GTGGAGGGGTGGGGGCAGAAAAGGGGGGGGAGGGGGCACG |
C |
C |
C__11878842_10 |
|
|
|
|
|
17 |
37102374 |
0.14 |
0.34 |
0.27 |
0.14 |
hCV11878842 |
TCTGTCTCTTTCCAGGATTTTAACCCATGGGACAGACTAG[G/C]GTGACTGAGAGCAAAGGGCTCCTCTAGTGTTCTCTAAGGT |
G |
G |
C___1516265_10 |
|
|
|
|
|
17 |
37108695 |
0.09 |
0.06 |
0.08 |
0.01 |
hCV1516265 |
GAAATGTGCCAATGTGTCTTGTTCCCTGCAGTGAGGATGG[G/C]AGTGGGGACACTCCTCCCCATCCCCAGCTACATCCAGTAG |
C |
C |
C___1516263_10 |
|
|
|
|
|
17 |
37111983 |
0.08 |
0.18 |
0.08 |
0.01 |
hCV1516263 |
TCCCTCTCACCATGGTCACCATCCTCTGTTGTGCTCCCCA[A/G]AATAAGGTCCAAATACATGAGAGATGACTTTGGGAAGAAC |
G |
G |
C___1516257_10 |
rs2502365 |
|
|
|
|
17 |
37118734 |
0.23 |
0.31 |
0.19 |
0.08 |
hCV1516257 |
AGCCAGATGCCTTTCCTAGGCAGGAAACCAACACCCAGAG[A/T]ACAAGCCTGACCCAATCTGCAGGAGCTGAAGGCAGAGCCC |
A |
A |
C___1516228_1_ |
rs2075052 |
IMS-JST002405 |
|
|
|
17 |
37151944 |
0.11 |
0.05 |
0.49 |
0.49 |
hCV1516228 |
GCTGCTCAGTCTCCTTCACCCCCAACCTCAGGGTCAGGAA[T/G]TGGGGCCACCGTTGGGAGGTGGGATCAGGCCCTTCCTAGG |
G |
G |
C___2200012_10 |
|
|
|
|
|
17 |
37216609 |
0.2 |
0.36 |
0.12 |
0.07 |
hCV2200012 |
CTGCCCCATGTGCTGCCAACTTCCAGCCATCAGCGTACCA[C/T]CCCTCTGTTAAGTAGCAGGGTGCCCTGGCCTTGGCCTTTC |
T |
T |
C__15872293_10 |
rs2241013 |
|
myeloid/lymphoid
or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 |
MLLT6 |
Intron |
17 |
37243426 |
|
|
0.13 |
0.14 |
hCV15872293 |
CGGTGGGGGGGTGAGGCGGGAGCTTGGCTTCCCTGTGGCT[C/G]TGTTAGTGGTTCCTCTGGGTCCTCCCCATGACATCACAGT |
C |
C |
C___1247376_10 |
|
|
myeloid/lymphoid
or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 |
MLLT6 |
Intron |
17 |
37250278 |
0.18 |
0.04 |
0.47 |
0.48 |
hCV1247376 |
GTCATACAGAGCTAATTATGATAATAGCTGCAGTCATTAA[G/A]GGCTTGCTACATGCTAGCTAAACCCTTCAGGTAAACACTT |
G |
G |
C___1247384_10 |
rs2879097 |
|
myeloid/lymphoid
or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to,
6|ring finger protein 110|zinc finger protein 144 (Mel-18) |
MLLT6|RNF110|ZNF144 |
|
17 |
37264522 |
0.27 |
0.07 |
0.17 |
0.11 |
hCV1247384 |
CCCCCACCAGCCCTTCTGTGACGGCTCCCACTTCTTCCAA[C/T]GCACTGGCCTATCTCCACTCAAGTTCAAGGCCCAAGAGAC |
T |
T |
C___3129607_1_ |
|
|
proteasome
(prosome, macropain) subunit, beta type, 3|phosphatidylinositol-4-phosphate
5-kinase, type II, beta |
PSMB3|PIP5K2B |
Intron |
17 |
37293514 |
0.27 |
0.43 |
0.33 |
0.49 |
hCV3129607 |
GAGGGGCTTCCCACATCCTGGGAATCATCCCTTACTTCAG[G/T]CATGTCTTGGGGCCAGAGCTGGGAATCTTGAGCCTAGAAA |
T |
T |
C____944883_1_ |
rs228288 |
IMS-JST012747 |
proteasome
(prosome, macropain) subunit, beta type, 3|phosphatidylinositol-4-phosphate
5-kinase, type II, beta |
PSMB3|PIP5K2B |
|
17 |
37301144 |
0.2 |
0.13 |
0.33 |
0.44 |
hCV944883 |
CCCCCAACCCCACCAAGACTGAGCAGACCACCTCAGGAAG[A/T]GGCATACAAGTCCTGAACTGTCCTGGCCCCACTCCTGTGA |
A |
A |
C___3129621_10 |
|
|
phosphatidylinositol-4-phosphate
5-kinase, type II, beta |
PIP5K2B |
|
17 |
37317777 |
0.45 |
0.11 |
0.3 |
0.28 |
hCV3129621 |
CCTCAGCTCCAGAGCAGCTCACTGCCACCTGAGCTGGCTC[C/T]AGATGAATCACCCTGGGCCCAGCCACATGCCCCAAGGGCC |
C |
C |
C___2200025_10 |
rs228240 |
|
hypothetical
protein FLJ20291|phosphatidylinositol-4-phosphate 5-kinase, type II, beta |
FLJ20291|PIP5K2B |
|
17 |
37323948 |
0.23 |
0.21 |
0.22 |
0.34 |
hCV2200025 |
ATCAGAAAACATGACATGCTAGAAATACACTCACAGGACC[A/G]AGGAGGTCCAAAGCAAGAACTGCAACTCCAGAGAGGAAGA |
A |
A |
C___3129733_10 |
|
|
hypothetical
protein FLJ20291 |
FLJ20291 |
|
17 |
37356835 |
0.28 |
0.35 |
0.29 |
0.43 |
hCV3129733 |
TGTTGCCATGGCAGCTCACCAGGGCATTCGGCTCAAAGCT[T/C]CACGTAGTCTCTGCTAGACCTAAGGTGGACCAGACTAGGC |
C |
C |
C____589635_1_ |
rs584121 |
IMS-JST038189 |
ribosomal
protein L23 |
RPL23 |
|
17 |
37372799 |
0.28 |
0.18 |
0.19 |
0.33 |
hCV589635 |
CGTGGGGGAAGTTGCTTGCTTGGCCCCAGAGGAGGTTGAC[T/C]AGACTGACTATGCAAGAGGAGTTGGAAAGTGAAGGGGAGG |
T |
T |
C___7452629_1_ |
rs923370 |
IMS-JST027172 |
ribosomal
protein L23 |
RPL23 |
|
17 |
37385113 |
0.19 |
0.1 |
0.19 |
0.34 |
hCV7452629 |
ACGACGTCGCTTTTAGCCCTCTCTGCGAAGTGGGAGTTGA[G/A]GTAGAAGCGCAAGAGATAGGAAGTATCTTCTCTACGAGCT |
G |
G |
C___3129716_10 |
|
|
LIM
and SH3 protein 1|ribosomal protein L23 |
LASP1|RPL23 |
|
17 |
37393072 |
0.5 |
0.36 |
0.3 |
0.44 |
hCV3129716 |
CAGTGATTCAGAATAGTTTGGTGTCTATGATAAACTATTT[C/A]GAGTGATCTGGACCCAAGTAAAGTGGTGGGAGAGAAAAGA |
A |
A |
C___7452643_10 |
|
|
LIM
and SH3 protein 1 |
LASP1 |
|
17 |
37399282 |
0.16 |
0.49 |
0.49 |
0.42 |
hCV7452643 |
GTCTTGGACGGGGCAGTAGTTCGTACTTGACTATGAAAAC[T/C]AGGAGAAGTAATCCAAATTCAGAGGTTTTCATATACTCGC |
T |
C |
C__11935244_10 |
|
|
LIM
and SH3 protein 1 |
LASP1 |
Intron |
17 |
37404032 |
0.45 |
0.31 |
0.39 |
0.26 |
hCV11935244 |
|
#N/A |
#N/A |
C___3129701_10 |
rs226219 |
|
LIM
and SH3 protein 1 |
LASP1 |
Intron |
17 |
37405734 |
0.27 |
0.22 |
0.07 |
0.07 |
hCV3129701 |
CCCCAAAAAGGACACAGTGGAAGGAGCTGGTGGGTTTTCT[T/C]GAACCTTGGGGCCTTCCTCCAGAGAGGGTAGGGGAGTCGC |
C |
C |
C___3129662_20 |
rs1038651 |
|
LIM
and SH3 protein 1 |
LASP1 |
Intron |
17 |
37428128 |
|
|
0.3 |
0.26 |
hCV3129662 |
TACCTGATTTCTGTCACAACTCTTTTACAGATGAAGAAAC[T/C]GAGGCCAGGGGCTTGAGATGCAGGGCTTCTGTATCTGGAG |
T |
T |
C___3129659_1_ |
rs1130638 |
IMS-JST037566 |
LIM
and SH3 protein 1 |
LASP1 |
Mis-sense
Mutation |
17 |
37429735 |
0.38 |
0.1 |
0.08 |
0.12 |
hCV3129659 |
AGCTCCAGAGAATCAAGAAGACCCAGGACCAGATCAGTAA[T/C]GTGAGCTCTTGCCCTGCCCTGCGGCATCCCTGCTGCCCTC |
T |
T |
C___3129654_10 |
rs1982815 |
|
LIM
and SH3 protein 1 |
LASP1 |
Intron |
17 |
37435097 |
|
|
0.34 |
0.32 |
hCV3129654 |
ACACATCTATGGTGAGTAGTTGTGTCATCATTAAAGGCAT[C/T]TGAAGAGTTGCCTTTTGATGGGTCCATGCTATGGGATAAA |
C |
C |
C___3129756_10 |
rs649997 |
|
LIM
and SH3 protein 1 |
LASP1 |
|
17 |
37458427 |
0.36 |
0.49 |
0.42 |
0.47 |
hCV3129756 |
TCCACATAGTTCTCTGACCCATTAGAGTTGAAGAAACTAT[G/A]TATTTTGGGATTCAGAGTAGAATTGGCCTGCAAATCTGGG |
A |
G |
C___7452789_10 |
rs1014263 |
|
|
|
|
17 |
37535409 |
0.07 |
0.01 |
0.37 |
0.29 |
hCV7452789 |
CTAGAAATTCCTCACTCTTGCTTTCCTCCCACATCAAGTC[A/G]CTTGCCAAGTCCTATAGATCCTCTTACAGAAGTATCTGTG |
G |
G |
C____468728_10 |
|
|
plexin
domain containing 1|tumor endothelial marker 7 precursor |
PLXDC1|TEM7 |
|
17 |
37591824 |
0.23 |
0.06 |
0.44 |
0.4 |
hCV468728 |
CGAGGATCTCTACAGGCCTGGAGCAGTCTGTCTGTCATAA[G/T]CCATAATCTGCTTCTATATTAAACTGTGGCCATGTGGTTC |
G |
G |
C____148388_10 |
|
|
plexin
domain containing 1|tumor endothelial marker 7 precursor |
PLXDC1|TEM7 |
UTR
3 |
17 |
37595335 |
0.3 |
0.14 |
0.48 |
0.47 |
hCV148388 |
GTGTGCATATCTTATTGCTCAAAACATTAAACAAGGCTGT[A/T]TACAAACACACACACAAACATACACAGATACACTGTACAG |
A |
T |
C__11619211_10 |
|
|
plexin
domain containing 1|tumor endothelial marker 7 precursor |
PLXDC1|TEM7 |
Intron |
17 |
37602316 |
0.27 |
0.14 |
0.47 |
0.48 |
hCV11619211 |
CTAATAAGCCAACAGTCACCCTCTGAGAACATCCTAGGCA[C/T]TTGAAATACGTCCCGGGGGAGAGAGTATTTTCCACAGAGC |
C |
T |
C_____43704_1_ |
rs3744077 |
|
plexin
domain containing 1|tumor endothelial marker 7 precursor |
PLXDC1|TEM7 |
Intron |
17 |
37610156 |
0.3 |
0.18 |
0.47 |
0.48 |
hCV43704 |
GAGACCCACAGAGCCCTCTGAAACCTTCCAAAGTGGGTCT[A/G]ATTGGCTCAAGGCAGTCTGGAAAACAAATCTTAGATGGAA |
G |
A |
C____317056_10 |
rs1882473 |
|
plexin
domain containing 1|tumor endothelial marker 7 precursor |
PLXDC1|TEM7 |
Intron |
17 |
37615846 |
|
|
0.26 |
0.33 |
hCV317056 |
GTCCCATGTGCAGAGCCGAGAGGGGAACGGCCCAGACGTG[A/G]TCCCAGCAGCAGCCAGAACTGCTACCAGGCTGCACAGAGT |
A |
A |
C__11625702_10 |
rs4795348 |
|
plexin
domain containing 1|tumor endothelial marker 7 precursor |
PLXDC1|TEM7 |
Intron |
17 |
37628027 |
|
|
0.37 |
0.38 |
hCV11625702 |
TAAAGTTGCTTTTATACTAACCATGAAATAAAGAGTTTCT[T/G]AAGCAAATGAACAGAGGAAATAATATTGACTTCCGGCGGT |
G |
G |
C___2956936_10 |
rs16228 |
|
plexin
domain containing 1|tumor endothelial marker 7 precursor |
PLXDC1|TEM7 |
Intron |
17 |
37639718 |
0.24 |
0.49 |
0.44 |
0.45 |
hCV2956936 |
ACAGACTATAGGGCGAGGGGGCAGGAAGAGGAGAGGACTC[A/G]CAGCTTTCCCCATCCCTGGGGAAGTGGGATGTGGAACTGA |
G |
A |
C__11625866_10 |
rs16541 |
|
ribosomal
protein L19 |
RPL19 |
|
17 |
37740101 |
0.23 |
0.34 |
0 |
0.07 |
hCV11625866 |
TTGGGATCACCAGTAGCTTCCTAGGCACCCTTTGCCCCAG[A/G]CCAGTAGTGTTGCTGGTCCGTCCACCCCCAGAGTGGGCAC |
G |
G |
C___1144684_10 |
|
|
ribosomal
protein L19 |
RPL19 |
|
17 |
37753501 |
0.49 |
0.43 |
0.08 |
0.24 |
hCV1144684 |
CTGGTACCCCTTGGTCTCAGTGCCAAGAGCCACCTCTGCT[A/G]GGTACCGGAGGCCTCTGGAACAGAATGTTCCCGGGTACCA |
G |
G |
C___1144689_10 |
rs883544 |
|
ribosomal
protein L19 |
RPL19 |
|
17 |
37762376 |
0.2 |
0.23 |
0.29 |
0.17 |
hCV1144689 |
GGGCCCGAGAGGCAGATACCACTCTAATGAGCTAAGGCTC[A/G]TGGCAGGCAGCGGTAATTATGATTTTATGGAAATACAGAA |
A |
A |
C___1144695_10 |
|
|
ribosomal
protein L19 |
RPL19 |
|
17 |
37771164 |
0.27 |
0.26 |
0.26 |
0.14 |
hCV1144695 |
GGAAAGGCCGGGGGCCCTTCGAGCCTGAGCTCTGGCTCAG[T/G]AGTCCTTGTGGACTGGGAAGGCTGAGCCTGGCTCCCTGCT |
G |
G |
C___1144711_10 |
rs752314 |
|
F-box
protein FBL2|ribosomal protein L19 |
MGC15482|RPL19 |
|
17 |
37785663 |
0.26 |
0.28 |
0.27 |
0.14 |
hCV1144711 |
CTTGGGGCATGACAGAAGAGAAAAGGTAAATATGTCTGGA[C/T]ACCTCTCTTCTCCCATCTCTTCCTAGGGTAAGGACTGTCA |
C |
C |
C___2960107_10 |
|
|
F-box
protein FBL2|ribosomal protein L19 |
MGC15482|RPL19 |
Intron |
17 |
37802345 |
0.26 |
0.26 |
0.27 |
0.15 |
hCV2960107 |
CACAGAAGAATATAATTGAAGCTTGTAGTTAATGCCAAAA[C/T]GCATGAAATGCATTAAAAGCCTTCTTGATGGCATACTGCT |
C |
C |
C___2960097_10 |
rs667239 |
|
F-box
protein FBL2 |
MGC15482 |
Intron |
17 |
37817204 |
0.18 |
0.49 |
0.23 |
0.08 |
hCV2960097 |
AGAAACGCTCTGCATGTTTTTTCACTTAAATCCCTACTCA[A/G]GATAACCTTTTGCATAACACTAATGTAGGAACTGGATTTT |
G |
G |
C___2960090_10 |
rs632202 |
|
F-box
protein FBL2 |
MGC15482 |
Intron |
17 |
37828257 |
0.3 |
0.26 |
0.27 |
0.1 |
hCV2960090 |
AAAAATATCTTTCCTCTACAAAACCAAGATAAAATTTGCT[C/A]AATAGAGTTAATGGCCTGAATTTAAGGTTGTATCAGCCAG |
A |
A |
C___2581922_10 |
|
|
F-box
protein FBL2 |
MGC15482 |
Intron |
17 |
37843299 |
0.27 |
0.28 |
0.27 |
0.13 |
hCV2581922 |
TCACTTGGATTTGAACGTTTTAGAGCATTTAAAAAATTAA[G/A]AGGAGAAGACAAATATAGTCACTATGTTCCTCTATTAAAG |
A |
A |
C___2581912_10 |
|
|
F-box
protein FBL2 |
MGC15482 |
Intron |
17 |
37862131 |
0.27 |
0.31 |
0.27 |
0.15 |
hCV2581912 |
GTACAAAGTTTGTAAATTCTCCAAGAGAGATAAATGATGG[C/T]TAATTTGCCAGGCAAGCCTTTAAAAATAAAATCCTAAATT |
C |
C |
C___2581870_10 |
|
|
F-box
protein FBL2 |
MGC15482 |
Intron |
17 |
37900237 |
|
|
0.27 |
0.15 |
hCV2581870 |
ACTGAAGTTTCTCATGTATTGTGGTTTCTTCTTTCACTCA[C/T]TTTTGTCCCTGTGATCTCATGTTTCTTTTGTTCCCTTATT |
T |
T |
C__11621884_10 |
|
|
F-box
protein FBL2|PPAR binding protein |
MGC15482|PPARBP |
Intron |
17 |
37931394 |
0.31 |
0.26 |
0.25 |
0.15 |
hCV11621884 |
AAACTCTAAGAAGGCCAATTCTTTGATTTTCTCCACTCCT[C/G]AAGTGCAACAGTAACACTGAAGCTCTGAACTTAAACTGCA |
C |
C |
C____230149_10 |
|
|
CDC2-related
protein kinase 7 |
CRK7 |
Intron |
17 |
38044667 |
0.28 |
0.32 |
0.27 |
0.15 |
hCV230149 |
GGTAGCCTACCCAAATAAAATAAAGCTTTAGTTAAATTTT[G/A]CTGACTCAAGCTGGGTGTGTTTTTGTTCTGGACAATTTGC |
A |
A |
C___2858196_10 |
rs1077715 |
|
CDC2-related
protein kinase 7 |
CRK7 |
Intron |
17 |
38058511 |
0.29 |
0.28 |
0.27 |
0.1 |
hCV2858196 |
CAGAAGTTGTTGGATTTACTTTTCAGAGGAAAGTGTAGAG[A/T]TGCCGTAACTAATTATTGCAGTCACCCCTGGATTATTCAG |
A |
A |
C___2858210_1_ |
rs2303316 |
|
|
|
|
17 |
38079180 |
|
|
0.27 |
0.16 |
hCV2858210 |
TAGAGCAAGTGTTAGCAAGAAACGTCCCTGGATGTAGTCA[G/A]GCAGTAAGTATGCATGGGGTACCTTGAGCACCAGCATTTA |
A |
A |
C___7452370_1_ |
rs907094 |
IMS-JST045073 |
START
domain containing 3|protein phosphatase 1, regulatory (inhibitor) subunit 1B
(dopamine and cAMP regulated phosphoprotein, DARPP-32) |
STARD3|PPP1R1B |
Intron |
17 |
38165334 |
0.27 |
0.28 |
0.4 |
0.43 |
hCV7452370 |
GGCAGTCTGGTAAGCTGAGGGGCCTGTGACATGTGGATTA[G/A]CTGTGGGTCCTCCTTGAGTATACGAGGACGTCCCCTTCTA |
A |
G |
C___3194785_10 |
rs881844 |
|
START
domain containing 3 |
STARD3 |
Intron |
17 |
38185181 |
|
|
0.36 |
0.43 |
hCV3194785 |
TCGGAGGGGTTGTGTCATTTGGCCAAGGTCCCTCTGCACC[C/G]AAGTGTGTGAAGGCAACGGCCTTGAACCTACCCTCCAGCT |
G |
C |
C___3194775_10 |
|
|
CAB2
protein|START domain containing 3|phenylethanolamine
N-methyltransferase|titin-cap (telethonin) |
CAB2|STARD3|PNMT|TCAP |
|
17 |
38202126 |
|
|
0.36 |
0.43 |
hCV3194775 |
TTATGATTGAAGCACAATGGCCGAGGGAAGTGAAAGGGAA[A/G]GAACTGGCTCCAGCTCCCTCTCACAACTGGACTTGAGTTC |
G |
A |
C___7452405_1_ |
|
|
CAB2
protein|START domain containing 3|phenylethanolamine
N-methyltransferase|titin-cap (telethonin) |
CAB2|STARD3|PNMT|TCAP |
UTR
3 |
17 |
38203750 |
0.39 |
0.33 |
0.34 |
0.44 |
hCV7452405 |
GGGGAGGAAACAGGCAGCTGTCCTCCCGGTAGAGCTAAGA[G/A]CACACTCAGTTCCACCCCAGTTCAGCTCCAGGAGGTAGAG |
A |
G |
C__11625923_1_ |
rs1810132 |
IMS-JST066143 |
v-erb-b2
erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived
oncogene homolog (avian) |
ERBB2 |
Intron |
17 |
38240968 |
|
|
0.34 |
0.48 |
hCV11625923 |
|
T |
C |
C___7452451_1_ |
rs1801200 |
IMS-JST065131 |
v-erb-b2
erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived
oncogene homolog (avian)|chromosome 17 open reading frame 37|hypothetical
protein MGC14832 |
ERBB2|C17orf37|MGC14832 |
Mis-sense
Mutation |
17 |
38254551 |
0.24 |
0.04 |
0.1 |
0.21 |
hCV7452451 |
CCTGACCCTGGCTTCCGCCCCCAGCCCTCTGACGTCCATC[A/G]TCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGG |
G |
G |
C___1551691_10 |
|
|
growth
factor receptor-bound protein 7 |
GRB7 |
|
17 |
38283830 |
0.26 |
0.02 |
0.2 |
0.22 |
hCV1551691 |
GGCTGAGGCTGCTCCACAAGCGTTCTCGAAGTTCACCATA[A/C]AAGAAGGGGCGGTGTGGGGAAATGGGGATGAGGCCTGAAA |
A |
A |
C__15867671_10 |
rs2941507 |
|
zinc
finger protein, subfamily 1A, 3 (Aiolos) |
ZNFN1A3 |
Intron |
17 |
38304779 |
0.4 |
0.4 |
0.26 |
0.36 |
hCV15867671 |
ACCTCATTAACATGTTTACCACAGGTGAGTGAGATCTTTT[C/T]TTCATGTTCTTTTCGTTATGAAAACTTCCTTTAATAAAGT |
T |
T |
C___9272411_1_ |
rs883770 |
IMS-JST042348 |
gasdermin-like|hypothetical
protein PRO2521 |
GSDML|PRO2521 |
Intron |
17 |
38438344 |
0.38 |
0.08 |
0.23 |
0.27 |
hCV9272411 |
GCCCTCACTGCTGGTGCCAGGGAGCCTGCATCCTCACCAG[C/T]GTGTGTCAATGGGAAAGCACTGTATTTGCAGACCCTTCCC |
T |
T |
C___9272433_10 |
rs869402 |
|
gasdermin-like|ORM1-like
3 (S. cerevisiae)|hypothetical protein PRO2521 |
GSDML|ORMDL3|PRO2521 |
Intron |
17 |
38443006 |
0.4 |
0.11 |
0.17 |
0.06 |
hCV9272433 |
CACTGGCTTGCCCACAAGGCAGAGGGAAACAAGCACAAAA[T/C]ACTGATGTGGGCAGCTCAGTGCAGGAGAGCAGAGGAGAGC |
C |
C |
C___9272459_10 |
rs1031458 |
|
gasdermin-like|ORM1-like
3 (S. cerevisiae)|hypothetical protein PRO2521 |
GSDML|ORMDL3|PRO2521 |
Intron |
17 |
38447136 |
0.4 |
0.13 |
0.22 |
0.33 |
hCV9272459 |
AAAAGAAATGGACTGTATCAGAGAGGTCTGAGCTATGAGC[T/G]CCTTGCTATTGTTCATATTATGAAATATTTTTTCACATTA |
G |
G |
C___1385763_10 |
|
|
gasdermin-like|ORM1-like
3 (S. cerevisiae)|hypothetical protein PRO2521 |
GSDML|ORMDL3|PRO2521 |
|
17 |
38457770 |
0.41 |
0.33 |
0.27 |
0.33 |
hCV1385763 |
AGGAGTTGAGCCGAAAACTTCTGCTGCCATAGCTGGCAGG[T/C]GGCTGCTTAGTGCTGGGCCCTGATGTGGTTTCATAACCTG |
T |
T |
C___1385759_10 |
|
|
ORM1-like
3 (S. cerevisiae) |
ORMDL3 |
|
17 |
38460685 |
|
|
0.24 |
0.3 |
hCV1385759 |
TTGCAGATCACTTTCTGCTTTATTTAGCGGGAGTCCCTGT[C/T]GTCATCTTTCTCCTTCTCTCTTGGCCCTCATAATTATCAT |
T |
T |
C___1385752_10 |
|
|
ORM1-like
3 (S. cerevisiae) |
ORMDL3 |
|
17 |
38466623 |
0.32 |
0.15 |
0.24 |
0.27 |
hCV1385752 |
CCTGGCGGATCCCTCAACCCAAGCCTTCCCTTAGGTGATC[G/A]GAGGGCTATATTTGTGCACACACCAGTCTTCCCTCATTGG |
G |
G |
C___7453052_10 |
|
|
gasdermin |
GSDM |
Intron |
17 |
38494511 |
0.35 |
0.13 |
0.24 |
0.29 |
hCV7453052 |
AGGCTGCTGTTGCCCAAGCCCTTCCCAGGTGCACCCAGGT[A/G]GCACCAGGAGGTTGTCCTGCCCCATCCTGGCCCTCCCAGG |
A |
A |
C__11631026_10 |
|
|
gasdermin|proteasome
(prosome, macropain) 26S subunit, non-ATPase, 3 |
GSDM|PSMD3 |
Intron |
17 |
38503728 |
0.38 |
0.21 |
0.41 |
0.24 |
hCV11631026 |
ATAATCTCCCTGTGTTTTTATAATGATCACTGATGAAACT[G/C]CCTTGAAGACTGTTTTAGATGAAAAGGCAAAAATGGGTTT |
C |
C |
C___1385713_1_ |
rs2305481 |
IMS-JST062790 |
gasdermin|proteasome
(prosome, macropain) 26S subunit, non-ATPase, 3 |
GSDM|PSMD3 |
Intron |
17 |
38513587 |
0.4 |
0.12 |
0.44 |
0.26 |
hCV1385713 |
ATTGCAGAAATTGTGGAATGTATGAGAAGTTAAAAGCAGG[G/A]GATAAAAAACATGGTTAACATTTTTTCTTGTGAATTTTTG |
A |
A |
C__15977478_10 |
rs2305482 |
|
gasdermin|proteasome
(prosome, macropain) 26S subunit, non-ATPase, 3 |
GSDM|PSMD3 |
Intron |
17 |
38515890 |
0.5 |
0.39 |
0.46 |
0.27 |
hCV15977478 |
|
#N/A |
#N/A |
C___7453069_1_ |
rs7021 |
IMS-JST013054 |
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 3 |
PSMD3 |
UTR
3 |
17 |
38528838 |
0.38 |
0.28 |
0.46 |
0.44 |
hCV7453069 |
GCTGGGGGGCTGGGGAGGGGTAGGGGGAATGGGGACAGGC[A/T]CTTTCCCCCTTGGGGGTCCCCTGCCCAGGGCACTGTCCCC |
A |
T |
C___1385666_10 |
|
|
thyroid
hormone receptor associated protein 4|colony stimulating factor 3
(granulocyte)|thyroid hormone receptor-associated protein (100 kDa) |
THRAP4|CSF3|TRAP100 |
|
17 |
38546257 |
0.4 |
0.03 |
0.45 |
0.28 |
hCV1385666 |
TGGGGGACAGGCTTGAGAATCCCAAAGGAGAGGGGCAAAG[C/G]ACACTGCCCCCGCAAGTCTGCCAGAGCAGAGAGGGAGACC |
C |
C |
C___7452300_10 |
|
|
thyroid
hormone receptor associated protein 4|colony stimulating factor 3
(granulocyte)|thyroid hormone receptor-associated protein (100 kDa) |
THRAP4|CSF3|TRAP100 |
|
17 |
38547905 |
0.1 |
0.1 |
0.11 |
0.27 |
hCV7452300 |
GGGTGGCCAAGGTCGTGCTGGCATTCTGGGCACCACAGCC[G/A]GGCCTGTGTATGGGCCCTGTCCATGCTGTCAGCCCCCAGC |
A |
A |
C___1385663_10 |
|
|
thyroid
hormone receptor associated protein 4|colony stimulating factor 3
(granulocyte)|thyroid hormone receptor-associated protein (100 kDa) |
THRAP4|CSF3|TRAP100 |
|
17 |
38548106 |
|
|
0.43 |
0.25 |
hCV1385663 |
CCTTCGCCTCTGCTTTCCAGCGCCGGGCAGGAGGGGTCCT[G/A]GTTGCCTCCCATCTGCAGAGCTTCCTGGAGGTGTCGTACC |
A |
A |
C___1385653_1_ |
rs2302777 |
IMS-JST059235 |
thyroid
hormone receptor associated protein 4|colony stimulating factor 3
(granulocyte)|thyroid hormone receptor-associated protein (100 kDa) |
THRAP4|CSF3|TRAP100 |
Silent
Mutation |
17 |
38554455 |
0.41 |
0.04 |
0.43 |
0.28 |
hCV1385653 |
AGCGGCTGTCCACCCAGCCCTTCTCCAGCACCTTGGCAAA[A/G]ATGTCCGTCAGCACCTCTTTGATGGGCCGCTTGGGGGGCA |
G |
G |
C__11616787_10 |
|
|
thyroid
hormone receptor associated protein 4|thyroid hormone receptor-associated
protein (100 kDa) |
THRAP4|TRAP100 |
Intron |
17 |
38567100 |
|
|
0.43 |
0.29 |
hCV11616787 |
AGGTCTCACATGAGGCAGACGGTGCATTCAGGACTCCTGC[T/G]CCTCTCTCCTCCAACCCTGGGTTCCAGACTCAGCATCCTC |
G |
G |
C____278122_10 |
|
|
thyroid
hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene
homolog, avian)|thyroid hormone receptor associated protein 4|thyroid hormone
receptor-associated protein (100 kDa) |
THRA|THRAP4|TRAP100 |
Intron |
17 |
38595867 |
0.28 |
0.4 |
0.16 |
0.35 |
hCV278122 |
GTCTAGTAGGGTGGTATCTCAAGCGATAGAGACCAAGAAC[A/G]TGTCATTGGGAATGCATGCTTTACACCATTACGCAGGAAC |
C |
C |
C____274192_1_ |
rs2234854 |
IMS-JST006889 |
nuclear
receptor subfamily 1, group D, member 1|thyroid hormone receptor, alpha
(erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian) |
NR1D1|THRA |
Intron |
17 |
38629455 |
0.27 |
0.21 |
0.39 |
0.46 |
hCV274192 |
GTATTAGCAGGAGAAAAAGGTGACCTGCCTGCCACACCTC[C/T]GGCAAGCACCTAGATTGGTCTGCCATGGGCGGGGTGGGAG |
C |
C |
C___1733686_1_ |
rs2269457 |
IMS-JST023626 |
nuclear
receptor subfamily 1, group D, member 1|thyroid hormone receptor, alpha
(erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian) |
NR1D1|THRA |
Intron |
17 |
38629652 |
0.26 |
0.49 |
0.4 |
0.49 |
hCV1733686 |
AGCTCAAGGTTGGTCAGGGTGAACCCAGCTCCTTGGAAAA[T/C]AGTTGCACAACAGATCAGCTCCCCCGGTTTCAGGGCTGAG |
T |
C |
C__15969874_10 |
rs2293007 |
|
cancer
susceptibility candidate 3|MLN51 protein |
CASC3|MLN51 |
|
17 |
38662051 |
|
|
0.49 |
0.47 |
hCV15969874 |
ACCAAGCCATTACCCAATCCCGGATGGGAAGTTGCTTCAC[G/A]TTTCTCTTAAGTTGTTACGCAGCATTGCCATGGCAGCAAA |
T |
C |
C__11614760_10 |
|
|
CDC6
cell division cycle 6 homolog (S. cerevisiae)|retinoic acid receptor, alpha |
CDC6|RARA |
|
17 |
38834026 |
0.1 |
0.49 |
0.31 |
0.44 |
hCV11614760 |
ACCCCAAGGAAGCTGATTAAGCTTCCATAGAGTGTTGGGT[A/G]TTGCCATGGAAAGAGCATAGACAAAATAAATTGTGTGTTT |
A |
A |
C___1318888_10 |
rs2715556 |
|
topoisomerase
(DNA) II alpha 170kDa |
TOP2A |
|
17 |
38910148 |
0.09 |
0.38 |
0.24 |
0.27 |
hCV1318888 |
GTGTCAGAAGGGAGTCTTATGCACTGTACAAGGTGTTACT[A/G]CCAAAAGCTGCAACCCAAGTAAAGGACCTGCTAATCTGCC |
A |
A |
C___1318889_10 |
rs477220 |
|
topoisomerase
(DNA) II alpha 170kDa |
TOP2A |
|
17 |
38914228 |
0.08 |
0.03 |
0.24 |
0.28 |
hCV1318889 |
ACTTACTGTTGAATCCTTTACCAATTAATGCAACTTTTGA[A/G]TCTTTTCTCAATAGCCATTCTTTTGTAATTCATAACTTAT |
G |
G |
C___2944234_10 |
rs558068 |
|
topoisomerase
(DNA) II alpha 170kDa |
TOP2A |
Intron |
17 |
38936875 |
0.08 |
0.02 |
0.24 |
0.27 |
hCV2944234 |
TAGATGTTGATTAGAGATGATGAATAAAGCTCCTATTTAA[C/G]TAATTTATTTTCATGGCAAAAAACAATGAAATTAAATTAA |
C |
C |
C___1318906_10 |
rs632224 |
|
insulin-like
growth factor binding protein 4 |
IGFBP4 |
|
17 |
38966155 |
0.31 |
0.35 |
0.41 |
0.38 |
hCV1318906 |
CTAAGGGGAAGGTGGCACTTTTTTCCTCAGGGTTGGGGAA[G/A]CAGGACTCAGGGCCTGGAGGCCCTCTAGGGAATGTGGACA |
A |
G |
C___2165278_10 |
rs538399 |
|
insulin-like
growth factor binding protein 4 |
IGFBP4 |
Intron |
17 |
38983830 |
|
|
0.28 |
0.32 |
hCV2165278 |
CCTAGCAACCCTGACAACCTCTGGCTCCCAACACTCTCTC[A/G]TTCACTCTACTCTATTCGTATGAGTAATTCCTCCTGTCAC |
G |
G |
C___1318921_1_ |
rs1668339 |
IMS-JST042075 |
insulin-like
growth factor binding protein 4 |
IGFBP4 |
|
17 |
38989147 |
0.24 |
0.46 |
0.27 |
0.33 |
hCV1318921 |
CCACTAAACCTGGATGGACTTGAGAACTGAAGTCCTTGAG[C/T]GCTCTGTCCTGCCTCCTGGAGACATGTCATTCCCTCCCAC |
C |
C |
C___1318954_1_ |
rs2290206 |
IMS-JST042077 |
C-terminal
tensin-like |
CTEN |
Intron |
17 |
39014157 |
0.24 |
0.16 |
0.31 |
0.45 |
hCV1318954 |
GAGTCACCTTTTGTCCCCAGGAAGTCCTTTGTACTGTCAA[A/G]TCTCCACCATTCTTGCTGTGGTTCCTACTTCCTCGGGAGG |
G |
G |
C___2567901_10 |
rs3136697 |
|
chemokine
(C-C motif) receptor 7 |
CCR7 |
|
17 |
39078687 |
0.01 |
0.19 |
0.06 |
0.05 |
hCV2567901 |
TTCAGTCTTTACACGTGGTCAGGTTTCTGCTTCAGTCACT[T/C]GAGTGCAGTTTCATAAACCAAATGAGATCAATGAGCTTGT |
C |
C |
C__15883401_10 |
rs2290065 |
|
chemokine
(C-C motif) receptor 7 |
CCR7 |
Intron |
17 |
39089525 |
0.1 |
0 |
0.21 |
0.2 |
hCV15883401 |
|
#N/A |
#N/A |
C___2567939_10 |
rs2315019 |
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
e, member 1 |
SMARCE1 |
|
17 |
39149571 |
0.09 |
0.01 |
0.44 |
0.22 |
hCV2567939 |
GAAAAGCTCAGGAGGCAGGTGCCGGATGGATTGAGCAGTT[A/G]CTGTCCCAGGTGGAAGATATCATGTCACCCGGACACCATC |
A |
A |
C___7571606_10 |
rs1474454 |
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
e, member 1 |
SMARCE1 |
Intron |
17 |
39164646 |
0.42 |
0.42 |
0.38 |
0.48 |
hCV7571606 |
CTTGCAGCTAAAGCTTCTAACCTTTTGCACATCATAGCAG[C/T]ATACAGAGAAACTATTAATGTTTATACAGCACACTAGATA |
C |
T |
C___2599851_1_ |
rs3752026 |
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
e, member 1|hypothetical protein MGC45562 |
SMARCE1|MGC45562 |
|
17 |
39177726 |
0.33 |
0.21 |
0.31 |
0.27 |
hCV2599851 |
CCTGGAGGGGCCCTCCCCGACTCCGGTCTTGCTTTCCTTT[C/A]GGCTGTGGGTCAGAGTCTACACTTCACTAAACCTGGGATG |
A |
A |
C____343809_10 |
rs1526603 |
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
e, member 1|hypothetical protein MGC45562 |
SMARCE1|MGC45562 |
|
17 |
39178433 |
|
|
0.32 |
0.23 |
hCV343809 |
TTGGTTTACCAGATGGAATGAGTAGCCTCTTCTTTGGATA[T/C]ATAAACACCCGATGGATATTGTGGGTCACTGTGGAGGGAG |
T |
T |
C___2599856_10 |
|
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
e, member 1|hypothetical protein MGC45562 |
SMARCE1|MGC45562 |
|
17 |
39181026 |
0.43 |
0.34 |
0.38 |
0.49 |
hCV2599856 |
AAGATTATGAACCAACCACTGAGCCATGGAGTTTGTAGTA[T/C]GTTCTTTTGAAGCTTTTATAATGGATTTTTTTTTTCTTAA |
C |
T |
C___2599864_10 |
|
|
hypothetical
protein MGC45562 |
MGC45562 |
Intron |
17 |
39193406 |
0.41 |
0.38 |
0.38 |
0.49 |
hCV2599864 |
ACCAGTGACTTTGCTTAATCTAAGATGTTGATCATTCTTT[G/A]TGAAGGCTGAAAATGTTATCTAGAGGTGAAATTTACAATG |
G |
G |
C____340533_10 |
|
|
hypothetical
protein MGC45562 |
MGC45562 |
|
17 |
39197801 |
0.32 |
0.16 |
0.3 |
0.28 |
hCV340533 |
CATATTGTCCTTAGTGTCATCTGTCCAAGCTGTGTTCACT[G/A]AGACAGTCATTATTCTTCCCATCTGTCCCATTATCATTGG |
G |
G |
C__11876205_10 |
|
|
hypothetical
protein MGC45562 |
MGC45562 |
|
17 |
39203900 |
|
|
0.37 |
0.49 |
hCV11876205 |
AGGGCTTTCTCTCAACGTTGGCTCTGGCTCACGGTCCCTC[A/G]CACCATGAAGGACACAGAAGGAACCAGACCCTGACCCTGC |
A |
A |
C___7571584_10 |
rs874889 |
|
keratin
24|hypothetical protein FLJ20261 |
KRT24|FLJ20261 |
Mis-sense
Mutation |
17 |
39230611 |
0.4 |
0.26 |
0.36 |
0.5 |
hCV7571584 |
TCCTCAGGTAGGCTAGCTCCTCGGTGAAACTCTCAATCTG[A/C]ATCTCCAGGTCAGAGCGGGTCATAGTCAGGTCATCCAGGA |
C |
A |
C___2277978_10 |
rs726849 |
|
|
|
|
17 |
39248753 |
0.4 |
0.18 |
0.37 |
0.49 |
hCV2277978 |
TCAGTATTCAACATATGAACCCTGAAACATATATTTTGTA[T/C]GGTGAGGGTGTCTCCAAATGAACCACTTAATAGAGATTTA |
C |
C |
C___2599985_10 |
|
|
keratin
25B |
KRT25B |
Intron |
17 |
39294755 |
|
|
0.36 |
0.31 |
hCV2599985 |
CTATAGTTCTGCAATTGAAAGTGCTTCTAACCAGACTTAA[G/T]CTAACTCCATACCATTGAAATATGGCCTTTGTCATCATGG |
T |
T |
C___2599991_10 |
rs719866 |
|
keratin
25B|keratin 25C |
KRT25B|KRT25C |
|
17 |
39301708 |
|
|
0.19 |
0.15 |
hCV2599991 |
AATTTACTTGCATCCTAATTGTTGTTTTTCACAATTGGGT[A/G]ATTTTTAACAGCGTCCAGTCTGTAGGTGGAAAGGTGCCCC |
A |
A |
C___2600015_10 |
rs1558282 |
|
keratin
25D |
KRT25D |
Intron |
17 |
39324345 |
|
|
0.42 |
0.4 |
hCV2600015 |
AGATTTATTAAGAGAAGATGCAAGGCTCTGCCTCTTTCAT[G/T]ACATTTTCTAGGGTAGTTAGGCCCAAGTATTTACCTAGTA |
G |
G |
C____147716_10 |
|
|
keratin
25D |
KRT25D |
|
17 |
39330167 |
0.37 |
0.26 |
0.46 |
0.35 |
hCV147716 |
AGGTTGAAATGAAACAAGGTGGTCAATTACAAGGTTGGAA[C/T]AATGGTCCAGGTGAGAAGGATGAAGGCAGTGGGGATGCAG |
C |
C |
C___2557991_10 |
rs2469821 |
|
keratin
10 (epidermolytic hyperkeratosis; keratosis palmaris et
plantaris)|hypothetical protein MGC21518|LOC147184 |
KRT10|MGC21518|LOC147184 |
Intron |
17 |
39356427 |
0.2 |
0.12 |
0.07 |
0.08 |
hCV2557991 |
CAAGTAAAATCCGCTTTTGAAGTTTCTAGCTGAAAATTCT[G/A]TTTGCAAGTTTCTTTTTCTGATTGAGATATAATACATATA |
G |
G |
C___7571542_1_ |
rs10558 |
IMS-JST011504 |
hypothetical
protein MGC21518|LOC147184 |
MGC21518|LOC147184 |
Mis-sense
Mutation |
17 |
39364168 |
0.14 |
0.45 |
0.45 |
0.38 |
hCV7571542 |
TTCTTCCTGGCTCTCCCTTGAGTTATTTTCCTTTCTTCGC[C/T]ATCTTGGGACTCTTCTTTGTGCTTGCGGACATCGGTTGAG |
C |
C |
C___2557971_10 |
|
|
keratin
12 (Meesmann corneal dystrophy) |
KRT12 |
|
17 |
39383966 |
0.12 |
0.36 |
0.45 |
0.35 |
hCV2557971 |
TTTATTTACAGGTCTGCTTCTAAATTGCGTATTTGTTCCA[C/T]CATTTTGAAGAAGAGTTGCATTTCATTAAGAATATGTACA |
C |
C |
C___2557957_10 |
rs3760333 |
|
keratin
12 (Meesmann corneal dystrophy)|keratin 20 |
KRT12|KRT20 |
|
17 |
39397040 |
0.12 |
0.38 |
0.49 |
0.4 |
hCV2557957 |
TATGCTTTTTTAAGTTCTTCCCTGATCTTTTCTGTTTGTT[T/C]CCTTTGGAAAATCCAGTGTAAACCATTTGTTTCCTTTGGA |
T |
C |
C___2557853_1_ |
rs2269861 |
IMS-JST024188 |
keratin
23 (histone deacetylase inducible) |
KRT23 |
|
17 |
39452104 |
0.39 |
0.27 |
0.41 |
0.25 |
hCV2557853 |
TGAAACCCTGAGGTGCTGTCTTGCCTTATGATATTAAAAA[G/A]AGACACGATGCAGCTAGTGCGGAGTTTTATTGGCTACAAA |
A |
A |
C___2263180_10 |
rs731056 |
|
keratin
23 (histone deacetylase inducible) |
KRT23 |
|
17 |
39453282 |
0.4 |
0.49 |
0.34 |
0.24 |
hCV2263180 |
TAATCAGAAAGTGCCACTTGTCCCAGACTACAGTCTCCTG[C/G]AACTTTTCTGTGAGATATTAAAGGTAATCTGAGAAAGCAT |
C |
C |
C___2263179_1_ |
rs731057 |
|
keratin
23 (histone deacetylase inducible) |
KRT23 |
|
17 |
39453558 |
0.15 |
0.15 |
0.24 |
0.39 |
hCV2263179 |
TGTTCGTAATACACTATTCAAATCTCATGGAACACGAGTG[C/T]TCAACAGAATCATCTGAGAAATGAAATCATGAAATCATTG |
C |
C |
C__15877701_10 |
rs2269860 |
|
keratin
23 (histone deacetylase inducible) |
KRT23 |
|
17 |
39454711 |
0.3 |
0.43 |
0.5 |
0.39 |
hCV15877701 |
|
#N/A |
#N/A |
C___2557836_10 |
rs3760337 |
|
keratin
23 (histone deacetylase inducible) |
KRT23 |
|
17 |
39466738 |
0.22 |
0.47 |
0.36 |
0.26 |
hCV2557836 |
CAAAGGACTCGCTCTTAAGAACAAACCCTCAATTATAGAT[A/G]TAATTAATTAATGAATGACCGAACCTTCCACTTCCAGGGT |
A |
A |
C___2683326_10 |
rs1510069 |
|
hypothetical
protein FLJ36600|keratin associated protein 3-3 |
FLJ36600|KRTAP3-3 |
Mis-sense
Mutation |
17 |
39513582 |
0.33 |
0.41 |
0.24 |
0.13 |
hCV2683326 |
GATAGGAAGCTTGGAGTCTGACATCGGGATGTAGCACAGG[C/T]ACCGGGGAGACAAGCTGTTTCCACGGAGCAGCTTGAGGCA |
C |
C |
C___2683323_10 |
rs2111051 |
|
hypothetical
protein FLJ36600|keratin associated protein 3-3 |
FLJ36600|KRTAP3-3 |
Intron |
17 |
39514838 |
0.23 |
0.34 |
0.2 |
0.11 |
hCV2683323 |
TTGTGAAGGATAATCTATTTCACTTTGCTTGGTTTTAGTC[G/A]TTACATTTATTTCATTTTCAAAGGTGCATAGAGAAAATTG |
A |
A |
C___2683307_10 |
|
|
hypothetical
protein FLJ36600|keratin associated protein 3-2|keratin associated protein
3-3 |
FLJ36600|KRTAP3-2|KRTAP3-3 |
|
17 |
39523608 |
0.49 |
0.25 |
0.36 |
0.43 |
hCV2683307 |
TCTGAGGTGTGAATATCTCTCCTTTCTCTGGGGCTCTTAT[G/A]TACCCTCTCCACTGGGAGTTGGTCCAGCCAAGAGGCTTCT |
G |
G |
C___2683289_10 |
rs4429346 |
|
keratin
associated protein 3-1|keratin associated protein 3-2 |
KRTAP3-1|KRTAP3-2 |
|
17 |
39536171 |
0.33 |
0.07 |
0.1 |
0.07 |
hCV2683289 |
GTATGAAAACATGAAAATTCTTTGTTTTTGACTAGAAAAA[C/A]GGTAACTTGGCATGGTAACAAAGGTTATTCTATAGTAATC |
C |
C |
C__11887824_10 |
|
|
keratin
associated protein 1-5|keratin associated protein 3-1 |
KRTAP1-5|KRTAP3-1 |
|
17 |
39552101 |
0.44 |
0.41 |
0.47 |
0.5 |
hCV11887824 |
CATCAGTAAACATAGGCCATGGTTGATTTCAAGTTTAAAC[C/A]AACAAATCAAATAATTCTTTGTACAAAAAATTTACATCCA |
A |
A |
C___2683271_10 |
|
|
keratin
associated protein 1-3|keratin associated protein 1-5|keratin associated
protein 3-1 |
KRTAP1-3|KRTAP1-5|KRTAP3-1 |
|
17 |
39554699 |
0.23 |
0.36 |
0.24 |
0.28 |
hCV2683271 |
GATGTTATGTGAAGCAAAGTTCGCATGATGTGTACCTGGC[A/G]CATGCACAGCATATGGTACTAACAAGGCCACGCTGGTTCA |
G |
G |
C___2683256_10 |
|
|
keratin
associated protein 1-1|keratin associated protein 1-3|keratin associated
protein 1-5 |
KRTAP1-1|KRTAP1-3|KRTAP1-5 |
|
17 |
39560090 |
0.23 |
0.43 |
0.43 |
0.48 |
hCV2683256 |
AGGATCCTCAGAGCTCTATCTAATATTCTTGCCTTCAGTA[A/G]TAGTGAATGTACAAATTGCTAACTAAAATCTTTAATGACT |
G |
G |
C___2683250_10 |
|
|
keratin
associated protein 1-1|keratin associated protein 1-3|keratin associated
protein 1-5 |
KRTAP1-1|KRTAP1-3|KRTAP1-5 |
|
17 |
39563135 |
0.46 |
0.42 |
0.47 |
0.5 |
hCV2683250 |
AACAGAGCCTTTGCCATTTCTGAGGCCCTAAATAACTACA[C/T]TTACTCTATGTTTTTATGGTCATTAACCTCCACTGGACCT |
T |
C |
C___1549773_10 |
rs349774 |
|
keratin
associated protein 2-4 |
KRTAP2-4 |
|
17 |
39589703 |
0.03 |
0.44 |
0.22 |
0.25 |
hCV1549773 |
TCCCTAAATCACTAAAGAATGCTTTGTTTTCTACCTGTCT[A/G]CTTTTTCCCTAGAACGGAATACCTGGTCATGTATATCATC |
G |
G |
C___1123685_10 |
|
|
keratin
associated protein 2-4 |
KRTAP2-4 |
|
17 |
39603304 |
0.38 |
0.4 |
0.17 |
0.26 |
hCV1123685 |
TATTCATCCACTCATGCTCCATTAAAGCTCCAATTGCAGA[A/G]TTTGCATGCAGGTCTACCTATGAGACATGCAAAGGTTAGG |
A |
A |
C___1123758_10 |
rs2173202 |
|
keratin
associated protein 4-7 |
KRTAP4-7 |
|
17 |
39608400 |
|
|
0.34 |
0.5 |
hCV1123758 |
ACCTAAGTCTTAAAGAACAAGTAGAATGGAGGTTCCTGCA[T/C]AGTCTGTAGAACAGAATGAGAGAGTTCTCACCATTGTTGA |
C |
C |
C___9502620_10 |
rs440255 |
|
keratin
associated protein 4-12|keratin associated protein 4-14 |
KRTAP4-12|KRTAP4-14 |
|
17 |
39654377 |
0.02 |
0.36 |
0.36 |
0.36 |
hCV9502620 |
AAGTGTTATTGAAAGTAGATTTTCTCATACTCGAAAGCTG[C/T]TTTTTCTCACAATGTATGTTGGAGATATTTTGCTTGATAC |
T |
T |
C___2655507_20 |
|
|
keratin
associated protein 4-13|keratin associated protein 4-4|keratin associated
protein 4-5 |
KRTAP4-13|KRTAP4-4|KRTAP4-5 |
|
17 |
39686470 |
|
|
0.09 |
0.17 |
hCV2655507 |
GGGGAGCATGCTTTTACTTGCCAATCTCATTGAATATTTA[T/C]GACATCCTTACTATATTTTGTGGCTATTGTGATCATTTCC |
T |
T |
C___2655343_10 |
rs1001191 |
|
|
|
|
17 |
39831641 |
|
|
0.4 |
0.28 |
hCV2655343 |
GGCATGTAGAGGGCTGATTGGCAAGGCTTGAAAATATAGC[T/A]GATGGGTTGATAATAAGTTGATTTACAGGGCTGGCCTTCA |
T |
T |
C___2655342_10 |
rs1005197 |
|
|
|
|
17 |
39831930 |
|
|
0.42 |
0.31 |
hCV2655342 |
GGCAGGGACTGGCATCGCAGCACTTTTCCTGACAACAAGT[A/G]GATTCCGAGCAGGATGGCTGACATGAGCTAACCAGACAAG |
A |
A |
C___2655340_10 |
rs1005196 |
|
|
|
|
17 |
39832332 |
0.17 |
0.47 |
0.42 |
0.29 |
hCV2655340 |
GAAGTTGCAAGCTCAGTATACCTGCATTGGAAAGACATCC[G/A]ATACAGAGGGGCTTTTATAGTCCTTCACTAGGGGTGTTGG |
G |
G |
C___2554463_1_ |
rs2074287 |
IMS-JST001056 |
keratin
associated protein 17-1 |
KRTAP17-1 |
|
17 |
39836984 |
0.1 |
0.2 |
0.4 |
0.28 |
hCV2554463 |
AGTGATCAGGATACTGACATTTCTGATGAGTTCTTTGAGG[T/G]GTAAGCCGATTGTGAGTAACAATGCAGAAAGAAAGAGCTC |
T |
T |
C___2554461_1_ |
rs2074285 |
IMS-JST001054 |
keratin
associated protein 17-1 |
KRTAP17-1 |
|
17 |
39837652 |
0.22 |
0.44 |
0.47 |
0.34 |
hCV2554461 |
GGAGGTAGATGGGCAGGAAACTGGCTCAGGGCAGACAGAA[C/G]GACAGCGCTTGACTACATAGCAAGTAGGTTGGCATGGACT |
C |
C |
C___2554448_10 |
|
|
keratin
associated protein 17-1 |
KRTAP17-1 |
|
17 |
39847911 |
0.17 |
0.37 |
0.42 |
0.32 |
hCV2554448 |
TCCATCTAGCCGCCTGGATGGGGTAATGAGAGGATGTAGA[T/C]GTAGAGGATGTAGTTCTTTTGTGGACTAAAAGAACTCTAA |
T |
T |
C___2554413_10 |
|
|
keratin,
hair, acidic, 3A|keratin, hair, acidic, 3B |
KRTHA3A|KRTHA3B |
|
17 |
39883761 |
0.24 |
0.47 |
0.48 |
0.36 |
hCV2554413 |
AATAAAGTCTTTGTTGTGATCGGCATTCATGCCCTTGTGA[C/T]ATCTGCTGACTTTGTCCATTCCAAAGGTGAGCTACTAAGA |
C |
C |
C__15877642_10 |
rs2269820 |
|
keratin,
hair, acidic, 1 |
KRTHA1 |
UTR
3 |
17 |
39923183 |
0.17 |
0.04 |
0.09 |
0.14 |
hCV15877642 |
|
#N/A |
#N/A |
C___7479434_10 |
rs739682 |
|
keratin,
hair, acidic, 1 |
KRTHA1 |
Intron |
17 |
39925709 |
|
|
0.46 |
0.31 |
hCV7479434 |
GGAACATGAACAGGTCTTATCTCTCTCCAATTTTTCTCTT[G/A]CCGTGATGTTTTCAAAGGAAACCCTCAGTCTTGTACTCAT |
G |
G |
C___7479427_1_ |
rs1544368 |
|
keratin,
hair, acidic, 7 |
KRTHA7 |
|
17 |
39954463 |
0.46 |
0.33 |
0.45 |
0.36 |
hCV7479427 |
TTGAAGAGAAAATATCAGTTAATAAAACCAATGCATCTAC[C/T]GATATTTGACGATTGAGAGGCGCCTTTTTTTCTTTCTTCT |
C |
C |
C__11939263_10 |
rs2057654 |
|
keratin,
hair, acidic, 7|keratin, hair, acidic, 8 |
KRTHA7|KRTHA8 |
|
17 |
39958385 |
0.44 |
0.34 |
0.46 |
0.37 |
hCV11939263 |
AACCCTCTCTTGACCCTATCCTCTGGCAGGATTTTATCCC[G/A]TTGGCTAAAATCATGGTTCCTTCTGTCTCAGAACATATGA |
G |
G |
C__16261410_10 |
rs2071565 |
|
keratin,
hair, acidic, 2 |
KRTHA2 |
Intron |
17 |
39991885 |
|
|
0.33 |
0.28 |
hCV16261410 |
|
#N/A |
#N/A |
C__11939312_10 |
rs1902222 |
|
keratin
13|keratin, hair, acidic, 6 |
KRT13|KRTHA6 |
|
17 |
40023115 |
0.33 |
0.44 |
0.27 |
0.42 |
hCV11939312 |
ACATGACTAAATTTTCCTTGGAACGAAGAATGTGTTCAAG[T/C]GACAAAGCACCTGGGAGCCCTGGCCCCTCCCCTGAAAAGC |
C |
C |
C__11939315_10 |
rs1902220 |
|
keratin
13|keratin, hair, acidic, 6 |
KRT13|KRTHA6 |
|
17 |
40023241 |
0.31 |
0.4 |
0.26 |
0.38 |
hCV11939315 |
GCCAAATCCACTGTCAACTTACATTAGATTCTAGTGCAGA[T/C]ATGCAACAACAGGTACACAAAGTTGAAGAAAGCCTCACAG |
T |
T |
C__11885725_10 |
|
|
keratin
13|keratin, hair, acidic, 6 |
KRT13|KRTHA6 |
|
17 |
40023969 |
0.34 |
0.33 |
0.27 |
0.41 |
hCV11885725 |
CCTCCTTCCCTGATGGCCTGTCACCATGGCTGGCTGTTCT[T/C]AGGGTCAGACACAGAGGGCTTCCCTTGGAGAATCGTGCCT |
T |
T |
C___1842160_10 |
|
|
gastrin|huntingtin-associated
protein 1 (neuroan 1) |
GAS|HAP1 |
Silent
Mutation |
17 |
40244865 |
0.1 |
0.3 |
0.08 |
0.1 |
hCV1842160 |
GCTAGTCCCTTCTCCCCTTTGCAGACGAGATGCAGCGACT[G/A]TGTGTGTATGTGCTGATCTTTGCACTGGCTCTGGCCGCCT |
G |
G |
C__25594325_10 |
rs4796603 |
|
huntingtin-associated
protein 1 (neuroan 1) |
HAP1 |
|
17 |
40263880 |
|
|
0.09 |
0.07 |
hCV25594325 |
GCCGGGCGAGCTCCGGTGCGGGCTTCCGAGAGGAACTGGG[T/A]TCCAGAGGTGGCTCGGGATCCTACTCTCTGTCCAGTGCCC |
A |
A |
C____309882_10 |
|
|
junction
plakoglobin |
JUP |
Intron |
17 |
40307242 |
0.36 |
0.22 |
0.49 |
0.4 |
hCV309882 |
ACCCGGGTAGGAAAATGAAGGGGATTTGTAGGAGAGGGAA[G/T]TTGCCACGGCCAAGTGGCTCGACCCAGGGACCTCTATGCT |
G |
G |
C____465182_10 |
|
|
junction
plakoglobin |
JUP |
Intron |
17 |
40310869 |
0.19 |
0.4 |
0.48 |
0.42 |
hCV465182 |
TTCCTCTGCCAGGCCTGAAGGGCAAGCTCATGGACCACTC[T/C]CCTTTGCTCAGCCTCCTGGCATCTTGGCCTTTGGGGCCAG |
G |
G |
C___9256966_10 |
|
|
junction
plakoglobin |
JUP |
Intron |
17 |
40315659 |
0.37 |
0.49 |
0.47 |
0.48 |
hCV9256966 |
CTCGCCCTGGGCTGGCGGGGGAGACTTTGCTCTGCTTCGA[T/C]TGCGTCCCAGGGCTCACGCTGCAGTCAGGAATTTACCGTT |
A |
G |
C___9256635_1_ |
rs13412 |
IMS-JST013740 |
FK506
binding protein 10, 65 kDa|synaptonemal complex protein SC65 |
FKBP10|SC65 |
Mis-sense
Mutation |
17 |
40340607 |
0.36 |
0.31 |
0.37 |
0.47 |
hCV9256635 |
TAGGTCCGTGAGGGACTCGTCGGCGACGTCCAGCATCCCC[C/T]GATAGTAGTTGAGATACTTGGCGGTCAGCTCGTGCTTCGG |
C |
C |
C___9256618_10 |
|
|
FK506
binding protein 10, 65 kDa|hypothetical protein MGC20781|synaptonemal complex
protein SC65 |
FKBP10|MGC20781|SC65 |
Intron |
17 |
40349189 |
0.06 |
0.09 |
0.14 |
0.1 |
hCV9256618 |
TAGGCCACCCCCTCCCACAGTGGGATTCCAGGCACCGCTC[A/G]GCCCCTCTCATCACAAAAACATGCATGCAGCTTACATCTG |
A |
A |
C___8731066_10 |
rs1529933 |
|
hypothetical
protein MGC20781|kelch-like 10 (Drosophila)|kelch-like 11
(Drosophila)|hypothetical protein FLJ10572 |
MGC20781|KLHL10|KLHL11|FLJ10572 |
Mis-sense
Mutation |
17 |
40371306 |
0.19 |
0.24 |
0.17 |
0.14 |
hCV8731066 |
ACACTGAAAAGAAGGTATACAACATCCCTGGCATTTCTCC[T/C]GACATGATGAAGCTAATCATTGAGTATGCATACACCCGGA |
C |
C |
C___9256795_10 |
|
|
ATP
citrate lyase |
ACLY |
Intron |
17 |
40425807 |
0.05 |
0.16 |
0.15 |
0.13 |
hCV9256795 |
TCCTTCCAAAATCTCTACCCCTTCCCAAGCTTGGAGCCAG[A/G]AACAGCCACACAGTGAGGAGAGGACTGAGTGGGGCGCGTA |
G |
G |
C___9256783_10 |
|
|
ATP
citrate lyase |
ACLY |
Intron |
17 |
40435884 |
|
|
0.16 |
0.12 |
hCV9256783 |
AATTCCCACACCAAAGTGACAGGACCCCACCCACCCAGGC[C/T]ACACACATGTTGATGCTGGGTAGACTGGGCTGGCATCCCT |
C |
C |
C__11613964_1_ |
rs2304497 |
IMS-JST061503 |
ATP
citrate lyase |
ACLY |
Mis-sense
Mutation |
17 |
40438939 |
0.02 |
0.1 |
0.03 |
0.07 |
hCV11613964 |
CCACCTCCCTACCGTCCCTCTCACTCAACTCTTTCTTGTC[T/G]TCAGGGGCGTGGACCAACAGGTGTTTTTTGATGTCCTCAG |
G |
G |
C__11631154_10 |
|
|
2',3'-cyclic
nucleotide 3' phosphodiesterase|hypothetical protein DKFZp434H0115 |
CNP|DKFZP434H0115 |
Intron |
17 |
40488182 |
0.24 |
0.49 |
0.17 |
0.14 |
hCV11631154 |
CTCTGTGGTGGCTGGACCCCCTCAGAGGGGCTCTGTCTCC[A/G]CCCCCACATGCCCTTTGAGCTGCTCTGAGAAGCCACAGGA |
G |
G |
C__11618196_10 |
|
|
2',3'-cyclic
nucleotide 3' phosphodiesterase|DnaJ (Hsp40) homolog, subfamily C, member
7|hypothetical protein DKFZp434H0115 |
CNP|DNAJC7|DKFZP434H0115 |
Intron |
17 |
40496994 |
0.22 |
0.5 |
0.17 |
0.13 |
hCV11618196 |
GGTTGCTGGAGAGGTGATGCTTAGTGTCCGAGTGTTTTGC[A/G]CTGGGCCTCGGTGGTCCTGGTGGCGGATGTTGGTATGCCC |
G |
G |
C___7529903_10 |
|
|
DnaJ
(Hsp40) homolog, subfamily C, member 7 |
DNAJC7 |
|
17 |
40515467 |
0.08 |
0.25 |
0.08 |
0.13 |
hCV7529903 |
CAGCTAGCCTGACTGCATACCTAGCCACAGACTGTGCTTC[C/T]GGATAACGACCCAGCATTGCTAAACATTCTGCCTTGAGGA |
C |
C |
C__11613990_10 |
|
|
DnaJ
(Hsp40) homolog, subfamily C, member 7 |
DNAJC7 |
|
17 |
40524003 |
0.42 |
0.11 |
0.36 |
0.5 |
hCV11613990 |
GTAAATGAATTGACAATGACTGAAATGTATTTAGGTGGGT[A/T]TTGCCATAACATTCAGTATTTCTGGAATTGCCTTTAATTT |
T |
A |
C____335318_1_ |
rs2240011 |
IMS-JST011411 |
|
|
|
17 |
40566874 |
0.21 |
0.46 |
0.09 |
0.18 |
hCV335318 |
ACAGCACACAGCTGGGACCCAGGGTGACTGGTTGGGAGTT[A/G]GGAGTGAGTGTGCCTATCAGTTAATCACTGAGCTGGACAG |
C |
C |
C____478836_1_ |
rs2074158 |
|
GCN5
general control of amino-acid synthesis 5-like 2 (yeast)|likely ortholog of
mouse D11lgp2|RAB5C, member RAS oncogene family |
GCN5L2|LGP2|RAB5C |
Mis-sense
Mutation |
17 |
40630328 |
|
|
0.26 |
0.12 |
hCV478836 |
CCTGCCCTCCGCCTGCAGAGGGACCAGCAAGAAGTGATCC[G/A]GAAGTTCCAAGATGGAACCCTGAACCTTCTGGTGGCCACG |
C |
C |
C___2544243_1_ |
rs2074163 |
|
GCN5
general control of amino-acid synthesis 5-like 2 (yeast)|RAB5C, member RAS
oncogene family|likely ortholog of mouse D11lgp2|small heat shock protein B9 |
GCN5L2|RAB5C|LGP2|HspB9 |
Intron |
17 |
40644122 |
|
|
0.26 |
0.13 |
hCV2544243 |
GGCCTGGACACAGCCTCAGACTCCTTCCCTGCACAACTCT[T/C]CAAGAAACCAGACCTTAAGCTTGAAGTGAAACCAATTTCT |
A |
A |
C___2544220_10 |
|
|
RAB5C,
member RAS oncogene family|GCN5 general control of amino-acid synthesis
5-like 2 (yeast) |
RAB5C|GCN5L2 |
Intron |
17 |
40661443 |
0.28 |
0.38 |
0.26 |
0.13 |
hCV2544220 |
CCCTTTTGAGGAAGAGCTGTGTTCTTGAGCCTATGGGTAA[G/A]TCATCTCCCCAACTAATCGGAGCCTGGGAAGCATTTGCAA |
C |
C |
C__15961941_10 |
rs2272087 |
|
hypothetical
protein MGC16063|signal transducer and activator of transcription 5A|signal
transducer and activator of transcription 3 (acute-phase response factor) |
MGC16063|STAT5A|STAT3 |
Intron |
17 |
40832727 |
0.17 |
0.2 |
0.33 |
0.35 |
hCV15961941 |
|
#N/A |
#N/A |
C___7530684_1_ |
rs1135669 |
IMS-JST067171 |
hypothetical
protein MGC16063|signal transducer and activator of transcription 5A|signal
transducer and activator of transcription 3 (acute-phase response factor) |
MGC16063|STAT5A|STAT3 |
Silent
Mutation |
17 |
40832902 |
0.18 |
0.14 |
0.32 |
0.36 |
hCV7530684 |
ACTCAGAAATCGGGGGCATCACCATCGCCTGGAAGTTTGA[T/C]TCCCGTGAGTGCCCGTTTTGCCCACACTCCAGCCCCAAGG |
T |
T |
C___7530673_10 |
|
|
hypothetical
protein MGC16063|signal transducer and activator of transcription 5A|signal
transducer and activator of transcription 3 (acute-phase response factor) |
MGC16063|STAT5A|STAT3 |
UTR
3 |
17 |
40838781 |
|
|
0.33 |
0.36 |
hCV7530673 |
GGACAGGAAGCGGGCAGGGCCTGAGGACCCTGTTCTTTAA[T/C]GGGCCACAACAGGGCTCAGCTCCTCTCAGAACTTTTGCTA |
C |
C |
C___1795285_1_ |
|
|
hypothetical
protein MGC16063|signal transducer and activator of transcription 5A|signal
transducer and activator of transcription 3 (acute-phase response factor) |
MGC16063|STAT5A|STAT3 |
UTR
3 |
17 |
40839257 |
0.39 |
0.15 |
0.37 |
0.38 |
hCV1795285 |
TCCAGCACGTGCTAGGTGTTCCCATACGCACAGGAGAGGC[A/G]AGCTAGCCAGCCAAGGCGGGCAGGCGGGGAGGCCCTCTAG |
G |
G |
C___3140302_1_ |
rs2293152 |
IMS-JST046157 |
hypothetical
protein MGC16063|signal transducer and activator of transcription 3
(acute-phase response factor) |
MGC16063|STAT3 |
Intron |
17 |
40854694 |
0.36 |
0.14 |
0.48 |
0.44 |
hCV3140302 |
AAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCC[C/G]GCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACAT |
G |
G |
C___7530575_10 |
|
|
hypothetical
protein MGC16063|signal transducer and activator of transcription 3
(acute-phase response factor) |
MGC16063|STAT3 |
Intron |
17 |
40866052 |
0.4 |
0.23 |
0.44 |
0.39 |
hCV7530575 |
TGCCTCCCTCCTCTCACTCTTGCCTTCCTAGGGCCCACCA[C/T]AAGCAAGAGCAGCAGCCTGGTTTCTAGAAGCAGGTCTAGA |
C |
C |
C___3140282_10 |
rs744166 |
|
hypothetical
protein MGC16063|signal transducer and activator of transcription 3
(acute-phase response factor) |
MGC16063|STAT3 |
Intron |
17 |
40887366 |
0.47 |
0.38 |
0.44 |
0.36 |
hCV3140282 |
CACAGTCTCTAAAAACTGTTTGTTCTATAAATTACTGTCA[A/G]GCTCGATTCCCTCAAGACATTACAGCCACAGCAACTCAAA |
G |
G |
C___1952199_10 |
rs957971 |
|
hypothetical
protein MGC16063|signal transducer and activator of transcription 3
(acute-phase response factor) |
MGC16063|STAT3 |
Intron |
17 |
40893090 |
|
|
0.44 |
0.36 |
hCV1952199 |
AATCTAGAACACACTTTTAGCATAGAGAAAACTGAAGTAC[G/C]ATAGGAGGTTAATTCACTTCATATAACAGCATAAACTGCC |
C |
C |
C___1952182_10 |
|
|
hypothetical
protein MGC16063|signal transducer and activator of transcription 3
(acute-phase response factor) |
MGC16063|STAT3 |
Intron |
17 |
40907240 |
0.38 |
0.21 |
0.44 |
0.38 |
hCV1952182 |
TTAAGAACTTCTACTTATAGCTCCCTGAACACACAAGGCT[A/G]TTTTAAGCCTCTGCACCCTCATGTTCCTTCAGCCTTGAAT |
G |
G |
C___7529823_10 |
rs963986 |
|
polymerase
I and transcript release factor |
PTRF |
Intron |
17 |
40934744 |
|
|
0.39 |
0.33 |
hCV7529823 |
CTTGGTGGAAGGTCAGGGGACAGGAGACGAAACAACTTGA[C/G]CTGAATCCTGGGATGATGTCCAATAGGCTGGCTCTGGAGA |
C |
C |
C___1952150_1_ |
|
|
polymerase
I and transcript release factor |
PTRF |
Intron |
17 |
40934844 |
0.33 |
0.2 |
0.42 |
0.35 |
hCV1952150 |
TTTCCTCTCCACTCCAGGCCAGGTTTCCCCCATGACTCAC[A/G]GCCTTGGAGTGCTGTCTTGGTCCCACCCATCTGCTTGCTG |
A |
A |
C___1952149_1_ |
|
|
polymerase
I and transcript release factor |
PTRF |
Intron |
17 |
40934917 |
0.3 |
0.37 |
0.41 |
0.35 |
hCV1952149 |
GCTTGCTGGTACAACCACCACAAACACAATCCAAAATCAT[G/C]TCCCTCCACCCTGGGCACACAGGCCAGGCACCCTTGTCCC |
C |
C |
C___1952140_10 |
|
|
polymerase
I and transcript release factor |
PTRF |
Intron |
17 |
40939816 |
0.24 |
0.22 |
0.11 |
0.15 |
hCV1952140 |
TGCGGCAGCCCCCAACTCTCTCTCCTGAGGGGCTGAGTTG[C/T]GGAAGACTATAGGCTTCTTGCTTTGAGCAATCAGATGCCA |
T |
T |
C___1952126_10 |
|
|
polymerase
I and transcript release factor |
PTRF |
|
17 |
40950745 |
0.23 |
0.2 |
0.1 |
0.17 |
hCV1952126 |
TGGGGACCCAGGGCCTCCTCAACCCAGACAGAGAACCCAC[A/C]AACTCAGAAAGGAGACCGACAGTGCAGGGACTGGGTTAGT |
C |
C |
C__11626701_20 |
rs1032070 |
IMS-JST064239 |
ATPase,
H+ transporting, lysosomal V0 subunit a isoform 1 |
ATP6V0A1 |
Intron |
17 |
40991416 |
0.21 |
0.19 |
0.3 |
0.3 |
hCV11626701 |
TTTTACCTAATTTGCCTCCATTCCAGTAATGTTGCAGCAA[T/C]GAGGGAGGAAGTTTTTATCCTTAGCTGGTGTGACTGGCCA |
T |
T |
C___7530541_1_ |
rs938672 |
IMS-JST011357 |
ATPase,
H+ transporting, lysosomal V0 subunit a isoform 1 |
ATP6V0A1 |
Intron |
17 |
41032381 |
0.1 |
0.33 |
0.12 |
0.17 |
hCV7530541 |
CCTTTACAGATAGAGCTGTACTTGTTGTGAGAATCTGTTC[A/G]TATTAAGGTTTTCATTCAAGCAGGATTCTCAATTAGTGTT |
G |
G |
C____587960_10 |
rs743592 |
|
ATPase,
H+ transporting, lysosomal V0 subunit a isoform 1|N-acetylglucosaminidase,
alpha- (Sanfilippo disease IIIB) |
ATP6V0A1|NAGLU |
|
17 |
41052792 |
0.12 |
0.21 |
0.47 |
0.47 |
hCV587960 |
GGCTAGCCAGGAGCAAAAGATGAGATGGGCTGGAGAGCAC[G/A]CAGAGAGCCCAGCCAACTTGCTTCACACACACTACTGGAA |
G |
G |
C__25641724_10 |
rs4792923 |
|
N-acetylglucosaminidase,
alpha- (Sanfilippo disease IIIB) |
NAGLU |
Intron |
17 |
41063283 |
0.23 |
0.19 |
0.3 |
0.29 |
hCV25641724 |
TCTGGCACTCTTGCTCCATGAAGCCTTCTAAGGCCTTCCT[G/C]TTGGGGGAAAGCCCCTTTGTGCCCCATCTCCTCACCCATG |
G |
G |
C__11419219_10 |
rs607740 |
|
N-acetylglucosaminidase,
alpha- (Sanfilippo disease IIIB)|hydroxysteroid (17-beta) dehydrogenase 1 |
NAGLU|HSD17B1 |
|
17 |
41072456 |
|
|
0.45 |
0.44 |
hCV11419219 |
GCTGAGGCGGGCTGGTTGGGCCTCTGTCCCCGCAGTGTGT[G/A]ACACAGGCCTGGGCCTGCTGGGGCCGCTGGGGGAGGACGC |
A |
A |
C___2350908_1_ |
rs615942 |
IMS-JST057083 |
GT198,
complete ORF|hydroxysteroid (17-beta) dehydrogenase 1|transcription
factor-like 4|bifunctional phosphopantetheine adenylyl transferase/dephospho
CoA kinase|nucleotide binding protein |
HUMGT198A|HSD17B1|TCFL4|DPCK|NBP |
Silent
Mutation |
17 |
41087969 |
0.48 |
0.39 |
0.49 |
0.48 |
hCV2350908 |
CAGCCGGGCATGAGCCTGGAGGGCCCGGCTCAGCCCCAGT[A/C]CAGCCCCGTGCAGGCCACGTTTGAGGTTCTTGATTTCATC |
A |
A |
C___2769191_1_ |
rs665268 |
IMS-JST045640 |
GT198,
complete ORF|hypothetical protein LOC162427|transcription factor-like
4|bifunctional phosphopantetheine adenylyl transferase/dephospho CoA
kinase|nucleotide binding protein |
HUMGT198A|LOC162427|TCFL4|DPCK|NBP |
Mis-sense
Mutation |
17 |
41095194 |
0.28 |
0.18 |
0.44 |
0.48 |
hCV2769191 |
CATGCTTTTAGGAACTATGAGCAGATTGTGAAGGCACACC[G/A]GGACAACCCCCATGAAGGGGAGGACCAGGTCTCTGACCAG |
G |
G |
C___1441455_10 |
|
|
tubulin,
gamma 2|tubulin, gamma 1 |
TUBG2|TUBG1 |
Intron |
17 |
41179009 |
|
|
0.49 |
0.47 |
hCV1441455 |
GAGAGAGAGAAGAAAACAAAATCTCTCGTCTGAGCATGAC[G/T]CTTGGCGGTGGTGCTTTCGCCAGCGCGTCTGCAGCGGTTC |
T |
T |
C___1441444_20 |
rs2292749 |
IMS-JST045633 |
hypothetical
protein FLJ21019|tubulin, gamma 2|tubulin, gamma 1 |
FLJ21019|TUBG2|TUBG1 |
IntronIntron |
17 |
41191749 |
0.29 |
0.18 |
0.45 |
0.49 |
hCV1441444 |
CTGGCCACCTTCATCATCTTCCCCAAGTTCACTCCTAACC[C/T]CCTGGCTCGCATTTTGGAGATTTTCATCTCTTTCAGCTCT |
T |
T |
C___1441438_10 |
rs3760384 |
|
G
protein-coupled receptor 2|contactin associated protein 1|hypothetical
protein FLJ21019 |
GPR2|CNTNAP1|FLJ21019 |
Intron |
17 |
41208616 |
0.5 |
0.47 |
0.49 |
0.49 |
hCV1441438 |
GGCTGAGGTTGGGTGCAAGGCCTGTATTTGGGGATGGTGC[C/A]GGTTTTGGGGGCCGAGTTGGATTGAGGCTAGGGTTGGAGC |
A |
A |
C___1441436_10 |
rs9766 |
|
contactin
associated protein 1|enhancer of zeste homolog 1 (Drosophila) |
CNTNAP1|EZH1 |
UTR
3 |
17 |
41226006 |
|
|
0.5 |
0.45 |
hCV1441436 |
GGGAGGAGCTTTCTGTCAGGAGTTGCTGGGTGCGGGGTAC[G/A]TGTGTGCCCTCCAGTGTGGTGAGTGAGAGCATGTGAGTGT |
A |
A |
C___1441435_10 |
|
|
contactin
associated protein 1|enhancer of zeste homolog 1 (Drosophila) |
CNTNAP1|EZH1 |
UTR
3 |
17 |
41226336 |
0.01 |
0.33 |
0.07 |
0.06 |
hCV1441435 |
GGCCCCATTCACATGAAATTCTTCTGTGTGAAACTCACTC[C/G]TCTGCCTCTCCCAGGAGATGAGACAGGACTGGAGGAGAAT |
C |
C |
C__15959277_10 |
rs2271027 |
|
enhancer
of zeste homolog 1 (Drosophila) |
EZH1 |
Intron |
17 |
41243967 |
|
|
0.07 |
0.07 |
hCV15959277 |
GTTGATAAGAGAATGGTAGATAACTAGAGTGGGTCCACCA[C/T]TGTAATTATGCTGGGTTGGGCAAATGTTGGAAAGTAAGGG |
C |
C |
C___1075621_10 |
rs752313 |
|
enhancer
of zeste homolog 1 (Drosophila) |
EZH1 |
|
17 |
41274989 |
|
|
0.46 |
0.47 |
hCV1075621 |
AACACTTAGAGGTGAAGGCAGCTCCAAAGCAGTTGAGATC[T/C]GGACATTACAGAGCCTGGAAACAGGGCTCAATTTTTGAAG |
T |
C |
C__15883310_10 |
rs2290041 |
|
HSPC009
protein|hypothetical protein FLJ40137|protein kinase, lysine deficient 4 |
HSPC009|FLJ40137|PRKWNK4 |
Mis-sense
Mutation |
17 |
41320485 |
|
|
0.07 |
0.06 |
hCV15883310 |
GCTCCTTTCCCAGTCTCCTCCAGCCCCTCCTAGTCCCCTC[C/T]CTAGCCTGCCCCTTCCCCCTCCCGTTGCTCCTGGTGGCCA |
T |
T |
C___3256885_10 |
rs2593595 |
|
glucose-6-phosphatase,
catalytic (glycogen storage disease type I, von Gierke disease) |
G6PC |
Intron |
17 |
41429410 |
0.09 |
0.2 |
0.21 |
0.1 |
hCV3256885 |
ATACTTTCCTGAATAGCACAGTAGTATTGGAAATCTGCCT[G/A]TTACAGAACCTGGATGGAGTCCAGAGAGGCACGGGCATCC |
G |
G |
C___1588447_1_ |
rs2271539 |
|
hypothetical
protein DKFZp761H0421|interferon-induced protein 35|ribosomal protein L27 |
DKFZp761H0421|IFI35|RPL27 |
Intron |
17 |
41524114 |
|
|
0.44 |
0.47 |
hCV1588447 |
CGGGCAGGCTTGGAATTCAAGGCCTGTTTCTGGGGCAGTA[G/A]CCAGTGAGCACGGTCAGGGTGAACGTGGGAGAGCTTTTGA |
G |
G |
C__11617231_10 |
|
|
hypothetical
protein DKFZp761H0421|interferon-induced protein 35|ribosomal protein L27 |
DKFZp761H0421|IFI35|RPL27 |
Intron |
17 |
41527982 |
0.16 |
0.33 |
0.16 |
0.1 |
hCV11617231 |
GGCCAAGGTCAAGTTTGAAGAGAGGTAAGTAGGCTTTGGT[C/A]GTGAATGGTGGAGTATGGTTTCACTATTTCCATTCCTTTC |
A |
A |
C___2287905_10 |
rs443759 |
|
interferon-induced
protein 35|vesicle amine transport protein 1 homolog (T californica) |
IFI35|VAT1 |
Intron |
17 |
41538899 |
0.17 |
0.35 |
0.09 |
0.03 |
hCV2287905 |
GGCCTCCTGCAGGGGAGAGGGTATAGGGTGTGCAAGATTA[T/C]GGTGCAGGGAGAGGAGAGGGCTTGATGCTAAAGGCCCACC |
C |
C |
C___3178698_1_ |
rs2298862 |
IMS-JST054035 |
ras
homolog gene family, member N|vesicle amine transport protein 1 homolog (T
californica) |
ARHN|VAT1 |
|
17 |
41549853 |
0.28 |
0.22 |
0.46 |
0.36 |
hCV3178698 |
CACGCTTCTCTGCTAGTCTAGGCCGGCGGTTAAGTCAATG[T/C]AACCGGAGACCCGGCTGCCCGTTGCCATGGGGACGGAAAG |
C |
C |
C___3178699_1_ |
rs2298861 |
IMS-JST054034 |
ras
homolog gene family, member N|vesicle amine transport protein 1 homolog (T
californica) |
ARHN|VAT1 |
|
17 |
41549996 |
0.27 |
0.21 |
0.46 |
0.36 |
hCV3178699 |
CCCTGCCAGGACATAGGCGGACGCGGGAGAGAAAACCAAA[A/G]AGGCTCCCTCCTTCCCCTTAGCATCTCTCTCCCGCCGTGT |
A |
A |
C___2615245_10 |
|
|
ras
homolog gene family, member N|vesicle amine transport protein 1 homolog (T
californica) |
ARHN|VAT1 |
|
17 |
41554462 |
|
|
0.46 |
0.35 |
hCV2615245 |
TTAGTTTTGTTGCTTTTTAAAAAAATCAATCTACCAATCT[T/C]TAGCAGTAAGAGGGAAAGTTAGACCTCAGCTGGGGAACTT |
C |
C |
C___3178665_10 |
|
|
breast
cancer 1, early onset|ras homolog gene family, member N |
BRCA1|ARHN |
|
17 |
41561507 |
0.3 |
0.25 |
0.46 |
0.35 |
hCV3178665 |
CCTGGGAGCACAGGGGAGGGGAGGCGGCTGCCCACCCTTC[A/G]ACACTATTACCCATCGGTCACTTGTGCTCTGTCTCCTCTC |
G |
G |
C__11621012_10 |
|
|
breast
cancer 1, early onset |
BRCA1 |
|
17 |
41568050 |
0.31 |
0.28 |
0.46 |
0.35 |
hCV11621012 |
AGGCTGTACTAGATGGATACTGCTTTTCCTATTAACCCAT[T/C]AGTGATGGGGTCAGAAGGCTGAGGCCTGGCTTACCCTCAA |
C |
C |
C___2615238_10 |
|
|
breast
cancer 1, early onset |
BRCA1 |
Intron |
17 |
41574867 |
0.26 |
0.19 |
0.46 |
0.34 |
hCV2615238 |
TGGGAAGATAATTCATCCAGTCAAAAAAATACATGTTATC[T/C]TGGTTAGAGACTCAGCAGGGAAAGGCTACATGCTGAGCTG |
T |
T |
C___2615230_10 |
|
|
breast
cancer 1, early onset |
BRCA1 |
Intron |
17 |
41579221 |
0.27 |
0.23 |
0.47 |
0.34 |
hCV2615230 |
CACCTCTACATATACATTTCTCTTCCAGAGAAAAATACTA[T/C]GGTGACATTTAGTATTTTCAGAATGTCATTACTTTGACCA |
C |
C |
C___2615220_10 |
|
|
breast
cancer 1, early onset |
BRCA1 |
Intron |
17 |
41588990 |
0.24 |
0.23 |
0.46 |
0.35 |
hCV2615220 |
TAACTCAGACTCAGCATCAGCAAAAACCTTAGGTGTTAAA[T/C]GTTAGGTGTAAAAATGCAATTCTGAGGTGTTAAAGGGAGG |
T |
T |
C__11621042_1_ |
rs2236762 |
IMS-JST017188 |
breast
cancer 1, early onset |
BRCA1 |
Intron |
17 |
41599840 |
0.3 |
0.27 |
0.46 |
0.33 |
hCV11621042 |
GTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCA[T/A]GACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATG |
T |
T |
C___3178677_1_ |
rs3737559 |
|
breast
cancer 1, early onset |
BRCA1 |
Intron |
17 |
41607469 |
|
|
0.1 |
0.09 |
hCV3178677 |
TAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTAC[T/C]CATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTC |
T |
T |
C___3178676_1_ |
|
|
breast
cancer 1, early onset |
BRCA1 |
Mis-sense
Mutation|Silent Mutation|UTR 3 |
17 |
41607635 |
0.27 |
0.2 |
0.46 |
0.36 |
hCV3178676 |
ATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGA[A/G]GAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGC |
G |
G |
C___3178696_10 |
|
|
breast
cancer 1, early onset |
BRCA1 |
Intron |
17 |
41611118 |
0.27 |
0.24 |
0.46 |
0.35 |
hCV3178696 |
ATTTCTAATGTTCCTACTACTACATAATAAGCCTAATCCA[A/G]ATACAAGCTGAAGTCTTAGCACAAATAGTGGCTTTATCAT |
A |
A |
C___2615180_10 |
rs799912 |
|
breast
cancer 1, early onset |
BRCA1 |
Intron |
17 |
41630299 |
|
|
0.46 |
0.35 |
hCV2615180 |
TATAATCAATACATCATTGACATCTGTATAAACCGTGTGA[C/T]GGCAGTGATTTAGTAACTTTTTGTCATTCATTTAAGCCTA |
C |
C |
C__11631183_10 |
rs2175957 |
|
breast
cancer 1, early onset|neighbor of BRCA1 gene 2 |
BRCA1|NBR2 |
Intron |
17 |
41659987 |
0.33 |
0.24 |
0.45 |
0.36 |
hCV11631183 |
GAAAGGGCGGCCCTCATACAGTTCAGGGTCATACCCCCAA[G/T]AGCTGGTTTTATATTTGAAAGCAGACACTGGGACTCTGAC |
G |
G |
C___9270454_10 |
|
|
membrane
component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125) |
M17S2 |
Intron |
17 |
41828575 |
0.15 |
0.13 |
0.12 |
0.08 |
hCV9270454 |
CTTGTCTCCTAATAGTAGGGAAAATGCTGGAGCCTTGACT[A/G]TAATGTAAACCATTCTCCCCAAAAGCTAGACATTTCCGTT |
G |
G |
C___9270354_10 |
rs3178342 |
|
hypothetical
protein MGC20235 |
MGC20235 |
|
17 |
41850762 |
0.29 |
0.23 |
0.47 |
0.33 |
hCV9270354 |
ACAGTCTGTGTCCCTATCTTACCTTGAGTTGTGAATACCC[A/G]GTGTTTCTGATGGGGCTAGATTGGCATGGGTTCATGAGAC |
G |
G |
C___1892964_10 |
|
|
|
|
|
17 |
41920310 |
|
|
0.45 |
0.35 |
hCV1892964 |
TATAAGGAAAGTATTGGTGGGTGGTATTACTTCTTTGCTT[C/T]TAACCGGATTGAGAATAAGGGAATGCGTATTGGGAAAGTA |
A |
A |
C__11618359_10 |
rs2061873 |
|
|
|
|
17 |
41930100 |
0.16 |
0.31 |
0.34 |
0.27 |
hCV11618359 |
TCCCGGGAGAAGCTCCACCCGCTGGCTGAGTCTGGCACAT[G/A]AACCAGTCTGTGAGGGGATGGATGTGGGTGTAATGGGGGC |
C |
C |
C___1893089_10 |
|
|
ADP-ribosylation
factor 4-like |
ARF4L |
UTR
3 |
17 |
41952875 |
0.34 |
0.06 |
0.28 |
0.4 |
hCV1893089 |
TGCAGACCCCTACTAGGTGGGAGGAAAGGGAGGGGGGGCT[C/T]GGGTCACCGTCTCTTCTTGCCACCCCGAGCTGCCTTCTTC |
G |
G |
C___1893033_10 |
rs1463558 |
|
|
|
|
17 |
42021288 |
0.48 |
0.24 |
0.2 |
0.21 |
hCV1893033 |
CTACACAAAGCTACATCCCAAACTGTGAGCATTTCTATCC[A/G]CTTCTTGAATTCGTGGACTGCAAGTTCAGAGACCTTAATT |
T |
T |
C___1893036_10 |
|
|
|
|
|
17 |
42021723 |
0.18 |
0.29 |
0.24 |
0.44 |
hCV1893036 |
TGGTGAATAATCAGCCGCACAAAGCCACACCCAGGCAAGC[C/T]TGTACATACTTGAAAGAGTAAGAGAATGTGGAAAATCTGA |
G |
G |
C__15967261_10 |
rs2279191 |
|
DEAH
(Asp-Glu-Ala-His) box polypeptide 8|DEAD/H (Asp-Glu-Ala-Asp/His) box
polypeptide 8 (RNA helicase) |
DHX8|DDX8 |
Intron |
17 |
42045592 |
|
|
0.23 |
0.43 |
hCV15967261 |
|
#N/A |
#N/A |
C_____51508_1_ |
rs2293014 |
IMS-JST045975 |
DEAH
(Asp-Glu-Ala-His) box polypeptide 8|DEAD/H (Asp-Glu-Ala-Asp/His) box
polypeptide 8 (RNA helicase) |
DHX8|DDX8 |
Intron |
17 |
42060822 |
0.5 |
0.23 |
0.21 |
0.23 |
hCV51508 |
GAATAGAACATTCATCTACTTTCTGTGTGTGTATGTGTGT[C/T]CTATACAAGGGCTATGGTGATATTAATAAAACTTCAAATA |
G |
G |
C____490912_1_ |
rs2271957 |
IMS-JST066988 |
ets
variant gene 4 (E1A enhancer binding protein, E1AF)|DEAH (Asp-Glu-Ala-His)
box polypeptide 8|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA
helicase) |
ETV4|DHX8|DDX8 |
Intron |
17 |
42074105 |
0.19 |
0.42 |
0.24 |
0.46 |
hCV490912 |
CAAGGTGGTTCAACTCAAACATGCAGAGTCATCAGATTCC[A/G]GCTTACCTGTCCATTATGCCTAACATCTGCTTGCGAATGT |
C |
C |
C____441062_10 |
rs1971 |
|
ets
variant gene 4 (E1A enhancer binding protein, E1AF)|DEAH (Asp-Glu-Ala-His)
box polypeptide 8|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA
helicase) |
ETV4|DHX8|DDX8 |
|
17 |
42077683 |
|
|
0.46 |
0.33 |
hCV441062 |
CTCTACAAGCACTACATCCAGACCAGCTTTCCGTAAGTTC[C/T]GAAACCTGGCCTGGCAAGACCTGCCTGATGTTCCGCCAGG |
G |
A |
C____432284_10 |
|
|
ets
variant gene 4 (E1A enhancer binding protein, E1AF) |
ETV4 |
|
17 |
42103457 |
0.24 |
0.15 |
0.24 |
0.41 |
hCV432284 |
CAAGACATCAGCTTTATCTGTGCGCTTCCTCTTTAGCCCA[A/G]TATACTCCCAGCTAGCAGGCTGAAGGAGAGCCCCATTTCT |
C |
C |
C___7477802_1_ |
rs1004357 |
IMS-JST001283 |
|
|
|
17 |
42166691 |
0.37 |
0.22 |
0.23 |
0.44 |
hCV7477802 |
AAATGAGATTCCTGTTATTGCTTTATTCCTCCTGCAGAAA[T/C]GTTGGTGCGTCCCAGCCAGGGCCAAGATGAGAGGCAGGTG |
G |
G |
C___2561534_10 |
|
|
mesenchyme
homeo box 1 |
MEOX1 |
|
17 |
42188730 |
0.36 |
0.05 |
0.31 |
0.31 |
hCV2561534 |
AACTGGGTAAGCCCATGGTGGGTGGCTTTCTTTCCTTCCA[C/T]TGGGTGGAAATGATTGCCCTTAAGAGCTATATATTCTCTG |
G |
G |
C___2561559_10 |
|
|
mesenchyme
homeo box 1 |
MEOX1 |
Intron |
17 |
42210285 |
|
|
0.12 |
0.1 |
hCV2561559 |
AATATTTCAATTATGCTGTCTCAGAAATTCCTGAGTCTAG[G/A]GAACTTCTGGCAATCATTTTGTTCCAGTTGTCATCAGGAG |
T |
T |
C___2543721_10 |
rs851062 |
|
sclerosteosis |
SOST |
|
17 |
42304461 |
0.43 |
0.32 |
0.34 |
0.5 |
hCV2543721 |
ATGAGGGATAGTGGTTAGGGAAAGCTTCACAAAGTGGGTG[T/C]TGCTTAGAGATTTTCCAGGTGGAGAAGGGGGCTTCTAGGC |
A |
A |
C___7566024_1_ |
rs851054 |
IMS-JST000878 |
dual
specificity phosphatase 3 (vaccinia virus phosphatase
VH1-related)|sclerosteosis |
DUSP3|SOST |
|
17 |
42311788 |
0.33 |
0.44 |
0.38 |
0.42 |
hCV7566024 |
TTTTTGCCTCTGGCTGGGTCTATGGGGGTCAAACAGAAAC[A/G]CCTTGGGCCATTTGTTGGTGGGGTGACAAATGAACTTGGC |
T |
T |
C___7566039_10 |
rs1230395 |
|
dual
specificity phosphatase 3 (vaccinia virus phosphatase
VH1-related)|sclerosteosis |
DUSP3|SOST |
|
17 |
42318102 |
0.06 |
0.19 |
0.14 |
0.09 |
hCV7566039 |
CCATTCCCTCTATCACATGAAGCAATTGGACTCGCTTCCT[G/A]TTTGTCAAGACTCTGACAATGTAATCTTTATGGTTCTACA |
C |
C |
C__15756607_10 |
rs2301683 |
IMS-JST057827 |
dual
specificity phosphatase 3 (vaccinia virus phosphatase VH1-related) |
DUSP3 |
|
17 |
42335920 |
0.06 |
0.29 |
0.15 |
0.07 |
hCV15756607 |
TAACGATTGTTACATTTCATGTGATCTGACTCTAGCTGTT[T/C]AGGGATTTTTCTGAGACTCTCTCTAGGCTGAACACCGACA |
A |
A |
C__11886966_1_ |
rs2240008 |
|
membrane
protein, palmitoylated 3 (MAGUK p55 subfamily member 3) |
MPP3 |
Silent
Mutation |
17 |
42382244 |
|
|
0.17 |
0.19 |
hCV11886966 |
TTGACCCCGTTCTCCCGCCTCTGCCTGACAATATCGATGA[G/A]GATTTTGATGAGGAATCGGTGAAGATCGTCCGCTTGGTGA |
T |
T |
C___2814422_10 |
rs231489 |
|
membrane
protein, palmitoylated 2 (MAGUK p55 subfamily member 2) |
MPP2 |
Intron |
17 |
42455465 |
0.37 |
0.44 |
0.32 |
0.36 |
hCV2814422 |
AGAATCTGGTGACAGCAGTGAGCCCTCATCGTAGACATAT[A/G]CATCCATGCACAAAAGGTATATTCTACTCTAGGGGATCAT |
T |
T |
C___2814409_1_ |
rs3744416 |
|
apoptosis
related protein|membrane protein, palmitoylated 2 (MAGUK p55 subfamily member
2) |
APR-2|MPP2 |
|
17 |
42462227 |
0.45 |
0.23 |
0.34 |
0.35 |
hCV2814409 |
TGAACAGATGTGAGAGGCTGGCATTCTGCAAGGCCTTTAT[C/T]AGAGAGATACTTGTTGACCGACGAATGCAGTGGGGCAGCC |
G |
G |
C___2373883_10 |
rs231474 |
|
pancreatic
polypeptide |
PPY |
|
17 |
42491642 |
0.45 |
0.44 |
0.06 |
0.05 |
hCV2373883 |
CGGGGTGGAGGGCCAGACCCACAAGGCCATGTGTGGGTGG[A/C]GTGGGGGAAGGTGGATGGGTTGCCAGGGGAGGCAGGGGAG |
T |
T |
C___2814368_10 |
|
|
pancreatic
polypeptide |
PPY |
|
17 |
42494659 |
0.46 |
0.31 |
0.07 |
0.06 |
hCV2814368 |
TGTGAGTGCCTTTGCTGGTCTGTGCAGGACGACATGGACA[A/G]TAGCGTCTTCTCCAGGACCGATATCTGTGTCTCTATCGCA |
C |
C |
C___2964525_10 |
rs1662754 |
|
pancreatic
polypeptide|peptide YY |
PPY|PYY |
|
17 |
42500690 |
0.47 |
0.23 |
0.31 |
0.26 |
hCV2964525 |
GAGGGGCAGAGGTAAGATATCTCACCCTGAAGCAGTTCTG[T/A]TTCTACTAAACGTGAAATCTAAACTCTCTGCCAGAAACTC |
A |
A |
C___2964463_1_ |
|
|
N-acetylglutamate
synthase|hypothetical protein MGC4251|peptide YY |
NAGS|MGC4251|PYY |
|
17 |
42561137 |
0.32 |
0.4 |
0.33 |
0.22 |
hCV2964463 |
TCCACCCTGGCCATTCCAGGGCCTGTAGTGTCCATGGTGA[A/G]GGTCAGCTGCCTGGGTCAGAAGCTGGCTTGTGAAAGGAGT |
T |
T |
C___2964455_10 |
rs228779 |
|
N-acetylglutamate
synthase|hypothetical protein MGC4251|peptide YY |
NAGS|MGC4251|PYY |
Intron |
17 |
42566378 |
0.19 |
0.39 |
0.09 |
0.04 |
hCV2964455 |
CTTGAGGAAGAGACTGTCAGACCCTTAGGGGAGGAAGATG[C/T]GTGAACAGCTACAGGGCAGCAAGATCAATGTTTTTGTGGC |
A |
A |
C___1169281_10 |
rs860354 |
|
hypothetical
protein FLJ30656 |
FLJ30656 |
|
17 |
42585209 |
0.24 |
0.36 |
0.34 |
0.22 |
hCV1169281 |
ACACGGGAGACTAGTGAGAATGGCAGAAATTGCCACCTAG[T/A]TTGAAAGCATATTGAACCATGGAAGAGCGTGGTGCAGAGA |
A |
A |
C___2964422_1_ |
rs2285750 |
IMS-JST036062 |
hypothetical
protein FLJ30656 |
FLJ30656 |
Intron |
17 |
42589837 |
0.12 |
0.3 |
0.35 |
0.22 |
hCV2964422 |
CAGACCAGGACATTGTGCTACAGTCTCTGCCTCCTCTAGC[G/A]GCAGAGGCCCTGTCTGGCCTCCCTGCCTTCCCTGTACTGT |
T |
T |
C____557390_10 |
rs228758 |
|
histone
deacetylase 5|hypothetical protein FLJ30656|glucose-6-phosphatase catalytic
subunit 3|hypothetical protein BC002494 |
HDAC5|FLJ30656|G6PC3|LOC92579 |
UTR
5 |
17 |
42623370 |
0.46 |
0.09 |
0.26 |
0.18 |
hCV557390 |
AAAGCCCACCCCTCTGAGCCCCAGGCCCCGCCCCGCCAGC[G/A]GTCACCACCAAGCCCCGCCCCCAGCAGTCCCCCGCTCCTG |
T |
T |
C___2964387_10 |
rs368328 |
|
histone
deacetylase 5 |
HDAC5 |
Intron |
17 |
42645454 |
0.28 |
0.48 |
0.21 |
0.19 |
hCV2964387 |
CCATCCCTGGTTTATTTCCTCATTCCTTCCCCAAGATCCA[C/T]GTCCTCTTCCTATATACAAACGATTTTTCATAAATGTAGA |
G |
G |
C___2964371_10 |
rs615070 |
|
histone
deacetylase 5 |
HDAC5 |
Intron |
17 |
42651756 |
0.28 |
0.49 |
0.2 |
0.2 |
hCV2964371 |
TTGCCTCTGACCTCTGCAGGAGGTGGCTCTACTGGCCTCT[T/C]GATTCCCATCAGAGTGAAGTCCTGGCAGGTGAGGGAAGGA |
G |
G |
C___2964364_10 |
rs425038 |
|
histone
deacetylase 5 |
HDAC5 |
Intron |
17 |
42657193 |
0.3 |
0.28 |
0.21 |
0.16 |
hCV2964364 |
TTTGAGGGACAAAAGGGATCCCACAATTGTGGCCTGAGCC[A/G]AGAGCACAGAGTGGCCCTTCCTGGAGGTAGCGAGGCAGGT |
T |
T |
C__11880525_10 |
|
|
hypothetical
protein MGC3130 |
MGC3130 |
Intron |
17 |
42699079 |
0.06 |
0.08 |
0.05 |
0.11 |
hCV11880525 |
GGGAAGGGACTGATCTGCCATTTTCAAGGAACAGAAACTT[C/T]AGCTGTCAGATTCCTTTACTCTAATTCCATTACTCACTTA |
A |
A |
C___2625548_1_ |
rs2240226 |
|
ankyrin
repeat and SOCS box-containing 16|hypothetical protein
DKFZp762C2414|hypothetical protein MGC3123 |
ASB16|DKFZp762C2414|MGC3123 |
|
17 |
42741383 |
|
|
0.29 |
0.39 |
hCV2625548 |
ACAAACCTTCCTAATTCCGGCACCCCAACCTAAAGCTAAA[A/G]ACCTACCCTACCCTTTGCCTCTATTGTGAAACTCTTGCTT |
C |
C |
C__15769884_10 |
rs2071167 |
|
upstream
binding transcription factor, RNA polymerase I |
UBTF |
Mis-sense
Mutation |
17 |
42762684 |
0.35 |
0.41 |
0.31 |
0.37 |
hCV15769884 |
|
#N/A |
#N/A |
C__11880605_1_ |
rs2269906 |
IMS-JST024248 |
upstream
binding transcription factor, RNA polymerase I |
UBTF |
Intron |
17 |
42769502 |
0.49 |
0.13 |
0.27 |
0.26 |
hCV11880605 |
CCTTACAGCAAATAGCTGCCCGTTGCAGCTTGGCACAGTA[T/G]AAATGATAATAGCCTTGAAGCAAGCCAGACTTGAGTTCGA |
A |
A |
C__11880609_1_ |
rs2269905 |
IMS-JST024247 |
upstream
binding transcription factor, RNA polymerase I |
UBTF |
Intron |
17 |
42769627 |
0.48 |
0.13 |
0.28 |
0.27 |
hCV11880609 |
ACTCAGAACTTGAACTTGGCAGCACATTTAGATATATTGC[C/T]TCCCTGCTTCCCTCCTTCTCTGACAAGCTACCTCGTTTCC |
A |
A |
C___2625538_10 |
|
|
upstream
binding transcription factor, RNA polymerase I |
UBTF |
Intron |
17 |
42769887 |
0.5 |
0.13 |
0.27 |
0.24 |
hCV2625538 |
AATTCTGGGGGTTCTCCCTGGAGCAGGGCCCTGAGAGTTT[C/T]TGTGCACCTGCCTACCTTGCCTCAGAGCTGCCCTGTATCC |
G |
G |
C___2548233_10 |
rs5910 |
IMS-JST062824 |
integrin,
alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) |
ITGA2B |
Silent
Mutation |
17 |
42924954 |
0.35 |
0.37 |
0.41 |
0.41 |
hCV2548233 |
ATCTGTATACCCTGACCTTGGCCCCCGTGTACCCCCAGGT[C/T]GGCTTCTTCAAGCGGAACCGGCCACCCCTGGAAGAAGATG |
#N/A |
#N/A |
C___1384338_10 |
rs1377808 |
|
|
|
|
17 |
42958696 |
0.35 |
0.43 |
0.43 |
0.49 |
hCV1384338 |
TGTGTTTTCAATTGCCATAAGAGAATATGATAATGTGTTC[T/A]ACACTAATACCATGACTGTTGGTTGAGGGTCATGTCCTAA |
T |
T |
C___9270079_10 |
|
|
|
|
|
17 |
42969350 |
|
|
0.32 |
0.43 |
hCV9270079 |
CCCTGAGCTTTAAATAGCAGAACTAAAACAGATGAAGCCT[C/T]TAGCAGCCACCAGTGACTGTATTCTGATTTGTACAGGATA |
A |
A |
C__11880748_10 |
|
|
|
|
|
17 |
42970855 |
0.35 |
0.42 |
0.43 |
0.49 |
hCV11880748 |
TCCTTAATTATTTTGCATATCTTTAAAAAATTTGTCTGCT[G/A]ATGGATATGACAGTAGAATCATTTTCTTTAGCATTTCAAG |
C |
C |
C___1384322_1_ |
|
|
|
|
|
17 |
42976857 |
0.34 |
0.31 |
0.43 |
0.49 |
hCV1384322 |
TCATGCACACAAGCAGGTGAGTTGTAGTTACTTGCTAACA[T/G]AAGAAGGTACCTATCTATTGTTACAACAATTGGATTTTAT |
C |
C |
C__25653460_10 |
|
|
frizzled
homolog 2 (Drosophila) |
FZD2 |
|
17 |
43112219 |
|
|
0.3 |
0.36 |
hCV25653460 |
GGCGGGTTTTGAAGGGCACTTAAGAAAGAGAACCCTCCCC[C/A]CAACTACACTCCCCAACACACACACACCTCATTCTTCAGT |
G |
G |
C____450938_10 |
|
|
|
|
|
17 |
43217690 |
0.14 |
0.08 |
0.06 |
0.07 |
hCV450938 |
TCCACATAAATATTTCTCCTTCATTTCAAATCCTATATCT[A/G]ACTTACAGTGCATGCTTACCTCTTATTTCTCCACAACACA |
C |
C |
C____450936_10 |
|
|
|
|
|
17 |
43219403 |
|
|
0.1 |
0.02 |
hCV450936 |
ATGAACATACTCTGGGTATCTACAATAATCTACATTTTCA[G/T]TGTATCTATTAAATTGAGAAAGAAACATCTCTGCCCTTTT |
C |
C |
C___7475586_10 |
|
|
hypothetical
protein FLJ31795 |
FLJ31795 |
|
17 |
43229038 |
0.08 |
0.08 |
0.13 |
0.09 |
hCV7475586 |
CCAGCTGCAAAGGGCAAATTTTAAACAACCATATCTTCTA[C/T]GGTAAGATTGAGTTTTAGGCCAGATTTTGGATTTCAGTCA |
G |
G |
C__25751684_10 |
|
|
Dbf4-related
factor 1 |
DRF1 |
Intron|UTR
3 |
17 |
43283656 |
0.26 |
0.33 |
0.08 |
0.02 |
hCV25751684 |
ACCTGATGTAGAAGAAGGAAATAATGACAATACTACATAT[C/T]GCAGAGTGTGCATTTTGTGTGGGTGCTTCAGAAGAACCTG |
A |
A |
C__11622840_10 |
rs2337848 |
|
Dbf4-related
factor 1|a disintegrin and metalloproteinase domain 11 |
DRF1|ADAM11 |
|
17 |
43306919 |
0.11 |
0.08 |
0.14 |
0.09 |
hCV11622840 |
ATCACAGTCCCCAGTCCCTGAGGTTCCACCTCCCCTGTCT[C/T]ATGCTTGCCTCAGCTCTCTTAGGAGCTGTGGGATCCCCAC |
G |
G |
C___2977508_1_ |
rs1558085 |
|
a
disintegrin and metalloproteinase domain 11 |
ADAM11 |
Intron |
17 |
43329373 |
|
|
0.27 |
0.17 |
hCV2977508 |
AGAGGCAAGGGATGGAGATGCTGAGTGGTCAGAGTGGAGA[T/C]AAGAGACTGCCCTGAATCCCAGGCTCAGGGGGCAGCCATC |
G |
G |
C___2977537_10 |
rs1003591 |
|
gap
junction protein, alpha 7, 45kDa (connexin 45) |
GJA7 |
|
17 |
43359731 |
0.27 |
0.17 |
0.32 |
0.28 |
hCV2977537 |
ACCTGGATCCTGGATGTAGATCTGGGAATCTCAGAAAGAA[A/T]CTGTCCTTTAAAATGCTGTTTTAAATGGATTTGCTGTTGA |
A |
A |
C___2576729_10 |
|
|
gap
junction protein, alpha 7, 45kDa (connexin 45) |
GJA7 |
|
17 |
43367960 |
0.38 |
0.28 |
0.44 |
0.45 |
hCV2576729 |
ACCAAATGACAGTACAAAGCAAAAACCATGCAGATTTACA[C/T]TGCCTGTGATCTAATAATACCACCTCCTAGAATTTATAGA |
G |
A |
C___7915846_10 |
|
|
CLST
11240 protein|U5 snRNP-specific protein, 116 kD |
CLST11240|U5-116KD |
|
17 |
43398563 |
|
|
0.33 |
0.28 |
hCV7915846 |
GATGAGTAGAAAGCCTGGGTCCCCCAAGTTACACTCCCTC[G/A]GATACTCTTATGAACAATGTGGGATGTAAATAAAATACCC |
T |
T |
C___7915893_1_ |
rs1867287 |
IMS-JST041346 |
U5
snRNP-specific protein, 116 kD |
U5-116KD |
Intron |
17 |
43417920 |
0.41 |
0.15 |
0.42 |
0.46 |
hCV7915893 |
AATGATCCTCTAAATCTGAGAAGTCTGTAAATAGACTTCT[A/G]TTTAATAGGTGAGGGAGTTTCTGAGTGGGAGGAGATGCTG |
C |
T |
C___7915928_10 |
|
|
U5
snRNP-specific protein, 116 kD |
U5-116KD |
Intron |
17 |
43422279 |
|
|
0.23 |
0.18 |
hCV7915928 |
CTCAGCCTCAATGGCTTGGAGTCAGGTAAAGCCGAGGGAA[A/G]GAGATGGGGCTTGGGCAAATAAAGAGTAGAAAGCCAAGAA |
C |
C |
C___7915936_10 |
|
|
U5
snRNP-specific protein, 116 kD |
U5-116KD |
Intron |
17 |
43424367 |
0.3 |
0.28 |
0.23 |
0.17 |
hCV7915936 |
TAGGAATCGTGCACTGAGAGTCTTTTCTGTGTTCAATGTT[G/A]CAGTTCCTTAGAGGGAAGTCACTGTTACCCCGTTCTTAGA |
T |
T |
C___7915995_10 |
|
|
U5
snRNP-specific protein, 116 kD |
U5-116KD |
Intron |
17 |
43432627 |
0.11 |
0.17 |
0.23 |
0.19 |
hCV7915995 |
ACTGGGGCAGAGTTTTTAAAAACTGGAAGGTTTTAGGTTT[C/T]GGCTGATTTGCTTTCTTGGCACCATCTGATGCCCAGTGTC |
G |
G |
C__11614431_1_ |
rs2289677 |
IMS-JST041344 |
U5
snRNP-specific protein, 116 kD |
U5-116KD |
Intron |
17 |
43436174 |
0.42 |
0.26 |
0.49 |
0.41 |
hCV11614431 |
GTGACCCTTTGTGGACATCTCCACCATGGCAAGGTAAGAC[G/A]GAACTTTCAGCTACTTGGAACAGGATTTCTCTTTTGTACC |
T |
T |
C___7916069_1_ |
rs2277617 |
IMS-JST074618 |
U5
snRNP-specific protein, 116 kD|glial fibrillary acidic protein |
U5-116KD|GFAP |
|
17 |
43452238 |
0.13 |
0.37 |
0.24 |
0.21 |
hCV7916069 |
AGACCACGCCCGCAGCTGTGGTTGCCTAGCAACTGCGCTA[A/C]CAGCCTGACCACGTGATCTGCCCGAAGGCCCCTCCCCCCA |
G |
G |
C___7475620_1_ |
|
|
U5
snRNP-specific protein, 116 kD|glial fibrillary acidic protein |
U5-116KD|GFAP |
UTR
3 |
17 |
43458879 |
0.14 |
0.05 |
0.08 |
0.09 |
hCV7475620 |
GGACGCTGGTAGAGATGGAGGAGGAGGCAATTGGGATGGC[A/G]CTAGGCATACAAGTAGGGGTTGTGGGTGACCAGTTGCACT |
T |
T |
C___7916221_10 |
|
|
glial
fibrillary acidic protein |
GFAP |
|
17 |
43475462 |
0.2 |
0.29 |
0.28 |
0.35 |
hCV7916221 |
TCACTCGCGGTGTGGTGTCCCCACGCCAGGAGGCAATTTG[G/T]CTGGTCTGAGCTTTGAGCTTCGCAGGGAGCTGGCAGGGGA |
C |
C |
C___7916265_10 |
rs1007190 |
|
C1q-related
factor |
CRF |
Intron |
17 |
43513374 |
0.13 |
0.21 |
0.17 |
0.15 |
hCV7916265 |
CACCCGCTGGATCTTATGTCAGTGGATGGACACAAGGGCA[C/T]ACCTTGGCCCCACAGGTCAGGCAGCTGGACCAATGCCAGG |
T |
T |
C___7916319_10 |
|
|
C1q-related
factor |
CRF |
|
17 |
43522146 |
0.49 |
0.3 |
0.42 |
0.47 |
hCV7916319 |
CTGCTAAAGAATGACATCCCAGCCTCTCCTCTCCCGAGAG[C/G]TACCCCCCGCCGGCTCACACTCTCCCTGTTGACCCTTCAC |
G |
C |
C__11413775_10 |
rs2040558 |
|
N-myristoyltransferase
1|hypothetical protein FLJ22955 |
NMT1|FLJ22955 |
Intron |
17 |
43622516 |
0.24 |
0.09 |
0.04 |
0.06 |
hCV11413775 |
GTTTGTTTGGCGAGTTAGACTTTGACTTTGCAACTCCAAG[G/A]TAAAATCAAATGCTGTTCAGAGACCATTATCAAGAATATG |
T |
T |
C____341577_1_ |
rs1053733 |
IMS-JST011282 |
N-myristoyltransferase
1|phospholipase C, delta 3 |
NMT1|PLCD3 |
UTR
3 |
17 |
43658193 |
0.44 |
0.39 |
0.19 |
0.27 |
hCV341577 |
GGGGTTCCATTTCCTGGTTCGAATTTTCAGTGGCTTTATC[C/T]AGAATCGCACTGGTGACTGGTTATTGTAGCACCAGTCCAA |
G |
G |
C___2032862_10 |
|
|
hypothetical
protein MGC39389 |
FLJ32384 |
Intron |
17 |
43718116 |
0.26 |
0.08 |
0.24 |
0.12 |
hCV2032862 |
CTTAAGAGCCAGGCATATGTCATGTGTGTTTTGCAGACCC[T/C]GAAGAGAATTTCAGGGAAAAGGAGGTATGTCAGGGTGTGT |
A |
A |
C___2032865_10 |
|
|
hypothetical
protein MGC39389 |
FLJ32384 |
|
17 |
43723352 |
0.49 |
0.41 |
0.24 |
0.26 |
hCV2032865 |
TCTCTTGACTTTATTTTCCATCAGGAGAGCGCCTCCCTTA[G/T]TACCCTTGGGAGGTAAGGGACAAACACAAACACATGATGA |
A |
A |
C___2032866_10 |
|
|
hypothetical
protein MGC39389 |
FLJ32384 |
|
17 |
43723379 |
0.37 |
0.09 |
0.4 |
0.23 |
hCV2032866 |
TGGCGATCCATGTGCTGTCCCCCTCTGTCTCTTGACTTTA[G/T]TTTCCATCAGGAGAGCGCCTCCCTTATTACCCTTGGGAGG |
C |
C |
C___9260688_10 |
|
|
formin-like
1|formin-like |
FMNL1|FMNL |
|
17 |
43773810 |
0.45 |
0.09 |
0.27 |
0.28 |
hCV9260688 |
GAAAGGAGGATGAGAGCCAGCCACAAGGCTGGAAAAGGAG[T/C]GGGCACCGCAGAGGAGGGAAAAAGAATCTTGACACTGTCA |
A |
A |
C___9267963_10 |
rs1552457 |
|
formin-like
1|formin-like |
FMNL1|FMNL |
Intron |
17 |
43776091 |
0.45 |
0.08 |
0.43 |
0.19 |
hCV9267963 |
AAATGATGTCAAGGAGATGGAGGGCCACCAACTGAGCCAG[A/C]ACCCTCTGCGGCCTGTGTCTCCGTTGAGCCCCCACCCTCA |
G |
G |
C___9267947_10 |
|
|
formin-like
1|formin-like |
FMNL1|FMNL |
Silent
Mutation |
17 |
43791782 |
0.13 |
0 |
0.14 |
0.14 |
hCV9267947 |
ACTCATATTGCAGGAAGACACGGAAGTTCATGTTCTCCAC[T/C]GAATGTACCACAATGTTGATGAACTGCATGCAGGCCACCT |
A |
A |
C___7450940_1_ |
rs1801353 |
IMS-JST043806 |
formin-like
1|formin-like |
FMNL1|FMNL |
Silent
Mutation |
17 |
43795192 |
0.4 |
0.16 |
0.3 |
0.36 |
hCV7450940 |
AGCTCTGTGAAGACAGTGCCGGTGATCTGGCTGGGTTTCA[G/A]TGCCACCCAGTTCAAGAGTGGCATTCGGAACTTAGTCTGG |
T |
T |
C___9267939_10 |
rs4248280 |
|
hypothetical
protein FLJ25414|mitogen-activated protein kinase kinase kinase 14 |
FLJ25414|MAP3K14 |
Intron |
17 |
43810400 |
|
|
0.24 |
0.39 |
hCV9267939 |
CGGTGGGGGCAGGGAGTTAAGAGTTTCCTGAGTCAAGCCT[C/G]CATTCAAGTCATCACTTCAGCTATGTTCAGCTGGGGGACC |
G |
G |
C__11873246_1_ |
rs2285674 |
IMS-JST035952 |
hypothetical
protein FLJ25414|mitogen-activated protein kinase kinase kinase 14 |
FLJ25414|MAP3K14 |
Intron |
17 |
43817728 |
0.39 |
0.42 |
0.5 |
0.39 |
hCV11873246 |
TGACAAAGAGGTCCTCCAGACCTACACTTGAGCCGGGTGG[G/T]ATTCTCTGAGTCCCGTGGAATGACAGACAGGCAGTGCCCT |
A |
C |
C___2554863_1_ |
rs2074293 |
IMS-JST001062 |
hypothetical
protein FLJ25414|mitogen-activated protein kinase kinase kinase 14 |
FLJ25414|MAP3K14 |
Intron |
17 |
43819495 |
0.48 |
0.45 |
0.38 |
0.28 |
hCV2554863 |
ACCCAAGCCGGAGATGGATCCTGGAGCCCAGGGCCCTGAG[C/T]CCGTACCCAATCCTGTTGTTTCAGAACCCATCAAAGGCCT |
G |
G |
C__11873241_10 |
|
|
mitogen-activated
protein kinase kinase kinase 14 |
MAP3K14 |
Intron |
17 |
43826088 |
|
|
0.49 |
0.39 |
hCV11873241 |
AATGTGATAATAGATGTCAGGTGCTCATTGTCGATGCTCC[C/T]GTACACAGGGAAGAGAAGGGAAAGGCTGGTTGACTCTCCG |
A |
A |
C__11873240_10 |
|
|
mitogen-activated
protein kinase kinase kinase 14 |
MAP3K14 |
Intron |
17 |
43829099 |
|
|
0.49 |
0.39 |
hCV11873240 |
AAATATGTGGATGGGAAGTCTGCTGCCTTGTTTTAAAAGG[T/C]GGAGCCAGGATCTAAGCCCAAGATGTTTATATCCAAGGCC |
G |
G |
C___2554852_10 |
|
|
mitogen-activated
protein kinase kinase kinase 14 |
MAP3K14 |
Intron |
17 |
43833840 |
0.08 |
0 |
0.13 |
0.12 |
hCV2554852 |
CTACTCTAGGGACTATTCTGTACCATGTTTTTTTCATGCA[G/A]TAATATGACAGATTTCCTTATTGGCATATATACAACTCTC |
C |
C |
C___2541135_10 |
|
|
mitogen-activated
protein kinase kinase kinase 14 |
MAP3K14 |
|
17 |
43865148 |
|
|
0.13 |
0.13 |
hCV2541135 |
CTAGTTTTTAGAAAAAATAGATCACCGGATGTCAAGCCTC[A/T]TGTGGAGCTCGGTTCAGATGAAAATGAAACCAGCAGGCCT |
A |
A |
C___2256372_10 |
rs732589 |
|
|
|
|
17 |
43946182 |
0.34 |
0.44 |
0.39 |
0.35 |
hCV2256372 |
AGATAGACAGTAAGCAGATAATTACTTGGTTATCACATTT[A/G]TACAAGAGCTAGCAGAAGTGTAGAGTGCTCGGAAGGTGTG |
T |
T |
C___2541206_1_ |
|
|
|
|
|
17 |
43947929 |
0.21 |
0.08 |
0.42 |
0.39 |
hCV2541206 |
ACTGTGCGTGTGCGATAGCGTGTGTGGGGGTGAGAGTTTG[C/T]TTTCTGGAATGGTAGGTGCTGGGAGGAGGAGTTTGATGGA |
G |
G |
C__11622767_10 |
rs1230085 |
|
hypothetical
protein LOC201175 |
LOC201175 |
|
17 |
43977021 |
|
|
0.46 |
0.44 |
hCV11622767 |
TCTGTTTCCAGATTGCAGAAGGATTCTGGTGTTGAGGGAA[C/T]TTCCAGAACTGTTGCCTGAGCCGGGTGAGGCCTGCAGGAC |
A |
G |
C___7448469_1_ |
rs1635302 |
IMS-JST028107 |
hypothetical
protein FLJ25168 |
FLJ25168 |
|
17 |
44207295 |
0.05 |
0.13 |
0.1 |
0.08 |
hCV7448469 |
AGACCTCAGAAACCTGAGTTGGAGTGGAAGGCTCAGCTGT[C/T]TTCCTGCTGCCCCTTTGTCAGACACATCACCCCTCTTGTG |
C |
C |
C___1570087_10 |
|
|
|
|
|
17 |
44345552 |
0.35 |
0.29 |
0.1 |
0.14 |
hCV1570087 |
TCGTGGATCCTGGGCTGTCCCACAACATGGGGTCTTACAG[T/C]TCTTTGATGTATCCCCCCACAGGGGGCTCAAAAACACCTA |
C |
C |
C___2544843_10 |
rs110402 |
|
corticotropin
releasing hormone receptor 1 |
CRHR1 |
|
17 |
44355457 |
0.37 |
0.32 |
0.08 |
0.14 |
hCV2544843 |
TTGGTTTGGGAATTTTAAGAAGCATTTTTCTTTGCATAAC[G/A]CAACACCAGTCCTCTGTGTTTAGAAAATGCCTGTGTGAAC |
G |
G |
C___2257689_10 |
rs242924 |
|
corticotropin
releasing hormone receptor 1 |
CRHR1 |
Intron |
17 |
44360786 |
0.38 |
0.3 |
0.09 |
0.1 |
hCV2257689 |
TGGGTGTGGTCCTGGGCATGGCTGCTGCTGGGCAAAAATG[G/T]AGAGGGTCCCTGCACCTGAGTGTCTTTGGAAGGCTTGTGG |
G |
G |
C___2544836_10 |
rs242940 |
|
corticotropin
releasing hormone receptor 1 |
CRHR1 |
Intron |
17 |
44368019 |
0.43 |
0.36 |
0.09 |
0.1 |
hCV2544836 |
GTCCACTCTTGTGCCAATTCTAGGTTATTAACCTGGGGAC[G/A]CTGGGGCTCAAAAGGACTGGTGTGCCAGCCTCACTCAGAG |
A |
A |
C___2544824_10 |
|
|
corticotropin
releasing hormone receptor 1 |
CRHR1 |
|
17 |
44388450 |
0.06 |
0.02 |
0.08 |
0.02 |
hCV2544824 |
GCCAGGAGAAGACCCCTGCCCAAGTGGCTCTTGGGACAAC[T/G]TGCTGCTTACACTCCAGGTGTGGACCGGCCGCAGCCCCCA |
T |
T |
C___2257672_10 |
rs242944 |
|
corticotropin
releasing hormone receptor 1|intramembrane protease 5 |
CRHR1|IMP5 |
Mis-sense
Mutation |
17 |
44398599 |
0.48 |
0.34 |
0.22 |
0.14 |
hCV2257672 |
GGCATTGGCCTCTACAGCTGCCTGTCACCCCTGGTGTGCC[A/G]CCTGTCCCTGCGGCAATACCAGAGGCCTCCGCACAGCCTC |
G |
G |
C___2544808_10 |
|
|
intramembrane
protease 5 |
IMP5 |
|
17 |
44404229 |
0.48 |
0.41 |
0.2 |
0.13 |
hCV2544808 |
GTCAAGGTCCCTCCCTGCAGGCCTACCCCTTTCCTGGTGG[A/G]ACAGATCCCCCTTCAAGACAGAACTCGCTGCCCAGCTGCT |
G |
G |
C__15969145_10 |
rs2280004 |
|
microtubule-associated
protein tau |
MAPT |
Intron |
17 |
44460598 |
|
|
0.13 |
0.17 |
hCV15969145 |
AACGCACTCCCCATTGGTCCAAATGAGTTTTGCTATACGA[A/G]GATGCTGATAATAATAGCAGCAGTGGATTATTCTGCTAAA |
G |
G |
C___3202946_10 |
|
|
microtubule-associated
protein tau |
MAPT |
Intron |
17 |
44470230 |
0.14 |
0.07 |
0.11 |
0.16 |
hCV3202946 |
AGGAGAAAAATAAATCAAAACAAAAGCAAAAACAGCAAAC[A/G]TGCATCTCTTAAAGAAGGCTCTGAGTCCAGGTAAATTTCC |
G |
G |
C___1016016_1_ |
|
|
microtubule-associated
protein tau |
MAPT |
Intron |
17 |
44495212 |
0.39 |
0.28 |
0.43 |
0.4 |
hCV1016016 |
GTTTCTTCTTCCTTACAAAGCAGTTGGCTTCGCCCAGGGT[A/G]CACCAGGACACGGTTTTGGCTCTGTCCCCAGGGTGTCACG |
G |
A |
C___3202956_10 |
rs242559 |
|
microtubule-associated
protein tau |
MAPT |
Intron |
17 |
44501387 |
0.14 |
0.44 |
0.08 |
0.11 |
hCV3202956 |
AATAAGGAGAAAGTTCTCCCAGGAAACAAGAGCTTTAGTT[C/A]TGTTGGGCCAGCCCTTATATTCCTTAGCTGTTACCAGTCA |
C |
C |
C___3202957_10 |
|
|
microtubule-associated
protein tau |
MAPT |
Intron |
17 |
44502238 |
|
|
0.44 |
0.47 |
hCV3202957 |
AGCTTGATGCGCCCGCGGTGTAGGAGACCAGCCCGACTCG[A/G]GCTTCCCCTGAGCCCCTGGACTCTTGACTCCAGCAGGGCC |
G |
A |
C___3202960_10 |
rs2435214 |
|
microtubule-associated
protein tau |
MAPT |
Intron |
17 |
44543815 |
0.12 |
0.11 |
0.21 |
0.28 |
hCV3202960 |
AGCACACCCAAGGAGTTCTTGAGGCCTTAGGGTTGTTTGC[A/G]AGAGAATGAAAGAACACGACCTAGCTCTCTTTAGCATCCT |
A |
A |
C___2560324_10 |
|
|
microtubule-associated
protein tau |
MAPT |
Intron |
17 |
44562976 |
0.3 |
0.31 |
0.1 |
0.16 |
hCV2560324 |
AGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTC[A/G]ACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAA |
A |
A |
C___2560317_10 |
rs7521 |
|
microtubule-associated
protein tau|DKFZP727C091 protein |
MAPT|DKFZP727C091 |
UTR
3 |
17 |
44580881 |
0.34 |
0.41 |
0.12 |
0.17 |
hCV2560317 |
GGCAGAGGTGATCACCTGCGTGTCCCATCTACAGACCTGC[A/G]GCTTCATAAAACTTCTGATTTCTCTTCAGCTTTGAAAAGG |
A |
A |
C___2264293_1_ |
rs2074432 |
IMS-JST001273 |
microtubule-associated
protein tau|hypothetical protein LOC284058|DKFZP727C091 protein |
MAPT|LOC284058|DKFZP727C091 |
Intron |
17 |
44585329 |
0.17 |
0.11 |
0.5 |
0.34 |
hCV2264293 |
CATTTCTTCCCACTATTCTCTGGAGGGGTAGGTATACAAC[A/G]TTTACCATCCCAAGAAAAAAGCATGGCTGAACAATGCCAG |
A |
G |
C___2560314_10 |
|
|
hypothetical
protein LOC284058|DKFZP727C091 protein |
LOC284058|DKFZP727C091 |
Intron |
17 |
44592329 |
0.3 |
0.23 |
0.11 |
0.17 |
hCV2560314 |
CCGTAGATGAACTCAATGCCATGCCATTGCTGGCTGTTCA[A/C]TGAGCATTTTGGGTCTTGCTCCAAGATCCATGGTGTCTAG |
A |
A |
C__15885028_10 |
rs2277613 |
|
hypothetical
protein LOC284058|DKFZP727C091 protein |
LOC284058|DKFZP727C091 |
Silent
Mutation |
17 |
44592621 |
|
|
0.38 |
0.46 |
hCV15885028 |
|
#N/A |
#N/A |
C___2560260_10 |
|
|
hypothetical
protein LOC284058|DKFZP727C091 protein |
LOC284058|DKFZP727C091 |
Intron |
17 |
44679790 |
|
|
0.36 |
0.49 |
hCV2560260 |
AAGAACAACAGAGGGGATCCACAGGAAATTCAACAGGTAA[C/T]TTACAACTGGCTCTCTCATCAGACTGGCAGACTGGGTCTA |
C |
T |
C____338624_1_ |
rs2240758 |
IMS-JST012420 |
hypothetical
protein LOC284058|DKFZP727C091 protein |
LOC284058|DKFZP727C091 |
Silent
Mutation |
17 |
44723915 |
0.16 |
0.03 |
0.38 |
0.5 |
hCV338624 |
CAGCCTTTCGAGTCAGCATCAACTGGCTCCGTGGTCTCAA[C/G]GATTCCAAGTTTGGCAGTTTGCTCAAAGTCTTCTCCAAAA |
C |
C |
C___2598655_1_ |
rs2240756 |
IMS-JST012418 |
hypothetical
protein LOC284058|DKFZP727C091 protein |
LOC284058|DKFZP727C091 |
|
17 |
44735106 |
0.14 |
0.04 |
0.38 |
0.49 |
hCV2598655 |
GCATGATCCACAAAACAACTTGCATGAATCAGGTGGTATA[T/G]GTACAGCTTCTCAAGAGAAAGAGAGGAAAAGAACAGTGAT |
G |
G |
C__11623507_10 |
|
|
|
|
|
17 |
44921628 |
|
|
0.4 |
0.3 |
hCV11623507 |
ATGTCTATATAACCAAAATGTTAGTCAGCCCCATTCCAAT[A/G]GAGCACATTTTAAGTGATGTTTAATGGGACATAATTTGAA |
A |
A |
C___2554114_10 |
rs142167 |
|
N-ethylmaleimide-sensitive
factor |
NSF |
Intron |
17 |
45270057 |
0.33 |
0.38 |
0.39 |
0.26 |
hCV2554114 |
CTCATATCCAGGAGTTGGTCTGAACGCTGCTCCAGTTCGG[C/T]CAGCTTTCCATCATGCTCCAGGACCTTGTCAAAGTTGTTA |
A |
A |
C___2554118_10 |
rs199454 |
|
N-ethylmaleimide-sensitive
factor |
NSF |
Intron |
17 |
45274933 |
0.34 |
0.47 |
0.39 |
0.24 |
hCV2554118 |
TAAATACATACATACACACACATCCCTTTCTCTTCTCACA[T/C]GTACATTTTCTTCCTTATCTAGTCACTAGTGTAACCTGTG |
A |
A |
C___2554119_10 |
rs199453 |
|
N-ethylmaleimide-sensitive
factor |
NSF |
Intron |
17 |
45275769 |
0.33 |
0.38 |
0.38 |
0.24 |
hCV2554119 |
GTTTGAAAATGGATCATGAGTACATTTAAAGAGCAAGAAG[A/G]GAAGGGCCTTTTATCTTCTCCTCCCCAAACACAGAAAAAG |
C |
C |
C___2554140_10 |
rs199530 |
|
N-ethylmaleimide-sensitive
factor|wingless-type MMTV integration site family, member 3 |
NSF|WNT3 |
|
17 |
45311459 |
0.34 |
0.43 |
0.39 |
0.22 |
hCV2554140 |
CCCAGTCTCAGTACGGCTTGCCAGCTGATGAGAAACTCTA[T/C]ATCATTTTGCAATAAATTCTGCAACTTACCTGCTTTCTTG |
A |
A |
C__11623713_10 |
rs111769 |
|
wingless-type
MMTV integration site family, member 3 |
WNT3 |
Intron |
17 |
45346790 |
0.42 |
0.19 |
0.34 |
0.25 |
hCV11623713 |
GCATCTATAGACCAATAGGACTGTCGAAAGTTTGACTGGT[G/A]TGAGAATGGGTTAAGGTGCTGAATTTTAGATTTTTATCCT |
T |
T |
C___9261321_10 |
|
|
wingless-type
MMTV integration site family, member 3 |
WNT3 |
Intron |
17 |
45353071 |
0.09 |
0.28 |
0.04 |
0.06 |
hCV9261321 |
ACCCCCTGCCTTCTCTTGGGATGACTACAAACTCCTGTTC[G/A]GTCTTGAAATCATAGTTCAGCCATCACTTCCTCTGCGCAG |
T |
T |
C___1147133_10 |
rs1530364 |
|
wingless-type
MMTV integration site family, member 9B |
WNT9B |
Intron |
17 |
45426415 |
0.36 |
0.29 |
0.31 |
0.18 |
hCV1147133 |
GCTACTCAGACACCTGGCGTAGGCACAGTTGGGGCTAAAC[C/T]TGCCATTTTGACTCCAGGTCGGTGTATGACCATTTGGATG |
A |
A |
C__11615053_10 |
|
|
wingless-type
MMTV integration site family, member 9B |
WNT9B |
|
17 |
45437962 |
0.36 |
0.32 |
0.31 |
0.18 |
hCV11615053 |
AGGCTGCTTTCCAGCTGGGTTAGCTCATTCCCCACCTCAT[C/T]TTGCAGAAGCTCCAGGTTCAGGCTTCTGCACAGCTTTGTT |
A |
A |
C___2960488_10 |
|
|
|
|
|
17 |
45459452 |
0.08 |
0.38 |
0.04 |
0.07 |
hCV2960488 |
GGAGAGAAAGAGGAGATGCTCAGGTAAGAGCAGAGGACCA[A/G]CAGACCTTCCCACCGAGCCCAACACCTGTGTCTGAAGCAC |
T |
T |
C___2275266_10 |
rs197915 |
|
golgi
SNAP receptor complex member 2 |
GOSR2 |
|
17 |
45465160 |
0.4 |
0.33 |
0.42 |
0.42 |
hCV2275266 |
CTAGAATTATTTGGAAGTCGGCTTTTAGGCGATTAAAAAC[C/T]GCCCTTAGCGGTGGAGCCATTCTTGCTGGAAGAGCCGTCA |
G |
G |
C___2592654_10 |
rs1662577 |
|
golgi
SNAP receptor complex member 2 |
GOSR2 |
|
17 |
45471397 |
0.38 |
0.34 |
0.5 |
0.42 |
hCV2592654 |
CTTTATACGTATTTAGGCCTTCCTCTAAATAGAAGAAAAT[G/T]CCACTCTCCAGCTTACTGCATTTTTAACTTATATCCCATT |
A |
A |
C___2275269_10 |
rs189899 |
|
golgi
SNAP receptor complex member 2 |
GOSR2 |
UTR
5 |
17 |
45475167 |
|
|
0.5 |
0.42 |
hCV2275269 |
|
#N/A |
#N/A |
C___2275279_10 |
rs758391 |
|
golgi
SNAP receptor complex member 2 |
GOSR2 |
Intron |
17 |
45491879 |
0.49 |
0.31 |
0.38 |
0.35 |
hCV2275279 |
CATACACTAACCAGGTCTTTCTGAGACTTTCAGTGATTCA[C/T]CACATTAGATGGACTTCAGGACAGATTGGCCTTTATACTA |
A |
A |
C___2592677_10 |
rs736604 |
|
golgi
SNAP receptor complex member 2 |
GOSR2 |
|
17 |
45499447 |
0.44 |
0.35 |
0.49 |
0.45 |
hCV2592677 |
AGCTCTCATCAGTATCTCAGCAGCATGAACGTAAGTTGTA[A/G]GGAGCTCTGAAGGTGTGTGGCAGTGACAGCCTCTGCCCTG |
C |
T |
C___7451192_10 |
rs3892464 |
|
|
|
|
17 |
45521825 |
|
|
0.21 |
0.27 |
hCV7451192 |
ATCGCGAAAGGTAACAAGCACCTCTCTTGCAATGGGAGAG[T/C]TGGGGGACCTCATGCCTTCCTATACACTCAAATCTTCAGG |
G |
G |
C___2960478_10 |
rs1004485 |
|
|
|
|
17 |
45528635 |
0.22 |
0.46 |
0.33 |
0.17 |
hCV2960478 |
|
A |
A |
C__11623088_10 |
|
|
|
|
|
17 |
45552664 |
0.2 |
0.38 |
0.33 |
0.33 |
hCV11623088 |
TGCTGCAAGTCATAAGTTAGCATGTCAGTGAGAAAATGAC[A/C]TACTGAAGGGTCATTTTTATAGGAGAGAGGGAAAGGAGAG |
T |
T |
C___2546995_10 |
rs1713494 |
|
cell
division cycle 27 |
CDC27 |
|
17 |
45670828 |
0.37 |
0.24 |
0.14 |
0.29 |
hCV2546995 |
GACAGTTTCCGCCCAAGCTTGGCCTATTTTATTTTTCCTC[A/G]TACCTACTTTCAAAGTCATTTAGGTATTTGAAGCCTTATT |
C |
C |
C___7451038_1_ |
rs938904 |
|
cell
division cycle 27 |
CDC27 |
Intron |
17 |
45673038 |
0.38 |
0.3 |
0.13 |
0.27 |
hCV7451038 |
ACCAACAGGACATATTTGTCAGAAAACTTACTGTGGACTT[T/C]TGTTTTATTTTTAAAGTGGGAACAGATGAATCCCAGGAGA |
A |
A |
C___2546975_10 |
|
|
cell
division cycle 27 |
CDC27 |
Intron |
17 |
45693425 |
0.4 |
0.33 |
0.31 |
0.39 |
hCV2546975 |
ATAAAGAAAATTGTGCTGAATTGAGGACACAATGTCTTTA[A/T]TACAAGGCTTTTTACTCTTTGGATTTTAATTAAATTTGTT |
A |
A |
C___2546966_10 |
rs188799 |
|
cell
division cycle 27 |
CDC27 |
Intron |
17 |
45703679 |
0.4 |
0.24 |
0.13 |
0.28 |
hCV2546966 |
|
#N/A |
#N/A |
C___2258840_10 |
rs221596 |
|
cell
division cycle 27 |
CDC27 |
Intron |
17 |
45704949 |
0.33 |
0.5 |
0.34 |
0.39 |
hCV2258840 |
GAGGAAAAAATGTGACCTGCTGATAGAAATAATAATTGAA[G/A]CTATTAAAATGACCAGGCTCTCCTAGGGAAAGAAAGAGTA |
C |
C |
C___1709515_10 |
|
|
myosin,
light polypeptide 4, alkali; atrial, embryonic |
MYL4 |
|
17 |
45788239 |
0.27 |
0.48 |
0.23 |
0.49 |
hCV1709515 |
ATTCCTCATTTCCTTTAATTTAAGGTCTCTTTGGCTCTTA[A/T]TCCCTGGGAAGTGTCCCTAACTCACCTCTAGTCTCTGATC |
T |
T |
C___1709526_10 |
|
|
integrin,
beta 3 (platelet glycoprotein IIIa, antigen CD61) |
ITGB3 |
|
17 |
45797763 |
0.17 |
0.43 |
0.47 |
0.35 |
hCV1709526 |
CTCTTCTACCAATACTGGACAGCAAGATGTTTTGAGTGCC[A/G]GGACTTATTTATATTTCCTAGCAAGCTCTCAACAAATAAA |
C |
C |
C__11618852_10 |
|
|
integrin,
beta 3 (platelet glycoprotein IIIa, antigen CD61) |
ITGB3 |
|
17 |
45805397 |
0.14 |
0.45 |
0.47 |
0.36 |
hCV11618852 |
ATTCATTCACACTTTAATTCATTTGACTGGCAAACATCTG[C/T]TGAATGCCTTCTCTGAACCGGTTCAGTCCTTTATTATTCA |
A |
A |
C___1709582_10 |
|
|
integrin,
beta 3 (platelet glycoprotein IIIa, antigen CD61) |
ITGB3 |
Intron |
17 |
45818351 |
0.27 |
0.38 |
0.26 |
0.17 |
hCV1709582 |
TTTTGAGGACATGTTGTCCAGTGAGACAGGATGCTGGACT[G/A]TAGGAACAGGCCACCCTAATGAGGACAGGGGACTACAGGA |
T |
T |
C___7448030_1_ |
rs15908 |
IMS-JST045789 |
integrin,
beta 3 (platelet glycoprotein IIIa, antigen CD61) |
ITGB3 |
Silent
Mutation |
17 |
45842975 |
|
|
0.41 |
0.47 |
hCV7448030 |
ATAGAGACAACTCTTCAGGGAGGTCACGCACTTCCAGCTC[T/G]ACTTTAGAACGGATTTTCTGAGCAGAAAGGGGCACAAGAA |
A |
C |
C___1709543_10 |
rs3760372 |
|
integrin,
beta 3 (platelet glycoprotein IIIa, antigen CD61) |
ITGB3 |
Intron |
17 |
45854640 |
0.3 |
0.16 |
0.36 |
0.36 |
hCV1709543 |
GGAAGATGGGACCACTCCAAACCCCTATCACAGGACTTCC[A/G]GGGAAGTATGTGACAGGAAACCCTGTGCCTCATGTGCACG |
T |
T |
C___1720177_10 |
|
|
integrin,
beta 3 (platelet glycoprotein IIIa, antigen CD61)|hypothetical protein
FLJ40342|hypothetical protein FLJ40342 |
ITGB3|FLJ40342|FLJ40342 |
|
17 |
45868377 |
0.28 |
0.18 |
0.21 |
0.2 |
hCV1720177 |
ATTCTTTAGCAGTGTCCCCAATAAGAACTTGTAAGGAAAA[C/A]GTTTCACAATTGATTTCATTTTAGTATAGTAATTGGATTT |
C |
C |
C____156442_10 |
rs3760370 |
|
aminopeptidase
puromycin sensitive |
NPEPPS |
Intron |
17 |
46170470 |
|
|
0.43 |
0.5 |
hCV156442 |
AGAGATGGGTAACGATTCACTTCTAAATGCAGTTTTCACC[A/G]TAACTTACTGAAAGTGCAAACGTGAGGACTTTTTGAATCA |
C |
C |
C____443041_10 |
|
|
aminopeptidase
puromycin sensitive |
NPEPPS |
|
17 |
46176918 |
0.47 |
0.28 |
0.43 |
0.5 |
hCV443041 |
TAAAATGGGTGTATGACTTATGATAGGGAGCTATTTGAAA[A/G]ACAAAACATCTGACACAGAAAAGGCTGAATTAAAACCTTT |
T |
C |
C__11412599_10 |
rs1136613 |
|
karyopherin
(importin) beta 1 |
KPNB1 |
Mis-sense
Mutation |
17 |
46210613 |
0.04 |
0.06 |
0.11 |
0.13 |
hCV11412599 |
AGTTTGCTTTGGTGAACTCCAATGAGTTCAGGAGTGCATT[C/T]GTAGCAGCTAGCTTCACATTATTACTAGGCTCTTCTTTCC |
A |
A |
C__25472752_10 |
rs3809868 |
|
karyopherin
(importin) beta 1 |
KPNB1 |
Intron |
17 |
46225234 |
0.44 |
0.42 |
0.32 |
0.37 |
hCV25472752 |
TATATACTTAAACACTAAAAAGACAGAACAGTCTGGAAAA[C/T]AGACCTAGGTGTCAAAAGTACTACCCAATTCCCACCCATA |
G |
G |
C__11619928_10 |
|
|
karyopherin
(importin) beta 1 |
KPNB1 |
Intron |
17 |
46232236 |
0.44 |
0.43 |
0.32 |
0.38 |
hCV11619928 |
GAAGCGTTCTGCAAAGAAATCTCTGTGCCAAAAAAGTGAA[C/T]TGTTGCCATCCGCGATACTCTCAAAACTCCTTACTCCATG |
G |
G |
C___2257790_10 |
rs757060 |
|
ProSAPiP2
protein |
ProSAPiP2 |
|
17 |
46268842 |
0.06 |
0 |
0.3 |
0.24 |
hCV2257790 |
GGATCTGCTGTGGGGAACATCCAGGGGACAGGATCCCTCA[G/A]TTCTTCTTTGGAAATGTGTCCGCAGGAAGTTCTTCCTAAA |
T |
T |
C__11419050_10 |
rs1808192 |
|
ProSAPiP2
protein |
ProSAPiP2 |
|
17 |
46269344 |
0.29 |
0.15 |
0.34 |
0.28 |
hCV11419050 |
GCTGGAGGCCTGGCATGGGCATCCCTTCAAAGTGACATGG[T/C]CCCCTGCCTCTCGCCTCATTGGCTGCCTCCAGCTGCTCTA |
A |
A |
C__11626504_10 |
rs4794067 |
|
T-box
21 |
TBX21 |
|
17 |
46283466 |
0.28 |
0.2 |
0.18 |
0.13 |
hCV11626504 |
CCAGAAACACAGGACTGGCCTCCTCCCCAACACCTTACCC[G/A]CCATTTCTCCGTACCTTAAGGAACAGGGAAGTTTCTGCCT |
C |
C |
C___2544987_1_ |
rs991108 |
IMS-JST000933 |
oxysterol
binding protein-like 7 |
OSBPL7 |
Intron |
17 |
46361780 |
0.09 |
0.11 |
0.23 |
0.22 |
hCV2544987 |
AGAAGTAATACCCAAGAGAGGTGAGGATTAAGCAGGATAA[C/T]GGATGTGAACGTACACACGGTTCCTGGTGCCCAGGGGCAG |
G |
G |
C___2960535_1_ |
rs2074189 |
IMS-JST000932 |
oxysterol
binding protein-like 7 |
OSBPL7 |
Intron |
17 |
46362589 |
0.47 |
0.4 |
0.29 |
0.28 |
hCV2960535 |
CCTGTGGGAACAGTCAACGTCAGCCTGCCCAGGTGGGATT[A/C]TTAGACTCTCAGCAGCCAGGCCAAGCCACAGGCAATCCTT |
T |
T |
C___2544966_10 |
rs10428 |
|
hypothetical
gene MGC16309|secernin 2|hypothetical protein BC002980|mitochondrial
ribosomal protein L10 |
MGC16309|SCRN2|LOC90507|MRPL10 |
UTR
3 |
17 |
46389724 |
0.11 |
0.42 |
0.17 |
0.06 |
hCV2544966 |
CTTCACGCTCCTTGGCCATGTTCTGAGCGGCCAGCTTGGC[C/T]TTTGCCTTAATAAATGTGCTTTATTTTCTCTTCAGTGAAC |
A |
A |
C____315259_10 |
rs1108833 |
|
Sp2
transcription factor |
SP2 |
Intron |
17 |
46457435 |
|
|
0.27 |
0.25 |
hCV315259 |
CCTTGGGGGTAACTCGGCTTTTTTTGCCTGTGGGTTCCTG[C/T]CATCGTGGGTCTGGCTTTCTTGGCTTTTTGCTATGGTATT |
A |
A |
C_____95252_10 |
|
|
Sp2
transcription factor |
SP2 |
Silent
Mutation |
17 |
46468732 |
0.45 |
0.47 |
0.28 |
0.23 |
hCV95252 |
TGAGGAGCTGAGTAGGGGCCCCGGTGTCACTGGCGTTCAC[A/G]AGGTTGTTGACGGGCAGAGTGAGCGTCACATTGCCGCCCC |
T |
T |
C____346877_10 |
|
|
hypothetical
protein MGC11242|pyridoxine-5'-phosphate oxidase|pyridoxine-5'-phosphate
oxidase |
MGC11242|PNPO|FLJ10535 |
|
17 |
46509818 |
0.16 |
0.1 |
0.21 |
0.17 |
hCV346877 |
GGTAACAGCTCTTGCACCTGTTTCTCTTGCACCTGACGTG[C/T]AGCTGCTCCTACCCACCTCTCCTGGCTGAGCCTTGCCTGA |
A |
A |
C___2959356_10 |
rs2525110 |
|
hypothetical
protein MGC11242|pyridoxine-5'-phosphate oxidase|CDK5 regulatory subunit
associated protein 3|pyridoxine-5'-phosphate oxidase |
MGC11242|PNPO|CDK5RAP3|FLJ10535 |
|
17 |
46517003 |
0.41 |
0.38 |
0.41 |
0.48 |
hCV2959356 |
GAAGTAAAAGTATGTTGAGTGAGGGGCCCACCACCTTCCA[A/T]ATCCCATGACGACATCTCCAGAGTGTGTCGTCACAGAGTG |
A |
A |
C___2959353_10 |
rs729785 |
|
pyridoxine-5'-phosphate
oxidase|CDK5 regulatory subunit associated protein 3|pyridoxine-5'-phosphate
oxidase |
PNPO|CDK5RAP3|FLJ10535 |
|
17 |
46534797 |
|
|
0.32 |
0.22 |
hCV2959353 |
GCAGCAGGCAGTTCCCTAAGCCAAGAGCATCCCTCCTGAG[C/T]GTTGAGGCCAGAGTGCAGTCCACTTACCTCCTCTATACCC |
A |
A |
C___2562616_10 |
rs737130 |
|
pyridoxine-5'-phosphate
oxidase|pyridoxine-5'-phosphate oxidase |
PNPO|FLJ10535 |
|
17 |
46546573 |
0.26 |
0.49 |
0.39 |
0.21 |
hCV2562616 |
TACCTGAGGATGACCCGGTAAGATGAGAATTAACTACACC[T/C]CTGATGGAGGTAGGAAGTCACAGAACACGAGAACATTCTC |
A |
A |
C___2562653_10 |
|
|
coatomer
protein complex, subunit zeta 2|nuclear factor (erythroid-derived 2)-like
1|pyridoxine-5'-phosphate oxidase|pyridoxine-5'-phosphate oxidase |
COPZ2|NFE2L1|PNPO|FLJ10535 |
|
17 |
46594963 |
0.27 |
0.09 |
0.4 |
0.36 |
hCV2562653 |
CTGTGGAAGACACTGTCCCAATACTGGACACACATAGCTC[G/A]CATGTTTATGTGAAACTGCATTAAAGGTGCACTTCAGGAT |
T |
T |
C___7562416_1_ |
rs1468270 |
|
nuclear
factor (erythroid-derived 2)-like 1 |
NFE2L1 |
|
17 |
46599829 |
0.26 |
0.44 |
0.16 |
0.22 |
hCV7562416 |
GCGGGACACGAAGCATGTGGTTCTTGTGGTTGCGACGCTC[G/A]TGCCGCCATCTTGGGTGCTGGCGGCGGAAACCGGTACCCC |
T |
T |
C___2562659_10 |
rs2023885 |
|
nuclear
factor (erythroid-derived 2)-like 1 |
NFE2L1 |
Intron |
17 |
46601011 |
0.12 |
0.14 |
0.2 |
0.22 |
hCV2562659 |
TCTCTCTGGTCAGAGTAAACACAATTGCGACCCAGAATTC[C/T]TGCTTACGCTACCCTCCCGTTCTCACGCAATTTATTACTA |
A |
A |
C___2562681_10 |
|
|
chromobox
homolog 1 (HP1 beta homolog Drosophila )|nuclear factor (erythroid-derived
2)-like 1 |
CBX1|NFE2L1 |
|
17 |
46621677 |
0.27 |
0.45 |
0.16 |
0.22 |
hCV2562681 |
AATAGATTATATGACCTTGGCTAAAATCTACTTCTCCAAA[G/A]TTTTCCAGGAATTTGGCCCTGTGTTTGCGCACTGATTTAA |
C |
C |
C__11888870_1_ |
rs2240123 |
IMS-JST011564 |
chromobox
homolog 1 (HP1 beta homolog Drosophila ) |
CBX1 |
Intron |
17 |
46627934 |
0.2 |
0.01 |
0.41 |
0.36 |
hCV11888870 |
TAGCCCACAATTCAAACTACTGTCAAAGTAGTTTTGTTCT[G/A]CTTCTTCCCTGATATTAGCAGCTGTCTCTTCTTAGTCCTG |
T |
T |
C___2662308_10 |
|
|
chromobox
homolog 1 (HP1 beta homolog Drosophila )|sorting nexin 11 |
CBX1|SNX11 |
Intron |
17 |
46659973 |
0.28 |
0.44 |
0.15 |
0.22 |
hCV2662308 |
GGTTTCCTTTCTTGGATCCCGAGCAAGCCCTTGCCTTAAT[C/T]CCGGGTGGTAAGAGAGTCCCTCCCTAGGATGTAAAGCGAT |
G |
G |
C___2662298_10 |
|
|
sorting
nexin 11 |
SNX11 |
Intron |
17 |
46665457 |
0.28 |
0.41 |
0.15 |
0.23 |
hCV2662298 |
GTATGTTGCAAGTTCTCTTCATTGTCAACTCCAGTTCCTA[T/C]ATAAGCACCCAAAAAGCCAGTCACAGACCCAAGAAGGAAG |
G |
G |
C____115242_1_ |
rs3744346 |
|
sorting
nexin 11 |
SNX11 |
UTR
3 |
17 |
46673514 |
0.28 |
0.43 |
0.16 |
0.2 |
hCV115242 |
TCCTGGCCCGCATCTTCTCTGACCATCTCAGAGCAGAACC[C/G]AGAGCTCACTTTTCCAAAACTGTTTCTAACTGACCAGGGT |
G |
G |
C___7562450_1_ |
rs1010228 |
IMS-JST012755 |
sorting
nexin 11 |
SNX11 |
|
17 |
46674986 |
0.28 |
0.44 |
0.16 |
0.23 |
hCV7562450 |
CCTCAGACAGACTGCGAGGATGGAAGCAGCATCAGGTAAA[G/T]TATACCTAACAAGGTTCACGCCCAGAACTGTGAGAAGAGT |
A |
A |
C____312814_10 |
rs1860866 |
|
sorting
nexin 11|src family associated phosphoprotein 1 |
SNX11|SCAP1 |
|
17 |
46675669 |
0.27 |
0.45 |
0.16 |
0.2 |
hCV312814 |
TTAGAAAAGTGCTTTCCTTCCTAGGACTTCTCCTTCCAAG[G/A]CCTATACTCAGTTAAGAGAGAGACTGAAAAGAGATGGTGC |
C |
C |
C__25753118_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46689374 |
0.17 |
0.19 |
0.06 |
0.05 |
hCV25753118 |
TCCCATGCAATCACTAGAATAAATGAGCAGAAGCATGAAC[G/A]AATTCTAACTGACGCTATCCTCTTTTCACTTTTCAGGAGT |
C |
C |
C___2958486_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46699546 |
|
|
0.2 |
0.27 |
hCV2958486 |
TGTGCTGAAAAATGGGCACTTTGTCTTTGGTGAACAATTC[C/T]TGTTCCCAGCCTTGTTTTTCTCGGCAGTTAGAAGGATGCT |
A |
A |
C____531091_10 |
rs208007 |
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46706153 |
0.49 |
0.37 |
0.06 |
0.05 |
hCV531091 |
CGCCAGCACACCTGGACTATGTTAACACAACACTATGTCA[A/G]TTATAATGGGAGTTTTAACCCGGTTTTCTCCACCTACTTC |
C |
C |
C___2958499_1_ |
rs208005 |
IMS-JST058844 |
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46714623 |
0.12 |
0.13 |
0.14 |
0.22 |
hCV2958499 |
ATATCAGAACCCTGGTTTCCATTTGCAGCAAAAACATGGG[C/T]ACCTCGGAAAAAATAGAGTCCTTTTAACTTTGATTTCTCC |
A |
A |
C___2958500_10 |
rs2021752 |
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46714901 |
0.44 |
0.38 |
0.2 |
0.25 |
hCV2958500 |
AAGAGAAAAACTAGATAGTTAGTTGCCCTGGATCAGGAAA[G/A]TCTGGCGGGAAACCTCTGCACTGCTTACTTACAAACCAAG |
C |
C |
C___2958503_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46719407 |
0.44 |
0.36 |
0.2 |
0.26 |
hCV2958503 |
GAAGCCTGTTTTCCAAGACCAAACATGAGCTGATTATTAA[C/T]CAGCTAAAATTATGGCCCAATGAAAAGAGGAAATGACATG |
G |
G |
C___1131939_1_ |
rs2305433 |
IMS-JST062732 |
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46740071 |
0.45 |
0.28 |
0.19 |
0.24 |
hCV1131939 |
CTGAGCTAGTCCCCTGGACCCTGAGTCAATATGGGATAAC[C/G]TGTGGGAGTGAAAAGGAGGGTTTTACAGTCCATTAACCTG |
G |
G |
C___1131951_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46755301 |
0.42 |
0.36 |
0.2 |
0.27 |
hCV1131951 |
CCTTCAGCTTTCTACAGTCCTGGAAAATGAGCTAGTCCAC[T/C]TAACAATAAATGGTGGTTGGTTCAAACACACATGACTGGT |
G |
G |
C___1131964_10 |
rs1452662 |
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46767948 |
0.12 |
0.14 |
0.14 |
0.22 |
hCV1131964 |
CCAGCTGTTTAAGTGAGGAGGAACAGGCCTGGGAGTAAAG[A/G]GCTACATGGAGGATTGCAGTTAGGCTCAGGGGCTCTCCTG |
T |
T |
C___1131965_10 |
rs1452663 |
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46768024 |
0.1 |
0.14 |
0.14 |
0.22 |
hCV1131965 |
GCATGTTGAACCCTTATGGCATCCTTCAGATAATGCATAG[C/G]TCAGAGATGGAATAAACAAAGCAATATGCTGAAAGCCAGC |
G |
G |
C___1131985_10 |
rs2938483 |
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46792642 |
0.45 |
0.37 |
0.19 |
0.27 |
hCV1131985 |
AATAAACCATTTGGTTTCTGGACATATATTGCCCATGTGT[A/G]AAGGGTGGACAGGCAGCACTTTACTAGGTTCTTCTCATAC |
C |
C |
C__11617013_10 |
rs2924254 |
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46823022 |
0.44 |
0.35 |
0.38 |
0.49 |
hCV11617013 |
TAAAAAAAGAAACAAGCAAAATTTTCCTTGGTGCTCTCCT[G/A]TCTCCTTCTGACACCTCCCTTCTTCTGCTCAGGTTCACCA |
T |
T |
C___1132028_20 |
rs2084881 |
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46831758 |
0.24 |
0.37 |
0.15 |
0.2 |
hCV1132028 |
TGGTGGGCCATAGGAATGGAGGAGATGGATGAGATGACCC[C/T]GTTGGGGAAAGGGAAGCTAAGAGAGTGGAATGAAATATAC |
A |
A |
C____400447_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46844254 |
0.03 |
0.09 |
0.4 |
0.5 |
hCV400447 |
ACGATTGACCAATGACAACATTAAGAAATGAGTGATCATG[G/A]CAAATTCACCAAGTTACTTTCATGAAATGCTTCCAGAGGG |
C |
C |
C____229785_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46864550 |
|
|
0.14 |
0.2 |
hCV229785 |
TAAGCTCTTGCATGGGATGAAAAAAGAAATAGCCCTCAAA[T/C]CTTTTCTTTACCCTGGTATTATTTTTAAAGGACAAACAAT |
G |
G |
C____229781_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46866932 |
|
|
0.14 |
0.2 |
hCV229781 |
TATTAACAAAGGCCCTTATGATAGCCAACAGGAATTAGAA[A/G]CAATGTTTTTATAATCCATGATGTGATTTTTAACATGGAT |
C |
C |
C_____22535_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46875956 |
0.26 |
0.37 |
0.14 |
0.2 |
hCV22535 |
AACAGCTCAGAATACATGAGAATCCACAATAACATGAGAA[C/T]GTGTGAGGAGCAAACAGCAAAACAGCAGCATGTGTTTGTA |
G |
G |
C____373281_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46882072 |
0.27 |
0.32 |
0.14 |
0.2 |
hCV373281 |
TCCTGCAAAAGATTTATTAGCCTGGCCTTCATTACCAACA[G/A]CAGCAACCACTTACTTAGCACATAACTATGCTGAATGCAT |
C |
C |
C___1570362_10 |
|
|
src
family associated phosphoprotein 1 |
SCAP1 |
Intron |
17 |
46913884 |
|
|
0.14 |
0.2 |
hCV1570362 |
GCTGATTATGTGCTTCAGAAGCTGGTGGGATGGGTAGGAG[C/G]AGTAAGTGGTTTAGATAAGGTACAACAGGACAATTTAAGA |
G |
G |
C___1570295_10 |
rs1027895 |
|
src
family associated phosphoprotein 1 |
SCAP1 |
|
17 |
46985335 |
0.37 |
0.32 |
0.34 |
0.43 |
hCV1570295 |
CCAGGCAGGGACTCAGCTACTGCCAACCTCTCCAGATTGC[C/T]TTGATATTTCTGACAGAACAGTAAAGGACTCGTGACTATC |
G |
G |
C__11619745_10 |
rs4793564 |
|
homeo
box B1 |
HOXB1 |
|
17 |
47074042 |
|
|
0.37 |
0.18 |
hCV11619745 |
TGGGGGAAGAGTGCGTGGAGATTGGCTAAAATGGAACTGT[C/G]GGGTTGGGGACATGATCCAGGACTGTAAAAGCTTCACATA |
C |
C |
C___2906095_10 |
|
|
homeo
box B1 |
HOXB1 |
|
17 |
47080860 |
0.17 |
0.06 |
0.12 |
0.02 |
hCV2906095 |
CACACCAGCGACCTCATCACTATGTCACCAAAGTGTTTTG[A/G]AACTTGGTATTCCAGAGACTTCTGGAACGCCGTGCAAGGC |
T |
T |
C__11619715_10 |
rs1042815 |
|
homeo
box B2|homeo box B3 |
HOXB2|HOXB3 |
UTR
3 |
17 |
47094926 |
0.36 |
0.26 |
0.34 |
0.32 |
hCV11619715 |
GCTAAAATTCAGGTATTACTGAATTAGCGTTTAATCCACT[T/C]CCTTTCTTCTTCTTCTAAAATATTGGGCACTCGGTTATCT |
G |
G |
C___2906079_10 |
rs999493 |
|
homeo
box B2|homeo box B3 |
HOXB2|HOXB3 |
|
17 |
47100157 |
0.36 |
0.37 |
0.41 |
0.31 |
hCV2906079 |
TGGGAGAAGCTGTTGGATCCAAGCGTAAATAAAACGGTCC[T/C]CAGGCTAATGTGCGGCTCTGTTTCCATCATCCTTGGGAAA |
A |
A |
C___2906065_10 |
|
|
homeo
box B3 |
HOXB3 |
Intron |
17 |
47110287 |
0.09 |
0.19 |
0.2 |
0.1 |
hCV2906065 |
CACAAAGAGTTGAGGAGGCTTGGGGAAGGGAGGGGTCTGC[C/T]GTTGTCTCTGGAACACTCCTCCACTCCCAGCTCAGCTCCA |
A |
A |
C___2411379_10 |
rs733920 |
|
homeo
box B3 |
HOXB3 |
Intron |
17 |
47114341 |
0.16 |
0.36 |
0.24 |
0.1 |
hCV2411379 |
TCTGGCCCTGTGGACCCTGCTGGCCATCTGGGGGAATGCT[T/G]GTCTCCAACTGAGGGGGAGGCAACTGGGAAGGCTGGTAGG |
A |
A |
C___2906056_10 |
|
|
homeo
box B3|homeo box B4 |
HOXB3|HOXB4 |
Intron |
17 |
47118799 |
0.15 |
0.48 |
0.26 |
0.12 |
hCV2906056 |
GGGGGGTATGACTGTGAAGAGGGTGCGTTCTCCCTCAAAC[C/T]GGTGGTCCAGAGTTAGGGCAAAGTCTTGGAGTTTTTGAGA |
G |
G |
C___2906041_10 |
rs4793943 |
|
homeo
box B5|homeo box B6 |
HOXB5|HOXB6 |
|
17 |
47141575 |
0.18 |
0.08 |
0.1 |
0.01 |
hCV2906041 |
GGGTGATCTCTGGCTTTCCGATCTTTGAAGCCCATAAAAA[C/G]AGGTCCCTCCGGTTATCTTTGGCTTCATCAGGCTTCTCTG |
G |
G |
C___2906038_10 |
rs872760 |
|
homeo
box B5|homeo box B6 |
HOXB5|HOXB6 |
UTR
3 |
17 |
47143589 |
0.18 |
0.09 |
0.13 |
0.01 |
hCV2906038 |
GGAGGACCAAAGGGATGGTATTGAGAAGAGAGAAAGAAGA[C/T]AGTGAGATTTAAGTTCCTGCTGCCTGGGTAGGCCCCACAA |
G |
G |
C___2906035_10 |
rs1123630 |
|
homeo
box B5|homeo box B6 |
HOXB5|HOXB6 |
|
17 |
47146454 |
0.18 |
0.09 |
0.1 |
0.01 |
hCV2906035 |
GCCCTGCCGGCTCGGCCTGGGCGCTGTGGACCGGTAACAG[T/C]AGTTCCACCAGGATGCAGGCCGGACTAAGCTCCTGGGGAA |
A |
A |
C___2906014_10 |
|
|
homeo
box B6|homeo box B7|homeo box B8 |
HOXB6|HOXB7|HOXB8 |
|
17 |
47158848 |
0.19 |
0.24 |
0.07 |
0.01 |
hCV2906014 |
TTCACGCCCAGAACATAGGCATTCATGTTCACACACGCTC[G/A]CAAGTAAACACACATTCACACTCACAGACACATTGATACC |
C |
C |
C___2905995_10 |
|
|
homeo
box B7|homeo box B8|homeo box B9 |
HOXB7|HOXB8|HOXB9 |
|
17 |
47172866 |
0.18 |
0.31 |
0.3 |
0.36 |
hCV2905995 |
GGGAGGGAAGGAAATGTGGGTTGTTTGGAGAGGGCACAGG[A/G]TCTGGGGAGCAATGAGGTCCTGAAACCTCCTCATTGACTA |
T |
T |
C___2905991_1_ |
rs2303487 |
|
homeo
box B9 |
HOXB9 |
|
17 |
47179174 |
|
|
0.38 |
0.46 |
hCV2905991 |
AACCTCAAGTAGTTTCTAATTTCAGGACAGATAGTGGATT[A/C]TTGGACACTCAGTCGTTTTATTCACCTCTCTCCTCCTCCC |
T |
T |
C___2411374_10 |
rs718079 |
|
homeo
box B9 |
HOXB9 |
|
17 |
47184473 |
0.3 |
0.25 |
0.36 |
0.4 |
hCV2411374 |
ACAACATTAAACCACCCGATTCACGGCAGTTACTGCTCCT[C/T]GCTTAGCTGGAGGAGTTGGGGGAGGGGAGCAGAATCAGGA |
A |
A |
C___7454215_10 |
rs890435 |
|
|
|
|
17 |
47194037 |
0.36 |
0.21 |
0.38 |
0.48 |
hCV7454215 |
GATCTCAGCGCTCACGACTACCTCGCTGCTCCTAACGAAC[G/A]GTTCATCTGCTCTCTCCTGGCCGCCTGCGCCAGCGCCGCT |
T |
T |
C___2905983_10 |
rs731748 |
|
|
|
|
17 |
47194816 |
0.35 |
0.24 |
0.38 |
0.48 |
hCV2905983 |
AGGAGTTGGAGACCGCTGCGTCCCTCCGCTGCGGACCTGC[C/T]TGGGACTGCGTGGAATGGACCAAGTCCTCCGTCTAGGATT |
A |
A |
C___2905970_10 |
rs972705 |
|
|
|
|
17 |
47208512 |
|
|
0.24 |
0.33 |
hCV2905970 |
GCATTGAACAGAAATTTTATCCCCCTTACTGGCCTCAGGC[T/G]GCAGGCCTCATAGAGTACCATCACAGCATACTTAAACAGG |
C |
C |
C___2905935_10 |
rs3110607 |
|
|
|
|
17 |
47238041 |
0.28 |
0.33 |
0.27 |
0.16 |
hCV2905935 |
AATCATTTGTCAAATACCATTTGGCATATTCTGTTGTTCA[G/A]TCATCTACTCTGCATCTACTCTCGGGTCTCCCTGAACTTC |
C |
C |
C___7454024_1_ |
rs1054072 |
IMS-JST045876 |
homeo
box B13|small nuclear protein PRAC |
HOXB13|PRAC |
UTR
5 |
17 |
47274450 |
0.44 |
0.44 |
0.37 |
0.41 |
hCV7454024 |
ACAGAGCGCCACTGGGAGGCTGAAACCTTTAGGCCGATGC[C/T]TGCTTGCAAGGTCAGGCAAGCTGGATTCTGGTCCCCACCT |
G |
G |
C___1247559_10 |
|
|
hypothetical
protein FLJ35808 |
FLJ35808 |
|
17 |
47311214 |
|
|
0.11 |
0.06 |
hCV1247559 |
GTGGTCCAGGATTCAAGCCCTTGCAGCCTCTATCAGGATG[C/G]CTGGCTGGGGGAGAGAAAAGGAGGCAGATATACCTCAATA |
C |
C |
C___1247597_10 |
rs507973 |
|
hypothetical
protein FLJ35808 |
FLJ35808 |
Intron |
17 |
47337313 |
0.12 |
0.12 |
0.27 |
0.27 |
hCV1247597 |
TCCAGGTTGAGAGCCCCACATTAGAGAGACTTTACTATCG[T/A]CTGCTTTCCTTCTCCTCATCTCTTTTTCACCTACCCCTGG |
T |
T |
C___1247601_10 |
rs3887854 |
|
hypothetical
protein FLJ35808 |
FLJ35808 |
Intron |
17 |
47343348 |
|
|
0.16 |
0.22 |
hCV1247601 |
GGCTGCTGGAGGTAGGGAAGTTTGGGCGAGGGGCGAAAAC[G/A]AACTCCTGTTATTGGGGCCAGCCCGCTTCAAGGATTCCGC |
T |
T |
C___1247604_10 |
rs632824 |
|
hypothetical
protein FLJ35808 |
FLJ35808 |
|
17 |
47352520 |
|
|
0.26 |
0.27 |
hCV1247604 |
TTTCCTTGGCTTGTCTGGAACAAGTTTCAGGGCTTAGCAG[C/A]AAATTAGAAGGAAATGTATTTGCCATCAGGTCAACAGGAG |
G |
G |
C___1247621_10 |
rs489005 |
|
hypothetical
protein FLJ35808 |
FLJ35808 |
|
17 |
47356386 |
0.02 |
0.17 |
0.08 |
0.03 |
hCV1247621 |
ATACTGACTTATCAGGATCCAACTGCAGCTTGTGCATTCC[A/G]GTTCTTGTTTAATATTTCACCATGCCTTGCTCCATTCAGA |
T |
T |
C____589735_10 |
rs510326 |
|
hypothetical
protein FLJ35808 |
FLJ35808 |
|
17 |
47362939 |
0.17 |
0.4 |
0.06 |
0.03 |
hCV589735 |
GTCTACAGGAGGCATTACTGAGCTCTGGTTGATTGCTGGC[A/G]TGAAGGAATAGAGACCTCTCCAAAAGAAATGGAAATCTGC |
T |
T |
C____589763_10 |
rs639679 |
|
nuclear
domain 10 protein |
NDP52 |
|
17 |
47373892 |
0.14 |
0.06 |
0.34 |
0.32 |
hCV589763 |
TTTATTAAGTAAAAAACTTCCTTGGTGCAATGAAACTTCA[C/T]ATATGTTAGTTTCTTTTTTGCTGTAATATAATTGATTCTA |
A |
A |
C___1391678_10 |
rs533842 |
|
nuclear
domain 10 protein |
NDP52 |
Intron |
17 |
47398022 |
|
|
0.34 |
0.36 |
hCV1391678 |
AGGAGTTGAATAGTCTGATTAAGACTACACTGAAAGAACA[C/T]TGGGGAGAGCATTTGAGGTGAGCTGCAAAGGACGAAACTT |
G |
G |
C____589749_10 |
|
|
nuclear
domain 10 protein |
NDP52 |
Mis-sense
Mutation |
17 |
47401253 |
|
|
0.33 |
0.36 |
hCV589749 |
|
#N/A |
#N/A |
C___1242896_10 |
rs962273 |
|
ATP
synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9),
isoform 1|hypothetical protein FLJ13855 |
ATP5G1|FLJ13855 |
|
17 |
47452991 |
0.35 |
0.45 |
0.16 |
0.24 |
hCV1242896 |
CCTTCCCTTCCCTAAAATCCTGGGTCCTATGGCCCTCTGG[A/G]GTAGACCTCCAGGGCCCAGCCTTTTGTCTTGGTTAAATGC |
T |
T |
C___1242898_10 |
rs999474 |
|
hypothetical
protein FLJ13855 |
FLJ13855 |
|
17 |
47462303 |
|
|
0.27 |
0.33 |
hCV1242898 |
AGGGGATTGTATGAAGCAAGCCAGCCAGCAGAGAGTAAGA[C/T]TATCATGGTGGCCTTCTTGCCCAGGGGTGTCTCAGGGTAG |
A |
A |
C___1242899_10 |
rs999475 |
|
hypothetical
protein FLJ13855 |
FLJ13855 |
|
17 |
47462682 |
0.31 |
0.21 |
0.15 |
0.26 |
hCV1242899 |
TCAATGAGGCCAGGGTTTGAGAAAGTGGTGCTTGGTACCG[T/C]AAGTGTTTGTACTGTCTTGTTGGCTGAGAAATCTCAGCTG |
A |
A |
C____587747_10 |
rs318090 |
|
hypothetical
protein FLJ13855 |
FLJ13855 |
Intron |
17 |
47466390 |
|
|
0.3 |
0.35 |
hCV587747 |
CCAAAATCACAGCAGAACATATCCCTGGGTCTGAGCAAGT[T/C]CTAGAAAAATGAATCATGTCTCTAAGTTTATTTCAAATGC |
G |
G |
C___1242900_10 |
|
|
hypothetical
protein FLJ13855 |
FLJ13855 |
Intron |
17 |
47469484 |
0.5 |
0.16 |
0.3 |
0.37 |
hCV1242900 |
CCCCAGAAGAACAGCTGGCTGGGTAGTAGTCCCTACAGAG[G/C]AACTTTAGGGGATGCTGAGAATATAGGCACATAGAACCCA |
G |
G |
C___1242911_10 |
rs957557 |
|
EAP30
subunit of ELL complex|hypothetical protein FLJ13855 |
EAP30|FLJ13855 |
Intron |
17 |
47477859 |
0.5 |
0.15 |
0.3 |
0.35 |
hCV1242911 |
AAAACTCCTTCCATACTTCTGCCCACACATTACCCTCATC[A/C]TGAGTGGGATGGCAGTGGATGCTAGTCACTGTCACTGGGA |
G |
G |
C___7454114_1_ |
|
|
EAP30
subunit of ELL complex|hypothetical protein FLJ13855 |
EAP30|FLJ13855 |
UTR
3 |
17 |
47479831 |
0.49 |
0.16 |
0.3 |
0.35 |
hCV7454114 |
GGCTTTACCAAGACCTTGGTTAAGTCCCAGTCACATTTAC[C/T]TTCTGTCTTACATCTAGAAAAGGGTGAGGAAAGAGGGGAG |
A |
A |
C__15957934_10 |
rs2270574 |
|
EAP30
subunit of ELL complex |
EAP30 |
|
17 |
47496908 |
|
|
0.3 |
0.36 |
hCV15957934 |
GCTTTGCGAATCTTGGCCACTAGCTAAAGGCGGGGTCGCC[A/G]GGCCGGTAGGAACTGGAGACACTCAGCCTCGCGGCAGGAA |
C |
C |
C__15966234_10 |
rs2291725 |
IMS-JST044204 |
gastric
inhibitory polypeptide |
GIP |
Mis-sense
Mutation |
17 |
47513770 |
0.48 |
0.16 |
0.31 |
0.35 |
hCV15966234 |
CAACATCACCCAGAGGGAGGCTCGGGCGCTGGAGCTGGCC[A/G]GTCAAGCTAATAGGAAGGAGGAGGAGGCAGTGGAGCCACA |
T |
T |
C___1242975_10 |
|
|
IGF-II
mRNA-binding protein 1 |
IMP-1 |
Intron |
17 |
47564546 |
0.36 |
0.39 |
0.07 |
0.06 |
hCV1242975 |
CTTGAACCCAAACAAAGAGGGGGTGGATCAGCCTAAAGCT[C/T]CAGCCCTGGTACCTTCCAGAAGCGTCAAAGGATGGAGACT |
A |
A |
C___1242985_10 |
|
|
IGF-II
mRNA-binding protein 1 |
IMP-1 |
Intron |
17 |
47574987 |
0.14 |
0.2 |
0.1 |
0.02 |
hCV1242985 |
GCCATTGGAAGGTTGAGAACGCAGACCTAGTTTAACACCT[A/G]TAACAGGTATTGCTTCGGCCCAGGCCCAGGACCTCCCTCA |
C |
C |
C___1243000_10 |
|
|
IGF-II
mRNA-binding protein 1 |
IMP-1 |
Intron |
17 |
47584636 |
0.31 |
0.41 |
0.08 |
0.06 |
hCV1243000 |
GAGGTAGGATTTTACATAGTATTATTAGATTGGAGAAGGC[A/G]GCATGTTAAGAAGCAAGAAAGCCCAAAGCAAAATGTGGCA |
T |
T |
C____434425_10 |
|
|
IGF-II
mRNA-binding protein 1 |
IMP-1 |
Intron |
17 |
47599540 |
|
|
0.24 |
0.21 |
hCV434425 |
ATATTAATATATCCTGGCTTTATGCATCTTTGGAGGTATC[C/A]TTTACTCTCTTTAAAAAAAAAACGCTGAATTAAAGATTCA |
T |
T |
C___1840690_10 |
|
|
UDP-GalNAc:Neu5Acalpha2-3Galbeta-R
beta1,4-N-acetylgalactosaminyltransferase |
GALGT2 |
Mis-sense
Mutation |
17 |
47685144 |
0.45 |
0.45 |
0.12 |
0.09 |
hCV1840690 |
GCCCCAGGCTGGGTCAGCGCCTCTGAGTTCCAAGCAGAGA[T/G]CCCCGAAGCCCGCACTCCCGAGCCGATTCCCACACTCGGG |
A |
A |
C____514727_10 |
|
|
UDP-GalNAc:Neu5Acalpha2-3Galbeta-R
beta1,4-N-acetylgalactosaminyltransferase |
GALGT2 |
Intron |
17 |
47698645 |
0.11 |
0.07 |
0.49 |
0.48 |
hCV514727 |
AGACACATGGCTTAGCTAGAATTTGAGGATCCCTATGGAG[C/T]AGTCAGCAATGGAAATTAAGAAAAGACAGTGTTGGGCCAG |
G |
A |
C____514728_10 |
|
|
UDP-GalNAc:Neu5Acalpha2-3Galbeta-R
beta1,4-N-acetylgalactosaminyltransferase |
GALGT2 |
Intron |
17 |
47698891 |
0.12 |
0.09 |
0.49 |
0.48 |
hCV514728 |
TTATCATATGTAATTTCATTAGCTGAAGACATCCTGCAAG[G/A]GCAGTGCCAACCTTCAGGGAATCCCTAATCTAAGGAAGGA |
C |
T |
C____404226_10 |
rs1403528 |
|
UDP-GalNAc:Neu5Acalpha2-3Galbeta-R
beta1,4-N-acetylgalactosaminyltransferase |
GALGT2 |
Intron |
17 |
47720444 |
|
|
0.29 |
0.19 |
hCV404226 |
GCTCTTTCATTTCCTGCCTACCCCAGAAAATCTCCTTGGC[G/A]TGAGTAACCCTTACCCAAGACCAAAGAAGGTTATCTTTCC |
C |
C |
C____148385_10 |
|
|
NESH
protein|guanine nucleotide binding protein (Gprotein), gamma transducing
activity polypeptide 2 |
NESH|GNGT2 |
|
17 |
47754400 |
0.19 |
0.24 |
0.49 |
0.33 |
hCV148385 |
GAGAGGAAGAAATTCCTTTCTCTGCTGACTTTCAGGGCCA[A/C]CCTCAGAAGGTCAGTTTCCAGAGAAAGGAGAATCACTATG |
T |
G |
C____148383_10 |
|
|
NESH
protein|guanine nucleotide binding protein (Gprotein), gamma transducing
activity polypeptide 2 |
NESH|GNGT2 |
|
17 |
47755290 |
0.19 |
0.26 |
0.49 |
0.32 |
hCV148383 |
TTCTAGATAACAGACACATGGTGAGATCAGCAAATCCTGT[G/T]GACAGTAGCCCCAACCTTATTTCTTTGTGTTTCTTTGGTA |
A |
C |
C____347180_1_ |
|
|
NESH
protein|guanine nucleotide binding protein (G protein), gamma transducing
activity polypeptide 2 |
NESH|GNGT2 |
|
17 |
47761649 |
0.07 |
0.06 |
0.28 |
0.31 |
hCV347180 |
ATAAGAGGACCTCCCATTGACCATATTGGTCCCTTAACTT[C/T]TGCTCCTCCAGCGGGTCCCTTGTCATTGGATGGGTGTCAA |
G |
G |
C___2577200_1_ |
rs2072152 |
|
NESH
protein|guanine nucleotide binding protein (G protein), gamma transducing
activity polypeptide 2 |
NESH|GNGT2 |
|
17 |
47761926 |
0 |
0.08 |
0.22 |
0.29 |
hCV2577200 |
GGATTTGAGAAGCACCAGGTTCAAATTTCAGATCAACTTG[T/C]GGTTTTAGGAAGCAGCGGTGGACAGAGCACTGAGCCTGCC |
A |
A |
C___2270056_1_ |
|
|
|
|
|
17 |
47804343 |
0.25 |
0.42 |
0.22 |
0.18 |
hCV2270056 |
ATCGTCATGACAGGAGCATCAGTGAAACTGCTGGCCTGGT[G/A]TCGCCTCCTGGGCCTGGACTCCATGTCCTTTGTCTGTCCT |
C |
C |
C___2577157_10 |
|
|
|
|
|
17 |
47821167 |
0.45 |
0.33 |
0.44 |
0.49 |
hCV2577157 |
GGACCAGAGTAATGAGGGATGCTCCCCTGGAGTCAGAAAT[A/G]TGGAACTGAAAAATAAGGACAGTTGTGGAAATTACTTTTC |
T |
C |
C___2577122_1_ |
rs2240300 |
IMS-JST011822 |
KIAA0924
protein |
KIAA0924 |
Intron |
17 |
47852159 |
0.19 |
0.17 |
0.23 |
0.38 |
hCV2577122 |
AATTGTCTGCAGAAATGCCATAGCACTCATTGAGAAACAC[C/T]GTGGTGTGAAATTCATGTTGTAGGTTTGTTAAGCCAGTAT |
G |
G |
C____349771_10 |
|
|
KIAA0924
protein |
KIAA0924 |
Intron |
17 |
47864573 |
0.23 |
0.16 |
0.24 |
0.13 |
hCV349771 |
GGAATTGCCCTAATCAGTTTTGACATGTTGAAACTGAATG[C/A]ATTATGTCTTCAGTAAGTATCACCAAATTGGATGGTATAG |
T |
T |
C___2577107_10 |
rs2960162 |
|
KIAA0924
protein |
KIAA0924 |
Intron |
17 |
47870635 |
|
|
0.25 |
0.43 |
hCV2577107 |
GACTGTAAAGATCTTGTGGATAGAGACCGTATATTTTGCC[A/T]TATCAGCATATTGCGTAGTATCTAGGAAAATGAATGCTGT |
A |
A |
C___1121246_10 |
rs747039 |
|
KIAA0924
protein |
KIAA0924 |
Intron |
17 |
47881551 |
0.48 |
0.42 |
0.49 |
0.45 |
hCV1121246 |
TTTTTATTAGATGAGACTGTAGTTCTGTTTCTTGACCATA[T/C]AAAATGTATGCATCTGAGAACAGCTTGTAATGCTTATCCA |
A |
G |
C__11620508_1_ |
rs2233659 |
IMS-JST074639 |
prohibitin |
PHB |
|
17 |
47967225 |
0.44 |
0.22 |
0.32 |
0.46 |
hCV11620508 |
CCGGGAAAGAGGAGGTGGGCGTCCAGCTGGTGGCAAAAAT[T/G]AGTAGGGGCAAGTTCATGGCTGATGAAGAGGACAGGTGGA |
G |
G |
C___2662819_10 |
rs1035050 |
|
nerve
growth factor receptor (TNFR superfamily, member 16) |
NGFR |
|
17 |
48038650 |
|
|
0.18 |
0.26 |
hCV2662819 |
TGCCTGCTCCCAATCTCCCCATCTTTGTATTGATGTAAGC[T/C]TCACCTCTCTGCCCACTGGCATCCGAACTCCCCTGAGGGA |
T |
T |
C___2662826_10 |
rs600120 |
|
nerve
growth factor receptor (TNFR superfamily, member 16) |
NGFR |
Intron |
17 |
48052122 |
|
|
0.09 |
0 |
hCV2662826 |
CTCAAAAAGACAAAAGTGTGGTAATTTGGGAAAAGAACAA[A/G]AGAGTTTCCCTGTATTGCAGCCCAGAGTAATCGCTGGTGT |
G |
G |
C___2662837_10 |
rs613495 |
|
nerve
growth factor receptor (TNFR superfamily, member 16) |
NGFR |
Intron |
17 |
48059367 |
|
|
0.14 |
0.01 |
hCV2662837 |
CAACCGTGTTCCGCAGTTTAGTGAAGGATGAGGGGCATGC[A/C]GGGAACACTAAGGAGGGGCTCTGTGGAAGAAGAAGGAGGG |
C |
C |
C___2662847_10 |
rs2671641 |
|
nerve
growth factor receptor (TNFR superfamily, member 16) |
NGFR |
|
17 |
48072365 |
0.14 |
0.27 |
0.14 |
0.09 |
hCV2662847 |
AGGGTGATCCCACCCAGGCTCAACTGGAAGTCAGGGTTTT[G/C]CACAATAATCCCCACTCCCCAATTCCCATGATACTCCAGC |
C |
C |
C____347732_10 |
|
|
neurexophilin
3 |
NXPH3 |
Intron |
17 |
48130328 |
0.23 |
0.07 |
0.06 |
0.02 |
hCV347732 |
GGGGTAGGAGCCGTTGTCCCTGGTGCCACAGTTCACTGGA[A/G]AGAATTATTGTCGGTCTTTGAGACTTTGAATTTGAATAGT |
A |
A |
C___7922177_1_ |
rs2304916 |
IMS-JST062041 |
C/EBP-induced
protein |
LOC81558 |
Intron |
17 |
48272153 |
0.25 |
0.1 |
0.32 |
0.47 |
hCV7922177 |
ATTATATGGGGATGGGGGTAGAAGAGAGGGAGATTCAGAA[T/C]GGCAAGAAGCCCTTCCAATATCACACAGCAAGACCAAGTT |
C |
T |
C__16101465_10 |
rs2120106 |
|
C/EBP-induced
protein |
LOC81558 |
Intron |
17 |
48299243 |
0.25 |
0.24 |
0.29 |
0.47 |
hCV16101465 |
TTGTGGGCTCCCAGATGATCTCTCCCACCTCCTCTACCAC[A/G]CAGGAGAATATAAATAGCACTCAGTTTACCTGTGGCTAGC |
A |
G |
C___7476493_10 |
rs878829 |
|
C/EBP-induced
protein |
LOC81558 |
Intron |
17 |
48301005 |
|
|
0.46 |
0.32 |
hCV7476493 |
CACCCCTCCTTGGGCCCTGTGGTTAATGAAAGGTTTTCAC[T/C]GACTAAAAATGAGCCATCTCTTTGTGCATGAAGTTGTAAC |
T |
C |
C__15969038_10 |
rs2279954 |
|
MYST
histone acetyltransferase 2|histone acetyltransferase |
MYST2|HBOA |
Intron |
17 |
48373119 |
|
|
0.01 |
0.08 |
hCV15969038 |
TCCTGGGCTAAAGTAGTGCCAGAATGTAATCCAGAATACT[T/A]GTTCCAGATTGCTATAAAAGTGTCATAAATATATTCAAAT |
A |
A |
C___2902965_10 |
rs271658 |
|
|
|
|
17 |
48485215 |
|
|
0.11 |
0.17 |
hCV2902965 |
CCCCATGTCTGGGTTAGGGTCCCCGCTTCATGCTCTCACA[A/G]CTCCTGAATTTTGGCACCATAACCCCATCACACTGTACTG |
G |
G |
C___2902957_10 |
rs172033 |
|
|
|
|
17 |
48490821 |
0.21 |
0.18 |
0.2 |
0.39 |
hCV2902957 |
AGGGGCGGCTTGCTTCATTGCCCATTTGCTGCTGGACCCC[A/G]GAGCATGACCCACAAAGGCTTCCTCTGCCTGAGACTCCAG |
G |
G |
C___2902955_10 |
rs271661 |
|
|
|
|
17 |
48492973 |
|
|
0.47 |
0.47 |
hCV2902955 |
ACAAGGACATGCTCTGCCCAGAGCTGGTGGAACCACAGCA[A/T]TGGACCACCCCAAGCTCCCGACATGGTAGCTGGCTCTGTC |
T |
T |
C___7476716_10 |
rs919089 |
|
distal-less
homeobox 4 |
DLX4 |
Intron |
17 |
48522059 |
0.22 |
0.49 |
0.25 |
0.24 |
hCV7476716 |
GCTAGGCCCCCATCCCCACATCTGGATTGCTTCAGTTTTC[C/T]GTTACTAGTAGGTACAGACAGCCCCGCTGCTCCAGGTGGG |
G |
G |
C___3293171_10 |
rs199143 |
|
integrin,
alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) |
ITGA3 |
|
17 |
48601903 |
|
|
0.11 |
0.22 |
hCV3293171 |
TTCAGTTGCTGAATCCAAGTTCCTGATTGGAAGTTCCTCA[A/G]GCACCAGCACTTGGGGCACCCGAGTGCTCTGCTCCAGGGG |
C |
C |
C___3293175_10 |
|
|
integrin,
alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) |
ITGA3 |
Intron |
17 |
48609807 |
0.11 |
0.29 |
0.48 |
0.38 |
hCV3293175 |
AACCAAGGCGGGGGCAGAGTTTGGACTTTGGACATTCTAA[A/G]CTTCCTCAAGCTCTGCAGGCCCCAGCCAGAGCAGGGAGAT |
C |
C |
C___2539685_1_ |
rs2301628 |
IMS-JST057751 |
integrin,
alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) |
ITGA3 |
Intron |
17 |
48623051 |
0.41 |
0.11 |
0.09 |
0.04 |
hCV2539685 |
GAGCTTGGAACAGGGCCTGGCATACAGGTGCCGGCCAATC[C/T]GTGTGTGCTAGTTTAACTAAATGCCATTAGTCACAACTGC |
A |
A |
C___7476798_1_ |
rs2301624 |
IMS-JST057747 |
integrin,
alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) |
ITGA3 |
Intron |
17 |
48632246 |
|
|
0.33 |
0.31 |
hCV7476798 |
TGGGCACGCCCTGTGGCACAGGTCTGAGGCGGGCAGGGAA[C/T]GCAAGACGTGACATAGTCTGAGTCTCCAGATTCTTCATGC |
A |
A |
C___2539676_1_ |
|
|
integrin,
alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)|pyruvate
dehydrogenase kinase, isoenzyme 2 |
ITGA3|PDK2 |
UTR
3 |
17 |
48641936 |
0.11 |
0.16 |
0.49 |
0.4 |
hCV2539676 |
CTACGTTGCCGTTTGCCTGTCTTTGTTCCTTCCTGCTGCA[C/T]TCCCTGCGAGTTCAGTCTGTGGCCAAGGAGAGAGGCTTCA |
G |
A |
C___2539656_10 |
|
|
integrin,
alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)|pyruvate
dehydrogenase kinase, isoenzyme 2 |
ITGA3|PDK2 |
Intron |
17 |
48651864 |
0.1 |
0.01 |
0.34 |
0.34 |
hCV2539656 |
CATTCTCTCTGGAAACATTCTTGGCAGGCTGTCTCTTCAG[C/T]GCGTTGGGATGCTTTAGCAATCCCTCGGCCTGCTCTCCTC |
A |
A |
C___7476856_10 |
rs847685 |
|
hypothetical
protein LOC201191 |
LOC201191 |
Intron |
17 |
48675472 |
0.11 |
0.03 |
0.32 |
0.32 |
hCV7476856 |
TGCTGATATGGCCCAGAGTCAGGAGCAAGGGACCCCTCTC[C/G]CTGTTTTGAGTTGGCTGGGCACCAGCTAGGTGCCAGAAGG |
C |
C |
C___2539631_10 |
rs847682 |
|
hypothetical
protein LOC201191|protein phosphatase 1, regulatory subunit 9B, spinophilin |
LOC201191|PPP1R9B |
|
17 |
48682912 |
|
|
0.49 |
0.45 |
hCV2539631 |
CTCCTAGTCCAGCAGGTCCCCAAATCCTGTCAGCTTCTTC[A/G]GTGTCAGCTTCTTCAGGCCTGCATCCTGAAGGGCTCTCAG |
T |
C |
C____329650_10 |
|
|
hypothetical
protein LOC201191|protein phosphatase 1, regulatory subunit 9B, spinophilin |
LOC201191|PPP1R9B |
Intron |
17 |
48688315 |
0 |
0.06 |
0.02 |
0.07 |
hCV329650 |
TTCTCAGGCTCAGCCAAAGAGGGTTAGTAGTTGGGGTGCA[A/G]TGGACTCCACAACGGTAGGAATCCCCTGGCGACTCTGGCC |
C |
C |
C___7476875_10 |
|
|
protein
phosphatase 1, regulatory subunit 9B, spinophilin |
PPP1R9B |
|
17 |
48704079 |
0.36 |
0.39 |
0.47 |
0.47 |
hCV7476875 |
CTAGGGCCCATTGTGTTCACCAGTTTCTGGGATGTGTGGA[C/A]TGAACCAGCTCACCTGGACCTGTCCAGAGGGCGGACTCTC |
G |
T |
C___7477118_10 |
rs867184 |
|
collagen,
type I, alpha 1|sarcoglycan, alpha (50kDa dystrophin-associated
glycoprotein)|spermatid-specific linker histone H1-like protein |
COL1A1|SGCA|HILS1 |
|
17 |
48736031 |
|
|
0.46 |
0.49 |
hCV7477118 |
TTCTTTGGAGTTGGGGGAGGGGTAGACATGGGGAAGGGGC[C/T]TTGGGGTGATGGGCTTGCCTTCCATTCCTGCCCTTTCCCT |
A |
G |
C___1844021_1_ |
rs2277632 |
|
collagen,
type I, alpha 1|spermatid-specific linker histone H1-like protein |
COL1A1|HILS1 |
Intron |
17 |
48738541 |
|
|
0.33 |
0.36 |
hCV1844021 |
TGCCCATATGTGCCCCTACCATATGGTGCTGGCTGCTCCC[T/C]TTCCCTGACTCCATCTTGCCCTGCCCTACCACAGGAGAGT |
G |
G |
C___1840241_1_ |
rs2734279 |
IMS-JST003168 |
collagen,
type I, alpha 1 |
COL1A1 |
Intron |
17 |
48748929 |
0.1 |
0.22 |
0.3 |
0.43 |
hCV1840241 |
AGCATACCCCCATCCAGTCCCAGCCTCTTCCCCAAAAGAT[A/C]CTGAGTTGCATCATGGTGGGTGGCAGCTACAGAAGTCCCA |
T |
G |
C__11612304_1_ |
rs2269336 |
IMS-JST023457 |
collagen,
type I, alpha 1 |
COL1A1 |
|
17 |
48754994 |
0.1 |
0.29 |
0.33 |
0.42 |
hCV11612304 |
GAATGGGACATGGAGGAAGAAAGGACGTGGAGTTCTAGAG[G/C]CATCTTCCTTAGATATAGCCTGCTGTCCTTCGGGTCCCCA |
C |
G |
C___7922862_10 |
rs2030962 |
|
|
|
|
17 |
48769748 |
0.2 |
0.4 |
0.36 |
0.23 |
hCV7922862 |
CCAAGCTGGATCAGCCAAATTCAAATTAGAGGATGCACAA[C/T]GTTGGAGAATGTGACAGTTATTAAGAACAAAATGGGGCTG |
G |
G |
C___1809430_10 |
rs1881143 |
|
hypothetical
protein FLJ33318 |
FLJ33318 |
Intron |
17 |
48829221 |
0.42 |
0.36 |
0.43 |
0.44 |
hCV1809430 |
GCAGCTGCACTCCCTCCCCTTTCGCTTCCCCTAGTTCTTT[C/T]TCTTCCTCTCACACACACCCGCTGGGAGTTCCCTGAACAT |
G |
A |
C___7922949_10 |
rs728230 |
|
hypothetical
protein FLJ33318 |
FLJ33318 |
|
17 |
48834059 |
0.27 |
0.13 |
0.24 |
0.13 |
hCV7922949 |
TGAAATTCTCCGTCACTGTGAAACTGCTCATTCACCCAAC[C/T]AGCCAGCTCACTGTTTCTGTCATTCATTATACACCTCATA |
A |
A |
C___2265429_10 |
rs732967 |
|
|
|
|
17 |
48883190 |
0.33 |
0.34 |
0.06 |
0.03 |
hCV2265429 |
CCTTGAGGAGGGGCAGCAGTTCCACCACCAGGCATTCTGG[G/A]AAGAGCTAGGTCCCATCATGAAATATCAGAAACTGGGAGG |
T |
T |
C___2564497_10 |
|
|
xylosyltransferase
II |
XYLT2 |
|
17 |
48896697 |
|
|
0.03 |
0.06 |
hCV2564497 |
ATTTGATGGTACATAAATAACCTCCTTTAATCGTCTTCTG[C/T]GCTTTAGCATTTGTAATCATTCTGTTCCTCCGCGTTTGTT |
A |
A |
C___2564493_10 |
rs739992 |
|
xylosyltransferase
II |
XYLT2 |
Intron |
17 |
48904929 |
0.46 |
0.41 |
0.09 |
0.08 |
hCV2564493 |
GCAAAGGAGACGGCCATGCAAGGAGAGGGGCAAGAAGAGC[G/A]TCCACCTCCAGCACAGCCTCGAGGAAGTCCTGGCCGGCTC |
T |
T |
C___2564488_10 |
|
|
xylosyltransferase
II |
XYLT2 |
Silent
Mutation |
17 |
48908596 |
|
|
0.09 |
0.07 |
hCV2564488 |
AGTAGGCCTTGAGGGCTGGCGTGCCGGGGGGGTAGCTGCC[A/G]TACAGGTGGAAGTCCAGGATTTCCAGCACCTCCTGGTTCA |
C |
C |
C___2564487_10 |
|
|
mitochondrial
ribosomal protein L27|xylosyltransferase II |
MRPL27|XYLT2 |
Mis-sense
Mutation |
17 |
48912094 |
0.37 |
0.21 |
0.1 |
0.14 |
hCV2564487 |
CCTGTCTGTCCAGGCCTCGAGCGCAGGGCCTGTGAGCTGT[G/C]TGTGCCGCTGGGCAGCCTCCTCCGCGAGCTCCGGCTGAGG |
G |
G |
C___2564454_1_ |
rs757509 |
IMS-JST074633 |
hypothetical
protein PRO1855 |
PRO1855 |
Intron |
17 |
48944362 |
0.41 |
0.46 |
0.17 |
0.22 |
hCV2564454 |
AACAAGGTAAGCACCAAGCTCCCTCCCAGTGGCTCCTTAT[A/G]CACTCCCTGGGATTTCTCCTCCTCCTGTTTTTCCCTCCTA |
C |
C |
C___7477236_10 |
|
|
hypothetical
protein FLJ20920 |
FLJ20920 |
Intron |
17 |
48981345 |
0.35 |
0.49 |
0.19 |
0.24 |
hCV7477236 |
AGAGGCCACCAATCAGGGGATCCTCTCCTACTTTCAAATC[T/A]GTCAGAATTCCCACCCAGACACCAGTCAAGGGTTTCCAGG |
A |
A |
C__11622219_10 |
|
|
hypothetical
protein FLJ20920 |
FLJ20920 |
Intron |
17 |
48984603 |
0.34 |
0.31 |
0.2 |
0.23 |
hCV11622219 |
GAGAGGCACTGGCAGAATTGTTCCTACCCTTCGTTATTAG[A/G]ACAGTCCCATGGCAAGGCCAACCCAGAAGATGAAATTACA |
C |
C |
C___1696945_1_ |
rs3744522 |
|
chondroadherin|hypothetical
protein FLJ20920 |
CHAD|FLJ20920 |
Intron |
17 |
49015598 |
0.34 |
0.19 |
0.21 |
0.26 |
hCV1696945 |
GAGGCAGCTTGGAAAGGTGTCAGGGCCCAGGAGTGAGGAA[C/G]AAGAGGGTTTTATCAGCCCACAAGTAGCCTGTCCACCAGT |
G |
G |
C___7477237_10 |
|
|
chondroadherin|hypothetical
protein FLJ20920 |
CHAD|FLJ20920 |
Intron |
17 |
49016345 |
0.34 |
0.23 |
0.22 |
0.28 |
hCV7477237 |
GAACATCTGGCCTGGACTCATCCCCATGTCTGTCCATCTG[C/T]TGTCATCCCAGGCCTGGCCTGCCCACAGCCCGGGCCGCAG |
A |
A |
C___1696938_10 |
rs736911 |
|
chondroadherin|hypothetical
protein FLJ20920 |
CHAD|FLJ20920 |
IntronIntron |
17 |
49019886 |
|
|
0.21 |
0.31 |
hCV1696938 |
GCTATCTCCAAGGTGAGCAGCTCTGCCACCTCCCTTCCTC[A/G]CCTTGTCACATCCCTACCCTAATCCCTGTCTGCTGCCAGT |
T |
T |
C___1696929_10 |
|
|
hypothetical
protein FLJ11164 |
FLJ11164 |
|
17 |
49040210 |
0.3 |
0.1 |
0.1 |
0.13 |
hCV1696929 |
GATGTGAAATGAAGGCCCCCCTTCCCACTTTGTCACAGGA[C/A]ACTGGAAATAGCCATGTCTCCCTTTCCTCCTGCCCCCAGC |
T |
T |
C___7567941_1_ |
rs898451 |
IMS-JST043003 |
epsin
3|MYCBP associated protein|hypothetical protein DKFZp434N1415 |
EPN3|MYCBPAP|DKFZp434N1415 |
Intron |
17 |
49079924 |
0.35 |
0.14 |
0.16 |
0.07 |
hCV7567941 |
GGGTGGCAACCAAGAAAAAAATGGCCCAGGACTAGGGTTA[G/C]GAGGCCTGCATGAATTCAGTCCTACTTCAGAGGGCTTGAG |
C |
C |
C___7567950_1_ |
rs898452 |
IMS-JST043004 |
epsin
3|MYCBP associated protein|hypothetical protein DKFZp434N1415 |
EPN3|MYCBPAP|DKFZp434N1415 |
Intron |
17 |
49080057 |
0.37 |
0.22 |
0.16 |
0.07 |
hCV7567950 |
GCAGAGGCTTGGGTCCCTCCCTTCAAAGACCCTGGTGCCA[C/T]GAGCTGCTGTGGAAATGCCACACCCCTGAACAGCCAGCAT |
G |
G |
C___3075197_1_ |
rs2240219 |
|
calcium
channel, voltage-dependent, alpha 1G subunit|hypothetical protein FLJ21347 |
CACNA1G|FLJ21347 |
Intron |
17 |
49118353 |
|
|
0.11 |
0.11 |
hCV3075197 |
ACACGTAAGCATAAACGGACAGGGAAGAGACCAAGGCACA[C/T]GACAATTTGGGACACTCTGAATAGAGGAATAATTAATGGG |
G |
G |
C___3075188_10 |
rs198553 |
|
calcium
channel, voltage-dependent, alpha 1G subunit |
CACNA1G |
Intron |
17 |
49132920 |
|
|
0.47 |
0.5 |
hCV3075188 |
CCTTGCTGCCTTCCCTGGCAACCCCCCACTCCCAGCCTGC[C/T]CAGGCTCCAGGGCCCAGATGGCGGGACGTTCACGCCGCAG |
A |
A |
C___3075171_1_ |
rs2240221 |
|
calcium
channel, voltage-dependent, alpha 1G subunit |
CACNA1G |
Intron |
17 |
49141256 |
|
|
0.08 |
0.07 |
hCV3075171 |
AAGGGTTTGTGGAGTCTCCCCAGCCAAGGGTCTAGGTGGT[A/G]TGGCACGGGGTGGGGGGATCATGAGCAACCTCAGCCTGGT |
C |
C |
C___2567992_10 |
|
|
calcium
channel, voltage-dependent, alpha 1G subunit |
CACNA1G |
Intron |
17 |
49166960 |
0.34 |
0.28 |
0.07 |
0.03 |
hCV2567992 |
AACAACTGGTCTCCTCAGGCTCAGAGGACGCGCCATCAAC[A/G]GGGAGGCAAAGGCTTTTGCTCCTTCACCAAGCTCAGCCCC |
C |
C |
C___2567993_10 |
|
|
calcium
channel, voltage-dependent, alpha 1G subunit |
CACNA1G |
Intron |
17 |
49167012 |
0.34 |
0.4 |
0.07 |
0.03 |
hCV2567993 |
ATAACACCCTCGACTCAGTGTTCCGCAGCAAGGCCAGATC[A/G]ATACGATGAAAAACAACTGGTCTCCTCAGGCTCAGAGGAC |
C |
C |
C__11879175_10 |
rs4794172 |
|
calcium
channel, voltage-dependent, alpha 1G subunit |
CACNA1G |
Intron |
17 |
49173544 |
|
|
0.08 |
0.04 |
hCV11879175 |
TCTCTCTCAGTCCCCACTTCCCCCTTTTCACGAAGCACAG[G/T]GGGGCGGGAAAAAGGCATCCCTTCTCTCTCCCCACCCTTT |
A |
A |
C___7568015_10 |
rs1541392 |
|
ATP-binding
cassette, sub-family C (CFTR/MRP), member 3 |
ABCC3 |
Intron |
17 |
49194527 |
0.14 |
0.27 |
0.12 |
0.18 |
hCV7568015 |
GAGAATGAACAGCAAAGCACTTCGATGGCAACGGGACAAC[A/C]CTCAGGGAAGCGGGTGATGGAGCCTCCAGCTGTCAGGCCC |
G |
G |
C__15756795_10 |
rs2301837 |
IMS-JST058030 |
ATP-binding
cassette, sub-family C (CFTR/MRP), member 3 |
ABCC3 |
Intron |
17 |
49212904 |
0.08 |
0.07 |
0.11 |
0.18 |
hCV15756795 |
CAGGTGCTGCTGAAGCCTTGTGTCTGGTCCAGGGAGGAAG[A/G]AGCAGTGGGTTAGGAATGGGGACAGGGGCTCCAGGAAGCC |
T |
T |
C___2649485_1_ |
rs2072366 |
|
ATP-binding
cassette, sub-family C (CFTR/MRP), member 3 |
ABCC3 |
Intron |
17 |
49227528 |
|
|
0.36 |
0.13 |
hCV2649485 |
GGGAGTGTCAGGGAGAAACCTGCACCCCATCTGGCAGGGC[C/T]TGGGGAGGCCTGATACAGCCTCCAGGAGGGCTGGGAGCTC |
G |
G |
C____334514_10 |
rs872793 |
|
ATP-binding
cassette, sub-family C (CFTR/MRP), member 3|hypothetical protein MGC15396 |
ABCC3|MGC15396 |
Intron |
17 |
49236518 |
0.03 |
0.34 |
0.16 |
0.07 |
hCV334514 |
AAAATTGCCTGTAGGGGAGTGATAAACCTCAGCTTTGCCA[A/G]TCACGAAGACCTCTGTTGAAGCAGGAACCAGAGCCACTAA |
C |
C |
C___7568032_10 |
rs8196 |
|
ATP-binding
cassette, sub-family C (CFTR/MRP), member 3|hypothetical protein MGC15396 |
ABCC3|MGC15396 |
|
17 |
49245597 |
0.33 |
0.22 |
0.15 |
0.19 |
hCV7568032 |
CTGGCTGGGAGATGGCCTCCAGAGGAGCAGCTGCAGGGCA[C/T]GTTCTGGGCTTAGCGACAGAGGCAAGCAAGGGACTGGTGT |
G |
G |
C__16180250_10 |
rs2286650 |
IMS-JST037256 |
ATP-binding
cassette, sub-family C (CFTR/MRP), member 3|hypothetical protein MGC15396 |
ABCC3|MGC15396 |
Intron |
17 |
49252936 |
0.33 |
0.22 |
0.14 |
0.16 |
hCV16180250 |
CTTACCTTCTGGAGGCTATTGAAATTAAAACTCCTAGGTT[G/A]AGTTAGTTTTTCTCAGGAGCCAGAAATGAAATTTAAAAAC |
C |
C |
C___2649494_10 |
|
|
hypothetical
protein MGC15396 |
MGC15396 |
|
17 |
49260854 |
|
|
0.14 |
0.16 |
hCV2649494 |
GCAGATCCCAGCAGCCCCAAGAGACGGAAATGAAAACTCC[A/G]TGCCTAAATTTATCCCTTCCTATTTCATCTCTCCTTGTTC |
C |
C |
C___2957320_1_ |
rs2302288 |
IMS-JST058611 |
acid-inducible
phosphoprotein|cisplatin resistance-associated overexpressed protein |
OA48-18|LUC7A |
Intron |
17 |
49298453 |
0.36 |
0.12 |
0.4 |
0.34 |
hCV2957320 |
GTAAAGGCCTTGGAGTAGATGCTATTAATTAACAAGACTA[G/A]GCAAAACTTACCCTCTAAAACATATTTACATTAGAAATCT |
T |
T |
C___2649529_10 |
|
|
acid-inducible
phosphoprotein|hypothetical protein FLJ20694|cisplatin resistance-associated
overexpressed protein |
OA48-18|FLJ20694|LUC7A |
|
17 |
49307075 |
0.37 |
0.16 |
0.43 |
0.36 |
hCV2649529 |
AAAAAATCCCTCAGGAAATCAAACTTGAAAACCAATCCTG[C/A]ATGAAGTCCCATCCCACAGAATTGTATACATAATAACTTC |
T |
T |
C___2649535_10 |
|
|
hypothetical
protein FLJ20694 |
FLJ20694 |
|
17 |
49321253 |
0.34 |
0.08 |
0.49 |
0.28 |
hCV2649535 |
TGCCAAGGCCTGTGTGGCAGTTGATTGTCCCCCCAACACA[C/T]TTTGCCTTCTTCCTTCCTAATCGGCTCTGATTTTTAGTAC |
A |
A |
C___2649564_10 |
|
|
|
|
|
17 |
49344396 |
|
|
0.18 |
0.27 |
hCV2649564 |
CATTTCTGGATGCCAGCAACCACGTGCGAAATTCACAGTT[A/G]GACACAGTTCTCCAGCCTGATTCTTCTGCTGTCCGCCCTC |
C |
C |
C__11878987_10 |
|
|
|
|
|
17 |
49360400 |
|
|
0.49 |
0.43 |
hCV11878987 |
ACACAAACAATGAAATATTTTCTCTGCCTAAAAGAAGTAT[G/A]ATAATATAGTTTTGAGTGATGCAAAATGCCAGAAGGTTTG |
C |
C |
C__11878962_10 |
rs740781 |
|
|
|
|
17 |
49373860 |
0.26 |
0.3 |
0.41 |
0.44 |
hCV11878962 |
ATCTCTCACCCATGCCTACACCACCACCAGGAAGGAGGCT[C/T]TGATTTTTGCCTTCTATTTCAGAAAGGCTTGCTTTGCACT |
A |
A |
C___1124292_10 |
|
|
WFIKKN-related
protein |
WFIKKNRP |
Intron |
17 |
49390482 |
0.28 |
0.27 |
0.45 |
0.43 |
hCV1124292 |
TTTCATGTGGTGTTTTCGACAATAACACATCGTACCCACT[C/T]GGCAGGCAGGCAACGCTCCTAATCCTCCACCAGGTAGTAA |
A |
G |
C___1124275_10 |
|
|
WFIKKN-related
protein |
WFIKKNRP |
|
17 |
49394739 |
0.31 |
0.39 |
0.49 |
0.38 |
hCV1124275 |
CCCTAGTGAGTCACAGCTGGCAGCTGTCCTTGCCTGCTCC[A/G]TTCCCATCTCCTCCACCTTCTCGCCTCTGAACTTGACACC |
C |
T |
C____159174_10 |
|
|
transducer
of ERBB2, 1 |
TOB1 |
Mis-sense
Mutation |
17 |
49415060 |
0.26 |
0.24 |
0.43 |
0.48 |
hCV159174 |
CCTTTGATGTGTTTGCAGCCTATGGAGGCCTCAATGAGAA[G/A]TCTTTTGTAGATGGCTTGAATTTTAGCTTAAATAACATGC |
T |
T |
C__11611917_10 |
|
|
transducer
of ERBB2, 1 |
TOB1 |
|
17 |
49420698 |
0.42 |
0.21 |
0.16 |
0.03 |
hCV11611917 |
TATCAGATGACTGCTCTCATATTTCAAATCTGGAATTACA[A/G]ATTGAAGACATTCAGAAAAGAGAACTTGTCCCTTCTCTTT |
T |
T |
C____320561_10 |
|
|
sperm
associated antigen 9 |
SPAG9 |
|
17 |
49550802 |
0.23 |
0.11 |
0.14 |
0.2 |
hCV320561 |
AGGCACCCGCCATTCTAAGCAATAGTTTCTCTTCACTGAA[T/A]GTCTGAGTTTGGCTACGAGTTACTGCTAAGGCTACAGCGT |
T |
T |
C___2600075_10 |
|
|
sperm
associated antigen 9 |
SPAG9 |
|
17 |
49555607 |
0.24 |
0.11 |
0.15 |
0.19 |
hCV2600075 |
TGACTTGAGCCATGTTCCCTTGAGGTCTTACCCCTGTGCT[T/C]ACTCTATATTCACATACTCTGTCTAAGAGTAATTCTGGCT |
A |
A |
C___2600086_10 |
|
|
sperm
associated antigen 9 |
SPAG9 |
|
17 |
49574584 |
0.23 |
0.11 |
0.14 |
0.19 |
hCV2600086 |
GTGGCTGTAAACTTTTTGTCAGTTTCTCTTTTCTTAAAAC[C/T]TGGGTGCTCCAAAAGAACTGCTTCATTTTTGATAGCCACT |
A |
A |
C__11936873_10 |
rs2041319 |
|
sperm
associated antigen 9 |
SPAG9 |
|
17 |
49600171 |
0.5 |
0.4 |
0.14 |
0.23 |
hCV11936873 |
GGCAGTTTATGTACTTTATATTCTTGAAGTTTTTACTTTC[A/T]TATTCAGCTTGTCTGTCATATGATTCCTTATCTAAGACTC |
T |
T |
C___2646830_10 |
|
|
sperm
associated antigen 9 |
SPAG9 |
|
17 |
49652269 |
0.23 |
0.49 |
0.14 |
0.22 |
hCV2646830 |
CTTTAAAAAATACTTTTATCTTGGGATAGGAATTCAGTCC[G/A]TAATTGGCTCAGTTTTAACCATCCTTAACCTAGCCAAGGG |
C |
C |
C___7568097_10 |
rs1005513 |
|
sperm
associated antigen 9 |
SPAG9 |
|
17 |
49671556 |
0.22 |
0.38 |
0.15 |
0.21 |
hCV7568097 |
AGTTTCCTTCTTAGACTGCTGTTTATACGTGCATTTGGCC[A/G]CCTGTTAACTCTAGCACCCGAGCAGTGACCTGGGCGCCCT |
C |
C |
C___2646905_10 |
rs2159359 |
|
non-metastatic
cells 1, protein (NM23A) expressed in|non-metastatic cells 2, protein (NM23B)
expressed in |
NME1|NME2 |
Intron |
17 |
49713674 |
0.23 |
0.33 |
0.19 |
0.28 |
hCV2646905 |
AGAGATAGTCACATGACCAAGACCAGAAGGATTAAAATGC[G/T]CCCATTGCCAGAAATCTACAGCCACAGCAGCATAAAAGCT |
A |
A |
C___2646909_10 |
|
|
non-metastatic
cells 1, protein (NM23A) expressed in|non-metastatic cells 2, protein (NM23B)
expressed in |
NME1|NME2 |
Intron |
17 |
49719385 |
0.4 |
0.17 |
0.18 |
0.2 |
hCV2646909 |
GGATTCAGATCTGTGCCCCAAATTTAATGTGGAAAATACA[C/G]TCACTACCCTATGCTAAAGGAGGAGCACCGCACTGGAACT |
C |
C |
C___2646933_10 |
|
|
mbt
domain containing 1 |
MBTD1 |
Intron |
17 |
49745980 |
0.45 |
0.16 |
0.31 |
0.4 |
hCV2646933 |
CTTTTGCGTTAGACTAAGTAGGCACACCAGTGTTTCTAGA[A/G]AGGGGAGGGAAATCTGTGTAACATGGAGGAATTATTGCAC |
T |
T |
C___2646936_10 |
|
|
mbt
domain containing 1 |
MBTD1 |
Intron |
17 |
49753322 |
0.47 |
0.45 |
0.29 |
0.4 |
hCV2646936 |
CCTAATTTAGAGGAAAAATATTTATTTAAGTTACTTCTAG[A/T]CAAGGCTAGTCCAATTCAGAATTGTAACAAGGCCAAGTTT |
A |
A |
C___2659195_1_ |
rs2286761 |
|
|
|
|
17 |
49784015 |
|
|
0.29 |
0.4 |
hCV2659195 |
ATCAACTTCTTTCTCACTCATCCTTTTAATGAAGTTGCAG[A/G]CCCTTTCAGGGGTTTTGGTCTAATGTAGGAGTTTCCAGTT |
T |
T |
C___2659210_10 |
|
|
CGI-48
protein |
CGI-48 |
|
17 |
49803343 |
0.25 |
0.16 |
0.16 |
0.22 |
hCV2659210 |
GAAACATGAAGACTTGGAGACATGTCAGTGAAGACTTGGA[G/A]ACATGGCAGTGAAGAAGAAGAAAGAAGAAAAAATTCTTCA |
T |
T |
C___2659235_10 |
rs2318789 |
|
CGI-48
protein |
CGI-48 |
Mis-sense
Mutation |
17 |
49825440 |
|
|
0.3 |
0.4 |
hCV2659235 |
GATAGGATCCCCCAACTTCACTGACTCTCACCTTCAAGAT[T/G]CCTCTTGGAAGAGAAGTTGATGTGGATATGAAATTCCCAG |
A |
A |
C___2659251_10 |
|
|
CGI-48
protein |
CGI-48 |
Intron |
17 |
49842775 |
0.44 |
0.18 |
0.3 |
0.39 |
hCV2659251 |
TCTTTCCATTAGATATTATGGTTGACTACCATTTAAAAAC[C/T]GTGATTTGGCTTTTACTAATGAATTCCTTATGTGATTTTG |
A |
A |
C___2659252_10 |
|
|
CGI-48
protein |
CGI-48 |
|
17 |
49850289 |
0.45 |
0.11 |
0.3 |
0.4 |
hCV2659252 |
TTACTATGGCTCCTCTTCAAATGACAATGACAAAGATTTG[A/C]AGTAATAAGGCCAGAAAAGCCTTTTCATTTCCAAAATCAT |
T |
T |
C___2659256_10 |
|
|
CGI-48
protein |
CGI-48 |
|
17 |
49851077 |
0.47 |
0.48 |
0.3 |
0.39 |
hCV2659256 |
CACTTCTGGGAACTGAAAACCATACGCAAAATAAGCACAT[A/G]TAAGGCTTGGTGTCCATTTCTGAAACAATTTTGCTGAAGC |
T |
T |
C___2304193_10 |
rs731591 |
|
CGI-48
protein |
CGI-48 |
|
17 |
49851637 |
0.43 |
0.19 |
0.28 |
0.38 |
hCV2304193 |
GAAACGTCTTCGTAAGACTAATCATTCTTCGGTTCACTAA[T/C]TATTAGTGAGGATGTGGGGGAGAGATGAATGGGATACATC |
G |
G |
C___2598271_1_ |
rs3744662 |
|
|
|
|
17 |
49928928 |
0.2 |
0.06 |
0.21 |
0.17 |
hCV2598271 |
GAAGAGCCTGAATTGATCATGAACATTTAGCATCCTTCAT[T/C]ACATCCTTCATTCCAGCAGGACTGAGGCTGGTTTCCTAGC |
A |
A |
C___2874067_10 |
rs3815371 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50185351 |
|
|
0.33 |
0.38 |
hCV2874067 |
ATCTTCCATTATAGGAATGATGACTGTAAATGACAATAGC[C/T]ATCACACTCCATTTGCATGGTGATGAAGGTCTAAAGTTTT |
A |
A |
C___3288263_1_ |
rs2073864 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50200847 |
|
|
0.46 |
0.48 |
hCV3288263 |
CCACCGTGTCAGCTGGTCACAGTTGGGGCTTTGCCAATTA[C/T]GGGATTGAGAAAGCCCTCATCAGGTACTATGGATCCAATC |
A |
A |
C___3288257_10 |
rs2214016 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50207446 |
0.48 |
0.21 |
0.31 |
0.45 |
hCV3288257 |
AGCATCTTTTTTGATCATCACATTTCTCAACTTCTAAAAC[T/A]TCACCTTTTTTAATGCAATTCAAGATATTGGCAATAATGA |
T |
T |
C___2536287_10 |
rs756759 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50220512 |
|
|
0.48 |
0.5 |
hCV2536287 |
ACAGATCGAAATTAGACTGTGTTTGAGAATCAGAGACCTG[G/A]ATTTAAGTCTAGATCTGTTGATAAACAACCGAGTGACTTT |
C |
C |
C___2536300_10 |
|
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50225255 |
0.27 |
0.42 |
0.46 |
0.48 |
hCV2536300 |
AGCTGAGGTATCTGCATGAATTGCCTGGGGCCATCCCTTG[G/T]CTCTACCATCTGGGACATCAAGGTTCCTGCTTACCAAATG |
A |
A |
C___7568153_10 |
|
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50227014 |
0.28 |
0.43 |
0.41 |
0.47 |
hCV7568153 |
GTTTGTTTAAGGCAACGGGGGGCAACAGGCTGTGTGCTGA[G/A]GATGAAATGGGAGCCATGTTAATTTCGTGTTAATGACAGC |
T |
T |
C___7568155_10 |
rs1271307 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50234606 |
0.34 |
0.39 |
0.41 |
0.27 |
hCV7568155 |
TGAAGCCTTTGGGTGGTGGCAGTAAATGGTCGCTTAAGAA[G/A]GAATCCGCTGGGTTTTTTGAATTCTCTTCATTTTCTGTGT |
T |
T |
C___2536324_10 |
rs1263971 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50259467 |
|
|
0.42 |
0.28 |
hCV2536324 |
AAGTGTGTTTCAGCTTCAGGGAACCGAGAGATATTTCTGG[C/T]AACCTGTGAGAGCTAATTCACCTTCAGGAGGTGAGTAGCC |
A |
A |
C___2536340_10 |
|
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50275180 |
0.27 |
0.32 |
0.2 |
0.31 |
hCV2536340 |
AGTAAGCACATGCCCAGGATTGACTCATCCCTCACATTCT[C/T]CTTTCCTTGGGCTCTTATTGGGCAACTGTCCCATTTGGTC |
A |
A |
C___7568212_10 |
rs1263981 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50297689 |
|
|
0.36 |
0.35 |
hCV7568212 |
CTAGGCTAAAATCTTTACATTGTATTATTCTTTAGTGACA[G/C]TTGTTTCTTCAGTATATGATAAGGGTGCTTTGTAACTTAT |
C |
C |
C___2536358_10 |
rs1263982 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50298061 |
0.44 |
0.13 |
0.36 |
0.33 |
hCV2536358 |
CTGTAGGGAAAAAAAATACTAGGATTGATTAGGGATGTCT[G/T]CCAAAGGCATTGTAATGCCAGGCTCCCAAGTTGCAGATTC |
A |
A |
C___2536367_10 |
rs1268418 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50307045 |
0.41 |
0.22 |
0.4 |
0.37 |
hCV2536367 |
GTGACTGACATTTGGAAAACAGTCTTTGTGTAGCTGACTT[T/C]TAAAATTATGTGATGTAGGAAATATATAGATAAAATGCAT |
G |
G |
C___2536374_10 |
rs1989800 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50313947 |
0.5 |
0.18 |
0.43 |
0.44 |
hCV2536374 |
TAGAAAATGCAGTCTCCTTGGTTGCTTGCTTCTAGAAAGG[A/T]TGCATGCAGTTTCTAGAAACTGGTGTCTTTTTCTATGGTC |
T |
A |
C___2801129_1_ |
rs1526189 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50331483 |
0.3 |
0.19 |
0.28 |
0.37 |
hCV2801129 |
TTTCAAGACCTGCTGCAGCACCTTCAGATTAGGCTCATTT[G/T]CACACCTGCATATTTTCCCCCAATTTTCCAGCGTAACCCT |
C |
C |
C___7568225_10 |
rs1526181 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50336199 |
0.24 |
0.17 |
0.12 |
0.19 |
hCV7568225 |
TCCACATACATGGGTTTGCCAGCTCCATGGGGTCCAGCCA[A/G]CTCCTCTGAGAACTCCCAGAGTTCACAATGGGCACTTGGC |
C |
C |
C___3028930_10 |
rs722489 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50347368 |
0.24 |
0.22 |
0.1 |
0.11 |
hCV3028930 |
CTTCCAAAATGTGTAACTCCATTGCTCCTCTTTGGTAATC[A/G]GAACACATTAGTGAGAACAGAATTGTGTTTAGATGGCTAC |
T |
T |
C___3028924_10 |
rs1526183 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50355580 |
|
|
0.28 |
0.36 |
hCV3028924 |
ATCAGCATTGTACACATTTCTCCTTTTCCTAAAATGTAGT[G/A]TTTCTTTGCTTATTCCTTCACACCACCCAAAAAAGGTAGA |
C |
C |
C____708836_10 |
rs759977 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50358370 |
0.03 |
0.26 |
0.19 |
0.16 |
hCV708836 |
ACGATTGCATATAATTGTTGGTTTAATGAAAGTGTAAATT[C/G]AGCTCTATGGAAGCAAAAGTAGGAACACTGAGAAAGCCTC |
G |
G |
C___7568252_1_ |
rs1263898 |
IMS-JST001245 |
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50378633 |
0.31 |
0.14 |
0.47 |
0.33 |
hCV7568252 |
AGCCACTGCTGACCCTAAAGGCCGGCCTCCCAGAGGAGAA[A/T]CAGGTGGGAAAGAGTGGAGGCAGGAGCTAGGGGTAACTCT |
A |
A |
C___2558821_10 |
|
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50380334 |
0.36 |
0.28 |
0.41 |
0.48 |
hCV2558821 |
AGTTATGTGCACAGGAGCAGGAAGAATGGGCAAGAGAATA[G/T]CCAGACTAGCTAGGACATGTGGGAGACTTCAGAGAGAAGA |
A |
A |
C___2558810_10 |
rs1263895 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50386260 |
0.33 |
0.18 |
0.47 |
0.42 |
hCV2558810 |
AAAAATCTCTAAATCATTCTCATGCATGCATCATATGTTG[T/C]TTTTCAAAGGGAAAGGATATGCATTAAAGATTTGTTCAGT |
G |
A |
C___7568287_10 |
rs1263893 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50418236 |
0.1 |
0.05 |
0.4 |
0.36 |
hCV7568287 |
AGAGTCTTCTTCCTGCTCAAGGGATGGAATATTTCCTAAC[T/C]TAGTACCTTCCTGGGGCATTGTTGGCTCAGACATGGGAGC |
A |
A |
C___2558771_10 |
rs202140 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50444513 |
|
|
0.19 |
0.25 |
hCV2558771 |
CATTGTTATTCCTCTAAGGATATTGAAAGCCAGAGAATTT[A/C]TGTGACTCATGCAAAATCACACCATTGGCAAGAGAAATGG |
G |
G |
C___2558757_10 |
rs202128 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50461006 |
0.24 |
0.28 |
0.46 |
0.46 |
hCV2558757 |
TTCCCTGAAATGTAAGCAGCTCTATCTCTGGCTTTTGCAG[A/C]AAACCAGATGACGTCAAAAAATCAGTTATGAAAGCCAAGG |
G |
T |
C___2558738_10 |
rs16650 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50468143 |
0.2 |
0.28 |
0.44 |
0.45 |
hCV2558738 |
TTCACAACCCAGGTGGCAACCAGCTTCTGGCCAATGACAC[C/T]GTGTTTCCAGCAGCGTAGCATGCAACAATGTGAATGCATG |
A |
G |
C___2656640_10 |
rs203077 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50475385 |
|
|
0.47 |
0.45 |
hCV2656640 |
ATCTTGGCATTAATGTTTTAATAGAGTGAGAAGTTGGGTT[T/G]GTCAAACAAGACTTTATGGAAGAGGTAGGATATGAGCTAG |
C |
A |
C___2656650_10 |
rs203087 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50483841 |
|
|
0.49 |
0.43 |
hCV2656650 |
TTAAATAGAGAGAAATCGAACTGGAAATTGCCACAGAAAT[T/A]CATTCTAATAGAAGTTTTCATGTGACACTGAAAATGAGTG |
A |
T |
C___2303228_10 |
rs69178 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50486935 |
0.41 |
0.36 |
0.23 |
0.3 |
hCV2303228 |
CATGCCCCAGTAGGCACAGGCACTTCATGGACGCCTGTTT[C/T]CACAGCCTTCGTCCTAAACCATTTCCCTAGAATCTAGATT |
G |
G |
C___2303229_10 |
rs123526 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50487196 |
0.24 |
0.28 |
0.49 |
0.48 |
hCV2303229 |
ATATTTCTCTTACCTTGGAAATAGAGGCAGTGCCTGCCAC[G/A]GCATTATATAACCCACTTTTGCTCCAAAAGGTGACACGGG |
C |
T |
C___2656656_10 |
rs203099 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50489170 |
|
|
0.49 |
0.45 |
hCV2656656 |
CCCAAAGTAGAGATTGCTATATTGAAGTGGAAGGCTTTAT[C/T]TGTAGGATTGAATTCACTAGAGATATGTTTTATGCCAGCG |
A |
G |
C___2303275_10 |
rs203039 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50545533 |
0.49 |
0.28 |
0.21 |
0.23 |
hCV2303275 |
GAATTTAAATAATAATGCCCTTAGAACACCTGAGGCACTG[A/G]GGAGGATTTCTGTTCATGGTTACACGGATGCTAATAAATA |
T |
T |
C___2303284_10 |
rs203049 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50553627 |
0.45 |
0.28 |
0.21 |
0.22 |
hCV2303284 |
CCACTTTCAAAAATTTATAATAATCTTTACTAGAATGTCT[C/T]CTAAAAATGGTAAGAGATTACGTGGCATGACAGGGAGCAA |
A |
A |
C____338002_10 |
|
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50584803 |
0.38 |
0.14 |
0.24 |
0.28 |
hCV338002 |
ATGCTGACCCTTATAGGCTTTATTGGAGTATATTGACATC[C/T]CATGTTGGCCCATTTTTCTCCCTGGCAAATCTGAGATCTC |
G |
G |
C___7568552_10 |
rs962035 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50612744 |
0.06 |
0.04 |
0.03 |
0.06 |
hCV7568552 |
TTGATTAACAGGTGATACTTCTTGGATAGACAATAGTACT[G/A]TTCTGCTTATCTTCTAGAAAAAAATGAACTACAGGCAAAA |
T |
T |
C___2656721_10 |
rs2970043 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50622005 |
0.46 |
0.14 |
0.24 |
0.28 |
hCV2656721 |
ACATCTGACTCCAGATGACCTACTTTATCTGAGTGGGTAC[C/T]TGTGGCAAACAATGGACCCCTTACCTCTTATTACTTGACT |
A |
A |
C____482873_10 |
|
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50636066 |
|
|
0.21 |
0.21 |
hCV482873 |
CCCCAAGTTTCTTCAGTGACTGTACTTTGACTCACAAATG[G/T]CACGAATGTCCTCAGAGGCTCTTTAAGTCTTTTTTCAGTC |
A |
A |
C____196277_10 |
rs1503055 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50648714 |
0.39 |
0.17 |
0.31 |
0.29 |
hCV196277 |
GAGATGCCTCAAGGGAGGGGAGAGAAAGAGAAAGCATACA[T/G]AGTAGAACTTCAACCCTATCTGTAATTATTTTTTTCAAGA |
C |
C |
C_____79437_10 |
rs965508 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50659117 |
0.43 |
0.11 |
0.2 |
0.21 |
hCV79437 |
AGGGGCCTTGTGCCTGTCCTACCTCAACCTTCTCCTTTCA[C/T]AGATGAGAGGGTAGGCCCATGTGAACTCAGATCTTCTGGC |
A |
A |
C____231102_10 |
|
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50666178 |
|
|
0.08 |
0.01 |
hCV231102 |
CTGGATATAAGCCTCTTCCCCAAACATCTAGGAAATAAGG[A/G]TGGATGCAGTGAATTGGTGAATATGATAAAGAAGCTTCAT |
T |
T |
C_____42198_10 |
rs1503045 |
|
carbonic
anhydrase X |
CA10 |
Intron |
17 |
50703423 |
|
|
0.29 |
0.28 |
hCV42198 |
TTAACTCTGTCGTTTGTAGATACAAGTGGAGAAGGGAAAA[G/T]GTTTATAGAAAACATTTGACCTAGACCTAGAAGAACACAT |
A |
A |
C___7478613_10 |
rs1503049 |
|
carbonic
anhydrase X |
CA10 |
|
17 |
50717479 |
|
|
0.28 |
0.27 |
hCV7478613 |
TTTCCGCTTCTCCTACCATCTCCACATTGGTTTCAGAACT[C/G]TGGCAATTCCCCTCATCATTTTAGTCCATGCGTTTGCAGG |
G |
G |
C___2027071_10 |
rs913439 |
|
|
|
|
17 |
50851399 |
0.27 |
0.11 |
0.1 |
0.09 |
hCV2027071 |
TTGCCCAGGCAGATTCTCCAAATTTCTGATAATTGGGACT[T/G]ACTGTGGCTAAAATTGAGTCTATGGCTGAGAAAGTCTTTC |
A |
A |
C___1596968_1_ |
rs2271474 |
IMS-JST066370 |
|
|
|
17 |
51538579 |
0.17 |
0.11 |
0.12 |
0.25 |
hCV1596968 |
GAGGAAAGGAAAGAATGGAGAGGTCAGAAAACAGTGGTGT[G/C]GAAATTAAAATCCTCATTTAAAAAATCTAAGAAGAACATG |
G |
G |
C____464763_10 |
|
|
|
|
|
17 |
51561373 |
0.19 |
0.16 |
0.11 |
0.25 |
hCV464763 |
TGAGTTTGGTAGATTGCTCACAACTGTAGGACCAAATATA[C/T]TGGTTCCATGGACAAGTATCTTCCCTCCTCATCAGTCAAA |
G |
G |
C___7571323_10 |
rs807131 |
|
|
|
|
17 |
51704570 |
|
|
0.26 |
0.24 |
hCV7571323 |
ATACTAAAGAGAAGGCCTCTGGAAGTGTTGGCAATGTTCT[C/A]TTTCTCCTTCTGGGTGATAGTGACAAAGTAGATCATGATT |
G |
G |
C___2635702_10 |
|
|
|
|
|
17 |
51977728 |
0.38 |
0.24 |
0.25 |
0.33 |
hCV2635702 |
TAAAAAGGAAACAGTATAGGCATACAGGCAACTTCATGAA[T/C]TGCTTTTTGTTTGTGGGATCTGAAACTGGCTAATAACATG |
G |
G |
C___8732620_10 |
rs1502501 |
|
|
|
|
17 |
51989413 |
0.45 |
0.15 |
0.26 |
0.36 |
hCV8732620 |
CCTTTGTCCATAGGGCATGCACAGAAACTCTTCTTGTCAG[A/C]TGGGTGGCACTCATGGAATGGCCTTCTCTCTGCCAGGCAC |
T |
T |
C___1492391_10 |
|
|
|
|
|
17 |
51997902 |
0.41 |
0.2 |
0.32 |
0.36 |
hCV1492391 |
TTTGCTCTTTTGTAGACTAGAAATTATCGCATAGAAATAT[G/A]GCAGAATTTCTCTGAATCCCTGAACTAATCAATGCAAATA |
C |
C |
C___7957793_10 |
|
|
kinesin
protein |
LOC84643 |
|
17 |
52374287 |
0.22 |
0.23 |
0.2 |
0.1 |
hCV7957793 |
TACCTTTCGTACAGCACCTGGGTTTGCAAACACAACATGT[G/A]TATCACATTCCAAGTGGCTCTGACAGCTATAAAGTGAGTT |
C |
C |
C___7957804_10 |
rs3803824 |
|
kinesin
protein |
LOC84643 |
Mis-sense
Mutation |
17 |
52375367 |
0.37 |
0.09 |
0.3 |
0.13 |
hCV7957804 |
|
#N/A |
#N/A |
C___7957808_10 |
rs3803825 |
|
kinesin
protein |
LOC84643 |
Silent
Mutation |
17 |
52375722 |
0.23 |
0.23 |
0.2 |
0.1 |
hCV7957808 |
|
#N/A |
#N/A |
C___2600655_10 |
rs2332264 |
|
|
|
|
17 |
53305215 |
0.44 |
0.37 |
0.23 |
0.15 |
hCV2600655 |
ACCTATGAATGTATGCTGTTTGCTAGAAATAGACTAAAAG[A/G]TATCTTGCTCTTATAACATGTTGGTGTATTTGCATGTTTG |
T |
T |
C___1239094_10 |
|
|
target
of myb1-like 1 (chicken) |
TOM1L1 |
|
17 |
53448724 |
0.06 |
0.05 |
0.18 |
0.17 |
hCV1239094 |
CTTATAGTCCACAACATATTATATCACTGATTTGTTTAGA[A/G]ATCTGTTCCCTGCCTCCTAGATATAGGCCCCACAAAGAAA |
C |
C |
C____260823_10 |
|
|
target
of myb1-like 1 (chicken) |
TOM1L1 |
Intron |
17 |
53456491 |
0.33 |
0.3 |
0.34 |
0.26 |
hCV260823 |
CTGGTTACTAGAAATAATTGCTCAGAAATAGGTCACCACC[A/G]GGAGTCAACCAGCTTCTTGATAATATTTGATGGTTTCATC |
T |
T |
C____443197_10 |
|
|
target
of myb1-like 1 (chicken) |
TOM1L1 |
Intron |
17 |
53459523 |
0.27 |
0.3 |
0.34 |
0.23 |
hCV443197 |
TATACCTGGCCCTGTACTACACAGGAAGAAACTAAAGACA[T/C]AAAGGAAACACAGTAGCCTACTCTTTTAAGAGGCTTGATT |
G |
G |
C____443195_10 |
|
|
target
of myb1-like 1 (chicken) |
TOM1L1 |
Intron |
17 |
53460620 |
|
|
0.34 |
0.23 |
hCV443195 |
ATGGTAGGAAATCATAGTACAGTCAGGTTCCGTCAAAGCC[C/T]AATCAAGGCTAACACGTCCACGGAGAACTCAACATGACAG |
A |
A |
C____281875_10 |
|
|
target
of myb1-like 1 (chicken) |
TOM1L1 |
Intron |
17 |
53463709 |
|
|
0.34 |
0.23 |
hCV281875 |
GAAACCTGGAATGATAGAAAGATCCAGTAGCAATGCACTA[T/A]TTCAGGCATGATATAGAAAAGGCCTAAACTAAGATGATGT |
T |
T |
C__11616203_10 |
|
|
target
of myb1-like 1 (chicken) |
TOM1L1 |
Intron |
17 |
53480224 |
|
|
0.47 |
0.34 |
hCV11616203 |
GGTAGTCGGTAGTAAATAAACGAATTATGGGTGCTTGACA[G/A]GGTGTCACTAGAAGCTCAACTAGATAACGAATACAATCCT |
C |
T |
C__11888719_10 |
|
|
target
of myb1-like 1 (chicken) |
TOM1L1 |
Intron |
17 |
53490691 |
0.19 |
0.48 |
0.06 |
0.13 |
hCV11888719 |
TAAAAAGCATCATTTATGGTAGGTAGAGAGAGAAAGAATT[A/T]CCCTGCCATGAGAAGAAGTTGTTGTAAGGGTAACAAATAT |
T |
T |
C___1229945_10 |
|
|
COX11
homolog, cytochrome c oxidase assembly protein (yeast)|target of myb1-like 1
(chicken) |
COX11|TOM1L1 |
IntronIntron |
17 |
53504864 |
0.26 |
0.1 |
0.22 |
0.09 |
hCV1229945 |
TTCTCCTTTTGGGAAGGGACCTTCTGACTAAGTTTGGAGC[T/C]ACAATTTCTCTAAATCAGGACAGAATAGAGGTGTTCTGAG |
A |
A |
C___1229939_10 |
rs2332314 |
|
COX11
homolog, cytochrome c oxidase assembly protein (yeast)|target of myb1-like 1
(chicken) |
COX11|TOM1L1 |
IntronIntron |
17 |
53507645 |
|
|
0.28 |
0.22 |
hCV1229939 |
AGAGACATCGCCATCGTTTTAACAAGGGGAATCCCCAACA[C/A]AAAGACAAGGATGCTTGTCTTCAGGCTTTGTTCCCTACGT |
G |
G |
C___1229917_10 |
rs2541240 |
|
COX11
homolog, cytochrome c oxidase assembly protein (yeast)|target of myb1-like 1
(chicken) |
COX11|TOM1L1 |
Intron |
17 |
53517510 |
0.45 |
0.08 |
0.22 |
0.28 |
hCV1229917 |
TCAAGGAAATAACTGTCATGAATAAAAGAAATGTCAGACA[T/C]AAATACTCTTGATGCCCTATGATTATTTCTGTGGCCATAG |
A |
A |
C___1229885_10 |
|
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
Intron |
17 |
53531109 |
0.25 |
0.42 |
0.19 |
0.06 |
hCV1229885 |
AAAATCCAAATCCAGGGTTTGTCTACCAAAGGCAGGATAC[T/C]AGTTCATTTTAATACTTTGTGGTTGGCAAGGAGTGATTCA |
A |
A |
C___1229873_10 |
|
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
Intron |
17 |
53536260 |
0.24 |
0.42 |
0.19 |
0.06 |
hCV1229873 |
CAGAAACAAAAAGTTCTAGGGAGAACAAAACTGAGAGATT[G/A]AAGACTAAAATCAAGAGGATCATCCTATCTTTTCTTCAAC |
C |
C |
C___1229857_10 |
rs1156287 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
Nonsense
Mutation |
17 |
53551437 |
|
|
0.19 |
0.04 |
hCV1229857 |
ATTCTATCTCATGGATAGTATAGTTACCTCAACTTGGCTC[T/C]GGTAATTATGCTTTTTGCTTCTTCAAATGATACACCAATC |
G |
G |
C___1229855_10 |
|
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
Intron |
17 |
53557760 |
0.24 |
0.43 |
0.19 |
0.06 |
hCV1229855 |
ATATGTGAAGCTTGTCAATGACTTCCAGCTTGGTGTTTGG[C/T]CTGCAATTAAGGCACATTAACACTAGGTGGACCCAAGTGA |
A |
A |
C__16034785_10 |
rs2541245 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
Intron |
17 |
53575838 |
0.22 |
0.11 |
0.19 |
0.06 |
hCV16034785 |
CTCTAAGTAAAGATACCAGTTCTAGAATTCCAACTGAAAA[C/T]GGCTTGAGGCCATGTTAAAACTGAGCCCCAATATCTAAGT |
G |
G |
C__11941747_10 |
rs1894936 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
Intron |
17 |
53595493 |
0.21 |
0.15 |
0.12 |
0.17 |
hCV11941747 |
TTGCACAGATATTGTGAAATATAAATATGTAGACCAAAAA[C/T]TAATTCTCTAAAGGCCAACTGAATAAAGAATCTGATTTTT |
G |
G |
C___3148395_10 |
rs2787507 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
|
17 |
53602562 |
0.23 |
0.08 |
0.19 |
0.06 |
hCV3148395 |
TTCCAGGAGGAGCAATTTGTCTGATGATGTTCATTCTCCA[G/A]TTCCTTTGGTAGTTGCTTATTATTAAATGTTTAGGTTCTG |
C |
C |
C___3148400_10 |
|
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
|
17 |
53612612 |
0.24 |
0.1 |
0.18 |
0.06 |
hCV3148400 |
TTCTTTTCAAAACAGTGAGTAGGTATTCTGGTAGCTATCC[C/T]TGATTGAATAAAACAATGAAGGTGATCCTTCCAGTGAAAA |
A |
A |
C___7595690_10 |
rs1484770 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
|
17 |
53642978 |
0.19 |
0.31 |
0.13 |
0.13 |
hCV7595690 |
GAAACCTTAGCTCCAATTGCTGATCTCAATTCTGTGAAAT[T/C]TCTGAAGCTTAAAATCCTACTTATCATGATAGTTTCATAT |
A |
A |
C___2576424_10 |
rs244356 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
|
17 |
53668447 |
0.46 |
0.21 |
0.42 |
0.4 |
hCV2576424 |
AATTAAGTGTCTGTAGCATCATTGGGCAGTAGTAGAGTTA[A/C]AATGGGGAAATTTGGCATGTCACATGGCAAGTCAGCAACT |
G |
T |
C___3148454_10 |
rs244336 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
|
17 |
53676140 |
|
|
0.19 |
0.06 |
hCV3148454 |
TCCCCATATAATGCTGTTTTCCTATTTCTTCTCATGGTGT[C/T]ATGGGGCCTCACTGTCCCTTTTACCTAAACACCCTTGATA |
A |
A |
C___3148460_10 |
rs2214980 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
|
17 |
53681699 |
|
|
0.43 |
0.42 |
hCV3148460 |
TACAATGTCTAAATTAGAGATGGGACACTTTTTTGTTGTT[C/T]CTAGGAAGGAAAATGTAACTAAGAAAAATATTTCAAAGGT |
A |
G |
C___3148484_10 |
rs244317 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
|
17 |
53691623 |
|
|
0.19 |
0.1 |
hCV3148484 |
CACTGCAAGCACATGCTCAGCCAGATGCGCCATGATAAAC[A/T]GCTCTGCTGCACCAGTTCAAGTAGATTTATTTTCTGTCTT |
T |
T |
C___3148494_10 |
|
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
|
17 |
53702082 |
|
|
0.14 |
0.18 |
hCV3148494 |
AGTAAATCTAAATAAAGGGTCCTGGCAGCAAAGACAATTA[C/T]ACACCTTTCAAATAGAAGTATTAACCCTCAGAAAGGTTAC |
G |
G |
C___3148507_10 |
rs2628314 |
|
syntaxin
binding protein 4|hypothetical protein MGC50337 |
STXBP4|MGC50337 |
|
17 |
53709820 |
0.44 |
0.24 |
0.46 |
0.37 |
hCV3148507 |
TCACAAAAATGCATTCACTTTATTGGCTACTGATTACAAT[G/A]CTGAAAATGTTAGGTAGTACAAATGGTAAGTTCCACTGTT |
T |
C |
C___1388761_10 |
rs1477143 |
|
hepatic
leukemia factor |
HLF |
|
17 |
53810466 |
0.19 |
0.27 |
0.32 |
0.21 |
hCV1388761 |
CTACTTTTCATCCAAACACACATCCTTTTTTCTTCTCACC[C/A]TTTTCTCTCACCAGGGGCAGCTACATTCTATTGCTCCCAG |
T |
T |
C___1388769_1_ |
rs2270378 |
|
hepatic
leukemia factor |
HLF |
Intron |
17 |
53821889 |
0.07 |
0.13 |
0.18 |
0.24 |
hCV1388769 |
CACATCCTAAATTTGGTAGGGGACTAAGAAATACTTGTCA[C/G]TTGATTACAAGTGTTGGTCAAAATACCCCAATCCAGTAAC |
G |
G |
C___1388790_10 |
rs955734 |
|
hepatic
leukemia factor |
HLF |
Intron |
17 |
53841861 |
|
|
0.07 |
0.06 |
hCV1388790 |
TGAAAACAGGCTTATTTATTAATACAATGAATGCAAAGTG[C/T]TAGGAAGGATTAAGAGCTGAGAAAACAGACTTGGAATTAT |
A |
A |
C___1388794_10 |
|
|
hepatic
leukemia factor |
HLF |
Intron |
17 |
53848188 |
0.28 |
0.24 |
0.34 |
0.48 |
hCV1388794 |
AACAGCCCCTGTGGATGTAAGGAGCTTGCAAACCCTACCT[T/A]GTAAGGAAACCAACCACCCACACCTCAGGAATATTCACAC |
T |
A |
C___1388801_10 |
rs3794752 |
|
hepatic
leukemia factor |
HLF |
Intron |
17 |
53857467 |
0.3 |
0.19 |
0.29 |
0.45 |
hCV1388801 |
|
#N/A |
#N/A |
C__16181698_10 |
rs2287223 |
|
hepatic
leukemia factor |
HLF |
Intron |
17 |
53867490 |
|
|
0.19 |
0.09 |
hCV16181698 |
GGATCATCCTGGGGTCACCCTTTTAATCTGTCTGTGGATC[C/T]CACTCTCCATTTGCCCAAAGACTGATTACCAGTTCCAATT |
G |
G |
C__11612645_10 |
|
|
hepatic
leukemia factor |
HLF |
UTR
3 |
17 |
53874748 |
0.37 |
0.23 |
0.27 |
0.43 |
hCV11612645 |
CTGGGGCACTGGCAGCAACGTGCCATTCCAGGAACTCAGA[G/A]TTTCGAAGTGAACATTTTTGTGGCAGATGCTTTTCCTAAA |
C |
C |
C___1388826_10 |
rs1477142 |
|
hepatic
leukemia factor |
HLF |
|
17 |
53878393 |
|
|
0.15 |
0.07 |
hCV1388826 |
TGATGGATGAAAATAGAGCTGAACCCTAACTTGTAACCAC[T/C]CAATTTTAACTAGAGGTTGTCACCAAGTAAGAGATGCCCA |
A |
A |
C___1218081_10 |
|
|
monocyte
to macrophage differentiation-associated |
MMD |
Intron |
17 |
53957750 |
0.11 |
0.06 |
0.38 |
0.48 |
hCV1218081 |
CAATGATTCAAAAGAAACCTGATTATCTGAAGGAGTAAAA[A/T]GTAAGTGCTATCTTTGCCCAGCATCTGACTAAATTATAGG |
A |
T |
C___1218079_10 |
|
|
monocyte
to macrophage differentiation-associated |
MMD |
Intron |
17 |
53964237 |
0.43 |
0.21 |
0.42 |
0.37 |
hCV1218079 |
ACAGATCCAAACTGAAAATCAGGGTATATAACTTCAACAA[T/C]TGACTTTTTGTATGTGTGTGTTGCTATGTACATTATAATA |
A |
A |
C__25611241_10 |
|
|
monocyte
to macrophage differentiation-associated |
MMD |
Intron |
17 |
53973628 |
|
|
0.14 |
0.18 |
hCV25611241 |
GTGAGAGGGATGGCGTCCCGGTCCCGCTGCCCGTGTCAGA[A/G]GCGGGTTCCCAAATCCCGCCGTTAAGCGCACGGCTCCCGG |
C |
C |
C___1217976_10 |
rs998107 |
|
|
|
|
17 |
54061831 |
0.49 |
0.37 |
0.4 |
0.42 |
hCV1217976 |
ACTGCCTGCTCTCCCTTCACTCTCTTTGTTGATGTTGAAT[G/T]GTATGTTTTTTCCCCTGTTCATTAGTCTATTTCCAAAATT |
C |
C |
C___1217936_10 |
|
|
|
|
|
17 |
54082387 |
0.3 |
0.44 |
0.38 |
0.47 |
hCV1217936 |
TTGCTAAAAGGGAAACCTTCTGCCTCCACCAATATTTCAA[C/T]TGCCAAAGGAGGACCATAGGGCGTAGTGTGTAAATGGCAG |
A |
A |
C___1560488_10 |
|
|
|
|
|
17 |
54117186 |
0.27 |
0.44 |
0.46 |
0.33 |
hCV1560488 |
TAGAAAAGTGCACTGGTATATTTTAAGATTTGACACATTT[A/T]AATAAGATATAATGGATGATAAAATGTTGCTATTTTTATT |
A |
T |
C___1527190_20 |
|
|
|
|
|
17 |
54118149 |
|
|
0.46 |
0.33 |
hCV1527190 |
AAGATGGCCTCAATTCCACTCACGCTTAAGCCCTGCCCTG[T/A]GAAAATCCAAAGTCTTCCTCAAGTTGTCTGTGAATTCCTC |
T |
A |
C___7596007_10 |
rs906580 |
|
|
|
|
17 |
54120258 |
0.29 |
0.2 |
0.34 |
0.43 |
hCV7596007 |
TCCTCAGCAGGGCTCTCGTTGAAGTGACAGATGTCCATCT[A/T]TGCCTTTGCATAGCTGTCTCTGCTTTGGAATTGCCCCTAG |
T |
A |
C__11411857_10 |
rs1827929 |
|
|
|
|
17 |
54232025 |
0.14 |
0.45 |
0.34 |
0.33 |
hCV11411857 |
GAGGGAAGGGGGCAATATGAGGCTAAGAGTAAATGAGGAA[G/C]AGCTTCCTTCCTGGGTTCTTTCTTACTTGTGATACAAAGT |
C |
C |
C___2908974_10 |
rs2033111 |
|
hypothetical
protein FLJ10970 |
FLJ10970 |
|
17 |
54262918 |
0.17 |
0.47 |
0.48 |
0.38 |
hCV2908974 |
GGGTTCAGAGACTGGCAGCCTGCCAGTCATAAATCAGTTG[C/T]GATCACATTGTGGTATGAACTCAGAAAAACAAGTAGACAA |
A |
G |
C___7955182_10 |
rs3760281 |
|
hypothetical
protein FLJ10970 |
FLJ10970 |
|
17 |
54276849 |
0.15 |
0.23 |
0.49 |
0.41 |
hCV7955182 |
GAAAGCTTTGGTATTGGAAGTGATGACAGATTTGTGCTCC[C/T]AGGACACAGACACACTCACTGCGCCTCATTATAGACTCAG |
G |
G |
C___2908964_10 |
rs2960086 |
|
phosphatidylcholine
transfer protein |
PCTP |
|
17 |
54294712 |
0.15 |
0.45 |
0.14 |
0.16 |
hCV2908964 |
TGCTGACATGATTAAACAGATAATATGAGCAAAAGCACTC[T/C]GAAAAGTGAAAGTGAACACTTGATAGGCATTTCTAAATTC |
G |
G |
C___2908953_1_ |
rs890487 |
|
phosphatidylcholine
transfer protein |
PCTP |
|
17 |
54302201 |
|
|
0.15 |
0.17 |
hCV2908953 |
ACATCAAAACGATGTAACAGCCACGTGAGTGCCAATAAAC[G/T]CTGGAAACTCATGTTTCCTAATCTGTAAAATGGGTCAAGA |
A |
A |
C___2908950_10 |
rs2960074 |
|
phosphatidylcholine
transfer protein |
PCTP |
Intron |
17 |
54310015 |
0 |
0.44 |
0.04 |
0.1 |
hCV2908950 |
TGCAAGGGCCTGACTTGCAGATCACTGGAAGAGCTTTTCT[A/C]AGTGACCCATGGCCCTTCTCTCAGGGAAACTTCTCAGCAC |
T |
T |
C___2908922_1_ |
rs2303506 |
|
phosphatidylcholine
transfer protein |
PCTP |
UTR
3 |
17 |
54328779 |
|
|
0.14 |
0.17 |
hCV2908922 |
ATCCATTTCCTCATGGATGATGAGGAAAAATGTGGTTGTC[G/A]TATTATGTGTCCGGTCAGGCCTCTGATACTTCTCCAAATG |
T |
T |
C____507935_10 |
|
|
phosphatidylcholine
transfer protein |
PCTP |
|
17 |
54341213 |
0.16 |
0.2 |
0.14 |
0.17 |
hCV507935 |
GAGAAAAGCATAAATGGGTACTCACCACTTAATTCTGATT[C/T]GTAAGAAAGGAAATAATGGTGATGTGTGAGGTAGATAGAT |
G |
G |
C____282195_10 |
rs4531798 |
|
phosphatidylcholine
transfer protein |
PCTP |
|
17 |
54349686 |
|
|
0.14 |
0.17 |
hCV282195 |
GAGGCAGGTCTCAATACAATTCTGACTCCATCTCTTTTAG[C/A]GCTAGTCTTTATAAAGAGTGATCTATTTCCAGTTTTTCTG |
T |
T |
C__11616136_10 |
|
|
phosphatidylcholine
transfer protein |
PCTP |
|
17 |
54360933 |
0.14 |
0.32 |
0.1 |
0.07 |
hCV11616136 |
ATTGCCTCACCAGATATTGAGGAGAAATACTTTAGAGTAG[C/T]TGGCCAATACGGGATTGGCTCAAGCCCATTATTCTTAGCT |
A |
A |
C___7955042_1_ |
rs1454114 |
IMS-JST042390 |
phosphatidylcholine
transfer protein |
PCTP |
|
17 |
54374815 |
0.15 |
0.3 |
0.1 |
0.07 |
hCV7955042 |
TTCCTTCCACTCAATCTATTGCAGAATGTTTGGGTTTGCC[G/A]AAAACTTGATGAGGTCTCTCTGATTCTGAGCTTCCCGCTT |
C |
C |
C___2665614_10 |
rs966793 |
|
hypothetical
protein FLJ38335 |
FLJ38335 |
|
17 |
54872678 |
0.49 |
0.13 |
0.03 |
0.06 |
hCV2665614 |
CAGCAGCCTCTCACCGGGCTGTAGCACCGACGTGATAATC[A/G]GAGTCCATGCTTCTGAAAAGCCTTCTTGTCCTGGCTGCCA |
C |
C |
C___2665594_10 |
|
|
hypothetical
protein FLJ38335 |
FLJ38335 |
Intron |
17 |
54903895 |
0.48 |
0.37 |
0.5 |
0.47 |
hCV2665594 |
TCCAAGCTTTTGTTGGCAAACTTTGGCATGCTTCTATCTG[G/A]AAAGGCTAGGACTCATTTCTGTTTTAAGAGCAAACAAATG |
C |
C |
C___2665590_10 |
|
|
hypothetical
protein FLJ38335|hypothetical protein FLJ38335 |
FLJ38335|FLJ38335 |
Intron |
17 |
54925676 |
|
|
0.01 |
0.1 |
hCV2665590 |
TAATGTTGCTAAGTTATTTGCTCCAAGAGAAAGGATTAGG[C/G]CTAGATTTGGTATTTAGTGTACTTAAGAAAACATCATCAC |
G |
G |
C__16155306_10 |
rs2192216 |
|
hypothetical
protein FLJ38335 |
FLJ38335 |
|
17 |
54976173 |
0.37 |
0.2 |
0.02 |
0.08 |
hCV16155306 |
TACAGTTCTATAGATCAGTGCAGGTCCATGATGAAGGGTA[G/A]AGCTTTATGTCTTTAAGGGTGTCACCCCTTAGTGCACCCA |
T |
T |
C___2665575_10 |
|
|
hypothetical
protein FLJ38335|hypothetical protein FLJ38335 |
FLJ38335|FLJ38335 |
|
17 |
55007422 |
|
|
0.09 |
0.23 |
hCV2665575 |
AGCTGACTGACACAAGCATTCATGCCAGTTTCAAGCTTAC[G/T]TTGGTAATGGTTATTCCTTGCAGAACAAAGCAAAATCATT |
C |
C |
C___8733076_10 |
rs1442830 |
|
hypothetical
protein FLJ38335 |
FLJ38335 |
|
17 |
55027080 |
0.47 |
0.14 |
0.13 |
0.02 |
hCV8733076 |
TTAGTACCCAGTACTTTTCTGTATAAAATAGGTACACAAC[G/A]TGTGGAAAATTAGGACAGATGCCTTAAACAGAACATAAGG |
C |
C |
C___8733077_10 |
rs1442831 |
|
hypothetical
protein FLJ38335 |
FLJ38335 |
|
17 |
55027219 |
|
|
0.35 |
0.45 |
hCV8733077 |
AATATATTGAAATCAGTTTTATAATAGAGGCAGTGTAGGC[A/T]TACAGCAGAAGGAGTACTTATATTTTTCTTTCGTGTTATT |
A |
A |
C__11875670_10 |
|
|
hypothetical
protein FLJ38335 |
FLJ38335 |
|
17 |
55040341 |
0.08 |
0.4 |
0.07 |
0.14 |
hCV11875670 |
CTCTCTGGCTCCTTCATCTTGCTCTTCAACCACATCCAAT[C/T]AATCACAAAGTTCCATCATTTTAACTCCTAAATTCCTCAT |
A |
A |
C___7958201_10 |
rs764583 |
|
hypothetical
protein FLJ38335 |
FLJ38335 |
|
17 |
55042801 |
0.47 |
0.47 |
0.08 |
0.19 |
hCV7958201 |
GATCCATCCTTACTCCAGCTATGCCTCATTTCAAGGAGGT[T/G]TTTCTCAACTCAGGAGGCCTCTGTCCTGGTTTGATTTTTC |
A |
A |
C__16173194_10 |
rs2241935 |
IMS-JST013960 |
hypothetical
protein FLJ38335 |
FLJ38335 |
|
17 |
55062849 |
0.09 |
0.18 |
0.09 |
0.06 |
hCV16173194 |
TGGATGCGCAACCAGCGATGATGGCGGCTGAAGCCGCCAT[G/A]GTGGGGGTGCTTGCCTGGCTTCCGCTTTCCCAGGAAGCCT |
C |
C |
C___7958240_10 |
|
|
hypothetical
protein FLJ38335 |
FLJ38335 |
|
17 |
55070864 |
0.32 |
0.11 |
0.37 |
0.36 |
hCV7958240 |
TGGGCACGAGGACGAGACTTTTGCAGGTTTTCTGGGTATT[C/T]AGTGGGTGTGGCTGAGCTGAGTGATCTGCATGTCAATTCA |
G |
G |
C___2641954_10 |
|
|
noggin |
NOG |
|
17 |
55141373 |
0.46 |
0.3 |
0.33 |
0.24 |
hCV2641954 |
TCTATCATGATTCGAAGAACAACTTGACAATCTTCTTGCT[T/G]CTTTGGCCCTGGAAACATAGACCTAAGGCAACTGTGGGTG |
A |
A |
C___2641946_10 |
rs887085 |
|
noggin |
NOG |
|
17 |
55153295 |
|
|
0.07 |
0.03 |
hCV2641946 |
GAGGGACAGAACTCCTACATCTGAAATTCCTCTTCTGTGC[A/G]TGGTCCATTGCAGGCCTGAAGCATCAGGGGTCCTTTAAAA |
C |
C |
C___2641945_10 |
rs1372857 |
|
noggin |
NOG |
|
17 |
55155680 |
|
|
0.32 |
0.18 |
hCV2641945 |
AGCTCTCCCTCTCCGCCTATTGAAGGAGACGGGGGGTTTC[A/G]GGTTCAGTAACCTGGGAGTTCCTGTAATCCCCAGAACTGA |
C |
C |
C__16145536_10 |
rs2176745 |
|
|
|
|
17 |
55349864 |
|
|
0.4 |
0.06 |
hCV16145536 |
CTGTTTTATGCATCACTTATAGGACATAATGCCATGAGTA[A/G]CCCATATACAGAAAATTCACAGCCTGAACTGGCTTCGGGG |
T |
T |
C__11935069_1_ |
rs1992553 |
IMS-JST041296 |
diacylglycerol
kinase, epsilon 64kDa |
DGKE |
|
17 |
55420308 |
0.08 |
0.01 |
0.09 |
0.08 |
hCV11935069 |
AGAGTGCCAATTTATCTGTAGGGTTTGTTTAAGCAGTTCA[G/A]ATCTGAAAGACTGCTGGCAGAGCCCTGAACTGGACTGAGA |
C |
C |
C___2031631_10 |
|
|
diacylglycerol
kinase, epsilon 64kDa |
DGKE |
|
17 |
55422626 |
0.21 |
0.39 |
0.11 |
0.1 |
hCV2031631 |
AAAAGATTGCCGTAAGGATCAGACAACTGGAGGAAACCAG[C/G]ATGGACTATGTCATTCCCGAGGGTGACTCTGAGCCCTAGG |
G |
G |
C___3195587_10 |
|
|
zinc
finger protein 147 (estrogen-responsive finger protein) |
ZNF147 |
|
17 |
55439587 |
0.34 |
0.3 |
0.16 |
0.13 |
hCV3195587 |
CCTGTTGGAACAAAACACACTACTCTTCATGGGAGCCTCC[C/T]GAGTTTCTTCTCACCTGTGTGAAGTCCCCTTTGTTTACTG |
G |
G |
C___3195585_1_ |
|
|
zinc
finger protein 147 (estrogen-responsive finger protein) |
ZNF147 |
|
17 |
55442166 |
0.32 |
0.29 |
0.14 |
0.13 |
hCV3195585 |
AAATGAGTCCAACTCTGGGCTTTGCTTAGAGGAGAGCTCC[C/T]GTCAGGCTTCCTATAATATGAAAAGAAGTCACCATTGGGG |
G |
G |
C___1009055_10 |
rs205498 |
|
zinc
finger protein 147 (estrogen-responsive finger protein) |
ZNF147 |
Mis-sense
Mutation |
17 |
55453432 |
0.19 |
0.17 |
0.18 |
0.13 |
hCV1009055 |
|
#N/A |
#N/A |
C___2567890_10 |
|
|
coilin |
COIL |
Intron |
17 |
55500757 |
|
|
0.43 |
0.34 |
hCV2567890 |
TTCTGCATTATCAGGTAACCACAGGTAATTCATAAATATT[A/G]TCCGTGGAATTTACTTACTTAATATCTGTATGAGTCTTTA |
T |
T |
C___2567877_1_ |
rs2301823 |
IMS-JST058012 |
coilin |
COIL |
|
17 |
55513128 |
0.47 |
0.38 |
0.22 |
0.21 |
hCV2567877 |
CGCTCCGAGTTCTCGCCTAGACGCAGCCTGTAGTAGCCAG[T/G]TTTCACCACTAGGTGGCACACGCCAAAGGCTCCGGCGGGG |
C |
C |
C__16181217_10 |
rs2287000 |
IMS-JST037724 |
likely
homolog of rat and mouse retinoid-inducible serine carboxypeptidase |
RISC |
Intron |
17 |
55539437 |
0.09 |
0.44 |
0.21 |
0.14 |
hCV16181217 |
AAAAAAAAAAAGGGAGAGGCAGGAAGGAAAGATTAACACA[C/G]ACGGGGATCAAATAATCTGGGCTGTTGCTTTTCATACAAT |
G |
G |
C___2309568_10 |
rs759258 |
|
|
|
|
17 |
55603186 |
0.17 |
0.41 |
0.17 |
0.1 |
hCV2309568 |
CTTTGTGACTTGTTTCTTCCTCACAATTGTTCTTAGACAA[G/T]GTGTGAAGAGGCCTTTTTGGTGCCTGCTGATGTTTTCCGG |
A |
A |
C____347248_10 |
|
|
|
|
|
17 |
55609620 |
0.18 |
0.41 |
0.17 |
0.1 |
hCV347248 |
AGACCTGTCTATACTTCTCATTAAGCAGTAATGGCTAAAA[A/G]CCATTATAGCCATTTGAGAAGCACTTTCTTTTTATAATCT |
T |
T |
C___2675698_10 |
rs917927 |
|
|
|
|
17 |
55624843 |
0.45 |
0.37 |
0.23 |
0.35 |
hCV2675698 |
TCCAAGGAAAACTTACATAATCACAGCTTTTTTCTCCCAA[T/C]AAAATATGTTCCTATTTGTGGAGCTTTTATATTTCCATTT |
G |
G |
C__11877958_10 |
|
|
A
kinase (PRKA) anchor protein 1 |
AKAP1 |
|
17 |
55629762 |
|
|
0.49 |
0.34 |
hCV11877958 |
AATTAAATCATCAAACACTGTTACTTACCTCATTTGATTC[A/C]ATGGGAGATACCTTCTGGTCCAACTATTGAGATCCTCCTG |
G |
G |
C___2309564_10 |
rs721426 |
|
A
kinase (PRKA) anchor protein 1 |
AKAP1 |
Intron |
17 |
55639519 |
0.41 |
0.12 |
0.44 |
0.35 |
hCV2309564 |
AGGAAAAGGGAATACTGTAGAGGCTAACACCAGCCTTCCC[G/C]TAAAATATGGCTGCAACCCAGCCTATGTCCAAAGCTCAAG |
C |
C |
C___2675673_1_ |
rs2270277 |
IMS-JST024732 |
A
kinase (PRKA) anchor protein 1 |
AKAP1 |
Intron |
17 |
55647800 |
0.16 |
0.22 |
0.11 |
0.23 |
hCV2675673 |
GCCCACGACCACAGAAGACATTACACAAAACTGCCCAAAA[A/G]GTATGAAATGGCAATCTGACAACAACCTGACTTAAAAGCC |
T |
T |
C___2675671_10 |
rs917926 |
|
A
kinase (PRKA) anchor protein 1 |
AKAP1 |
Intron |
17 |
55650170 |
0.15 |
0.33 |
0.42 |
0.27 |
hCV2675671 |
GCTAGTTGCCAAGTGGTCACACAGAGCTGAAGTTAGGCAC[A/G]TGCTACAGCCACAGGCCTCAGCATTCATCTGCTCACTCCA |
T |
T |
C___2675664_10 |
rs2058578 |
|
A
kinase (PRKA) anchor protein 1 |
AKAP1 |
Intron |
17 |
55653966 |
0.4 |
0.36 |
0.14 |
0.33 |
hCV2675664 |
ATTATGGAATCCACTGACATACCGATGTTACCGAAAGAAG[A/T]TGATCTCATGTGCCGACATGGAAAAAATCACCTGGATACG |
A |
A |
C____349718_1_ |
rs2241073 |
IMS-JST012826 |
A
kinase (PRKA) anchor protein 1 |
AKAP1 |
Intron |
17 |
55659318 |
0.43 |
0.42 |
0.13 |
0.34 |
hCV349718 |
CTAACTCCTCAGTTACCCACCAGCTCTACGCCGTGTCCAG[A/C]CCTCTGCAGGTTGCGATAAAGAGCTGAAGAGCACTATGAC |
T |
T |
C___2616220_1_ |
rs2301702 |
IMS-JST057851 |
A
kinase (PRKA) anchor protein 1 |
AKAP1 |
Intron |
17 |
55670197 |
0.12 |
0.19 |
0.33 |
0.34 |
hCV2616220 |
GGTCAGAGACAGAGCCTAGGCCTCCATATGACTCCCAGTG[G/A]ATAAACTAAGGGCCGCTACTGCATGTTGCCCACTGGTGCA |
T |
T |
C___2616221_10 |
rs4583 |
|
A
kinase (PRKA) anchor protein 1 |
AKAP1 |
UTR
3 |
17 |
55672440 |
|
|
0.44 |
0.5 |
hCV2616221 |
TCAGAGACGAAATGTCTTCTCAATAGGACTACAGTATGGA[T/G]AAAGAAAGGACTTTCTGGAGAGGACAATGTTTGTTATTCC |
C |
A |
C___1389060_10 |
|
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
55812533 |
|
|
0.13 |
0.22 |
hCV1389060 |
GGATTTTCCATTCTGTTGACGTACGTAAGACAGAGGTGTC[T/G]TTTTATAAATACTCCCCAGAGGGTGTTTTTTTTAGTTGGC |
C |
C |
C___1389091_10 |
|
|
hypothetical
protein FLJ11710|musashi homolog 2 (Drosophila) |
FLJ11710|MSI2 |
|
17 |
55837610 |
0.33 |
0.24 |
0.3 |
0.4 |
hCV1389091 |
GAACACAGAAGCTTCCCAGGCATGACTGTGGGGGCCGGAA[C/T]CTTCCACAAACTTTATTTGAAGGCTGCTAATAACATGCAG |
G |
G |
C___1389118_10 |
rs1534307 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
55865706 |
0.26 |
0.28 |
0.08 |
0.15 |
hCV1389118 |
TACGGTACACACAGAAGGCGTTGATAAACATGAACCGGAC[C/T]GAACTGAAAGCGGACCTCACCTTGCAAGCAGTAACTTCTC |
G |
G |
C___1228518_10 |
rs277067 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56040314 |
0.24 |
0.27 |
0.1 |
0.13 |
hCV1228518 |
AGGATAGGAAATTTCAACTATTGCTGATTATCTTTCATTA[C/T]TCAAGCAAGCTTCCGCAGATGCTGCAAGGAGGCGGATGTT |
A |
A |
C___1228494_10 |
|
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56053159 |
0.39 |
0.37 |
0.43 |
0.42 |
hCV1228494 |
GCCCCAGGGCCACAGAGACTTGGCTTCACACCTTACACTC[G/A]GGAACCACACGGCGATCTTGGGTGAGCGACAGAACAAGTT |
C |
C |
C___1228495_10 |
rs2877825 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56057324 |
0.18 |
0.06 |
0.17 |
0.15 |
hCV1228495 |
TAACTCTCCCAGGCTCCCTTTTCTTCTCTCACCCCATAAA[A/T]CTCCAGGGCGTCATCCATCCTACCTGATCCATGGCCCCCA |
T |
T |
C__11615635_10 |
|
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56071673 |
0.43 |
0.37 |
0.47 |
0.47 |
hCV11615635 |
AACCAACAAACACTGCTTTAAAACTCTACCAAAAAGTGAA[C/T]AGAGGTGATTAGGTAACCTCAAGGAAATGGAGGTATATTG |
A |
A |
C___1228510_10 |
rs2332928 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56079350 |
0.42 |
0.4 |
0.32 |
0.31 |
hCV1228510 |
AAGATCAACTGGTGTGTTTGTACACAGAGCAGTCACACTC[G/A]AGCATATGGTGATATGAGCATATCTCAGACTCAGACCCTG |
C |
C |
C___7957608_1_ |
rs1024820 |
IMS-JST012955 |
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56082229 |
0.39 |
0.21 |
0.14 |
0.39 |
hCV7957608 |
GGATGGGACAGAAGCAGCACAGGGAAAAACACAATTAAGT[G/A]CAGATGCCCTCTACACATTCCAGAGGCCCCACGGAGCATT |
T |
T |
C___1228517_10 |
rs1035173 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56082729 |
0.41 |
0.43 |
0.1 |
0.33 |
hCV1228517 |
CTCCAAACAGGAAAGACATACAGTCAGTGCTGGGTAACTG[T/C]TTCTAATCACAGGTGACAGCAGGAATGTAAACAACACAGG |
A |
A |
C__11615642_1_ |
rs3744088 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56084060 |
0.3 |
0.16 |
0.26 |
0.48 |
hCV11615642 |
GCCCTGCCCACGCTCCTTCCTGCCAGTGCCCACCAGGACT[C/G]CTGGAGAGCCAGCAATGATGTCCCGAAGCCATTCTGAGCA |
G |
G |
C___1228554_10 |
rs870780 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56096235 |
0.33 |
0.38 |
0.36 |
0.46 |
hCV1228554 |
CCTAAAATAAAGCAAAATAAAACAGGGGCAGGTGTCTTCT[T/C]TCCTATTTTGATCCTTTATAGCGTTTTTGATTCCAGTTTA |
G |
G |
C___7596579_1_ |
rs1362507 |
IMS-JST024825 |
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56101994 |
0.23 |
0.43 |
0.1 |
0.27 |
hCV7596579 |
CCCCAGCTCAGGAGTGACCACAGCCTGTGAAGATGCTGCT[T/C]CTGCTCCAGCATCAACCCTCCTCCAAATGCTTGGATGCCT |
A |
A |
C___1228564_10 |
rs1477065 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56122465 |
0.28 |
0.38 |
0.39 |
0.45 |
hCV1228564 |
AGAGACCCCTGTTCTCATCATAGCTCCTATGCTCCCTGCA[A/C]AACCGTGGATAACTCACAAATAATTAAGGCACAGATTTCA |
G |
G |
C__11937162_10 |
|
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56128074 |
0.28 |
0.42 |
0.18 |
0.17 |
hCV11937162 |
TGGCCTTCCCACAGTGTCTGTCTTACAAATGATTCCTAAA[G/A]ACTAAATCAGTTCTGACCAGAGGCAGTTAGTCCCAGACCA |
C |
C |
C___1228574_10 |
rs888116 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56137657 |
0.23 |
0.32 |
0.12 |
0.16 |
hCV1228574 |
TGGTACCCCCAGCTACTCCACTGAAGAGTGGGTTTCAAAT[C/T]TGTCACCTTCTCTCACGTTCATCCTCCAGCCTCATCCATG |
G |
G |
C___1228579_10 |
|
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56140654 |
|
|
0.12 |
0.17 |
hCV1228579 |
GAGAGTGGGGAAAGATATGGTCATCCACTCCAGCTCTATG[T/C]TGGCTTCCCCTGCACCCTGAAGTATGTGATTTCTTAAATA |
G |
G |
C___1228595_10 |
|
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56153213 |
0.39 |
0.21 |
0.23 |
0.36 |
hCV1228595 |
TGTGGCAGTGGAGGAAGAGGCATGGAGATCTGGGACCTGT[A/T]AAACCCAAGCGTGGTCCTTCTCCCTAGCTGGGAATCTGGC |
T |
T |
C__11882792_10 |
|
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56159514 |
|
|
0.4 |
0.34 |
hCV11882792 |
AGGCACTGTCCTTGTGGACAGGGACCAGCGTGTGGCCAAG[C/G]ACCAGGGGACCTACTTGTAAATGATAACTTTCCTTGTTCT |
C |
C |
C___2583412_10 |
|
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56196306 |
0.25 |
0.09 |
0.4 |
0.25 |
hCV2583412 |
GGACTCACATCAGAACAGGGGGTGCAAAGAGGAGGAACAA[T/C]TGATAACCAAAGGGACACACTTACATGATCAGACTGTCAC |
G |
G |
C___7596600_10 |
|
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56208011 |
0.26 |
0.11 |
0.43 |
0.46 |
hCV7596600 |
GTACTACAACTACAGCTACGGCTACCAGTACATCTACTAC[A/G]GTGCATGCATTTAGTTCAGTCCCACAGATACATACAATCT |
C |
C |
C___2583379_10 |
rs4793559 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56220915 |
|
|
0.46 |
0.33 |
hCV2583379 |
GCAATGATGTCCAACCTGGGAAAATTGTATGACATGCTAA[G/A]TTAAAATCAAATCAGTTCAGGGACCCAGATGCAGGGACAA |
T |
T |
C___2583361_10 |
rs1003313 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56227897 |
0.22 |
0.22 |
0.42 |
0.32 |
hCV2583361 |
GCACATTCATGCTCACACACACCGGGAGGGAGAAGAACAA[T/C]ACAATCTGAAAACAGCATGCAAATCTGTTAAGCAAATTTC |
A |
A |
C___2583358_10 |
rs4793560 |
|
musashi
homolog 2 (Drosophila) |
MSI2 |
|
17 |
56231478 |
|
|
0.44 |
0.36 |
hCV2583358 |
GAAGAAAACATAAAGTGGAGGGGAGAGGGGAGGAGAAAGA[A/C]GTGTCAGACAAGTATGCGATTTCCTCCACTGTTTTAACTA |
G |
G |
C___2583296_10 |
rs2332966 |
|
|
|
|
17 |
56293973 |
0.49 |
0.5 |
0.36 |
0.45 |
hCV2583296 |
AATATCTAAAGAAAATCAAGGTTTCATTAGTGAGGCTGGT[G/A]GTAATCAACCCCAGCTGCCACATCCTCAGTCTTATTTTTT |
C |
C |
C__11882576_10 |
|
|
|
|
|
17 |
56300463 |
0.44 |
0.38 |
0.37 |
0.42 |
hCV11882576 |
TCTTGTCCCCCCAACATCCTGAGACATGAGGAGGCTGTAA[C/T]CACTGAAATAGGCCAGGTACAGAGAAACCCATCTGACAGT |
A |
A |
C__11882574_10 |
|
|
|
|
|
17 |
56308258 |
0.21 |
0.04 |
0.32 |
0.38 |
hCV11882574 |
GGGGTGGGAGGAGACAAGGAGACAGCCTGCTTGCCTCCCA[C/T]GGCTTGGTTGAAAAACCAAAGTCAGGCTCGGCAGTGGTTG |
A |
A |
C___7958432_10 |
rs1443267 |
|
mitochondrial
ribosomal protein S23 |
MRPS23 |
|
17 |
56386080 |
0.18 |
0.22 |
0.07 |
0.22 |
hCV7958432 |
TTGCTAGGGGAAGGCAGAGAAGGCAGGAAGTTAAGTGTTA[C/T]GTTCCCTACAAAATGTTGCTACTGCCAGCCACCACCACCA |
A |
A |
C___7958473_10 |
|
|
mitochondrial
ribosomal protein S23 |
MRPS23 |
|
17 |
56391279 |
0.47 |
0.35 |
0.08 |
0.4 |
hCV7958473 |
AGAACGATTATCTCTCCACTTGAGAGGCCAAGCTGACTTG[A/C]GCTTTGTGGTAAGAGTGAGGACCTGTCATTGCTGATACAC |
G |
G |
C___7958490_10 |
|
|
mitochondrial
ribosomal protein S23 |
MRPS23 |
Intron |
17 |
56400261 |
0.33 |
0.08 |
0.17 |
0.33 |
hCV7958490 |
ACTTCCTCTTTTATTATAAAAGCAACACATGCTACTTGTA[G/C]AAAATTTAGATACACAAAGAAAGCATAAAAAGAAATCACA |
C |
C |
C__25753370_10 |
|
|
chromosome
14 open reading frame 34 |
C14orf34 |
Intron |
17 |
56415408 |
0.34 |
0.21 |
0.13 |
0.1 |
hCV25753370 |
GACCCAGGCAGAGTTCTACGGTTGACCTCGAGTCCCTGGA[A/G]AAAGGAGAGGGCTTACGTCTTTAGTAACTTCTCCCAAAAC |
C |
C |
C___2574710_10 |
|
|
dynein
light chain 2 |
Dlc2 |
|
17 |
56629649 |
|
|
0.1 |
0.06 |
hCV2574710 |
TGTCATAAAAATGTACACTATGGTCTTTCACCGTTGGTCC[C/T]TGACAGTGAGGTGGGGAATGGGGGTGGGGAGCCCTACCAA |
G |
G |
C___2600878_10 |
|
|
eosinophil
peroxidase |
EPX |
Mis-sense
Mutation |
17 |
56745732 |
|
|
0.11 |
0.04 |
hCV2600878 |
CCCGGAGAGCACAGCCACTGGCCTGGGACAGCAGCCGCAG[C/G]TGTGGTTCTGTTAGCACATCTGTGGGAAGGCAAATGGGCA |
C |
C |
C__25610127_10 |
rs3213698 |
|
eosinophil
peroxidase|hypothetical protein FLJ20345 |
EPX|FLJ20345 |
Intron |
17 |
56764183 |
|
|
0.3 |
0.12 |
hCV25610127 |
GTTTTGCAACATTGCATGTTGATAGAGAACTGTTAATGCT[A/G]AGAAAAAGGTCTGAAAGGCTATGCACATGCTGTGGGTGGC |
C |
C |
C___2600886_1_ |
rs3744105 |
|
eosinophil
peroxidase|hypothetical protein FLJ20345 |
EPX|FLJ20345 |
Intron |
17 |
56765194 |
0.44 |
0.24 |
0.3 |
0.1 |
hCV2600886 |
TCCTGGTCGTCAATACAGCCACTTTTATCATCATATACTT[C/T]AGTGAGGTGTATGGCCCCTGATCGCTCATCCCTGGGCTGG |
G |
G |
C___2563022_10 |
|
|
|
|
|
17 |
56802637 |
|
|
0.34 |
0.17 |
hCV2563022 |
CTGCTACATCAGGGTGGGCAAGGGGCTAGTCAGAGATGCC[C/T]AGCTGCAGGGCCGTACCATGATGGGGAAGCAGTTGTCTCC |
G |
G |
C__25609936_10 |
|
|
myeloperoxidase |
MPO |
Mis-sense
Mutation |
17 |
56832456 |
0.07 |
0.18 |
0.17 |
0.09 |
hCV25609936 |
GGGCCCATTCCTGACTTTGTGATCCCTGCTCTGGGCAGCT[G/T]TCCTGGGGGAGGTGGACACCTCGTTGGTGCTGAGCTCCAT |
A |
A |
C___2562971_1_ |
rs2240261 |
IMS-JST011759 |
benzodiazapine
receptor (peripheral) associated protein 1 |
BZRAP1 |
Intron |
17 |
56856027 |
0.3 |
0.32 |
0.12 |
0.07 |
hCV2562971 |
TCCTATTCTATAACACATGTGGTTTATAGAACATGACGTG[A/G]CATCCATATTAGGACTCATCAGTGGTATTATGATACTGTG |
C |
C |
C____347373_1_ |
rs3744099 |
|
benzodiazapine
receptor (peripheral) associated protein 1 |
BZRAP1 |
Mis-sense
Mutation |
17 |
56862941 |
0.08 |
0.01 |
0.16 |
0.09 |
hCV347373 |
GCCTCCCCAGGGCCTGGAGACCCCAGCTCTCCTCTCCAGC[A/T]CCCTGCTCCCCTTGGAACTCAAGAGCCTCCAGGAGCACCC |
A |
A |
C___2562963_1_ |
rs2072144 |
|
benzodiazapine
receptor (peripheral) associated protein 1 |
BZRAP1 |
Intron |
17 |
56863565 |
0.36 |
0.27 |
0.27 |
0.14 |
hCV2562963 |
GTCACAGGCTATGCCATCTACGCTGATGGGCAGAAGGTAT[G/A]GCCCTGCCCACTGTACCCTGGGAGTGGGGGTGGGTCCCTT |
C |
C |
C__16033861_10 |
rs2526378 |
|
benzodiazapine
receptor (peripheral) associated protein 1 |
BZRAP1 |
Intron |
17 |
56878987 |
0.49 |
0.46 |
0.5 |
0.46 |
hCV16033861 |
GAAGGATCAGGGAGGAGCAGGAGGGTGCCAGGTTTGGGGG[C/T]GTCTATGTGGACAGGGAGGACTGGACAGTTCCTTCTCCTA |
A |
G |
C___2562953_1_ |
rs3744097 |
|
benzodiazapine
receptor (peripheral) associated protein 1|suppressor of Ty 4 homolog 1 (S.
cerevisiae) |
BZRAP1|SUPT4H1 |
|
17 |
56887291 |
|
|
0.07 |
0.03 |
hCV2562953 |
AGGATTCCAAGCCCAGATCCCTCTATCCTGATGAAGGGCT[A/G]TTCCCACCTTGTTCCTGCCGCCCCCGCCCCCTACTTCCTC |
T |
T |
C___2965384_10 |
|
|
hypothetical
protein FLJ20315|suppressor of Ty 4 homolog 1 (S. cerevisiae) |
FLJ20315|SUPT4H1 |
Silent
Mutation |
17 |
56909495 |
|
|
0.5 |
0.49 |
hCV2965384 |
GGAGTTCTGACACCGCAGAGGGCAGGCCATGCCCTTATCC[A/G]CACTGCCAGGTGCTGTCGGCCCAGCCTGGTGAGTTTTCAG |
C |
C |
C___2562919_1_ |
rs2240259 |
IMS-JST011757 |
hypothetical
protein FLJ20315 |
FLJ20315 |
Intron |
17 |
56932767 |
0.15 |
0.17 |
0.11 |
0.26 |
hCV2562919 |
GACCTGGACTATGTGTGAAGTAACCATGTTAATGAAGCTA[G/T]TTCGCACTCTTGCACTGCAATCACCAAACTTAGCAATGCT |
C |
C |
C___2562918_1_ |
rs2240258 |
IMS-JST011756 |
hypothetical
protein FLJ20315 |
FLJ20315 |
Intron |
17 |
56932821 |
0.13 |
0.08 |
0.09 |
0.26 |
hCV2562918 |
TTGCAGGACACCTTGAAATCCCTACAGCCTCTGAGCAGGA[G/T]ACTAAGCCTGAAAGACCTGGACTATGTGTGAAGTAACCAT |
A |
A |
C___2562916_10 |
|
|
hypothetical
protein FLJ20315 |
FLJ20315 |
Intron |
17 |
56936661 |
|
|
0.36 |
0.23 |
hCV2562916 |
GTCTGTCAAGTCTCCCTTCATTAGATTTAGTACCTGAAAC[T/C]GATGCCCAGAAGCCAGGTCACAAGCCCAATATGCATTGCA |
A |
A |
C___2562909_10 |
rs1476596 |
|
hypothetical
protein FLJ20315 |
FLJ20315 |
Intron |
17 |
56959996 |
0.27 |
0.27 |
0.44 |
0.49 |
hCV2562909 |
CTCCAGAAGTAAAAATTGATGTCTGACAAAGATCTTCTTA[C/T]GTGTAGTAAATGAATTCTGCTCTCCAAATATGAAGTGAAA |
A |
A |
C___1175177_1_ |
rs3744093 |
|
hypothetical
protein FLJ20315 |
FLJ20315 |
Mis-sense
Mutation |
17 |
56967438 |
|
|
0.44 |
0.49 |
hCV1175177 |
AGCAGCGGTGGAGTCTGAAAGATCAGCAGAACAGAAAGCT[A/G]TTATCAGAGTGATCCCCTTGAAAATGGACCCCACAGGAAA |
T |
T |
C___2956818_10 |
rs3087762 |
|
myotubularin
related protein 4 |
MTMR4 |
UTR
3 |
17 |
57043318 |
0.15 |
0.17 |
0.11 |
0.26 |
hCV2956818 |
ATGTTGCCTGGTGCAAAGTGCCCCAAACAGCAATAGAAAG[A/G]CATATGTATAACCAAACTCCAAGTGATAACCAGACCCATC |
T |
T |
C__11624284_10 |
|
|
myotubularin
related protein 4 |
MTMR4 |
Intron |
17 |
57053146 |
0.13 |
0.08 |
0.11 |
0.26 |
hCV11624284 |
GGTTGAATATTATAAAGGAAAACAAAAAGCCCAGCATCCC[C/A]AATTATTGGTTTTAGGGTCTTTTGAACTAAGTCATTGTGA |
G |
G |
C__15871639_10 |
rs2240719 |
|
myotubularin
related protein 4 |
MTMR4 |
Intron |
17 |
57057115 |
0.13 |
0.17 |
0.11 |
0.26 |
hCV15871639 |
|
#N/A |
#N/A |
C___2644095_1_ |
rs2302190 |
IMS-JST058481 |
myotubularinrelated
protein 4 |
MTMR4 |
Mis-sense
Mutation |
17 |
57059146 |
0.31 |
0.41 |
0.32 |
0.28 |
hCV2644095 |
GGCCACTGGGGGCTCCCTCAGCACCGGGAATAATGATACC[A/G]GCGAGGCGTGTGATGCTGACTTTGGTAAGGTGTGGATGAT |
C |
C |
C___2644106_10 |
|
|
peanut-like
2 (Drosophila) |
PNUTL2 |
Intron |
17 |
57081553 |
0.26 |
0.27 |
0.33 |
0.24 |
hCV2644106 |
AGGCCACAGTGTCCTTGGGGGTTAACAGGAGAGGTCAAAT[G/A]GATCAAAAGCCTGGCTGCAAACAGACATTGGGAGGTTGGT |
T |
T |
C___2956839_1_ |
rs3744111 |
|
hypothetical
protein FLJ40121|peanut-like 2 (Drosophila) |
FLJ40121|PNUTL2 |
Intron |
17 |
57082597 |
0.27 |
0.29 |
0.33 |
0.24 |
hCV2956839 |
AACTTCAGTTCAGCTGAGGTCTTGGTGCTTTCGGCTTGTC[C/T]GAGGCCACACTGTTCTTCTCTAATTAAAGACACACCCCCC |
A |
A |
C__11619827_10 |
|
|
testis
expressed sequence 14 |
TEX14 |
Intron |
17 |
57146947 |
|
|
0.11 |
0.26 |
hCV11619827 |
GGAGCATGTAGTAATTTTTTGTGCCTCCTTCTCACTTTTA[C/T]ACATCTTGCTCCCATCTCAAACTCCATATTTGTTGCCTTA |
A |
A |
C____810755_10 |
rs302873 |
|
RAD51
homolog C (S. cerevisiae) |
RAD51C |
|
17 |
57244119 |
|
|
0.46 |
0.5 |
hCV810755 |
GGCCCACAATCCCTCGCGAGGGCGGGAAAAGCAATGTGGT[G/C]GTTGCGGGGGGGGGGGGTCAGAAAAGGGGGACGGTCAGCG |
G |
C |
C____810775_10 |
|
|
protein
phosphatase 1E (PP2C domain containing) |
PPM1E |
Intron |
17 |
57308867 |
0.29 |
0.31 |
0.46 |
0.49 |
hCV810775 |
CAGCCCGGGAAAAGACAGACTGGGGTGGGAGGAAACCTCC[A/C]GGAGAAAGAAGGGATCTGGGAAGAAGAGGGAGCTCAAGCC |
T |
T |
C___1239933_10 |
|
|
protein
phosphatase 1E (PP2C domain containing) |
PPM1E |
Intron |
17 |
57375376 |
0.14 |
0.14 |
0.1 |
0.27 |
hCV1239933 |
TAAATCTTTCAGAGAACAGCGTTATCACAATCCTGAGAAA[C/T]CATTCCTGTGCCTAGAATTTCAAGTAAGTCTGTCTTTCAT |
A |
A |
C__11618022_10 |
|
|
protein
phosphatase 1E (PP2C domain containing) |
PPM1E |
Intron |
17 |
57375508 |
0.42 |
0.1 |
0.28 |
0.5 |
hCV11618022 |
TCAGATAGCAGCCAGCAATGTTATTTTCAAAGAGTAACTA[C/T]AGATGCATAAGATTCATTCTCCTATATTCATTACTGTCAT |
G |
A |
C_____33690_10 |
|
|
protein
phosphatase 1E (PP2C domain containing) |
PPM1E |
Intron |
17 |
57411288 |
|
|
0.1 |
0.27 |
hCV33690 |
ATTCTCCTTGCCATGGGACATGACTCTCTAGTAATAAGCC[C/T]TCCTAGCAATGGAAGACTGAGCTCCTGAAAATAAAAGAAG |
G |
G |
C___1566404_10 |
|
|
protein
phosphatase 1E (PP2C domain containing) |
PPM1E |
Intron |
17 |
57488224 |
0.3 |
0.31 |
0.43 |
0.5 |
hCV1566404 |
TAAAAATTCTTGAAGGTGGGAAGTTTCCATCAATTAACTT[G/T]GAGAGAGACTCGTCTGGAGCAGCCTCATCTCAGCCCACAT |
A |
A |
C___2585698_10 |
rs3826353 |
|
tripartite
motif-containing 37 |
TRIM37 |
|
17 |
57549720 |
0.27 |
0.3 |
0.44 |
0.45 |
hCV2585698 |
TTTAGGACAGGAAAGTAGTTTCCCCCTCGTTTCCAAGCCA[T/C]CTTATATACTAAAGCTGCTCTGAGTTCCTTGGTGATGTCG |
A |
A |
C__11624163_10 |
|
|
tripartite
motif-containing 37 |
TRIM37 |
Intron |
17 |
57588569 |
0.5 |
0.21 |
0.33 |
0.2 |
hCV11624163 |
TTAATGTTTTAGAACTACACAATTGTCTAAAGAGTTATGT[C/G]ATCTAAAGAATTACGATGTTAAGTTATGCGTTAAAAAGGG |
C |
C |
C____439844_10 |
|
|
tripartite
motif-containing 37 |
TRIM37 |
Intron |
17 |
57638616 |
0.17 |
0.14 |
0.1 |
0.26 |
hCV439844 |
GAATAGACTGCTACAATTTGCTAACCTGCTAGTCTTTCTT[A/T]CTTGCTGTTTGATGCCTACTGGCCTCCCCTTGCTGCAAGT |
A |
A |
C__11617160_10 |
|
|
hypothetical
protein FLJ11029|family with sequence similarity 33, member A|hypothetical
protein LOC348235 |
FLJ11029|FAM33A|LOC348235 |
Intron |
17 |
57716359 |
0.3 |
0.33 |
0.3 |
0.42 |
hCV11617160 |
CTATCTAAGGCTGAGTCCACTGATTGGGAGCCCTAGAATC[T/C]GAAATTTCCTAGCATCTTCCTTTTCTTTGTCTTCCATCTG |
A |
A |
C_____29147_10 |
rs735023 |
|
hypothetical
protein FLJ11029 |
FLJ11029 |
Intron |
17 |
57734780 |
0.17 |
0.02 |
0.13 |
0.01 |
hCV29147 |
TCTCGAGGCTGAGAGAAGTCAGGAGTGGAGAACAGCTCTG[C/A]GAAGATGCAGTTGTCCACTTGAGCTCCCAGATGCCCATGG |
C |
C |
C___1161641_1_ |
rs3744383 |
|
hypothetical
protein FLJ10587|hypothetical protein FLJ11029|hypothetical protein FLJ37451 |
FLJ10587|FLJ11029|FLJ37451 |
Mis-sense
MutationIntron |
17 |
57764804 |
0.29 |
0.41 |
0.47 |
0.48 |
hCV1161641 |
CAGAAGTTCATGGTCAAGTAGAAGTGAAAACTGAGAAGAG[G/A]CCAAACTTCGTTGATCGACAGGCATCCACAGTTGAGTATC |
A |
A |
C___1837662_10 |
|
|
hypothetical
protein FLJ10587|hypothetical protein FLJ37451 |
FLJ10587|FLJ37451 |
|
17 |
57771582 |
0.11 |
0.16 |
0.28 |
0.32 |
hCV1837662 |
ATTTCTCCCTCAGTCCTGGGTGATTTATTTCTTTTGCATT[G/A]AAGTGTGTGGCTTTTCGTGTGTTAGCAGTTTGTAATTTGT |
A |
A |
C___1331741_10 |
|
|
hypothetical
protein FLJ37451 |
FLJ37451 |
|
17 |
57827321 |
0.3 |
0.37 |
0.48 |
0.47 |
hCV1331741 |
AAGATGGTATTTAAAATCTAGATGTAGGCTCAGTTAGTCA[A/G]TGCCAAAAATGGAAATCTTACATTTTTTTAGAGGAAACAC |
T |
T |
C___1331714_10 |
rs1026219 |
|
|
|
|
17 |
57878634 |
0.39 |
0.08 |
0.13 |
0.16 |
hCV1331714 |
TCTGTTATCCTGAAATATCCCAATTGCCTTTACAAGAAAA[C/T]ACCCAAAGATCAAACTACTCCACAAAGCAAAACCCTACGC |
A |
A |
C____618810_10 |
|
|
|
|
|
17 |
57885062 |
0.12 |
0.25 |
0.4 |
0.45 |
hCV618810 |
GGCTCCCACTGCACTCCTGCCTGAGATCCTATCATGGAGC[G/T]GGGGACAGGGGATGGTGCCAAGGGGGAAGTCTGCACAGCT |
C |
C |
C___1331710_10 |
rs930710 |
|
|
|
|
17 |
57894419 |
0.38 |
0.22 |
0.36 |
0.31 |
hCV1331710 |
ACACCAGTCCTTCCTTTTGTATTTGATCATGCTCAGAGAT[G/A]ATAATCCTGGTTAAAACAAAACAAATAGATTTTTCCCATG |
T |
T |
C___1331709_10 |
rs930709 |
|
|
|
|
17 |
57896989 |
0.33 |
0.06 |
0.13 |
0.15 |
hCV1331709 |
TATACGTCAGATGATAATCCTACATGATCTCTAGAATTCT[C/T]TCAGCCTTTAAAGTCCTGGTTCCATGTAGTAGTGATGCTC |
G |
G |
C___1331692_10 |
|
|
|
|
|
17 |
57909793 |
0.06 |
0.13 |
0.11 |
0.09 |
hCV1331692 |
CCCATAATTCTAGAAATTCCTTATTTGTCACCAGAAGATA[A/G]TCTGACCTATAGATCTGACATAACAATAGCGTAAATAGTT |
C |
C |
C__11887558_10 |
|
|
|
|
|
17 |
57922386 |
|
|
0.24 |
0.18 |
hCV11887558 |
AACAGGGGGTTACCTGGAGATTTCAAAGCGAGGCAGACAG[C/T]CTGAGAAGGACCAATGGAAGGGCTTGTGTTGGGTTCCTCT |
A |
A |
C__11887557_10 |
|
|
|
|
|
17 |
57922443 |
|
|
0.24 |
0.18 |
hCV11887557 |
AGAAACAAGCCGAAGCAATCTGGGGTGCCATGTTTGGTCC[C/G]AGTGTAAGACGCCAGGAACAGGGGGTTACCTGGAGATTTC |
G |
G |
C___3002625_10 |
|
|
|
|
|
17 |
57952037 |
0.43 |
0.08 |
0.26 |
0.18 |
hCV3002625 |
ATATCCACTTGAAAATCTCTTTATAAAGGGTCATCTCTTT[C/T]GCACACACTGATCCACCAGTAAAAATGCACTCTAGCCTAT |
G |
G |
C___3002631_10 |
|
|
|
|
|
17 |
57955219 |
0.31 |
0.34 |
0.26 |
0.24 |
hCV3002631 |
ATGGGGATAGTGTCCTCTCCCCTCCCTTTCTCCCAGCAGG[T/G]AAACAAGAGCTTGAAAGAATGAGGACCCAAGGATGGCTTG |
A |
A |
C____506128_10 |
|
|
PRO0456
protein|clathrin, heavy polypeptide (Hc)|DEAH (Asp-Glu-Ala-His) box
polypeptide 40|hypothetical protein FLJ22060 |
PRO0456|CLTC|DHX40|FLJ22060 |
Intron |
17 |
58177274 |
0.16 |
0.3 |
0.43 |
0.47 |
hCV506128 |
TCAATTCAGACCCTATTTTCTTTGGAAATCCTGGTCCGTA[G/T]TTAGAGTTCATAAAATTTACAGTTAGAAAGGCAGATTTGG |
G |
T |
C__11627821_10 |
|
|
clathrin,
heavy polypeptide (Hc) |
CLTC |
Intron |
17 |
58194302 |
0.06 |
0.18 |
0.06 |
0 |
hCV11627821 |
TATGAGCCCACTGGAATGTTTTCTCCAATTATCGGAAAGG[A/C]TAATTATCAATTAAACTTAAGGAGTCTAAGGACCCTCTAC |
A |
A |
C___1550794_10 |
|
|
clathrin,
heavy polypeptide (Hc) |
CLTC |
Intron |
17 |
58218833 |
0.09 |
0.29 |
0.06 |
0 |
hCV1550794 |
ACTTAAGGTAGCCAAGAAGAGGTATGCTTATGATCAGGCT[A/G]TTGGAAATTTTGTTTTTCTAAAAATTTGGTTCTATGGGAC |
G |
G |
C___1550785_10 |
rs2271303 |
|
clathrin,
heavy polypeptide (Hc) |
CLTC |
Intron |
17 |
58237292 |
0.04 |
0.29 |
0.49 |
0.49 |
hCV1550785 |
|
#N/A |
#N/A |
C___1550781_10 |
|
|
CGI-147
protein|clathrin, heavy polypeptide (Hc) |
CGI-147|CLTC |
Intron |
17 |
58240129 |
0.08 |
0.15 |
0.06 |
0 |
hCV1550781 |
ACCAAAATAACTGACTGCATGTTACTTTTCCTCTGCAGCA[C/T]ATTGCAGTCTTTGTGGAAAAGCCTTTTACATTTTAGTGAA |
C |
C |
C___2744710_10 |
rs2150879 |
|
likely
ortholog of rat vacuole membrane protein 1 |
VMP1 |
Intron |
17 |
58333631 |
0.34 |
0.2 |
0.33 |
0.43 |
hCV2744710 |
TTACTGGTTTACATATTTAAGAAGATGCTCTTTGTCATAT[G/A]CTGCCAGTATTATTCCTTATTCCCAGTAGTTTTTCCATGT |
A |
A |
C___8731937_10 |
rs1296279 |
|
likely
ortholog of mouse tubulin, delta 1|ribosomal protein S6 kinase, 70kDa,
polypeptide 1 |
TUBD1|RPS6KB1 |
Intron |
17 |
58440152 |
0.15 |
0.08 |
0.44 |
0.44 |
hCV8731937 |
ACCTCCTATATACTCCTTGAAACTGTTCTTCCCTTTCCAC[T/C]TTCACTGACTTGCTTTAGTCTGGCTTTTGTTCTTTCTTAC |
A |
A |
C____347870_10 |
|
|
ribosomal
protein S6 kinase, 70kDa, polypeptide 1 |
RPS6KB1 |
Intron |
17 |
58464281 |
|
|
0.4 |
0.45 |
hCV347870 |
CAAACAGAACAGCAGGTCAAGAGGAGGGTGGCCTGATAAT[T/C]GTTTGCCTCCTTGTTCATAGAATGGGCAATCAATTATTTA |
G |
G |
C__22272798_10 |
|
|
amplified
in breast cancer 1|hypothetical protein FLJ22087 |
ABC1|FLJ22087 |
Mis-sense
Mutation |
17 |
58595874 |
|
|
0.08 |
0.05 |
hCV22272798 |
ACAGCCCCATGGACCTCCCAGGCCTACAATGCCCTGACAT[C/T]GGTCGTGACATCATGCAAGAACTTCAAAGTGCGCATCAGA |
T |
T |
C____572470_10 |
rs740646 |
|
amplified
in breast cancer 1|hypothetical protein FLJ22087 |
ABC1|FLJ22087 |
Intron |
17 |
58616611 |
0.07 |
0.22 |
0.05 |
0.06 |
hCV572470 |
CATAGCTGATGAAAATGAATTGGAATAATTTTCATGATGT[C/T]TATATCTTCATATATTTTTAAATGTTTACATTTCACTTAA |
C |
C |
C___3145999_10 |
rs3744375 |
|
amplified
in breast cancer 1|hypothetical protein FLJ22087 |
ABC1|FLJ22087 |
Intron |
17 |
58624166 |
0.36 |
0.17 |
0.49 |
0.5 |
hCV3145999 |
CTAATAGTCTATATTACTGCTATTTTTAATTAGTCTTTTG[T/C]AAGCCTCATTTTAAAGGAGACTGAGTTTGAGTTGTTTTCT |
C |
C |
C___8732019_10 |
|
|
|
|
|
17 |
58658275 |
0.08 |
0.05 |
0.33 |
0.49 |
hCV8732019 |
TCTTTTCCTGTTCTTTGCAAAGTCCAGCTAGAGCAAGCAA[C/G]TTCTTCCCAATGGGTTTTTCCCATCTCTGGTTGGCTGGCT |
C |
C |
C____959426_10 |
|
|
carbonic
anhydrase IV |
CA4 |
|
17 |
58698989 |
|
|
0.18 |
0.14 |
hCV959426 |
AGGCAGCATTGGGTGGGATGGAACATTGAGTTAGCACTGG[G/A]GAGGGGCCCTGGCACATCCAGGCTCTTCCTGGGCTCCCAA |
G |
G |
C____959417_10 |
rs345189 |
|
carbonic
anhydrase IV |
CA4 |
Intron |
17 |
58704569 |
0.06 |
0.41 |
0.07 |
0.07 |
hCV959417 |
TCTGACAGGTGCAGCCACCAAATTCCCAGTGCTGGTGACT[A/G]AGGAGATAATAAATCAGAGGGCATTTGCACCATGACAGTT |
G |
G |
C____959410_10 |
rs345182 |
|
carbonic
anhydrase IV|hypothetical protein FLJ11800 |
CA4|FLJ11800 |
|
17 |
58715185 |
0.17 |
0.31 |
0.19 |
0.24 |
hCV959410 |
TGGGGGGACCAAGGGTAGCCCCTTCTGCAGATGGATGAAC[C/T]GAGGCCCAGAGCAGGGAGCATGCCTCCATGCCCATGGAGC |
C |
C |
C___2277872_10 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59542042 |
0.01 |
0.48 |
0.06 |
0.14 |
hCV2277872 |
GGGTCACCCTTGCATGGTAATTTTCTCTGTCTCCACTGTT[G/A]TCTTGAATCTTCCTTCCCTTTGTCCTTATTTTTACAGATC |
C |
C |
C__11886806_20 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59720391 |
|
|
0.18 |
0.15 |
hCV11886806 |
TTAGGCCACAAGTTTGAGGCTTAATGGTAGATCAAAAAAT[A/G]TATGATATGCTTGAGAGATCAAGACAGCAAATTGATTACT |
T |
T |
C__15855228_10 |
rs2215295 |
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59732476 |
0.23 |
0.44 |
0.19 |
0.28 |
hCV15855228 |
GTCTGAGGAGCATCAGTCCCATGCTTCGTGTCTGCACAGT[G/A]GAACATAAAGCAGCAGCTTAGATGGCATATGGCACTATCT |
C |
C |
C___7594947_10 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59740339 |
0.24 |
0.34 |
0.18 |
0.28 |
hCV7594947 |
TTTGATTACTAGGATATTTTACTTACCTTTAAACAACTTT[A/G]TTGTTATTGGTGATTCTCTTTCTTTTTCTCTAAACCTTAG |
T |
T |
C__16152741_10 |
rs2191164 |
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59751373 |
0.06 |
0.12 |
0.18 |
0.28 |
hCV16152741 |
TGACTGCACCTTGTGAAAGGTTAGAACTGGGATAATAACT[A/G]TGATGAACAAGTTATTCAAGAAATACTTGCAAGGTGGACA |
C |
C |
C___2953323_10 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59779033 |
0.27 |
0.28 |
0.29 |
0.15 |
hCV2953323 |
GGCCACAGACTGCTCTGAGAAGCTAGTGCAATTTATGAGT[C/T]CTCTTCTGAAAAAAATGCAGATACTCATACATATACAATG |
G |
G |
C___2273887_10 |
rs758466 |
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59788734 |
0.33 |
0.43 |
0.13 |
0.25 |
hCV2273887 |
GGATGTGAAGGGAGGTAATAAAAGAGAAGACTGAAAAAGT[A/C]GAATAGCCTCTGCATAGCGGACTTAGGATGCCAGGCCTGA |
T |
T |
C____336982_10 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59798370 |
0.13 |
0.24 |
0.1 |
0.1 |
hCV336982 |
ACCAACCAGAAGTCAATGTAGGAGCCTTGGTGTTAGGTGT[A/G]GGCTAGGGGTGGCACCTGACACGGCATCACTGGAGCCTGT |
T |
T |
C___2588859_10 |
rs1157995 |
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59812844 |
0.42 |
0.42 |
0.13 |
0.25 |
hCV2588859 |
GAAGAAATTATTTAAAGGGTGAATGCTCTCCCAAACTATC[A/G]TCAAACGCATTTATCTAATTTGACACATTTTGCCTGGAAG |
T |
T |
C___2588832_10 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59832645 |
0.11 |
0.26 |
0.08 |
0.1 |
hCV2588832 |
TTTGGGCAGCAAAGATGGAGCTATCTGGGAATGTCTCGAC[C/G]CTTAACAGGTTGAAGGCTTTCTCCAACAAGTCCCAACTGA |
C |
C |
C___2588823_10 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59840470 |
0.32 |
0.43 |
0.12 |
0.24 |
hCV2588823 |
AAGGAACCAAGTCGGCAGCAACCACAAGATATGGCGCACT[A/G]AAGGACTGGAAATTTTCTTGACAGTTTTTAATGCAGAGAT |
C |
C |
C___2588809_10 |
rs3785859 |
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59854159 |
0.47 |
0.33 |
0.28 |
0.29 |
hCV2588809 |
AACTCATGTCCACTTAATGTGAAAATTGGTACCATCTAAT[C/A]GAATCTTCAACATGCTAACCACACTATTCCAATAATGAAA |
T |
T |
C___2588797_10 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59882471 |
0.35 |
0.37 |
0.46 |
0.5 |
hCV2588797 |
GGAGTCCCCCTGCCCATCTGGCTATTCCTCAGAAACACAC[A/G]CCAGTGAGCACACAGGGGACACCTGAAGTGCACAGAGGAC |
T |
C |
C___2588787_10 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59904825 |
0.19 |
0.19 |
0.42 |
0.42 |
hCV2588787 |
GCAGCTGAAGGCAATTTGAGGATTGACCTCATGGGGTGGG[A/G]AGAGGGAGGAGAGGAAAGGGAGACATCAGTTGAATGTCTG |
C |
C |
C___2588775_10 |
|
|
breast
carcinoma amplified sequence 3 |
BCAS3 |
Intron |
17 |
59933616 |
0.07 |
0.21 |
0.08 |
0 |
hCV2588775 |
CTGGTAGGGTTGCTGTGAGCAGCATGTGGGACTCTAACAC[A/G]GGAGCTGGCCAGGAGTCTTAAAGGGACCTCAACCTCAGCA |
T |
T |
C__11886673_1_ |
rs2286530 |
IMS-JST037105 |
T-box
2|breast carcinoma amplified sequence 3 |
TBX2|BCAS3 |
UTR
3 |
17 |
59944476 |
0.17 |
0.24 |
0.09 |
0 |
hCV11886673 |
GGACATGCCTCTTCTTCCTCCTTTCTTTCCCCATCTGTTC[A/C]TGGGAAGAGTTTGTCTTTCTTATCTTTAAGCCCCTTTACC |
T |
T |
C___2588765_1_ |
rs2286526 |
IMS-JST037101 |
T-box
2|breast carcinoma amplified sequence 3 |
TBX2|BCAS3 |
|
17 |
59946478 |
0.31 |
0.38 |
0.41 |
0.3 |
hCV2588765 |
TTTACTACGGACTTCCTCTCAATTTGATGAAGGAAAAATA[C/T]CTTCATGATCTGGAAAGAGGCCGGTGGGAGCCAGCGTGGC |
A |
A |
C___2588755_10 |
rs887258 |
|
T-box
2|breast carcinoma amplified sequence 3 |
TBX2|BCAS3 |
Intron |
17 |
59954001 |
0.27 |
0.27 |
0.24 |
0.28 |
hCV2588755 |
CACAATCTCAGTTCCTCAGGCCGTGGAGGGTCCCTTGTAC[C/G]GTCAATAGGGAGGCAGGTGCTGCCAGGACTGGGTCTGCAG |
G |
G |
C___2588749_1_ |
rs2240736 |
IMS-JST012396 |
T-box
2 |
TBX2 |
Intron |
17 |
59959814 |
0.31 |
0.35 |
0.48 |
0.37 |
hCV2588749 |
GCCCAACTTCAGAAAGACTTCAGGCAAGATGTCTAACCCT[C/T]GTCTTGTTCTGTTTCTTCCAGGGAATTCCAATGCCCACTT |
A |
A |
C___2588743_10 |
rs758599 |
|
T-box
2 |
TBX2 |
|
17 |
59966689 |
0.36 |
0.45 |
0.28 |
0.33 |
hCV2588743 |
CGACAGGAGCAGCTGTGGAACAGCCACTGTGTGCTTAATA[A/T]ACATGCAGACATTTGATTGAATTCTCAGCACGGGGTGGCT |
T |
T |
C___2648887_1_ |
|
|
T-box
4 |
TBX4 |
Intron |
17 |
60019137 |
0.06 |
0.14 |
0.15 |
0.22 |
hCV2648887 |
GAACTGCTCTCTCCTCCTCAGCATTCTCTCCTCTGAACCT[C/T]ACACTCCTACCCTTGAAGTACTAATTTGACAATGTGGTGG |
A |
A |
C____329893_1_ |
|
|
T-box
4 |
TBX4 |
Intron |
17 |
60019284 |
0.3 |
0.37 |
0.41 |
0.33 |
hCV329893 |
TCACCAGCCCCTGGAGTAATCACCTGCTCTTATCTGCTCT[A/G]TTGGCAGGATGGTGGCAGGGAAGGCTGAGCCAGCCATGCC |
T |
T |
C___2547508_10 |
|
|
|
|
|
17 |
60139838 |
|
|
0.4 |
0.34 |
hCV2547508 |
TGAGACACTGCTGAAAAAATGGGCACAAAAAGAATTACAG[C/T]GGTAGAGTTGGGATCTAAAAATGTACCATTTTTGCATATG |
A |
A |
C___2547501_10 |
rs728368 |
|
|
|
|
17 |
60149802 |
0.39 |
0.34 |
0.09 |
0.16 |
hCV2547501 |
CTGATCAAATATATTAGCTGAATTAGATTTAATCCATTGC[T/C]CAACACCAGCTCCTTCCATAGCATTAGACAAATGGTCTAA |
G |
G |
C___2547500_10 |
rs728367 |
|
|
|
|
17 |
60149906 |
0.45 |
0.39 |
0.33 |
0.28 |
hCV2547500 |
TAATTAGAGATTATTCTCTTGGGTTCTGTGATGAAATACT[A/G]AACTCCTGCTTTTGTTGCCTCTACCCAAGGGCTTAGGGCT |
T |
T |
C__11886366_10 |
|
|
BRCA1
interacting protein C-terminal helicase 1 |
BRIP1 |
Silent
Mutation |
17 |
60235417 |
|
|
0.26 |
0.19 |
hCV11886366 |
CAGCTAGGTCATTTTTTTCTTCATCTGTATCTTCAGGATC[G/A]TAAAGTTCAGGTGTAAAATAGATAGATTCATCTTCTGCTT |
T |
T |
C___2649930_10 |
|
|
BRCA1
interacting protein C-terminal helicase 1 |
BRIP1 |
Intron |
17 |
60275208 |
0.26 |
0.4 |
0.22 |
0.35 |
hCV2649930 |
GCACCACCAGCAAAAGGCCCAAGGCAAGCTCTGCCATCTT[C/G]TAACTGTCAAAGAGATTAGTCTTTGATCTATTTGGGAGGT |
C |
C |
C___2649897_10 |
|
|
BRCA1
interacting protein C-terminal helicase 1 |
BRIP1 |
Intron |
17 |
60326454 |
0.37 |
0.27 |
0.49 |
0.4 |
hCV2649897 |
ACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTC[A/G]CAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCG |
C |
T |
C___2649882_10 |
rs2191248 |
|
BRCA1
interacting protein C-terminal helicase 1 |
BRIP1 |
Intron |
17 |
60350773 |
0.33 |
0.1 |
0.1 |
0.13 |
hCV2649882 |
CTTGTTTTTAAAGCTTAACTGGCAAGGAACAATTCATTTC[C/T]CAAGAAGCCTAGTTAACCAAAGTTTACTAACTTTAAATAC |
A |
A |
C___2649869_10 |
|
|
BRCA1
interacting protein C-terminal helicase 1 |
BRIP1 |
Intron |
17 |
60367652 |
0.24 |
0.15 |
0.19 |
0.28 |
hCV2649869 |
TAGAATTATACTACAAACTTTGAGACATAAAAAAGGGTTT[T/G]TTAATCTTTATCAACCATTTGCTGTTGTCCAAGCCATCTA |
A |
A |
C__25640659_10 |
|
|
BRCA1
interacting protein C-terminal helicase 1 |
BRIP1 |
Intron |
17 |
60399033 |
0.11 |
0.03 |
0.47 |
0.48 |
hCV25640659 |
GTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAA[C/G]GTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCC |
C |
G |
C___1319011_1_ |
rs2271576 |
|
KIAA1287
protein |
KIAA1287 |
Intron |
17 |
60441808 |
|
|
0.47 |
0.47 |
hCV1319011 |
CAGCATTGCTGCTCCTAACTCAGGTAAAACAGGAGAAATG[C/T]TGCTGTGTGTGTATTAAACTCAAAAAAACAACATGAAATC |
A |
G |
C__25613629_10 |
|
|
KIAA1287
protein |
KIAA1287 |
Intron |
17 |
60473811 |
0.08 |
0.07 |
0.47 |
0.49 |
hCV25613629 |
ACACACAGCAGTCATGTTAATTATTATTCAGATATAGCAG[C/T]ATCAATCTCAAGAACTGATTTCTATCTAAATATTTGGAGA |
A |
G |
C___8730872_10 |
|
|
thyroid
hormone receptor-associated protein, 240 kDa subunit |
TRAP240 |
|
17 |
60496015 |
|
|
0.04 |
0.07 |
hCV8730872 |
ACCTGTCAGGGAATAATTTTAAATCTACTTTCAAATTGAG[A/G]TGTGGTTATCATAGGTTAGTGATTTTAAACAACTGAGAAT |
T |
T |
C__15966424_10 |
rs2278812 |
IMS-JST026272 |
thyroid
hormone receptor-associated protein, 240 kDa subunit |
TRAP240 |
Silent
Mutation |
17 |
60514750 |
0.11 |
0.3 |
0.49 |
0.41 |
hCV15966424 |
AATCACCATCTGTGGGGATTCCCACTTTATCCCGATCCAT[C/T]GTGCTAAAATTTAAGGTAGAAATGAGACAAAAAGTTGTAC |
A |
A |
C____289130_10 |
|
|
thyroid
hormone receptor-associated protein, 240 kDa subunit |
TRAP240 |
Intron |
17 |
60604296 |
0.12 |
0.07 |
0.49 |
0.41 |
hCV289130 |
CTGTTAAGACACAAAAAGGAACAAATCTAAAGAAATATCA[C/T]GTCAGAATTTAAGATAGCTTACCTTTTATTTATAGGTTTT |
A |
A |
C__11621187_10 |
|
|
thyroid
hormone receptor-associated protein, 240 kDa subunit |
TRAP240 |
Intron |
17 |
60610589 |
0.13 |
0.07 |
0.49 |
0.41 |
hCV11621187 |
TCCAAAAATCATCCAGCCTTTGCAAATTACTTTGCTCAAC[G/A]GTATTGACTTACTGCTACAAAATGAGTAACTGAGGGTTTA |
T |
T |
C___8731142_10 |
|
|
hypothetical
protein FLJ25818 |
FLJ25818 |
|
17 |
60935021 |
0.13 |
0.45 |
0.46 |
0.44 |
hCV8731142 |
TGTCTTTAAAAAGACACTCTTGGCACAATTTCAGACCTTA[T/A]CTTGGATCAAACATTGGAGAAAGACTTTATTTTTCAAAGT |
A |
T |
C__15879141_10 |
rs2288557 |
|
hypoxia-inducible
protein 2 |
HIG2 |
|
17 |
60975042 |
|
|
0.3 |
0.28 |
hCV15879141 |
CGCTGGCTGTTGATACCAATGAGAGCCCATTTAAGCGCAC[T/C]TTGTTTCTCCTGGCACACCCGCTGGATACTGTTCTCCTGG |
A |
A |
C__15801331_10 |
rs2460293 |
|
tousled-like
kinase 2 |
TLK2 |
|
17 |
61167339 |
0.39 |
0.38 |
0.1 |
0.17 |
hCV15801331 |
AGCCGACAGCGTTGGAGTTTTTTCCTAGTGTAGAAAATAA[C/T]AGTCCTGTCTTCCAAGTGGGTGAGTTCAGAAGAGGCCTCA |
G |
G |
C_____66097_10 |
rs2465411 |
|
mannose
receptor, C type 2 |
MRC2 |
Intron |
17 |
61182648 |
0.48 |
0.23 |
0.11 |
0.2 |
hCV66097 |
CCCCCACTGGAGACACGGTGGGGAGGTCTCAAATAAAGAA[C/T]AGGCCATGGCCATCTCTACTTCAGTTCTGCAGGAGCTCAG |
A |
A |
C___2598031_10 |
rs2429403 |
|
mannose
receptor, C type 2 |
MRC2 |
Intron |
17 |
61183409 |
0.4 |
0.18 |
0.11 |
0.17 |
hCV2598031 |
CCCCAGGTCAGCCCAAGAGGCAGGGACCAGGCTCCCTCAG[T/C]GTCCTCCCCAGGATCCTTGAGTCTCGAAGGAAGGGTCACT |
G |
G |
C___2598011_10 |
rs2460299 |
|
mannose
receptor, C type 2 |
MRC2 |
Intron |
17 |
61199111 |
0.42 |
0.38 |
0.13 |
0.15 |
hCV2598011 |
ACACCCCTTGGCCTGGCAGACACTGGGACGGGAGGAGTTG[G/A]CCTGGGACCCTCACCAGGACCCTTGCGCAGTCACGCAACC |
T |
T |
C____327850_10 |
rs2460301 |
|
mannose
receptor, C type 2 |
MRC2 |
Intron |
17 |
61209137 |
0.4 |
0.38 |
0.11 |
0.16 |
hCV327850 |
AGGCCTCAGTTTCCTCCTTTGTCACATGAGGCACAGCTTC[G/A]AGGCCCCTCCTCCCTCTGACATCCTAGGCTCTGGGTTCAA |
T |
T |
C__15796948_10 |
rs2429388 |
|
mannose
receptor, C type 2 |
MRC2 |
Intron |
17 |
61237402 |
0.02 |
0.37 |
0.09 |
0.06 |
hCV15796948 |
ATTCAGCTCAGTCCAGCCGACACTGAGGGCATCCCTGCCA[C/T]GTGCAAGTGTATTAAGGGGTATGGCAGGTGCTAGTGGCCC |
A |
A |
C__15796930_10 |
rs2251393 |
|
mannose
receptor, C type 2|hypothetical protein FLJ35757 |
MRC2|FLJ35757 |
|
17 |
61252303 |
0.16 |
0.29 |
0.06 |
0.12 |
hCV15796930 |
TGAAACTGAAACCAAAGCGTTCACAGTTAGATTTTCACCT[C/T]GTGCCACTCTCTTTTGGGGTCTGGCTTGAGCATCTATGGG |
G |
G |
C____303136_10 |
|
|
hypothetical
protein FLJ35757 |
FLJ35757 |
|
17 |
61274559 |
0.32 |
0.34 |
0.16 |
0.15 |
hCV303136 |
TGATCAAGATGCTTAAACGCATATCCATATAACGAGCAAA[G/A]TATTCAGTCCTTCAGAGAGGGAAGAAAACGAGTAGATTTT |
C |
C |
C____328362_10 |
|
|
hypothetical
protein FLJ35757 |
FLJ35757 |
Mis-sense
Mutation |
17 |
61287644 |
0.4 |
0.29 |
0.11 |
0.19 |
hCV328362 |
CGCTCACCCTGTTCTCCTTCCCATCACAAAAGAAGTAGAT[C/T]TGGGGGGACATCGACCCCTCAGGCCAAAAATAAAAATTTT |
G |
G |
C___2957293_10 |
rs1985394 |
|
hypothetical
protein FLJ35757 |
FLJ35757 |
Intron |
17 |
61298505 |
0.43 |
0.33 |
0.12 |
0.33 |
hCV2957293 |
AAAAGAAGGATTGAGGGAGAGAATCAACAAGAACTACACC[G/A]GAATGAAGGCTATTGAATAAGTTATTGCCAACCTGTGAAG |
C |
C |
C__11878131_1_ |
rs2286566 |
IMS-JST037147 |
hypothetical
protein FLJ35757 |
FLJ35757 |
Intron |
17 |
61301210 |
0.46 |
0.35 |
0.13 |
0.24 |
hCV11878131 |
CCCTGTTCTGTGTTGAATACACCCCTTACTGCTCCGTCTT[T/C]GCTTTCTCCCCTGTCCTGCAGCCCAATACCAATTACTGCT |
A |
A |
C__11890114_10 |
|
|
putative
ankyrin-repeat containing protein |
DKFZP564D166 |
|
17 |
61716268 |
|
|
0.18 |
0.3 |
hCV11890114 |
TCTAGGAAGAAGTAATCCACTGCAGTGTAGCAGTACAGAC[C/T]GGGTAATGGGAAAGACCTACAGACCGTTATAAGAAGGGCA |
A |
A |
C__15795552_10 |
rs2447447 |
|
putative
ankyrin-repeat containing protein |
DKFZP564D166 |
|
17 |
61874180 |
0.47 |
0.18 |
0.16 |
0.31 |
hCV15795552 |
CCCTGTCCCTCTACTGTGATTATGCTTTAGAAGAAATATG[C/T]AATGTTAAGTGGAGACACGCTCGAGAGATGCCAACCTATC |
G |
G |
C____349233_10 |
|
|
putative
ankyrin-repeat containing protein |
DKFZP564D166 |
Intron |
17 |
61906145 |
0.47 |
0.18 |
0.16 |
0.3 |
hCV349233 |
TCACACTCCATGCAATAAACAGAAAACAGACTCAGAATTG[C/T]TTATCACAGATATATGTCTTACCTCGGATCACAGAGAAAT |
G |
G |
C___7594595_10 |
rs1029765 |
|
putative
ankyrin-repeat containing protein |
DKFZP564D166 |
Intron |
17 |
61932655 |
0.2 |
0.32 |
0.1 |
0.18 |
hCV7594595 |
TTTCTTAAAGAGAATTTTATGTTCGAATAGCTTGAAAAAG[C/T]GCCTCTTCAGTATCTGTAACTATTGCTCAGGTAAGGGATC |
G |
G |
C__11890191_10 |
|
|
putative
ankyrin-repeat containing protein |
DKFZP564D166 |
Intron |
17 |
61961679 |
0.45 |
0.21 |
0.16 |
0.3 |
hCV11890191 |
CTTAAGTATGCTTAACATAAGTCAACTTATTCCATTATTT[C/A]TTTTTATGTATACTATTTGCATGTAATAAATTCTCAATGA |
T |
T |
C___7594587_10 |
|
|
cytochrome
b-561|putative ankyrin-repeat containing protein |
CYB561|DKFZP564D166 |
Intron |
17 |
61987426 |
0.2 |
0.16 |
0.09 |
0.16 |
hCV7594587 |
AGATCAGGCTGGGATCACAAGGTTCTGCTTGGGAGCCAGG[T/C]GCCTGCTTGCTAGGAGTAGGACCATCTGCCCAGGCTTAGG |
A |
A |
C__16180081_10 |
rs2286572 |
|
cytochrome
b-561|putative ankyrin-repeat containing protein |
CYB561|DKFZP564D166 |
Intron |
17 |
61991613 |
0.19 |
0.07 |
0.04 |
0.1 |
hCV16180081 |
|
#N/A |
#N/A |
C__11942504_10 |
rs2058203 |
|
cytochrome
b-561 |
CYB561 |
Intron |
17 |
61996375 |
0.4 |
0.37 |
0.12 |
0.24 |
hCV11942504 |
GGTGGGTCAGGCCGGTGCCAACTGCGCTGAGGGCGGAGCT[G/C]CCGCCACCTTGACACCTGGGAGATGGCAGGGCCACCCTCC |
G |
G |
C___1247701_10 |
rs4293 |
|
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1 |
ACE |
|
17 |
62029037 |
0.48 |
0.27 |
0.33 |
0.4 |
hCV1247701 |
GGGAGAAGTGTATTTGAATTTGGCTTCCTACTCCAGAATG[T/C]TTCCTTTAACAGAAAGTAACTCCCCACCCCATCTCCAAGA |
G |
G |
C____589777_1_ |
rs4295 |
IMS-JST008779 |
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1 |
ACE |
|
17 |
62029669 |
0.42 |
0.39 |
0.29 |
0.39 |
hCV589777 |
GTGACCAGCCCCTGGGACATCTGCCCTCCCCTCGCTGCTA[G/C]AAGGAGGAGCCCACAGAGTGGATGTAGCTTGGACAAGGCC |
C |
C |
C___1247707_1_ |
rs4311 |
IMS-JST003562 |
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1 |
ACE |
|
17 |
62034134 |
0.45 |
0.3 |
0.29 |
0.38 |
hCV1247707 |
AATTGTCTTAGGGCCTAGAGGTTGCAAACAGATGGATTTA[A/G]CTTTTGTAGAAAAGGCATTTCCACCCGGCAACCCTTCCCC |
T |
T |
C___1247713_1_ |
rs4329 |
IMS-JST014948 |
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1 |
ACE |
|
17 |
62036829 |
0.44 |
0.43 |
0.31 |
0.38 |
hCV1247713 |
ACAGTGTGTGGCTCAGTGGCATAATTTGTGCTCAGCCAAA[C/T]AGGCAGGGAATGAGGGTAAAGAGGAAGTGTAGCCCCTTTT |
A |
A |
C____589818_10 |
rs4353 |
|
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1 |
ACE |
|
17 |
62043793 |
0.45 |
0.41 |
0.39 |
0.42 |
hCV589818 |
GCCAGTGGGTTCCCATGTACACATGCTTTATCTCCCAAGA[T/C]GGAGGCTCCCTGAAGGAAACAACTGTTTCTGTCAGGGGTG |
A |
A |
C___1247717_1_ |
rs4978 |
IMS-JST014950 |
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1 |
ACE |
|
17 |
62047132 |
0.48 |
0.45 |
0.39 |
0.43 |
hCV1247717 |
ACAGTGCCTCGTGGAACTGGAACTGGATGATGAAGCTGAC[G/A]AAGTACCTGGAGCAGAGCGAGGCCGTGGCCCGGGGCGGAG |
T |
T |
C___1247726_10 |
|
|
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1 |
ACE |
|
17 |
62050586 |
0.46 |
0.26 |
0.45 |
0.4 |
hCV1247726 |
CCCCTCTTCCTGCTGTTACCGCCTCCTCTTCCTCTGCTAC[T/C]TTCCAGGTATCCCCTGCCTCTCCCCACTCACCCAAGGAGG |
G |
G |
C___1247728_10 |
|
|
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1 |
ACE |
|
17 |
62050680 |
0.48 |
0.14 |
0.44 |
0.4 |
hCV1247728 |
TAGGTGAGAGCTGGTCTCCCAAGAGCGGCATTGGCAGGCA[T/C]GGCACGGGGATGGGCTCAGCCTTCAGGGCCACCAGTAGAA |
A |
A |
C___1247681_10 |
|
|
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1 |
ACE |
|
17 |
62057127 |
0.37 |
0.26 |
0.31 |
0.17 |
hCV1247681 |
GGTTGATTGCACAGCCCATAAGAGAGAAAAAGCCCAAACA[C/T]GTGAACATAAGAGGTCAAGTTAGAAGAACCTAGAGAGATA |
T |
T |
C___1247691_10 |
|
|
angiotensin
I converting enzyme (peptidyl-dipeptidase A) 1|potassium voltage-gated
channel, subfamily H (eag-related), member 6 |
ACE|KCNH6 |
|
17 |
62081784 |
|
|
0.28 |
0.16 |
hCV1247691 |
TGTGAACACAGGATCCTCCTGCATGCCAGGCAGGGCAGGA[C/T]GAGGCTGGCACCTCCAGCTATCTTTAATCAGCTTCCTGGG |
C |
C |
C___1247698_10 |
|
|
potassium
voltage-gated channel, subfamily H (eag-related), member 6 |
KCNH6 |
|
17 |
62090330 |
0.29 |
0.11 |
0.31 |
0.25 |
hCV1247698 |
GAAATCACCTTTCCTCAAAACCAGCTGCTTCAGCATCCCC[A/G]TCACTGTGAAGCATCTGCCTATTGCCCACGCCACAGTCTG |
G |
G |
C___7951896_10 |
|
|
WD-repeat
protein|potassium voltage-gated channel, subfamily H (eag-related), member 6 |
HAN11|KCNH6 |
|
17 |
62096074 |
0.35 |
0.21 |
0.31 |
0.3 |
hCV7951896 |
GCAGCTGCATGCCTTCCCTACCCTGACTTGTTCACAGTGC[A/G]GCATCAGGCCCAGAGCCTCTGTGGCCCCAGAGCAGCCAGG |
G |
G |
C___1589225_10 |
|
|
mitogen-activated
protein kinase kinase kinase 3 |
MAP3K3 |
Intron |
17 |
62203253 |
0.34 |
0.1 |
0.04 |
0.06 |
hCV1589225 |
ATAATTCTGAAAAGAAACAGAAAGAAAGGTTGGTTAATTG[C/T]ATACTTAAAACGTAGGGTTTAAAAAGCAATGGTCTGAGTA |
G |
G |
C___1322920_10 |
|
|
mitogen-activated
protein kinase kinase kinase 3 |
MAP3K3 |
Intron |
17 |
62209236 |
0.35 |
0.32 |
0.04 |
0.06 |
hCV1322920 |
TGGAAGACAGATACAGATTGCAAGCATTCTTGTGAAATGC[A/G]GGCCTCCAGGAATCCTTCAGGAGAGGAAACTGTGCATAAG |
T |
T |
C___1322936_1_ |
rs1043127 |
IMS-JST045175 |
protein
kinase LYK5|hypothetical protein FLJ90524 |
LYK5|FLJ90524 |
Intron |
17 |
62264581 |
0.39 |
0.13 |
0.46 |
0.33 |
hCV1322936 |
TGGGCACAGACTTGCTTCTGTGGGTCTTCTCTGTTTTTTT[A/C]TGCCAAGTATGGGAAGAGATCAAACTTCCAGGAAAGAAGC |
T |
T |
C___1322943_10 |
rs1470697 |
|
protein
kinase LYK5|hypothetical protein FLJ90524 |
LYK5|FLJ90524 |
Intron |
17 |
62273211 |
0.35 |
0.12 |
0.44 |
0.32 |
hCV1322943 |
AGGAGCACCTCTCTATCAGATCCAAATGCTTTCCAATCTG[G/A]AGACCAAAAACGTTCCCTATAGGCTCAGTTAGCTATTTTT |
T |
T |
C___1322956_10 |
|
|
GK001
protein|protein kinase LYK5|hypothetical protein FLJ90524 |
GK001|LYK5|FLJ90524 |
Intron |
17 |
62289961 |
0.36 |
0.13 |
0.46 |
0.33 |
hCV1322956 |
ATCAAAGAAAATACCTGTGTGCAGTTATTAAAATAATTGT[A/G]TAGGGGGCTATAAAGAAAAATACCAGTCTCATCTCTATCT |
T |
T |
C___1322960_10 |
|
|
GK001
protein|protein kinase LYK5|hypothetical protein FLJ90524 |
GK001|LYK5|FLJ90524 |
UTR
3 |
17 |
62297043 |
0.35 |
0.48 |
0.04 |
0.06 |
hCV1322960 |
TGTAGTAATGAAATTTCAGGGACCCAGAACATAATGTAGT[G/A]TATGTTTTTAGGTGGGAGATGCTGATAACAAAATTAATAG |
C |
C |
C___1322970_10 |
rs3785572 |
|
GK001
protein |
GK001 |
Intron |
17 |
62303360 |
0.38 |
0.14 |
0.46 |
0.32 |
hCV1322970 |
CTAAATGATAGCTTTAAAACTACGTCAAAACTATAAGCCT[A/G]TGCTTGCTTACTGATTTCCAGATTTCTTCAAGAAGAAATT |
C |
C |
C__11888111_10 |
|
|
GK001
protein|DEAD (Asp-Glu-Ala-Asp) box polypeptide 42|RNA helicase-related
protein |
GK001|DDX42|RNAHP |
Intron |
17 |
62323672 |
|
|
0.03 |
0.06 |
hCV11888111 |
TTTCCTCAAGTCTAGACTCAGTCGCTGAGGAACTATTGGA[C/T]GAGCTTGCAGAAAATAATCAAACCAGACTTGTTAGCGCTT |
G |
G |
C___1322996_10 |
rs896064 |
|
GK001
protein|DEAD (Asp-Glu-Ala-Asp) box polypeptide 42|RNA helicase-related
protein |
GK001|DDX42|RNAHP |
|
17 |
62334303 |
0.38 |
0.11 |
0.46 |
0.36 |
hCV1322996 |
CGGAATCCCATAAGGGGATTCCTTCAATCAAGGAATCAAC[G/A]TAATTCCAGTGTGATGAAATTTAGTAAGAATCTTTACAAG |
C |
C |
C___1323000_10 |
|
|
DEAD
(Asp-Glu-Ala-Asp) box polypeptide 42|RNA helicase-related protein |
DDX42|RNAHP |
|
17 |
62342930 |
|
|
0.04 |
0.06 |
hCV1323000 |
ACATGCAAAATTTCAATATTACAAAAAAGTAATCACAAGA[G/C]ATTCTCCATTTCAATAGTGTATAGTCAAATCATGCTCCCA |
G |
G |
C___1323008_10 |
|
|
DEAD
(Asp-Glu-Ala-Asp) box polypeptide 42|RNA helicase-related protein |
DDX42|RNAHP |
Intron |
17 |
62356394 |
0.34 |
0.3 |
0.05 |
0.06 |
hCV1323008 |
GTGTGTTTCATTTACCATCTATCAGCACCTTAAACCAATG[C/T]AGCCAATGTGCAGCCCAAAACTTTCTGGTAGGCAGTTTAA |
G |
G |
C__15881976_10 |
rs2251164 |
|
DEAD
(Asp-Glu-Ala-Asp) box polypeptide 42|RNA helicase-related protein |
DDX42|RNAHP |
Intron |
17 |
62357491 |
|
|
0.46 |
0.34 |
hCV15881976 |
|
#N/A |
#N/A |
C___1551961_10 |
|
|
FtsJ
homolog 3 (E. coli)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 42|RNA
helicase-related protein |
FTSJ3|DDX42|RNAHP |
UTR
3 |
17 |
62369498 |
0.38 |
0.13 |
0.46 |
0.36 |
hCV1551961 |
|
#N/A |
#N/A |
C___7952904_10 |
rs894407 |
|
FtsJ
homolog 3 (E. coli)|SWI/SNF related, matrix associated, actin dependent
regulator of chromatin, subfamily d, member 2|DEAD (Asp-Glu-Ala-Asp) box
polypeptide 42|RNA helicase-related protein |
FTSJ3|SMARCD2|DDX42|RNAHP |
Intron |
17 |
62375012 |
0.39 |
0.13 |
0.46 |
0.34 |
hCV7952904 |
GAACGCAGCGAGGCAGGTGTGGACCGGGTGTCCAGGGGAA[A/G]AGTCTGGGAAAATAACCCAACTCTTGGGACTGTTTTGCCA |
T |
T |
C___7952902_10 |
|
|
FtsJ
homolog 3 (E. coli)|SWI/SNF related, matrix associated, actin dependent
regulator of chromatin, subfamily d, member 2|DEAD (Asp-Glu-Ala-Asp) box
polypeptide 42|RNA helicase-related protein |
FTSJ3|SMARCD2|DDX42|RNAHP |
Intron |
17 |
62376193 |
0.39 |
0.13 |
0.45 |
0.34 |
hCV7952902 |
TGGTGGAGGTGGGCGCATGCCCTCCTGGGCTGCAGAGTGC[C/G]TCAACTAATTGTCTCTATCCTACAGCCCATTTGACACTGA |
C |
C |
C__11888141_1_ |
|
|
FtsJ
homolog 3 (E. coli)|SWI/SNF related, matrix associated, actin dependent
regulator of chromatin, subfamily d, member 2|DEAD (Asp-Glu-Ala-Asp) box
polypeptide 42|RNA helicase-related protein |
FTSJ3|SMARCD2|DDX42|RNAHP |
|
17 |
62377917 |
0.38 |
0.14 |
0.46 |
0.34 |
hCV11888141 |
AGTCTCAACTTTCAACTTACAAAACCCAAGGACAGAGTAT[C/T]GAGAACAATCTAGGGCCACACTCAAAATGGCGGAAAACCT |
A |
A |
C___7952841_10 |
rs2727330 |
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
d, member 2 |
SMARCD2 |
|
17 |
62398869 |
0.37 |
0.14 |
0.46 |
0.33 |
hCV7952841 |
GAATACTTTTATCTTAGCAGTTGTCATGTGGGGAAATGAC[C/T]TGTTTATGCATTTATCTTCTTTACCAGCATATGTCAGGGA |
G |
G |
C___2532454_1_ |
rs2236737 |
IMS-JST017152 |
|
|
|
17 |
62411471 |
0.4 |
0.14 |
0.46 |
0.36 |
hCV2532454 |
GTGATGTTAATACATGCCCTGAGCAGGTCACATTAATGTC[A/G]GTCCCTGCCAATGGGTATGATTCTTTTAGCTCCAGGATTG |
C |
C |
C___2955804_10 |
|
|
CD79B
antigen (immunoglobulin-associated beta)|chorionic somatomammotropin
hormone-like 1|chorionic somatomammotropin hormone 1 (placental
lactogen)|chorionic somatomammotropin hormone 2|growth hormone 1|growth
hormone 2 |
CD79B|CSHL1|CSH1|CSH2|GH1|GH2 |
|
17 |
62479016 |
0.39 |
0.16 |
0.44 |
0.39 |
hCV2955804 |
ACTGGCCTTGGTTCTCCAGGCAAACTGGAAGCTCCCTGAG[C/G]GTAGGGGTTTCCCTGCCTCTACAACACTCCCACCCCCACC |
C |
C |
C__11627303_1_ |
rs2286565 |
IMS-JST037145 |
CD79B
antigen (immunoglobulin-associated beta)|sodium channel, voltage-gated, type
IV, alpha |
CD79B|SCN4A |
|
17 |
62483603 |
0.39 |
0.39 |
0.45 |
0.39 |
hCV11627303 |
ACCTGACCTGCTCTTGCTCCAGAACCTCTGTGGCTCCCAT[C/A]CTCCACAGGGTCAACTTCCAACATGGCTGCCTGCACTCCA |
A |
A |
C___2968012_10 |
|
|
sodium
channel, voltage-gated, type IV, alpha |
SCN4A |
Intron |
17 |
62494745 |
0.34 |
0.14 |
0.44 |
0.39 |
hCV2968012 |
ATTGATCCCCACTCCCCTTCCCTCCCTTCTCCTCGGTCCC[A/G]CATTCTCCCCTTGTCCCTCCATCTCTGACCCTCCCGCTTC |
A |
A |
C__15757352_10 |
rs2302237 |
IMS-JST058542 |
sodium
channel, voltage-gated, type IV, alpha |
SCN4A |
Intron |
17 |
62522078 |
0.38 |
0.12 |
0.31 |
0.31 |
hCV15757352 |
GCCCTGCCCCCCAGACCCTGTGGTACCCCCAATTTCTTGG[A/G]AATCCTCATCCCAGGCCTGGAGGAGCCCTGATTTCTGTCC |
A |
A |
C__11420047_10 |
rs2041277 |
|
sodium
channel, voltage-gated, type IV, alpha |
SCN4A |
|
17 |
62529740 |
0.13 |
0.17 |
0.2 |
0.22 |
hCV11420047 |
CCCTCTTGAGGGCAGGCCTCACCTTCTCCTTGTGTCTCGG[A/C]CACCGTGTGCCACGTCCACCTCCCCCAGGACTGTCAGCTG |
A |
A |
C____570531_10 |
rs735621 |
|
|
|
|
17 |
62534089 |
0.36 |
0.5 |
0.27 |
0.32 |
hCV570531 |
ATGGATTTTTCACTCCTGGAGCTGGGCCATAGCAGGAACA[C/T]AGGAATTTGGGAAGTGGGCCACCCGGATGCCCGGTGCTGT |
T |
T |
C____334228_10 |
|
|
intercellular
adhesion molecule 2 |
ICAM2 |
|
17 |
62546008 |
0.41 |
0.26 |
0.24 |
0.3 |
hCV334228 |
TGGCCGTAGAAAACAGTCAGGAGGAGGTGATCATTCCAAT[G/C]CCTCAGAGGTAAAAGGGCATGTTAACCGCTTGTGTTTTGA |
C |
C |
C___2597625_10 |
rs3764868 |
|
intercellular
adhesion molecule 2 |
ICAM2 |
Intron |
17 |
62554085 |
0.35 |
0.06 |
0.22 |
0.32 |
hCV2597625 |
|
#N/A |
#N/A |
C___3018948_10 |
|
|
intercellular
adhesion molecule 2 |
ICAM2 |
|
17 |
62571217 |
0.34 |
0.14 |
0.39 |
0.42 |
hCV3018948 |
AGGGGTAAGGTTGAGCTTCTCACTTTCCCTCCAATGAAGC[A/G]TGGCAGCATGGGAAGGATTTTGGCAGTGTCGAGGTCTGAG |
A |
A |
C__11415765_10 |
rs1985961 |
|
hypothetical
protein FLJ30999|ER to nucleus signalling 1 |
FLJ30999|ERN1 |
|
17 |
62590633 |
0.44 |
0.13 |
0.47 |
0.48 |
hCV11415765 |
TCTGATTTTTTGTACCGGCGCTTAAATTCTTTCTGTAGAC[A/G]TTGGAAAGCCACAAAGAACGTGACTGCAGTGAGCCTCCCA |
A |
G |
C_____13771_1_ |
|
|
hypothetical
protein FLJ30999|ER to nucleus signalling 1 |
FLJ30999|ERN1 |
|
17 |
62592926 |
0.23 |
0.41 |
0.32 |
0.31 |
hCV13771 |
CTAAGCAAGGCTGTGCGTTGTTCAGAAACGTGGCCAGACC[A/G]CATTTCCTGCTGCTCCCATGCCGCATGCCAGGTGGCCTGA |
G |
G |
C____641035_10 |
rs196929 |
|
hypothetical
protein FLJ30999|ER to nucleus signalling 1 |
FLJ30999|ERN1 |
Intron |
17 |
62604308 |
0.34 |
0.46 |
0.35 |
0.31 |
hCV641035 |
TATCATTTGGATTCCTTTGTAGGTTTACTTATATGAGGCA[A/G]TGAACTTGAGTTTCTTGCCTTCTTATCTTTCTCATTGTAA |
A |
A |
C__25628665_10 |
|
|
hypothetical
protein FLJ30999|ER to nucleus signalling 1 |
FLJ30999|ERN1 |
Intron |
17 |
62617715 |
0.19 |
0.15 |
0.31 |
0.33 |
hCV25628665 |
TAACTGAGTGACTAGAGCCTGCCACAAGAGTAGAGGATGT[T/G]GTTGCAAGATGGGGTGAGACTCAGCATGCTTTGTTTATTT |
T |
T |
C__15957795_10 |
rs2270524 |
|
hypothetical
protein FLJ30999|ER to nucleus signalling 1 |
FLJ30999|ERN1 |
Intron |
17 |
62648331 |
|
|
0.31 |
0.23 |
hCV15957795 |
|
#N/A |
#N/A |
C__11415821_10 |
rs1874087 |
|
hypothetical
protein FLJ30999|ER to nucleus signalling 1 |
FLJ30999|ERN1 |
Intron |
17 |
62659135 |
0.45 |
0.15 |
0.42 |
0.34 |
hCV11415821 |
GGGAAAACGATTTCATGTAGCACCATTCATGTCCAGATAT[A/G]TTTCTTCTTCCAATGATGGCAATGTAAGTTGATGGCAGAG |
A |
A |
C____260502_10 |
|
|
uncharacterized
hypothalamus protein HT008 |
HT008 |
Intron |
17 |
62706363 |
0.38 |
0.3 |
0.16 |
0.22 |
hCV260502 |
GAATGGTCTTTAGACATGTATTTTTCCGGAAAATTTCCTG[A/G]GTTCTCATGTCAGTTGCTTCCTAGAGTCTCCTGAGACTTT |
G |
G |
C__11622167_10 |
|
|
uncharacterized
hypothalamus protein HT008 |
HT008 |
Intron |
17 |
62714582 |
0.38 |
0.36 |
0.16 |
0.2 |
hCV11622167 |
TAACCATTTGTCAAGACTACAAAAGAAAGGGCCCTGTAAC[C/T]GCATTCCTCTAGATTAAGTAGCATTTAGCTGGGTTACAGT |
C |
C |
C____297092_10 |
rs1976909 |
|
uncharacterized
hypothalamus protein HT008 |
HT008 |
Intron |
17 |
62719579 |
0.38 |
0.29 |
0.15 |
0.2 |
hCV297092 |
TTCACTGCATAGCTAGCTAGCATCTTCACTCCATCAGTGT[A/G]CAGCTGCTACCTTTCTTCCTCTAACTCAGGTGGCCTCTCT |
A |
A |
C___8731189_10 |
|
|
uncharacterized
hypothalamus protein HT008 |
HT008 |
Intron |
17 |
62743682 |
0.34 |
0.38 |
0.13 |
0.2 |
hCV8731189 |
AAACTGGCACGTATGAGTCAGGTGTTCACAAATTGCCATG[A/C]TAAAATGAGTGTGGTGTAACAAATAATTGGGACAAGACCA |
C |
C |
C__11412868_10 |
rs1867625 |
|
|
|
|
17 |
62860582 |
0.23 |
0.2 |
0.17 |
0.24 |
hCV11412868 |
ACTCAGAGCCAAATTCTGCCCCCATTAGAGTAATTAACTA[T/C]GATCTAGTGCCTGTTAGGCTGACTCCCTCTTCCTTTAGAT |
T |
T |
C____481442_10 |
rs1122800 |
|
platelet/endothelial
cell adhesion molecule (CD31 antigen) |
PECAM1 |
|
17 |
62864736 |
0.43 |
0.3 |
0.23 |
0.27 |
hCV481442 |
TCAGGGAAATGGCTGATGCCTGGGGCACCCAGGAAGGCTA[C/G]ACTACAGGCCCTGGGTACCCAGATAGGCTGGACCCCAGGC |
G |
G |
C__11614607_1_ |
rs2070784 |
IMS-JST005778 |
platelet/endothelial
cell adhesion molecule (CD31 antigen) |
PECAM1 |
Intron |
17 |
62880065 |
0.42 |
0.5 |
0.25 |
0.26 |
hCV11614607 |
AGGAGTGGAGCAGCTGACAGCTCATTGCAATTTAGCCGAT[A/T]CTAATTACCCCCTACACACCAGGCCATCAGCTGCAGGAGA |
T |
T |
C___1841898_1_ |
rs12953 |
IMS-JST005775 |
platelet/endothelial
cell adhesion molecule (CD31 antigen) |
PECAM1 |
Mis-sense
Mutation |
17 |
62906936 |
0.39 |
0.14 |
0.38 |
0.47 |
hCV1841898 |
TCAAATGCCACCCAGGCATTTTGGACCAAGCAGAAGGCTA[A/G]CAAGGAACAGGAGGGAGAGTATTACTGCACAGCCTTCAAC |
G |
A |
C_____61293_10 |
|
|
platelet/endothelial
cell adhesion molecule (CD31 antigen) |
PECAM1 |
Intron |
17 |
62930163 |
0.4 |
0.41 |
0.38 |
0.47 |
hCV61293 |
AGGGAGGGCTTTTATAAAAATCAAATGAACTAGGACTGGT[T/C]AGTGGGAGGCTCACGCAAGGGTTGTGCTGAGGCTGGAAGG |
C |
C |
C__11616543_10 |
|
|
platelet/endothelial
cell adhesion molecule (CD31 antigen) |
PECAM1 |
Intron |
17 |
62935986 |
0.4 |
0.21 |
0.47 |
0.48 |
hCV11616543 |
CACTGGAGCTCATTTTCCATTCACCTGTGAGGCTACAAGT[A/G]TATCTGTAATATTTTGTGCTTGTACAAAGGGAAGTGGGGT |
A |
A |
C___2917913_10 |
|
|
polymerase
(DNA directed), gamma 2, accessory subunit |
POLG2 |
Intron |
17 |
63029374 |
0.32 |
0.09 |
0.46 |
0.29 |
hCV2917913 |
AAATCTGGGGGGCAGCTGAATATGTTACTACATGGTGTTT[T/G]TATGACCTCAGCTAACTTCTGTTTTCACACAGAAAATTAT |
G |
G |
C__11615994_10 |
rs392449 |
|
regulator
of G-protein signalling 9 |
RGS9 |
|
17 |
63692346 |
0.26 |
0.34 |
0.03 |
0.12 |
hCV11615994 |
AAATGCAAAGACAAGGAATCAAATCTGCCAACTTTCTATC[A/G]GAGAAACTCGGGTTTCTAACTTTTAAAGTGGGATTATATG |
G |
G |
C___1579208_10 |
|
|
regulator
of G-protein signalling 9 |
RGS9 |
|
17 |
63700792 |
0.06 |
0.48 |
0.37 |
0.5 |
hCV1579208 |
CTATTTAGCAGAAAAAAGTTGGCCTTTGTTTTGCTCCACC[G/T]TTTACCTTCTAATTCATTTCAGGCCCTTCTCAACTGCCCT |
G |
G |
C___1558945_10 |
rs1877822 |
|
regulator
of G-protein signalling 9 |
RGS9 |
|
17 |
63715178 |
|
|
0.33 |
0.44 |
hCV1558945 |
AAGTGGGGTCTGACTGCTACATACTGGGATTAACTCTGCT[G/A]CCTCAGTTTCCTCCTGTACAGCTCCCTGTGCTGCCTATGG |
A |
G |
C___1579237_10 |
|
|
regulator
of G-protein signalling 9 |
RGS9 |
Intron |
17 |
63745046 |
0.05 |
0.38 |
0.33 |
0.24 |
hCV1579237 |
CTACTGGACATGCCTTTAGCCTGGCTGACTGCCGGATGCA[A/G]AACATTACATGATAATATGGATTGTTGATAATCATCTCCC |
G |
G |
C__15968714_10 |
rs2292593 |
|
regulator
of G-protein signalling 9 |
RGS9 |
Intron |
17 |
63748021 |
0.05 |
0.37 |
0.33 |
0.23 |
hCV15968714 |
|
#N/A |
#N/A |
C___7567906_10 |
rs1122079 |
|
regulator
of G-protein signalling 9 |
RGS9 |
Intron |
17 |
63764604 |
|
|
0.34 |
0.23 |
hCV7567906 |
TCCAGTCAGAACAGCACTTGTAAAGGGTTGATCCTTAAAC[T/A]TCGCTAAATGAACACATCTCTGTCTTGTGGTTCCAGGAAT |
T |
T |
C___7567882_10 |
rs1473921 |
|
regulator
of G-protein signalling 9 |
RGS9 |
|
17 |
63776475 |
|
|
0.33 |
0.21 |
hCV7567882 |
CATTGGTTGGCCTTTGGTCACATGACCATGGCTAGCTGCA[C/T]GGGAGTCCGGGAAATGTAGTCTTCAGTTAGGCCAGTTTGT |
T |
T |
C___7567874_10 |
rs1554050 |
|
regulator
of G-protein signalling 9 |
RGS9 |
|
17 |
63777391 |
0.03 |
0.3 |
0.33 |
0.24 |
hCV7567874 |
TGGGCTTGGGCTGTTGCAGCTGGGATGTCTGCAGGGGGGT[G/C]GGAGGGGGGACCCCGGAAAAGCAGAGGTAGGGTGGGAGAA |
G |
G |
C__11421230_10 |
rs7591 |
|
axin
2 (conductin, axil) |
AXIN2 |
|
17 |
64075183 |
0.36 |
0.29 |
0.28 |
0.35 |
hCV11421230 |
AGACCCAGCAGCACCTTTCCTCCACACACCTTCATTTTGA[A/T]GTTCGGGTTTTTGTGTTAAGTTAATCTGTACATTCTGTTT |
T |
T |
C____152579_10 |
|
|
axin
2 (conductin, axil) |
AXIN2 |
Intron |
17 |
64096404 |
0.15 |
0.22 |
0.07 |
0.15 |
hCV152579 |
TTCTGTCCCGTCTGTCCAGCTCACTGTGGGCCCAGGGTCA[A/G]AGTGAGAAGGCCACACTGGCCTCTAGCTGTTTGCATCTCT |
C |
C |
C___2577354_1_ |
rs2240308 |
IMS-JST011830 |
axin
2 (conductin, axil) |
AXIN2 |
Mis-sense
Mutation |
17 |
64104692 |
0.48 |
0.09 |
0.3 |
0.27 |
hCV2577354 |
TCAGCCAGGGGTGGGCAAGGGCCAGGTCACCAAACCCATG[C/T]CTGTCTCTTCCAACACCAGGCGGAACGAAGATGGGTTGGG |
A |
A |
C___2577397_10 |
|
|
|
|
|
17 |
64145460 |
|
|
0.32 |
0.47 |
hCV2577397 |
GCAAGGGCATGACACTCACGGGTTCCAGCAAAGATCACTA[C/T]GAAGTGAATACTGTTTTCCCATTGACTTCTATTGCAAGAC |
G |
A |
C__11937653_1_ |
rs1859454 |
IMS-JST058094 |
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64183592 |
0.34 |
0.16 |
0.05 |
0.08 |
hCV11937653 |
ATGGCTCTGCAATGAGGAGTTTGAACTTTATTCTGTCGTA[T/A]CTGATGGATTTTCAATAAGGATGGGATGTGACCAAATGTA |
T |
T |
C__15936282_10 |
rs2189790 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64194371 |
|
|
0.05 |
0.07 |
hCV15936282 |
TGGAAGAGCACGTGATTATCCACAGTGCTTTTTGAGGATG[A/G]TGGGAATGGAGAGAGGATGGAAATGAGCCACAGCAGACCA |
T |
T |
C___2577476_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64200873 |
0.43 |
0.48 |
0.24 |
0.23 |
hCV2577476 |
ACCTGAAGCTGGATTTAGAGCACCTAAACCTAATTAAAGT[A/G]CTAGGTTTGAACCATTCACTCATGCTAAAGCCACCTTTTT |
T |
T |
C___2577488_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64206170 |
|
|
0.22 |
0.21 |
hCV2577488 |
TGCCACACACAGTCACCTCTATGCTTCCTGCCCTTTCCTC[A/G]GCTAGCAGTTTTTTCTTCCTCTCATCCATCTTGAAAGTTC |
C |
C |
C___2577499_10 |
rs917056 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64215217 |
0.37 |
0.21 |
0.24 |
0.23 |
hCV2577499 |
TGACAATCAGAGGCTTTCTAATGCAAGTTACCCGTTGAAA[T/C]TGTCACACATTAGAGATTTTACCAAAAGAAAGTTAGCTGG |
G |
G |
C___3018225_10 |
rs232110 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64228936 |
|
|
0.26 |
0.27 |
hCV3018225 |
AGTGTTCAAGGGACATTGAGTAACATCTTGGCCAGAAGGT[G/A]TGATATCAGTGAAGAGGAAAACAAGACCAGAAAGTTCGTT |
T |
T |
C___3018199_10 |
rs232152 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64255228 |
0.39 |
0.17 |
0.14 |
0.17 |
hCV3018199 |
ACAGAGACCTGCAACAAAGAGCTGAAGCCGGGGAAATAGG[A/G]TAAAACAGACGTTGAGGGATACTCCCAGAGGAGAACAGAA |
T |
T |
C__11883522_10 |
rs232097 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64265316 |
|
|
0.26 |
0.35 |
hCV11883522 |
TGTCAAGTAAACCCACTGTTGTGTGAAAGGCATGCAACAA[G/A]AAAGAGTTCCTTTCAGAAAGCACTTTCTTTCTTCAGTGAT |
T |
T |
C___3018181_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64272629 |
0.5 |
0.43 |
0.36 |
0.35 |
hCV3018181 |
TCTCAAGGTCTTATCTCCCTCCTCCATGAAGCTCTGCTGA[T/C]TGCCCCAGTCCTCAAGAACCTTACACTTTCATGAGGTCCT |
G |
G |
C___3018171_10 |
rs232089 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64283830 |
|
|
0.37 |
0.32 |
hCV3018171 |
CATGCATCTGGCTGAACTGACTGTTCTCACTTTGAGATTA[C/T]GTTAAGTGTGTTTCAGGGTTCACACTACCTACATGGAAGC |
G |
G |
C___1387097_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64298954 |
0.49 |
0.27 |
0.33 |
0.15 |
hCV1387097 |
ACTGAACAATTTCTGGGGGAAGGAAGACCTGAAGGATACC[C/A]ATTAGAAGCAGCAAGATCTTTCCTGTGGTAGAACTTTGGG |
G |
G |
C___1387090_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64304990 |
|
|
0.3 |
0.27 |
hCV1387090 |
AGTAGTGCATAATTATCTGAGCTTTATGCCATGTTTCTAG[A/G]ATCTGGGAAGCATTCTTGCTTTCTTTCAGCCTAAAACAAC |
C |
C |
C___2875258_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64350207 |
|
|
0.11 |
0.12 |
hCV2875258 |
TTCTAAAGAAATGTAATCCTAAGATATTAACAGCTATTAG[C/T]TTGAGGTTAAACTTGTGCTACACACACACAGTGGATTTGT |
A |
A |
C___2875254_10 |
rs1819910 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64364677 |
0.3 |
0.41 |
0.29 |
0.28 |
hCV2875254 |
ATCATTCACTGGAACTGAATCCTGAGGAAGGATGGTGGGG[G/T]AGTAGTAAGGAAGGGGCTGAGATATTATTTGCTGATGGTG |
C |
C |
C___2875250_10 |
rs1421028 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64372142 |
0.2 |
0.08 |
0.15 |
0.1 |
hCV2875250 |
GATATGCTGGACTGCATGCCCTGGGAAATGCAGGGAGGTG[C/T]CTGACATCTGGGGGCAACAGGCAGAATCTGGCAGAACTTT |
G |
G |
C___2875235_10 |
rs746627 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64400877 |
0.27 |
0.46 |
0.27 |
0.21 |
hCV2875235 |
GAAGAAAAAATAACTAATTTTTCCACTACAGGTTTACAAG[A/G]ATCAGCCTTTTATATAAAGTCCTCTCACATATTCCTTTGG |
C |
C |
C___2875206_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64430503 |
|
|
0.09 |
0.13 |
hCV2875206 |
ATATTCATCACTGCAAATAACGCTTTCATGCTGTCTTACC[G/A]AATTATCTGTATCTTCCCAGTTTTCCTCCTGCTTCTTCCA |
C |
C |
C___2875204_10 |
rs1420803 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64439007 |
0.3 |
0.31 |
0.09 |
0.1 |
hCV2875204 |
|
C |
C |
C___2875181_10 |
rs1345452 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64455515 |
0.38 |
0.44 |
0.3 |
0.21 |
hCV2875181 |
CAGAGAATATGGAGAACCACTCTCCCTACTTTCTCTAGCT[G/A]TAACCCGTTTTTACACCAGGGCTATGTAGAATATAAAGTT |
C |
C |
C___2875147_10 |
rs1420794 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64477116 |
0.43 |
0.42 |
0.1 |
0.06 |
hCV2875147 |
GTTAGTGGGATTAAAGAACACCTTAGAGAAGAAGGAAAAC[C/T]TGAGTCAACTTTGAAAAGACTGACTGGATGAAAAAAAAAA |
G |
G |
C___1383724_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64496156 |
0.44 |
0.28 |
0.13 |
0.05 |
hCV1383724 |
TATTAATGAGGAAAAATTAGAAAATACATGTCCAAAAATT[G/T]GAGAGAATGGAGAAATGATTAATTTTTTTAAGTTAAAAAA |
C |
C |
C___1383723_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64496219 |
0.44 |
0.42 |
0.1 |
0.03 |
hCV1383723 |
GCTATTTTTTAAAAAATACAGTGTGTGAGATGTGTGCTGA[C/T]GGATGTGTATTGTGATGTTATTTATTAATGAGGAAAAATT |
A |
A |
C___1123945_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64537907 |
0.44 |
0.43 |
0.1 |
0.05 |
hCV1123945 |
AGGTGTTTTCACTTACATATTAGGTACAGAAATCTTTGTG[C/T]TTACTATTCAAGTTTGCAGGCTTCCTTTTAGGCTATTTCT |
C |
C |
C__16197642_10 |
rs2319113 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64561505 |
0.42 |
0.3 |
0.12 |
0.06 |
hCV16197642 |
AAATTGTTTTAACTTCACATACCTTCTTTTTCAAGATTCT[T/C]TTCTGACATTTCCATTGTTTATATTGTGTACACAATAAAT |
C |
C |
C___1124032_10 |
rs1443284 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64566944 |
0.42 |
0.28 |
0.12 |
0.06 |
hCV1124032 |
TGATAAATGTTAAAACAGCAGATAGTGACAAAAGCAGCAA[C/T]AAACATTTGCCATTTAACTACTCTTTTACTTTCTATATCT |
C |
C |
C___1124117_10 |
rs1013961 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64585472 |
0.44 |
0.48 |
0.1 |
0.03 |
hCV1124117 |
AAAATGTCTCATGGTCTTTTCATCGTACAACATCTACTGA[C/T]ATAAGAAGTCAGTACTGGAGATATAAATGTTGGAGTTTTA |
T |
T |
C___1124168_10 |
rs1443276 |
|
hypothetical
protein MGC33887 |
MGC33887 |
Intron |
17 |
64603773 |
0.42 |
0.27 |
0.11 |
0.05 |
hCV1124168 |
GAGAGATTTTAAATAGGTAGTTGAATAACTGGGACTTAAG[G/C]TGAGAGACATAGGATGCATATTTCTATTAGGGAATATACA |
G |
G |
C___2658444_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
|
17 |
64743925 |
0.1 |
0.19 |
0.09 |
0.07 |
hCV2658444 |
AGCCAGGCCTGGGCGAGGTGTGTCTCGATGCCAGAGCTGG[C/T]AGTACAGAAGGTGGTGGGCCATCCCCGGTGCTGCTCAGCG |
C |
C |
C___2658440_10 |
|
|
hypothetical
protein MGC33887 |
MGC33887 |
|
17 |
64746634 |
0.21 |
0.38 |
0.19 |
0.13 |
hCV2658440 |
TAGCCAGTATCCATAAAAACTAGCAACCTAGGATACTTCC[T/A]AGCCTTGAATATACAACAATCTTTTCTACCAACTTGTTTC |
T |
T |
C___7567304_10 |
rs1544556 |
|
apolipoprotein
H (beta-2-glycoprotein I) |
APOH |
Intron |
17 |
64760629 |
0.25 |
0.1 |
0.08 |
0.04 |
hCV7567304 |
TTGACAATCATTATAGAACAAAGGCTCTGATTATGATGAC[A/G]GGCAAGTGGGAGTCCTAGCTAAACGTTCCAATGCAGACTT |
A |
A |
C___2658421_1_ |
rs4581 |
IMS-JST037403 |
apolipoprotein
H (beta-2-glycoprotein I) |
APOH |
Mis-sense
Mutation |
17 |
64760858 |
0.19 |
0.44 |
0.28 |
0.16 |
hCV2658421 |
CTCTCTCCTTGGTACACCACAGTGGCTTTTTTCACAGGTA[A/C]TTTACAAGATGCTGAAAGAGAGAATACTTGTAATCAGGAC |
C |
C |
C__15757561_10 |
rs2302377 |
|
apolipoprotein
H (beta-2-glycoprotein I) |
APOH |
Silent
Mutation |
17 |
64769936 |
|
|
0.02 |
0.09 |
hCV15757561 |
TCACCTTGCCCACAGACTTACGAGCACAGACAGGAAGCTC[T/C]GGGCTCCATTTTCCTTCCTCAGTGCACTTGGCAGAATCAG |
#N/A |
#N/A |
C___2658407_10 |
|
|
apolipoprotein
H (beta-2-glycoprotein I) |
APOH |
Intron |
17 |
64770351 |
0.19 |
0.3 |
0.28 |
0.17 |
hCV2658407 |
GTGAACCAAACTGAGTAATCTTCATTATTCATTTTCTTAC[G/A]GCCTACTGACACCAATGAATAAAAGCAATGCAGTCTATTT |
A |
A |
C___2658405_10 |
rs3760292 |
|
apolipoprotein
H (beta-2-glycoprotein I) |
APOH |
|
17 |
64776241 |
0.08 |
0.1 |
0.32 |
0.2 |
hCV2658405 |
TTACGTCAGATCAATACAAAGTCCTCCTCATCCATTCTTA[G/A]TATGTCTTGGATCTGTCTAGACAGGTTTCTAGATCTGTTT |
A |
A |
C___2866405_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64851943 |
0.42 |
0.31 |
0.38 |
0.36 |
hCV2866405 |
AGATAAAAACAATTTTCATTTGGTCTTCAGGAACAAAATA[A/G]GCAACTTCCTTTTACAATTTTAACCATAAACTGTTTTGTT |
A |
A |
C__11876775_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64864649 |
|
|
0.46 |
0.45 |
hCV11876775 |
GGCACCATTATCCTTTTTTTTTTCTTTTTTACTTATTTTG[T/C]ACAACTAGGCACCATAGCACATGCTGGTATTGAGCTGGAT |
T |
C |
C__11876714_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64890481 |
0.32 |
0.17 |
0.34 |
0.5 |
hCV11876714 |
CCCAGCATGGTCTTTTCTGACCACCTAAGACCAAAATGAT[T/C]ATTCAGTCTCTTAATTCCTTTAGCGGTAATTGTGCATGTA |
T |
C |
C__11876706_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64897438 |
0.29 |
0.23 |
0.49 |
0.49 |
hCV11876706 |
GCTTGAATGAGTACAGCCGAATTTCCTGGCCAGGAAAACC[G/A]TGAAGTGTTAGCACTGTTCTGATTTTACTTCCTCCTTCAG |
G |
A |
C__11876700_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64920010 |
0.19 |
0.38 |
0.44 |
0.5 |
hCV11876700 |
AAAACCCTCCCTCCTGTTTTCACGATCACTTTCATCCTAA[A/G]ATCGGGTAGATTACCTCTGCGTTTGTAACATCTTCAGTAT |
G |
A |
C___2866336_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64926381 |
0.45 |
0.09 |
0.49 |
0.5 |
hCV2866336 |
GGAAGTGTTTTGACATTACCCCCAGTGAGCAATTTGAGAA[G/A]CACATAAGCAAAAATAAGAAAGCATTCATGTGGGCTGCTT |
A |
A |
C__11876689_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64933077 |
0.09 |
0.22 |
0.17 |
0.3 |
hCV11876689 |
AGGCTTGAAAGCAAGAACATTCCTTCATTACTTCCTCCTA[C/T]TTATCTTTACTCTTGGCCTTACTACGTCATGACACATCTT |
T |
T |
C___2866325_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64949704 |
|
|
0.49 |
0.49 |
hCV2866325 |
TGCATTATAGCTCCTAAATAAGGTGCTAGCATGATTATTT[G/A]TGAATTTACCCTGTGAGCTATAATTCAAATCCTTGGCCAA |
G |
A |
C___3286477_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64968813 |
|
|
0.24 |
0.48 |
hCV3286477 |
GTGAGGATTTTCACTGGCTTCAGGGCTCTGTGCAATAATA[C/T]AGAAATAGAGAATCTCACACTGAAGCCAGTCAACAGGACC |
C |
T |
C__15836599_10 |
rs2159649 |
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64972061 |
0.01 |
0.06 |
0.02 |
0.08 |
hCV15836599 |
ACGGCATTAAATTGTGGAAGCAGGAATGGTGTTAAAAGGA[T/A]TCTTAGAGGTGGTGCCGGTTAGGAGGAGGAAGGAAGCCGT |
A |
A |
C___3286476_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64978500 |
|
|
0.24 |
0.21 |
hCV3286476 |
ATTAGCAGGGTCCTTGGATGAGTGCCTTGTTGATCAGCTG[G/T]TGACAAAAGCATGGGGATGTCAGAAGCCCGTGTACTGGTT |
T |
T |
C___2654144_10 |
rs1860658 |
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
64989805 |
0.18 |
0.28 |
0.36 |
0.33 |
hCV2654144 |
CTGCAGGTAAATGTCTGTTATGGTGAGTGACATGGTGGCA[C/T]GTTGGGCTCTATGAAACTGAGTCCACACACAGCCTGCTGT |
C |
C |
C___2654166_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65013261 |
0.31 |
0.2 |
0.39 |
0.36 |
hCV2654166 |
ATTCAAACTGAACCTACTATGAAAAGATGTTTGCTGATGG[C/T]TTCGTTGCCCTGCAAACACACACGACAGAGATGGCTGTTG |
T |
T |
C____321674_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65021558 |
|
|
0.38 |
0.34 |
hCV321674 |
TTAATGCAGTCTCTTCTCCTAGTAGCTCTTTTGGCAGCCA[C/T]GGCACCTCATTAATGTGTTTGTTAAAATGCCTCAGTCTTT |
C |
C |
C___7475997_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65031625 |
0.42 |
0.44 |
0.4 |
0.38 |
hCV7475997 |
CATTTAGATCCCGTGTAGCATTTCTGCAACCCTGCCAAGA[A/T]GCAGGACTGTCCTAACGTGCTGAGTGCTTATGCCCTTAGC |
T |
T |
C___2956751_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65047838 |
0.3 |
0.36 |
0.31 |
0.39 |
hCV2956751 |
AGCAGCTGTCTTCTTACCTGGTGTTGGGAAGGCACTTTGA[G/A]TTGGTGCAGGATTTATGTTTCCAGGTGTGTGGCCCTAGAA |
A |
A |
C____370967_10 |
rs2244497 |
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65051044 |
|
|
0.31 |
0.39 |
hCV370967 |
TCAGTGTTTTTCTGTTGCTCATGTTGGCCCATGGGAGTTA[C/T]GTCTCTTGCCTAATGCTGCCATCCAGCAGTGCCTACACTC |
C |
C |
C____223105_10 |
rs2361485 |
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65060627 |
0.49 |
0.48 |
0.3 |
0.25 |
hCV223105 |
ATCTGAGAACTCTCCTTCGCCCAACAGTGTGATGAGAAAG[T/C]TGTCTGTTGCAGATATCTACACTGCTGCATGCTAAGTGTG |
T |
T |
C___1122350_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65084919 |
0.21 |
0.49 |
0.23 |
0.29 |
hCV1122350 |
CAGTTAGTAAATGGCAGCTGTTTTTATTCTCATCCCTTGT[G/T]GGCAGTACTGTCCAGTTCCAGTGATGGGCATTAGTGGCAT |
T |
T |
C____314062_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65107513 |
0.09 |
0.26 |
0.18 |
0.18 |
hCV314062 |
ATGGAACTGGAGTTTAAAATTCTGAATTCATTAGCCTGTT[G/T]TAATGCATAAATCTAACTTCCTTGTCCGTGTGTGAAACTC |
G |
G |
C___2666726_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65119554 |
0.19 |
0.19 |
0.17 |
0.31 |
hCV2666726 |
AAAGGAGGTTTTTTCCTGAGTAATTCTAGCTTGCCTAGCA[C/T]GCTATGAGCAACAGATAGAGGCCAACTTTAAAATCTCCAT |
T |
T |
C___2956764_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65126239 |
0.43 |
0.3 |
0.31 |
0.4 |
hCV2956764 |
TTCTCTGCGCCGGAGATCCTCAAGATCAGGGGAGATGTCT[C/T]GGCATCTCTCAGGGTTCCTCATGCACAGGCGGCTTTCCAC |
T |
T |
C____341669_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65149542 |
0.39 |
0.48 |
0.14 |
0.09 |
hCV341669 |
CTTGAGGGTAAAAGGAGCCAGAGAACACTATCATCGCAGA[C/T]GCTTCATGTGAATTGTTCCATTTTTAAGACAAAGGACGAC |
C |
C |
C___2666693_10 |
rs759115 |
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65164072 |
0.2 |
0.07 |
0.09 |
0.11 |
hCV2666693 |
TACGAACTTCTTATGTTACAATGAGAGAGCCATTCTTATT[T/G]TTTTGAACCAAGATTGAGAGTTTTGTCAGGCCAAGAGGCA |
T |
T |
C___2666672_10 |
rs1860985 |
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65196257 |
|
|
0.08 |
0.04 |
hCV2666672 |
CTTTCATGAGAACACAAATATAAACCATAAGCCATCACAT[A/G]CAGAGTTTATGGTCCAGATGCGAGTGATTTCTCAGAAAAT |
A |
A |
C__16181070_10 |
rs2227857 |
IMS-JST037672 |
protein
kinase C, alpha |
PRKCA |
Mis-sense
Mutation |
17 |
65235179 |
|
|
0.17 |
0.15 |
hCV16181070 |
GTGGTAACTCTTCTTCTCCCGTCCTTGAAAGGTACAAGTT[A/G]CTTAACCAAGAAGAAGGTGAGTACTACAACGTACCCATTC |
A |
A |
C__16181069_10 |
rs2286958 |
IMS-JST037671 |
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65235491 |
0.47 |
0.36 |
0.38 |
0.36 |
hCV16181069 |
TATGACTCTTACCACTTAGAAAATGGAAACTGGAAATATC[G/C]CAGAACTGAGAGCATGGTTGATTTCTGCATAAGAGATCTG |
G |
G |
C____336145_10 |
rs721429 |
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65242006 |
|
|
0.46 |
0.4 |
hCV336145 |
AAAGATAGCTAAGAGGCAGCACACCTGGGGCTTTGTCTGC[A/G]ATGGGATATTTCTGTTGTCAGAATGTAATGAAAAATGATG |
G |
G |
C___2666631_10 |
rs759117 |
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65251724 |
0.46 |
0.36 |
0.37 |
0.35 |
hCV2666631 |
GTCTCGAGGAAATAATTTTGTTGGGAAACCAAAAAAGATT[G/A]TGCATTCTAGTTGTCTGTCTAATGAATTCCTGAAACAGCA |
G |
G |
C____396903_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65268271 |
0.12 |
0.13 |
0.24 |
0.27 |
hCV396903 |
TGGAGTAATGGTTCAGATTCTGATTCTTAACTGTAGATGA[A/G]TCTTTGGACCTGTATTCATACTGGAGATAAATCAGCACCC |
G |
G |
C____316473_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65274825 |
0.4 |
0.48 |
0.28 |
0.08 |
hCV316473 |
GAATGTAAAAATGCTTCTGTCAGCCTTTAGCCTGACTGTG[A/G]GCAGTGTCTCATGCTTATAACCAGACTAATATGATAACAT |
G |
G |
C____156043_10 |
rs3803821 |
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65287818 |
0.38 |
0.32 |
0.5 |
0.36 |
hCV156043 |
TGACATTCTTTTCTCTCTTTGATGCTTGAATTTGAGAATG[T/A]AAAGTATACAGGCATCTAAGGAAGCAAGTGAGAAACCTGA |
A |
A |
C____150109_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65323729 |
0.28 |
0.26 |
0.31 |
0.38 |
hCV150109 |
CCGGGTGTAAACACAGAAAGGCAGTTCGTACACAGTCACC[A/G]TCAGTGAGTCAATGGCTGGAGAAACAGGAGTTGTCTGCTC |
G |
G |
C__11618209_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65329255 |
0.21 |
0.45 |
0.47 |
0.37 |
hCV11618209 |
TCGCTGCTCCTACCCTCATGCCCACGATGCTCCTGCCTTA[C/T]TGGGTAACATAGACTCACAGCGGTGAAAAACGTGAGGAGC |
C |
C |
C__11612258_10 |
|
|
protein
kinase C, alpha |
PRKCA |
Intron |
17 |
65342232 |
0.1 |
0.07 |
0.19 |
0.26 |
hCV11612258 |
AGAAGAGAGTTTTCCCTTTCTGAGATAATGCTGCAGTGCT[A/G]TAGGTGAGCTGAGTACTGTTTAATTTTGTCAGAGAAACCA |
A |
A |
C___2972753_1_ |
rs2286674 |
IMS-JST037287 |
protein
kinase C, alpha |
PRKCA |
|
17 |
65350653 |
0.06 |
0.05 |
0.43 |
0.39 |
hCV2972753 |
ATCCCCCAACCAGAGATGTTAAAGTGAGCCTGTCCCAGGA[A/G]ACATCTCCACCCAAGACGTCTTTGGAATCCAAGAACAGGA |
G |
G |
C___2650094_10 |
rs2048137 |
|
calcium
channel, voltage-dependent, gamma subunit 5 |
CACNG5 |
|
17 |
65417557 |
|
|
0.2 |
0.14 |
hCV2650094 |
AACCCCTACACCATGAACCTTTTATCAAAGCACTCTGAGT[G/T]TTCTCTGAGCCAGTAGGAAACTGAGATCAGGGTGTCTGCA |
G |
G |
C___2650107_1_ |
rs2286676 |
IMS-JST037290 |
calcium
channel, voltage-dependent, gamma subunit 5 |
CACNG5 |
Intron |
17 |
65425136 |
0.47 |
0.23 |
0.47 |
0.33 |
hCV2650107 |
AGATCCTAAAAACACACTTGGAAATACCATTTGTATGGAC[C/T]AACTTCAAATCCATGTTCAAGAGGGACCTGGAAATGTGAT |
C |
T |
C__11873011_10 |
|
|
calcium
channel, voltage-dependent, gamma subunit 5 |
CACNG5 |
|
17 |
65433394 |
|
|
0.43 |
0.34 |
hCV11873011 |
AGGTATTTTGTTGCTGGATTCTTCCATTTGTCTCACAGCA[G/T]GGTGGAGGAGAAGGGTAAGAGAAGCCAGTTCTGGTCCCAA |
G |
T |
C___7567246_10 |
rs917611 |
|
calcium
channel, voltage-dependent, gamma subunit 5 |
CACNG5 |
|
17 |
65436465 |
0.18 |
0.38 |
0.17 |
0.17 |
hCV7567246 |
TGTGAGTGTGGGTTCATCCATGGTAGCAGTGGCTGCTCCA[A/G]TGTGCCATAGAAGAGACGAGGCTCAGTGGTCACCACTACA |
A |
A |
C___2300701_10 |
rs757613 |
|
calcium
channel, voltage-dependent, gamma subunit 5 |
CACNG5 |
|
17 |
65441167 |
0.07 |
0.15 |
0.47 |
0.43 |
hCV2300701 |
AGGAAAGTGGGATTTGGAGGCCAGAGTCTGACTTGACTCA[C/T]GTTTAGGATCTGACACCAATTCCCCCAGCACTTCTCTTAG |
C |
T |
C___2650240_10 |
rs4547371 |
|
|
|
|
17 |
65498688 |
|
|
0.23 |
0.15 |
hCV2650240 |
GTCAACAAATGCTGCTCTAAACATCTTGGTCAAGCTTGCT[A/G]TGACCTCCCATCCTGCCATACACACCTTAGGTCACAGGCA |
G |
G |
C___2650242_10 |
|
|
calcium
channel, voltage-dependent, gamma subunit 4 |
CACNG4 |
|
17 |
65501132 |
0.41 |
0.34 |
0.11 |
0.05 |
hCV2650242 |
AAGCTGCTATTAATCATCTTCCATCACGAACCCATCTTCC[A/G]GGACAAGAGACTGCTGGTGTTGAGTATGCAGAGCAGCCCA |
G |
G |
C___2650250_10 |
|
|
calcium
channel, voltage-dependent, gamma subunit 4 |
CACNG4 |
|
17 |
65506122 |
0.21 |
0.03 |
0.07 |
0.07 |
hCV2650250 |
AAGCCTTGGCTATAGAAACTAGAAATCATGCTTTGTGTCA[A/G]TTCACCTGAGATCTCACCCAGGCTCCTCAAATCCCCTCAC |
A |
A |
C___2590008_10 |
rs3785599 |
|
calcium
channel, voltage-dependent, gamma subunit 4 |
CACNG4 |
Intron |
17 |
65519916 |
0.48 |
0.46 |
0.44 |
0.43 |
hCV2590008 |
GCCTCCATCGCGGTTAACCTGCATACAGTCTCAGAGAAGC[A/G]GCACTGCCCTCCATGACAGCCTCCCCTCAACAAGGATGCT |
G |
A |
C___2589985_10 |
|
|
calcium
channel, voltage-dependent, gamma subunit 4 |
CACNG4 |
Intron |
17 |
65538482 |
0.34 |
0.09 |
0.24 |
0.38 |
hCV2589985 |
CACCCTCAGTGAATGTTTGCTACATGAATGAATAGGTCCC[A/G]TAGATTGGGGAGGAGACGGGTGGGGACCCCATGTTGGATC |
A |
A |
C___2274135_10 |
|
|
calcium
channel, voltage-dependent, gamma subunit 4 |
CACNG4 |
Intron |
17 |
65550494 |
|
|
0.17 |
0.2 |
hCV2274135 |
CTGAATACCCATTCCCCTGTGTTAGGAGAGAAAAGGAGCG[G/A]TTGGTTGGGGAAATCTCTCCGGCTCCGTTTAATTATGAAT |
A |
A |
C___2589968_10 |
|
|
calcium
channel, voltage-dependent, gamma subunit 4 |
CACNG4 |
Intron |
17 |
65562226 |
0.05 |
0.41 |
0.25 |
0.32 |
hCV2589968 |
CTTTGTGTCCCCACCCCACCACCCTGAGGCCAGCCTGTCT[C/T]GGAGTTCCTTCCTCTTGCTCACAAACCCTCATGGTTCTCC |
C |
C |
C___2589902_10 |
|
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65632120 |
0.2 |
0.3 |
0.21 |
0.16 |
hCV2589902 |
GGCTAAAGAGGAAGACTCTAGATTTTCCATCATACAAGTT[T/C]AGAGTGTCTTATCCATTCCGATCCCTTTCTATGCCTTTTT |
C |
C |
C___2589898_10 |
rs763333 |
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65637409 |
|
|
0.06 |
0.16 |
hCV2589898 |
TGAAGAACCTTCCATTGGTCAAAGATAGGGGACAAGGTGT[C/G]AAAATGTATAAGGACTACAATAAAGTAAAAATTCAAATAC |
G |
G |
C____348087_10 |
rs3785575 |
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65658143 |
0.31 |
0.2 |
0.23 |
0.32 |
hCV348087 |
TATTGTTGATATGCATAGTTTGGTCACATGAAGGAGGTCA[C/T]AATCAGGTGTCAAGGTTGTTTATGAATAAGTTGCTATCTT |
T |
T |
C___2589886_10 |
|
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65658623 |
0.47 |
0.26 |
0.06 |
0.17 |
hCV2589886 |
GACTCGTGCGATTGGTTTCGTCCCAAGCTGCCTCTGACTA[T/C]ATGTGCTGCTGGTGCAGGTGCACCATCCTGACATGCCACT |
T |
T |
C___2589874_10 |
|
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65676742 |
0.41 |
0.48 |
0.06 |
0.17 |
hCV2589874 |
ACTAAGGCTAATAAGACAGTCATGCAGTTGCTGGAAATGT[G/C]TGTTGCCAGGAAATACATGCTGAAAAGCTGTCCTTTATTT |
G |
G |
C___1229006_1_ |
rs3213754 |
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65695975 |
0.3 |
0.18 |
0.24 |
0.32 |
hCV1229006 |
CAGTATTTTTCACTATTAGTACAGAACTATTTGAAGTACT[A/G]AAGTTATAATGCATGGCATAATGTCATAGGATGTTTTAGA |
A |
A |
C___1228999_10 |
rs1035176 |
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65707020 |
0.43 |
0.47 |
0.03 |
0.14 |
hCV1228999 |
GCTTTTCCTTTTCTCTTTTTTTCATGTTTAAGAGCTGCAT[C/G]AAAACTGTCTTGCTAGCCCTCATTGTGTATTTAAAACAAG |
G |
G |
C___1228993_10 |
|
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65724264 |
0.23 |
0.05 |
0.03 |
0.15 |
hCV1228993 |
CTTGTCTCCAGTTTATCTAAAATATATTAATAGAAAGCTA[G/C]TACCAAATACAACTATTTCACTAATCTTCCCTCACTCTAA |
G |
G |
C___1228983_10 |
|
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65750620 |
0.47 |
0.21 |
0.03 |
0.17 |
hCV1228983 |
AGTTTTCACTTACTCATTTTCTCCTCCAATTCTGATCAAT[G/A]TTCACAACATTTTTACAATGATTGTAACTGATGCCAACAT |
G |
G |
C___1228996_10 |
|
|
helicase
with zinc finger domain |
HELZ |
Intron |
17 |
65761050 |
|
|
0.23 |
0.31 |
hCV1228996 |
AAGAAAAGGATTCCTATCAGTACTCGAAGAGCAAGAATCT[C/T]ATTAATCTCAATTTCCAGCCTGAAACAGGAGACCAGGTGC |
T |
T |
C____153466_10 |
|
|
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 12 |
PSMD12 |
|
17 |
65890721 |
0.23 |
0.27 |
0.46 |
0.41 |
hCV153466 |
CACATAACATCCTAAATGAACATTTGGTTATCAAATGTGA[A/C]AAATGAAATAGTTTATGCTCAAAATTGCCAAAATTTAATT |
A |
C |
C____146645_10 |
|
|
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 12 |
PSMD12 |
|
17 |
65896217 |
|
|
0.08 |
0.1 |
hCV146645 |
TCATTTTTTTTAAAGTCACATTTAAATCCGTGATAAGATA[T/C]CCAATTCCCAGAAAAATCTAGATATACCATGGCTGTCAGT |
T |
T |
C____507154_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|proteasome (prosome, macropain) 26S subunit,
non-ATPase, 12|retinal degeneration B beta |
PITPNC1|PSMD12|RDGBB |
|
17 |
65917195 |
0.41 |
0.49 |
0.4 |
0.47 |
hCV507154 |
TAAATATGCGTGTGGGTAGGGCAGGAGGTGTGATAAGCAT[T/C]TGGGAAGTAGTCAGGGAGGGAATCACTAGTAAGCCAAGAA |
C |
T |
C____459720_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
65940746 |
0.27 |
0.17 |
0.34 |
0.38 |
hCV459720 |
GCTACTTGAAAGTGGCAGGACCATTGTACTATAAAATCTA[G/A]TAAAGCCCAGGTCATTGGCTATAGGGAGTTGAAAGCTCTA |
G |
G |
C___7917269_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66004290 |
0.06 |
0.01 |
0.06 |
0.13 |
hCV7917269 |
GTAGGATCCTTTCATGGATGACATTGGCTCCTGGACTCCC[C/T]ATCAGTGTGACCAAACTTTCTTACATCTGCGTCTCACTCT |
T |
T |
C___2068012_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66013956 |
0.17 |
0.46 |
0.18 |
0.17 |
hCV2068012 |
AGCCACCTGCCAGCCACAACCAGGTGCATGTTGCCTTTGG[A/G]CCTTGTGTCAAAATATCTTCATCATCTAAGAATAAAACCC |
A |
A |
C___7917100_10 |
rs2916154 |
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66042675 |
0.21 |
0.33 |
0.3 |
0.33 |
hCV7917100 |
CGTGGCTCCCTTTGAGTTGAGTCATCTAAAGGTTATTGCT[T/C]GTCTTAGTAAAACCTGTGCTGTGTTGAGTGCACCGGTGAC |
C |
C |
C___7916985_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66071823 |
0.02 |
0.08 |
0.07 |
0.08 |
hCV7916985 |
ATCTGGACTCACTGGATCTCCTTTCCTGTGTGTAATTAGA[A/C]TTTTGACACCACTTGGCATGAAGCAACGGTGGGCCAGAGT |
C |
C |
C___7916974_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66078070 |
0.18 |
0.22 |
0.26 |
0.18 |
hCV7916974 |
GGCAGCAGGGTCGCATCGTCCTGCGTCCTGACTCTGAGCA[A/G]GGTTGTACCTCATGCAAAAGTTGTTTAATTTCCTCCTTCC |
G |
G |
C___7916911_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66089973 |
0.48 |
0.16 |
0.27 |
0.15 |
hCV7916911 |
TGGGGTTGCTTCATCTTCTGGCCCCCTCCTACAGCATCTG[A/G]CATACTGTTGATATATAGTACATTATGATGGTTGCCTAAT |
G |
G |
C___7916835_10 |
rs3760216 |
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66115604 |
0.24 |
0.06 |
0.34 |
0.2 |
hCV7916835 |
CCCGACACTGAACCTGGGAGGGCTTGTGTCTGGAAATTAT[T/C]CTTGCAGAGACCCAGAAACCTCACTTGTCTTTCCTGGCGT |
C |
C |
C___7916827_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66119453 |
0.44 |
0.22 |
0.44 |
0.41 |
hCV7916827 |
GCCAGTGGGCACCTGGAAATGTGAGAGGAGTTGGAATTTG[C/A]GATGTTGATTTGGGAGGCATCTGCCAAAAAAGAAAAAAAT |
C |
C |
C___7916780_10 |
rs2099375 |
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66140188 |
0.27 |
0.47 |
0.36 |
0.44 |
hCV7916780 |
TTACCTAGAGCTTTGTGTTTATGTTTGTTGAGTCCAGTGG[A/T]TGGTGCCTTGGTGGGTGGATTGCTCATGACAGAGGATGGA |
T |
A |
C__11626821_10 |
rs2706700 |
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66144539 |
0.29 |
0.47 |
0.38 |
0.44 |
hCV11626821 |
AGACAGAGAGAGATTGGTGCCTAGTTAGGATGGAGCAATT[G/A]GCTCAGTGGTCTGAGATAATTCAGGTTTTTGTAACGAATG |
G |
A |
C__11883144_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66163128 |
0.35 |
0.27 |
0.41 |
0.22 |
hCV11883144 |
TGAGCCACGCCTGAAGTTATTCCTGTCCTTCTTTCTCTCC[A/G]GTGTATTGTTGTTGACAGGTTTTTATCTGTTGTTTTGAAT |
A |
A |
C___1207499_10 |
|
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66183701 |
|
|
0.25 |
0.19 |
hCV1207499 |
ATGAACCCAGACCAGGGTTATCTGGGTTGCTCCTCTCCAC[C/T]CAGCTACTGTTGCACACACACACGGCCATCCAGGCCAAAG |
C |
C |
C___1218967_10 |
rs2537833 |
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
Intron |
17 |
66200727 |
0.21 |
0.27 |
0.29 |
0.24 |
hCV1218967 |
AAGATTTGAACAAAGTGCACTACAGCATCTCTCAGGGCAT[T/C]CTTGTATCATGTGCTTATCACTTTGGGATGTCTCCTGTGC |
T |
T |
C___3140216_1_ |
rs1318 |
IMS-JST014474 |
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
|
17 |
66241483 |
0.12 |
0.48 |
0.41 |
0.46 |
hCV3140216 |
CATATGCTTTGTGTGAGTTAAAAAGGGGGTGGGTGGTGTA[G/A]ATATTCCTTTAGCTGCTTTGCATATTTAACCCAGTCATCA |
G |
A |
C___3140211_10 |
rs1979496 |
|
phosphatidylinositol
transfer protein, cytoplasmic 1|retinal degeneration B beta |
PITPNC1|RDGBB |
|
17 |
66246376 |
|
|
0.06 |
0.01 |
hCV3140211 |
GCTGGGACTTTGCCTTAATGCTTTTGCTCTGTTCCCAGCA[C/T]TGAGGAATGGAGCTAGCCTGTGGCCAAAGAAACGACACAG |
C |
C |
C___3140197_10 |
|
|
DKFZP586L0724
protein |
DKFZP586L0724 |
|
17 |
66260970 |
0.11 |
0.16 |
0.22 |
0.21 |
hCV3140197 |
ATGGTCCTTCTACGAATATTCCTTTGATGAAGCACTTACT[G/T]TACCCCATTCATGCAATGTACACGTCACCAGCTGTCAACC |
T |
T |
C___7567121_10 |
|
|
DKFZP586L0724
protein |
DKFZP586L0724 |
Intron |
17 |
66267191 |
0.08 |
0.08 |
0.2 |
0.12 |
hCV7567121 |
TAAACAGTGGGGGTTTTTTTGTTGTTTTCCTCACACACGG[C/T]GTTAACTTCTTTTTCTGGAATTGCAGGCTGTAGTTACAAT |
C |
C |
C___3140189_1_ |
rs2286918 |
IMS-JST037608 |
DKFZP586L0724
protein |
DKFZP586L0724 |
Intron |
17 |
66289898 |
0.37 |
0.49 |
0.23 |
0.36 |
hCV3140189 |
TTACAATTATTCTTAAAATTTGTCCTTAAATAGCTTACTC[A/T]TGGAAGATTTGTTTCTATGTAGACATTATGGTAAAAGTTA |
A |
A |
C__15814398_10 |
rs2086744 |
|
fetal
Alzheimer antigen |
FALZ |
Intron |
17 |
66399376 |
0.26 |
0.09 |
0.33 |
0.26 |
hCV15814398 |
GCTGTAGGTGATTAAATGAGATAGATACGTTTGTTAAAAA[G/C]AAAACTCTCAGTTATTTATATTGATACATTTATATACTTA |
C |
C |
C___1952096_10 |
|
|
fetal
Alzheimer antigen |
FALZ |
Intron |
17 |
66400028 |
0.27 |
0.1 |
0.34 |
0.26 |
hCV1952096 |
|
#N/A |
#N/A |
C____147772_10 |
|
|
fetal
Alzheimer antigen |
FALZ |
Intron |
17 |
66421699 |
|
|
0.34 |
0.27 |
hCV147772 |
CGTTCAATGGAAGCAGGTTTTTTGTGATTATTTAGTAGTT[G/A]ACTGAATGTGGCCATTTGCCCTGAAGCAATTTTAAAGAAT |
G |
G |
C_____32138_10 |
|
|
fetal
Alzheimer antigen |
FALZ |
Intron |
17 |
66432060 |
0.3 |
0.36 |
0.33 |
0.26 |
hCV32138 |
TAGTCATATCACTTGGTTATTCTCCAGCTCTGGGGTATCC[G/A]AAAAATTGTCTGCCTTGTACTGGAGACTAAGGTGATACGA |
A |
A |
C___2183336_1_ |
rs2302097 |
IMS-JST058365 |
|
|
|
17 |
66707859 |
0.21 |
0.18 |
0.13 |
0.26 |
hCV2183336 |
CGCATCTTTGTACTTACCAATTTAAGATATTTCCTGCGGT[A/G]TAACTTTCTCATCGACATTTATTTTTTGGGTATTCTATTC |
A |
A |
C__11419059_1_ |
rs1964244 |
IMS-JST036880 |
|
|
|
17 |
66718930 |
0.23 |
0.12 |
0.34 |
0.4 |
hCV11419059 |
TACACTGCAGTAAAAGAACAAAGCATACCTCAGCCTTAAA[T/C]GACTGAAGAAGAATGTCAAGTGGGGAAGTGGCTTTGGTTT |
C |
C |
C___2183321_10 |
|
|
|
|
|
17 |
66720555 |
0.42 |
0.3 |
0.12 |
0.08 |
hCV2183321 |
AGTGAGTTTTATGAAAGTGGTATTTTTTTCTGGAATGTAC[T/G]ACTCGTTTAGCAGCCTTCATATTTTTTAACTCTAGCCTTT |
T |
T |
C___2183211_10 |
|
|
hypothetical
protein LOC51321 |
LOC51321 |
|
17 |
66790641 |
0.44 |
0.22 |
0.42 |
0.26 |
hCV2183211 |
GCCTTGTCTTCCCCATGCCCCCAAGGTCCCCAGCAGAGGC[A/C]TTCTGGCCCCTCCTCGCCCCGCCCAGACACAGCTGCTTTG |
C |
C |
C__15757163_10 |
rs2302095 |
|
solute
carrier family 16 (monocarboxylic acid transporters), member 6 |
SLC16A6 |
Intron |
17 |
66866944 |
|
|
0.38 |
0.31 |
hCV15757163 |
GTCTTACTTTGTAAAAATGCTATCTTTTGGCTGCAAATAC[T/A]GCAAAAGAGAAATTATCATCATCTTTGGTGAAGATCAAAC |
T |
T |
C____538734_10 |
|
|
Arylsulfatase
G |
KIAA1001 |
|
17 |
66896146 |
0.38 |
0.18 |
0.38 |
0.43 |
hCV538734 |
AGATGGGCCTTCGTTGTGGGATTTGTTGACTGACGTGGCC[A/G]AGTACCTTCTGCCCCAGTGGAAGGAGGGGTGAATGCTGTA |
A |
A |
C___2183125_10 |
|
|
Arylsulfatase
G |
KIAA1001 |
Intron |
17 |
66911950 |
0.3 |
0.17 |
0.45 |
0.44 |
hCV2183125 |
TGTTTACTTATGTACGTTGATTTGCAATATGTTAACTTTG[C/T]GCCTTGATCTCATTTCTTCTCTGCTTTCCCCCTTCTCTAC |
C |
T |
C___7972739_10 |
rs2041982 |
|
Arylsulfatase
G |
KIAA1001 |
Intron |
17 |
66949734 |
|
|
0.26 |
0.33 |
hCV7972739 |
CTTTGCAAGCTTTACAGAGTGGTCAGCTCGTCCATGGAAC[A/G]TAAATATCTATTCAAAGGGAATGGAAGAAAGCATTATGCA |
G |
G |
C___1386062_10 |
|
|
Arylsulfatase
G |
KIAA1001 |
Intron |
17 |
66976120 |
0.1 |
0.17 |
0.13 |
0.15 |
hCV1386062 |
CTGTGGACCTGTGATCATTTGGGTGGCTGGCATATATAAT[T/C]GTGTCTTCCTGTTAGAGCCAGAACCCAGGATGTAGCCTGC |
C |
C |
C___1386063_10 |
|
|
Arylsulfatase
G |
KIAA1001 |
Intron |
17 |
66979332 |
0.08 |
0.37 |
0.46 |
0.33 |
hCV1386063 |
CAGACCCATCACATCAGGTAAATGTGATGTCTCACCATTA[C/T]TCTTATTGCCGCCTTAAGGCAGATCCAGGAGGCCATCTCC |
T |
C |
C___1386079_10 |
rs1030097 |
|
Arylsulfatase
G |
KIAA1001 |
Intron |
17 |
66990304 |
0.44 |
0.48 |
0.42 |
0.28 |
hCV1386079 |
GGAATAATTGGGGTCATCAGGAAGTGCTTCAAGGACTGTG[C/G]TCTCCTTGACGTTGTCGGTACTGCCTGTGGGAGCCAGCTC |
C |
C |
C___1386096_10 |
rs1002446 |
|
Arylsulfatase
G|hypothetical protein FLJ10055 |
KIAA1001|FLJ10055 |
Intron |
17 |
67022046 |
|
|
0.02 |
0.06 |
hCV1386096 |
GGCACTGAAGCTTGTCGTTCTTGGCGAAGGGACAACTCTA[T/C]ACGACCAGCTCTCGAAAGGCTGTCTTTTGAAAAGCAGTCT |
T |
T |
C___1386113_10 |
rs888298 |
|
hypothetical
protein FLJ10055 |
FLJ10055 |
Intron |
17 |
67041458 |
|
|
0.28 |
0.24 |
hCV1386113 |
CTTTATCATTTCCCCAGAGTGGGCAGTCCTCCCGGACACC[A/G]CAGAATCCCTACCTGGCAAGAGAGGCTGCAGCAGCTGAGT |
G |
G |
C___7972624_1_ |
rs2302782 |
IMS-JST059241 |
hypothetical
protein FLJ10055 |
FLJ10055 |
Intron |
17 |
67043926 |
0.32 |
0.14 |
0.15 |
0.1 |
hCV7972624 |
AGAATTGGAAGCTTGTTTTACAGACATTGATCTTGAAAGA[T/C]GTCCATCTTTTTGTTTGGCTCCCGTTAGCAGAAGCTTTGA |
C |
C |
C____221617_10 |
|
|
protein
kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific
extinguisher 1) |
PRKAR1A |
Intron |
17 |
67107015 |
|
|
0.12 |
0.07 |
hCV221617 |
GACTGCATTAATTTTGGTACATTTCTGTTCGTATACTGTC[C/T]TATTACCGGTGGCTATCTTTTTGGTTTTCGTAATACATTA |
C |
C |
C____340486_1_ |
rs2302230 |
IMS-JST058535 |
protein
kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific
extinguisher 1)|family with sequence similarity 20, member A|hypothetical
protein DKFZp434F2322 |
PRKAR1A|FAM20A|DKFZp434F2322 |
Intron |
17 |
67122110 |
0.37 |
0.1 |
0.11 |
0.08 |
hCV340486 |
TTCTTTTTACCTTTATAACAGCACCAAATAATACAGAGCA[A/G]TTATTTTGATTCTTGTCTTTCAGAGTCTCTGGACAAGTGG |
G |
G |
C___2597422_10 |
rs9925 |
|
protein
kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific
extinguisher 1)|family with sequence similarity 20, member A|hypothetical
protein DKFZp434F2322 |
PRKAR1A|FAM20A|DKFZp434F2322 |
UTR
3 |
17 |
67124957 |
|
|
0.11 |
0.28 |
hCV2597422 |
TATCCTGCTGAAAGTCCTGCTTTCCTATCTAGCATTTATT[T/C]CTCTGGCAAACTTTTCTTTCTTTTCTTTTTTAAAGTAAAC |
C |
C |
C____336675_1_ |
rs2286560 |
IMS-JST037140 |
protein
kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific
extinguisher 1)|family with sequence similarity 20, member A|hypothetical
protein DKFZp434F2322 |
PRKAR1A|FAM20A|DKFZp434F2322 |
Intron |
17 |
67134427 |
0.11 |
0.14 |
0.46 |
0.38 |
hCV336675 |
CTGCATATTCCGTGTGGTGAGAAGGTCCTGGGTCCTTTAA[G/A]TCTGGTGGACACTAAACCCATGGTTGGGATACTGTGTGCC |
G |
A |
C____336677_1_ |
rs2302234 |
IMS-JST058539 |
protein
kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific
extinguisher 1)|family with sequence similarity 20, member A|hypothetical
protein DKFZp434F2322 |
PRKAR1A|FAM20A|DKFZp434F2322 |
Mis-sense
Mutation |
17 |
67135362 |
0.27 |
0.28 |
0.38 |
0.45 |
hCV336677 |
ACGGCAGGAAGGCAGAGAGGGAACCCTCCAGCAGGTGTGG[G/T]TTGCCACAGACAGCATACTCCGTCTTGCACATGTATGGAC |
G |
G |
C__11424189_10 |
rs1860332 |
|
family
with sequence similarity 20, member A|hypothetical protein DKFZp434F2322 |
FAM20A|DKFZp434F2322 |
Intron |
17 |
67150131 |
0.19 |
0.19 |
0.08 |
0.12 |
hCV11424189 |
TCCTATATATCCCTGTTTCTCAAACTGTGATAGTATACCT[C/T]GGGTCTGGGGTGGGGTGAAAAACAAAACAAACATGGCAGA |
C |
C |
C___2597465_10 |
|
|
family
with sequence similarity 20, member A|hypothetical protein DKFZp434F2322 |
FAM20A|DKFZp434F2322 |
Intron |
17 |
67165923 |
0.23 |
0.2 |
0.43 |
0.33 |
hCV2597465 |
TGCAGAACGATCAACTCTCCCCAAAATGCATCTTCAGCAG[A/G]ACGAGCTGACTCATCATCAGAATTCTATGGGTTGTCATAA |
G |
G |
C___2597470_10 |
rs3815357 |
|
family
with sequence similarity 20, member A|hypothetical protein DKFZp434F2322 |
FAM20A|DKFZp434F2322 |
Intron |
17 |
67175346 |
0.2 |
0.2 |
0.25 |
0.38 |
hCV2597470 |
GCCATCAAAGTGTCACCGACTCACCAGAGGCACGGTTTGA[G/A]GGGAAGGTCTCCAGGGAGCAGAGATTAGCCTGTTTAACCA |
G |
G |
C___2597478_10 |
|
|
family
with sequence similarity 20, member A|hypothetical protein DKFZp434F2322 |
FAM20A|DKFZp434F2322 |
Intron |
17 |
67191167 |
0.26 |
0.16 |
0.45 |
0.29 |
hCV2597478 |
AGGCCCCCTGTCTTCATCAGCACTGCTACATCCTCATATT[C/T]GGCAGGGAGCACTCTCATTTAAGGTAATGAGTGACTCCCT |
C |
C |
C___1174418_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 8 |
ABCA8 |
Intron |
17 |
67472417 |
0.41 |
0.49 |
0.42 |
0.47 |
hCV1174418 |
TTATACAACTAAATTACAAGTACAATTAAAGTCAATTTCA[C/G]CCCCTTGTATCTAATTTTTGATCTATTTCTTGAAAACACT |
G |
C |
C____303721_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 8 |
ABCA8 |
Intron |
17 |
67479589 |
0.41 |
0.5 |
0.4 |
0.47 |
hCV303721 |
TTTTTTGCCATACCTAGGACCATGGCCATTGTGCACCTTG[G/T]TTTTTGTCTATATCTAGGAGAGATTATTACCAGTTCCTAG |
G |
G |
C____225722_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 8 |
ABCA8 |
Intron |
17 |
67488500 |
0.46 |
0.33 |
0.4 |
0.5 |
hCV225722 |
TTATGATTATTATTAATGTAAAAGATTTTTTTAGTTCCAA[A/G]TGTCTTTCAAAATAGATTTTAGAATCTTGCAATGAATGTC |
G |
A |
C___8547404_10 |
rs767690 |
|
ATP-binding
cassette, sub-family A (ABC1), member 8 |
ABCA8 |
Intron |
17 |
67521678 |
|
|
0.21 |
0.22 |
hCV8547404 |
AGGACACAGTCAAAAGGTGTGGTGATCCATGTAAATTGGC[A/G]GCATGAGGGAGAATTTCTGGGCAAAAGGCACTGCTGTGTT |
A |
A |
C___1124240_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 8 |
ABCA8 |
Intron |
17 |
67526951 |
0.5 |
0.19 |
0.44 |
0.31 |
hCV1124240 |
GACACTAAACTAAAGCTTTTTCTAACACTGGATATAACAC[A/G]GGCATAATAGGCCAATGGAAGTTCAAGTAAGATTACTTAC |
A |
A |
C___2600191_10 |
rs2041321 |
|
ATP-binding
cassette, sub-family A (ABC1), member 8 |
ABCA8 |
Intron |
17 |
67547809 |
|
|
0.36 |
0.32 |
hCV2600191 |
AAATAGTCTCAAATTGTAATGACTCATTTTTATCCTCTTA[T/C]ACTGTTGTAAAATTCAGAACAACATGTATTCACTATAGGA |
T |
T |
C___2600187_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 8 |
ABCA8 |
|
17 |
67551032 |
0.48 |
0.18 |
0.36 |
0.3 |
hCV2600187 |
ATGCCACAAATAGTGACATAAGGATGAAAGGTAGTGGTGC[T/C]TAGCACACCTTAATTTAATTTGCCAGCCTGATCCTTGCAG |
C |
C |
C___2600157_10 |
rs1541470 |
|
ATP-binding
cassette, sub-family A (ABC1), member 9 |
ABCA9 |
|
17 |
67576822 |
|
|
0.37 |
0.38 |
hCV2600157 |
CTTTCAAATCAGCACTTTGTTCTCTTATTTCCCTCTTGTG[G/T]GAGCCCTTGGAATTGAATTTCTCTTAAGTAAAGTACTTGC |
G |
G |
C__11884641_1_ |
rs2302292 |
IMS-JST058615 |
ATP-binding
cassette, sub-family A (ABC1), member 9 |
ABCA9 |
|
17 |
67584377 |
0.37 |
0.27 |
0.35 |
0.36 |
hCV11884641 |
CCTCTCTATTCTTCTACTTGCACCATCCGCCTTTCAAACA[G/C]CCTAGTTTCCTTCAGTGAGTAGAGTAATGATATCCTTATA |
G |
G |
C___2600141_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 9 |
ABCA9 |
|
17 |
67617961 |
0.24 |
0.04 |
0.44 |
0.47 |
hCV2600141 |
TTGTCAGCATCTACTCAAAAACCCAACCTCCCAACCTTGA[A/G]CTTTCCCTTTGTAGTAATGTATGAGTTCTGCCGAAACTCA |
A |
A |
C___2600140_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 9 |
ABCA9 |
|
17 |
67618258 |
0.31 |
0.23 |
0.37 |
0.36 |
hCV2600140 |
TGAAAGGTGCTGAGGTGACAGAGTGGTGAGAAGATCACAA[T/C]TGACTGATGATACAAACCTAAAAAATCAGTTTGAAAAAAA |
C |
C |
C___2600131_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 9 |
ABCA9 |
|
17 |
67634603 |
0.33 |
0.19 |
0.38 |
0.38 |
hCV2600131 |
TAGGCTTTTCTTATGAGAGGAAAAAAAATGCCCTGATTTT[G/T]AATCCTTTCTCACTGGATTATTATTTTTAAAATCATCTTG |
T |
T |
C____330039_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 9 |
ABCA9 |
|
17 |
67642091 |
0.17 |
0.05 |
0.02 |
0.06 |
hCV330039 |
ATTGTTTCTCTTTGTTCTCTTCCTACACCCACAGGAAAAA[C/A]CACGCCAATCTTGTGGCTTTTAGAGCTTTGTGTCCCACCC |
A |
A |
C___2600118_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 9 |
ABCA9 |
|
17 |
67653406 |
0.34 |
0.2 |
0.37 |
0.33 |
hCV2600118 |
CATGAATGTGGTTATTTATCTCTGAGCGTTAAGACTGATT[G/T]TTCCCCCCACTGAACATCTTAGTGTAAATATCAGAGAAAA |
G |
G |
C___2600112_1_ |
rs2302289 |
IMS-JST058612 |
ATP-binding
cassette, sub-family A (ABC1), member 6 |
ABCA6 |
|
17 |
67672417 |
0.04 |
0.49 |
0.13 |
0.12 |
hCV2600112 |
GATTATCAAGTTGTTGGTCTTCCAAATGAACAGGAAAATG[T/C]ATGTTGCTTTCATGTGAAATTTACCAGATGATACAAAGTC |
C |
C |
C___2273714_1_ |
rs740516 |
IMS-JST036955 |
ATP-binding
cassette, sub-family A (ABC1), member 6 |
ABCA6 |
|
17 |
67680085 |
0.16 |
0.02 |
0.48 |
0.45 |
hCV2273714 |
TTAGGTCTCTGCTGGAACCTTTCATGCCTTATGTCATAAG[G/C]CAAACCATATTTTGAGTTGAGAGTAATTCATGCTGCTAAA |
G |
C |
C___2588405_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 6 |
ABCA6 |
|
17 |
67705485 |
0.04 |
0.43 |
0.42 |
0.27 |
hCV2588405 |
ACCTTAGGTGATATCCAAGACCCCACCTTCTTTTCAAAAA[G/C]ATAGAAGAACCTGCACACTTCAGTCTCCCATTGGACATGA |
G |
G |
C__11884676_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 6 |
ABCA6 |
|
17 |
67714649 |
|
|
0.12 |
0.11 |
hCV11884676 |
GTACCACCTTGCCATTAAAGAGCTACAACATTGACCGCCT[A/G]AGCCTACTTTCTTGCTTTGGTGTGGATCTGGGGTGAGGTG |
G |
G |
C___2588409_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 6 |
ABCA6 |
|
17 |
67723687 |
0.3 |
0.4 |
0.46 |
0.45 |
hCV2588409 |
TTGGTACCTACGTGTTAGGCAACAGCTCTGTGTGCATGTA[C/T]TGTGTAAATAGTATGACTATTGTATTAAACAGTATCAATA |
T |
C |
C___2588416_1_ |
rs3744489 |
|
ATP-binding
cassette, sub-family A (ABC1), member 10|ATP-binding cassette, sub-family A
(ABC1), member 6 |
ABCA10|ABCA6 |
|
17 |
67735261 |
0.33 |
0.4 |
0.46 |
0.45 |
hCV2588416 |
TTCTCCCTAAGCCAATTATTCTGCAAGGAAATGACTGTTC[C/T]GTGGTTGGTTGGGAATAAAATAAACTCTGTGTTTGTTCAC |
C |
T |
C___2273722_10 |
rs740519 |
|
ATP-binding
cassette, sub-family A (ABC1), member 10|ATP-binding cassette, sub-family A
(ABC1), member 6 |
ABCA10|ABCA6 |
Intron |
17 |
67745073 |
0.42 |
0.1 |
0.32 |
0.3 |
hCV2273722 |
TCTGTACTTTGTTCTTAATCTCCAAGCCATTCCACCATTT[G/A]CACACATATATGAATGCACACACACACACCATTCACCTTT |
G |
G |
C___7564349_10 |
rs981453 |
|
ATP-binding
cassette, sub-family A (ABC1), member 10 |
ABCA10 |
Intron |
17 |
67756613 |
0.28 |
0.46 |
0.4 |
0.36 |
hCV7564349 |
AGAATTTATTTGAAAAATAAATCCCTATTAAGTCTTGAAG[T/G]TTCCAGGGTTTGTTTGCTGTGTCAGAGTTGCAATGAACAT |
T |
T |
C___2273725_10 |
rs740520 |
|
ATP-binding
cassette, sub-family A (ABC1), member 10 |
ABCA10 |
Intron |
17 |
67767859 |
0.26 |
0.13 |
0.47 |
0.46 |
hCV2273725 |
TTCATTTTGATTCTACTATTATAATTGGCTTGTGGAAAAA[G/A]TGATCACTTACCAAAACAAACATGAGTTCCCATGAAAGCT |
A |
G |
C___7461541_10 |
rs1558168 |
|
ATP-binding
cassette, sub-family A (ABC1), member 10|ATP-binding cassette, sub-family A
(ABC1), member 5 |
ABCA10|ABCA5 |
Intron |
17 |
67833763 |
|
|
0.46 |
0.36 |
hCV7461541 |
CATCCACAGGAGCCTGAACAATGGGCCATTCTATGGTCCC[A/G]GAATAGAGGAAATGGAGGGTTTGGAGTGGCTAACCTAGTT |
G |
G |
C___2588440_10 |
rs15886 |
IMS-JST036957 |
ATP-binding
cassette, sub-family A (ABC1), member 10|ATP-binding cassette, sub-family A
(ABC1), member 5 |
ABCA10|ABCA5 |
UTR
3 |
17 |
67840412 |
0.5 |
0.21 |
0.46 |
0.31 |
hCV2588440 |
TTCACATTGCTTTATGTATCTTTTCTATGCATTAGTTATG[A/T]ATTAGTTTTTTATTTAGATTGGAACATTACGTACTTATTT |
#N/A |
#N/A |
C__11884711_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 5 |
ABCA5 |
Intron |
17 |
67858361 |
|
|
0.47 |
0.33 |
hCV11884711 |
CTAAATACAAATTCCATTTAGCCTTTAATTTGGCTCATTA[C/T]TTCTGAGATGTAACAATTTCAACAAAATTTTTAAGAATCA |
C |
C |
C___7974456_10 |
rs817571 |
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
|
17 |
68002073 |
0.42 |
0.33 |
0.33 |
0.49 |
hCV7974456 |
ACATCTAGTAGACACTGTTGGAAAACATTCATAAATGTCA[T/C]GTGCAGATTTGTATTACTACTTTGAAGGCAGTATTTCAAA |
C |
T |
C___3253118_10 |
rs817547 |
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Intron |
17 |
68010239 |
0.5 |
0.34 |
0.16 |
0.08 |
hCV3253118 |
CAGTTTTTGAGTTGAGAAGCCAAAGGAGATATTAGCACTG[C/T]ACTCTTCCCTATGGATGTGTTTACAATGGATCAGGTACTG |
T |
T |
C___3253108_10 |
rs707247 |
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Intron |
17 |
68023735 |
|
|
0.36 |
0.49 |
hCV3253108 |
GGCAATCATGTGAGCTTTTATTCCATATTAGTTCTGCCTG[A/T]AAGAAATGATTATACATCTCTGATTCTTTCAGCTTCAGCA |
A |
A |
C___2148342_10 |
rs817564 |
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Intron |
17 |
68029892 |
0.47 |
0.4 |
0.13 |
0.1 |
hCV2148342 |
ACTTATAAAGTGGACTAAGTTGGTTTTTGCTAAATTCATC[T/C]TCCCTTTTCTAGTCTTTCCTCTTCCTTCTTCTCATAGGAG |
T |
T |
C___1122676_10 |
|
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Intron |
17 |
68051963 |
0.27 |
0.28 |
0.1 |
0.06 |
hCV1122676 |
CTACCTGGCTTTCATTCCCATTATTGAAATACTCTTACCT[T/C]GTGCAGTGTCTCCACGTTTCAGGAAAGAAAAGAAGAAGTT |
C |
C |
C___2977634_10 |
rs2716225 |
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Intron |
17 |
68065080 |
0.43 |
0.43 |
0.14 |
0.14 |
hCV2977634 |
CTGTATTATTCTGTAGGCTGTAAAGTCTGTGAGAGAAAAG[G/A]TTATGGTTCAGCCCTCCTTGTATTGTCAGTACTTGACACA |
A |
A |
C___2977638_10 |
|
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Intron |
17 |
68071321 |
0.26 |
0.38 |
0.07 |
0.09 |
hCV2977638 |
TGGCAAGATTAGTATGGTCAAAGTAGAGTCCAGACCAAGA[T/C]TGGGTGTGTTCCAGGAAATAGCGGGACTTCCATTTGAGTG |
C |
C |
C___2546488_1_ |
rs739559 |
IMS-JST035819 |
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Intron |
17 |
68087353 |
0.41 |
0.3 |
0.22 |
0.46 |
hCV2546488 |
GATCAATTTCTAACCAACAGAGGGATGTGTGAGTCAATAA[T/C]AAGGGATAAGAGCAGCAGAATCCAGTGGAAAAAACTACAG |
C |
C |
C___3252553_10 |
rs2716214 |
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Intron |
17 |
68093086 |
0.4 |
0.3 |
0.5 |
0.42 |
hCV3252553 |
TTGTGAGAAAAGGTTTGCGGGAAATGAGTGGAAGATGGTC[A/G]TGGAGATCTATTGTAGAGAGAGTGGACATTTTTCAACTAA |
A |
A |
C___8548016_1_ |
rs2251862 |
IMS-JST057780 |
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Silent
Mutation|UTR 5 |
17 |
68110126 |
0.42 |
0.46 |
0.5 |
0.33 |
hCV8548016 |
TATGTTTCTTCTTTTCCCCCTTATCTTTCTTAGACCACCT[A/C]GAGATTTAGACTCCAAGGCTTGCATTTCTATTGGAAATCA |
A |
A |
C___8548023_1_ |
rs2251855 |
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
Intron |
17 |
68110178 |
|
|
0.41 |
0.33 |
hCV8548023 |
TCCAAGGCTTGCATTTCTATTGGAAATCAGGTAAGAAAAA[G/A]TCATGTCTGCCACCTAATACGTTGGCCATTTTATATGTAT |
G |
G |
C__11884861_10 |
rs989681 |
|
mitogen-activated
protein kinase kinase 6 |
MAP2K6 |
|
17 |
68139616 |
|
|
0.12 |
0.12 |
hCV11884861 |
TCTTAGTCTAGAAAAATGCAATACTCAAAAGCCCCAGCAT[C/T]GGAGGAGGCTGGTGCTAAGATGGACAGGGTTCCTGATTTC |
T |
T |
C___2977576_1_ |
rs756942 |
|
|
|
|
17 |
68154081 |
|
|
0.34 |
0.34 |
hCV2977576 |
AAAGCTTAGAGATGATCTAAAAGAATGCTGCTTTTGCTCT[T/C]TCCAAATTCAGGAAATTTCTGGTATTGTCTGAGACTTAAT |
T |
T |
C___2548587_10 |
|
|
|
|
|
17 |
68168496 |
0.35 |
0.27 |
0.23 |
0.35 |
hCV2548587 |
ACCGTGGATGAAGTGTTTTCATATTGATAAGTGAATGTAC[G/A]ATGGGTGGTCAGATTTGGTGGTATTTCATGCTTTTTACCT |
G |
G |
C__16279447_10 |
rs2716168 |
|
|
|
|
17 |
68215921 |
0.29 |
0.41 |
0.29 |
0.39 |
hCV16279447 |
TGGTGGAGGGCGTGGGGCTATTATTTCATTTACCACTGGC[A/G]TGTGTTGTTTTATGGGAGAGGGGCATCTGCAGTGGGAAAT |
A |
A |
C___7564473_10 |
rs974654 |
|
|
|
|
17 |
68463789 |
|
|
0.22 |
0.2 |
hCV7564473 |
TGTCACCAAGAATGACACAGTAATTTAAGCCTGGGAATGC[A/C]ATTTATTCAAACTCCTCATTTCCTAAATGAGCTCAGATTA |
C |
C |
C___7564515_10 |
rs179929 |
|
|
|
|
17 |
68489318 |
|
|
0.42 |
0.43 |
hCV7564515 |
CAGTGCTGGCCATCTGAAAGTTTAGGGAACATGGCCTCTC[A/G]CCAAGAACGTGTTACTTGCCCAAACCTCACCTCTTCTCTC |
G |
G |
C___2546053_10 |
rs180063 |
|
|
|
|
17 |
68559670 |
0.27 |
0.09 |
0.41 |
0.34 |
hCV2546053 |
ATTTAATGTATGAAGTGGTTTTACCATATGTTTTGCCATG[A/G]AACAACATGACCTGAACCTTCATTGTTCCAACCTCATCTA |
A |
A |
C___2546051_10 |
rs180061 |
|
|
|
|
17 |
68559787 |
0.39 |
0.22 |
0.15 |
0.19 |
hCV2546051 |
AATACTTATTTCCTTAATCTGATCTCTATCCTAAGGCTGC[A/G]TTATAGGTTCTGGGATCCTTCCCTTTTCAGGGACAAATGG |
A |
A |
C___2585759_10 |
|
|
potassium
inwardly-rectifying channel, subfamily J, member 16 |
KCNJ16 |
Intron |
17 |
68687330 |
0.32 |
0.15 |
0.49 |
0.43 |
hCV2585759 |
ATTGTCAAAAATATGTATCCTATAAACTTGGTTTAAATTG[T/C]GATTTGGTATTGATGCAATGGCTCATGACTCAGGTTTTCT |
C |
T |
C___2585773_10 |
|
|
potassium
inwardly-rectifying channel, subfamily J, member 16 |
KCNJ16 |
Intron |
17 |
68705540 |
0.27 |
0.24 |
0.42 |
0.34 |
hCV2585773 |
ATGAATAACAGGACAAATATTCCTTCAGCCTATTATGTCT[T/C]CTCTCGTAAATGTTTCTGGATAAGGGAGCTGGCATGGGCA |
C |
C |
C___2585783_10 |
|
|
potassium
inwardly-rectifying channel, subfamily J, member 16 |
KCNJ16 |
Intron |
17 |
68723914 |
|
|
0.31 |
0.33 |
hCV2585783 |
ACTCTTTCTGTCCTTTTGCAGCAGAGAAGGTGCTGAACAC[A/G]TATTTAGTGATGAATTTCCCTGGTTAGTTCCAAGGGGTCT |
G |
G |
C___2958047_10 |
rs987634 |
|
|
|
|
17 |
68751159 |
0.49 |
0.36 |
0.33 |
0.46 |
hCV2958047 |
CTACTCACAGTTCTTTCTGGAGTCAAGGCCTCTGGCTATT[T/C]AAGCCATCTCCCTTCTTAGCAAGTTAAGATTGGGACAAAA |
T |
T |
C__11938668_10 |
rs2058063 |
|
potassium
inwardly-rectifying channel, subfamily J, member 2 |
KCNJ2 |
|
17 |
68754963 |
0.11 |
0.17 |
0.1 |
0.03 |
hCV11938668 |
AGGGCTGCATCCAGAGGCAATGGATGAAGAAATGACAGTT[C/T]GATTAATGTTCCAACAGCCTTGTTGACACATCTTATCCTT |
C |
C |
C___2958054_10 |
|
|
potassium
inwardly-rectifying channel, subfamily J, member 2 |
KCNJ2 |
|
17 |
68758999 |
0.1 |
0.17 |
0.1 |
0.03 |
hCV2958054 |
GTCTAGGGTCATTTAATGCAGGAGAAAAGGCTCTACTGTA[A/C]CCTGATAGGCCTACTGTATTGCAGGTAAAAAATGAAATAG |
C |
C |
C___7564855_1_ |
rs236512 |
IMS-JST012153 |
potassium
inwardly-rectifying channel, subfamily J, member 2 |
KCNJ2 |
Intron |
17 |
68763476 |
0.36 |
0.15 |
0.44 |
0.32 |
hCV7564855 |
TTTTTTCGTCATTGCTTCAAGTATAGCTGTGAGTTTCAAA[G/C]AGAGTGAGTGTCTCAAAGTTGCCTTCCTGAAAGAAGAGCG |
G |
G |
C___2587450_1_ |
rs3744486 |
|
|
|
|
17 |
68791166 |
0.28 |
0.32 |
0.49 |
0.36 |
hCV2587450 |
CCTCCTTCTAGTCTCTCACCTTCCATCTGCCATGAATGAA[A/G]CAACTGCCAGGCAGAGAGACTGGTCATTGCCATTGGTCTG |
G |
G |
C___2587503_10 |
rs236555 |
|
|
|
|
17 |
68845783 |
0.28 |
0.37 |
0.32 |
0.19 |
hCV2587503 |
TTTTTCTATTTGGTAATATTGGGCTGCTGAAGAAAATTCA[T/C]GATCAAACTGATTGCCTCTTTTTCAAATTATAAGTATTGC |
T |
T |
C__11942061_10 |
rs1872599 |
|
|
|
|
17 |
69191355 |
|
|
0.2 |
0.05 |
hCV11942061 |
CACTAGACATCTGTATTTACATGCTGAGGGATTATGTCTT[T/A]GTTTCTATATCCAAAGTTAGGGTTGTAATTATTATACATA |
T |
T |
C__11889323_10 |
rs1981647 |
|
|
|
|
17 |
69218316 |
0.49 |
0.24 |
0.36 |
0.26 |
hCV11889323 |
ACTGAAGCTGTGGCCAAAATCAGAGAACAAAGGGGTTTAG[T/C]GGATCTGATATGATGCATGAACAATGTCTAACATGGGTGC |
C |
C |
C___2274247_10 |
rs717419 |
|
|
|
|
17 |
69315311 |
0.46 |
0.15 |
0.46 |
0.41 |
hCV2274247 |
TGAAACGAAACTCACATAAGATCATTTCAAATTCAAAAGA[C/T]ACTGGCTCCTCTGCTCCAGTGGAGAAGGGGAACTAGGTAT |
C |
C |
C___2682492_10 |
rs929647 |
|
|
|
|
17 |
69401894 |
0.27 |
0.12 |
0.12 |
0.08 |
hCV2682492 |
GTTGATGACCTTGCCCAGACTTCATAGTTCGTAGCCTAAG[T/C]CCTGGAAGTCCCAGAGAGATATGACCTGGTCTGGTCAAGA |
C |
C |
C___1388956_10 |
rs1558832 |
|
|
|
|
17 |
69619711 |
|
|
0.14 |
0.27 |
hCV1388956 |
CAGATACGGGTTCATGTCCCTGAATTTCCAGGTACTAGTT[T/C]TGCAAATTTGGAGGAGTTGTTCAAGCTCTCTTGATTTTAT |
C |
C |
C___1388970_10 |
|
|
|
|
|
17 |
69631435 |
0.44 |
0.37 |
0.14 |
0.23 |
hCV1388970 |
TTTGTGAAACCCATAGTTTCATGGGCAGATTGAGGTTCTA[T/C]AGAGAGATCTGTATTGCCATGGAAGGATGCGCTGATGTGA |
T |
T |
C___2268551_10 |
rs757996 |
|
|
|
|
17 |
70486309 |
0.49 |
0.38 |
0.32 |
0.37 |
hCV2268551 |
TGAAGTTAAACAAGTTTGCAAATAAACAGTGAAACAAAGT[G/A]GTTTCATCACAGGGTATCAGAGTAACCCACGGAGCACATC |
A |
A |
C___7565773_1_ |
rs1047956 |
IMS-JST059102 |
|
|
|
17 |
70664435 |
0.22 |
0.48 |
0.04 |
0.06 |
hCV7565773 |
AGATTTCAGCCACTTTACGGGAAAAAGAGACACATCGAAA[T/A]CTTGATCCTGGGACTTGCAACCCCACCGTGGCACTTCTCC |
T |
T |
C__11933794_1_ |
rs1047955 |
IMS-JST037912 |
|
|
|
17 |
70677205 |
0.3 |
0.32 |
0.41 |
0.26 |
hCV11933794 |
CACACCTTGAGGAATGTCCTGGAGGAATCGCTTGGCAATC[T/A]TCAGACGAGAAATGCTCATGGTAAATTGTGGATTTCTTCT |
A |
A |
C___2683620_1_ |
rs2287131 |
IMS-JST037910 |
|
|
|
17 |
70703350 |
0.37 |
0.39 |
0.19 |
0.2 |
hCV2683620 |
AAATCCCAGCACATAGCGGAGTAAAATAAAGTAACGATCA[T/C]TGTGAAACAAACTCAACCCACACACCATTCCTACAAACCC |
T |
T |
C___2683619_1_ |
rs1477066 |
IMS-JST037909 |
|
|
|
17 |
70703551 |
0.47 |
0.49 |
0.5 |
0.39 |
hCV2683619 |
GAGAGGGGAAGAGATAAAATCAGAGATGCACTTCACAAAA[C/T]AGTGGAGTCCCAGTCTGTCCACGTGACCCAAAAAAGAGTG |
C |
T |
C___2683606_10 |
rs1042678 |
|
SRY
(sex determining region Y)-box 9 (campomelic dysplasia, autosomal
sex-reversal) |
SOX9 |
UTR
3 |
17 |
70719231 |
0.36 |
0.08 |
0.43 |
0.49 |
hCV2683606 |
ACACAAAAACAATGCAAGCATGTGTCATCCATATTTCTCT[A/G]CATCTTCTCTTGGAGTGAGGGAGGCTACCTGGAGGGGATC |
G |
G |
C___2687056_10 |
|
|
|
|
|
17 |
71006548 |
0.24 |
0.06 |
0.06 |
0.03 |
hCV2687056 |
GGGCTGGTGGCCTCTGATCTACAGAAAGGTAATTGCCAAC[A/G]GGCCAGCTTGTGCACACACAGCCACACACGCAACCCAAGG |
A |
A |
C___2687034_1_ |
rs2302740 |
IMS-JST059189 |
|
|
|
17 |
71021768 |
0.42 |
0.24 |
0.21 |
0.26 |
hCV2687034 |
AAAAAGGGGAGTAATTCATTTCCTATCCCAATTATGGATA[T/C]AGCAGACTGAAGAATATTTTCAAAGAAATACAGTTTATTA |
T |
T |
C___2687027_10 |
rs1406173 |
|
|
|
|
17 |
71022998 |
0.41 |
0.23 |
0.23 |
0.31 |
hCV2687027 |
TCCAATAAACTCATTCAAGCTAAAGCCCAGCTGAATGGAC[A/G]TAGCTTCAGTGTTACCCCTCCATGGGGGATGTGCATTTTA |
A |
A |
C___2687023_10 |
rs741403 |
|
|
|
|
17 |
71023790 |
0.42 |
0.23 |
0.23 |
0.3 |
hCV2687023 |
CCACCTTGTACCCTGAAGTGCACCTGGATCACTGCATTCA[A/G]CACAATGGTTTGTTTCTGCTCTGGTCCTTAAAGGGAGTAG |
G |
G |
C___2687011_10 |
|
|
|
|
|
17 |
71028619 |
0.3 |
0.27 |
0.11 |
0.22 |
hCV2687011 |
GGGAGCAGAGGGCGAGCTCCACGACAGCCTGCAGAGGCCA[C/T]GCCAGAAATATGGGGTCTGCAGCCCCACATGAGCCCAGGA |
C |
C |
C___2687003_10 |
|
|
|
|
|
17 |
71037527 |
0.37 |
0.07 |
0.27 |
0.36 |
hCV2687003 |
ATAAATAAATACTCCATAATCCCACAGCTCTGAGCATGCT[A/G]TAAGTCTGAGAGGTAAATAATCAGGTTTCAATGTTAAATG |
A |
A |
C___2666786_10 |
|
|
|
|
|
17 |
71052633 |
|
|
0.09 |
0.1 |
hCV2666786 |
GTGGACTGAGGCTTTAACCAGATTTGCTCGTTCCAAAGCC[T/C]ATACGGCTACCCCCTCTACATGCTGCTTCCCTATAAGCAA |
T |
T |
C____343187_10 |
rs887802 |
|
|
|
|
17 |
71088186 |
0.49 |
0.29 |
0.17 |
0.04 |
hCV343187 |
TCAATAAATTACTATGTGTTCAATAAGCATTAGCTACATA[T/C]CAGACACTTGACATCATGAACAAATGTAATTCTCGCAGCA |
T |
T |
C___2666845_10 |
rs735503 |
|
|
|
|
17 |
71096189 |
0.49 |
0.21 |
0.47 |
0.38 |
hCV2666845 |
CCTGAACAAGAAGCAAAGTCAGGACTGGTTTGGCCAGGTA[C/G]GTGAGGATCCAGTGTTGGGTGATTCTGATCCATGCAGCCC |
G |
G |
C____341342_10 |
rs917872 |
|
|
|
|
17 |
71167617 |
0.35 |
0.22 |
0.4 |
0.41 |
hCV341342 |
CTGGCTTCTCTCATTTGCTCTTCCCTGTCCCCCAAAACCT[A/T]CCAGCTTAACCCTCCTTTGTGCCATGTCACTGGTGCCTGT |
A |
A |
C____456916_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71245162 |
|
|
0.19 |
0.38 |
hCV456916 |
CACAAACTTGGGTGATATAGACAGGGATTTGGGTAGACTC[A/G]TGGGAAATGCTGAGTGATGCAGCTTTTGTGGACATGTCCT |
T |
T |
C____453965_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71249071 |
0.09 |
0.14 |
0.11 |
0.02 |
hCV453965 |
ACTGAGAGACTATCCCTGCCACGGGGTCCTCAATATTCTC[C/T]GTCACTTCTGTTATGCATCCATATCCCCGAATACCACCTG |
G |
G |
C__11616497_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71259224 |
0.28 |
0.19 |
0.5 |
0.44 |
hCV11616497 |
CACACATGTCTGTTTCATTGCTGTATGCACCTGGCATTTG[A/T]CTATGTGCTTGGGATAAATCAGTGAACAGAGAATCCTAGC |
A |
T |
C__11616468_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71282435 |
0.41 |
0.44 |
0.29 |
0.34 |
hCV11616468 |
GAACCACTTATTAACGCTCTAGCATGAAACTGAGTACAGT[C/T]GAGCATCGGGCCAGCCACCTACAAGGCTGTCACTGTGCAG |
G |
G |
C___2067793_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71293481 |
0.26 |
0.41 |
0.42 |
0.4 |
hCV2067793 |
AAATAAAATTGCAGTCAAGTTCTTTGTCCTGGTAGAATGC[A/C]GTAGAACAAGCACAGGATGTGAAATACGGATTTTAACAAA |
G |
G |
C___2067789_10 |
rs2567487 |
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71299490 |
|
|
0.23 |
0.33 |
hCV2067789 |
AACCAGTCCAGACAAACCGCAGAGACTCAAGTTTCTAAAT[A/G]CATCTAGAAGAGATTGTTTCAGGGAAGTGCACAAATGAGA |
T |
T |
C___2067783_10 |
rs2713961 |
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71305624 |
0.21 |
0.43 |
0.19 |
0.28 |
hCV2067783 |
TTCTTTGGTCTTTCAAGATGGAGTGAGAACTGGCCTCTAG[C/T]GTTTGGTAAATACCTTACGCTGCCCAGCAAGGTTGACTGT |
G |
G |
C__11616449_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71313486 |
0.38 |
0.16 |
0.15 |
0.13 |
hCV11616449 |
CTGACTTCGTCATCTTATCACAGCATGGACTGTGCATGCT[C/T]ATGAGCCCTGGCCCTGGTACTGCCCAGCCCTTGTCCCCAG |
A |
A |
C__11413286_10 |
rs1864685 |
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71318905 |
0.38 |
0.11 |
0.02 |
0.06 |
hCV11413286 |
CAGCGGTGGACAGACGGCGCCACCACGCGGTAGCTTGGTA[T/G]CATAGGTTGCTAGACACAGTACCAGAAGGAAAAAGTTTGA |
A |
A |
C___2067773_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71323367 |
0.1 |
0.12 |
0.03 |
0.07 |
hCV2067773 |
ATTAAGTTAACAAAATGCATGCAGTGGACATATATAAACT[C/G]TAGCCCAGTCATTAGAAAGCTTACGTTCATTTCAAGCCAC |
G |
G |
C___2067764_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71332348 |
|
|
0.02 |
0.07 |
hCV2067764 |
GAAATTCTCAACCTGCAGCTTACAGTGATCACAGCTATCC[A/C]ATCAGGACCCCGCAGGAGATCAAGCACAAAAGGTAAAATT |
T |
T |
C__11616441_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71335746 |
0.21 |
0.13 |
0.28 |
0.44 |
hCV11616441 |
AAGATCTGTGCCTTGCAGACCCACCGTTACTGATGGTCTC[C/G]GGTGTGTTAGTGCCAAACAAGGTTGAGAACAGCAGGCTTG |
C |
C |
C___2067742_10 |
rs2859523 |
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71364094 |
0.07 |
0.13 |
0.48 |
0.3 |
hCV2067742 |
CCATCAGCAGGAGCTTATTACACATGTATTGAATGACTAA[C/T]ATGGGCTGTCAACTGTAAGCCCTGACAAATTCGAAGGTGT |
A |
A |
C__15905965_10 |
rs2567534 |
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71367482 |
0.37 |
0.35 |
0.31 |
0.35 |
hCV15905965 |
CACCTTGAGTCCCTGCAAGGGCCATGAGCCTGTCTGCTCC[G/C]TGCCTTCCTCCCTGCTTCTGGTTCCAGCTGTCCATTATAC |
G |
G |
C___2067718_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71379286 |
|
|
0.33 |
0.36 |
hCV2067718 |
TCGGTTTCTGATAATTTGGCCCATTGTGATCCAGAGATGT[C/T]GGGGAGGGAATCTCATCTGTCAAGGTGAAGAAAATGAATA |
A |
A |
C__11416513_10 |
rs2033409 |
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71440265 |
0.18 |
0.26 |
0.11 |
0.09 |
hCV11416513 |
GATGGCCAAAGTGGGTTAGCCTTGGTGGAAGACCCTGCTC[G/A]TGCCCACCCCGTATCTTAAAGAGGTCATTGAAAGACCCCT |
C |
C |
C___2067650_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71449745 |
0.47 |
0.08 |
0.27 |
0.36 |
hCV2067650 |
CTTGGCCAAGTGGATACGTCTGTCTGATGTATAATAATAC[C/T]TGCTACTCCCAGCTAGGTCTCATTGACAAACCTAAGCGGA |
A |
A |
C____482305_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71481775 |
|
|
0.4 |
0.42 |
hCV482305 |
AAAAGGCCTTCTGGAACCTCTTCCCTGACCTAAATAGAGA[T/C]GCTTCTAAACATTTTAGAAGGCATGATCTTTTCAGAGTCC |
C |
C |
C____137331_10 |
rs3606 |
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71506578 |
0.33 |
0.2 |
0.27 |
0.34 |
hCV137331 |
CACTGTCATAAGTGGAACAAAGGATGAAGCTAATCATGGA[A/G]GCAAGCTCCCTGGAGAGACAGGGACAAAATCAAGAATGAG |
A |
A |
C___7952127_10 |
rs2466515 |
|
solute
carrier family 39 (metal ion transporter), member 11|chromosome 17 open
reading frame 26 |
SLC39A11|C17orf26 |
Intron |
17 |
71535743 |
0.38 |
0.2 |
0.48 |
0.47 |
hCV7952127 |
AGAAATTCTGAGTGTTTATAACTAGGTTTCCGAAATAATG[C/T]GTTTGGGGAAGTCTCTGAGATGTTATTAATTTTGACTTTT |
G |
G |
C___7454594_10 |
rs1552844 |
|
solute
carrier family 39 (metal ion transporter), member 11|chromosome 17 open
reading frame 26 |
SLC39A11|C17orf26 |
Intron |
17 |
71538103 |
|
|
0.5 |
0.5 |
hCV7454594 |
CCTGACCCATTGTTCTGTATCATATGTTTTTGCACTTAAC[A/G]GTACCCTTGGGTGTTTTTTTCCTGAGGTGCTCATAGATCC |
C |
C |
C___7454658_10 |
rs903098 |
|
solute
carrier family 39 (metal ion transporter), member 11|chromosome 17 open
reading frame 26 |
SLC39A11|C17orf26 |
Intron |
17 |
71565388 |
0.01 |
0.15 |
0.05 |
0.17 |
hCV7454658 |
GATATGCTTTTATTCACTTATTTAGATTTGAGTGGCTGTG[A/G]TTTTGTTACAGCAACGTTGAGACCGTTTTTCTTTCTCCTT |
T |
T |
C___1185656_10 |
|
|
solute
carrier family 39 (metal ion transporter), member 11|chromosome 17 open
reading frame 26 |
SLC39A11|C17orf26 |
Intron |
17 |
71573010 |
|
|
0.37 |
0.47 |
hCV1185656 |
CATCATCTGAGGTCTTGGTTTTCCAGCATGCTACCTGTTA[G/T]AGGCAAGATTTGTTTTGGGGTCCTGTGTTGGAGGGAGGTG |
A |
A |
C__11613860_10 |
|
|
solute
carrier family 39 (metal ion transporter), member 11|chromosome 17 open
reading frame 26 |
SLC39A11|C17orf26 |
Intron |
17 |
71598063 |
0.1 |
0.23 |
0.23 |
0.27 |
hCV11613860 |
ATATTCCCAAGGGAATGGGCCAGAAAGCTCTGCCCATAAC[A/G]TCGTGCCCTAGGACCACAGTCCATCTTTGCCCCATTGCCT |
C |
C |
C___7454577_10 |
rs903104 |
|
solute
carrier family 39 (metal ion transporter), member 11|chromosome 17 open
reading frame 26 |
SLC39A11|C17orf26 |
Intron |
17 |
71621825 |
0.14 |
0.46 |
0.32 |
0.16 |
hCV7454577 |
GTTCTAGGAGATTTAAAAAGAAATGAATTCTTGCTGTCGA[C/T]GTGAGAGGGGGAATTTGTCTTAGAAGGTCTCATACATGGA |
A |
A |
C___7454415_10 |
rs903099 |
|
solute
carrier family 39 (metal ion transporter), member 11|chromosome 17 open
reading frame 26 |
SLC39A11|C17orf26 |
Intron |
17 |
71638561 |
|
|
0.08 |
0.11 |
hCV7454415 |
AAATTTGAAACCCAGGTATGTCTTGGATGGTTGCCTTGCT[G/T]TATGGAACTTATTACTGTCTAGGACTTCACCTGGGGGACC |
C |
C |
C___7454422_10 |
rs903103 |
|
solute
carrier family 39 (metal ion transporter), member 11|chromosome 17 open
reading frame 26 |
SLC39A11|C17orf26 |
Intron |
17 |
71639607 |
|
|
0.33 |
0.37 |
hCV7454422 |
CAGGAATCATGGCCACCATACGCATGGGAGACTGCTGCAT[C/G]CCTCTGGTGAATTAGGACAGAATACACTTTCAGAACCTGT |
C |
C |
C___7454649_10 |
rs903107 |
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71659057 |
0.48 |
0.45 |
0.11 |
0.08 |
hCV7454649 |
TACAAACAGAGAACACATTAGGCTTAACTGGGGCTTCAAA[T/C]TTTTTCCACCAATGTTTAAGTTAGTAAACTGAATAGACAC |
C |
C |
C___3260124_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71686302 |
0.15 |
0.08 |
0.22 |
0.2 |
hCV3260124 |
TGTGTGTGTGTTGCGGGAGAGGCTGGGGGCGGGTAATGTG[A/G]TGGCATCGGCATCATTCTCCAGTCAATGACCCTCAAAAGA |
G |
G |
C___3260125_10 |
|
|
chromosome
17 open reading frame 26 |
C17orf26 |
|
17 |
71687555 |
0.16 |
0.07 |
0.08 |
0.1 |
hCV3260125 |
AGCACTCCATGGGGAGGAGAAGACAGCCTGGCCACTGGAG[C/G]GTGGTCTTTGCCCTTAAAAGACCCCCAACTTGGAAGAGTC |
C |
C |
C___2167500_10 |
|
|
somatostatin
receptor 2 |
SSTR2 |
|
17 |
71760792 |
0.42 |
0.15 |
0 |
0.09 |
hCV2167500 |
ACCAGGAAAAGGACCTAGCTCAGGGGAAATGTGTCAGCCA[A/G]GTGAATTAGTCCCACTCTGCTGAACACACCACCCTTTGAA |
G |
G |
C___2167503_10 |
rs998571 |
|
somatostatin
receptor 2 |
SSTR2 |
|
17 |
71762415 |
0.4 |
0.19 |
0.07 |
0.08 |
hCV2167503 |
TAATACATTTTTCAATTTAAGAGTATGTCTGAGAGGCTAA[G/A]CCAGAAATGTGTAAATTTGGTGAGAGTTTAAACAGCCTGT |
G |
G |
C___1078920_10 |
rs753283 |
|
component
of oligomeric golgi complex 1|somatostatin receptor 2 |
COG1|SSTR2 |
|
17 |
71776732 |
0.21 |
0.49 |
0.15 |
0.13 |
hCV1078920 |
TGGTCATTTTCTTTCTCTCATTTAAGAATTGTAGGGTAAC[G/A]CGTAGTTGGAATATTTACGGATTTTTTTTTTTTAGCATAT |
A |
A |
C___2167527_10 |
|
|
component
of oligomeric golgi complex 1 |
COG1 |
|
17 |
71781115 |
0.49 |
0.49 |
0.42 |
0.35 |
hCV2167527 |
TCTCCCATTTATTTTCTCTTCTCCAGGTATCCCCAGCTTT[A/T]ATTCCCTCCTAAGTTTATCAGAGAATGACCCTTCGTCCAA |
A |
A |
C___2167538_10 |
rs1052705 |
|
component
of oligomeric golgi complex 1 |
COG1 |
Intron |
17 |
71789591 |
|
|
0.42 |
0.38 |
hCV2167538 |
AAATGCACGCGTGTGTAGGAAAAACCATGGGATCTTACAA[T/C]ACTCCTGACTCTGGCAACTCTTCTACACTGGGCTTTGATG |
C |
C |
C___7454567_1_ |
rs1026128 |
IMS-JST026242 |
component
of oligomeric golgi complex 1|hypothetical protein FLJ14775 |
COG1|FLJ14775 |
Mis-sense
Mutation |
17 |
71793932 |
0.5 |
0.46 |
0.42 |
0.37 |
hCV7454567 |
CTCGCGGGAATCCGGGACGCCATGTGGGAGTTACTTACCA[A/G]TGAGTCCACCAATCACAGCTGGGATGTGCTATGTCGGCGG |
A |
A |
C___7454563_1_ |
rs1026129 |
IMS-JST026243 |
component
of oligomeric golgi complex 1|hypothetical protein FLJ14775 |
COG1|FLJ14775 |
Intron |
17 |
71794118 |
0.49 |
0.46 |
0.42 |
0.37 |
hCV7454563 |
AATCCTAGTGGTATTTTGACTGTCTTGGGAGATTTCTGTC[A/G]CTTCCCAAGTATATTCTTTTCCTGCTTAGTAACAGATCCA |
G |
G |
C___2167549_1_ |
rs1037256 |
IMS-JST014055 |
component
of oligomeric golgi complex 1|hypothetical protein FLJ14775 |
COG1|FLJ14775 |
Silent
Mutation |
17 |
71794871 |
0.49 |
0.48 |
0.42 |
0.37 |
hCV2167549 |
TCGTGGACTGCATCCGGGCAGAGCTACAGAGCATTGAAGA[G/A]GGTGTGCAAGGGCAACAGGATGCCCTCAACAGTGCCAAGC |
G |
G |
C___2167568_10 |
|
|
component
of oligomeric golgi complex 1|hypothetical protein FLJ14775 |
COG1|FLJ14775 |
Intron |
17 |
71811710 |
0.19 |
0.48 |
0.16 |
0.15 |
hCV2167568 |
TATAAGGTGAAACTGGACCACACAATGTGTTTAAAGTTCC[T/C]TCTGAATGGAAATACTGTATTATTAGTATCACTTCACTTT |
T |
T |
C__11613847_10 |
|
|
hypothetical
protein FLJ14775|lung cancer-related protein 8|hypothetical protein FLJ20721 |
FLJ14775|HLC-8|FLJ20721 |
Intron |
17 |
71821090 |
0.5 |
0.38 |
0.42 |
0.38 |
hCV11613847 |
ACTAGATTGTTACTATGAGATGATAGCATAAGCTGCTTAA[A/T]ATTTCCAGGTTTAAAGAAAAATCACACATCTTTCTTAGGC |
A |
A |
C___3260174_1_ |
|
|
hypothetical
protein FLJ14775|lung cancer-related protein 8|hypothetical protein FLJ20721 |
FLJ14775|HLC-8|FLJ20721 |
|
17 |
71825890 |
0.48 |
0.41 |
0.37 |
0.36 |
hCV3260174 |
ACAGGCGGACCTATCCGGCAGTGGTGCAGACGGCCTGACG[A/C]GGTTCCTTGGCCGGGGGTTGGGCAGGGGCCTGGGGGGCTT |
A |
A |
C___1452534_10 |
rs966939 |
|
hypothetical
protein FLJ14775|lung cancer-related protein 8|hypothetical protein FLJ20721 |
FLJ14775|HLC-8|FLJ20721 |
Intron |
17 |
71830859 |
|
|
0.37 |
0.33 |
hCV1452534 |
TGAAAGCAGTTGAGTTTCTGCCTTGAGAAGAGGCATGTCC[A/G]GTAGAAACTGGATGGGTAAACAGACTGGAGAAAAATATAA |
A |
A |
C___1452517_10 |
|
|
hypothetical
protein FLJ14775|lung cancer-related protein 8|hypothetical protein FLJ20721 |
FLJ14775|HLC-8|FLJ20721 |
Mis-sense
Mutation |
17 |
71835556 |
0.48 |
0.41 |
0.36 |
0.37 |
hCV1452517 |
GGAACGAAGCTCAACTCATATAAGGAGTTTGGAACCCCCT[A/G]CCGGACTTACAACCTCCAACTTCTCTCTAATGAGGCTCTT |
G |
G |
C___1452511_1_ |
rs1566290 |
IMS-JST065342 |
lung
cancer-related protein 8|hypothetical protein FLJ20721 |
HLC-8|FLJ20721 |
Silent
Mutation |
17 |
71836210 |
0.38 |
0.08 |
0.17 |
0.17 |
hCV1452511 |
GCAACACCACCATAAGGAAGAGTGGATTCGGTGGCATCAC[G/T]ATGCTCTTCACAGGATACTTCGTCCTGTGTTGTAGCTGGA |
T |
T |
C___7454532_10 |
rs1472454 |
|
lung
cancer-related protein 8|hypothetical protein FLJ20721 |
HLC-8|FLJ20721 |
|
17 |
71841289 |
0.2 |
0.38 |
0.17 |
0.16 |
hCV7454532 |
CTTAATGTTCAGAATAGTTTAAGAGCGTTGTTGAGGTAAA[G/C]TGATAGCTGATTATTTTCTGAGATTTAGATCTAAACAAAC |
C |
C |
C___7454531_10 |
|
|
lung
cancer-related protein 8|hypothetical protein FLJ20721 |
HLC-8|FLJ20721 |
|
17 |
71841753 |
0.2 |
0.47 |
0.17 |
0.16 |
hCV7454531 |
CTGTCTGTGGCATTGGAGTGCCCCGCTAGGTAAGAAGCAA[C/T]GCTTAGATCTTGCTTCCAGGCAGCAGCTTGAATTCCCGAA |
C |
C |
C___1452486_10 |
|
|
|
|
|
17 |
71856680 |
0.23 |
0.09 |
0.2 |
0.2 |
hCV1452486 |
CCCCATCAAGGAGGGGACATTAGCCATTCACACAATAATG[T/C]GATGGAGGCATGAGGGGCCCAGCAGGGCAGGAAGGGGTAG |
T |
T |
C___1452455_10 |
|
|
CDC42
effector protein (Rho GTPase binding) 4 |
CDC42EP4 |
Intron |
17 |
71885152 |
0.33 |
0.37 |
0.37 |
0.25 |
hCV1452455 |
CGAGGAGCCCTCCCCAGAAGGTCAGGCCCCTGCTTGGGTC[A/G]CAGCAACCACACCTTTAGTTCAGCCCTGTTCCTGAGACTA |
G |
G |
C__11613768_10 |
|
|
CDC42
effector protein (Rho GTPase binding) 4 |
CDC42EP4 |
Intron |
17 |
71897275 |
0.07 |
0.04 |
0.07 |
0 |
hCV11613768 |
TAAGGAGTCTAGTCTAGTTTAAATGGTGACTCATTATCAA[T/G]AACACTCCGGAATAACATCTCTCCATGTGGATCCCAACAG |
T |
T |
C__11412406_10 |
rs1122340 |
|
CDC42
effector protein (Rho GTPase binding) 4 |
CDC42EP4 |
|
17 |
71908472 |
|
|
0.33 |
0.21 |
hCV11412406 |
ATCCATATCTATTAAGCACACCTCCGGGACAAAGTCTTTA[T/G]GTCCCTTTGTAATTCTGCTCCTTACCCAAATTCAGGCTCC |
G |
G |
C___1452414_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
|
17 |
71927601 |
0.28 |
0.13 |
0.17 |
0.08 |
hCV1452414 |
TCTGGGGAATGAACTGCTTGGGTATGATACTGGGACAGGT[G/T]ACCCCATTCATGTAACAGGAAGGAAAAGAATGTTGCTTCA |
T |
T |
C___1452401_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
Intron |
17 |
71944150 |
|
|
0.13 |
0.12 |
hCV1452401 |
CCTGCTCCAGTTGGGACCCTACTAACTGCTACAATCTATG[A/G]GAAGGCAGGGTCTGTACCCTCCGAATGAGGCAGAACCTCT |
A |
A |
C___1452391_1_ |
rs2279730 |
IMS-JST027582 |
sidekick
homolog 2 (chicken) |
SDK2 |
Intron |
17 |
71951108 |
0.43 |
0.48 |
0.28 |
0.26 |
hCV1452391 |
CCGGCTTCCTGAGCAATCCTCAACCCAAGCTGGTCCTCAG[C/T]TAGCACTAACAGCCGTTCTCTGGGGGCCTCCTGGGGGTTA |
C |
C |
C__15958340_10 |
rs2270725 |
|
sidekick
homolog 2 (chicken) |
SDK2 |
Intron |
17 |
71961542 |
|
|
0.18 |
0.28 |
hCV15958340 |
TCTCCCACTTGGGAGGGTGTCTCTGGGGACCTGGGTACCA[A/C]GACCAGATCCTCAGGCGGATAAGGCAGCTGCCCCCATGCC |
A |
A |
C___1452373_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
Intron |
17 |
71969785 |
0.22 |
0.17 |
0.17 |
0.25 |
hCV1452373 |
TAATGCGTCACTGATGTTCGTGCGTGTTGATGTCAGTACC[C/T]TGGTTATCACAGGTCCAGGAGGTAGCACTTTCTCCGTTCA |
C |
C |
C___1452359_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
Intron |
17 |
71976712 |
0.33 |
0.27 |
0.41 |
0.49 |
hCV1452359 |
CTAGGGGTGTGACCAGGTGAGGCTTCTGGTCCCTCAAGGG[A/C]AGGGTGCTCCTTCTCATGCACCGGGCTGTCCCCGTCCCTT |
A |
A |
C___1452346_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
Intron |
17 |
71989874 |
0.47 |
0.33 |
0.2 |
0.15 |
hCV1452346 |
TGGTGCGTGGTCCATTACCTTTCCTCAGCAGGTAAAGGAA[C/T]TTGCACTTAAGCCCCATCTCCGGCTCTCAGGACCATCGAT |
A |
A |
C___1452333_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
Intron |
17 |
72004365 |
0.28 |
0.21 |
0.32 |
0.24 |
hCV1452333 |
CCTCTGCCTCCCCCCAGGGTCCCAATTAGGAGAGTTTTCC[A/G]GCAGCGAGTGCTCCAAGAATTCAGCTGCTGCTCCCTGCCC |
A |
A |
C___1452323_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
Intron |
17 |
72012209 |
0.26 |
0.43 |
0.17 |
0.23 |
hCV1452323 |
AGGCCTGTTCCTATGTCAGCCCATATAGCCTCCCCTCTCA[A/C]GCATTCCTCGCTGGTGTCCAGGGGTCTTGCCACTGGAAGT |
A |
A |
C___1452307_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
Intron |
17 |
72030879 |
0.27 |
0.41 |
0.47 |
0.27 |
hCV1452307 |
GCCTGTTTGTTTCCTGGGGTGCCTGCTCAGACAGCCAGAC[A/T]GACTCTCTGCCTAGTGACATGGTCTCGAGAAGAAGCTGGA |
A |
T |
C__11625271_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
|
17 |
72032159 |
0.31 |
0.17 |
0.17 |
0.25 |
hCV11625271 |
CATGGAAAAGGAGTTCTGTGGCCGCATACGTCTGGGAAAC[A/T]GCGGCTTGAGTGACAGTAGCTTGAGGTGACGCTGGGCAGT |
T |
T |
C__11614005_10 |
|
|
sidekick
homolog 2 (chicken) |
SDK2 |
|
17 |
72045461 |
0.06 |
0.28 |
0.27 |
0.47 |
hCV11614005 |
GAATCTTGTCTCCTTTGCAACAATGAGCACCGGGGCATGC[A/G]TGAGGTGGTGCTAATCTCTGCTCTTGCCCCACCAGTGAGA |
G |
A |
C____231488_10 |
|
|
|
|
|
17 |
72058498 |
0.43 |
0.37 |
0.17 |
0.16 |
hCV231488 |
TGGGAGGCTGGCCAGCTTCCTTCCTACCAAGCAGCTTAGC[T/A]GCCACTCCTACAAAAGACAATTGGAGGGGAACAAGCCCGC |
A |
A |
C__11418175_10 |
rs1872076 |
|
|
|
|
17 |
72085262 |
0.31 |
0.4 |
0.45 |
0.39 |
hCV11418175 |
ACAAGGACCACATTCTGTCAATGAAAGCGAGGCATGAAGC[T/C]GGCCCAGATTTCGGGAGTGGGGAAATGGACTCCACATCCT |
G |
A |
C___1951060_10 |
|
|
|
|
|
17 |
72087056 |
0.25 |
0.38 |
0.28 |
0.19 |
hCV1951060 |
TCTCTCAAAAGCACCCTGTGTGCCCATGCACAGCTCTGGA[C/T]GTCCATCCATAGTCCACAGAGCATGACCCCACACACAGCC |
A |
A |
C___1951058_10 |
rs1872078 |
|
|
|
|
17 |
72087371 |
0.25 |
0.16 |
0.42 |
0.45 |
hCV1951058 |
GATCAGAGGCAAAGGTGCCAACATCAATTTCACTCAGTGT[T/C]ATTTCCCTGGTCAGGCTGGGCCCCTGGGAACAGGAGAGGG |
A |
G |
C_____66608_10 |
|
|
|
|
|
17 |
72098381 |
0.22 |
0.42 |
0.48 |
0.49 |
hCV66608 |
CACCCAACATAGCTATAAAATGGAGTATCTGCATTCTCCC[G/T]ATTGCTTTGTTTTCTAGAATTTGCAGAGCAGTTAGCCGAA |
T |
G |
C___1951109_10 |
|
|
|
|
|
17 |
72110008 |
0.39 |
0.3 |
0.5 |
0.42 |
hCV1951109 |
CTTCAGGAACCAGGCACCTTCTGACGTTGGGAGCCTGGGA[C/T]GGTGCAATCATCAATTACGCCGTGGCCTCCGCAGCTGTTC |
C |
C |
C___7459665_1_ |
rs790086 |
IMS-JST027915 |
|
|
|
17 |
72185148 |
0.16 |
0.15 |
0.26 |
0.26 |
hCV7459665 |
GGCTGTCAGGAAGCCTCCTCATCTTCAAAGAGCATCAAGC[A/T]CTAAAACGGTAAGAGTGGCCAGGTCTGGAGTGCAGCGGAG |
T |
T |
C___7459660_1_ |
rs790089 |
IMS-JST027912 |
|
|
|
17 |
72185709 |
0.34 |
0.49 |
0.26 |
0.26 |
hCV7459660 |
AGAACCCAGCCAAAGAGGGAGTGTGGGAGGGAAAGAGTCT[G/C]CAGCTTTTTATTTTTTAAGCAGGCCAACCACATGGAGGTG |
G |
G |
C___7459577_10 |
rs899593 |
|
hypothetical
protein FLJ40319|hypothetical protein FLJ40319 |
FLJ40319|FLJ40319 |
Intron |
17 |
72346613 |
0.05 |
0.07 |
0.11 |
0.16 |
hCV7459577 |
TCACTGGGAGGGACGGACCCGGAGACCAGTCCTGACCCCA[A/G]ATTCTGAGCTGTGGAGCCCGGGGCAGCGGATTTGTTGCCT |
A |
A |
C___7459478_10 |
rs922560 |
|
|
|
|
17 |
72447553 |
0.23 |
0.18 |
0.21 |
0.1 |
hCV7459478 |
AGGCAAGGCCCAGCCCCAGCGCAGTGCCTAGCTCAAGGCC[A/G]ATAACCATGTTGAACCCCAAGCAGCACACTTGGGACTGAG |
A |
A |
C___7953502_10 |
|
|
ribosomal
protein L38|tweety homolog 2 (Drosophila) |
RPL38|TTYH2 |
Intron |
17 |
72806981 |
0.3 |
0.07 |
0.33 |
0.15 |
hCV7953502 |
ACAGCACCTTCAGCCCCGGCGACGAGAGTTACCAGGAGGT[A/G]AGTTTACGCCGCCCCAGACCGCAGCCACGCGCGCCCCAAG |
A |
A |
C___1875729_10 |
|
|
tweety
homolog 2 (Drosophila)|ribosomal protein L38 |
TTYH2|RPL38 |
Intron |
17 |
72830041 |
0.37 |
0.36 |
0.1 |
0.08 |
hCV1875729 |
GCCAGGTCAGGGACTGCCCCCTGGTTTGAGGGACATGAGG[A/G]CTGGGTGGGTAGTGGCGGCCTCTGTCTTCAGTCCTTCCTC |
G |
G |
C____331893_10 |
|
|
tweety
homolog 2 (Drosophila)|ribosomal protein L38 |
TTYH2|RPL38 |
Silent
Mutation |
17 |
72843224 |
|
|
0.12 |
0.08 |
hCV331893 |
CTTTCCTGGCTCAGACCCTGACCACCTTCCAGCGCGCACT[T/C]ACCACCATGCAGATCCAGGTCGCGGGGCTGCTGCAGTTTG |
C |
C |
C___1875697_10 |
|
|
tweety
homolog 2 (Drosophila)|ribosomal protein L38 |
TTYH2|RPL38 |
Intron |
17 |
72853227 |
|
|
0.07 |
0.02 |
hCV1875697 |
TGGACATTGGAGGACAGCTGGTCTGTGTGTGCATTTTTTA[T/G]TTGAGGCTGGGAGGCAGAAGTCTTGATGGATGTGGGGTGG |
G |
G |
C___1875722_10 |
|
|
dynein,
axonemal, intermediate polypeptide 2 |
DNAI2 |
Intron |
17 |
72882147 |
0.4 |
0.44 |
0.19 |
0.15 |
hCV1875722 |
AGGCTGGAATAGAGCAGCTGGGGAAATGCGGAGGGGAAGC[T/C]TGTGGACCTGGGGCAGAGGACAGACCTTGGGTCTGGGTGA |
T |
T |
C___1875723_10 |
|
|
dynein,
axonemal, intermediate polypeptide 2 |
DNAI2 |
Intron |
17 |
72882454 |
0.4 |
0.44 |
0.19 |
0.15 |
hCV1875723 |
AGGCTGCCCTTCCTGTTGCCCTCCAGCCCTGCTGGGCTCT[G/A]ACCTCGTATATGGACCACCAGAGCAGGATGATGCATTAGA |
G |
G |
C__11621754_10 |
|
|
dynein,
axonemal, intermediate polypeptide 2 |
DNAI2 |
Silent
Mutation |
17 |
72898555 |
0.37 |
0.34 |
0.26 |
0.19 |
hCV11621754 |
TCGTCATCTCCTGCAACCGCAAGGCCAAGACGTCAGCTGA[A/G]AAGATTGTGTGCACCTTCCCGGGCCATCATGGCCCCATCT |
G |
G |
C___1875768_1_ |
rs2290955 |
IMS-JST043141 |
dynein,
axonemal, intermediate polypeptide 2 |
DNAI2 |
Intron |
17 |
72902657 |
0.36 |
0.23 |
0.28 |
0.19 |
hCV1875768 |
GTTCGAGCAGTGCGATCCCACCCTCAGCTTGAAGGTCACG[C/T]GCATGTCCCTCCTTGTGCATCCAGGTCCTCAGGGAGCCAG |
T |
T |
C___1875769_1_ |
rs2290956 |
IMS-JST043142 |
dynein,
axonemal, intermediate polypeptide 2 |
DNAI2 |
Intron |
17 |
72902811 |
0.45 |
0.41 |
0.29 |
0.2 |
hCV1875769 |
GTGGGGGAGCCGTGTGCAGGCTGACTGCAGCGATTGCTTT[C/T]GAGCGTGTGCTCCTACAAAGGTTAAGGGGCCTGGGGGATT |
C |
C |
C__11415621_1_ |
rs1979370 |
IMS-JST026710 |
dynein,
axonemal, intermediate polypeptide 2 |
DNAI2 |
Mis-sense
Mutation |
17 |
72905442 |
0.1 |
0.45 |
0.1 |
0.14 |
hCV11415621 |
GGTCAGCAAGGCCGAGGAGGAGTTCTTCGACATCATCTTC[A/G]CAGAGCTGAAGAAGAAGGAGGCAGACGCCATAAAGCTGAC |
G |
G |
C___1875780_10 |
|
|
dynein,
axonemal, intermediate polypeptide 2|hypothetical protein FLJ37300 |
DNAI2|FLJ37300 |
|
17 |
72913340 |
|
|
0.26 |
0.27 |
hCV1875780 |
TAACCATGACAACACAGATTCAGCACCTAAAGTGGCTACC[A/G]GCAGATTGCAGGTGCATACTAAACCTTAGTTTCCTGGGCT |
A |
A |
C___1875824_10 |
rs1109755 |
|
hypothetical
protein FLJ37300 |
FLJ37300 |
Intron |
17 |
72931026 |
0.45 |
0.39 |
0.21 |
0.24 |
hCV1875824 |
AAACCTGGCCTCCTTTTGCACTCTGTCCCTGAGACCTTGC[T/C]CAGCAAGCGTGTTGACCTGGCCTGAGCACCCCATGCTGGT |
C |
C |
C___1875829_10 |
|
|
hypothetical
protein FLJ37300 |
FLJ37300 |
Intron |
17 |
72934080 |
0.1 |
0.19 |
0.04 |
0.17 |
hCV1875829 |
TGACCTCATCCCTCACCCAGCTGCCTGTGGCTCTTTGCTC[G/T]GTCCCAGGCTCTGCCCTGGAGGGGTGAGGCGGAGCAGGCA |
G |
G |
C___1875839_10 |
|
|
hypothetical
protein FLJ37300 |
FLJ37300 |
Intron |
17 |
72942239 |
0.47 |
0.13 |
0.33 |
0.47 |
hCV1875839 |
ATGGGGGTGGCCCTTCAACAACGGGTGGAGGAATGAGGAC[A/G]TTCCCCGCAGGCATTAGGAAGCCACTGAAGGTTGATGAGA |
A |
A |
C___1875846_10 |
|
|
G
protein-coupled receptor 142|hypothetical protein FLJ37300|G protein-coupled
receptor 142 |
GPR142|FLJ37300|GPR142 |
|
17 |
72956345 |
0.2 |
0.07 |
0.23 |
0.24 |
hCV1875846 |
CAGTTCTTCGTGGGAGGGACTCCTTTGAGCTTGGCTAACC[A/G]AAGTGGGTGACTCCCAAGGGATCTGACTCCGAGGCAGGGC |
A |
A |
C__11987559_10 |
rs1320038 |
|
G
protein-coupled receptor, family C, group 5, memberC |
GPRC5C |
Intron |
17 |
73027050 |
0.01 |
0.36 |
0.13 |
0.17 |
hCV11987559 |
TTGGCCATGGGTCAGTGTTGAGTTTGGTTGGCCCTGTGAC[A/G]CGCTGGAGCTCTCTTTCCAGTGCGGTATCCTTGGCCCTGG |
A |
A |
C__11628403_10 |
|
|
leukocyte
membrane antigen |
CMRF-35H |
Intron |
17 |
73076546 |
|
|
0.11 |
0.19 |
hCV11628403 |
CGCAGTACCCCTGTACTGGCTTCAACTCCACCTAGAGAAC[G/A]AGGGGTCCTCTGCAGAAAGGGATCCATGGCTGCTTCGTTG |
A |
A |
C__11628451_10 |
|
|
leukocyte
membrane antigen |
CMRF-35H |
|
17 |
73086528 |
0.02 |
0.06 |
0.14 |
0.2 |
hCV11628451 |
AATACAGCGCCTCACTTGGCATGTCCAATGCCAACATGAT[A/G]GATATTCGGAGGATTAAATAATGTTAGGTTAATCATCAAT |
G |
G |
C___1501832_10 |
rs1171197 |
|
triggering
receptor expressed on myeloid cells 5 |
TREM5 |
|
17 |
73109768 |
|
|
0.44 |
0.37 |
hCV1501832 |
CACAGGACTTCAGCTGTGAGGAGCCTGTGTCCTCGCGGAG[C/G]CTTCTGTTTGCAGAAAGAAAGTTGCCATGGCCCTGGAGGA |
C |
C |
C___1501823_10 |
rs884802 |
|
triggering
receptor expressed on myeloid cells 5 |
TREM5 |
|
17 |
73114166 |
0.5 |
0.2 |
0.2 |
0.24 |
hCV1501823 |
AGGGCATGACGGCTTTGGCTCCAAGCTCCCAATGGAAACA[C/T]ATTTGCTGGAAAATGCAATGCCAGCACTAGTGACTCATTT |
C |
C |
C___1501802_10 |
|
|
CMRF35
leukocyte immunoglobulin-like receptor|triggering receptor expressed on
myeloid cells 5 |
CMRF35|TREM5 |
|
17 |
73129501 |
0.49 |
0.19 |
0.2 |
0.23 |
hCV1501802 |
TTAAAGTGAAAATCCTGTTTCTCAAAAGATATCATAAAGC[T/C]AATAGCCCAGGAAAGTATATGTGGAGCACCAGTAACTAAC |
T |
T |
C___1501775_1_ |
rs783230 |
IMS-JST014711 |
CMRF35
leukocyte immunoglobulin-like receptor |
CMRF35 |
UTR
5 |
17 |
73139103 |
0.41 |
0.07 |
0.36 |
0.39 |
hCV1501775 |
ACCTGCCACTGTGCAAGACCCCAGGAGGGGACAAAATGTA[A/G]TCTCCTCCCAGCAGATCTGAGCTTCGCTTCTGCTTTTCTT |
A |
A |
C___1501758_10 |
rs1719480 |
|
CMRF35
leukocyte immunoglobulin-like receptor |
CMRF35 |
|
17 |
73148521 |
|
|
0.43 |
0.45 |
hCV1501758 |
GAGTTTCTCAGTTTGGGTCGCCTTGGCCCCCTCCGCCTAA[A/C]GCACCCTTCTCATTCTGTTTCCTGAGTCTGAGGATTCTGC |
A |
A |
C___1501697_10 |
rs493430 |
|
hypothetical
protein FLJ31882 |
FLJ31882 |
Mis-sense
Mutation |
17 |
73185449 |
|
|
0.28 |
0.46 |
hCV1501697 |
CTCCAGCCACACTCACCTGGGAGGATGAGAAGCAGCAGAG[C/A]TGGGGACAGCCACATGGTCCTGTCTCCTCTCCTCTCCTTG |
A |
A |
C___1501652_1_ |
rs555542 |
IMS-JST028263 |
immune
receptor expressed on myeloid cells 2 |
IREM2 |
|
17 |
73203615 |
0.39 |
0.29 |
0.47 |
0.39 |
hCV1501652 |
GTTCTGAACTCTTCCCTCCATGTTTTCACTTCTTGCTGGG[C/T]TCCAGTTAATCTCTCTACACACATTCCTCTCCAGCCCTCA |
C |
C |
C___3256955_10 |
rs579238 |
|
immune
receptor expressed on myeloid cells 2 |
IREM2 |
Silent
Mutation |
17 |
73205957 |
0.18 |
0.37 |
0.16 |
0.11 |
hCV3256955 |
ATCTTCCAGGAGGAGCCCACTGAGGCCTGTTCACCCAGAA[A/G]ACAGCACCCAGCATGCTCAGGAGCAGGGGCAGCTTCAGAA |
A |
A |
C___7471778_10 |
rs1699607 |
|
immune
receptor expressed on myeloid cells 2 |
IREM2 |
Intron |
17 |
73216348 |
|
|
0.38 |
0.5 |
hCV7471778 |
ATTTCTCACAAACCATTCCAACCCCTTTACACTAAGCTTC[A/G]TCAAAACAGAACTATTGTTAATTCTTGAACTCTCCATGGT |
A |
A |
C___3256932_10 |
rs550333 |
|
immune
receptor expressed on myeloid cells 2 |
IREM2 |
|
17 |
73223947 |
|
|
0.4 |
0.49 |
hCV3256932 |
GAGAGGGCTGGGGACAAAGGGGAGCGTTTGTTTAATCAAA[G/A]TCCTCCAGTATGCTGAGAGGTGAGTAGGCAGATCTTCTGG |
A |
A |
C___1075776_10 |
rs576135 |
|
|
|
|
17 |
73227768 |
0.1 |
0.19 |
0.46 |
0.43 |
hCV1075776 |
TTCTATGGTCACCATGGAGCATGTAAGAAATTGCACAGGT[A/G]TCTAAGGCCAGGCCCAGAGTTGGGTACCAGACTTCCACCA |
A |
A |
C___3256904_1_ |
rs2280177 |
IMS-JST028261 |
RAB37,
member of RAS oncogene family |
RAB37 |
UTR
5 |
17 |
73264643 |
0.14 |
0.32 |
0.09 |
0.15 |
hCV3256904 |
GGGCGCACAACGGCGGAGTCGCTGTTCCTGGTGCTGAAAC[T/G]CTCAGTCCTGGAAGAACGTGGCCGCCTGCCCGCCTGGTAC |
T |
T |
C___7985691_1_ |
rs2280176 |
|
RAB37,
member of RAS oncogene family |
RAB37 |
Intron |
17 |
73265019 |
|
|
0.19 |
0.23 |
hCV7985691 |
TTCTCCACTCCCCTGACTTTGCTTTGGGACTTAATGAGAA[G/A]CTAGCTTGTATCTGTGAGTCTGGGGAGCCCTTTCTGTCTG |
G |
G |
C__11628726_10 |
|
|
NK
inhibitory receptor precursor|RAB37, member of RAS oncogene family |
NKIR|RAB37 |
Intron |
17 |
73279064 |
|
|
0.06 |
0.05 |
hCV11628726 |
GAAGCCCAGGTGACAATCTCAGCCTGGCCCAGGATAAACA[T/C]CAAAGCAAAATCAATGCCAGTGGGAGATATTCATTCACAA |
T |
T |
C___2160120_10 |
rs2034310 |
|
NK
inhibitory receptor precursor |
NKIR |
Mis-sense
Mutation |
17 |
73289051 |
|
|
0.42 |
0.27 |
hCV2160120 |
CTGGTCAACCTGGGCAGAGGAAAGCTTCGTGGTAGCCTTT[T/C]GCGGGGAGGTTCCGGCCAGCTGCAGGGTCAGGTCTGCATA |
T |
T |
C___7471885_10 |
rs1037170 |
|
NK
inhibitory receptor precursor |
NKIR |
Intron |
17 |
73300037 |
0.21 |
0.17 |
0.49 |
0.34 |
hCV7471885 |
GCCTCAGTGTCAGAGAGACCCTGGGAAGGGGTGAGGACCA[T/C]GGCAGCCTGGATTGGAGAGCAGGGTATCCATGCGAAGGCA |
C |
C |
C__11630852_10 |
|
|
solute
carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor
1|RAB37, member of RAS oncogene family |
SLC9A3R1|RAB37 |
|
17 |
73332752 |
0.06 |
0.43 |
0.4 |
0.26 |
hCV11630852 |
TTTCTGCTGAAAGAACTTCCAACTACACATCTCCCCACTT[C/T]AGTATAAATTTCAACCTTCCCTAATTCATGCAACCTTTTT |
T |
T |
C___2160150_10 |
|
|
solute
carrier family 9 (sodium/hydrogenexchanger), isoform 3 regulatory factor
1|RAB37, member of RAS oncogene family |
SLC9A3R1|RAB37 |
Intron |
17 |
73345659 |
0.04 |
0.08 |
0 |
0.06 |
hCV2160150 |
CTACCCCCAAAACCACACCCAGGGTCCGAATTCCCCTCTA[A/G]CCTCTAAGCCTTCACACCCTGACACTTCTGTCCCCTCCCA |
A |
A |
C___2160155_10 |
|
|
solute
carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1 |
SLC9A3R1 |
Intron |
17 |
73352047 |
0.48 |
0.2 |
0.29 |
0.25 |
hCV2160155 |
TCCCCAGAGGCAGAACCCAGCCCTGCCCCAGCTTGGCGGT[A/G]AGGGTCCAAGAGCAATGGTGGCTGAGCTCGGCCAGGTACC |
A |
A |
C___2160161_1_ |
rs7420 |
IMS-JST014038 |
DKFZP564C103
protein|hypothetical protein FLJ20255|solute carrier family 9
(sodium/hydrogen exchanger), isoform 3 regulatory factor 1 |
DKFZP564C103|FLJ20255|SLC9A3R1 |
UTR
3 |
17 |
73362338 |
0.49 |
0.5 |
0.27 |
0.26 |
hCV2160161 |
ACTGCAGAACTGCCGCTCTCAGTGGACAGGGCATCTGTTA[T/C]CCTGAGACCTGTGGCAGACACGTCTTGTTTTCATTTGATT |
T |
T |
C___1075797_1_ |
|
|
DKFZP564C103
protein|hypothetical protein FLJ20255|solute carrier family 9
(sodium/hydrogen exchanger), isoform 3 regulatory factor 1 |
DKFZP564C103|FLJ20255|SLC9A3R1 |
|
17 |
73362854 |
0.4 |
0.16 |
0.28 |
0.18 |
hCV1075797 |
AGGAAGATGCATGCACCCAGCCGGGTATTCAGCTTGGTGT[G/A]GTCAGTGTGCCTGTGTGCTGGGCTGCAAGCACCGATTGTG |
A |
A |
C___2160162_10 |
rs12797 |
|
DKFZP564C103
protein|hypothetical protein FLJ20255|solute carrier family 9
(sodium/hydrogen exchanger), isoform 3 regulatory factor 1 |
DKFZP564C103|FLJ20255|SLC9A3R1 |
UTR
3 |
17 |
73364116 |
0.44 |
0.32 |
0.28 |
0.23 |
hCV2160162 |
GGTGGAAGGAAACTGGGCCAACTCTACTTTGTAAGCCATA[G/A]GGTGCCAGGTAGCCCGGCCACCCTGAGCCTGTGCCTCCAC |
A |
A |
C___2160180_10 |
rs2053748 |
|
DKFZP564C103
protein|hypothetical protein FLJ20255 |
DKFZP564C103|FLJ20255 |
Intron |
17 |
73373034 |
|
|
0.28 |
0.32 |
hCV2160180 |
ATTCATACGTGTGCTTCAGCCCACGCGCATTTACAAGACA[A/G]AGCCTCTCCTTAGCTCTCTATTGCCCCATTCATTTTGAGT |
A |
A |
C___3256959_1_ |
rs2166703 |
IMS-JST041845 |
DKFZP564C103
protein|hypothetical protein FLJ20255 |
DKFZP564C103|FLJ20255 |
Intron |
17 |
73378935 |
0.39 |
0.44 |
0.29 |
0.3 |
hCV3256959 |
GGCCAGGAGTGGAGCAGGAGGGAGTCAGCCCAGGAAGCCC[A/G]AACATGAGGGCACTGAGGGGGTGGGAAGACACCTGTCTAC |
A |
A |
C___7471437_1_ |
rs2016126 |
IMS-JST041844 |
hypothetical
protein FLJ20255 |
FLJ20255 |
Mis-sense
Mutation |
17 |
73382055 |
0.38 |
0.41 |
0.34 |
0.37 |
hCV7471437 |
TGTCCGCCTTTGGCGCTGGGCACTCGGCCCCCTCAGCTTC[A/G]TGACCACCACCTTTGTGATAGAGGCCATGGCTGCAGCCAA |
A |
A |
C___7471439_10 |
rs872640 |
|
hypothetical
protein FLJ20255 |
FLJ20255 |
Intron |
17 |
73390856 |
0.24 |
0.49 |
0.41 |
0.5 |
hCV7471439 |
TCTACCCAGTTTGGAGAAATCAAGGCAGATGGGCCTTGGC[A/G]TTGTCTCAGAAGTCACTTCACAGTTTTGCATGTGGCTCCC |
G |
A |
C___7471440_10 |
rs939540 |
|
hypothetical
protein FLJ20255 |
FLJ20255 |
Intron |
17 |
73402906 |
0.49 |
0.38 |
0.46 |
0.41 |
hCV7471440 |
GCCCCTTCATGCCGCCTCTTTCCCAGCCACAGGCTAACAT[C/T]GCATCCTGGGAGGTGGTGTTCTGGACCTGCAATAGCTCAG |
T |
C |
C___7471445_10 |
rs939537 |
|
glutamate
receptor, ionotropic, N-methyl D-aspartate 2C|hypothetical protein FLJ20255 |
GRIN2C|FLJ20255 |
Intron |
17 |
73427555 |
0.23 |
0.11 |
0.32 |
0.49 |
hCV7471445 |
ACTAGGTCGCCGCTTCCGCTTGACTGACCAGGGTTGGGAC[A/G]ATTTGTGATGTCGGGGGAGGAGGAGTCCCCAGGCCCTCAG |
A |
A |
C____569394_10 |
|
|
ferredoxin
reductase|glutamate receptor, ionotropic, N-methyl D-aspartate 2C |
FDXR|GRIN2C |
Intron |
17 |
73450573 |
0.34 |
0.49 |
0.32 |
0.47 |
hCV569394 |
AAAGGGTTCTCATTCCCAAGAGAGATGTAGTTTAACCACA[A/G]TCAGAGCCTTAAGCTAAAGTGCCAGGTGGTAGAATTTCAG |
A |
A |
C____569386_1_ |
rs509911 |
IMS-JST005986 |
ferredoxin
reductase|glutamate receptor, ionotropic, N-methyl D-aspartate 2C |
FDXR|GRIN2C |
Intron |
17 |
73459932 |
0.19 |
0.08 |
0.31 |
0.49 |
hCV569386 |
CTGTGTCCCCAGGAGGGAAGCTGGGTGGCATGGGCACAGA[C/T]GGCATGAAGTCCTGTCATCCAGCCAGGGAGCCTCCCTGCC |
C |
T |
C___1197163_10 |
|
|
ferredoxin
reductase|similar to delta 5 fatty acid desaturase |
FDXR|LOC283985 |
|
17 |
73474335 |
0.01 |
0.07 |
0.03 |
0.07 |
hCV1197163 |
AGCGCCCCAGGTTGGGGTGGCCTCACCTGGAAGATGTTGA[T/C]GTGGAGGTAGGGGTGGGCCAACAGGGATCTGGTGAGGAAC |
T |
T |
C___1197153_10 |
rs511645 |
|
similar
to delta 5 fatty acid desaturase|similar to delta 5 fatty acid desaturase |
LOC283985|LOC283985 |
Intron |
17 |
73484659 |
0.06 |
0.16 |
0.07 |
0.03 |
hCV1197153 |
CTCATTCTGCCCCTGTGACCCAGCATTATGACACAGTCCA[C/T]GTCACCAGCACAGCCCAATGTCTCCCTTGCCTCTCTGTGG |
C |
C |
C___1197148_10 |
rs690607 |
|
similar
to delta 5 fatty acid desaturase|similar to delta 5 fatty acid desaturase |
LOC283985|LOC283985 |
Intron |
17 |
73485535 |
|
|
0.06 |
0.03 |
hCV1197148 |
ATCTGGAGGCCCCACTGGTTGTAACTGTGGGCCAAGACAG[C/T]GGCATACTCATCCTACAACTCTCTACCCATGGGGTGCAAA |
T |
T |
C___1197086_10 |
rs902730 |
|
chromosome
17 open reading frame 28|otopetrin 3 |
C17orf28|OTOP3 |
Intron |
17 |
73549911 |
0.5 |
0.34 |
0.06 |
0.06 |
hCV1197086 |
TCTACCACCGCACACTACCCACCCTGCAGTCTAAACCAGA[A/C]CACAGACAGACCAGCCACCCCTAGCCACAACCATCCTCTC |
A |
A |
C__11625698_10 |
|
|
chromosome
17 open reading frame 28 |
C17orf28 |
Intron |
17 |
73553924 |
0.3 |
0.35 |
0.24 |
0.13 |
hCV11625698 |
CCTGATAAGGCTGGTGAGAAAGAAAACTCTGGCCAGCCTC[G/T]GACTGTGGCTGGTGGAGGGGGTCGCCTGGCTCCCTTCTCT |
T |
T |
C___7471448_1_ |
rs902726 |
IMS-JST027296 |
immature
colon carcinoma transcript 1 |
ICT1 |
Intron |
17 |
73613379 |
0.36 |
0.41 |
0.15 |
0.18 |
hCV7471448 |
GGAAGTCTATTTTTGCCCAAAAGTGCCTCACTGTCTTTGC[A/G]GGCTTGTTCATAGCCAACTTGGACATAGGCTACAATGTAC |
A |
A |
C___1197000_10 |
rs2291535 |
|
ATP
synthase, H+ transporting, mitochondrial F0 complex, subunit d |
ATP5H |
Intron |
17 |
73632626 |
0.06 |
0.04 |
0.4 |
0.44 |
hCV1197000 |
|
#N/A |
#N/A |
C____431425_10 |
|
|
|
|
|
17 |
73667911 |
0.36 |
0.36 |
0.09 |
0.09 |
hCV431425 |
TCATCAGGAGGTCAAACAGCTGCAGATGCAGATCTTGGAT[T/C]TCGTGGAGAAAGAGGAAGCAGCCGCCCTGGGGATGCTGAG |
T |
T |
C_____67697_10 |
|
|
solute
carrier family 16 (monocarboxylic acid transporters), member 5 |
SLC16A5 |
Intron |
17 |
73683507 |
0.27 |
0.11 |
0.13 |
0.14 |
hCV67697 |
GTATGGATGCCCAGTCGGCTCTCCAGCCTCCCCTCCCATC[A/G]AGCGGTTTCTCCAGTCAACTGGTCTTTCAAAATTCAGCCC |
T |
T |
C___1889880_10 |
rs899317 |
|
5',
3'-nucleotidase, cytosolic|hypothetical protein FLJ22160|solute carrier
family 16 (monocarboxylic acid transporters), member 5 |
NT5C|FLJ22160|SLC16A5 |
Intron |
17 |
73718177 |
|
|
0.36 |
0.36 |
hCV1889880 |
GTGGAAGGGACAGAGCAAGGACAAAAGGCAGCCTACAGAA[T/C]GCCACAGCCACGCTAGGGGCCACCCTGTGCTTTAGCAAGT |
T |
T |
C___1889875_10 |
rs4788867 |
|
5',
3'-nucleotidase, cytosolic|hematological and neurological expressed
1|hypothetical protein FLJ22160|solute carrier family 16 (monocarboxylic acid
transporters), member 5 |
NT5C|HN1|FLJ22160|SLC16A5 |
Silent
Mutation |
17 |
73724806 |
0.28 |
0.47 |
0.36 |
0.35 |
hCV1889875 |
GCAGGGCGCGGTACTGCTCGCGGGCCAGGAAGCCGCGGCG[C/T]TGCTCCAGCGGCACGTGCGGCTCCTCAGGGAAGCGGCGGC |
C |
C |
C__11623355_10 |
|
|
hematological
and neurological expressed 1 |
HN1 |
Intron |
17 |
73746973 |
0.31 |
0.23 |
0.34 |
0.36 |
hCV11623355 |
CCTCAATGGGGGGTGAAGGGTCGCGATGACCAGCCCCGCT[C/T]GACCACACATGCACCTGTCAGGTAGGTCCGAATAAGGAGT |
T |
T |
C___1889842_10 |
|
|
SMT3
suppressor of mif two 3 homolog 2 (yeast) |
SMT3H2 |
Intron |
17 |
73772417 |
0.27 |
0.17 |
0.49 |
0.45 |
hCV1889842 |
ATGCCAGTTTATAAATTATTTAACACAATTCATAAGTTCA[T/C]GTAGGGTGATTTCAGCAAAATTCTTCAAATAAGAGTATAT |
T |
T |
C___1889830_10 |
rs729405 |
|
SMT3
suppressor of mif two 3 homolog 2 (yeast) |
SMT3H2 |
|
17 |
73782780 |
0.27 |
0.49 |
0.39 |
0.46 |
hCV1889830 |
TGTAGTAGTTATTTGCTACTCTCAAAGGGGTTAAGTAAAC[G/A]TGCTATCACATAGCTAGAAAGTAGTGTTAACTGAGCTCCT |
G |
A |
C__15964394_10 |
rs2291026 |
|
pericentrin
1 |
PCNT1 |
|
17 |
73798600 |
0.2 |
0.13 |
0.06 |
0.03 |
hCV15964394 |
ATCCCGCACGAGTTCCCACCCAAGTGCCGCCGCCCCAGCC[C/T]ACGCACGCGCATTCGCACCGTCTCCAGCCCCGGGGTCCTC |
C |
C |
C__11416540_10 |
rs1871269 |
|
pericentrin
1 |
PCNT1 |
Intron |
17 |
73818122 |
0.24 |
0.47 |
0.21 |
0.05 |
hCV11416540 |
TGGACTACAGCTGGCTGTTTGAAAAACATAGTGGAGGTGA[T/C]AAAGCCATGAGATTGGATGTGATAGATTACTTCTGGAGGG |
C |
C |
C__11416551_1_ |
rs9988 |
IMS-JST043250 |
golgi
associated, gamma adaptin ear containing, ARF binding protein 3|pericentrin 1 |
GGA3|PCNT1 |
Silent
Mutation |
17 |
73827979 |
0.2 |
0.22 |
0.07 |
0.05 |
hCV11416551 |
GGATTGCCCCTCGGTCTTTCTGGATGACTCTGCTGACAGA[C/T]GCCTTGCCCCTTTTGGAACAGAAACAGGTGAAGGTTGCAG |
C |
C |
C__16193164_10 |
rs2306219 |
|
solute
carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 |
SLC25A19 |
Intron |
17 |
73879759 |
|
|
0.21 |
0.03 |
hCV16193164 |
GAACTTTCAGAAAAGGCAAGCCCTTCATCTGGATAGAATT[T/C]CAAGTTTTAGGAACTGCTTTTGCAAGAAAGACTGAACTTG |
C |
C |
C___1889809_10 |
|
|
solute
carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 |
SLC25A19 |
|
17 |
73887704 |
|
|
0.47 |
0.4 |
hCV1889809 |
GTACACAAAATGATGACCTTTTTTCTTTTTTCACTCAATG[A/C]AAGTAATGATAAGCATTGTCCACACAGGAAAAAGATAGTT |
A |
A |
C__11630867_10 |
|
|
growth
factor receptor-bound protein 2 |
GRB2 |
|
17 |
73905469 |
|
|
0.44 |
0.49 |
hCV11630867 |
CAGCCCCATCTGTAAGGAGATGGCGCAGATGCTGGTCTTA[C/T]GAAAGCTGTCACTGCTGCTTCCTTCTATTTTAGATGACAA |
C |
C |
C__11424231_10 |
rs2053160 |
|
growth
factor receptor-bound protein 2 |
GRB2 |
Intron |
17 |
73933321 |
0.38 |
0.23 |
0.28 |
0.02 |
hCV11424231 |
AAATCATAATTTTTTTTAAAAGAAATAGGCTGTACAGTTA[T/C]GGTCCCATCAAGCCTTTCAACACGCGCTCCAATTCCAACA |
T |
T |
C___1575871_10 |
rs1076094 |
|
growth
factor receptor-bound protein 2 |
GRB2 |
Intron |
17 |
73941834 |
0.38 |
0.24 |
0.27 |
0.01 |
hCV1575871 |
AAATAAAGAGGAAATAAGTAAAAAAGTGAGATAAGGGAAA[T/C]TGCTGATTTTGAGCTGGACACAGAATTCACCGCTACATGT |
T |
T |
C___7915026_10 |
rs4788891 |
|
growth
factor receptor-bound protein 2 |
GRB2 |
Intron |
17 |
73988268 |
0.26 |
0.31 |
0.08 |
0.01 |
hCV7915026 |
GGACAGATTATTTATAGTGACACCTTTCTTGGATAATTAC[G/A]ACCCAGCAGCTCATTTGAGGGGCACAAGTGATTATTATTC |
A |
A |
C__11424244_10 |
rs2053158 |
|
growth
factor receptor-bound protein 2 |
GRB2 |
Intron |
17 |
73990582 |
0.27 |
0.32 |
0.21 |
0.01 |
hCV11424244 |
GTTGCTGTTCACTTCCCAAGAAAATGGGGTATAGTGTACT[A/T]AACACTGAAGCCTAATGAGAGTAACCTCGAAACTGTTACC |
T |
T |
C____467484_10 |
|
|
KIAA0195
gene product |
KIAA0195 |
|
17 |
74047348 |
|
|
0.23 |
0.06 |
hCV467484 |
TTCTTCTCAATAGACTCATCTTGGTACTCATCTGAAGACA[C/T]GGGAAGCTTCAGAAAAATGAAGAAGGATTGGTATAGCTGC |
T |
T |
C____317593_10 |
|
|
KIAA0195
gene product |
KIAA0195 |
Intron |
17 |
74069022 |
0.06 |
0.02 |
0.43 |
0.49 |
hCV317593 |
AAGACTCCAACACCTTCCTGCCAGGTAGCACGGAGACCCT[A/C]ACAGCCATGCAGGGAAGAGCCGGGCCAGCAGCCGGTGATG |
G |
G |
C____317594_10 |
|
|
KIAA0195
gene product |
KIAA0195 |
Intron |
17 |
74070379 |
|
|
0.4 |
0.48 |
hCV317594 |
TAGTACTTTCACCCACATTCTTCCCCACCTCCTGTAGCCA[C/T]CAGGACCTAGGAAAAAATCCTCCCCACCCTGGTGGCTCTT |
G |
A |
C____465065_10 |
|
|
KIAA0195
gene product |
KIAA0195 |
Intron |
17 |
74082156 |
0.06 |
0.16 |
0.41 |
0.48 |
hCV465065 |
TAGGGGTGCTGCCCCGCCTCCTCCTGTCCCTGGTGTCTTC[T/C]GTGAAGAGGGGAATGGGACTGACAAGGAAGGGGCCCCGTT |
T |
C |
C___7978972_1_ |
rs1661725 |
IMS-JST062862 |
lethal
giant larvae homolog 2 (Drosophila) |
LLGL2 |
Intron |
17 |
74157257 |
0.39 |
0.2 |
0.36 |
0.14 |
hCV7978972 |
CTTCCACCTTCCCAGAGAGACGGTACTGAGCAGCAGGTCT[T/C]AAACTCCTTTAGTTGGCAGCCCTGTTTCTTCAGACAAAAT |
C |
C |
C___7470162_10 |
rs820235 |
|
lethal
giant larvae homolog 2 (Drosophila) |
LLGL2 |
|
17 |
74177889 |
|
|
0.16 |
0.12 |
hCV7470162 |
TGTGAGCTCGTAGTCCTTCTAACAGCTGCCTCCCTCTCCA[A/G]AAGGCTGCCTCCTTGAGAATGCAGGCTGCAAAGGCCAAAT |
G |
G |
C___7978601_1_ |
rs2290455 |
IMS-JST042431 |
|
|
|
17 |
74184391 |
0.24 |
0.05 |
0.3 |
0.2 |
hCV7978601 |
CTGGCAACCTTCTCATCTCCCTCAGACACATCTTTGCCAT[T/C]GTGGCATCAGCCTATGACCTGGCTCAGAATACTGGGCAGG |
T |
T |
C___7470129_10 |
rs736525 |
|
|
|
|
17 |
74185322 |
0.47 |
0.46 |
0.2 |
0.17 |
hCV7470129 |
GCAGTGAGTGGCAGGGTTGCAGGGGGCACCTACAATCACT[T/C]ACCCTTCCTGGGTCCTTGGGCTGCTTCCCTGGGGTCCAGA |
C |
C |
C___7470122_10 |
rs736521 |
|
|
|
|
17 |
74185665 |
0.34 |
0.27 |
0.2 |
0.2 |
hCV7470122 |
CCCCAAGGCCCAGGCTGAGCGGAGCTTCCATGTTTTTTAC[G/A]AGCTGCTGGCAGGGCTGGACTCCATAGAGCGGGAGCGGCT |
G |
G |
C___7978571_10 |
rs820264 |
|
|
|
|
17 |
74192109 |
0.36 |
0.43 |
0.2 |
0.2 |
hCV7978571 |
GGCTCAGCAATATCACTTAGGTCTATGTTATGTGACATGT[A/G]CCATTTTCTGAGTCCGAGGTGGGTGCTGAGCCTGGAATTG |
A |
A |
C___7978519_10 |
|
|
|
|
|
17 |
74206235 |
|
|
0.36 |
0.41 |
hCV7978519 |
GGACGGATCCCTGGAGTCCTGGCAGAGGCAGATCATGGGC[A/G]CATACCTGGTGCGGCAGGGGCAGTGCCGGCCAGGGCTGCG |
A |
A |
C___7978492_1_ |
|
|
RecQ
protein-like 5 |
RECQL5 |
|
17 |
74211098 |
0.35 |
0.23 |
0.14 |
0.14 |
hCV7978492 |
TCGCGCCCTCTGGCAGCGTGTGCTTCTCCTACACCGGCAC[G/A]CCCTGGAAGTTGTTCCTACGCAAGGAGGTGGGCATGAGGG |
A |
A |
C___7978466_1_ |
|
|
RecQ
protein-like 5 |
RECQL5 |
|
17 |
74214526 |
0.41 |
0.36 |
0.19 |
0.16 |
hCV7978466 |
GCTGGCTGGGATGAGGGCAGGAGGGCCAAACAAGCTGGGC[C/T]GTCTCCCTCTGCCCCCCACAGGCTGGGCCAGACTGATGGA |
C |
C |
C___7978433_10 |
rs820200 |
|
RecQ
protein-like 5 |
RECQL5 |
Intron |
17 |
74229153 |
|
|
0.45 |
0.38 |
hCV7978433 |
CAAGTGGCAGCTGTCTGGCCTGCGGGATGCCTGCCTGTTG[A/C]AAGGCTCCGTGTGCCAGGAGATGCCACATAAAGGAATGCT |
C |
C |
C___7978408_10 |
rs729778 |
|
RecQ
protein-like 5 |
RECQL5 |
Intron |
17 |
74239404 |
0.49 |
0.22 |
0.43 |
0.33 |
hCV7978408 |
GGCACCAATGGGAAGCCTCAGGGGGGAGCAACACTTCCCC[C/T]AGAAACAGTTCCAGGAGGCACCAGGCGCCAGCCAGGGCTG |
T |
T |
C___7469898_10 |
rs820157 |
|
RecQ
protein-like 5|transcriptional regulator protein |
RECQL5|HCNGP |
Intron |
17 |
74258534 |
|
|
0.2 |
0.13 |
hCV7469898 |
TCGATGTAATCCTAATTCCCCTCCTGTCCTTTCTATGAAA[G/A]AGGCAAGGATCCTGGGAAACTTGGATACATGCCCAAACCA |
G |
G |
C___2880746_1_ |
rs820129 |
IMS-JST042440 |
RecQ
protein-like 5|transcriptional regulator protein |
RECQL5|HCNGP |
Intron |
17 |
74265230 |
0.45 |
0.45 |
0.43 |
0.35 |
hCV2880746 |
CTGGGATAAAATAAGCTTTATAAAGAAAGAACCTGGAGAC[G/A]ACTCAGGAATGAACAAATCCTGAGACACATTGGATTTCCA |
A |
A |
C___7978249_10 |
rs707707 |
|
RecQ
protein-like 5|transcriptional regulator protein |
RECQL5|HCNGP |
Intron |
17 |
74266644 |
0.4 |
0.31 |
0.43 |
0.35 |
hCV7978249 |
CTCAGTAGTGATAATCTTCTCTGCCTAGTATTTAGGGTAT[G/A]TGGGACTTGGAGCCTGCACGTAAAACAAGCCCAGGGAGCC |
G |
G |
C___2880744_1_ |
rs820216 |
IMS-JST026009 |
transcriptional
regulator protein |
HCNGP |
Intron |
17 |
74287041 |
0.39 |
0.26 |
0.19 |
0.14 |
hCV2880744 |
TCCTCTGTCTTTGCAACCCCTCCTCCCCCTCTCCGCTGGC[A/G]TATGCATGCTGCTCAGGGAGTCAGCATGTGGCCTCTGCTG |
G |
G |
C___7978165_1_ |
rs2305529 |
IMS-JST062868 |
transcriptional
regulator protein |
HCNGP |
Intron |
17 |
74299376 |
0.5 |
0.15 |
0.44 |
0.31 |
hCV7978165 |
AGCCAGGGTCTCCCTGGCTTGTTTGGGCGACAGACAGCAC[A/G]TGGATCTGGGCCTGGGCTCAGCCTTGCTACTTTGAGAAGC |
A |
A |
C___1844537_10 |
rs820174 |
|
integrin,
beta 4 |
ITGB4 |
Intron |
17 |
74329148 |
0.26 |
0.28 |
0.36 |
0.42 |
hCV1844537 |
AAAGTGAGGAAGAGATGACTTCTACCCCAGGCTAGCGGCA[T/C]CCTGGCTCCCACAGCTCTGCTCCCACAGGCCCTCCCTGCC |
C |
T |
C__15884669_10 |
rs2290460 |
|
integrin,
beta 4 |
ITGB4 |
Silent
Mutation |
17 |
74329551 |
0.04 |
0.1 |
0.26 |
0.45 |
hCV15884669 |
|
#N/A |
#N/A |
C___1844552_1_ |
rs1008177 |
IMS-JST006495 |
galactokinase
1|integrin, beta 4 |
GALK1|ITGB4 |
Intron |
17 |
74349113 |
0.4 |
0.09 |
0.47 |
0.43 |
hCV1844552 |
CAGGCTGCGGGGTGCAGCCCTGCAAGGCCTGGCCCCAGTG[A/T]GACACATAGGGTACCTCAGCTGTGTCAGGAACCCACCCAA |
T |
A |
C__25473883_10 |
|
|
galactokinase
1|integrin, beta 4 |
GALK1|ITGB4 |
Intron |
17 |
74356675 |
0.32 |
0.39 |
0.07 |
0.21 |
hCV25473883 |
GGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAG[G/A]GGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTG |
G |
G |
C____194882_10 |
rs1060120 |
|
H3
histone, family 3B (H3.3B) |
H3F3B |
UTR
3 |
17 |
74370123 |
0.36 |
0.06 |
0.43 |
0.37 |
hCV194882 |
GATTATGAACTTTCTAGAAAAGCGGGTCATTATATTGCAT[T/C]CTTTCATAGGAGCTCATTATCACGACCTGAAAGATACCTA |
C |
C |
C__11957974_10 |
rs1060113 |
|
H3
histone, family 3B (H3.3B) |
H3F3B |
UTR
3 |
17 |
74370278 |
0.03 |
0.18 |
0.42 |
0.36 |
hCV11957974 |
CTTTAAGCAGTTGCTAACTTCAAACGTGGAACGCTTTGAT[A/G]ACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACT |
A |
A |
C__15869341_10 |
rs2071654 |
|
H3
histone, family 3B (H3.3B) |
H3F3B |
Intron |
17 |
74371964 |
|
|
0.41 |
0.36 |
hCV15869341 |
|
#N/A |
#N/A |
C__12130132_10 |
|
|
H3
histone, family 3B (H3.3B) |
H3F3B |
|
17 |
74377629 |
0.38 |
0.18 |
0.47 |
0.43 |
hCV12130132 |
GGAGCACTGCTCTGAGCTGGCATTAGAACCGAACCTAGCT[A/G]TACTAAGTATAAAGGCAAAGTAGTTATGACACTGTTGGCA |
G |
A |
C__11957390_10 |
rs1531268 |
|
|
|
|
17 |
74402736 |
|
|
0.42 |
0.39 |
hCV11957390 |
GCCACAGCTGGTCAACACAGCGGACAGCTGACCGCCGAGG[C/T]CCCTGTGGTCTGTGGTTCCTGCCTTTCAGGCTGGTGTGGG |
C |
C |
C_____21646_10 |
|
|
|
|
|
17 |
74408060 |
0.34 |
0.22 |
0.47 |
0.4 |
hCV21646 |
TTGGCAGGGGTAGTTGCCTGAGATTGTGGCTCCCTTAATG[T/C]CCAGGAGGCACGCTTGGAGGCACAGACCTGGCCATGCCCG |
C |
T |
C__15885531_10 |
rs2290769 |
|
|
|
|
17 |
74423529 |
|
|
0.05 |
0.12 |
hCV15885531 |
GCGAAGCCCCCAGGGTCGCTGAGACAGGAGGGCCAGGACG[C/G]GACCATGGAGAGTGGCCAAAGGCAGCCTCCACTCACCATT |
C |
C |
C___1144070_10 |
|
|
WW
domain binding protein 2 |
WBP2 |
|
17 |
74434265 |
0.41 |
0.21 |
0.31 |
0.48 |
hCV1144070 |
TGGTTGAGGGCCCTGGAGGGTGGATGCCCCCAGACGAAGC[A/C]GTAAGTGACCACAGCCCAGAGCCATGGAGTTGTAGCCTAT |
C |
C |
C___7470232_10 |
rs7370 |
|
hypothetical
protein LOC201292|mitochondrial ribosomal protein L38 |
LOC201292|MRPL38 |
UTR
3 |
17 |
74491927 |
0.27 |
0.19 |
0.14 |
0.21 |
hCV7470232 |
CCACCTGAGAGTCACTTTCACTCCAAGCCCTGGGCCTGAC[G/A]GGAGGGGGCCAAAGAGGGGGGCTGCCTAAGGCAGGGCCCA |
A |
A |
C_____30473_10 |
|
|
|
|
|
17 |
74513546 |
0.05 |
0.24 |
0 |
0.07 |
hCV30473 |
TGGCTATGCAGCAGCTCGGCCTGGAGCTCAGCGGGGCTGC[T/A]CTGAAGTTGCACCTGTGCTGCCAGGAGCTGCTTCTGGTAT |
T |
T |
C__12129212_10 |
|
|
acyl-Coenzyme
A oxidase 1, palmitoyl |
ACOX1 |
|
17 |
74556980 |
0.44 |
0.11 |
0.22 |
0.3 |
hCV12129212 |
AAGACATGCTGAAAAAGCCAGGGCTGTCCTTAGAAGCCTC[A/G]AAAATGGAAATCCCACAAGGTGTCACCACTGGTAGAGACT |
G |
G |
C___1553002_10 |
rs2069528 |
|
cyclin-dependent
kinase 3|envoplakin |
CDK3|EVPL |
UTR
5 |
17 |
74594597 |
0.26 |
0.03 |
0.07 |
0.14 |
hCV1553002 |
AGGAGCAACGGGAGCGCTGGGCGTGGGGTGCAAATTGCCC[A/G]GTGCCTTCTGTTTCCCAGGCAGCTCTGTGGCCATGGATAT |
G |
G |
C___1331520_1_ |
rs2244377 |
|
envoplakin |
EVPL |
Intron |
17 |
74612477 |
0.4 |
0.38 |
0.2 |
0.37 |
hCV1331520 |
GTTGCAGGGAGGGGGATGGCACAGCATCACCCAGGCCACC[A/G]AGCAGAAGCTAGACAGGCCTCAGAGCTCTCCCAGGCTGCC |
A |
A |
C__16035530_10 |
rs2598415 |
|
envoplakin|signal
recognition particle 68kDa|forkhead box J1 |
EVPL|SRP68|FOXJ1 |
|
17 |
74622779 |
0.26 |
0.12 |
0.04 |
0.06 |
hCV16035530 |
GCGAGTCTGAGGTCTGGAACACTCGAGCTTCCTCCCCTCT[G/T]CAGAAGCCCTCCAGGAAGGAAATGAGCACTGCAGGGGGCC |
T |
T |
C__12127863_1_ |
|
|
signal
recognition particle 68kDa|forkhead box J1 |
SRP68|FOXJ1 |
Intron |
17 |
74634035 |
0.37 |
0.16 |
0.4 |
0.45 |
hCV12127863 |
AGATGAACCAAGACAACCCTTTCAACCTTAAAACAGTAGT[G/A]TGGGGTGTGACAGAGAAGGGGAGTGGCAGGAAGGGAAGTC |
A |
A |
C___1331505_10 |
rs1530834 |
|
signal
recognition particle 68kDa|forkhead box J1 |
SRP68|FOXJ1 |
Intron |
17 |
74636990 |
0.39 |
0.18 |
0.41 |
0.49 |
hCV1331505 |
CAGCTGTTGTACCCTCACAGCTCCTCCACAGCTGACTCCA[C/T]AACCTGCCAGGGCTTGCAAACAAGGAGAGGCCAACCTCTC |
T |
T |
C__15908957_10 |
rs2665998 |
|
signal
recognition particle 68kDa|forkhead box J1 |
SRP68|FOXJ1 |
Silent
Mutation |
17 |
74653536 |
0.41 |
0.2 |
0.4 |
0.44 |
hCV15908957 |
GTACATACTAGATTACCTCCAATTTTTCAGCCAAGAGACC[C/T]TCAGTGCCCCCAGACCTCAATCTCATCTGCATGAGTTCAT |
C |
C |
C___1331485_1_ |
rs2246274 |
IMS-JST042133 |
galanin
receptor 2|ligand-gated ion channel subunit|exocyst complex component
7|forkhead box J1|signal recognition particle 68kDa|likely ortholog of mouse
exocyst component protein 70 kDa homolog (S. cerevisiae) Exo70: exocyst
component protein 70 kDa hom |
GALR2|LGICZ|EXOC7|FOXJ1|SRP68|EXO70 |
Intron |
17 |
74678339 |
0.44 |
0.17 |
0.4 |
0.47 |
hCV1331485 |
CCCCTCTAAAGTGGCCATAGTGGGCCCCTAGGAGCAGGTA[G/A]TGGTAGAGGAGGGGGCTTCTCTCTCCACCCCGTGAGTTTG |
A |
A |
C___1331477_1_ |
rs2250081 |
IMS-JST042142 |
exocyst
complex component 7|forkhead box J1|signal recognition particle 68kDa|likely
ortholog of mouse exocyst component protein 70 kDa homolog (S. cerevisiae)
Exo70: exocyst component protein 70 kDa homolog (S. cerevisiae) |
EXOC7|FOXJ1|SRP68|EXO70 |
Intron |
17 |
74687823 |
0.47 |
0.33 |
0.4 |
0.45 |
hCV1331477 |
AATCTGAGGAGACACAGAGGGATAGAGGTACGGCTGCCAG[G/A]CCCTGTCTCTGCCTTGCAGACCCACCATGTCTACCTGTCA |
A |
A |
C___7446992_10 |
|
|
forkhead
box J1|signal recognition particle 68kDa |
FOXJ1|SRP68 |
|
17 |
74733941 |
0.24 |
0.4 |
0.2 |
0.13 |
hCV7446992 |
CAAGGCCCTGGGGTCCCACCCCCATCAGATCTGCCTCCCT[C/G]TTCCTTTCCTCTTCGAGGTTTTATTAGCCAAATGAAGAGG |
G |
G |
C___1331428_10 |
rs1465960 |
|
forkhead
box J1|signal recognition particle 68kDa |
FOXJ1|SRP68 |
|
17 |
74736387 |
0.34 |
0.44 |
0.22 |
0.17 |
hCV1331428 |
GAGAAACAAGTAAAGGACATTTCTAACCTAGGTATGCCTT[A/G]GACATGGGACTGAGGCCTTGAGGAATCTTTCCGTGCTTCT |
A |
A |
C___1331417_10 |
rs1868822 |
|
|
|
|
17 |
74746647 |
|
|
0.2 |
0.17 |
hCV1331417 |
AACACTTCCCAAGCGATGGCCAGCGCTAAAGCAGAAGCAA[C/T]AGGATGACATCTGCTGGTGCGTCTGTATCCAGGCCGGGCA |
C |
C |
C___1331412_1_ |
rs881502 |
IMS-JST041245 |
|
|
|
17 |
74749489 |
0.44 |
0.29 |
0.24 |
0.2 |
hCV1331412 |
CCTGTGCAAGACGACTGGTCAATAGCTCCAGATGACGACA[A/G]GGTGAGATTCTCACTTTCTGGAGTCACACCACATTCCTGG |
G |
G |
C___1331400_1_ |
rs2278824 |
IMS-JST026288 |
|
|
|
17 |
74760613 |
0.29 |
0.4 |
0.12 |
0.23 |
hCV1331400 |
ACCACCATTTGTCACTATACCAAGATGGCACAATTTGAAG[A/G]GAAAAGGTAAAGGGTAGGGCTTTGTAGAAGAAAGTCTAAA |
A |
A |
C___9252808_10 |
|
|
|
|
|
17 |
74786648 |
0.38 |
0.41 |
0.13 |
0.22 |
hCV9252808 |
TCTCTTATCTACAAATCCCAAAGCACTTGAAGTAAATACA[A/G]TTAGGATATATCTCACTTGGTCGTGACCCAGAAGAATTAT |
A |
A |
C___1143380_10 |
|
|
|
|
|
17 |
74809423 |
0.43 |
0.23 |
0.46 |
0.41 |
hCV1143380 |
AATTGTCTAGGTTGACCTCAGTGTGGGACCACTGAGTTTC[C/A]AGTACCTGTGAGATCTCAGGGGAGGGATCTGGGGCAGTAA |
A |
C |
C___1143371_10 |
|
|
|
|
|
17 |
74821528 |
0.47 |
0.34 |
0.47 |
0.4 |
hCV1143371 |
TCAAGTCCCAACCCCAACCCTGTACCCTTCTTCCTTGTGG[T/C]GCTCTCAGAACCCTTATGCATTACAATAGTTTCAACACCT |
C |
T |
C___1143357_10 |
|
|
|
|
|
17 |
74839305 |
0.41 |
0.23 |
0.49 |
0.32 |
hCV1143357 |
GACTCCAGCTGCCCTTCTTGGAGAAACAGACCAGACCAAA[T/C]AGGCACAAAGCCCAGCGTCTGCCTCTTGCTACCTAGAAAA |
C |
T |
C___1143333_10 |
|
|
hypothetical
protein DKFZp434P0316|hypothetical protein MGC29814 |
DKFZP434P0316|MGC29814 |
|
17 |
74867192 |
0.4 |
0.46 |
0.41 |
0.49 |
hCV1143333 |
TCTGGAGGCACGTGGGGGGCTGCCTGGCCAACAGCGGGTA[T/C]TTCCCTTTCCCTCCATCTTCCTGAGCCAGGACTGTCAGAG |
T |
T |
C___1143269_1_ |
rs2279054 |
IMS-JST026598 |
hypothetical
protein DKFZp434P0316 |
DKFZP434P0316 |
Mis-sense
Mutation |
17 |
74884717 |
0.3 |
0.44 |
0.49 |
0.42 |
hCV1143269 |
TCACCTGGGCCAGGTGATGCCACATGCTGTTGATCTGGGT[A/G]TGTAGATCCCAAACCTGTACTCAGTGGTATTGGGCTGTGC |
G |
G |
C____540013_10 |
rs419793 |
|
hypothetical
protein DKFZp434P0316|phosphoribosyl pyrophosphate synthetase-associated
protein 1 |
DKFZP434P0316|PRPSAP1 |
Intron |
17 |
74910209 |
0.16 |
0.14 |
0.1 |
0.02 |
hCV540013 |
AAACAGCAAAAAAGAACTATGAGAAAATTCATTCCTTACC[C/T]ATTTTGACCTTTGTCTATTTCTAGTTCAATGAAATGTCAA |
T |
T |
C____540015_10 |
rs421578 |
|
phosphoribosyl
pyrophosphate synthetase-associated protein 1 |
PRPSAP1 |
Intron |
17 |
74911896 |
0.15 |
0.16 |
0.09 |
0.03 |
hCV540015 |
CAAGAAATAATTTTTTCAGAATTTTCTTGGCTAAGCCTAT[C/T]AAAGAGAGTCACAGAAAGCAATGTGATGATAACTGTGAAA |
C |
C |
C___1143292_1_ |
rs383048 |
IMS-JST063395 |
phosphoribosyl
pyrophosphate synthetase-associated protein 1 |
PRPSAP1 |
Intron |
17 |
74925809 |
0.32 |
0.39 |
0.23 |
0.09 |
hCV1143292 |
CAATGGCACCTCATGAAGGCAGGGGAAGCTTTCTGACTTT[T/C]TGTAGCTGAGTAAGCCCTAGCTTTCATCTGAGGTTACTCC |
C |
C |
C___1143414_10 |
|
|
sphingosine
kinase 1 |
SPHK1 |
|
17 |
74970096 |
0.2 |
0.36 |
0.15 |
0.11 |
hCV1143414 |
GCTGTAGCCTCGGCAGAAGGGGACCCGCCTCTCTCCTCAC[C/G]AGTATCCAGGATGTGGGACTGGATATTGACCAGACCAGAA |
C |
C |
C___1143422_10 |
rs874530 |
|
likely
ortholog of mouse ubiquitin-conjugating enzyme E2-230K|sphingosine kinase 1 |
E2-230K|SPHK1 |
|
17 |
74974430 |
0.46 |
0.21 |
0.44 |
0.35 |
hCV1143422 |
ATCTGGCAGCCTTGACTCCAAGTTTCTGGAGAGCTGGGAC[C/T]AGGCCAGGTGAATGCCTGCTTTCTTTCTCGGGAAAAGAAA |
T |
T |
C___1143426_1_ |
rs3744037 |
|
likely
ortholog of mouse ubiquitin-conjugating enzyme E2-230K|sphingosine kinase 1 |
E2-230K|SPHK1 |
Silent
Mutation |
17 |
74980598 |
0.2 |
0.24 |
0.38 |
0.42 |
hCV1143426 |
AGGGCAGGCATATGGAGTATGAATGCCCCTACTTGGTATA[T/C]GTGCCCGTGGTCGCCTTCCGCTTGGAGCCCAAGGATGGGA |
C |
C |
C___1143437_10 |
rs445683 |
|
likely
ortholog of mouse ubiquitin-conjugating enzyme E2-230K |
E2-230K |
Intron |
17 |
74998645 |
0.3 |
0.44 |
0.48 |
0.44 |
hCV1143437 |
ACCCCCTGCAGAGCTGGCCAGTTCTCCCACATGCAGAGTG[C/T]GAGGTGGGCAGGCTCAAGTCCCTAAGGTGGCTGCCCCCAG |
C |
C |
C___1143463_10 |
rs1533570 |
|
likely
ortholog of mouse ubiquitin-conjugating enzyme E2-230K |
E2-230K |
Intron |
17 |
75019100 |
0.48 |
0.26 |
0.48 |
0.45 |
hCV1143463 |
CCATCCTGTCTCTCTAACTCAGACTTTCCTCTGCCGCTCA[C/T]CTGTGTCAGATCCCGTTTCCTGGATCCTGGGAAAAGTCCC |
T |
T |
C___2132962_10 |
|
|
hypothetical
protein FLJ22341 |
FLJ22341 |
Intron |
17 |
75086954 |
|
|
0.2 |
0.1 |
hCV2132962 |
GCTGGTGGCAAGTGGGCGCAGACACGATCTCAACCCACTC[C/T]GCCGGTACACGCTTCAGCCCACAGCTGCTGATGGAGAGAA |
T |
T |
C___2132979_10 |
rs1965837 |
|
|
|
|
17 |
75106246 |
0.42 |
0.48 |
0.24 |
0.13 |
hCV2132979 |
CAGATGAGGCCCGTCTAGAAGAGACCCTCCCTACCTCAGG[A/G]ACCCCGTCCTTGCTCATCTGAACTCACCCCGCTGTTCACA |
G |
G |
C___2132994_10 |
|
|
cytoglobin |
CYGB |
Intron |
17 |
75123761 |
0.19 |
0.13 |
0.07 |
0.05 |
hCV2132994 |
TCTAGCCCTATTGAGGCAGAGGGCATTTAGCAGCACTGGT[C/T]GGCATGAGATGAAAAAACAGCCCCTTGTGATTGGCACCCA |
T |
T |
C___2132997_10 |
|
|
cytoglobin |
CYGB |
|
17 |
75139006 |
0.38 |
0.46 |
0.14 |
0.13 |
hCV2132997 |
GTAAGTGTCCCATATATGTGAGCTGGCACAATCCGGTTTG[A/C]ACTGTAAATTACTGAACAGTGGTAGATTCAGGACGGCTAG |
A |
A |
C___2133020_1_ |
rs3744050 |
|
cytoglobin|sialyltransferase
7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl
galactosaminide alpha-2,6-sialyltransferase) B|sialyltransferase |
CYGB|SIAT7B|STHM |
|
17 |
75155099 |
0.43 |
0.34 |
0.23 |
0.17 |
hCV2133020 |
TGATTATGGCTCTGAGGATACAGGCTGTATGAGGTGGCAG[A/G]AATGCACAAGTACCCAGGATTTGATTTATGCCCATATTGT |
G |
G |
C__16173149_10 |
rs2120886 |
|
cytoglobin|sialyltransferase
7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl
galactosaminide alpha-2,6-sialyltransferase) B|sialyltransferase |
CYGB|SIAT7B|STHM |
Intron |
17 |
75160298 |
0.41 |
0.15 |
0.21 |
0.22 |
hCV16173149 |
|
#N/A |
#N/A |
C___3197033_1_ |
rs2241918 |
|
cytoglobin|sialyltransferase
7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl
galactosaminide alpha-2,6-sialyltransferase) B|sialyltransferase |
CYGB|SIAT7B|STHM |
Intron |
17 |
75160776 |
|
|
0.11 |
0.14 |
hCV3197033 |
AATCAACTTTGATTTCAAGAACCTGGAAGCAAAAAGAGAC[G/A]TTTCAGCTCACTAGCTTGATGGCTATCATCACACTTCACA |
A |
A |
C___2133033_10 |
|
|
cytoglobin|sialyltransferase
7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl
galactosaminide alpha-2,6-sialyltransferase) B|sialyltransferase |
CYGB|SIAT7B|STHM |
Intron |
17 |
75165630 |
0.39 |
0.41 |
0.21 |
0.2 |
hCV2133033 |
GTCACAAGCGTTGGGTAAATGCTGGCCATTCACATCCCAT[G/A]CTGCAGAGGAGTCCCGTGACGCCTGAATCAGCAGGGAGTC |
A |
A |
C___2133049_10 |
|
|
sialyltransferase
7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl
galactosaminide alpha-2,6-sialyltransferase) B|sialyltransferase |
SIAT7B|STHM |
|
17 |
75181497 |
|
|
0.14 |
0.21 |
hCV2133049 |
TCCCTGGGTTATAATCTGAGCTACTCCTGCATCAGTAACC[A/C]AGATTCTCTTGTGTTCCTGGCTTTCTTCCCAGCAAAACTC |
A |
A |
C__11446267_10 |
rs1860350 |
|
|
|
|
17 |
75206690 |
0.08 |
0.31 |
0.22 |
0.14 |
hCV11446267 |
GAGTGGCGCTGAGGAGCATTTGCAGGTTTTTGGAATTTCC[G/A]ATCAAAGGTGGAGGCAGGGTTTACACCCAAACCTAGAACA |
G |
G |
C___2598781_10 |
|
|
sialyltransferase
7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl
galactosaminide alpha-2,6-sialyltransferase) A|GalNAc alpha-2,
6-sialyltransferase I, long form |
SIAT7A|ST6GalNAcI |
Intron |
17 |
75232146 |
0.26 |
0.5 |
0.26 |
0.18 |
hCV2598781 |
TCTGCTACACTCCTCCCACCATCCTATTTGTTGCCAAGTC[A/C]AGCTGATCTGACTTCTTCTCAGTCCTTTCTTCCTGTTCAA |
C |
C |
C__11685371_10 |
rs2410994 |
|
sialyltransferase
7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl
galactosaminide alpha-2,6-sialyltransferase) A|GalNAc alpha-2,
6-sialyltransferase I, long form |
SIAT7A|ST6GalNAcI |
|
17 |
75239769 |
0.47 |
0.4 |
0.3 |
0.27 |
hCV11685371 |
AGAGAAGTGCATGAGCACAAAGTAATTTAGATTGTTTTTC[T/A]TTTGCTTCTTTCAAGATTTTTCTCTATCTTTGGCTTTCAG |
A |
A |
C____340499_1_ |
rs2286593 |
IMS-JST037180 |
FLJ46603
protein |
FLJ46603 |
Intron |
17 |
75278558 |
0.29 |
0.38 |
0.48 |
0.45 |
hCV340499 |
CCCTCTCGTTCCATAGCTTTCCCTTAAATCCTACAACGAG[A/G]CAGCCAGAGAGAAAGCAGTCCTACTCCTAGTCCACAGCTG |
A |
G |
C___2598727_1_ |
rs2286589 |
IMS-JST037176 |
FLJ46603
protein |
FLJ46603 |
Intron |
17 |
75281203 |
0.39 |
0.23 |
0.42 |
0.26 |
hCV2598727 |
TGGCGCCAGACTCTACCTCTCATGCCCCACTCAGGCCACT[A/G]TCCCACCCCATCCCTCCCCTCGGCACTCGAACCCCAGCTC |
A |
A |
C____349632_1_ |
rs2240775 |
IMS-JST012437 |
phosphatidylserine
receptor|FLJ46603 protein |
PTDSR|FLJ46603 |
|
17 |
75307251 |
0.46 |
0.26 |
0.3 |
0.23 |
hCV349632 |
CAGTGCCTGGCCCTCAAACACCTATTGAACGCTTGAATTA[T/C]TAAGACACGGACAGCTGCAAGAATACAGCAAAATGTGAAT |
C |
C |
C___2598689_1_ |
rs2286585 |
IMS-JST037172 |
phosphatidylserine
receptor|FLJ46603 protein |
PTDSR|FLJ46603 |
|
17 |
75309433 |
0.48 |
0.3 |
0.3 |
0.22 |
hCV2598689 |
GGGTCACTGCCACTGAATGCATTTGTGGGCTGATGATGAC[G/A]TACAGGAAGAAGGGCAGACTCCAAGTCCTTCCGACACATA |
G |
G |
C___7446439_10 |
rs1507072 |
|
|
|
|
17 |
75410270 |
0.38 |
0.21 |
0.49 |
0.5 |
hCV7446439 |
ATTCAGGGAAAATTGAAAACCTTTCCAGATATTACTGTTT[T/C]GAAAGTGGTTTTGCCAAAAAATATAACAGCAAATAAACTC |
C |
C |
C___1940095_10 |
rs1982303 |
|
mannosyl
(alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase,
isoenzyme B |
MGAT5B |
Intron |
17 |
75473193 |
|
|
0.3 |
0.39 |
hCV1940095 |
GGAGGGCCTGAGAGGCTGGAGAGACCTGAGTTAGTGTCAT[T/C]TAACGCTAGTATGAAATTTCCCGGTCCCAGCTGAGTTTTT |
T |
T |
C___1940117_10 |
rs573569 |
|
mannosyl
(alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase,
isoenzyme B |
MGAT5B |
Intron |
17 |
75486367 |
|
|
0.43 |
0.4 |
hCV1940117 |
TGAGTGGCTCAGTGATACCCTTTGATGTACCCCAGGGTCA[G/A]CCCACACAGACACACCCCAGGTTGCTCTCTCCTCTGCCCC |
G |
G |
C____948795_10 |
rs547736 |
|
mannosyl
(alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase,
isoenzyme B |
MGAT5B |
Intron |
17 |
75493442 |
|
|
0.09 |
0.1 |
hCV948795 |
ATGAGTTTTGGATAGATGAAAAATACTCCTACTTCCTTCT[G/T]CCTGAGGACTTTTTGAGCAAATGAAGCAGGTAGCTTTTAC |
G |
G |
C____948824_10 |
rs525503 |
|
mannosyl
(alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase,
isoenzyme B |
MGAT5B |
Intron |
17 |
75500198 |
0.12 |
0.25 |
0.08 |
0.1 |
hCV948824 |
CTGTCACCAAGGACTCTGGGTTTGCCTGAGAGTGTCTGCC[A/G]ATCTCTCTGCCTCCTCCCCAGATGAAACCTTAACTTGAAC |
G |
G |
C___9251023_10 |
|
|
mannosyl
(alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase,
isoenzyme B |
MGAT5B |
Intron |
17 |
75518080 |
0.3 |
0.48 |
0.37 |
0.34 |
hCV9251023 |
CACTTCCTTTCTGAGAGTCTGTGCTAAGCTCTCTGCACTT[G/T]TACAGTTCATTCTGGGCTCTAAGGAACTGGGGTGGCCGGT |
T |
T |
C___9249927_10 |
rs1470367 |
|
mannosyl
(alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase,
isoenzyme B |
MGAT5B |
Intron |
17 |
75522983 |
0.46 |
0.29 |
0.5 |
0.44 |
hCV9249927 |
AAGCCAAGAGCTCCTGGGGGCAGAGCGAGGGTAAGGCCAG[A/G]AGAGGCAGCAGCCCCCCAGTTAGCTCCCTGGAGAAATCAG |
C |
C |
C___9251880_10 |
rs531319 |
|
SEC14-like
1 (S. cerevisiae) |
SEC14L1 |
|
17 |
75681405 |
0.45 |
0.29 |
0.29 |
0.24 |
hCV9251880 |
AGGGGGTATCCCAATAGGCCAGGACGGCCTGCATCTTCAC[A/G]TAGCCCCTCTGCTCTTGAGCTTTCTCCTTCCTGCCACCTG |
A |
A |
C___9251868_10 |
rs555355 |
|
SEC14-like
1 (S. cerevisiae) |
SEC14L1 |
|
17 |
75688342 |
0.21 |
0.06 |
0.06 |
0.07 |
hCV9251868 |
GCTGCTGCCCATGTGCACAGTTCCTCGAGGAGTTGGTTCA[A/T]TCTTGGTTTGGGAGTTTGATTGGAAGGATTAGATCCTAGG |
T |
T |
C___1732995_10 |
rs2139461 |
|
SEC14-like
1 (S. cerevisiae) |
SEC14L1 |
Intron |
17 |
75753528 |
0.34 |
0.3 |
0.45 |
0.21 |
hCV1732995 |
ATTTCTCTTTTACACTCTGGAAAGTAAAACCGTACTCTGC[C/T]AAGTCCAGGCGGATCTGAAGGGGAATATGCACACTGCTAT |
T |
T |
C____480604_10 |
|
|
SEC14-like
1 (S. cerevisiae) |
SEC14L1 |
Intron |
17 |
75774438 |
|
|
0.11 |
0.07 |
hCV480604 |
CTTGCTGATGCTCTCCCTGCCAGGAATGTTCTTCTCTCTC[C/T]GGGTTTCTCTTTAGAGCCCTCTGCAGACATCACCACCCCA |
C |
C |
C___2741462_10 |
|
|
SEC14-like
1 (S. cerevisiae) |
SEC14L1 |
Intron |
17 |
75804353 |
0.33 |
0.34 |
0.48 |
0.2 |
hCV2741462 |
TGAAGTGGCGTTTCAGTGGTGAGGTGGCAGTGGTGGGATT[G/A]AAGGGGCCCGGCTCGTAGAGCAGCCACGCGCTGAAGGGCA |
A |
A |
C___2741537_10 |
|
|
MLL
septin-like fusion |
MSF |
|
17 |
75903644 |
0.5 |
0.34 |
0.24 |
0.25 |
hCV2741537 |
CCTGCCTGTGCCCACAACGTGACGGCGTGGAGACTTATCC[G/A]TGTAGATCCACGAAGCCTTGGTTCACTTATTTTGGCAGCT |
G |
G |
C___2741555_10 |
rs1436138 |
|
MLL
septin-like fusion |
MSF |
Intron |
17 |
75914003 |
0.34 |
0.47 |
0.44 |
0.5 |
hCV2741555 |
AGCCAAAGTCTGTCTTCAAGGCTGCCTCGGTCTCCTACCT[A/G]AAATAGCATTTCTGTGCCTTCCTGGCAGTTGATTATAGAG |
G |
A |
C___9251647_10 |
rs920131 |
|
MLL
septin-like fusion |
MSF |
Intron |
17 |
75924456 |
0.07 |
0.21 |
0.36 |
0.31 |
hCV9251647 |
TAATAATAAAAACTACAGCTTCAGAATGATTGACTTCAGC[A/T]TGTTTATAAAGTCAAGGGTCTTCAGTGTCCTGGGCCTATG |
A |
A |
C___3144844_10 |
rs367539 |
|
MLL
septin-like fusion |
MSF |
Intron |
17 |
75947995 |
0.28 |
0.27 |
0.19 |
0.2 |
hCV3144844 |
TGCTTGTGTGTTTGCCACAGACAGTGGAGGGCGGTGCAAT[C/T]GTGACGCCTGCTTGTTGCACTTTGCGTCCTTGAGGACGTT |
T |
T |
C___1959710_10 |
|
|
MLL
septin-like fusion |
MSF |
Intron |
17 |
75967591 |
0.3 |
0.21 |
0.38 |
0.23 |
hCV1959710 |
GTCTCTGAGCCTGTGAGTGCGTGCGCTTTCCTGCGTCCTC[G/T]TGACTGCCGGTGCTGGGGCTCTGCGTCCTGCGTCCGCGGG |
T |
T |
C___1959653_10 |
rs387774 |
|
MLL
septin-like fusion |
MSF |
Intron |
17 |
75988027 |
0.22 |
0.33 |
0.43 |
0.3 |
hCV1959653 |
CCTTAACAATGGTCCCTTGTGCGGCACATTCCTCTCTAAA[C/T]AGGCCCAGGTCCAGGCTGCTCCTGTTTCGACCCCGCCATG |
T |
T |
C___3144832_10 |
rs1075457 |
|
MLL
septin-like fusion |
MSF |
Intron |
17 |
75997860 |
0.34 |
0.35 |
0.48 |
0.45 |
hCV3144832 |
CCTGGAGAGGGTGTGGGTTTGGGGGGAGACCAGTGCTCCT[C/T]ATGCTTTCATGGGCATGTGGAGTGCACATTTGTCTTGGCG |
C |
C |
C___1959610_10 |
rs397481 |
|
MLL
septin-like fusion|hypothetical protein FLJ12190 |
MSF|FLJ12190 |
Intron |
17 |
76019192 |
|
|
0.23 |
0.12 |
hCV1959610 |
GGAGTGTGTGCGGCTGTGAGTTCAGGCCATGCCCTCAGAC[A/T]GGAGGATAGGATCGGAACAGTGGGTCAGGATGGCCAGAGG |
A |
A |
C____958204_1_ |
rs312895 |
IMS-JST027013 |
MLL
septin-like fusion|hypothetical protein FLJ12190 |
MSF|FLJ12190 |
Intron |
17 |
76021167 |
0 |
0.5 |
0.28 |
0.12 |
hCV958204 |
CTCGGGTCTGTTTAACCAGCGCCCCTCCCCAGGCCCAGTT[T/A]GCCTGGTTTTCGTTCGATTCATTTATTGTCATCAGTGCCA |
T |
T |
C___1959740_10 |
rs378578 |
|
MLL
septin-like fusion |
MSF |
Intron |
17 |
76081823 |
|
|
0.47 |
0.47 |
hCV1959740 |
GCTGTGGCATCTCCGCTCAGCAAGCCAGACCTCCCAGGGC[A/G]TGCATTTCATTGGAAGGTGGGGTGTTGGGCTCTGAGTCCT |
G |
A |
C___1959753_10 |
rs9038 |
|
MLL
septin-like fusion|hypothetical protein FLJ23416 |
MSF|FLJ23416 |
UTR
3 |
17 |
76092520 |
|
|
0.07 |
0.12 |
hCV1959753 |
GAGCAGAAAGTGCCTTTATCTCAGCCATCCGCAGACTGCT[C/T]GGCCAGATGCGGGGACAGGCTGGAATGAGGGAGGCGTCTT |
T |
T |
C____958295_1_ |
rs368116 |
|
MLL
septin-like fusion|hypothetical protein FLJ23416 |
MSF|FLJ23416 |
UTR
3UTR 3 |
17 |
76092898 |
0 |
0.23 |
0.06 |
0.07 |
hCV958295 |
TGTCCATGTGTATGCGTGTCCGTCTGTCTGTCTAGTGTCT[A/G]GGTTTGGCCCAAGACTGGGCTGTAGTTACATTAATGCCCA |
A |
A |
C___7447190_10 |
rs877159 |
|
|
|
|
17 |
76126088 |
0.11 |
0.39 |
0.41 |
0.39 |
hCV7447190 |
TTACCAGTCAGGTCATATGTCTAGGGAGACACTATTGCTA[T/C]AGGTGTCAAGAAGTTTTGCTCCAGAAAAATGTCCAGACCA |
T |
C |
C___1140336_1_ |
rs2304925 |
IMS-JST062050 |
|
|
|
17 |
76148790 |
0.42 |
0 |
0.24 |
0.39 |
hCV1140336 |
TTCGAGTGTAAGACATAATAACATGTTCATCATGGAAAAT[C/A]ATTAGCGGTGGAGTGGGGCCGGGATGGCCTGCTGCCTGCC |
A |
A |
C___1140337_1_ |
rs2304924 |
IMS-JST062049 |
|
|
|
17 |
76149031 |
0.45 |
0.3 |
0.39 |
0.47 |
hCV1140337 |
GTGGGTCTCCTGTAGCCCCCGAGCCCCCTCCACTCTGTCC[C/T]GGGCCAGCCTCTCCTTTTTGGCTCCTCCAAGTGGGCAGTA |
T |
C |
C___2092398_10 |
|
|
|
|
|
17 |
76407117 |
|
|
0.09 |
0.2 |
hCV2092398 |
GCCACTCCTTGTCTAACTTGGGCGTTAAGTAGGACTTTTT[G/A]TTATTAAGATGGTGAACTTTTAGAATGTTATTTTTATCAT |
G |
G |
C__15765494_10 |
rs2311443 |
|
KIAA1582
protein|hypothetical protein FLJ20015 |
KIAA1582|FLJ20015 |
Intron |
17 |
76651872 |
0.06 |
0.07 |
0.19 |
0.18 |
hCV15765494 |
GTAAAATATCATTACATATGCCAATCAGAAAACTGGCAGG[C/G]AGTATACTGCTAATACTGATCTTAGTCTAGAATTTGTTGT |
G |
G |
C__15765482_10 |
rs2311440 |
|
KIAA1582
protein|hypothetical protein FLJ20015 |
KIAA1582|FLJ20015 |
Intron |
17 |
76664408 |
0.05 |
0.06 |
0.19 |
0.18 |
hCV15765482 |
CGGTAACTGGCGTCGTAGTTTACTGCTACCCACCATGCTT[C/G]CCAAAATGAAATGCCCTCATTGTTTCCTCTCCATGTTTGT |
G |
G |
C__15841560_10 |
rs2871764 |
|
KIAA1582
protein|hypothetical protein FLJ20015 |
KIAA1582|FLJ20015 |
Intron |
17 |
76664578 |
0.11 |
0.27 |
0.37 |
0.35 |
hCV15841560 |
GGTTAGAGATCATTGCTTTGAACTACAGCAAAGACCCACA[C/T]AATTTCTATCAAAAAGGGTGTGAGAGCCTTTTCCTAGAAT |
T |
T |
C___1682713_10 |
|
|
KIAA1582
protein|hypothetical protein FLJ20015 |
KIAA1582|FLJ20015 |
Intron |
17 |
76679151 |
0.06 |
0 |
0.37 |
0.35 |
hCV1682713 |
GAAAAATATTTGCTGACCAACATCATCACCAACACTAAAC[A/G]GGTATTGACTCTGTGATTTTTTTTAGTTCTGCGCACTAAA |
G |
G |
C__15964119_10 |
rs2290907 |
|
KIAA1582
protein|hypothetical protein FLJ20015 |
KIAA1582|FLJ20015 |
Intron |
17 |
76690800 |
0.1 |
0.28 |
0.34 |
0.28 |
hCV15964119 |
GGTACAGGGACCCAGAGTAGGAGGCATGCCCCGTTTCTTC[C/T]TTCCCACATGTCACTTTCATGTTCAGGCTTCTATTAAAAA |
C |
C |
C___7447130_1_ |
rs1048591 |
IMS-JST068758 |
epidermodysplasia
verruciformis 1|KIAA1582 protein|hypothetical protein FLJ20015 |
EVER1|KIAA1582|FLJ20015 |
|
17 |
76700807 |
0.05 |
0.1 |
0.14 |
0.11 |
hCV7447130 |
CTCAGAGCTCACATACGTACCTCTCTCACGAGTGAACTCA[C/G]ATTTTCCATTGTTTTGCTTTATTCTATCATTTGCTTTGTG |
C |
C |
C__11489838_10 |
|
|
epidermodysplasia
verruciformis 1|KIAA1582 protein|hypothetical protein FLJ20015 |
EVER1|KIAA1582|FLJ20015 |
Intron |
17 |
76708683 |
0.5 |
0.42 |
0.16 |
0.18 |
hCV11489838 |
GGCAGAGCCCAGCAGCAGGACGCAAGCCTGGAAAAGCCAC[A/G]GGACCTGCTTCACGGGGGGCCGTTCCCCAGGGGAGGGGCC |
A |
A |
C___3068829_1_ |
rs2073284 |
IMS-JST009570 |
epidermodysplasia
verruciformis 1|epidermodysplasia verruciformis 2 |
EVER1|EVER2 |
Intron |
17 |
76714524 |
0.42 |
0.23 |
0.38 |
0.46 |
hCV3068829 |
TGGCCCTCCCCAGGCCTCAAGTTCAAACCACACAGGAAGC[G/A]GGGAGGGGTACAAGTAGTGGAAAAGAAACCAGAAACCAAA |
A |
A |
C____806043_10 |
rs454139 |
|
epidermodysplasia
verruciformis 1|epidermodysplasia verruciformis 2 |
EVER1|EVER2 |
Intron |
17 |
76723217 |
0.08 |
0.13 |
0.23 |
0.07 |
hCV806043 |
CTGGAAACCAGGAAGGAGGTGGGCAGAGAGGCAGAAAAGC[T/C]ATGAACATTCAGACCTGAGATGACTGGGCCCTATAGCAGG |
C |
C |
C___3068817_10 |
|
|
epidermodysplasia
verruciformis 1|epidermodysplasia verruciformis 2 |
EVER1|EVER2 |
Mis-sense
Mutation |
17 |
76727698 |
0.48 |
0.29 |
0.33 |
0.47 |
hCV3068817 |
GCCTGCCGCCTGCTCTCCTACCTGCGGGTCAACGTACTCA[T/A]CGGGCTCCTGGTGGTTGGGGCCATCAGCGCCATCTTCTGG |
T |
T |
C___3068795_10 |
|
|
epidermodysplasia
verruciformis 2 |
EVER2 |
|
17 |
76737431 |
0.29 |
0.2 |
0.5 |
0.45 |
hCV3068795 |
AGTCTGGACAGAGGGGCAGCGCAGCCCAGAGAACTGGTCA[G/A]CCAGACCGGTGCACAAGTGATTCCTGGGGGCGGAGGGGTG |
A |
A |
C___3068774_1_ |
rs2292235 |
|
synaptogyrin
2|thymidine kinase 1, soluble |
SYNGR2|TK1 |
|
17 |
76758004 |
|
|
0.43 |
0.28 |
hCV3068774 |
GCAGGGCAGGGCTGTGGCCAGGGCAAAGAGCGGCCATCAC[A/C]GCTTACGCATGACTCGAAGGTGTTTATGAGGACCTACTGT |
C |
C |
C___3068771_10 |
rs870355 |
|
synaptogyrin
2|thymidine kinase 1, soluble |
SYNGR2|TK1 |
Intron |
17 |
76763319 |
0.38 |
0.48 |
0.43 |
0.42 |
hCV3068771 |
GACTTGGGCTGAAGGTGACGGGGGATGGGTAGTCTTTGTG[A/G]CTTGGCCTGTCTTGGTTAAACCTCTTTCAAGGTGAGGTTG |
G |
A |
C__25758839_10 |
rs4789546 |
|
synaptogyrin
2|thymidine kinase 1, soluble |
SYNGR2|TK1 |
Intron |
17 |
76764516 |
0.06 |
0.2 |
0.13 |
0.15 |
hCV25758839 |
GCAGATGGGCTTTGCCTCTGCCCCTTTTGTCCCCTAGGCT[A/G]TCTGCTGTGGCCCACCCTGCCAAGGCCCGAGTGTGGGGGA |
A |
A |
C___1401935_10 |
|
|
baculoviral
IAP repeat-containing 5 (survivin) |
BIRC5 |
|
17 |
76804647 |
0.24 |
0.48 |
0.26 |
0.28 |
hCV1401935 |
TCGCTGCAGATGGCCCCCTTCCCAGAGACAGGGGAGGATC[C/G]TCCACCCACTCCCCAGCCTCCAGGACCATCCTGACTCCTG |
G |
G |
C___1401915_1_ |
rs1042489 |
|
baculoviral
IAP repeat-containing 5 (survivin) |
BIRC5 |
UTR
3 |
17 |
76817329 |
0.4 |
0.47 |
0.5 |
0.43 |
hCV1401915 |
GCATGACTTGTGTGTGATGAGAGAATGGAGACAGAGTCCC[C/T]GGCTCCTCTACTGTTTAACAACATGGCTTTCTTATTTTGT |
C |
C |
C___1401914_10 |
|
|
baculoviral
IAP repeat-containing 5 (survivin) |
BIRC5 |
|
17 |
76818493 |
|
|
0.27 |
0.26 |
hCV1401914 |
TTTCCTTAAAGGCCATCCTTAAAACCAGACCCTCATGGCT[A/G]CCAGCACCTGAAAGCTTCCTCGACATCTGTTAATAAAGCC |
A |
A |
C___1401908_10 |
|
|
baculoviral
IAP repeat-containing 5 (survivin) |
BIRC5 |
|
17 |
76820336 |
0.1 |
0.02 |
0.09 |
0.03 |
hCV1401908 |
CTCAGCTTTGTCCGGGGAGGAACTTTCACTCTAGAAAACA[T/C]GAACTCATTTCCCTTTGAGGAAGTTGTTTCTCCAGGATAT |
T |
T |
C____656468_10 |
rs744960 |
|
baculoviral
IAP repeat-containing 5 (survivin) |
BIRC5 |
|
17 |
76821885 |
0.08 |
0.13 |
0.37 |
0.33 |
hCV656468 |
GTTGTTCTAAAGTAGTGCCTTTTCATACTGAGCTAGGGTA[A/T]AATTTGGGTCCATTTCAAGGGAAATATACTAGCAGAATTC |
A |
A |
C___1401906_10 |
|
|
baculoviral
IAP repeat-containing 5 (survivin) |
BIRC5 |
|
17 |
76822056 |
|
|
0.23 |
0.26 |
hCV1401906 |
AACCCAGGCTTTCTCATGCAGATGGGGTGTGGATTGCTAA[G/C]GTGGCTGTCTCCTAGCGCTGCAGCATGAGTGAAACACGTG |
G |
G |
C___1559194_10 |
|
|
|
|
|
17 |
76829646 |
0.34 |
0.45 |
0.35 |
0.31 |
hCV1559194 |
GTAACCGGTAACCACCCATCCACTGACGCGGCTCCAGCTC[C/T]GACTACATGCCGAGTGCTGGCCAAGTGCTCCTCCGAAGGC |
T |
T |
C___1402038_10 |
rs1109279 |
|
|
|
|
17 |
76845253 |
0.36 |
0.19 |
0.06 |
0.11 |
hCV1402038 |
GCTCCCCACCAACCCAACAGAAATGGAGGAATGTGGTCCA[C/T]GAGTGTCAGAGCCCCCCCATATGCACTGAGGACCTGCTAG |
C |
C |
C__11488062_10 |
|
|
|
|
|
17 |
76915805 |
0.42 |
0.27 |
0.17 |
0.26 |
hCV11488062 |
GGGAGCCCAGCCTGCCTCCATCCCTGGTCTCAGGCTTGCT[C/T]GGGAACTGACGGGGGTGCTCCTTGACCTCCATCCACCGAA |
G |
G |
C__11488061_10 |
|
|
|
|
|
17 |
76917810 |
0.2 |
0.07 |
0.17 |
0.23 |
hCV11488061 |
TCAAACTGTTTCCAGTGGGTCAGACCTGCCTCCCTCCCTT[T/A]TTTTCCCCTTCTCCTTTTTCAGTTCCAGTTGCCACTGCCC |
A |
A |
C___9249523_10 |
|
|
|
|
|
17 |
76918632 |
0.22 |
0.12 |
0.08 |
0.02 |
hCV9249523 |
GAAGAGGGTGGGGCGAGCTAAGAAGCTAGAAGCGTTTTGC[C/T]GTGAGCCAAGGACGGGAATGCACGATGTACGAGCGAGGAG |
A |
A |
C___7981941_10 |
|
|
suppressor
of cytokine signaling 3 |
SOCS3 |
|
17 |
76943245 |
0.5 |
0.34 |
0.31 |
0.49 |
hCV7981941 |
CCTACAGGGATGGGCTGCCTGTGTGCATGACATCATGAAA[A/G]CAATATTTTTAGAAGATGAGTCTGGCATGGATGGGCCCAT |
G |
A |
C__15969511_10 |
rs2280148 |
|
suppressor
of cytokine signaling 3 |
SOCS3 |
|
17 |
76951503 |
|
|
0.15 |
0.33 |
hCV15969511 |
TCTGCAGGGAGAGGGCAGAGGGAGGGGCCTGTCCGCCCTC[G/T]TTCCCCCCAGAGCTACAGGACTCTCTCCTGGTTGGCTTCT |
G |
G |
C____150655_10 |
|
|
phosphatidylglycerophosphate
synthase |
PGS1 |
Intron |
17 |
76972218 |
0.47 |
0.24 |
0.3 |
0.28 |
hCV150655 |
GGGCTGCGCAGGAGGCCCGCCGGCTGGACCCGGCCGATAA[C/T]GGAGCACGAGCCGCCCACCCTCCCTCAAGAAGGCCAGTGA |
G |
G |
C____167122_1_ |
rs2292640 |
IMS-JST045472 |
phosphatidylglycerophosphate
synthase |
PGS1 |
Intron |
17 |
76993733 |
0.43 |
0.44 |
0.48 |
0.4 |
hCV167122 |
GTCAAGATGCAGTTAACAAATAGCTACTCAGCAATGAACA[C/T]GTGCAAAAGACAAAGCCAGAGTTGATCCAAGGTGACACAG |
G |
A |
C__12126184_10 |
|
|
phosphatidylglycerophosphate
synthase |
PGS1 |
Intron |
17 |
77000151 |
0.42 |
0.33 |
0.44 |
0.33 |
hCV12126184 |
TTGGGTGTTTCTGTTTCAGCGGTAACTGGGGAGTCAGCTC[C/A]CGTTTATCAAAGCCACTTCAGGGAAATAACCCGTGGCAGA |
G |
G |
C___1129099_10 |
|
|
hypothetical
protein FLJ40457|phosphatidylglycerophosphate synthase |
FLJ40457|PGS1 |
|
17 |
77051505 |
0.13 |
0.07 |
0.17 |
0.26 |
hCV1129099 |
TGGAAGCCACGTGGTGGCTGAAAGTGGGTTATGACCGAGT[A/C]ATGCCCCGGATCAAGCCCCGTGGGACCCAGTGTCCCAGGC |
C |
C |
C__15882509_10 |
rs2289756 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77053258 |
|
|
0.24 |
0.23 |
hCV15882509 |
|
#N/A |
#N/A |
C___1129097_10 |
rs640292 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77055033 |
0.27 |
0.47 |
0.32 |
0.29 |
hCV1129097 |
GGGAGCCACAGAGGGGCAGAACGGCAGGGCCGTGTCTTAC[G/C]ACTCCCAGTGACTCGTTTTGGAGAGTCTTTTCAATATCTT |
G |
G |
C____529595_10 |
rs692308 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77065069 |
|
|
0.33 |
0.13 |
hCV529595 |
ATGCTGCTGAGGCTGGCCCCCACATCTCTACCCGCATCCT[A/G]TCCCTGCACTTCCCAGCCCCATGTGTCCCGCTGTGCGATG |
G |
G |
C___7471061_10 |
rs894976 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77082784 |
0.36 |
0.36 |
0.17 |
0.2 |
hCV7471061 |
CATCCCAGACACCCAGCAACAAAAGCTTCAGGAGGGAGCA[C/T]TCACCTCAGTAGGATGGCACCCAGAGTCAAGCCAAGGACA |
G |
G |
C___1128925_10 |
rs691548 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77082900 |
0.48 |
0.38 |
0.38 |
0.4 |
hCV1128925 |
GAGTGATGAAAAAAGCTGGTTTTCTGAGAAAAACCAGCAC[C/T]GTGGGGGAGGAAGAAGAATATGTGAGGGATTCACAGGTGG |
G |
G |
C___1128961_10 |
rs690844 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77095043 |
0.37 |
0.36 |
0.08 |
0.02 |
hCV1128961 |
CGCAGATTAGCCAGCTGAACGTACTCATCACGCTGCTCAT[G/T]GGGAACCTCAACGCTGGCGACAGGATGAAGATCATGACCA |
C |
C |
C___7471090_10 |
|
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77103788 |
|
|
0.34 |
0.38 |
hCV7471090 |
CCTCCAGCAGCCCGGGATCGTGCCCCGGCAATGGCTCTCC[A/G]TGAAGGATCATGACGTCTGCCCACTGCAGAGTGCACATGA |
C |
C |
C___1128988_10 |
rs884714 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77122598 |
0.33 |
0.38 |
0.42 |
0.47 |
hCV1128988 |
GGGAGAGCCATCCCGGCCGCGACCATGGACCAGCCCATCA[A/C]ACGCAACCATGGGGGATGCTGTGGGCTAGATCCTCTCTGG |
T |
T |
C___1129021_10 |
|
|
hypothetical
protein FLJ40457 |
FLJ40457 |
Intron |
17 |
77148570 |
0.29 |
0.27 |
0.41 |
0.25 |
hCV1129021 |
TCTCAGAACACACCTCTTTAGTGTGCTCGTGACTAAATCA[T/C]GGTGCTCCTACCATACCTGGAGTCCAAGGCGGGAGCTCTT |
T |
T |
C___1129030_10 |
rs1530433 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
Intron |
17 |
77156891 |
0.29 |
0.26 |
0.41 |
0.34 |
hCV1129030 |
AAAGGAAGCGAATTCTATTTTCCGCCAAAAGGAGATCATG[C/T]GGAAAATTGCTCTAGAACGTTCCTGGCTGTGTGCGAGTTG |
T |
T |
C___1129035_10 |
rs1473313 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
Intron |
17 |
77157686 |
0.4 |
0.35 |
0.47 |
0.43 |
hCV1129035 |
CAGGAGCCACAGAAGCCAGCTGCCCGCCCGCCCAGCCCAT[A/G]AGCCTGTGCCCCATCTTTAATTTTGGAGACCCAAAAGTGA |
G |
G |
C___1129058_10 |
|
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77168392 |
0.25 |
0.48 |
0.38 |
0.43 |
hCV1129058 |
TGGCACCGCAGGAAATCTCTGTTTCTACCGGAGCAGGAAC[A/C]AAACAGTTGGTCGAGAGTGTGCAGTTTTTAGCTGTGGTTG |
A |
C |
C___7471174_10 |
rs894973 |
|
hypothetical
protein FLJ40457 |
FLJ40457 |
|
17 |
77177781 |
|
|
0.39 |
0.43 |
hCV7471174 |
CCTCCCCAGGCCTATGGATACCCTCATTCCTTTCTTAACA[C/A]CTTCTTTTGTCCCCATATAGCCCATTCTCCAGCATCTTTA |
C |
C |
C__11489729_10 |
|
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1) |
PSCD1 |
|
17 |
77258392 |
0.5 |
0.49 |
0.28 |
0.41 |
hCV11489729 |
GGGACAAGGCTACGCAAGGGGCACCTCTAGCTCATGGCGG[A/C]TAGTTCCGACGCTGCAGCCGTCAGACGTGTTAAATCACAC |
A |
A |
C____154913_10 |
|
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1) |
PSCD1 |
|
17 |
77263309 |
0.49 |
0.38 |
0.23 |
0.38 |
hCV154913 |
CGCTCCCTGCTCCTCCTTCTGAGTGCCACTGTGTGAGGAT[A/G]TGGTATCCCCTCCTTCTAACTGTGCCACGACCGGGTCAAT |
A |
A |
C__12126674_10 |
|
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1) |
PSCD1 |
Intron |
17 |
77286901 |
0.01 |
0.16 |
0.06 |
0.11 |
hCV12126674 |
TGGGGTTGGGGCCGTGAAGTTATGCTGAGACAGACATGAA[A/G]GAAGGAAAAATTTCCCCAAGCCTATCTGAATGAAGCTACA |
A |
A |
C__12126697_10 |
|
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1) |
PSCD1 |
Intron |
17 |
77306438 |
0 |
0.15 |
0.06 |
0.1 |
hCV12126697 |
TGCGTACACCGTTCTACAGAAACGCATGTTTAAAGCAGTT[T/C]ACTCTGATTTTTCTGTGCTTCACAGCCCAGAAAAATTTCT |
T |
T |
C___1466552_10 |
rs1384367 |
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1) |
PSCD1 |
Intron |
17 |
77326880 |
0.5 |
0.19 |
0.48 |
0.39 |
hCV1466552 |
CACAGCGGCCAAGTGCAGCAAGTACTCACAGAATTCCAGG[A/C]GATGCCAAGAGGCTTCAGAGGGGCCAGCCTGTGAGCCAGA |
A |
A |
C___1503869_10 |
rs3936523 |
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1) |
PSCD1 |
Intron |
17 |
77328442 |
0.48 |
0.49 |
0.24 |
0.38 |
hCV1503869 |
TGCCCCACCCCCATCACTCCCACTGTTGATTAGGGTAGTT[T/C]ATGTTGACTTTTGAAGCCTCCAGGATAAAAAGTGACTATT |
C |
C |
C_____20566_10 |
|
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1) |
PSCD1 |
Intron |
17 |
77336264 |
0.49 |
0.21 |
0.49 |
0.43 |
hCV20566 |
TTTATTTAGTGTGGGCATTTGTCCTGTGAGTTACTTAAAA[G/A]TATTCCTTGGCACTTAAAAAAAGTAATTGGAAAATGTTGC |
A |
A |
C___1466548_10 |
rs1871935 |
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1) |
PSCD1 |
Intron |
17 |
77361268 |
0.47 |
0.42 |
0.22 |
0.37 |
hCV1466548 |
CCGATCGTCCTGGAGGTTTACAACACATCACATATGAATG[C/T]TTTCATTCAAGACTGGCTCGGAATCATTGTCCAAAGGTAT |
T |
T |
C__12126963_10 |
|
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1)|ubiquitin specific
protease 36|KIAA1453 protein |
PSCD1|USP36|KIAA1453 |
Intron |
17 |
77370761 |
0.5 |
0.32 |
0.49 |
0.43 |
hCV12126963 |
ATGAATACAAAAGAGTACTGGAACTGAGAAAGCCTTTTTG[T/C]TGGTTTTTGAAATTGTCTTTAATTGGACAGAGAAACTCTA |
C |
C |
C__12126972_10 |
|
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1)|ubiquitin specific
protease 36|KIAA1453 protein |
PSCD1|USP36|KIAA1453 |
|
17 |
77378400 |
0.02 |
0.11 |
0.07 |
0.09 |
hCV12126972 |
GCCAGAGAGGTCCTTTAGCTGTTATCTTTGCATGACATTT[C/G]GAAGCCGAGGCTAATAGACATCCAAATGCAGCCTACTTGC |
C |
C |
C__12126977_10 |
rs747423 |
|
pleckstrin
homology, Sec7 and coiled-coil domains 1(cytohesin 1)|ubiquitin specific
protease 36|KIAA1453 protein |
PSCD1|USP36|KIAA1453 |
Intron |
17 |
77381904 |
0.26 |
0.2 |
0.06 |
0.14 |
hCV12126977 |
ATGAAGGAAGGAAGGGCCAAGGACGAGATGTGGAGGGACT[T/C]GGGTCCATGGGGTAGGTATTGCTGAGGCCATCAGAACACC |
T |
T |
C___1148107_1_ |
rs2279309 |
|
ubiquitin
specific protease 36|KIAA1453 protein |
USP36|KIAA1453 |
UTR
3 |
17 |
77389956 |
0.02 |
0.09 |
0.07 |
0.11 |
hCV1148107 |
CAGCAGAGCCACACTGAAGGAGGTCTAAGTCCAACACCAC[A/G]TTGTCCATCTCCACCTGCGACGACTCCGGGAGGAAATGAC |
A |
A |
C___1148106_1_ |
rs2279310 |
|
ubiquitin
specific protease 36|KIAA1453 protein |
USP36|KIAA1453 |
UTR
3 |
17 |
77389993 |
0.02 |
0.11 |
0.06 |
0.11 |
hCV1148106 |
CACGTTGTCCATCTCCACCTGCGACGACTCCGGGAGGAAA[T/C]GACGGGGACAGACCCGATGAGGAAGGATGTTCACGGTCAC |
C |
C |
C____267424_1_ |
rs3744801 |
|
ubiquitin
specific protease 36|KIAA1453 protein |
USP36|KIAA1453 |
UTR
3 |
17 |
77390851 |
0.46 |
0.43 |
0.46 |
0.48 |
hCV267424 |
TGAGAAGGCACAGCCTGGCAAAGATGTCCAGCAGGTGTGC[A/G]GCCACCTCTGCTCACACACACACTGTCGTTTCTCTTGCAG |
G |
G |
C____267425_1_ |
rs3744800 |
|
ubiquitin
specific protease 36|KIAA1453 protein |
USP36|KIAA1453 |
UTR
3 |
17 |
77390948 |
0.44 |
0.49 |
0.26 |
0.38 |
hCV267425 |
CACCAAAGAGGTTCCGATCTAGAGAAGCCTCAAAGCCTCT[G/A]TGTTGGGCGGTCTGTGGACACTGGTACCGGGAGAGCTCCT |
G |
G |
C__12126998_1_ |
rs2279308 |
IMS-JST026948 |
ubiquitin
specific protease 36|KIAA1453 protein |
USP36|KIAA1453 |
Intron |
17 |
77392104 |
0.44 |
0.48 |
0.22 |
0.38 |
hCV12126998 |
CCACGCCGCCCTGCTCCCTCAAGCCTGTGGTCAGCATCAC[A/G]CATCATACCTTCCCTCGGTCAAACTCTTCGTCCCAGTCAT |
A |
A |
C____236844_10 |
|
|
ubiquitin
specific protease 36|KIAA1453 protein |
USP36|KIAA1453 |
Intron |
17 |
77402162 |
0.02 |
0.1 |
0.08 |
0.07 |
hCV236844 |
GGAATTACAAGGCTAATTTTCTGGAAATGAAATTACAGAT[T/C]TCATTTTCATGAAATCTGATGCAAAATGCCAAACTGCTTT |
C |
C |
C___1148108_10 |
rs1110274 |
|
ubiquitin
specific protease 36|KIAA1453 protein |
USP36|KIAA1453 |
Intron |
17 |
77407407 |
0.49 |
0.48 |
0.37 |
0.44 |
hCV1148108 |
CTAAGGATGGCACCAGAAGCGGCTGCCTCTTCCGTGTCTC[A/C]CTGCAAGTCTGAGAACACTAGATTCTGGTGCAACACTTCT |
C |
C |
C__15885214_10 |
rs2277703 |
IMS-JST074724 |
ubiquitin
specific protease 36|KIAA1453 protein |
USP36|KIAA1453 |
Intron |
17 |
77432044 |
0.01 |
0.22 |
0.22 |
0.11 |
hCV15885214 |
CTTCTCTTCAGCTACTTCCCAGGGATGCGGCGCGCACCGG[C/G]AACCCTCTACCACGAAAAAGCCGTCCAAGGAGCATCCACG |
C |
C |
C___8753601_10 |
|
|
tissue
inhibitor of metalloproteinase 2 |
TIMP2 |
Intron |
17 |
77455662 |
0.2 |
0.03 |
0.08 |
0.01 |
hCV8753601 |
CTCGCCATGAGGTGAGTCAGCCACTGTGGCCATTAACAGC[C/T]TCACCCCTGCTCCCCCTCCCAGGGAGAGGAGGATGAAGTA |
T |
T |
C____156390_10 |
rs1531794 |
|
tissue
inhibitor of metalloproteinase 2 |
TIMP2 |
|
17 |
77469174 |
0.08 |
0.01 |
0.18 |
0.2 |
hCV156390 |
TCTTCTTTCTTCTTCTGTTGGAGCTGAGTCATGACTGGCC[A/G]AGGCCACAGGTTCCTGTTTCCCAGGCTAATCCAGGCCTCA |
A |
A |
C___1466535_10 |
|
|
|
|
|
17 |
77491603 |
0.42 |
0.38 |
0.47 |
0.41 |
hCV1466535 |
TCCTAGCCTGCTGCCCAGGGAGGTCAGAGCTGGAAACCAC[T/C]TCCACAGCACAAGGAGACTCTGCTTGGACTGTGCTTGGCC |
C |
C |
C____433316_10 |
|
|
lectin,
galactoside-binding, soluble, 3 binding protein |
LGALS3BP |
|
17 |
77559178 |
0.07 |
0.49 |
0.23 |
0.24 |
hCV433316 |
GCCACCGCGCCCATCCCGGATCTTGAGCTTTTCTAACACT[G/A]CAGATCATGTGAGGGTTTTGCAAGCTCCCTGCCTGTTTTG |
T |
T |
C_____23709_10 |
rs3785529 |
|
lectin,
galactoside-binding, soluble, 3 binding protein |
LGALS3BP |
Intron |
17 |
77570079 |
0.11 |
0.41 |
0.33 |
0.36 |
hCV23709 |
CACTAGGGAATCCTCCATTCCGTCCAGAGGGAACCAGAGG[A/G]GCTGATCAAACCAGCAGTCACAGGGGCCGTTGTGAGGTCA |
T |
T |
C____401677_10 |
|
|
ectonucleoside
triphosphate diphosphohydrolase 8|Ca2+-dependent endoplasmic reticulum
nucleoside diphosphatase|Ca2+-dependent endoplasmic reticulum nucleoside
diphosphatase |
ENTPD8|SHAPY|SHAPY |
Intron |
17 |
77599882 |
0.14 |
0.26 |
0.5 |
0.4 |
hCV401677 |
TGTATCATCGATGTTACACCTGGAGGAATTTTAGCCAAAA[A/G]GCGACCTTCTCAGTTGAAAGGCACATTCCAAATGGCACCA |
A |
A |
C__11490067_1_ |
rs3744178 |
|
endo-beta-N-acetylglucosaminidase |
FLJ21865 |
Intron |
17 |
77677715 |
0.05 |
0.14 |
0.04 |
0.07 |
hCV11490067 |
TGGAGCTGGCTTCGATTTCTCAGTGGTCTCTCCACGGCAC[C/T]CATCACAGGACCTTTTTCCCCAGGTTATTTTCCCTGCAGG |
T |
T |
C____175360_10 |
rs10073 |
|
endo-beta-N-acetylglucosaminidase |
FLJ21865 |
UTR
3 |
17 |
77681393 |
|
|
0.04 |
0.12 |
hCV175360 |
GTAGCCACTCACTCGACTTTTTTTCAGCTGTGACCATTCC[C/T]GGGAGCTCTTTGAGCCTTTCTGTCTCATTTGGAACCAGGG |
C |
C |
C___1689284_10 |
rs2707031 |
|
|
|
|
17 |
77703799 |
0.4 |
0.21 |
0.3 |
0.24 |
hCV1689284 |
TCCCTTCGTTCCTCCAAAGACCTCCTAGGCACTCAGGCAA[C/G]GACCTGCCTTGGTGAGCCGCTGGTGGGCAGCCAGTCAGCC |
C |
C |
C___1689285_10 |
|
|
|
|
|
17 |
77707163 |
0.1 |
0.23 |
0.26 |
0.28 |
hCV1689285 |
CCAGGAGGCATCTGGCCTCGGTTCTGTTGTTCAGTTAGAG[T/C]GCTAGGTCCGTCCCCAAGCTGTGTTATCTGTGTGTCTGAC |
C |
C |
C___1689309_10 |
rs1795958 |
|
|
|
|
17 |
77724783 |
0.47 |
0.4 |
0.27 |
0.08 |
hCV1689309 |
CGCTCACTCCAACTCCAAACCTGGGCCTGGTCTCTCACAC[G/T]TTAGGAAGCCACGGATCATGTTTTCATGCACGGGTATTTT |
T |
T |
C___1689314_10 |
rs1870625 |
|
|
|
|
17 |
77728213 |
|
|
0.26 |
0.26 |
hCV1689314 |
GGGGACTCTGAGTGCCGTCCTCTGAGAATCACAGTGAGTG[G/T]GACCCCATCTGATCCCACAGATGGTGAGGTTGAGGACACT |
T |
T |
C___1689347_10 |
rs881528 |
|
|
|
|
17 |
77751845 |
|
|
0.29 |
0.14 |
hCV1689347 |
GTCTGCTCCCGACAGCCCTTGCTAAGGACGCCCGACCAAG[A/G]CTGGCAAGGAAGGTGGCTAGGGCTCAGAGCTCACTGTTTT |
A |
A |
C___1689348_10 |
rs2612782 |
|
|
|
|
17 |
77752055 |
0.14 |
0.4 |
0.43 |
0.35 |
hCV1689348 |
ACCTGGCTCAGCCCACGTGGCAGTCACTTCTCTAACTTCC[C/T]AACTGCGGCCCCAGGATGGCTGCTGGGACTCCCAGAGATG |
T |
T |
C__12129479_10 |
rs2045659 |
|
|
|
|
17 |
77766632 |
0.33 |
0.13 |
0.23 |
0.33 |
hCV12129479 |
AAGGCATTAACACTGGAGACGCCCTTGGAGGTCGTCTTCC[T/C]ACTGCCATCCCACCCTCTAGTCCTGCTAGCCCTGTGCTGC |
T |
T |
C___1689380_10 |
rs2045663 |
|
|
|
|
17 |
77773782 |
|
|
0.23 |
0.32 |
hCV1689380 |
TAGAGGCCTGGCCGGGTATGGCCCTAGGCCCCTCCTCCTG[C/T]GGCCTTTACCTCCGGGGGCTGCTGCAGGCTCTGGCTCATT |
T |
T |
C___1689397_10 |
|
|
|
|
|
17 |
77783069 |
0.27 |
0.17 |
0.37 |
0.3 |
hCV1689397 |
GGGAAGTTGTATATTTGCTTGGAGATGATGACTCCAGCTC[A/G]GACTGGGTATCCAGTGAAGTGCCCTTGGATGGTTGGGCCC |
A |
A |
C___7471393_10 |
rs897597 |
|
|
|
|
17 |
77919228 |
0.01 |
0.2 |
0.38 |
0.3 |
hCV7471393 |
CTAGAAGAGTGTCCATTACTATAACTCACTGCCCTCTTCA[C/G]AGATATTCTAATCAGGCATCCTTTCCTACCACCGAAAGGC |
C |
C |
C___7475537_10 |
rs938283 |
|
|
|
|
17 |
78065617 |
0.25 |
0.12 |
0.21 |
0.11 |
hCV7475537 |
TACATTGAAGTCCTAACCCCTAGTACGTTAGATGTGACCG[T/C]ATTTGGAGATAGGACCCTTACCAGGCCATATGGGTGGGCC |
C |
C |
C____772173_10 |
rs296140 |
|
|
|
|
17 |
78081165 |
|
|
0.12 |
0.06 |
hCV772173 |
GACCATCCCGTCGTCAGATGCAAATCAGTGACAACTTCTT[G/T]ATCCCATTTGTTGGTGTTCAGGTCACCCAGGAATTTTTTT |
A |
A |
C__11487976_1_ |
rs3751955 |
|
hypothetical
protein MGC10561 |
MGC10561 |
Intron |
17 |
78454192 |
|
|
0.22 |
0.21 |
hCV11487976 |
GAAAAAAGGGAATGCACCTTTTGCTACCAGAGAACAAACC[G/T]TCCAGATTGACCCTGGCTGGGAAAGACTCCAGCAACCAAT |
A |
A |
C____214127_20 |
|
|
chromobox
homolog 8 (Pc class homolog, Drosophila) |
CBX8 |
|
17 |
78473437 |
0.44 |
0.3 |
0.28 |
0.22 |
hCV214127 |
TGAAACCATCGCCCTCTGCACGCCTAGCGCAAACCCCATG[G/A]TCAGTAAAGGCATCAAGGGCAAGCACAACTCCGGGAAGCG |
C |
C |
C___7965357_10 |
|
|
chromobox
homolog 4 (Pc class homolog, Drosophila) |
CBX4 |
Intron |
17 |
78509942 |
0.46 |
0.39 |
0.24 |
0.36 |
hCV7965357 |
|
#N/A |
#N/A |
C___7964833_10 |
rs920825 |
|
TBC1
domain family, member 16|hypothetical protein FLJ20748 |
TBC1D16|FLJ20748 |
|
17 |
78604979 |
0.06 |
0.24 |
0.07 |
0.02 |
hCV7964833 |
GGGCTGCCCTGAAGGCTCCAGAGGGTGGAGGGGAAGGGCA[C/T]GGTGCTTTTGCTAACACTCTCACGTCCCCTGGGAGCAGGT |
T |
T |
C___7964806_10 |
rs930552 |
|
TBC1
domain family, member 16|hypothetical protein FLJ20748 |
TBC1D16|FLJ20748 |
|
17 |
78607815 |
0.42 |
0.32 |
0.37 |
0.31 |
hCV7964806 |
TACCATAGTCCTCGTGGGATGAATGCATGAATGATGTGGA[A/G]GGAGCCAGAACAGGGCTGCAGACAGGATGCTCTCTCATAG |
A |
A |
C___7964797_10 |
|
|
TBC1
domain family, member 16|hypothetical protein FLJ20748 |
TBC1D16|FLJ20748 |
|
17 |
78608440 |
0.27 |
0.2 |
0.48 |
0.49 |
hCV7964797 |
GTCCACGGTAAGAGCCAGGACGTGGCTTCCAGGCAGGATG[G/A]GGAAGCACCTCCCACTCCCACATGGACAAAGATTTCTTTA |
G |
A |
C__25756018_10 |
|
|
TBC1
domain family, member 16|hypothetical protein FLJ20748 |
TBC1D16|FLJ20748 |
Intron |
17 |
78616392 |
0.14 |
0.04 |
0.5 |
0.45 |
hCV25756018 |
TGTGACATCCAGAGGGGACGATGCTGAGCTCAGCCCCCAC[A/G]GGCTGCTGCTGCTCTCCTGGGTGGTGATGTGGGTGGTCTC |
A |
A |
C___7459706_10 |
rs1696754 |
|
TBC1
domain family, member 16|hypothetical protein FLJ20748 |
TBC1D16|FLJ20748 |
Intron |
17 |
78645656 |
0.2 |
0.32 |
0.14 |
0.06 |
hCV7459706 |
AGGAAGCTGGTGCCCGACCCACCAGGAGACATGGACCTCA[C/T]AGGAGGTGAGCTGAGGATGTGGATAATTTGGACACCACTT |
T |
T |
C____230510_10 |
|
|
TBC1
domain family, member 16|hypothetical protein FLJ20748 |
TBC1D16|FLJ20748 |
Intron |
17 |
78653572 |
0.49 |
0.43 |
0.49 |
0.42 |
hCV230510 |
TTACATTCCTTTCCGGGCTGATGTCCCAGCTGTGTTTGCA[G/A]GAAACAGTGAAGGTCGACGTGTGCCTTTTTATGGCACCGA |
T |
T |
C____380589_10 |
|
|
TBC1
domain family, member 16|hypothetical protein FLJ20748 |
TBC1D16|FLJ20748 |
Intron |
17 |
78663489 |
0.15 |
0.04 |
0.11 |
0.24 |
hCV380589 |
CATGAGCAGTATCTAGAACAATTCCGAACTCCACAAGGCC[A/G]GTTTGCCATGCCAGACTGTTGGGAAGAGGCAACGACAACT |
T |
T |
C___7964143_10 |
rs873436 |
|
hypothetical
protein FLJ20753|TBC1 domain family, member 16|hypothetical protein FLJ20748 |
FLJ20753|TBC1D16|FLJ20748 |
Intron |
17 |
78704935 |
0.13 |
0.01 |
0.18 |
0.32 |
hCV7964143 |
GACACACGCAAACAAGGATCGCGTTGCCCCCGCTGCAGAA[T/C]GTCTGCTGCTGGCATGCCTTGGATGAGGCCCCAGCTTCCT |
T |
T |
C___7964199_10 |
|
|
hypothetical
protein FLJ20753 |
FLJ20753 |
|
17 |
78746329 |
0.3 |
0.05 |
0.38 |
0.26 |
hCV7964199 |
AAGAAGACTCATTAGCATGTCAGCACACTCTCAGGCACAC[A/G]TTTCCCCGAGTGTTAGGAGTTCTGTTGCACAGTTTGTAAC |
A |
A |
C___7964381_10 |
rs715041 |
|
hypothetical
protein FLJ20753 |
FLJ20753 |
|
17 |
78758551 |
0.1 |
0.16 |
0.14 |
0.27 |
hCV7964381 |
AGTGGGAAATCCAGCCTCCTGCACTCGTGACTGTGCGTTT[A/G]GAATATCTCCAGAGGAACATCCCGACCGTCAGGGAACGGT |
A |
A |
C___1161515_10 |
|
|
glucosidase,
alpha; acid (Pompe disease, glycogen storage disease type II)|hypothetical
protein FLJ20753 |
GAA|FLJ20753 |
|
17 |
78769864 |
0.36 |
0.34 |
0.29 |
0.29 |
hCV1161515 |
GGGAGCGGGGTGGGCGCCTCGAGAGCCTGCATCCGCATAC[A/C]CCAGGCCATGTCCACTGGGCCTGCACTGGGAGGGCCCAGC |
C |
C |
C___1161507_10 |
rs1442314 |
|
glucosidase,
alpha; acid (Pompe disease, glycogen storage disease type II)|hypothetical
protein FLJ20753 |
GAA|FLJ20753 |
Intron |
17 |
78777117 |
0.36 |
0.23 |
0.3 |
0.33 |
hCV1161507 |
TCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGT[C/T]GCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGC |
T |
T |
C___1161512_1_ |
rs2229223 |
IMS-JST013892 |
glucosidase,
alpha; acid (Pompe disease, glycogen storage disease type II)|hypothetical
protein FLJ20753 |
GAA|FLJ20753 |
Mis-sense
Mutation |
17 |
78782623 |
0.38 |
0.44 |
0.48 |
0.43 |
hCV1161512 |
CCCCAGCAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCA[A/G]TGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCA |
G |
G |
C___1161511_1_ |
rs2304844 |
|
glucosidase,
alpha; acid (Pompe disease, glycogen storage disease type II) |
GAA |
Intron |
17 |
78784626 |
0.35 |
0.49 |
0.47 |
0.44 |
hCV1161511 |
GCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACT[C/G]CAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCT |
G |
G |
C___7965581_1_ |
rs2241886 |
IMS-JST013890 |
DEAD
(Asp-Glu-Ala-Asp) box polypeptide 48|KIAA0111 gene product |
DDX48|KIAA0111 |
Silent
Mutation |
17 |
78813951 |
0.11 |
0.06 |
0.16 |
0.09 |
hCV7965581 |
GCGAGGACATCAGGAAGCTGGATTACGGACAGCATGTTGT[C/T]GCGGGCACTCCAGGGCGTGTTTTTGGTAAGCACTTTTGTC |
A |
A |
C___7963769_10 |
|
|
caspase
recruitment domain family, member 14 |
CARD14 |
|
17 |
78846135 |
0.36 |
0.18 |
0.12 |
0.25 |
hCV7963769 |
GCACCAACTTAATCACAAGGCCATTGGCCCCAAAGAAAGG[T/C]CTTGTAGGCGACTGTTTAGGGACACCTGTATTTTCCATCT |
T |
T |
C__11488771_10 |
|
|
caspase
recruitment domain family, member 14 |
CARD14 |
|
17 |
78851979 |
0.32 |
0.45 |
0.3 |
0.35 |
hCV11488771 |
CCTCAATCACCTGTTCCAGTGAGAAACAGGACTGAGATCA[C/G]AAGGAATGAGGCAGAGCTGCCCTCGATTGGTTCTCCTCTC |
G |
G |
C___7964595_10 |
|
|
caspase
recruitment domain family, member 14 |
CARD14 |
Intron |
17 |
78853249 |
0.46 |
0.34 |
0.41 |
0.39 |
hCV7964595 |
CCCACAGGAGCGTAAGTCCACTGTGGTTATTCATATCATT[G/A]AATCCAGTGCACAGTTTAAAGGACCATGCATGTATCAAGC |
G |
A |
C__11488763_10 |
|
|
caspase
recruitment domain family, member 14 |
CARD14 |
Intron |
17 |
78854620 |
0.38 |
0.44 |
0.31 |
0.34 |
hCV11488763 |
ACAGTCTTGCTTCTAATGAAAATTACCTTTCATAAAGAAC[T/A]TATAAAGCAGCATTTCCAAAGTGCAGCACCCCTACTGTTA |
T |
T |
C___7964585_10 |
rs3829612 |
|
caspase
recruitment domain family, member 14 |
CARD14 |
Intron |
17 |
78861521 |
0.33 |
0.15 |
0.3 |
0.43 |
hCV7964585 |
TTGCAGGAGCTGGGAACTTGCGAATTGACAATGTGCTAAC[C/T]GGGTGTCGGGAGGGGAGAGTCCAGGTGGAAAGGTCCTTCT |
T |
T |
C___7964577_10 |
|
|
caspase
recruitment domain family, member 14 |
CARD14 |
Intron |
17 |
78864140 |
0.36 |
0.37 |
0.42 |
0.49 |
hCV7964577 |
AGGACAGGGAGGGAAAATTGTTTTTCTGGGACATTAAAAA[C/A]GCAAAACACAACTATGCATGCAACATCCCCTCATTGTTTT |
A |
C |
C___7964277_10 |
|
|
N-sulfoglucosamine
sulfohydrolase (sulfamidase)|caspase recruitment domain family, member 14 |
SGSH|CARD14 |
Mis-sense
Mutation |
17 |
78879012 |
0.49 |
0.15 |
0.37 |
0.41 |
hCV7964277 |
GGCCGAGAGCTGCCTCACCCTGGTGCCCTATACCCTGGTG[C/T]GGCCCCATCGACCCGCCCGGCCCCGGCCTGTGCTCCTCGT |
T |
C |
C__11489337_10 |
|
|
N-sulfoglucosamine
sulfohydrolase (sulfamidase)|caspase recruitment domain family, member 14 |
SGSH|CARD14 |
Intron |
17 |
78892533 |
0.31 |
0.29 |
0.48 |
0.28 |
hCV11489337 |
CACCCCACAGTACCCACAGGTGTGAGCACATGGCAGCCAC[A/G]TAAACCTGGAGGGAGAGCGGGATGGGCTGTGCTCCGTACC |
G |
A |
C____482983_10 |
|
|
solute
carrier family 26, member 11|hypothetical protein MGC46523 |
SLC26A11|MGC46523 |
Intron |
17 |
78915560 |
|
|
0.41 |
0.33 |
hCV482983 |
CTACACACGGCAATAAGTTTTGTAAATCTAAGAATACACA[C/T]CTAAAATATTCACATATATGTGCGTGTAAACATGTGCTTG |
G |
G |
C__12129321_10 |
|
|
solute
carrier family 26, member 11|hypothetical protein MGC46523 |
SLC26A11|MGC46523 |
Intron |
17 |
78915685 |
0.2 |
0.1 |
0.38 |
0.32 |
hCV12129321 |
TCCTGGTTGGCATCGATGCGGTAATTATTCTGAGATGCTA[A/C]AGGGAACCAACGGTAAAGACCTGGTCAGTAATATTCAACA |
G |
G |
C____156243_10 |
|
|
|
|
|
17 |
78954053 |
0.47 |
0.32 |
0.42 |
0.4 |
hCV156243 |
TGTGGGCTGGGGCTTGGCCGTGAGCCCACTCCTGCAGCTC[C/T]TGGGAAATGCAGGCAGCGTCCACACGGGGCTGGACTTAGC |
C |
C |
C____492061_10 |
|
|
|
|
|
17 |
78981889 |
0.3 |
0.31 |
0.23 |
0.26 |
hCV492061 |
CTTTTTTCCTATACATTTTTCCCTTACTTGTAAATAGTCA[T/C]GATACTGCATATGCCTGGTGGGCGTTCTGCATTTTTTTAA |
C |
C |
C____492062_10 |
|
|
|
|
|
17 |
78982001 |
0.35 |
0.36 |
0.25 |
0.26 |
hCV492062 |
TAGCTTTATATAATTATCCAAAATCATTTGCTCCTGCAAA[C/T]TTGTGACCTCTGATACCCTGAGGGGTCAGCAGACAGAATG |
C |
C |
C____492064_10 |
|
|
|
|
|
17 |
78983203 |
0.1 |
0.06 |
0.06 |
0.08 |
hCV492064 |
GGAAACAGACTGATTCCCGGGTGCTGGGATGAGATGGAGC[A/G]GTGGTTTCAGCAGTGGACATTTCTTGTGCACCTGCTTGAT |
A |
A |
C____445837_10 |
|
|
|
|
|
17 |
79001593 |
0.27 |
0.31 |
0.14 |
0.27 |
hCV445837 |
TCCTCAAACACAGGCAATGGCTGGCCAGTGTCTCCAGATG[C/T]GCCAATCATTCCACTCCCTTCTGCTTTCCCCCACGAGGGT |
A |
A |
C____445838_10 |
|
|
|
|
|
17 |
79002276 |
0.28 |
0.18 |
0.14 |
0.29 |
hCV445838 |
TCCTCCCTTCTCCAATCCAGTGCTTCCTCCACAGCACATT[T/G]TTCATCCTGGGGTGAAAGACTTTTTTCCCCTGGAAAATAA |
A |
A |
C__12130128_10 |
|
|
|
|
|
17 |
79037177 |
0.12 |
0.24 |
0.01 |
0.13 |
hCV12130128 |
AGCTCATGGTTCCAACGGGCTTCCATCAGGCTGTGGAGAA[C/G]CTGAGGGTAGATGGTCAGGATTCTGGAAAAGTTCTGCAGA |
C |
C |
C____152603_10 |
|
|
hypothetical
protein FLJ35220 |
FLJ35220 |
Intron |
17 |
79094003 |
0.5 |
0.25 |
0.43 |
0.32 |
hCV152603 |
GGGATGTACGGTACACACGCACACAAAGAGCGCATGTGCG[C/T]GAGAGAGAATATTCCAGAGCAGCAACAGCTGAACCTAAGT |
A |
A |
C____432074_10 |
|
|
raptor |
raptor |
|
17 |
79219288 |
0.16 |
0.06 |
0.28 |
0.33 |
hCV432074 |
CCTCTGGAAACGTACAGCCTCAGGAGCAGCCAGTGGCTTG[A/G]GACCTGGGGTGGTGTGTGTCTGCGGAGCTTCTTGGGCTGC |
A |
A |
C____106441_10 |
|
|
raptor |
raptor |
|
17 |
79229313 |
0.32 |
0.47 |
0.44 |
0.4 |
hCV106441 |
GCCCTCCATCAGGTCCTTCTATTGCTCCAGATTTCTAGTG[T/C]GTGTCCGGAGGGAGATGCACCACCGCCCACCCAGTAGCTC |
T |
T |
C____316279_10 |
|
|
raptor |
raptor |
|
17 |
79258405 |
0.2 |
0.11 |
0.3 |
0.34 |
hCV316279 |
GTGGAAATTCTCCTGACCACCGAGAACAAAGAGGACCACT[A/G]CTATAAAAACCTCCAGAATCATCATCTGCGGATGGAGGGA |
A |
A |
C___1971430_10 |
|
|
raptor |
raptor |
|
17 |
79271092 |
0.2 |
0.08 |
0.29 |
0.34 |
hCV1971430 |
TGATTAAACCTTGAAGCTCGTAGTACCAAGCTCAAGCCTC[A/G]GCATTTGGCAGTAGGAGAGGTGCAGAATGGTTGGGAGAGC |
A |
A |
C___1971349_10 |
|
|
raptor |
raptor |
|
17 |
79311843 |
0.44 |
0.49 |
0.3 |
0.37 |
hCV1971349 |
GCGGCTCGTGGGTTTACAGAGCACTTGCACAGACTTCGTC[A/G]TTGATTCTTGCAACCATTTGGGATTCATAGACCAGTCAAG |
G |
G |
C___1971316_10 |
|
|
raptor |
raptor |
|
17 |
79337774 |
0.19 |
0.07 |
0.22 |
0.33 |
hCV1971316 |
CTGGTTCTGTGCGTGTGCGTGTGTGCAAGCAGGTGTGTGC[A/G]CAAGATGGGCTGGCCTGCCCTGCTTTGGCACGGAAGCATC |
G |
G |
C___1971308_10 |
rs1485330 |
|
raptor |
raptor |
|
17 |
79340941 |
0.19 |
0.07 |
0.22 |
0.31 |
hCV1971308 |
GGAATGCAGTAGGTGGCACTTGTTGAGTGCATTCTGTGTG[G/A]TTAGGACACTGATTCATCAGGGCCTGGATTTTCCCAATAA |
A |
A |
C___1971303_10 |
rs1564864 |
|
raptor |
raptor |
|
17 |
79342164 |
0.19 |
0.07 |
0.22 |
0.35 |
hCV1971303 |
AGTTCTTTTGGGTTCAACTTGTCAAGGAGGGTGGCTACTG[G/A]GAGGTTGCCTGATAATCTCCAAGTTTCTTCCATCTCCATC |
G |
G |
C__12127958_10 |
rs4255830 |
|
raptor |
raptor |
|
17 |
79349349 |
0.48 |
0.43 |
0.44 |
0.39 |
hCV12127958 |
TCTATCACACCCGGGTCAAGGCCAGCCATCCCTCCTCTCT[A/G]TTTATTACTAGGCTGAGGGGCAGAAACTTTTCCTTGCAGT |
G |
G |
C___7471932_1_ |
rs869190 |
IMS-JST027050 |
raptor |
raptor |
|
17 |
79368712 |
0.17 |
0.05 |
0.22 |
0.32 |
hCV7471932 |
GTTGTCGTGAGCTCCTGCCTCCATCCACCCCATTCTGGCG[G/T]TTCCTGGCTTCACTGCCTCTTGAAGACAGCCTCTCTGGCA |
T |
T |
C___1971279_10 |
|
|
raptor |
raptor |
|
17 |
79373199 |
0.37 |
0.14 |
0.41 |
0.33 |
hCV1971279 |
AATATTTATTTAATGTCAACTGTGAAGGCTGATGAGTAAA[T/C]CAGCAGGTAGAGTCCAGTACCCTGGTGCAGTGATGGGGAG |
T |
T |
C___1971468_10 |
|
|
raptor |
raptor |
|
17 |
79379098 |
0.21 |
0.29 |
0.34 |
0.28 |
hCV1971468 |
CCAACTGATAACGCGGGATCTTCAAGTCCATTTTCATCTA[C/T]GAAGGATGTGCGTTGACACGCACAGGGGGCTCTGCCAGGA |
G |
G |
C___1971458_10 |
|
|
raptor |
raptor |
|
17 |
79392098 |
|
|
0.22 |
0.32 |
hCV1971458 |
AAAACTCCAACTTTACGTTCAGTAAATTAAGGAAAGGCAG[A/G]TAACCTGGAGCAAAGCTCATCCTACCTAGAGAGGGCACCA |
T |
T |
C___1971267_10 |
|
|
raptor |
raptor |
|
17 |
79416969 |
0.46 |
0.49 |
0.48 |
0.5 |
hCV1971267 |
CAGTGCGCAAAGACAATCTAATAAGGCTGGATCCAGACAC[G/A]TGTACTCACTCCACCTTCTAAAACAAACACCAATTAGAAA |
T |
C |
C___3152486_10 |
|
|
raptor |
raptor |
|
17 |
79425810 |
0.48 |
0.34 |
0.45 |
0.5 |
hCV3152486 |
GCCCATCTAGGCTGGGGATGTGGAACAACAAGGTACAGAA[C/T]GAGGCTTCAGACTGAGAGCGCCACCTGCTAATGCGGGGTC |
G |
A |
C___1164937_10 |
|
|
raptor |
raptor |
|
17 |
79439459 |
0.29 |
0.36 |
0.24 |
0.19 |
hCV1164937 |
TGAACTTCCTCATCCTGAAAGCAGCACTAACGCCAGTCCA[C/A]ACCTTACAGGCGTGTGGTGTTAGATGAGTGCATTAGTGGA |
G |
G |
C__12128390_10 |
|
|
raptor |
raptor |
|
17 |
79447841 |
0.18 |
0.09 |
0.22 |
0.3 |
hCV12128390 |
TTCAGCACCATAGCCCCCAGGGCAGGCCGCATAGCCCTGC[G/A]TGTCCACCGGGAGCTGTCTGGAGGGAATCAGAAGCGGTCG |
T |
T |
C___7987285_10 |
|
|
raptor |
raptor |
|
17 |
79457745 |
|
|
0.22 |
0.35 |
hCV7987285 |
TAGCTTGCTTCTGTAGCACGGAGGGCCACTATGAAATAGC[A/G]AACTCTTGCACTTAATTTGTATCTTGTCCTGCTTACCGGC |
G |
G |
C___1706130_10 |
|
|
raptor |
raptor |
|
17 |
79479277 |
0.12 |
0.01 |
0.06 |
0.03 |
hCV1706130 |
GAAGCTCCCTGATGAGATGCAGCGTGCAGGTGAGAGTGGC[A/G]TCTGGAGACAGCCTGGAGGCGGCCAGTGCCTCCGGAGGGA |
A |
A |
C___1706139_10 |
rs1567961 |
|
raptor |
raptor |
|
17 |
79491801 |
0.36 |
0.38 |
0.08 |
0.03 |
hCV1706139 |
ATTTCGGAGCTGGCCTGGCACTCTACAGTGGTTGCACAAA[T/C]GGGGTGTGGATGCTGAAGTTCTGCCAGAGTCTAGCAGGGC |
C |
C |
C__15906823_10 |
rs2589143 |
|
raptor |
raptor |
|
17 |
79510806 |
0.24 |
0.2 |
0.43 |
0.44 |
hCV15906823 |
CTGGCCTGGAGGTGTGAGGTCCAATTCAGACTGCCGGCTG[G/T]TCCTACAGTAGAATTGGGGTGTGGAGCTCTGGGGAGAGGT |
T |
T |
C___1706171_1_ |
rs3751945 |
|
raptor |
raptor |
|
17 |
79520448 |
0.34 |
0.22 |
0.42 |
0.44 |
hCV1706171 |
CCGAGCAGCTGACCGCATTCCAGGTGTGGCTCACCATGGG[C/T]GTGGAGAACCGAAACCCACCCGAACAGCTGCCCATCGTCC |
T |
T |
C___1706183_10 |
|
|
raptor |
raptor |
|
17 |
79529603 |
0.23 |
0.4 |
0.17 |
0.16 |
hCV1706183 |
ACCCCCAGCCGTGAGACCCAGGGCGAGTGTGTCCACCGTG[G/T]TGGTGTCCTGTCACTCCTGAGGCCCTCAAGGAGCCCACTC |
G |
G |
C___1706188_10 |
rs2063785 |
|
raptor |
raptor |
|
17 |
79536965 |
|
|
0.13 |
0.11 |
hCV1706188 |
CCTCATTTCCCAAGCACCTTTGGGGCACACCGTGTGTCCC[A/G]TTGTGCCAGAAGCTCTGAGGGATTCATGGGGAGGCCTTAA |
G |
G |
C___1164914_1_ |
rs2016817 |
IMS-JST041469 |
raptor |
raptor |
|
17 |
79559123 |
0.17 |
0.1 |
0.42 |
0.39 |
hCV1164914 |
GCCCGGCAGCAGCAGGGCACCCAGGCTGGACCCCGTGACA[T/C]CTGGGGCCAAGCCCGCATGGCCCTGACCACAGCAGGGAGC |
T |
T |
C__11488448_10 |
rs2063789 |
|
raptor |
raptor |
|
17 |
79563479 |
0.43 |
0.28 |
0.46 |
0.49 |
hCV11488448 |
GCCCTCAGGGGGAAGGGGTCACATGACAACACCAGCCAAG[A/C]TCATCTTGCAAAAGCTGAGAGAGAGGGGAGCTCCCACACC |
A |
A |
C___1165370_1_ |
rs2289764 |
IMS-JST041472 |
raptor |
raptor |
|
17 |
79565665 |
0.29 |
0.35 |
0.31 |
0.22 |
hCV1165370 |
CTCCCTCTCGGCAGGAGCTGGTGGTGGCTCTGAGTCATCT[T/C]GTGGTTCAGTATGAAAGCAATTTCTGCACCGTGGCCCTGC |
C |
C |
C___1165371_1_ |
rs2289765 |
IMS-JST041473 |
raptor |
raptor |
|
17 |
79565749 |
0.13 |
0.29 |
0.31 |
0.22 |
hCV1165371 |
TCATAGAAGAGGAAAAGAACTACGCCTTGCCTTCTCCAGC[A/G]ACCACAGGTATGGCGTCTTCTCCTGTGAACCCGCAGAGCA |
G |
G |
C___1165372_1_ |
rs2289766 |
IMS-JST041474 |
raptor |
raptor |
|
17 |
79565943 |
0.23 |
0.29 |
0.3 |
0.25 |
hCV1165372 |
TTAGGCACCTGCCAGATTTAAAAGGGCAGGAAAGAGGGCC[G/A]CACTGACCCTCTTACATTTTTCCTTTCTTTTTACCCTTTT |
G |
G |
C___1706250_10 |
rs868432 |
|
raptor |
raptor |
Intron |
17 |
79577854 |
|
|
0.48 |
0.49 |
hCV1706250 |
CTTCACAACCCAGAAACTGGAGTTACTCTTGTCAGAAGAC[G/A]GTGGTGAGAAAATGAACAACAGTTTTCCAATGCTACAGGA |
G |
A |
C___1706262_10 |
rs1012117 |
|
raptor |
raptor |
Intron |
17 |
79587721 |
0.33 |
0.29 |
0.47 |
0.49 |
hCV1706262 |
GTTTTTTTAAGGAAAATTTCAGACTATGTAGAAGTAGAAA[G/A]AAGAGACTGATGCCCCTCAGGAGCCTGCCTGTGGCCCCAG |
A |
A |
C___1706299_10 |
|
|
raptor |
raptor |
Intron |
17 |
79604799 |
0.47 |
0.3 |
0.27 |
0.26 |
hCV1706299 |
GCAGGGACCGTGCAGTGCCATTCTGCTCACCTTTCTCCAC[A/G]CTTGGCTGTAGTGCCAGCGCCTGTCTGGTAAATTACTGCT |
G |
G |
C___1706340_10 |
rs1468035 |
|
raptor |
raptor |
Intron |
17 |
79624072 |
0.34 |
0.28 |
0.49 |
0.38 |
hCV1706340 |
GCAGGAGTTAGGAGGCTCCCGGGGTCAGGCTTCTGGGTCT[A/G]GATTTCCAGAGGCCCCTCTGCAGCACCAGGCATTCGCCTC |
A |
A |
C___1706353_10 |
|
|
raptor |
raptor |
Intron |
17 |
79635190 |
0.31 |
0.24 |
0.41 |
0.38 |
hCV1706353 |
GGCTCTGACCCTGCGTGAGCACTAGCCCCTCGTGGGGAGC[G/A]GACGGGCGAGGGCCTGCGGACCCGCTGGCACAGGCAGACC |
A |
G |
C___7471914_1_ |
|
|
raptor |
raptor |
UTR
3 |
17 |
79639976 |
0.48 |
0.17 |
0.48 |
0.42 |
hCV7471914 |
ATCCAGTCCTTCAACTCAATTCTTACCCAACACGCGTTTC[C/T]GTTTGTTTTGAGACAAAATCACCACCTGTCAAAAGGCAGG |
C |
T |
C____216379_10 |
|
|
BAI1-associated
protein 2 |
BAIAP2 |
|
17 |
79721177 |
0.18 |
0.23 |
0.31 |
0.47 |
hCV216379 |
CGGGCTGGCTGTGTGGTCAGCAGGGTTGAAGCCAGGACTC[T/G]GGGCTCCACCAAGAGCTGACAGGCTGGCCCCTGCCTTCCT |
T |
T |
C____213917_10 |
|
|
BAI1-associated
protein 2 |
BAIAP2 |
Intron |
17 |
79760299 |
0.22 |
0.27 |
0.08 |
0.2 |
hCV213917 |
CAAAACCAAGGCCCATGAACCCAACGCAGCGCGGACCACT[A/G]GCAGCAAAACCGAGGCCCATGAGCCCAACGCAACGGGGTC |
T |
T |
C____179850_10 |
|
|
BAI1-associated
protein 2 |
BAIAP2 |
Intron |
17 |
79779412 |
0.32 |
0.06 |
0.14 |
0.27 |
hCV179850 |
GACGGGCTCTCCAGTTTGGAGTTCTAGAAGTCACCTATGG[C/A]GTCAGATGGGCCACACCTCCTCAGTTTACTGAATGCTGTT |
C |
C |
C____209341_10 |
|
|
BAI1-associated
protein 2 |
BAIAP2 |
Intron |
17 |
79789929 |
0.14 |
0.03 |
0.12 |
0.22 |
hCV209341 |
GTCTGGCCTGGACTGGATCCCAGCTGTTCTAGGCAGGGCC[G/A]GGCAGAGTGGGGCGCAGGCCCCTGAAGGGCGAGACCCAGT |
A |
A |
C____399266_10 |
|
|
|
|
|
17 |
79802449 |
|
|
0.06 |
0.14 |
hCV399266 |
CGATTTCCTTCAGGTACAGGAGGCTGTGCCGGCCCACGTC[T/C]GTGGACTTGAGGAGCTGCACTGTAACCAAGCAGGGGGTTC |
C |
C |
C___1530704_10 |
rs883884 |
|
|
|
|
17 |
79858159 |
0.46 |
0.38 |
0.3 |
0.27 |
hCV1530704 |
TCCTTCCTCATCTTGGTGTCTGGAGGGCTCTCCCCTCACA[C/T]AGGGTGACTCTAGGGGCCTCAGGCACTCTGACTCCCACTT |
C |
C |
C___1530690_20 |
rs2279913 |
IMS-JST027848 |
|
|
|
17 |
79868387 |
0.48 |
0.4 |
0.2 |
0.13 |
hCV1530690 |
GCCCTGCACATCACCCAAGGGTCCGAGGCCCCTTCAGACC[A/C]CAACACCCACCAGCCTCCTGCCCCATCCGCCTGCCTGCCC |
C |
C |
C___1530761_10 |
rs969413 |
|
hypothetical
protein FLJ31528 |
FLJ31528 |
|
17 |
79895933 |
|
|
0.48 |
0.27 |
hCV1530761 |
AGGAGGGTGTTAAGTTTCTTCCGCACAGCCGGAAGTGCAT[A/T]ACTGAGGACTGGGACCTGGTCAGTGGCAGGGTCAGCCTCT |
T |
T |
C___1530775_10 |
|
|
hypothetical
protein FLJ31528 |
FLJ31528 |
Intron |
17 |
79906908 |
0.49 |
0.41 |
0.26 |
0.18 |
hCV1530775 |
GGCACCACTGCCTGCGGCTGGGACCCAGCCCCCAGCCCAG[T/C]TGTGCCCTGCTGCCGGGCCCTGGGCGGTGTGTAGCTGCTC |
A |
A |
C__11259059_10 |
|
|
hypothetical
protein FLJ31528|hypothetical protein MGC15523 |
FLJ31528|MGC15523 |
|
17 |
79922953 |
0.33 |
0.48 |
0.23 |
0.17 |
hCV11259059 |
ACCAGCACATGGGATCTCGTCCTTGTACCATTGACATTCC[A/G]TGGTTGAGCCCCGCAGCACCCAGGGCGAGCACGTGGCCCA |
C |
C |
C___1530809_10 |
|
|
hypothetical
protein MGC15523 |
MGC15523 |
Intron |
17 |
79935907 |
0.44 |
0.15 |
0.4 |
0.34 |
hCV1530809 |
CCCGAATGTTCTCCTCCATTTGTAGATGCCCCTTCAGCCA[C/T]GTTACATCTTCCTTGCAGTGAAGGGAAGAGTCCCAGGGCA |
C |
C |
C___1530812_10 |
|
|
hypothetical
protein MGC15523 |
MGC15523 |
Intron |
17 |
79938019 |
0.34 |
0.3 |
0.24 |
0.19 |
hCV1530812 |
TGCCACTGGAGTGTGGGAATCCAACCACGGGACGTGTGAC[A/G]TAGACAAGGGAACGGTCAGTAGTTCCCTCGGAATCCCGAA |
G |
G |
C___1530821_1_ |
rs2271090 |
IMS-JST065861 |
hypothetical
protein MGC15523 |
MGC15523 |
Intron |
17 |
79946724 |
0.37 |
0.27 |
0.22 |
0.16 |
hCV1530821 |
GTGAGCCTGACCAGCACAATCAGATCTGGCTGAGCAACTT[A/G]AACGGGAACCTGCAGCATGCCAGGAAGGCACGAGGGCTTC |
G |
G |
C__12043152_1_ |
rs3088001 |
IMS-JST065859 |
hypothetical
protein FLJ38792|hypothetical protein FLJ39421|hypothetical protein MGC15523 |
FLJ38792|FLJ39421|MGC15523 |
Mis-sense
Mutation |
17 |
79978929 |
0.14 |
0.16 |
0.07 |
0.02 |
hCV12043152 |
CCTTCCGCCCTTCGAGTCCATCTCCCTCCCTGGCCTCCAC[A/G]GTAGGTCCAGGTGAGCAGGGTCCCCTGTGGCCCCCACAGT |
A |
A |
C___3100523_10 |
|
|
hypothetical
protein FLJ38792|hypothetical protein FLJ38792 |
FLJ38792|FLJ38792 |
|
17 |
80006135 |
0.24 |
0.43 |
0.3 |
0.07 |
hCV3100523 |
TCATGTGTTCCATGATCCTGTCCACACGAAGGTCATGCAG[T/C]CTTGGGGGGCACTGGAGCGGCAGGTGTGGTTTTGGGGACC |
T |
T |
C___8752444_1_ |
rs1017800 |
IMS-JST026758 |
|
|
|
17 |
80023200 |
0.18 |
0.4 |
0.27 |
0.09 |
hCV8752444 |
AGGGAGGAGAGCCCACCCACCACCTAGAGACCACAGCAAG[A/C]AGACGGATGTAAAATTCTGCTACGGGGGAGTGAAAAACCA |
T |
T |
C___3100479_10 |
|
|
|
|
|
17 |
80056137 |
0.36 |
0.45 |
0.18 |
0.18 |
hCV3100479 |
GCTCCTGGGGCCACCTCTTCTCCACACGGCGGCAGCAGGT[G/C]TAGTTCGGGCCTAACAGCCCAGCCATCCCTGAGAGCCAGC |
G |
G |
C___1879905_10 |
rs1478608 |
|
hypothetical
protein FLJ23058 |
FLJ23058 |
|
17 |
80116775 |
0.33 |
0.28 |
0.08 |
0.1 |
hCV1879905 |
AGTGACCCCAGGAGACCTGGGGCCTTCAGTGGAAGGGGCC[T/C]GCAGATGTGCCTCCCCGGCTGCTGATGGCAGCAGCTGCTC |
C |
C |
C___1879891_1_ |
|
|
hypothetical
protein FLJ23058 |
FLJ23058 |
|
17 |
80129971 |
0.16 |
0.04 |
0.26 |
0.34 |
hCV1879891 |
TCGTGCGGGGCGAGGAGACCCTGCGTGTCGGGGACTGTGC[T/C]GTCTTCCTGTCAGCTGGGCGGCCCAACCTCCCCTACATCG |
T |
T |
C___1524069_10 |
|
|
fascin
homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) |
FSCN2 |
|
17 |
80194970 |
0.13 |
0.04 |
0.12 |
0.17 |
hCV1524069 |
AGGGCTGCACGGCCACTGTGTTCCACCCTCCAGCGTGGGT[A/G]GCAGTCCAGTGCGTCATTCTGGGGCCTGAGCAGTGTGGCC |
G |
G |
C__12004792_10 |
rs12675 |
|
fascin
homolog 2, actin-bundling protein, retinal (Strongylocentrotus
purpuratus)|hypothetical protein FLJ22175 |
FSCN2|FLJ22175 |
UTR
3 |
17 |
80203271 |
0.1 |
0.21 |
0.04 |
0.2 |
hCV12004792 |
GCACGAGACCACGGGCACTTGCAGGAGCTCCCTGCATGCT[A/G]TTTTGTGCTTTGGTCTCAGGGAGCACCCTCCTACCTCGGG |
A |
A |
C_____77717_10 |
|
|
hypothetical
protein FLJ20657|hypothetical protein FLJ22175 |
NPL4|FLJ22175 |
|
17 |
80219709 |
0.13 |
0.13 |
0.33 |
0.34 |
hCV77717 |
GGGATCCCACTTCCCCAGCCGATCCCTCCCAACCTTGGCT[C/T]CTCGATAAGTTTCTTAAAGTGCTAACATCTGGGGGAGGAG |
A |
A |
C____454429_10 |
|
|
hypothetical
protein FLJ20657 |
NPL4 |
Intron |
17 |
80270680 |
0.42 |
0.3 |
0.26 |
0.16 |
hCV454429 |
GTGCAGATTGATTGTAGTGAAAGAGACTTGGTCAGCCTTT[C/G]TCAGTCTAGGTCAAGGAACACAGTCTCTAGTGGGGGCGTG |
C |
C |
C__11259409_10 |
|
|
hypothetical
protein FLJ20657 |
NPL4 |
Intron |
17 |
80275196 |
0.43 |
0.27 |
0.24 |
0.34 |
hCV11259409 |
ACGCACAATCTGAAGGAGAGGTATGCTGGTTTACGAGGGC[A/G]CCGGCGGCCGTCCCTCCGGGGCTCAGTCAGACCCCTTTCT |
G |
G |
C____216053_10 |
|
|
hypothetical
protein FLJ20657 |
NPL4 |
Intron |
17 |
80275841 |
0.43 |
0.29 |
0.26 |
0.17 |
hCV216053 |
AAGTGAAATGCTTGCTGCAGGGATGGAGAGCGCACACTAG[C/T]GTGGCAGGTCAAAATCATCCAACCGCTATGAAATGAGAGA |
T |
T |
C___1838440_10 |
|
|
oculospanin|phosphodiesterase
6G, cGMP-specific, rod, gamma |
OCSP|PDE6G |
Intron |
17 |
80314763 |
0.29 |
0.46 |
0.24 |
0.13 |
hCV1838440 |
CCTTCCTAGGAGATGAGGTGTTTGGCTGGGAGCCCAGTGG[C/G]CAGAGACCCGCCTCCTCCCCAACCTCCCAGGGCTTGGCGC |
G |
G |
C__11259352_10 |
|
|
|
|
|
17 |
80335978 |
0.45 |
0.45 |
0.38 |
0.38 |
hCV11259352 |
TCCGTCACACACTGAGCCAGCCTCATCAGCTGTCTCGGTA[T/G]TTGGTGTTCAGGGACAGGGATCCAGCCCTTCCTAAGGTCC |
C |
C |
C_____65983_10 |
|
|
hepatocyte
growth factor-regulated tyrosine kinase substrate |
HGS |
Intron |
17 |
80352056 |
0.06 |
0.1 |
0.26 |
0.23 |
hCV65983 |
CTGACTGCACAGCCCAACCCGGCCCCCAGGAGTCCTGCCA[T/C]TCTGAAACAGGCTGTCTGCTGCCTTTTCACCTGTGTGTTG |
A |
A |
C_____65980_10 |
|
|
hepatocyte
growth factor-regulated tyrosine kinase substrate |
HGS |
Intron |
17 |
80354178 |
0.07 |
0.1 |
0.26 |
0.21 |
hCV65980 |
CGCCAGCCACCGTTTTGGGGAAAATAAGGTAAGTTAAAAG[C/T]AAGGGCAAGGAAAAAATACACATCAATTCTGCTGATAAAA |
G |
G |
C____137977_10 |
|
|
hepatocyte
growth factor-regulated tyrosine kinase substrate|mitochondrial ribosomal
protein L12 |
HGS|MRPL12 |
Intron |
17 |
80358410 |
0.06 |
0.13 |
0.26 |
0.23 |
hCV137977 |
TCATCTGATGGTTCTAGGCTGCTCTGGAATATTCAGGTCC[G/A]TGTTAGGTCCACAGAGAGTGGCCCGAGCTCTGGACCACAG |
C |
C |
C___7478517_10 |
|
|
hepatocyte
growth factor-regulated tyrosine kinase substrate|mitochondrial ribosomal
protein L12|solute carrier family 25 (mitochondrial carrier; dicarboxylate
transporter), member 10 |
HGS|MRPL12|SLC25A10 |
|
17 |
80366315 |
|
|
0.26 |
0.23 |
hCV7478517 |
CGGCTGCCGGGCATTCGAGCCGGAAATGACGCTCTAGCCG[T/C]ACCTCGCGCTAGCCTCGTCTCACCCTGAGATTACCCACAA |
G |
G |
C__11259331_10 |
|
|
hepatocyte
growth factor-regulated tyrosine kinase substrate|mitochondrial ribosomal
protein L12|solute carrier family 25 (mitochondrial carrier; dicarboxylate
transporter), member 10 |
HGS|MRPL12|SLC25A10 |
|
17 |
80372095 |
0.27 |
0.36 |
0.26 |
0.22 |
hCV11259331 |
GGGGACTCACAAGGATCCCTGATGGATTCTCAAACGGATC[G/A]TAAGTTATGTCGGTAGGCCCAAGGGGGTGGTTGGGGCAGA |
C |
C |
C__15885275_10 |
rs2277706 |
|
procollagen-proline,
2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide
(protein disulfide isomerase; thyroid hormone binding protein p55) |
P4HB |
UTR
3 |
17 |
80480484 |
0 |
0.12 |
0.16 |
0.15 |
hCV15885275 |
TACATCATGGTTTCAGGAAACAAGCCCCACCAGGGTGGGC[T/G]GCCTGGAGATGGATCCCTTTCCAAAAACCGAAAAGCAGAA |
#N/A |
#N/A |
C___7515843_1_ |
rs1799919 |
IMS-JST017206 |
procollagen-proline,
2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide
(protein disulfide isomerase; thyroid hormone binding protein p55) |
P4HB |
Silent
Mutation |
17 |
80481914 |
0.14 |
0.35 |
0.26 |
0.31 |
hCV7515843 |
ATTTCTTAAAACCATCCAGCGTGCGTTCCCCGTTGTAATC[G/A]ATGACCTGTGGAAGACAGGGATGAGTGCAGGGGCTGGTCC |
G |
G |
C____328339_10 |
|
|
Rho
GDP dissociation inhibitor (GDI) alpha|procollagen-proline, 2-oxoglutarate
4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide
isomerase; thyroid hormone binding protein p55) |
ARHGDIA|P4HB |
|
17 |
80507105 |
0.14 |
0.23 |
0.1 |
0.16 |
hCV328339 |
CTCCTCTGGCCGTGGTAGTCACATGTAAACGTGTGTGGTC[G/T]GCTCAGCGTCATCTTTCAAACAGGATGCCCCTGGAGCTCG |
T |
T |
C__11773632_10 |
|
|
hypothetical
protein LOC147111 |
LOC147111 |
Intron |
17 |
80590917 |
0.47 |
0.36 |
0.2 |
0.34 |
hCV11773632 |
GGTTGGGGAGCATGTGGACTTTTGAAGTTGATGTCATGGA[C/T]GCAAGCTGCCCGGAGCAGGGACACTGACCTCCGGATGATG |
T |
T |
C____110957_10 |
|
|
alveolar
soft part sarcoma chromosome region, candidate 1|hypothetical protein
LOC147111 |
ASPSCR1|LOC147111 |
|
17 |
80604368 |
0.48 |
0.36 |
0.2 |
0.28 |
hCV110957 |
TCCCTACGGCTTCACCCGGCTGGTGCCAACATGCAGCCTA[C/T]TGGGCTAACCATGGAGTGGCAGGGCCACCAGGGAAAGGCC |
T |
T |
C__11773561_10 |
|
|
alveolar
soft part sarcoma chromosome region, candidate 1 |
ASPSCR1 |
|
17 |
80613007 |
0.38 |
0.06 |
0.39 |
0.44 |
hCV11773561 |
CAGTCTAAGGAAAATAGGAACAGACTCTTCAAAAACGCCA[A/C]TAAAGAATTAAAACCCACCAGGTGATGTGTGGCTCAGTAA |
C |
A |
C____350662_10 |
|
|
G
protein pathway suppressor 1|dicarbonyl/L-xylulose reductase |
GPS1|DCXR |
|
17 |
80682863 |
0.2 |
0.48 |
0.08 |
0.08 |
hCV350662 |
TCTCTGGACGTGTTGGAGCTGGTGGTTTCCTGTGTTGTTC[G/A]AAACTCCTAGGGCTGAAGGGAGGTGTCCACTGAGTGTGGA |
C |
C |
C____350666_10 |
|
|
G
protein pathway suppressor 1|dicarbonyl/L-xylulose reductase |
GPS1|DCXR |
|
17 |
80683845 |
0.3 |
0.43 |
0.13 |
0.2 |
hCV350666 |
AGACCCACCGCGGACGCAGGGGACGCAGGGGACGTCTACA[G/A]TTCTGCAGCAATTTTCAAGAATTCGCTTTTCTTTCGTTTC |
T |
T |
C____372277_10 |
|
|
fatty
acid synthase |
FASN |
|
17 |
80713709 |
0.27 |
0.33 |
0.01 |
0.12 |
hCV372277 |
TAACAAAGATACGTGGTTTCTCTTAGGTCTCCCTGAAGCT[C/T]ATTTGCAACTTGGATGCACCTCAGGCCCATCAGAGCGCCT |
T |
T |
C__16170970_10 |
|
|
fatty
acid synthase |
FASN |
Silent
Mutation |
17 |
80729996 |
0.48 |
0.44 |
0.1 |
0.11 |
hCV16170970 |
GCCTCAAGAACTGCACGGAGGTGTTGGGCTTCAGCAGGAC[A/G]TTGATGCCCCCCACGATGGCGGCAGGGCACTGCCCGCTGT |
G |
G |
C____227527_10 |
|
|
hypothetical
protein FLJ23754 |
FLJ23754 |
Intron |
17 |
80757049 |
0.48 |
0.5 |
0.1 |
0.09 |
hCV227527 |
TTCTAGAAACGGAGAGGAAGTTTCCTCCTCTTTTTTAAAC[A/G]TGTTCCATGCATTGTGGGTAACAGAGTATGCACACTACAC |
T |
T |
C____438941_10 |
|
|
hypothetical
protein FLJ23754 |
FLJ23754 |
Intron |
17 |
80772246 |
0.48 |
0.5 |
0.1 |
0.09 |
hCV438941 |
TCCCGAGATGGGCCCTCAAGTAAAGCATCAGTTTCTTCTA[C/G]GCAATAAAAGAACCCAAAGATGACACTTGGAAATGAACGT |
C |
C |
C_____87781_10 |
|
|
hypothetical
protein LOC284001 |
LOC284001 |
Intron |
17 |
80808298 |
0.48 |
0.48 |
0.1 |
0.09 |
hCV87781 |
GCTGGGCTGGATGACGCCGCCCCAACGTCTGCAGTAGCCT[C/T]GAGCTGTATATTTGCTATGAGCGGACTTTTGCAGGGGTCA |
T |
T |
C___9265424_10 |
|
|
hypothetical
protein LOC284001 |
LOC284001 |
Intron |
17 |
80823147 |
0.27 |
0.08 |
0.41 |
0.5 |
hCV9265424 |
CCTGCGGCCCCTCTCACCCCGTATACCGACCACAGAGGTC[A/G]CCCCGCACACCGACCGCAGAGGCTTTAGGTGCCTCCCATG |
A |
A |
C____380342_10 |
|
|
hypothetical
protein LOC284001 |
LOC284001 |
Intron |
17 |
80832834 |
0.48 |
0.44 |
0.1 |
0.08 |
hCV380342 |
CCTGCCAACTACAACCAGCCTCAAATCGCCACTGTCCCCA[A/G]ATGCTGCCAAGAGCCCCCCACCTGCTGGGCAGGACCACCC |
G |
G |
C__11600372_10 |
|
|
hypothetical
protein LOC284001 |
LOC284001 |
Intron |
17 |
80838073 |
|
|
0.01 |
0.09 |
hCV11600372 |
TTAACTCAACAAACACATGTTCAGAGGCCACGAGGCACTC[A/G]GCCACTCAGACAGACCAGCTCCCGTGGCCTGGAATCAGCA |
A |
A |
C__11600340_10 |
|
|
secreted
and transmembrane 1 |
SECTM1 |
Intron |
17 |
80968097 |
0.43 |
0.1 |
0.36 |
0.47 |
hCV11600340 |
TGTCAGCGACTTTGGGTTGCTGTGGGAATTTGCTCCGTTT[A/G]TCAGAAGAAAACGCACCCTGGCAACACAGGCCCCTCTCAG |
A |
A |
C____315670_10 |
|
|
secreted
and transmembrane 1 |
SECTM1 |
|
17 |
80972922 |
0.32 |
0.35 |
0.2 |
0.27 |
hCV315670 |
ATTTCAGTTATGATTTTCTGTTTAACTCTCCAAATTATTC[G/A]GCAGCATATTCTTAAAATCCCCAAGGTCCTGGAGCATTTG |
A |
A |
C__11258675_10 |
|
|
G
protein-coupled receptor 14 |
GPR14 |
|
17 |
81003200 |
0.27 |
0.3 |
0.23 |
0.28 |
hCV11258675 |
GCCCCAGTGTCTGCGGCAGGATGGGCCTCTGGTCTCTAAG[T/C]ACCTGAGAGGTGGAGTGGGTTCTGAACAAAGCATCCTCTT |
T |
T |
C_____81135_10 |
|
|
hypothetical
protein FLJ22222|hypothetical protein FLJ23825 |
FLJ22222|FLJ23825 |
Intron |
17 |
81046166 |
0.24 |
0.37 |
0.11 |
0.07 |
hCV81135 |
TCGTTGCTAGAATTGTCTATAATGTATAATCTAGGCAAAC[A/G]TCAATCAGCAAAATTAATGCAACATTAGTGGGTCCTGCGT |
G |
G |
C____288220_10 |
|
|
hypothetical
protein FLJ22222|hypothetical protein FLJ23825 |
FLJ22222|FLJ23825 |
UTR
5 |
17 |
81056503 |
0.24 |
0.3 |
0.22 |
0.26 |
hCV288220 |
CATAGGAGTTCACAGGAAATATTGAAATGTCAGGTTCCAC[G/T]CCATTTCAGATGAGATTAGTTCATTTAGACCTTAAAGGAG |
T |
T |
C_____52904_10 |
|
|
hypothetical
protein FLJ23825 |
FLJ23825 |
Intron |
17 |
81064606 |
0.28 |
0.32 |
0.08 |
0.09 |
hCV52904 |
CTGCAGAGGACGGGCGCCCCAGGATTGTTTCAGGTTGAGG[A/G]CCCTGTGGTGGACCTGCCCTCGGGCAGCTGCTGACCCGGC |
A |
A |
C___7969896_10 |
|
|
hypothetical
protein FLJ23825|hypothetical protein MGC4368 |
FLJ23825|MGC4368 |
|
17 |
81083139 |
0.29 |
0.47 |
0.22 |
0.27 |
hCV7969896 |
AAAATGCCTTCGGGGAATTCCTTGGCCAAGAACGGTCCCA[G/T]ATGAGTGCAGGGGCCATGTCCTGATGAACGGAGACCTCCA |
G |
G |
C___7968481_10 |
|
|
nuclear
prelamin A recognition factor |
NARF |
Intron |
17 |
81106153 |
0.26 |
0.43 |
0.07 |
0.17 |
hCV7968481 |
GTTGATGGATGATGCTTCTGCGTCTTCTGCTTTGGTCAAA[G/C]GGGAACTGCCTCCCTCCATTTGCTTATAGAGGGGCTTTTA |
G |
G |
C__11258162_10 |
|
|
PRO0478
protein |
PRO0478 |
UTR
3 |
17 |
81159465 |
0.14 |
0.36 |
0.36 |
0.38 |
hCV11258162 |
TTCTGCACATGCTAACATGATAAACATGGAGATAAGTTGA[T/C]CTTTCAGTGAGGGCCAGAATTCAGACCTTATTTTTTTGAG |
T |
T |
C___7968470_10 |
|
|
PRO0478
protein |
PRO0478 |
Silent
Mutation |
17 |
81159901 |
0.43 |
0.49 |
0.45 |
0.39 |
hCV7968470 |
TCCCACTTGTGCTCAGGGAAGAGTCTTGTGGCCACCGAGG[C/T]GAACATGTATCCTGGACTTCTCATGGGCCTGGGACTCTCT |
C |
C |
C__11258568_10 |
|
|
interleukin
enhancer binding factor 1 |
ILF1 |
|
17 |
81199905 |
0.27 |
0.15 |
0.28 |
0.23 |
hCV11258568 |
ATGAAGCACCTTAGTTGTGGTTTTGTTTGTTTGGCGACTT[A/G]TAATAACACGGTGAGCTGAGCTTGGAAGTGTTGCATCCAT |
A |
A |
C___7969752_1_ |
rs2291395 |
IMS-JST043730 |
interleukin
enhancer binding factor 1 |
ILF1 |
Intron |
17 |
81204952 |
0.43 |
0.49 |
0.44 |
0.4 |
hCV7969752 |
AGCAGCCCCTGGGGGACAGTGTGTAGCCACAGGGCCCTCA[A/G]TGTCACCTGCCTGTCACTCACCTGCCTGTCCAGTGACAGC |
G |
G |
C___7969733_1_ |
rs3751907 |
|
interleukin
enhancer binding factor 1 |
ILF1 |
Intron |
17 |
81208947 |
0.35 |
0.41 |
0.3 |
0.3 |
hCV7969733 |
CCTATCCTTCCCTTTGGCATTCTCCTGTCTTCCTCATCTA[A/G]TCCTGCTAATGGACAGAAGTTTTGAAGTTTGCAGAGACAG |
A |
A |
C__11258596_10 |
|
|
interleukin
enhancer binding factor 1 |
ILF1 |
Intron |
17 |
81210456 |
0.43 |
0.5 |
0.44 |
0.41 |
hCV11258596 |
TATTCTGATGGTTTGAGATACCAGTTACCTGGGGCTTTGT[G/C]AGTGTGTTTCTAAGAAGCTTTATTAGACTCTAATGTGTTT |
G |
G |
C___1180405_10 |
|
|
interleukin
enhancer binding factor 1 |
ILF1 |
Intron |
17 |
81224405 |
|
|
0.06 |
0.01 |
hCV1180405 |
TCTCAGAGTCCGTCCGAGGCCGGTGCACAGAAAACCGCAC[A/G]GATGTTCTGACATTGACAAGTGGAGACACCAGAACCTCCG |
A |
A |
C__11258639_10 |
|
|
hypothetical
protein DKFZp434D1428|interleukin enhancer binding factor 1 |
DKFZp434D1428|ILF1 |
Intron |
17 |
81230156 |
0.11 |
0.23 |
0.22 |
0.16 |
hCV11258639 |
AAGCCCCGCGCCCCCCTGGCGGAGCCCAGCCCTGTTCACC[G/T]CGTGCTGTGCGGGTGCCTGTGCCAGGATCAGCTGGCTGGA |
T |
T |
C___1180387_10 |
|
|
hypothetical
protein DKFZp434D1428|interleukin enhancer binding factor 1 |
DKFZp434D1428|ILF1 |
Intron |
17 |
81237791 |
0.41 |
0.12 |
0.29 |
0.26 |
hCV1180387 |
TGCAGTTTTTTGGGGTCCCAAGGGCCCAGCCCAGGCTCCT[A/G]TGCCCTTGGCCACCGTGGGCCAGTCCCTGGGGTCTTGTGG |
A |
A |
C__12042902_20 |
|
|
hypothetical
protein DKFZp434D1428|interleukin enhancer binding factor 1 |
DKFZp434D1428|ILF1 |
|
17 |
81239234 |
0.09 |
0.4 |
0.17 |
0.26 |
hCV12042902 |
GTATTTGGGGTGTCCCTCCGGCTCTAGGCGGCCTCTGACC[T/C]GCTGTCTACTCCCCACCTTCGGTGAGCGGCCGCCATGGTG |
T |
T |
C___1180373_10 |
|
|
hypothetical
protein 628 |
LOC56270 |
Intron |
17 |
81253345 |
0.2 |
0.16 |
0.23 |
0.13 |
hCV1180373 |
TATTTTGGAAGGAAACTGGCTGAGGCCAAACTGTGAAGAC[A/G]AGAAAAGAAAGGGTGGTTCAAAGTTTACAGGAAAAAAAAT |
G |
G |
C___1180368_10 |
rs3826310 |
|
hypothetical
protein 628 |
LOC56270 |
Intron |
17 |
81262524 |
|
|
0.24 |
0.16 |
hCV1180368 |
TGATATTTTTATGCTACTGTGTCTGGAAAAAATAAGAAAA[G/A]TCTGAAAGTAGAATATCCTCGATCTGGCTCAAGCGTTTGC |
A |
A |
C___1180346_10 |
|
|
hypothetical
protein 628 |
LOC56270 |
|
17 |
81280863 |
0.22 |
0.13 |
0.24 |
0.17 |
hCV1180346 |
CAGACACGATAGGTGCTAAGTCACAACTCCTGTCCTTGTA[C/G]AAATGTTACTAAGTGACAAGCACATCCATGCAGGGCATTT |
G |
G |
C___1180343_10 |
rs4789816 |
|
RAB40B,
member RAS oncogene family|hypothetical protein 628 |
RAB40B|LOC56270 |
|
17 |
81286643 |
|
|
0.3 |
0.33 |
hCV1180343 |
ACCTGCCTCCACCCCGTCTGTCATCCTCATCCCACCCTCG[A/C]CACTTGCCTGAGCTGGTGCTGACCTCTTAGCCATGGGGAG |
A |
A |
C___1180342_10 |
rs4789817 |
|
RAB40B,
member RAS oncogene family|hypothetical protein 628 |
RAB40B|LOC56270 |
|
17 |
81286802 |
|
|
0.41 |
0.37 |
hCV1180342 |
GATTCCCATACGAGAGGGGCTCCTCCCTGAGAGCGACCAG[A/G]AGCCTTCCGATGGCGGAGCGAGTTGGGCCGCCCCGGCTGT |
G |
G |
C__25611807_10 |
|
|
RAB40B,
member RAS oncogene family |
RAB40B |
Intron |
17 |
81301296 |
|
|
0.24 |
0.17 |
hCV25611807 |
GTTAGAGACGGCTTAGGCCTGAGGCTGCAGCTAACAGGAC[T/G]CTGGAAGTCTCACGTTCAGGGAAGAAAAGGGTTTCTCATC |
T |
T |
C__15914229_10 |
rs2248257 |
|
RAB40B,
member RAS oncogene family |
RAB40B |
Intron |
17 |
81312804 |
0.48 |
0.43 |
0.36 |
0.44 |
hCV15914229 |
TCCCCCGGGTCTCCGTTTCCCTGGCTATGAATGGGGAACC[G/A]ACCGCCTCGTGGGACGCACTCACCACAGCTCCTCAAAATG |
G |
G |
C___1180287_10 |
|
|
fructosamine-3-kinase-related
protein|hypothetical protein FLJ12171 |
FN3KRP|FLJ12171 |
|
17 |
81346921 |
0.2 |
0.29 |
0.1 |
0.05 |
hCV1180287 |
TCGTCAGGGGGAGGGATGCAGGCTAAACGTACAAACTTCA[G/A]TTGGAGCCGGTGCTGCAGTTGTTGGTGGCCGAAGGCCACC |
G |
G |
C__11258165_10 |
|
|
fructosamine-3-kinase-related
protein|hypothetical protein FLJ12171 |
FN3KRP|FLJ12171 |
|
17 |
81350439 |
0.19 |
0.28 |
0.1 |
0.05 |
hCV11258165 |
CTGCTGGAACGGAAAGTCTGAGAAAGACAGCAAGAGCAGG[A/C]CAGAGCAAAGCAGGACGCGGGAGTGAAGGCCTGCAGTGTG |
C |
C |
C___7460215_1_ |
rs1046875 |
IMS-JST028369 |
fructosamine-3-kinase|fructosamine-3-kinase-related
protein|hypothetical protein FLJ12171 |
FN3K|FN3KRP|FLJ12171 |
UTR
3 |
17 |
81364239 |
0.31 |
0.29 |
0.48 |
0.5 |
hCV7460215 |
GCCAGCGCCCCCGGGCACTGCTGCTCATAGGTACCTTTCC[A/G]CTGCCTCCTCCCTGCTCTCCTGTGCAGGAATGTCTCTGAG |
A |
A |
C___7460198_10 |
rs2256316 |
|
fructosamine-3-kinase|fructosamine-3-kinase-related
protein|hypothetical protein FLJ12171 |
FN3K|FN3KRP|FLJ12171 |
Intron |
17 |
81372618 |
|
|
0.11 |
0.07 |
hCV7460198 |
TTGGCCCTTGGGAGGTGGCACCTGCTGGGTGAGCCCGGCT[C/G]AAGCGTTCTGTGAAGGTTTGTGTCTGCACGATCCGTGACC |
G |
G |
C____563079_10 |
|
|
fructosamine-3-kinase|fructosamine-3-kinase-related
protein|hypothetical protein FLJ12171 |
FN3K|FN3KRP|FLJ12171 |
Intron |
17 |
81372712 |
0.48 |
0.23 |
0.47 |
0.44 |
hCV563079 |
CATGCGCAGCGCACAGGCTTCTAGGGGTGGTTTTAACTTT[T/C]CTATCCAGCAAGCGTCGGGGGATGTGAGGCTTGGGGTCCT |
C |
C |
C___1180268_10 |
rs1056534 |
|
fructosamine-3-kinase|tubulin-specific
chaperone d |
FN3K|TBCD |
Silent
Mutation |
17 |
81387414 |
0.3 |
0.46 |
0.42 |
0.39 |
hCV1180268 |
ACCACTGGAACCACTTCGGGCGGGAGTACAGGAGCCCTTC[C/G]TTGGGCACCATGCGAAGGCTGCTCAAGTAGCGGCCCCTGC |
C |
C |
C_____19853_10 |
rs689512 |
|
fructosamine-3-kinase|tubulin-specific
chaperone d |
FN3K|TBCD |
Intron |
17 |
81394515 |
0.24 |
0.31 |
0.44 |
0.39 |
hCV19853 |
CTGGTGGAGGGGCTAGCCATGCTGGATGGCGTGGCAGGCA[C/G]TGGGCTCCCCAGGCCATATCTTATAGGAGGTCTTGGGTTC |
C |
C |
C___1715263_10 |
rs615630 |
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81409340 |
0.17 |
0.03 |
0.11 |
0.07 |
hCV1715263 |
CCCGGGAAGTCTTTGGACTCTGTGGCTTTCTCTGAGGGAG[C/T]GTGCAGCAGTGTTTGGGCACAGAAGACCTCTGACCCTGAA |
T |
T |
C___3080506_1_ |
rs2292972 |
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81444601 |
0.25 |
0.31 |
0.44 |
0.41 |
hCV3080506 |
GCTGGCCCTGCCGGGTCACGAGCAGGCCGGGTTTACCTGT[C/T]TATCTTCAAAATGTTCCCTTGCTTTTCCACATCCTCATCA |
C |
C |
C___1715289_10 |
rs662669 |
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81454856 |
|
|
0.48 |
0.49 |
hCV1715289 |
ATCATAAACGAAAAGGGTAAAGCTATGGTTCAGAAACTGA[T/C]ACGTGATGTGGAATACACTGGCCCATGACCTTCGCATGGT |
T |
T |
C__11258355_10 |
|
|
hypothetical
protein FLJ13841|tubulin-specific chaperone d |
FLJ13841|TBCD |
Silent
MutationIntron |
17 |
81467278 |
0.25 |
0.49 |
0.4 |
0.36 |
hCV11258355 |
CTTCTGTCCCAGTCTTCTGTGGAACAGCAGCAGCAGGTTC[C/T]GCAGCTCGTGGTCGACCGGGGAAGGCGGGCCTCGGAGCCT |
C |
C |
C___1674442_10 |
|
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81488278 |
0.4 |
0.49 |
0.32 |
0.22 |
hCV1674442 |
GAATCACTTGGTGACTCGGCCTCAGACACGTGTACAGAAA[A/C]GGAGAAAGGTTCACTCTGCACAGGGCGGGTGGGAAGAGGG |
A |
A |
C___1674439_10 |
|
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81488542 |
0.43 |
0.45 |
0.32 |
0.22 |
hCV1674439 |
ATGTTAAGAATATCTTTTGCCAGGAAATTTGGTAGCTTAG[G/T]CAAAATAGACGTTCCGAGAGAAATGTAATTTATCAAAGTT |
G |
G |
C___1674429_10 |
rs733342 |
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81500893 |
|
|
0.26 |
0.1 |
hCV1674429 |
AGAGTGGGTAAAAGATGAGTCATCTCTTGTGTGATTTATC[G/A]GCTTCACTTGTGCTTCCAGGGCTCTTTGAAGCGTCTCACT |
G |
G |
C___1674415_10 |
|
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81513260 |
0.16 |
0.13 |
0.2 |
0.07 |
hCV1674415 |
ATTAAACCTGTTTGTATTTATTTCTCGATGAGCCAGTTTT[G/A]TTCTGAGAATGAGAAAATAGAGCCGTTTTAATAAATGTCC |
A |
A |
C___1674406_10 |
|
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81522555 |
0.18 |
0.21 |
0.27 |
0.1 |
hCV1674406 |
CCTAGCTTACCCTGTAGCTTGCAAAATTAAAACAGCCAAA[A/G]GTAAAAGACACCTTTTTGAAGCTTAGTTGGAAATGTGAGG |
A |
A |
C__15961408_10 |
rs2271918 |
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81540019 |
|
|
0.27 |
0.36 |
hCV15961408 |
|
#N/A |
#N/A |
C___1674369_10 |
rs879715 |
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81544679 |
0.2 |
0.48 |
0.27 |
0.11 |
hCV1674369 |
TGGGGGACCTGCGGTGTGATCACTCTGGGAACAGGCTCTC[C/T]GCTGGCGTCATGCTTGTGAACAGCCACCTTGGAGGGTTGC |
C |
C |
C___1674361_10 |
rs1551627 |
|
tubulin-specific
chaperone d |
TBCD |
Intron |
17 |
81554439 |
|
|
0.26 |
0.1 |
hCV1674361 |
TCTAGGTGTGGTCCTCTGGGTTCAGAGCCTGTGGTGAGGG[G/C]TCTACCGCTTCTCCCTTTGGTCATCCTGGACTCCCGTTCT |
G |
G |
C___1674354_1_ |
rs898095 |
|
tubulin-specific
chaperone d |
TBCD |
|
17 |
81569451 |
|
|
0.31 |
0.45 |
hCV1674354 |
ACCACGGAGGAGGAGTGAGGCTCTGCTTTTCATGACTTCC[C/T]TTCCGATTAAGCCTAAGTAGCTCATGTATTAAAGAAAAAG |
T |
C |
C___1674331_1_ |
|
|
tubulin-specific
chaperone d |
TBCD |
|
17 |
81583123 |
0.36 |
0.48 |
0.24 |
0.48 |
hCV1674331 |
ATAGAACTTTCCTACATTTGTAACACAGTCTTAGAAGATA[T/C]TAAAGCAAACATTCAAGAAGAAATTGATCACCTACTACCA |
C |
C |
C___1674327_10 |
|
|
tubulin-specific
chaperone d|hypothetical protein LOC146712 |
TBCD|LOC146712 |
UTR
5 |
17 |
81586541 |
0.45 |
0.32 |
0.32 |
0.42 |
hCV1674327 |
TGGTCCTTTTAACAGTTTTTATCTCCTTGAGATAGGGAAA[T/C]AATAATGGATGAAATTAGGCTAGAATGAGTGCCACAACAC |
T |
C |
C___1674268_10 |
rs731447 |
|
|
|
|
17 |
81622706 |
|
|
0.45 |
0.42 |
hCV1674268 |
GGCCTGTTCTCTGTGCACTCCAAGTGCTGAGTGCCTGGGA[G/T]CAAAGCCCTCATGCTGTCTTCAGGAGCCCTGCTCAGAAAC |
G |
T |
C___1674257_10 |
|
|
|
|
|
17 |
81638893 |
0.24 |
0.39 |
0.32 |
0.35 |
hCV1674257 |
AATTAAAAAACATGAAAATAAAAAACTCTTCTATGGGCAT[C/G]AAAGCTAACACTCAGGAGAAAGCCTGCCCCCACGGGGCAG |
G |
G |
C__11258496_10 |
|
|
|
|
|
17 |
81648183 |
0.27 |
0.27 |
0.3 |
0.35 |
hCV11258496 |
TCTCTCAGGACAAACTACACAATGTAATTCACGTAACCAC[A/G]AACCAGCAACTGCAAATTAAGATTTTTGTAGGTCATGATT |
A |
A |
C____464906_10 |
|
|
|
|
|
17 |
81685200 |
0.39 |
0.23 |
0.32 |
0.41 |
hCV464906 |
CGCCTCTAGGAGAGGGAGAATCGTGCCCCCCAATGATCAC[G/A]TGGACACCAGAATCTTCCAGCTTCACTCTCCATTTTTCAA |
A |
A |
C_____33113_10 |
|
|
|
|
|
17 |
81694862 |
0.42 |
0.3 |
0.33 |
0.36 |
hCV33113 |
GAGGCATCCATTCCTCATGGCAAAGTGGAGTCAAGTCGGC[C/T]GATGCAGGCGAGACACCTGGCCGGCCTGGGGAGCCGCACC |
T |
T |
C__11225040_10 |
rs4986109 |
|
|
|
|
17 |
81728612 |
0.31 |
0.4 |
0.39 |
0.33 |
hCV11225040 |
CTTGAAACCTGCAATAAGAGCAAATAATAAAACCATGTTT[C/T]CCAAGTCCGTCCCGAGTGTAGGAATGCGGGGCGTGCAGAG |
A |
A |
C____199633_10 |
|
|
|
|
|
17 |
81736778 |
0.38 |
0.49 |
0.41 |
0.33 |
hCV199633 |
CCACTGTGTGCTGCCAGCCGGGCGGGCCGTGATTTATAAA[A/G]ACAGCGGAGGCTTGGCTGGTGTCGGGGCGGTGAGGTCACG |
C |
C |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|