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___2142274_10 |
|
|
phosphatidic
acid phosphatase type 2C |
PPAP2C |
|
19 |
227245 |
|
|
0.12 |
0.24 |
hCV2142274 |
ACTTTGGTCCCCCCGAAAAGTCCTCACAGTTCAGAATGTC[G/A]CGTCCTGCCAGGTGTTTTCTTCCCTTGGAGGAGACGTGCC |
C |
C |
C___9474637_10 |
rs895345 |
|
phosphatidic
acid phosphatase type 2C |
PPAP2C |
|
19 |
243583 |
0.49 |
0.31 |
0.17 |
0.36 |
hCV9474637 |
GGAAGCAGGGTCGAGGAGCTCCCAGTTGAAGTCCAGTTGC[T/C]GAGACGCACCCTGTTTTGGTGTTGCTGGGGCAGGGGGCTG |
G |
G |
C___2830416_1_ |
rs2303815 |
|
Theg
homolog (mouse) |
THEG |
Intron |
19 |
325016 |
0.24 |
0.1 |
0.01 |
0.05 |
hCV2830416 |
ACCCAGGGCAAGAGGCAGTGGGGCTCGGACCCTGTCTCCT[C/T]GCAGGAAGGGACGCTGTGGTAAGGGGTATGCCTGGATCTC |
A |
A |
C___2830424_10 |
rs3764571 |
|
Theg
homolog (mouse) |
THEG |
|
19 |
327382 |
0.41 |
0.46 |
0.21 |
0.24 |
hCV2830424 |
AGTGGATTCCAAGGCTGCTAAGTTCAGAGGCTCGACAGCC[A/G]CATCAAAGGCCCACCTTTCAGTTCATCTGCCCTCAGATGG |
C |
C |
C___2843107_10 |
rs1465449 |
|
|
|
|
19 |
350170 |
0.39 |
0.37 |
0.19 |
0.29 |
hCV2843107 |
AAAGCACTCACGCATAAACCTCATTCAGACCACGGGCCAC[C/T]GTAGGTCAAAGGTGCGTCCGAGTGTTTACTAAGGAACGGC |
A |
A |
C__16183456_10 |
rs2287955 |
|
hyperpolarization
activated cyclic nucleotide-gated potassium channel 2 |
HCN2 |
|
19 |
373665 |
|
|
0.29 |
0.12 |
hCV16183456 |
TACCCTTTGTACATGCTTAGTACGTGCCTAGAAAACCCAA[C/T]CTGGGGAGTCCAGGTTGCTACACATGTGAGCCCACCGCAG |
A |
A |
C___2658634_1_ |
rs2075019 |
IMS-JST002344 |
hyperpolarization
activated cyclic nucleotide-gated potassium channel 2 |
HCN2 |
|
19 |
392195 |
0 |
0.18 |
0.24 |
0.17 |
hCV2658634 |
AAAGAGACCGACGAGGGCAAGACGGTTAAATGAACAAGCA[C/G]CATAGAGCGTCTGGGGGAACCACCAGGCTCCTGAGAAACA |
C |
C |
C___2596117_20 |
rs2302217 |
IMS-JST058520 |
hyperpolarization
activated cyclic nucleotide-gated potassium channel 2|mucosal vascular
addressin cell adhesion molecule 1 |
HCN2|MADCAM1 |
|
19 |
449524 |
0.49 |
0.19 |
0.27 |
0.32 |
hCV2596117 |
CCGTACAGGCCACCTCCGGGTCACCAGGCACCAGGGCTGC[T/C]GGGGAGACGGTCAGCTGGTCCGGGAAGGCTGTGATGGAGG |
T |
T |
C__11777974_10 |
|
|
hyperpolarization
activated cyclic nucleotide-gated potassium channel 2|mucosal vascular
addressin cell adhesion molecule 1 |
HCN2|MADCAM1 |
|
19 |
451359 |
|
|
0.14 |
0.21 |
hCV11777974 |
AGGACCCACAGTCAGGGAAGTCCACTGGACAGATGAGGAA[A/G]CTGAGGCACCACAGTGGGCAGGATGGGAGTCCGGGCATTC |
A |
A |
C___1149973_10 |
|
|
cell
division cycle 34|hyperpolarization activated cyclic nucleotide-gated
potassium channel 2 |
CDC34|HCN2 |
Intron |
19 |
483930 |
0.29 |
0.15 |
0.18 |
0.26 |
hCV1149973 |
GAACTCGGGGTTTGGGTCCCAAGAAGCCACCTGTTCAGTG[C/G]ACTCTGAGAAAGGCCAAGACCAGCTGGGATGAGCGAGCCC |
C |
C |
C__11777798_10 |
rs3760879 |
|
cell
division cycle 34|granzyme M (lymphocyte met-ase 1)|hyperpolarization
activated cyclic nucleotide-gated potassium channel 2 |
CDC34|GZMM|HCN2 |
|
19 |
493494 |
|
|
0.08 |
0.07 |
hCV11777798 |
CTGTGTGCCCAGGGCCACGGCTCCCCACCCCGAGGGTGTG[T/C]CTGGACGGAGCTGGAGCCGCCGGAGTGCTGATCGGGGGCA |
T |
T |
C___2886520_10 |
rs3177756 |
|
basigin
(OK blood group)|hyperpolarization activated cyclic nucleotide-gated
potassium channel 2 |
BSG|HCN2 |
Silent
Mutation |
19 |
531665 |
0.15 |
0.25 |
0.42 |
0.45 |
hCV2886520 |
TGGCCGTCTCCCCCTCGTTGATGTGTTCTGACGACTTCAC[A/G]GCCTTCACTCTGGGAGGCCCTGACAGGAGGGTGAGAGAGA |
G |
A |
C___1841644_1_ |
rs2072310 |
IMS-JST008255 |
basigin
(OK blood group)|hyperpolarization activated cyclic nucleotide-gated
potassium channel 2 |
BSG|HCN2 |
Intron |
19 |
533693 |
0.17 |
0.26 |
0.43 |
0.44 |
hCV1841644 |
GCGCTCAGACTGGACCCACCTCCCAGCGACCCACAGGCGG[G/A]ACCCAGGAGCCCACACCTGGCTAGCAGATCCCGCCCACCA |
A |
G |
C___2886532_1_ |
rs8259 |
|
basigin
(OK blood group)|hyperpolarization activated cyclic nucleotide-gated
potassium channel 2 |
BSG|HCN2 |
UTR
3 |
19 |
533927 |
|
|
0.27 |
0.32 |
hCV2886532 |
CAGCTCCCGGGCTCTCGTGAAACACTTCAGAAGGAAAAAA[T/A]CCTAAGGAACAGAATCCTGAATGGAGAAAACCCAACTTTT |
A |
A |
C__11777934_10 |
|
|
hyperpolarization
activated cyclic nucleotide-gated potassium channel 2 |
HCN2 |
Intron |
19 |
556885 |
0.14 |
0.38 |
0.13 |
0.19 |
hCV11777934 |
CAGTGCCGGGGCTGCAGTCCTGGGTCCCCCTCTGTAAAGA[G/A]GCCTGAGTCCTCCCGTGTAAGGGGGTCTTGTCCCCACCCC |
A |
A |
C___2264288_10 |
rs757331 |
|
fibroblast
growth factor 22|paralemmin|ring finger protein 126|hypothetical protein
FLJ20552 |
FGF22|PALM|RNF126|FLJ20552 |
|
19 |
598251 |
0.24 |
0.05 |
0.48 |
0.44 |
hCV2264288 |
GCGTTAAAGCGCCAGGGCCCAGCGCCTCTGCCCCACGCTT[C/T]GGTCACACCTCAGCCACGCGGGTTCCTGGCCCCTTCTGAA |
C |
C |
C__22275264_10 |
|
|
fibroblast
growth factor 22|paralemmin|ring finger protein 126|hypothetical protein
FLJ20552 |
FGF22|PALM|RNF126|FLJ20552 |
Silent
Mutation |
19 |
603238 |
0.33 |
0.42 |
0.14 |
0.13 |
hCV22275264 |
TGCCCCCTCCACAGCTCCCACAGACCAGAGCCGGCCACCG[T/C]TGGAGGTGAGTCGCCCGCCCCTCGTGCTTCCTGATCGTGT |
C |
C |
C___2561864_10 |
|
|
fibroblast
growth factor 22|paralemmin|ring finger protein 126|hypothetical protein
FLJ20552 |
FGF22|PALM|RNF126|FLJ20552 |
Intron |
19 |
604468 |
0.31 |
0.24 |
0.11 |
0.14 |
hCV2561864 |
GGCACAGCTGTGGCTTGAGGCTGGTGCTGGGGAACTGTGA[A/G]CGTGGTTTTGGGACTCACCCACGGCTGTCCCTGGGCAGGG |
G |
G |
C___2561895_1_ |
rs2301742 |
IMS-JST057909 |
follistatin-like
3 (secreted glycoprotein)|paralemmin |
FSTL3|PALM |
|
19 |
626513 |
0.41 |
0.13 |
0.24 |
0.26 |
hCV2561895 |
AGATTCAGCAAACACTGTTTCCAGCAGAGGCGTTTCCAAC[C/A]ATGTATGACAGCGACATCTGCGTGGGCCTGGAGGCGCTGC |
C |
C |
C__11382033_10 |
rs1860315 |
|
paralemmin |
PALM |
|
19 |
655761 |
|
|
0.38 |
0.23 |
hCV11382033 |
ATAAAATAAAAGATTCAGGGTTTGAAGGGTGGTGGAGGCA[T/G]TTTGTGTAAAAATAGGAGGAAGTGAGGAGGCCGTGGGGAG |
G |
G |
C___2589802_1_ |
rs2283579 |
|
paralemmin |
PALM |
Intron |
19 |
666765 |
|
|
0.37 |
0.39 |
hCV2589802 |
CCCCCTCTGGCTCTGCCATTTCTCTCCATGCTGCCCCTGC[A/G]GCCACAATCAAGGCTTGGCCATGACTTGCTCCTCCCTGGG |
A |
A |
C___2549672_10 |
rs2384776 |
|
hypothetical
protein LOC126353|paralemmin |
LOC126353|PALM |
Intron |
19 |
697206 |
0.35 |
0.4 |
0.21 |
0.14 |
hCV2549672 |
GCAGGAGGGACAGAGAGAGTGACCTGGCTCAGGCAGGAGG[A/G]AAACCTTGGCAAGGCTTGTATCCTCCTCCAGGCTAAAGAG |
A |
A |
C___2549682_10 |
|
|
hypothetical
protein LOC126353|paralemmin |
LOC126353|PALM |
Intron |
19 |
705785 |
0.13 |
0.27 |
0.37 |
0.44 |
hCV2549682 |
CGCCCTCCTCCTCTACCTGCAGCTCTCTCTGTCTCGAGGC[C/T]GCCTGTTTCTGCTTCTCCACGGCTTCCTCTGCTGAAGCCC |
C |
C |
C__11777690_10 |
|
|
hypothetical
protein LOC126353 |
LOC126353 |
Intron |
19 |
712486 |
|
|
0.14 |
0.05 |
hCV11777690 |
GAAGAGTGGAAGGCATCCCCTGCCCTGAGTGTTCTCAACA[C/T]GTGTCCCACGATCACCCAGACTCACAGCCATCCCCCTTGC |
T |
T |
C___3153419_10 |
rs653847 |
|
azurocidin
1 (cationic antimicrobial protein 37) |
AZU1 |
Intron |
19 |
781621 |
0.45 |
0.19 |
0.42 |
0.47 |
hCV3153419 |
CTGCCGGGAATTAAACGCAAACCACTTACAGACTACAGTT[C/A]ATGTCGCTGACACTTCTGCTCCCAGGGGTCCCCATGAGGC |
A |
C |
C___3153452_10 |
rs3761007 |
|
D
component of complement (adipsin)|elastase 2, neutrophil|proteinase 3 (serine
proteinase, neutrophil, Wegener granulomatosis autoantigen) |
DF|ELA2|PRTN3 |
|
19 |
801574 |
0.16 |
0.03 |
0.14 |
0.14 |
hCV3153452 |
CCCGAGAGCCATGGGGGTCCACTTGCCTGTGGTCACGTCA[A/G]GACTCCAGCCTGGCCCAGGCTCTGCGTGTCCCCGGGTGCC |
A |
A |
C___3153464_10 |
rs1683570 |
|
D
component of complement (adipsin)|thyroid hormone receptor associated protein
5|thyroid hormone receptor-associated protein, 95-kD subunit |
DF|THRAP5|TRAP95 |
|
19 |
822447 |
0.34 |
0.22 |
0.39 |
0.38 |
hCV3153464 |
ATGAGGGAGTCTCATGACAGGCCAGAGACGGGGAGAGAAC[C/T]CTGGGGTCACCCAGCCAGGCAGGCAGAGCCGGGGCCCCGA |
A |
A |
C____968911_1_ |
|
|
G
protein-coupled receptor 54|AT rich interactive domain 3A (BRIGHT- like)|dead
ringer-like 1 (Drosophila) |
GPR54|ARID3A|DRIL1 |
|
19 |
880257 |
0.04 |
0.27 |
0.09 |
0.09 |
hCV968911 |
GGCTGGCATCCGGCTCATTCACGCATTTGCAGAAACCTGA[A/G]GGGGAAAAAAGGCACAGTCAGAGCAGGCCTGAGCTCCTCA |
T |
T |
C___3153493_1_ |
|
|
G
protein-coupled receptor 54|AT rich interactive domain 3A (BRIGHT- like)|dead
ringer-like 1 (Drosophila) |
GPR54|ARID3A|DRIL1 |
Silent
Mutation |
19 |
880543 |
0.05 |
0.31 |
0.1 |
0.09 |
hCV3153493 |
GGCGCGCCCGCTGCTGCCGCTGCAACAGCGTCTCCATCAC[A/G]GCCTGTAGTTTCATGGCCCTGCGGCCCGGGCCACCACCAC |
T |
T |
C___3153498_10 |
rs350152 |
|
AT
rich interactive domain 3A (BRIGHT- like)|dead ringer-like 1 (Drosophila) |
ARID3A|DRIL1 |
Intron |
19 |
885022 |
0.26 |
0.5 |
0.44 |
0.45 |
hCV3153498 |
TTAATGAAATTAAAGAGAATCCACTCTCAGCATGCTCATC[T/C]GTATCATCTTAAACCCAGAAAAGATCACAAGACCCCTCCT |
G |
A |
C___3153506_10 |
|
|
AT
rich interactive domain 3A (BRIGHT- like)|dead ringer-like 1 (Drosophila) |
ARID3A|DRIL1 |
Intron |
19 |
890697 |
0.1 |
0.3 |
0.5 |
0.34 |
hCV3153506 |
CGCCACGAGGGGAACGTCCATACAGCTGAAAAGAACCAGG[C/T]GGCTCGGAACATCCCAATTACGACGCGAACGCACCCAAGA |
A |
G |
C___3153548_1_ |
rs2238585 |
|
AT
rich interactive domain 3A (BRIGHT- like)|dead ringer-like 1 (Drosophila) |
ARID3A|DRIL1 |
Intron |
19 |
913161 |
0.31 |
0.48 |
0.43 |
0.44 |
hCV3153548 |
AAGATTGTGAAGTCTAGGGTGATGGGCAGGTTCACCTGAC[G/A]GATTCTCAGCTCCAAGGGCCCCCATTACAGAGCAGGAAGC |
T |
C |
C___2565653_10 |
rs2301811 |
|
WD
repeat domain 18 |
WDR18 |
Intron |
19 |
935578 |
0.44 |
0.45 |
0.41 |
0.35 |
hCV2565653 |
|
#N/A |
#N/A |
C___2565682_10 |
|
|
WD
repeat domain 18 |
WDR18 |
|
19 |
949798 |
0.4 |
0.21 |
0.34 |
0.27 |
hCV2565682 |
AAAATCCTCCATGAAATGAATAAAATGCCAAGTGCCAGCC[G/A]GTAAAATGGATTGGATTTTGAGACGACTGGGGAGGGACGG |
C |
C |
C___2565692_10 |
|
|
WD
repeat domain 18|chromosome 19 open reading frame 6|hypothetical protein
MGC4022 |
WDR18|C19orf6|R32184_3 |
|
19 |
954158 |
|
|
0.12 |
0.17 |
hCV2565692 |
GCACCGCCACCAGCACATCCAGCAGCGTCTCCAGGGGGCT[A/G]GCCCAGTGCAGCTGCAGGTGGAATGGGTTCTGGGAGAGGG |
T |
T |
C___2565705_10 |
rs739883 |
|
chromosome
19 open reading frame 6|hypothetical protein MGC4022 |
C19orf6|R32184_3 |
|
19 |
957768 |
0.36 |
0.47 |
0.19 |
0.19 |
hCV2565705 |
CTGTGCAGCGTTTACATTGGAAGAGCCGCCGGCAGCAGTC[A/G]GCTCACCTGACAGCATGGCGTCTACGCTTTACTACCGTTT |
T |
T |
C___2565721_1_ |
rs7146 |
IMS-JST011623 |
chromosome
19 open reading frame 6|hypothetical protein MGC4022 |
C19orf6|R32184_3 |
Silent
Mutation |
19 |
965398 |
|
|
0.44 |
0.39 |
hCV2565721 |
ACATCGTCTTCTCCCGCTCGCCCATCAACTGCCTGGAGCA[T/C]GTGCGTGACAAGTGGCCGCGTGAGGGCATCCTGCGTGTGG |
A |
A |
C___2565736_1_ |
rs2240167 |
IMS-JST011628 |
calponin
2|chromosome 19 open reading frame 6|hypothetical protein MGC4022 |
CNN2|C19orf6|R32184_3 |
Intron |
19 |
969541 |
|
|
0.45 |
0.39 |
hCV2565736 |
AGGCTGCCTTGAGTTCCAGAAGGCTCCTCTGCTTCCTGCC[T/C]GCCTGGCTTCCGGGGGTCTCCCTGCAGAGAGCCAGGTCCT |
A |
A |
C___3132346_10 |
|
|
calponin
2|chromosome 19 open reading frame 6|hypothetical protein MGC4022 |
CNN2|C19orf6|R32184_3 |
Intron |
19 |
978610 |
|
|
0.12 |
0.14 |
hCV3132346 |
CCCCCGCCCCCCACTTTCCCTGGGAATCCTGTCCAGGACC[C/T]TGCTGTGTGACCCTGCAGAAGTGTCTGGTCCTCTCTGAGC |
A |
A |
C___1438453_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 7|calponin 2 |
ABCA7|CNN2 |
UTR
3 |
19 |
989445 |
0.08 |
0.31 |
0.14 |
0.15 |
hCV1438453 |
ACCTGGCCCCGGGGCAGGTCTGAGGGTCTGAAGTCTGTTG[G/A]TCTGAAGGTCCTAGGCAAATCCAGTCACTTGGGAGCCGGA |
C |
C |
C___1438473_10 |
rs3764652 |
|
ATP-binding
cassette, sub-family A (ABC1), member 7|calponin 2 |
ABCA7|CNN2 |
|
19 |
1003005 |
0.42 |
0.35 |
0.29 |
0.34 |
hCV1438473 |
GTGGGGAGCCACAGCAGCACAAGCGGCCACCTGCCACCAC[G/A]GCCACACGGTCTCCCAGCAGCTCTGCCTCATCCAGGTGGT |
T |
T |
C__16174309_10 |
rs2242437 |
|
ATP-binding
cassette, sub-family A (ABC1), member 7 |
ABCA7 |
|
19 |
1016563 |
0.29 |
0.34 |
0.44 |
0.38 |
hCV16174309 |
|
#N/A |
#N/A |
C___2561635_10 |
|
|
ATP-binding
cassette, sub-family A (ABC1), member 7 |
ABCA7 |
|
19 |
1025252 |
0.19 |
0.11 |
0.36 |
0.4 |
hCV2561635 |
CACCCAGAACCCCCTCCCTCCAGACCCACCCTGCTGGGAC[C/A]CCAGCTCTCACCCAGCGTCGTCCGCTTCTCCAGGTAGCTG |
T |
T |
C___2561658_10 |
rs3761028 |
|
polymerase
(RNA) II (DNA directed) polypeptide E, 25kDa |
POLR2E |
|
19 |
1036966 |
|
|
0.31 |
0.35 |
hCV2561658 |
CTCACACGAATTCCGGCTGCCTTTCCCTGCAGGAGCCCAG[T/C]GTCATCCGCCCGCCACGGAGCCTCATGGGGGGCAGTGGGG |
A |
A |
C__16164231_10 |
rs2074446 |
|
glutathione
peroxidase 4 (phospholipid hydroperoxidase)|polymerase (RNA) II (DNA
directed) polypeptide E, 25kDa |
GPX4|POLR2E |
Intron |
19 |
1046122 |
0.2 |
0.23 |
0.4 |
0.25 |
hCV16164231 |
|
#N/A |
#N/A |
C___9059193_10 |
rs873289 |
|
KIAA0963 |
KIAA0963 |
|
19 |
1126396 |
0.45 |
0.35 |
0.49 |
0.36 |
hCV9059193 |
GTCACTGAATGAATTAACAAAGTCATGGAGAAATCAACTC[C/T]AGTTTCAGGGGGTTGGAATGGGGGCAGAGGCCTCTGGCTT |
A |
A |
C___2830634_10 |
|
|
serine/threonine
kinase 11 (Peutz-Jeghers syndrome) |
STK11 |
Intron |
19 |
1169219 |
|
|
0.41 |
0.4 |
hCV2830634 |
TGCAGGGGCCACGCGTCCAGGCTCAGGGCGGTAGGGGGTG[A/G]GAGCACAGCGCCCTCTAGTCTGTCATCGGCCGGCGAGGGC |
T |
T |
C___1843710_1_ |
|
|
hypothetical
protein MGC40084|serine/threonine kinase 11 (Peutz-Jeghers syndrome) |
MGC40084|STK11 |
Intron |
19 |
1172545 |
0.25 |
0.17 |
0.41 |
0.49 |
hCV1843710 |
GGGAGGCGCAGGGCAGCACTGCCCTCTGGGGTGGGAGTTC[A/G]GAGGGTGAACAGGGCCCAGAAGCAGGGTGGAGCTGAGGGA |
C |
C |
C___2557546_10 |
|
|
ATP
synthase, H+ transporting, mitochondrial F1 complex, delta
subunit|hypothetical protein MGC40084|serine/threonine kinase 11
(Peutz-Jeghers syndrome) |
ATP5D|MGC40084|STK11 |
Intron |
19 |
1184052 |
0.15 |
0.02 |
0.28 |
0.38 |
hCV2557546 |
GCAGAGGGTGGGGCCTGTGGCCTGCATCCCCTCCCAGCCA[G/T]GCTCGGCTCTCATCCCTGGGAATGTGAGTGGAAGGCGGGT |
C |
C |
C___2557549_1_ |
rs2301759 |
IMS-JST057930 |
ATP
synthase, H+ transporting, mitochondrial F1 complex, delta
subunit|hypothetical protein MGC40084 |
ATP5D|MGC40084 |
|
19 |
1189899 |
0.19 |
0.37 |
0.41 |
0.41 |
hCV2557549 |
GGAGGGACGTAGCAGAGGAGGGGACCCAGGCATGGGCTGG[A/G]AGCCAAGAGCAGAAGCGCCGAGACTGTGAAGCTGGGGAAG |
T |
T |
C___2583700_10 |
|
|
melanoma
associated antigen (mutated) 1 |
MUM1 |
|
19 |
1261821 |
0.14 |
0.26 |
0.2 |
0.25 |
hCV2583700 |
GGGGCCTCCCTGGGAGCTAGAACGGGGTCTCCCTGGTACC[C/T]GACCCGACGGAGGCTGCTCCCAGCCCTTGAGTGCTCAGCC |
G |
G |
C__11695241_1_ |
|
|
melanoma
associated antigen (mutated) 1|melanoma ubiquitous mutated protein |
MUM1|MUM-1 |
Silent
Mutation |
19 |
1308082 |
0.15 |
0.24 |
0.48 |
0.35 |
hCV11695241 |
AACAGTATTAAAACAACACAACACTTAACTTTTCCTCTAG[G/A]GAGAGGATTTGCACAGCTAGAAAATATTCCTTTCTTCTCT |
T |
T |
C___2569116_10 |
|
|
melanoma
associated antigen (mutated) 1|melanoma ubiquitous mutated protein |
MUM1|MUM-1 |
Silent
Mutation |
19 |
1321675 |
0.49 |
0.13 |
0.33 |
0.43 |
hCV2569116 |
CGGGGCTCCCCTTGCTCAGTTGAGGAAGCTTGGTCCCCAA[C/G]ACGTCCTGCTGGATGGATTTTCGGACAGGATAGCCTGCAA |
G |
G |
C___2583690_1_ |
rs2074897 |
IMS-JST002086 |
NADH
dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q
reductase)|guanidinoacetate N-methyltransferase |
NDUFS7|GAMT |
Intron |
19 |
1342235 |
0.49 |
0.13 |
0.26 |
0.35 |
hCV2583690 |
ACGTGGGATTTCACTGAATGTAGATGACACTTTTGATAAG[C/T]GCCATCAGGGCACGGCCAGGCCAGCACTCACGCTACGTCT |
A |
A |
C___1456894_10 |
|
|
DAZ
associated protein 1 |
DAZAP1 |
Intron |
19 |
1375888 |
0.37 |
0.12 |
0.42 |
0.39 |
hCV1456894 |
GTGCGCCGGGCTCTCCAGGCCTCCCCGGCTAGGTGGAGCG[C/T]GACACCGCAAAGCACACCGTCCTCCCGAGGCGGGGCCCAG |
A |
A |
C___1456909_10 |
|
|
adenomatous
polyposis coli like |
APCL |
UTR
5 |
19 |
1402742 |
0.45 |
0.48 |
0.28 |
0.24 |
hCV1456909 |
CTCAGGGGACGCAGTGTGTGGCTTGCCATGTCATCCGGCT[C/T]CTTCTTGGTCTGTCCTGAGTCTCAGGGACCACCATTTGGC |
A |
A |
C____692299_10 |
rs265301 |
|
polyposis
locus protein 1-like 1|hypothetical protein BC008201 |
DP1L1|LOC92840 |
|
19 |
1455618 |
0.39 |
0.49 |
0.5 |
0.4 |
hCV692299 |
ACCCCAGTCACATGCACTCGGTCACAGAGACTCAGGGACA[C/T]GCTGGTAGAACCCCGTCTCGACCTTGCTCATGGGTAGGCA |
A |
A |
C___1456984_1_ |
rs2292455 |
IMS-JST045216 |
|
|
|
19 |
1477613 |
0.44 |
0.35 |
0.12 |
0.24 |
hCV1456984 |
CCGACGCCCCCGCCCACAGTTCCCCTTCCTGGCACTCACT[G/A]AGCTTCAGGTCGCGGTGCAGGATGCACCGCTGGTGCAGGT |
T |
T |
C___1457026_10 |
|
|
|
|
|
19 |
1502092 |
|
|
0.24 |
0.36 |
hCV1457026 |
GGCAGCAATGGCAAAGCAAGGATCCCATGCATTGGCCTCT[C/G]CATGTCTCGGCACAGCTCAGGGAAGCCAAGGGCTGAGGCC |
C |
C |
C___2600412_10 |
|
|
methyl-CpG
binding domain protein 3 |
MBD3 |
|
19 |
1523369 |
0.35 |
0.37 |
0.42 |
0.48 |
hCV2600412 |
AGACAATGGATCCCCCAGGCCCACCCCTGGGCTTCATCAG[T/C]GATGATCACGGCTCCTCTTGTCTCCCATAACCCCCACCCT |
G |
A |
C__25474027_10 |
|
|
transcription
factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) |
TCF3 |
Intron |
19 |
1575007 |
0.28 |
0.3 |
0.41 |
0.27 |
hCV25474027 |
TTGTTCTCATGGCCGGTGGCCGGTTCTCACCCCTTTTGCT[C/T]CTAACAGACACGCAGCCCAAGAAGGTCCGGAAGGTCCCGC |
A |
A |
C____241801_10 |
|
|
|
|
|
19 |
1716502 |
0.43 |
0.47 |
0.36 |
0.41 |
hCV241801 |
GACAGCGTGAAGCGGCGGCTGCCTGGGACTCTGTTCCCCA[G/A]TGAGGAGGCCAGCTCCGCTCTGAGTCCAGGAAAGGGGGAG |
C |
C |
C____348668_10 |
|
|
|
|
|
19 |
1725098 |
0.27 |
0.48 |
0.23 |
0.29 |
hCV348668 |
CGAGCACCCAGTGGACCCTCTGGAGCGCAGAACATCTAAG[A/G]AAGAAGACTTTGGAGGAGGAGGGGAGAGTGCAGGGACCAC |
C |
C |
C___2574449_10 |
|
|
transcription
elongation factor B polypeptide 3 binding protein 1|KIAA1138 protein |
TCEB3BP1|KIAA1138 |
|
19 |
1740556 |
0.32 |
0.32 |
0.42 |
0.42 |
hCV2574449 |
GCCGGAGGTTCGGGCTCCCGCTGGCTGCACCGCCAGCCCA[A/G]GACTCCAGAGCCCGCCGTAGCTCCGAGGTGCTGCAGGAGC |
T |
C |
C___2109380_10 |
|
|
transcription
elongation factor B polypeptide 3 binding protein 1|KIAA1138 protein |
TCEB3BP1|KIAA1138 |
|
19 |
1760598 |
|
|
0.47 |
0.43 |
hCV2109380 |
GGCGGCCCCTCCCGCGCCTCCCTGCTCCAGAGGAGCTGCC[A/G]TGGTACCCTCGGGGAATCTATTTTTTGCTCCTCCTGAGTC |
T |
C |
C___2109384_1_ |
rs2304612 |
|
transcription
elongation factor B polypeptide 3 binding protein 1|KIAA1138 protein |
TCEB3BP1|KIAA1138 |
Intron |
19 |
1768866 |
|
|
0.31 |
0.4 |
hCV2109384 |
GAGGCTGAGGCCTCCTGTCCTCAGTCCTCACTCCCTAGTA[A/G]GGCTCGGTAGATGCAGGTGGTCAGTGCCCCGGGGGCTGTG |
T |
C |
C___2109387_1_ |
rs749109 |
IMS-JST013802 |
transcription
elongation factor B polypeptide 3 binding protein 1|KIAA1138 protein |
TCEB3BP1|KIAA1138 |
Intron |
19 |
1770736 |
0.18 |
0.43 |
0.31 |
0.4 |
hCV2109387 |
CCCAGGCTTCTGTGTAGGACGGACCTGGCCCTGGTGTCCT[C/T]GCTGTCAGCCGCCTTCCTCCGCTGAGTGGGGTCTCCAAGC |
A |
G |
C___2109397_1_ |
rs3746037 |
|
transcription
elongation factor B polypeptide 3 binding protein 1|KIAA1138 protein |
TCEB3BP1|KIAA1138 |
Intron |
19 |
1779948 |
0.17 |
0.46 |
0.3 |
0.4 |
hCV2109397 |
CTCCACACCCGCCTGCCCCGGGGAGTTCCAGCCTGTCGAG[T/G]GTCCACCCCACCATGGTCATTGTGCGCATTTCATGAGCCG |
C |
A |
C___2109453_10 |
|
|
hypothetical
protein MGC5244 |
MGC5244 |
Intron |
19 |
1831372 |
|
|
0.37 |
0.19 |
hCV2109453 |
TCCCAGTGTCCCGCTTCACAGATGGGAATCCTGAGGCTCC[C/G]TGGCTGGCCTCTGCAGCCCAGGCTGCCTGTCCCCCTGCCA |
C |
C |
C__11458630_10 |
rs1866379 |
|
hypothetical
protein MGC5244 |
MGC5244 |
|
19 |
1838431 |
0.27 |
0.27 |
0.33 |
0.19 |
hCV11458630 |
TTGAGCTGGAAAAGGCACGAAAGCTGGGGGGAAGGCACAT[A/G]TGAGAGAAGGCCTGAAAAGCAAGGCTTCCCACCAATTCAC |
T |
T |
C___2109496_10 |
|
|
hypothetical
protein BC011824|secretory carrier membraneprotein 4 |
LOC113179|SCAMP4 |
Intron |
19 |
1865648 |
|
|
0.29 |
0.21 |
hCV2109496 |
GCGTCCCCCAAATCCCGGCTTCAGCCCACAAGGGGTGGGC[A/G]CCACAAGGTGAACGCTGCAGGGCCTAAGACCCCATCGCAT |
T |
T |
C___2109507_10 |
rs4807168 |
|
hypothetical
protein BC011824|secretory carrier membrane protein 4 |
LOC113179|SCAMP4 |
Intron |
19 |
1871289 |
|
|
0.09 |
0.07 |
hCV2109507 |
AGTCTTGTGGGGCAGGAACCCCAGAACAGGAGCTTGCTAA[C/T]GGGAGCCCAGGAAACCAAAGGCACCCACGGCTCCGTGAGC |
A |
A |
C___2109513_1_ |
rs1061828 |
|
hypothetical
protein BC011824|secretory carrier membrane protein 4 |
LOC113179|SCAMP4 |
UTR
3 |
19 |
1876970 |
0.28 |
0.2 |
0.46 |
0.47 |
hCV2109513 |
TAAGTGCAGAAACATGTATTTATTTCCAGGATATTTTCAC[G/A]TAACAAAACCCCAACGATGCGGCGAGGGGCCACACACGGC |
T |
T |
C___2109518_10 |
|
|
hypothetical
protein BC011824|secretory carrier membrane protein 4 |
LOC113179|SCAMP4 |
|
19 |
1878763 |
|
|
0.46 |
0.49 |
hCV2109518 |
AATCTTTGTTGTGGTAAAACACCCTTTTGCGACAGAGCTG[A/C]TGAGCCATCCCTCTTGTCCTCTATGAAGCCAGATGTTCAA |
G |
G |
C___2582615_10 |
|
|
casein
kinase 1, gamma 2 |
CSNK1G2 |
Intron |
19 |
1923214 |
0.07 |
0.24 |
0.16 |
0.06 |
hCV2582615 |
AAATCCAGAAACAGCCAAGCGTCCCTGCGCTGGGAGCAGA[C/T]GAAGAAGGGCTGGTGTGTCCTCCGATGGACGGCCTCCCGG |
G |
G |
C___2582625_10 |
|
|
BTB
(POZ) domain containing 2|casein kinase 1, gamma 2 |
BTBD2|CSNK1G2 |
Intron |
19 |
1927640 |
0.49 |
0.14 |
0.27 |
0.37 |
hCV2582625 |
CCGTGGAGACAATGGGTTTGGAAACCCTGCTAAGGTGGAT[G/T]CAAAGTCCCAAAGCCCGGTGGCTGAGCTGTACACAGTCAT |
A |
A |
C___2570554_10 |
|
|
BTB
(POZ) domain containing 2 |
BTBD2 |
Intron |
19 |
1954029 |
0.23 |
0.36 |
0.47 |
0.39 |
hCV2570554 |
TGGCGTCTTTCTTTTGATGTTGACGTAGCCACTCCAGCTC[C/T]CATGGTTTCTGTTTGGATATAAAGGAAAATCTGTTTTTAC |
G |
G |
C___2570587_10 |
|
|
BTB
(POZ) domain containing 2 |
BTBD2 |
|
19 |
1972909 |
0.23 |
0.34 |
0.1 |
0.06 |
hCV2570587 |
AGAGGTCTCTGGAGGGTCTTGCCCTGGCCATTAAATGCTA[C/T]AGGCTAGAAGAGTCACACCTCTTCTGTTCATAACTCACTG |
A |
A |
C___2675986_10 |
rs2395891 |
|
MAP
kinase-interacting serine/threonine kinase 2 |
MKNK2 |
|
19 |
1983148 |
0.32 |
0.44 |
0.44 |
0.45 |
hCV2675986 |
CGGGGATCCTTTAAAAAGACAGCAGCACATGCTACTGCAC[C/A]ACACAGATTGTCAGAGAAACCAGGTGTGGGGTGTGGACTG |
G |
T |
C___9611303_10 |
|
|
adaptor-related
protein complex 3, delta 1 subunit|MOB1, Mps One Binder kinase activator-like
2A (yeast) |
AP3D1|MOBKL2A |
Intron |
19 |
2026666 |
0.46 |
0.49 |
0.49 |
0.36 |
hCV9611303 |
AAGCCAATGTTGCTTCTTGAAATTGGGGCCCACAATTGTG[A/T]CTCGGTGATGGGGACCAGCAGTGGAGTGGGTGCCCGTGAT |
T |
T |
C___2590042_1_ |
rs2072306 |
IMS-JST008251 |
adaptor-related
protein complex 3, delta 1 subunit|MOB1, Mps One Binder kinase activator-like
2A (yeast) |
AP3D1|MOBKL2A |
Intron |
19 |
2060019 |
0.32 |
0.42 |
0.34 |
0.38 |
hCV2590042 |
TTGCACGGGGCTTTCACGCACGCGGCAGCTGTCCCTTCCT[G/A]TTGGAGCCGGGCCTGTGGCCCTCCCACCCAAACTCACACC |
C |
C |
C___2590046_1_ |
rs2240655 |
|
adaptor-related
protein complex 3, delta 1 subunit|MOB1, Mps One Binder kinase activator-like
2A (yeast) |
AP3D1|MOBKL2A |
Intron |
19 |
2066790 |
|
|
0.28 |
0.27 |
hCV2590046 |
GGGTCACTCGTGTGACAAGCTTTCCAGTCCTCACTGTCTT[A/G]AAGAGTCGGGTCCTCGGGATGCGCTCGCTCACGGCGCTCC |
T |
T |
C___2590060_10 |
|
|
adaptor-related
protein complex 3, delta 1 subunit|MOB1, Mps One Binder kinase activator-like
2A (yeast) |
AP3D1|MOBKL2A |
Intron |
19 |
2084332 |
0.37 |
0.12 |
0.1 |
0.3 |
hCV2590060 |
TATTTCCCCAAGTGCTGACACAGGAGCTGGGGCAGATTCC[C/G]TGTTTTAGTGAGAGCTGCGGGAGTGAAGAGCTGGGGCAGA |
G |
G |
C___2590064_1_ |
rs2108825 |
IMS-JST019499 |
adaptor-related
protein complex 3, delta 1 subunit|MOB1, Mps One Binder kinase activator-like
2A (yeast) |
AP3D1|MOBKL2A |
Intron |
19 |
2087515 |
0.49 |
0.41 |
0.42 |
0.45 |
hCV2590064 |
AAATGGTCACGGAGGCCACTGGGTAGTAGTAAAGGTCCTT[G/A]TTGGCCCCGAGCTCTGAACACCTTTGGTTCCCGCCTCTCA |
C |
T |
C__11693967_10 |
|
|
adaptor-related
protein complex 3, delta 1 subunit|MOB1, Mps One Binder kinase activator-like
2A (yeast) |
AP3D1|MOBKL2A |
Silent
Mutation |
19 |
2089654 |
0.4 |
0.14 |
0.13 |
0.26 |
hCV11693967 |
GCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACAT[A/C]GCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAA |
G |
G |
C___2590072_1_ |
rs2238599 |
IMS-JST019501 |
adaptor-related
protein complex 3, delta 1 subunit|MOB1, Mps One Binder kinase activator-like
2A (yeast) |
AP3D1|MOBKL2A |
Intron |
19 |
2091009 |
0.5 |
0.41 |
0.41 |
0.45 |
hCV2590072 |
CGGGTGGCACTCTTTCCATTGTACAAAGTTGGATCATAAA[A/G]CATGGAGGAAAATATTATGTGTCTGTGCCCTCCCCCACCC |
T |
C |
C___2580861_1_ |
rs2238603 |
IMS-JST019505 |
adaptor-related
protein complex 3, delta 1 subunit|MOB1, Mps One Binder kinase activator-like
2A (yeast) |
AP3D1|MOBKL2A |
Intron |
19 |
2095471 |
0.39 |
0.14 |
0.12 |
0.31 |
hCV2580861 |
GGGCTGGCCGGGGTCTGGTCCTGGATGGGGCTGTTTCTGG[C/T]TTCTGCCCTGTTGCGTGTTAGTGTGCTGCACCAGCCTCAG |
G |
G |
C___9611288_10 |
rs960492 |
|
histone
methyltransferase DOT1L |
DOT1L |
Intron |
19 |
2116058 |
0.04 |
0.13 |
0.06 |
0.17 |
hCV9611288 |
CACGCCGGGACTCGCACCCCGGGAGCCGCACGCGGGTTTC[C/T]GGAACCACCCGGTGGGGTGCCTCTGTAACATTCCACCCGG |
G |
G |
C___2580891_10 |
|
|
histone
methyltransferase DOT1L |
DOT1L |
Intron |
19 |
2127586 |
0.46 |
0.37 |
0.38 |
0.49 |
hCV2580891 |
AAGCGCTTCTCACAGGCGCAGGCCTTACTGGAACAGAGAA[C/T]GTTCCTGGGAGCCAGATGACTCACAGGTGTGAGGGCTGGA |
G |
A |
C___2570480_10 |
|
|
histone
methyltransferase DOT1L |
DOT1L |
Intron |
19 |
2135166 |
0.49 |
0.35 |
0.38 |
0.47 |
hCV2570480 |
GCAACCCAAGCAAGGCCATCTGCAGTCACTTCTCATCACA[C/T]TGTCCAGGAGGTTCCGGCCAGCGCAACTCGGCAAGAAAAA |
A |
G |
C___2570502_1_ |
rs2269881 |
IMS-JST024213 |
histone
methyltransferase DOT1L |
DOT1L |
Intron |
19 |
2146799 |
|
|
0.43 |
0.48 |
hCV2570502 |
TTCTGTTGCTTCTGCAAACTTGCGGATTCCACCCAGGAAC[T/C]GGGTCGTCGCAGGCACCTGGGATCACGAGTTGGCCTTGCC |
G |
A |
C___2570506_1_ |
rs2240129 |
IMS-JST011578 |
histone
methyltransferase DOT1L |
DOT1L |
Intron |
19 |
2148734 |
0.46 |
0.25 |
0.41 |
0.49 |
hCV2570506 |
CCCACCACCAGGTTCTTTCTGACACGTGTTGCCAAAGCCA[C/T]GAAGAATGCCACGCTTTCCCCCAAATCATGCTCCCAGACA |
A |
G |
C___2570515_10 |
|
|
histone
methyltransferase DOT1L |
DOT1L |
Intron |
19 |
2158269 |
0.49 |
0.26 |
0.39 |
0.48 |
hCV2570515 |
CTGGAAGCGACTTAGATCACGGCTGCAAGAACGGCCAGCA[C/T]CCAGCAACACAGGCACCTCCCGGGTGGGCGCTCCTCAGGG |
G |
A |
C__11694035_1_ |
rs3746159 |
|
histone
methyltransferase DOT1L |
DOT1L |
Intron |
19 |
2161269 |
0.13 |
0.02 |
0.28 |
0.14 |
hCV11694035 |
GGGCCACGGGCCCAACTCTGTCCACTGCAAGTCCTCTGTG[G/A]CACAAATCAGGAAACTGAGGCCCAGAGACAGCAGTGGGCT |
T |
T |
C___2581200_1_ |
rs740404 |
IMS-JST036824 |
histone
methyltransferase DOT1L|splicing factor 3a, subunit 2, 66kDa|anti-Mullerian
hormone|pleckstrin homology domain containing, family J member 1|likely
ortholog of mouse guanine nucleotide releasing protein x |
DOT1L|SF3A2|AMH|PLEKHJ1|GNRPX |
|
19 |
2183049 |
0.17 |
0.05 |
0.26 |
0.14 |
hCV2581200 |
CAGATCCCCAGTCTCCACAGCCACCCTGCCACCCGCCACA[T/C]ACCACCCCTCAGTCTGGGAGTGTCTGAGAAGAACACAGGC |
A |
A |
C__16028320_10 |
rs2250625 |
|
ornithine
decarboxylase antizyme 1|FLJ45778 protein |
OAZ1|FLJ45778 |
|
19 |
2221099 |
0.31 |
0.27 |
0.36 |
0.35 |
hCV16028320 |
|
#N/A |
#N/A |
C__16028325_10 |
rs2523174 |
|
ornithine
decarboxylase antizyme 1|FLJ45778 protein |
OAZ1|FLJ45778 |
|
19 |
2222181 |
0.1 |
0.05 |
0.08 |
0.13 |
hCV16028325 |
GGCAGCTCCAACGCCTGCCCCAAGCACCTACAAGGGCAGC[A/G]GTCACTGAGCCCCGACTCCTCGGGCGGCGCCGCCCAGGAC |
T |
T |
C__25641594_10 |
|
|
ornithine
decarboxylase antizyme 1|FLJ45778 protein |
OAZ1|FLJ45778 |
Mis-sense
Mutation |
19 |
2231885 |
|
|
0.38 |
0.36 |
hCV25641594 |
CAGCCCGGAGCCCCCCACAGAGCCCCCCGAGCCCGACAAC[T/C]CCACCTGGTCGACTCAGCCCACGTATAGCAACCTTGGTAA |
A |
A |
C___2580898_10 |
|
|
|
|
|
19 |
2256765 |
0.23 |
0.42 |
0.4 |
0.34 |
hCV2580898 |
GAAGCTCAAACGGGGCATCCAGAGCACACTCCCCTTACTC[C/A]CACCGCCCTGGTTGTGGTGGGGGGCAGAGGGAGGGAGATG |
T |
T |
C___2580899_10 |
|
|
|
|
|
19 |
2258341 |
|
|
0.4 |
0.48 |
hCV2580899 |
GGCACAAGAAAAGCCCCGGGTCCTTACGCTGGAGACCACC[A/C]TGTAACTGGGTTTCTCAACGTGTGCTTGGGGCGCTAACGG |
T |
G |
C___2580908_10 |
rs730417 |
|
LSM7
homolog, U6 small nuclear RNA associated (S. cerevisiae) |
LSM7 |
|
19 |
2268666 |
0.27 |
0.33 |
0.28 |
0.23 |
hCV2580908 |
CCCCACTGCAGGTTCCGAAGGAGGACGGGAGCTGGATGTT[A/G]CTGATAGTCAGTCTGGGGCGTCTGCCCCAGACACTGACCC |
T |
T |
C__15878058_10 |
rs2270048 |
IMS-JST024428 |
LSM7
homolog, U6 small nuclear RNA associated (S. cerevisiae)|SPPL2b |
LSM7|SPPL2B |
Intron |
19 |
2277215 |
0.19 |
0.17 |
0.19 |
0.23 |
hCV15878058 |
AGGGTGTTTCTCTCTTGATTGGCTCAGTCAGCTGATTCAG[A/G]GGCTCTAATTACAGCTGCAAAGTTCCTTGTCTTTGCCACA |
#N/A |
#N/A |
C__11511783_10 |
|
|
LSM7
homolog, U6 small nuclear RNA associated (S. cerevisiae)|SPPL2b |
LSM7|SPPL2B |
Intron |
19 |
2286067 |
|
|
0.32 |
0.39 |
hCV11511783 |
TTAGTGCCCCAGTCAGGAAGACGGTGAAAGGAACAGGTCT[C/T]GTCCCTGGGGCCCCACTGTGCCCTCTGCTGTTACTCCTCT |
A |
A |
C___2592295_10 |
|
|
growth
arrest and DNA-damage-inducible, beta |
GADD45B |
|
19 |
2420404 |
0.33 |
0.06 |
0.38 |
0.41 |
hCV2592295 |
TGTGCACAGCAAGAGGCTGGCAGGTCTGGGACTATGCCTC[A/G]CAGAGAGAGGGAGAAGGAGAGGCTCTGTCTGAGGTCACGT |
T |
T |
C____334241_10 |
|
|
growth
arrest and DNA-damage-inducible, beta |
GADD45B |
|
19 |
2429344 |
0.31 |
0.49 |
0.14 |
0.15 |
hCV334241 |
CTGGAGCTGCTAACGGGCTTAAGTAACACTTCCTGGTGAG[C/G]TGGCGGGGGTTGTGGGGGGTGAAGCGTGTCCCCGGGGAGG |
C |
C |
C___9611166_10 |
rs1548709 |
|
growth
arrest and DNA-damage-inducible, beta |
GADD45B |
|
19 |
2431668 |
|
|
0.38 |
0.5 |
hCV9611166 |
AATCTAAAATTTTTAAATGAATGATCTTTTAAAAATTGGG[A/G]AAAAAAAACCATGATTCTGGAAGTACATTGAAGGAAGCCG |
C |
C |
C___2589247_1_ |
rs3752174 |
|
guanine
nucleotide binding protein (G protein), gamma 7|hypothetical protein FLJ00058 |
GNG7|FLJ00058 |
UTR
3UTR 3 |
19 |
2465565 |
0.33 |
0.08 |
0.36 |
0.38 |
hCV2589247 |
GAGAATTGGCCATTGGTAAAAAGACTTCATAGGGTCACTG[G/A]AATGCTTTGTGTTGTTTTTAAGTAGAGGTAAAATTGAGAT |
T |
T |
C___2273940_10 |
rs736306 |
|
guanine
nucleotide binding protein (G protein), gamma 7|hypothetical protein FLJ00058 |
GNG7|FLJ00058 |
IntronIntron |
19 |
2479823 |
0.14 |
0.06 |
0.18 |
0.1 |
hCV2273940 |
CCTGCCTGCCAGACTCTGGAACCCCTGTTTCCTCACACAG[T/G]AACCTGGGGGCCAGGCCTGGTGCAGAGATGAGAGTGTCCC |
A |
A |
C____453409_10 |
|
|
guanine
nucleotide binding protein (G protein), gamma 7|hypothetical protein FLJ00058 |
GNG7|FLJ00058 |
IntronIntron |
19 |
2490167 |
0.33 |
0.32 |
0.43 |
0.42 |
hCV453409 |
AAGATAATCTGCTTTGCAACGCAGTTTATAGTTCATTTGT[A/T]TACAGGAACATGCAATATATGAAAAATTACTAACTAAACT |
T |
T |
C___2654619_10 |
|
|
guanine
nucleotide binding protein (G protein), gamma 7|hypothetical protein FLJ00058 |
GNG7|FLJ00058 |
Intron |
19 |
2562354 |
0.23 |
0.16 |
0.37 |
0.48 |
hCV2654619 |
AGGCCGCCTGTCGGGCCATGACCAGCAGGTGGCAGCACAG[A/T]CCAGCTCCCGGGAGACCTGTCCTGGCTCCAGCTCCCAGCG |
T |
A |
C____155200_10 |
rs759065 |
|
guanine
nucleotide binding protein (G protein), gamma 7|hypothetical protein FLJ00058 |
GNG7|FLJ00058 |
Intron |
19 |
2597072 |
|
|
0.42 |
0.45 |
hCV155200 |
CTGGGTCTGTCGGCTGTTTGTATCCACCAAGTATGGGTAA[C/T]GGGGAGCAGGTGTGGGTAACAGCTGCTAGCTCCTGGCAGA |
G |
A |
C_____57704_10 |
|
|
guanine
nucleotide binding protein (G protein), gamma 7|hypothetical protein FLJ00058 |
GNG7|FLJ00058 |
Intron |
19 |
2630438 |
|
|
0.45 |
0.41 |
hCV57704 |
CTAGGGTCATTGAAAAGATTGGGATGGACTACGAGGCTGT[C/G]ACCTGGATGGGTGGTGGTCCTGGTTATCACTGTTATTGCT |
C |
C |
C___2663724_10 |
|
|
guanine
nucleotide binding protein (G protein), gamma 7|hypothetical protein FLJ00058 |
GNG7|FLJ00058 |
Intron |
19 |
2637645 |
0.4 |
0.33 |
0.48 |
0.41 |
hCV2663724 |
TTTCAGGGTGTTGGAAACTCGTCGTCTTCCCCATCTTGGC[C/G]GCAAACACTGAAGAGAGCTCAGGAGAGACATCTCCCTTCT |
C |
C |
C___2663742_1_ |
|
|
DIRAS
family, GTP-binding RAS-like 1 |
DIRAS1 |
UTR
3 |
19 |
2665771 |
0.36 |
0.1 |
0.43 |
0.4 |
hCV2663742 |
GCCCGACCCTGGGGAGAGAGGGCATCTGCAATAGGAGGGG[A/G]CCCGAGCCTGTCCTGGCTGCTGGCCCATCCTGCCTGGGCA |
T |
T |
C___2305543_10 |
rs759071 |
|
DIRAS
family, GTP-binding RAS-like 1|solute carrier family 39 (zinc transporter),
member 3 |
DIRAS1|SLC39A3 |
|
19 |
2679577 |
0.33 |
0.27 |
0.45 |
0.38 |
hCV2305543 |
TTTCATGCGCTGGTAGAGACCGGGAATAGCTTGGACAGAT[C/T]GTTCCTGGATAACACAAGACAGCTTCCTGTTTAAAAAACA |
A |
A |
C__11518109_10 |
|
|
small
glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha|small
glutamine-rich tetratricopeptide repeat (TPR)-containing |
SGTA|SGT |
|
19 |
2704270 |
0.23 |
0.4 |
0.37 |
0.35 |
hCV11518109 |
CCCAAAAATGACACACCAAAAAGTCACAAAATTCAAAGAA[C/A]AGCCACCCCAGGGTTGCTGGGTCTAGTGCTGAAGGGGCCT |
G |
G |
C___2663794_10 |
|
|
thimet
oligopeptidase 1|small glutamine-rich tetratricopeptide repeat
(TPR)-containing, alpha|small glutamine-rich tetratricopeptide repeat
(TPR)-containing |
THOP1|SGTA|SGT |
Intron |
19 |
2728662 |
0.21 |
0.17 |
0.48 |
0.5 |
hCV2663794 |
CTGCCTGGGGATCCTGACCTGATGCCGCCTGTTACAGAAT[C/T]ATTTCCAATGAAACCTCTGAAGAGATGTCGGCACCATTCT |
A |
A |
C___2991870_10 |
rs1640268 |
|
thimet
oligopeptidase 1|small glutamine-rich tetratricopeptide repeat
(TPR)-containing, alpha|small glutamine-rich tetratricopeptide repeat
(TPR)-containing |
THOP1|SGTA|SGT |
Intron |
19 |
2742469 |
0.28 |
0.33 |
0.42 |
0.39 |
hCV2991870 |
TGCGGAGCTTCAGCCCTCCCTCCAGCCCCTGGCCCAGACA[A/G]CAAACCCTCTGGAGGCCTCATGGCATGGGCCACGGAGGCC |
T |
T |
C___2991872_1_ |
rs1624295 |
IMS-JST019524 |
thimet
oligopeptidase 1|small glutamine-rich tetratricopeptide repeat
(TPR)-containing, alpha|small glutamine-rich tetratricopeptide repeat
(TPR)-containing |
THOP1|SGTA|SGT |
Intron |
19 |
2743034 |
0.28 |
0.43 |
0.44 |
0.39 |
hCV2991872 |
AGCTGGCATGGGGACAGGAGGAGGAGGAAGGGCTCCTGGG[C/T]GAAGTGGACTTAATCTGTGATCAGAGAGAAGCCAGGCATT |
G |
G |
C___2991873_1_ |
rs1625126 |
IMS-JST019527 |
thimet
oligopeptidase 1|small glutamine-rich tetratricopeptide repeat
(TPR)-containing, alpha|small glutamine-rich tetratricopeptide repeat
(TPR)-containing |
THOP1|SGTA|SGT |
Intron |
19 |
2743128 |
0.28 |
0.38 |
0.42 |
0.45 |
hCV2991873 |
AATCAGCTCTGTCCTCTCGGGATTTACGGGCGACCGATTA[C/G]ACAAGTGACCGCAGGGACGACAGTGTCAGTACCGTGCAGG |
G |
G |
C___2991882_10 |
rs1736182 |
|
thimet
oligopeptidase 1 |
THOP1 |
Intron |
19 |
2749686 |
0.28 |
0.29 |
0.41 |
0.34 |
hCV2991882 |
CTGTGCCCAGGACTTTGCAGGGAGCCTGTATCTTGTCAGG[C/A]AGGCCCTGGTTCAGAACCAGCTGAGGGTTTGCTGGGCCTC |
T |
T |
C___2991886_1_ |
rs1640273 |
IMS-JST033153 |
thimet
oligopeptidase 1 |
THOP1 |
Intron |
19 |
2754227 |
0.28 |
0.38 |
0.45 |
0.49 |
hCV2991886 |
GTGTGGTGCAGAGATGCGTGTCTGCTTCCTAACTGTTAAC[A/G]GTGCCCAGGAATGCTGCTCCCTGGCAGTGGTGAACACATC |
T |
T |
C___2991892_10 |
rs1640275 |
|
thimet
oligopeptidase 1|zinc finger protein 554|hypothetical protein FLJ34817 |
THOP1|ZNF554|FLJ34817 |
Intron |
19 |
2762293 |
0.36 |
0.24 |
0.41 |
0.35 |
hCV2991892 |
TTGAGACTGCGTCAATAAAGCAAGGCACGCCCACGCAACA[G/T]CACAGGCCACGCTGCTGAAAACGCTTTTGGAAAGATTTTT |
A |
A |
C___9617114_10 |
rs867169 |
|
zinc
finger protein 554|zinc finger protein 555|hypothetical protein
FLJ34817|hypothetical protein MGC26707 |
ZNF554|ZNF555|FLJ34817|MGC26707 |
Mis-sense
Mutation |
19 |
2784864 |
0.18 |
0.09 |
0.43 |
0.4 |
hCV9617114 |
TCCCCAAATCCATGCCATGCAGTAGCCTTCTCCTGAGGAA[C/T]GGCCACTACGTGAAGGGATGCCTTTTGGCTCAAAAGCCCC |
A |
A |
C___2991938_10 |
|
|
zinc
finger protein 555|hypothetical protein MGC26707 |
ZNF555|MGC26707 |
Intron |
19 |
2802678 |
0.43 |
0.37 |
0.31 |
0.42 |
hCV2991938 |
TTTTTAAAGTTTAATGACAGACTAAGATTCTCTCCTGAAA[T/A]ACTATGTTCTCTTGTGAGTGCAACTCACCTGAGATTTCTC |
T |
T |
C___2991942_10 |
|
|
zinc
finger protein 555|hypothetical protein MGC26707 |
ZNF555|MGC26707 |
|
19 |
2808149 |
0.31 |
0.45 |
0.33 |
0.41 |
hCV2991942 |
TTATGAAAACTTATGTTAACATGGAAAGTAATGGAGATTA[C/T]TGGATATTGTTTGCTCTTTAATAAAACTCTAAGGTGTTAC |
G |
G |
C___2991965_10 |
|
|
zinc
finger protein 556|hypothetical protein FLJ11637 |
ZNF556|FLJ11637 |
|
19 |
2831112 |
0.39 |
0.33 |
0.14 |
0.35 |
hCV2991965 |
ATTGTCTTTCATTTTCTCATGAAAGGTAAGATTTATCTCA[C/T]GAAGAATACTAGGTCACAGTAGATGCAGTAGGGAAACAAT |
G |
G |
C___2658964_10 |
|
|
hypothetical
protein LOC126295 |
LOC126295 |
Intron |
19 |
2856115 |
0.12 |
0.33 |
0.37 |
0.14 |
hCV2658964 |
GGATGGTATCGTCAGGATGGACAAATAGACCAACACAAAA[G/A]GATGGGAAGCTGTGTTTATGGTGCATGAATATATGACAGA |
C |
C |
C__11969158_1_ |
rs2043336 |
IMS-JST025736 |
hypothetical
protein LOC126295 |
LOC126295 |
Intron |
19 |
2866738 |
0.13 |
0.26 |
0.39 |
0.15 |
hCV11969158 |
TAGATTCTAGGTCCATGGTGGCTGTGAACATGTCTGTCTT[T/A]GTCCTTTCCCACATTTCACATCTTGCAACAGAACTGATGA |
T |
T |
C___7750218_1_ |
rs2288958 |
IMS-JST040355 |
hypothetical
protein LOC126295 |
LOC126295 |
Mis-sense
Mutation |
19 |
2868287 |
0.36 |
0.24 |
0.47 |
0.28 |
hCV7750218 |
GAACCCATTAAACGCCATCCGACACTGCTCGCATTTGTAG[G/T]TTTTCTCTGCTGTGTGAGTCTTTACGTGGTGGGAGAGGTA |
C |
C |
C___7750217_10 |
|
|
hypothetical
protein LOC126295 |
LOC126295 |
|
19 |
2870429 |
0.13 |
0.21 |
0.4 |
0.15 |
hCV7750217 |
GGCAGCTGGTGTCTGTTGTAGAGACACTCTTCATTAACAG[G/T]GGCAGGAATGAGTACAATGATCCAGAAGGCTGTGTGCATG |
A |
A |
C___2654762_10 |
rs2052120 |
|
hypothetical
protein MGC14966|transducin-like enhancer protein 6 |
MGC14966|FLJ14009 |
|
19 |
2927114 |
|
|
0.18 |
0.17 |
hCV2654762 |
GGTACTGGCATTAGCAGTTCACTCTGCCAGGGACAGTCTC[C/T]CTCAGACAGCCACCGGCTGGCTCCTTACTCCCTCAGCTCC |
A |
A |
C____569249_10 |
rs529807 |
|
hypothetical
protein MGC14966|transducin-like enhancer protein 6 |
MGC14966|FLJ14009 |
Intron |
19 |
2933834 |
0.24 |
0.12 |
0.35 |
0.4 |
hCV569249 |
CTGCCCCATCACAGGCTCTCTCTGTCCAAAGCAACTGACC[A/G]GCAAAGGGTCATCTAGGTTGCGCAGGGGCCCAGGGAGCGG |
C |
C |
C___2680342_1_ |
rs11150 |
IMS-JST059225 |
hypothetical
protein MGC14966|transducin-like enhancer of split 2 (E(sp1) homolog,
Drosophila)|amino-terminal enhancer of split|transducin-like enhancer protein
6 |
MGC14966|TLE2|AES|FLJ14009 |
Mis-sense
Mutation |
19 |
2948897 |
0.22 |
0.2 |
0.23 |
0.31 |
hCV2680342 |
CAGTCCTGAGTTGTGACATCTCCAGAAATAACAAATACAT[C/T]GTGACAGGCTCGGGGGACAAGAAGGCCACCGTGTATGAGG |
A |
A |
C____569223_10 |
rs216283 |
|
transducin-like
enhancer of split 2 (E(sp1) homolog, Drosophila)|amino-terminal enhancer of
split |
TLE2|AES |
Intron |
19 |
2958698 |
0.38 |
0.25 |
0.22 |
0.36 |
hCV569223 |
CCTAGGACAGACCCTCTAGCTGGTCTGGAACACTCAAGGT[G/T]TCTTTGTGGGTCCTCGGTTGAACGAACATTTATTAAGTGC |
A |
A |
C___2967754_1_ |
|
|
amino-terminal
enhancer of split|transducin-like enhancer of split 2 (E(sp1) homolog,
Drosophila) |
AES|TLE2 |
UTR
3 |
19 |
3004574 |
|
|
0.05 |
0.08 |
hCV2967754 |
TCCTCCCCTGCAGCCTGGTTAGGTGGATACCTGCCCTGAC[A/G]TGTGAGGCAAGCTAAGGCCTGGAGGGTCAGATGGGAGACC |
C |
C |
C___2967806_10 |
rs308058 |
|
guanine
nucleotide binding protein (G protein), alpha 11 (Gq class)|amino-terminal
enhancer of split|transducin-like enhancer of split 2 (E(sp1) homolog,
Drosophila) |
GNA11|AES|TLE2 |
Intron |
19 |
3058578 |
0.15 |
0.1 |
0.21 |
0.14 |
hCV2967806 |
GTGGCTTTCAGTGTGTGTGAGTGTTTGCTGTTTCCAGGTG[A/C]AACACCCTTCCAAACAAACACGGAGCAGCCATCTTTTGTA |
A |
A |
C___3149364_1_ |
rs308064 |
IMS-JST002034 |
guanine
nucleotide binding protein (G protein), alpha 11 (Gq class)|amino-terminal
enhancer of split|transducin-like enhancer of split 2 (E(sp1) homolog,
Drosophila) |
GNA11|AES|TLE2 |
Intron |
19 |
3064176 |
0.16 |
0.45 |
0.34 |
0.25 |
hCV3149364 |
GAGGAACCACACCGCCAGGCGGCCTCGCGTTTTTCTGACA[C/T]GTGTTCACACGGAACTGTCAGTGGTCCTGACTGCACAGCC |
C |
C |
C___3149380_10 |
rs397454 |
|
guanine
nucleotide binding protein (G protein), alpha 11 (Gq class)|amino-terminal
enhancer of split|transducin-like enhancer of split 2 (E(sp1) homolog,
Drosophila) |
GNA11|AES|TLE2 |
|
19 |
3074169 |
0.15 |
0.37 |
0.19 |
0.09 |
hCV3149380 |
GCCCTCTGGGGGGCCTGTGCTTGTGGCATCTCTGAGGGCC[C/T]AGATTGCACAAGGTGACCTGGCCGTGGCCTGAGGGTGGAG |
T |
T |
C___8354079_10 |
|
|
guanine
nucleotide binding protein (G protein), alpha 11 (Gq class)|amino-terminal
enhancer of split|transducin-like enhancer of split 2 (E(sp1) homolog,
Drosophila) |
GNA11|AES|TLE2 |
|
19 |
3076408 |
0.36 |
0.29 |
0.46 |
0.31 |
hCV8354079 |
AGCCTGTCCGTCAGGCCTTAAGGCCCCTTGCTGTGCCCGA[C/T]GCTGCCCCAGATACTACAGTGCAGCAGAGAAGGTGGCACT |
T |
T |
C__11516180_10 |
|
|
guanine
nucleotide binding protein (G protein), alpha 15 (Gq class) |
GNA15 |
|
19 |
3084853 |
0.24 |
0.39 |
0.14 |
0.07 |
hCV11516180 |
AACACTCTGGCTCTGAGTACCTAGGAAGCAGCAACGTTTC[T/C]ACCAAGCTGCCAGCCGCCAGCCCACCCCTAGGGCCCTGAA |
T |
T |
C___3149415_10 |
|
|
guanine
nucleotide binding protein (G protein), alpha 15 (Gq class) |
GNA15 |
Intron |
19 |
3102676 |
|
|
0.16 |
0.11 |
hCV3149415 |
TTTCGTAGGGCCTGGGAAGCAAAGGGAGGCTGGCTGCAAG[C/G]CTGGGCCTCAGGACTCCTTGCTCTGCAGCTACCTGTCCCA |
C |
C |
C____964140_1_ |
|
|
endothelial
differentiation, G-protein-coupled receptor 6|hypothetical protein from
EUROIMAGE 2021883 |
EDG6|LOC56926 |
|
19 |
3131803 |
0.43 |
0.09 |
0.2 |
0.27 |
hCV964140 |
AGCTGAAACGTCTCCACTGGAGTTTCACGGGGCAGGCAGT[C/T]GTCAGCCCCTGTGGCTGGCGGGGAGCGTGTACCATCAACC |
A |
A |
C____964151_10 |
rs566476 |
|
endothelial
differentiation, G-protein-coupled receptor 6|hypothetical protein from
EUROIMAGE 2021883 |
EDG6|LOC56926 |
Intron |
19 |
3138386 |
0.41 |
0.38 |
0.44 |
0.44 |
hCV964151 |
AAGAGAATCCGGGCTGGGAACTAAGGGGGCCAGGAGAACA[A/T]GCGGACGGGACTCCTTCACAGGGAAGGCCAGGCCTTGACT |
A |
T |
C____964153_10 |
rs573104 |
|
endothelial
differentiation, G-protein-coupled receptor 6|hypothetical protein from
EUROIMAGE 2021883 |
EDG6|LOC56926 |
Intron |
19 |
3139127 |
0.27 |
0.31 |
0.28 |
0.34 |
hCV964153 |
GGACCAGGCAGGAGATGCCAAGAGTGTGAACAGGGTATCT[C/T]GAGCTCTAGGAGTGGGGTCTTTGGGGTGCAGACTGCCCTG |
A |
A |
C__11516028_1_ |
rs2288949 |
IMS-JST040346 |
hypothetical
protein from EUROIMAGE 2021883 |
LOC56926 |
Mis-sense
Mutation |
19 |
3158646 |
0.06 |
0.18 |
0.49 |
0.36 |
hCV11516028 |
TCACTGTGTCTTGGCCTTCACGAGCAGCCTCTGGACGGTC[C/T]TGTAGAGGAGGCTGAAGTGCTGGGGACACAGCAGGAGGGA |
G |
G |
C___3149448_1_ |
|
|
hypothetical
protein from EUROIMAGE 2021883 |
LOC56926 |
UTR
3 |
19 |
3160483 |
0.4 |
0.27 |
0.12 |
0.1 |
hCV3149448 |
CACCAGCCTGAGCCCCAGACGGTCAGTCAGTGCATCCATC[A/C]TGACGACCTGTCCAGGAAGGAAGGAAGGAAGCTCCCTCCA |
T |
T |
C___3149464_10 |
rs454836 |
|
bruno-like
5, RNA binding protein (Drosophila) |
BRUNOL5 |
|
19 |
3171698 |
0.23 |
0.41 |
0.44 |
0.45 |
hCV3149464 |
TTCGTCTCCATGGAGACTCAAGCAGGATGCTCAGAGCCCC[G/A]TGAGCCTCTGGTGTTCTGGGAGAGTCCTTAATAAGAATTT |
T |
C |
C____964206_10 |
rs312065 |
|
bruno-like
5, RNA binding protein (Drosophila) |
BRUNOL5 |
Intron |
19 |
3180745 |
0.09 |
0.24 |
0.38 |
0.45 |
hCV964206 |
TCAGTGCATCCTCCTCACGCTTCGGGCCTCAGCGTAGTCA[T/G]GTAACAAGCCCGCTCCCACTGACCAAGCACATACTCTGTG |
C |
C |
C___3149516_1_ |
rs2278292 |
|
bruno-like
5, RNA binding protein (Drosophila) |
BRUNOL5 |
Intron |
19 |
3245320 |
0.37 |
0.44 |
0.16 |
0.13 |
hCV3149516 |
CGGCTGCGAAAAGATGCCCCACTCTGTTCCCTAGGTGGAC[T/C]GTTTCCGCCGTCTCTGGGGAGATGACTTTCTTGAACCCAT |
A |
A |
C___2589385_10 |
rs3810420 |
|
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
|
19 |
3316583 |
0.24 |
0.05 |
0.42 |
0.34 |
hCV2589385 |
TGCCCTGTTACGTCTAGAAGGAGAACAGAATGTGGGCTCC[G/A]GGTCCAGATGGCCTGGCTCCAAGCCACACTTGCCATACCT |
A |
A |
C__11512228_10 |
rs4806923 |
|
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
Intron |
19 |
3329495 |
|
|
0.27 |
0.16 |
hCV11512228 |
GCCTCCCCACACCCAGACAGGGAGCTGGGGGCCTCCCACT[A/G]CCCCACATTTCTCTTCAAGGGGCTGCTGTTATTTTCGTGG |
A |
A |
C__11512249_10 |
|
|
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
Intron |
19 |
3347592 |
0.11 |
0.07 |
0.33 |
0.39 |
hCV11512249 |
GCCTGTCTACCACCAGGCGTCCCTTCTGGTGAACAGAGCT[G/A]TGTGAGAACTTCCAACAGGGACACCACGGCCGCTCGTAGC |
G |
G |
C___2596274_10 |
|
|
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
Intron |
19 |
3356515 |
0.24 |
0.47 |
0.33 |
0.43 |
hCV2596274 |
AGCACTGGCAAAACTGACAGCTGCTTCCCTCCTTAGAGCA[C/T]CTTGGGGAGGAGGAAGTTCTCTATGGAGGATCAGGGTCCG |
C |
C |
C___2596283_10 |
|
|
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
Intron |
19 |
3361815 |
|
|
0.01 |
0.1 |
hCV2596283 |
GAACGGGAAGGTAAGGCAGCGATTGGAAACGCCCGCGTTA[C/T]AGATGAGCGGAGAGCCGCTGGAGGTTGGAGGCTCCGACAG |
T |
T |
C__11966939_10 |
rs2024162 |
|
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
Intron |
19 |
3366706 |
0.07 |
0.06 |
0.01 |
0.08 |
hCV11966939 |
ATTACAGGGGTTTGGAGCCGAGGAAGCCCTGCTGCCTTTT[A/C]GTAAATGCTCTCCCTAGACAGCAATCTTTGATGGAGGCTC |
C |
C |
C___2596301_10 |
|
|
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
Intron |
19 |
3380937 |
0.13 |
0.02 |
0.37 |
0.4 |
hCV2596301 |
GAAGCCAACAGTCACGGGGCGGTTGCCAGGCGCTGTTCTC[A/G]GAGCTTTGCAGATTTTAACAAGTTCCTTCCTCTTATCCAG |
G |
A |
C___2596308_1_ |
rs2302220 |
IMS-JST058523 |
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
Intron |
19 |
3385413 |
0.19 |
0.15 |
0.24 |
0.45 |
hCV2596308 |
ACGCTGCCCAGCACCTCCTCCAGTGGGTAAGTACCCAGGT[C/G]CCCACCTCTGGGCATTTCATGACCCCATTCATCAACCCAT |
C |
C |
C___7744448_10 |
|
|
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
Intron |
19 |
3394470 |
0.28 |
0.42 |
0.25 |
0.43 |
hCV7744448 |
AAAAGAAAAAGAAAAAAGTCTGCCCCCTGCTCACAACGGA[A/T]TAAACTCCTAGTGTGGCAGACGGTGTGTAAACCAGGGGGA |
A |
A |
C__25603775_10 |
|
|
nuclear
factor I/C (CCAAT-binding transcription factor) |
NFIC |
Intron |
19 |
3403683 |
0.27 |
0.32 |
0.34 |
0.45 |
hCV25603775 |
AGCCAGCCAGCAACCTGGACCGGTGAGTTGGGCGGGGCGC[G/A]TTCGGGCCTCTCCTGGCGGCTCCAGGTGACCTCCCGGGGG |
G |
A |
C__25472405_10 |
|
|
hypothetical
protein MGC4293 |
MGC4293 |
Intron |
19 |
3443243 |
0.01 |
0.09 |
0.14 |
0.15 |
hCV25472405 |
CACTGAACCTCACAGCGAGGCACTGCCCAGGACCCCACCC[C/T]AGAAGCCCCTCCTCACCCTCGGCCAGCGCCAGGGCGGCCT |
T |
T |
C____435917_10 |
|
|
hypothetical
protein MGC4293 |
MGC4293 |
Intron |
19 |
3445313 |
|
|
0.01 |
0.09 |
hCV435917 |
AATCAGCATCCCCTCCCCAGAGCAAGGCACTGCCTGGAAC[C/T]GCACCTGGCTGCCGCTCAGAGCAAAATGGACCCCATCCCG |
T |
T |
C__11698728_10 |
|
|
Fzr1
protein |
FZR1 |
|
19 |
3462946 |
0.44 |
0.17 |
0.1 |
0.13 |
hCV11698728 |
CAGGTGGGGGTTGCTCCCTGCAGAGATCTCTGTGCCTCAG[C/T]GGTCTCTCCGCTAGGCCCCGGCTCTGGTTCTGGTCCAGAG |
T |
T |
C___2596853_10 |
|
|
Fzr1
protein|hypothetical protein MGC20700 |
FZR1|MGC20700 |
Intron |
19 |
3484803 |
0.26 |
0.04 |
0.1 |
0.15 |
hCV2596853 |
GGCCAGGAGGCGTCCTTGGCCCCACGTGCCCTCACTTGCC[A/C]AGATTTTGTTTCTTCCCTGAAAAACATGTTCTGTGCTTTC |
A |
A |
C___2576290_10 |
|
|
PDZ
domain protein GIPC3|thromboxane A2 receptor |
GIPC3|TBXA2R |
Intron |
19 |
3540339 |
0.17 |
0.13 |
0.44 |
0.41 |
hCV2576290 |
TCTGGAGACTTGCCGTACAGATGTAAGGAGGACTTTGAAG[G/A]GGAGGAAGATTCTAGAAAGGCTCGGCTGTTGGCCTCCCAG |
A |
A |
C___2576299_10 |
rs4523 |
|
PDZ
domain protein GIPC3|thromboxane A2 receptor |
GIPC3|TBXA2R |
Nonsense
Mutation |
19 |
3546794 |
0.38 |
0.18 |
0.2 |
0.2 |
hCV2576299 |
GAGGCTGGAGACGCCGGAGCACGGCGCGGCGGAACAGGAT[A/G]TACACCCAGGGGTCCAGGATCTGGTTCCAGGTGGCCACGC |
G |
G |
C___2576300_10 |
|
|
PDZ
domain protein GIPC3|thromboxane A2 receptor |
GIPC3|TBXA2R |
Silent
Mutation |
19 |
3546923 |
0.14 |
0.05 |
0.43 |
0.43 |
hCV2576300 |
CGGGGCTCATGGCAGGCGGGTTTCGCAGCACTGTCTGGGC[A/G]ATGAAGACCTGCAAAGGGGAGAGCTGTCAGCCTGGGCCCC |
G |
G |
C__11698607_1_ |
rs2238634 |
IMS-JST019556 |
thromboxane
A2 receptor |
TBXA2R |
Intron |
19 |
3555729 |
0.25 |
0.11 |
0.24 |
0.31 |
hCV11698607 |
CAATGGGGGTGAGCTTCTGATCTCCATGCCTGCGGGTGCT[A/C]AGCTCAGGCCTCCCTGGCTCTCACCTCTGCAGGGCTCCTG |
A |
A |
C___2576338_10 |
rs768963 |
|
thromboxane
A2 receptor |
TBXA2R |
|
19 |
3566407 |
0.48 |
0.29 |
0.28 |
0.27 |
hCV2576338 |
AGGCCACTTCCACCCACCCCGCTGGGTCTGGCCTCACCTC[A/G]CAACCCTGCCCCTTGCTGCCCATGCCGAACCCCTGCCACC |
A |
A |
C___2589825_1_ |
rs2271875 |
|
phosphatidylinositol-4-phosphate
5-kinase, type I, gamma |
PIP5K1C |
|
19 |
3577922 |
|
|
0.38 |
0.49 |
hCV2589825 |
CCCGTCGCCCCAGCCCGCAAGGACTCCGACACCCCAGACT[T/C]TCCACTACGTCTGCAAATGTGGACCGCGTGATTGACTCCA |
T |
T |
C___2589833_10 |
|
|
phosphatidylinositol-4-phosphate
5-kinase, type I, gamma |
PIP5K1C |
UTR
3 |
19 |
3583693 |
0.2 |
0.02 |
0.04 |
0.17 |
hCV2589833 |
GGTCCGCTTCCCACGTGGATGGAGGCAGAGTTGCTCGGGA[C/T]CCCAGCCGTCCCCTCTGCAGGCCGATGGGGCCCCCGGGGC |
T |
T |
C___2589847_10 |
|
|
phosphatidylinositol-4-phosphate
5-kinase, type I, gamma |
PIP5K1C |
Intron |
19 |
3598440 |
0.24 |
0.07 |
0.03 |
0.17 |
hCV2589847 |
CCGGAGTGGCAGCTGACATCAGCCAAGCCCATGCCAGGCC[G/A]CCTCACTCAGGGGCCACTGTGCACCCCCCAGGACACTGGG |
A |
A |
C___2569296_10 |
rs757454 |
|
phosphatidylinositol-4-phosphate
5-kinase, type I, gamma |
PIP5K1C |
Intron |
19 |
3611619 |
0.45 |
0.44 |
0.33 |
0.36 |
hCV2569296 |
ACCCACGTCCCAGTGCCTTGTTCTAACCCTTAAGTCTGAA[G/A]ATGGGTCAGTCACTTTGGCACCAGGCTGCAGAAGACTATA |
A |
A |
C___2266927_10 |
rs740873 |
|
phosphatidylinositol-4-phosphate
5-kinase, type I, gamma |
PIP5K1C |
Intron |
19 |
3649333 |
0.07 |
0.18 |
0.2 |
0.22 |
hCV2266927 |
CCCACTTCACAGACGGGACGCTGAAGCCCGGGGAAGTGAC[G/A]GCCACACAGCACCTGAAGCGCGGAGCTGGGAGGGGGACAT |
A |
A |
C__11458909_1_ |
rs1879041 |
IMS-JST002303 |
tight
junction protein 3 (zona occludens 3) |
TJP3 |
Intron |
19 |
3683219 |
0.31 |
0.48 |
0.38 |
0.22 |
hCV11458909 |
CAGATGGCCAGGCATAAAACCCCCTTTTTCCCCAGCTACT[A/G]CTAATCCACAGCCAAATGTCGGTTTCTAGTATCCCCATGG |
A |
A |
C__15757441_10 |
rs2302304 |
|
tight
junction protein 3 (zona occludens 3) |
TJP3 |
Intron |
19 |
3684651 |
0.07 |
0.03 |
0.13 |
0.12 |
hCV15757441 |
|
#N/A |
#N/A |
C___2600829_10 |
rs475112 |
|
amyloid
beta (A4) precursor protein-binding, family A, member 3 (X11-like 2)|tight
junction protein 3 (zona occludens 3) |
APBA3|TJP3 |
Intron |
19 |
3696546 |
|
|
0.44 |
0.33 |
hCV2600829 |
CTGAGAGGAGCACTGCTTCCTCCAGGAAGCCCTCCTGGAT[C/T]GTGCAAAGTTTCAGGAAGGAGACATAGCCTGGCATGGAGG |
G |
G |
C__25471826_10 |
|
|
amyloid
beta (A4) precursor protein-binding, family A, member 3 (X11-like 2)|tight
junction protein 3 (zona occludens 3) |
APBA3|TJP3 |
Intron |
19 |
3700971 |
0.45 |
0.22 |
0.34 |
0.23 |
hCV25471826 |
GACAAGTCTGCAGGTCATCCCCAAATCTAAATGAGAAAAC[C/T]GAGGCTGGGATAGGGGAAGGCCTTAGCTGAGACCTCCTAG |
A |
A |
C__11512276_1_ |
rs3746120 |
|
amyloid
beta (A4) precursor protein-binding, family A, member 3 (X11-like
2)|mitochondrial ribosomal protein L54|tight junction protein 3 (zona
occludens 3) |
APBA3|MRPL54|TJP3 |
Silent
Mutation |
19 |
3704769 |
0.43 |
0.2 |
0.47 |
0.41 |
hCV11512276 |
GCCGCCGCCTCTACAAGATGCTCTGCCACGTATTCTACGC[G/A]GAGGACGTGAGCAGCCAGGGCGCGGGGCCACCCTCCTGAG |
C |
C |
C__11512365_10 |
|
|
megakaryocyte-associated
tyrosine kinase |
MATK |
Intron |
19 |
3733296 |
0.22 |
0.12 |
0.09 |
0.14 |
hCV11512365 |
GCCAATGATCTCTTAAGACCGTGGCATTTGGAGGGGGCAC[G/T]TTCTGGAGGGAGAAGAGAACGTCTGCAGAACCGACCAGAG |
C |
C |
C___2596250_10 |
|
|
megakaryocyte-associated
tyrosine kinase |
MATK |
Intron |
19 |
3742227 |
0.32 |
0.36 |
0.42 |
0.41 |
hCV2596250 |
AATGGAAGGCAGGTTTATGGACTCTCGGAAAGAGAAGCTC[G/A]AGGCATCCCTCTTCCCAGCTGGGATCAGGGAATCTAATTT |
T |
T |
C___2568494_10 |
|
|
|
|
|
19 |
3759563 |
|
|
0.03 |
0.1 |
hCV2568494 |
CTGGTGGCCACGCCCACCGGCGGCGGCACAGAGCCACCCC[G/A]GCACAGAGCCACTCTGGCACAAATCCACCCCGGTGCCTGT |
T |
T |
C___2568496_10 |
|
|
|
|
|
19 |
3760493 |
0.11 |
0.1 |
0.03 |
0.1 |
hCV2568496 |
TTTTCCTGCTGTGACTGTAGAGGCACCCACACAGTGCTGT[A/G]GGAGGCCAGCAATGCCCCTGTCCCCTCGTGCCCTCGGGAA |
T |
T |
C____349287_1_ |
rs2301841 |
IMS-JST058035 |
|
|
|
19 |
3770403 |
0.44 |
0.38 |
0.31 |
0.12 |
hCV349287 |
GACCCGAGCTTCCTGCAGCCATCGGGGCAGCCCGAGGTAC[C/T]TCCCTGTTCCCCACCCCGGGGCTCTCTGTGTGCACTGGAT |
A |
A |
C___2568511_1_ |
rs2301843 |
IMS-JST058037 |
|
|
|
19 |
3771191 |
|
|
0.5 |
0.48 |
hCV2568511 |
CCAGCCTCTGCTCATGGGCAGGCCGGAGTCACCCGCCAGC[G/A]CCCCACTCCAGGTAGGTACAGTTTCCTCTGTGTGCAAACG |
C |
C |
C___2568520_1_ |
rs2269909 |
IMS-JST024251 |
|
|
|
19 |
3776826 |
|
|
0.49 |
0.49 |
hCV2568520 |
AGAATACGGACGTGACCATGTGCACACGTGCGTGCAGAAC[A/G]TGGGTGTCCGTCCAGGGACACGTGCACACCCACCATCCAT |
T |
C |
C___2568528_1_ |
rs2240235 |
IMS-JST011724 |
|
|
|
19 |
3782765 |
|
|
0.48 |
0.47 |
hCV2568528 |
CCCATAGTGGAGTCCGGACAGCCAGCGAGCACCTTGTCCT[T/C]GGGATACACCTACCCCACGGCGACAGGCGTCCAGCCCGAG |
G |
G |
C____485938_10 |
rs4807518 |
|
|
|
|
19 |
3800321 |
0.1 |
0.04 |
0.15 |
0.31 |
hCV485938 |
GTTCACCAACCAGCCGCCTCCACTGTCCTCTTAGGTGGGG[G/T]GTCCACCAGGTGGAGACAAAGCTGTGTGCGGAGGCACAGC |
C |
C |
C__11512418_10 |
|
|
|
|
|
19 |
3801015 |
0.1 |
0.08 |
0.16 |
0.31 |
hCV11512418 |
GGACAGGGTGGGGACCTGCGGCGAGGTCAAGGGTATCTTG[C/G]CTGATGTCACCCTGACCCTGTATCCCTCACAGGTCCTCAG |
C |
C |
C___7738046_10 |
|
|
ataxia,
cerebellar, Cayman type (caytaxin)|KIAA1872 protein |
ATCAY|KIAA1872 |
Intron |
19 |
3841641 |
0.26 |
0.18 |
0.11 |
0.17 |
hCV7738046 |
CTCCCGCTGGCCTCGCGCCTTCCAGAAAGGGCCTCCAGCT[C/T]GCATTTGCAGGTGCGCTCGGCCTTGGTTTTTGTCTCAAGA |
A |
A |
C___2142444_1_ |
rs2289865 |
IMS-JST041607 |
protein
inhibitor of activated STAT protein PIASy |
PIASY |
Mis-sense
Mutation |
19 |
3964322 |
0.32 |
0.37 |
0.07 |
0.15 |
hCV2142444 |
AAGTCCGCCTGGTGAAGCTGCCGTTCTTTAATATGCTGGA[C/T]GAGCTGCTGAAGCCCACCGAATTAGGTGAGTGGTCACCCT |
C |
C |
C___2142426_10 |
rs2379623 |
|
protein
inhibitor of activated STAT protein PIASy |
PIASY |
Intron |
19 |
3982810 |
0.3 |
0.24 |
0.1 |
0.17 |
hCV2142426 |
CTAGGAAGTCCTCACCTTTGCCTCACTTGAACCCTTCCTG[C/T]TGCGCACGTCTCTCCATACACAAAGGAGGGAGAGTTTGCT |
C |
C |
C__22274827_10 |
rs2305106 |
|
protein
inhibitor of activated STAT protein PIASy|zinc finger and BTB domain
containing 7|HIV-1 inducer of short transcripts binding protein |
PIASY|ZBTB7|FBI1 |
Intron |
19 |
3988525 |
|
|
0.22 |
0.19 |
hCV22274827 |
|
#N/A |
#N/A |
C__16103818_20 |
rs2121136 |
|
protein
inhibitor of activated STAT protein PIASy|zinc finger and BTB domain
containing 7|HIV-1 inducer of short transcripts binding protein |
PIASY|ZBTB7|FBI1 |
|
19 |
3994024 |
|
|
0.11 |
0.01 |
hCV16103818 |
AAGCCAGGCCCATCTCTCTGGGGTCCGTCTGTCGCGTGGC[A/G]GAGAGGCTGGGTGTGGATGGTGACCCAGAGCACCGGGGTG |
T |
T |
C___2142415_10 |
rs350916 |
|
mitogen-activated
protein kinase kinase 2 |
MAP2K2 |
Intron |
19 |
4045775 |
0.45 |
0.3 |
0.33 |
0.37 |
hCV2142415 |
CCCCGGGCCTGGGGTTTTATTAGACAGTTAGCTGGGGTTG[C/T]GTCCAGGCTTCTGACCCACCAGGCGGGGTTTCCCACCCTC |
G |
G |
C__11514739_10 |
|
|
mitogen-activated
protein kinase kinase 2 |
MAP2K2 |
Intron |
19 |
4054908 |
0.26 |
0.08 |
0.2 |
0.31 |
hCV11514739 |
AAGGTAGATTGATAAAAACTGAGAATAGAAGCAGCTTCCA[T/C]CTGGCCCTGGCTCACTGGAGCTCCCGTCCTGGCACCTCCT |
A |
A |
C__25602230_10 |
|
|
sirtuin
(silent mating type information regulation 2 homolog) 6 (S. cerevisiae)|cAMP
responsive element binding protein 3-like 3|CREB/ATF family transcription
factor |
SIRT6|CREB3L3|CREB-H |
Intron |
19 |
4126785 |
0.03 |
0.17 |
0.23 |
0.19 |
hCV25602230 |
ACCCATGCCCTGGGCTCCAGGGGAGGCTGCGAGGCCCCTG[C/A]GGACTCTCCTCAGCTTCCTCATTGCAGGGGAGAGCTGAGG |
G |
G |
C___2666127_10 |
rs352500 |
|
sirtuin
(silent mating type information regulation 2 homolog) 6 (S. cerevisiae) |
SIRT6 |
|
19 |
4141870 |
0.5 |
0.4 |
0.24 |
0.27 |
hCV2666127 |
TTAAATATTAAATATAACTATGCTTTGGAAATTAAGCAAT[C/T]ATATGGCTTGGTTTACCAGTGGCTACTACTTCTGAGGAAT |
A |
A |
C___2884235_10 |
|
|
hypothetical
protein FLJ10374 |
FLJ10374 |
Mis-sense
Mutation |
19 |
4205375 |
0.3 |
0.4 |
0.48 |
0.35 |
hCV2884235 |
TCTCAGCCTGGAAATTCCGCGTGGCTCCATGCTCCATGGT[G/A]TAGTCTGTGTTTTCAGGGTCTGTCTGCAGGGAGGATAGAC |
C |
T |
C___2884262_10 |
|
|
hypothetical
protein FLJ10374 |
FLJ10374 |
Intron |
19 |
4219543 |
0.36 |
0.21 |
0.48 |
0.44 |
hCV2884262 |
CTCCTGGTGGGAGAGCGAGAGTTAGCTCATCTCAGCTCCA[C/G]AGCAGACAGGCCAGGGACAAGGCACGGGGCCGGCCACCTC |
G |
C |
C___2884301_10 |
|
|
fibronectin
type 3 and SPRY (spla, ryanodine) domain containing (with coiled-coil motif)
1|hypothetical protein MGC23244 |
FSD1|MGC23244 |
|
19 |
4254863 |
0.17 |
0.19 |
0.3 |
0.22 |
hCV2884301 |
GAGACATTGAGGTCTGTGGGTTCGCCACCTCCTCCCAGAA[G/T]GCACTACAGAATCAGGGGTGAGGGATGCAGGGCTGGGAGG |
C |
C |
C___2884303_10 |
|
|
fibronectin
type 3 and SPRY (spla, ryanodine) domain containing (with coiled-coil motif)
1|hypothetical protein MGC23244 |
FSD1|MGC23244 |
|
19 |
4255498 |
0.44 |
0.49 |
0.46 |
0.45 |
hCV2884303 |
GAGCCCTCACATCCAGCGCCTGGGGCTCACTGGGCGGTGT[C/T]GGTGGTGATATGTGAGCTGGAGAGAGCCTTGGATGAGAAG |
G |
G |
C___2670018_10 |
rs3810367 |
|
hypothetical
protein FLJ14981|signal-transducing adaptor protein-2 |
FLJ14981|STAP2 |
|
19 |
4293847 |
0.42 |
0.33 |
0.32 |
0.48 |
hCV2670018 |
GCAGACGTCCATGTAAACCAATCAGTAGAAACCCTTAGTT[A/C]TGAGCGCAAACCATCAGAGGCAGGGACTGGACTCACCAGC |
T |
G |
C__11967546_10 |
rs2041774 |
|
SH3-domain
GRB2-like 1|hypothetical protein FLJ14981 |
SH3GL1|FLJ14981 |
Intron |
19 |
4306203 |
0.33 |
0.34 |
0.21 |
0.29 |
hCV11967546 |
CTGGGCAGTCGCCAGGACAGCTATGTCCCTTCCCAACCCT[T/C]CCCAGAATGCCACCTCCCAGGTAGCCCCTCACCTCCTCTT |
G |
G |
C___2307645_10 |
rs243260 |
|
SH3-domain
GRB2-like 1|hypothetical protein FLJ14981 |
SH3GL1|FLJ14981 |
Intron |
19 |
4314170 |
0.3 |
0.22 |
0.24 |
0.35 |
hCV2307645 |
GTCAGAGGAGCTGGGGCTCTGAGAACTCTGAGTCAACACC[C/A]AGCCCTGCCCCGATGCAGGCCCCGGGGACTCCCTCCCTGG |
G |
G |
C__25762282_10 |
|
|
SH3-domain
GRB2-like 1|hypothetical protein FLJ14981 |
SH3GL1|FLJ14981 |
Intron |
19 |
4314289 |
|
|
0.17 |
0.09 |
hCV25762282 |
GCCATGCGCCCTCTGCCAGCGCAAGTGGGCAGCACACCTC[A/G]CTGTGGGGTGAGCACATGGCAGAGCAGCATCCTGGATTCT |
T |
T |
C___2358585_10 |
rs243403 |
|
SH3-domain
GRB2-like 1 |
SH3GL1 |
Intron |
19 |
4329358 |
|
|
0.08 |
0.01 |
hCV2358585 |
GCCTGAGATGGTTGAGAAAACCGAGGCTCAGAGGGGTTTG[C/T]GTTCCTGCTCAGAGTCACAGCCCCGAACGGCAGAGCTGGA |
A |
A |
C___2358586_10 |
rs243404 |
|
SH3-domain
GRB2-like 1 |
SH3GL1 |
Intron |
19 |
4335674 |
0.3 |
0.18 |
0.39 |
0.4 |
hCV2358586 |
AGTGTGTCTATCCGTTCTCCAGCCAGTGGACATTTAGAGT[C/T]TCCAAGTTTCTGCATTTTCACACAGCCTGGCAGTGAGCGG |
G |
G |
C__11513123_10 |
|
|
SH3-domain
GRB2-like 1 |
SH3GL1 |
Intron |
19 |
4337352 |
0.36 |
0.14 |
0.06 |
0.05 |
hCV11513123 |
AACTGCTGACTGATTATTTTTCTGCTGTCATTTCGGGACT[T/C]TGCCCCAGCACTAAGCAGAGACCCTTATTCTCAGGAAGCC |
G |
G |
C__15873379_10 |
rs2247205 |
|
SH3-domain
GRB2-like 1 |
SH3GL1 |
Intron |
19 |
4342485 |
|
|
0.27 |
0.3 |
hCV15873379 |
|
#N/A |
#N/A |
C___2781697_1_ |
rs73234 |
|
SH3-domain
GRB2-like 1|chromatin assembly factor 1, subunit A (p150) |
SH3GL1|CHAF1A |
Intron |
19 |
4345310 |
|
|
0.34 |
0.34 |
hCV2781697 |
CGCAGCTAGAACTGGGGGACTAAGGAGGGTGAAAGAATGC[C/G]GCTAGCGAGAGCTGCTCTCAGAAGTTCCCTTGGTGTGCTG |
G |
G |
C___2358604_10 |
rs243341 |
|
SH3-domain
GRB2-like 1|chromatin assembly factor 1, subunit A (p150) |
SH3GL1|CHAF1A |
Intron |
19 |
4356106 |
0.3 |
0.4 |
0.39 |
0.38 |
hCV2358604 |
AAGCCAACTAAGAGAGTAACCGGAACTGTTTCATGAAATG[A/G]AAGTGGAATGAGTAAAAGTAGGGAGGAGAGAAAACATCAG |
T |
T |
C___2358620_1_ |
rs105037 |
IMS-JST021533 |
chromatin
assembly factor 1, subunit A (p150) |
CHAF1A |
Intron |
19 |
4365594 |
0.28 |
0.41 |
0.39 |
0.38 |
hCV2358620 |
CCATCTTTCCATCCCAATATAAAAAACATCTAAGACACCC[T/C]TGAGTAACAAAGACAGATATTTACAGTATATGTCATACAC |
A |
A |
C___2358621_1_ |
rs105038 |
|
chromatin
assembly factor 1, subunit A (p150) |
CHAF1A |
Intron |
19 |
4365710 |
|
|
0.39 |
0.38 |
hCV2358621 |
CAAGGGAACAATCATTTTGTGAAAGCCAAGCACAGAAACA[A/G]CAGAACTGAGAAAACAGCTCTGTAACCTACAGCATGTCCA |
C |
C |
C___8352967_10 |
rs243359 |
|
chromatin
assembly factor 1, subunit A (p150) |
CHAF1A |
Intron |
19 |
4367411 |
|
|
0.39 |
0.4 |
hCV8352967 |
GTGACTCACCATCCACCTAAATGGTCCCAGGAAGGAAGAC[A/G]AACAGGGAGTCTGGACTTTGGCCTAAGCTATCTCCCACCG |
C |
C |
C___2781716_1_ |
rs243365 |
|
chromatin
assembly factor 1, subunit A (p150) |
CHAF1A |
Intron |
19 |
4375296 |
|
|
0.39 |
0.4 |
hCV2781716 |
TGGAGATGGGCTCCCTCTGGGTAAAGGGGAAGGAGGGCTG[C/T]GGTTTCCATGCACAGATGGTGGCTCAGAAGGTCTGAGATG |
A |
A |
C___2358634_1_ |
rs243375 |
IMS-JST021524 |
UBX
domain containing 1|chromatin assembly factor 1, subunit A (p150) |
UBXD1|CHAF1A |
Intron |
19 |
4388089 |
0.34 |
0.24 |
0.34 |
0.36 |
hCV2358634 |
GCTGCACTGCTGAGCCCCAGGAGGCCCTCACCTGTGCCAC[A/G]CAGCAGAGGCCACCAATCACGCGCATGTGGCCACCACTGC |
C |
C |
C__11513093_10 |
|
|
UBX
domain containing 1 |
UBXD1 |
Intron |
19 |
4407187 |
0.3 |
0.38 |
0.4 |
0.37 |
hCV11513093 |
AGTGGGTGGGGGGTGCTGGGGCCACTGGGACTGGGCATGA[C/T]AGGAAGGATGCAGGGTATCGGGGTGATGGCTGGGTCAGCC |
A |
A |
C___7737948_10 |
|
|
hepatoma-derived
growth factor-related protein 2|hypothetical protein FLJ20700 |
MGC2641|FLJ20700 |
Intron |
19 |
4434485 |
0.34 |
0.02 |
0.09 |
0.13 |
hCV7737948 |
CAGGCGAGGCCAGCGTCTGAGTAGAAATGCCCGGACAGAA[C/T]GGAAGCATGGCCTGAGGAATGAGGGCGTCAGCGCTGGTCA |
G |
G |
C__11510557_10 |
rs892160 |
|
hepatoma-derived
growth factor-related protein 2 |
MGC2641 |
Intron |
19 |
4450939 |
|
|
0.06 |
0.13 |
hCV11510557 |
TGCACTGTCCCCGTCACCCCTCTGGCGTGAGCCCCAAGTT[A/G]CCTGCATGCTGGCTGCCTGGCACACGGTAGGACCTGAATG |
T |
T |
C___7742024_10 |
|
|
hepatoma-derived
growth factor-related protein 2 |
MGC2641 |
|
19 |
4461560 |
0.33 |
0.31 |
0.37 |
0.43 |
hCV7742024 |
CCAAGGGGCCGCCCCAGGCAGGGAGGACACGGGGCTTTTG[A/G]CCACCACACACGGCCCCGAAGAAGCCCCACGCTTGGCAAT |
C |
C |
C___8352835_10 |
rs1610094 |
|
sema
domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B |
SEMA6B |
Intron |
19 |
4505583 |
0.47 |
0.18 |
0.14 |
0.2 |
hCV8352835 |
AACTTTGAGTCTGTTTCATATTGTCTGGGTAACCAGCCTA[T/G]GTCCCCCCTTCACCATAAAAGCCAGTGAGTTCTTAGCCCC |
A |
A |
C__11513069_10 |
|
|
sema
domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B |
SEMA6B |
|
19 |
4510646 |
0.24 |
0.04 |
0.2 |
0.17 |
hCV11513069 |
AGCCAGAAGGCCAGGGCAGGGCTGGGGGATACCCCTGCTG[C/T]TCAGACAGGAAAATGGGCTCGGAGCTTGCCCAATACTTCC |
A |
A |
C___2583871_10 |
|
|
hypothetical
protein MGC17791 |
MGC17791 |
|
19 |
4587946 |
|
|
0.42 |
0.43 |
hCV2583871 |
TTCAGTGGGTGTTAGGGGTGGGGGAGGGATGATCTTGGCC[A/G]GGAATGCAGGCTTACTGGGTGATGGGGCTTAGTGAGAATA |
T |
C |
C___2583885_10 |
|
|
chromosome
19 open reading frame 10|hypothetical protein MGC17791 |
C19orf10|MGC17791 |
|
19 |
4607355 |
0.17 |
0.04 |
0.4 |
0.36 |
hCV2583885 |
CAGGGCCTCCTGTGCAGAAAAGGCCGTGGGAAACAGTGCC[C/T]ACCACCAGTACCCTGGCCAAGGTAGGGGGACTCTCTCCTG |
G |
G |
C___2591533_10 |
|
|
chromosome
19 open reading frame 10|dipeptidylpeptidase 9 |
C19orf10|DPP9 |
|
19 |
4625799 |
0.24 |
0.29 |
0.14 |
0.18 |
hCV2591533 |
CACATCGTCCCAGCAGCCAAGACACCCAGCAGACCCTGTT[C/T]GCAACGTGCGGGGCATGTGGGCTCCATTTCTAACAGCAGG |
G |
G |
C__22272063_10 |
rs2277735 |
|
dipeptidylpeptidase
9 |
DPP9 |
Intron |
19 |
4651187 |
0.27 |
0.37 |
0.22 |
0.21 |
hCV22272063 |
GTAAGGGGGCCTGCTGCATACCAGATAATCTACTAGATGA[C/T]GCGGGGAAGGGCCGGGTAGGCAGCTGGGTGGATGGGCAGG |
G |
G |
C____341727_1_ |
rs2277733 |
IMS-JST074760 |
dipeptidylpeptidase
9 |
DPP9 |
Intron |
19 |
4665044 |
0.14 |
0.21 |
0.3 |
0.33 |
hCV341727 |
GGCCCTGCAGGCTGCTTGGGCGGGGACAGCATCTGGGACC[G/A]CAGTTCCCTGGTCCTCTCTGTTCCCAGAGGTCCACAGGAG |
C |
C |
C____336664_10 |
|
|
dipeptidylpeptidase
9 |
DPP9 |
Intron |
19 |
4665468 |
0.49 |
0.41 |
0.22 |
0.19 |
hCV336664 |
GAGAGAGGTAGACCAACCCAAGAAGTGTTTAGGGAGTGGG[A/G]AAAGCGGCAGGGGTGGGGCTCGTCTGGAAGAACCTGAGTG |
T |
T |
C___2589496_1_ |
rs879564 |
IMS-JST037609 |
pituitary
gland specific factor 1a |
PGSF1 |
|
19 |
4719917 |
0.35 |
0.48 |
0.09 |
0.12 |
hCV2589496 |
GGATTTTTTCGGATGGGGAAGGAGCATTCATTGTGGACCA[C/T]GGAGTCTCCCCACTCTCTCCAATCCCCTCCTGGGTTCCTG |
G |
G |
C___2589513_10 |
|
|
pituitary
gland specific factor 1a |
PGSF1 |
|
19 |
4725214 |
0.44 |
0.41 |
0.18 |
0.35 |
hCV2589513 |
GGTGGTAAGTTGGTTGGACCTCTGTGGGTAATGGCTCGTC[T/G]TTACAGGGGTGTGTGGCCTCCAGGATTTTCTGTGTGATGA |
A |
A |
C_____16996_10 |
rs767959 |
|
fem-1
homolog a (C.elegans) |
FEM1A |
|
19 |
4751731 |
0.29 |
0.16 |
0.4 |
0.49 |
hCV16996 |
TCGACGTTGCTCAGATAACAGTCCTGCAATTCCATGGGGG[C/T]GGCGGCACCCGGGGTCTGGCAAAGCCATAGGGGCCTGCTT |
G |
G |
C___2589570_10 |
|
|
fem-1
homolog a (C.elegans) |
FEM1A |
|
19 |
4755004 |
0.15 |
0.35 |
0.03 |
0.05 |
hCV2589570 |
TCTCCCGACCCCGGCTGAGGAGGGGATGGTCCCTCTTTCC[T/C]GGGCCTGCTCCAAAGAGAGAGCCCAAAGGGGGCTCCCTGA |
A |
A |
C___1458258_10 |
rs8120 |
|
|
|
|
19 |
4767160 |
0.26 |
0.19 |
0.42 |
0.47 |
hCV1458258 |
GGCCAGGACCCCATAGAGCACCCCGGTCTGCCCTGTGCCC[G/T]GTGGACAGTGGAAGATGAGGTCATCTGCCACTTTCAGGAC |
C |
A |
C___1458210_1_ |
rs2271058 |
IMS-JST065798 |
mannose-6-phosphate
receptor binding protein 1|cargo selection protein (mannose 6 phosphate
receptor binding protein) |
M6PRBP1|TIP47 |
Mis-sense
Mutation |
19 |
4803106 |
0.11 |
0.11 |
0.03 |
0.15 |
hCV1458210 |
CGTCCAATCGGTCATGGGCTCCCGCTTGGGCCAGATGGTG[C/T]TGAGTGGGGTCGACACGGTGCTGGGGAAGTCGGAGGAGTG |
A |
A |
C___1458137_10 |
rs2779169 |
|
ubiquitin-like,
containing PHD and RING finger domains, 1 |
UHRF1 |
|
19 |
4851684 |
0.41 |
0.19 |
0.1 |
0.01 |
hCV1458137 |
AGATGGTCTGTTCCACCAGAGGAGTACTCTGCAAAGAGGG[A/G]ACAACCAAGCACAGAACTGAGTGATAGGAGGGACTCCAGC |
C |
C |
C___1458129_1_ |
rs2261988 |
IMS-JST070911 |
ubiquitin-like,
containing PHD and RING finger domains, 1 |
UHRF1 |
UTR
5 |
19 |
4861889 |
0.4 |
0.47 |
0.03 |
0.16 |
hCV1458129 |
CTCCCGTCCATGGTCCGAACCTGGATCCACATGGTGTCGG[A/C]GCTGAGGGGAGGGACAGCAAAAACCCCCATCAGTTTTACC |
T |
T |
C___1458126_10 |
rs3786942 |
|
ubiquitin-like,
containing PHD and RING finger domains, 1 |
UHRF1 |
Intron |
19 |
4863557 |
0.39 |
0.48 |
0.05 |
0.17 |
hCV1458126 |
AGAATACCGATGGTGAAATCTACATGGCAGGTGTGTCTAG[G/A]TGTTTTCCCATTCCTGCATGGTTGAAATGCAAAAGTTAAA |
T |
T |
C___1458125_10 |
rs2602710 |
|
ubiquitin-like,
containing PHD and RING finger domains, 1 |
UHRF1 |
Intron |
19 |
4863729 |
0.42 |
0.43 |
0.05 |
0.17 |
hCV1458125 |
ATCAATGAAAACAGAACCAAAAACAAATACTGAGCTCTAG[G/T]TACTGACGGTGTGCTGCAGTAATAAGGGAAAGGTGGACTG |
A |
A |
C___1458097_10 |
rs2656918 |
|
ubiquitin-like,
containing PHD and RING finger domains, 1 |
UHRF1 |
Intron |
19 |
4878531 |
0.29 |
0.4 |
0.11 |
0.05 |
hCV1458097 |
TTCGCCCCTTGGGGATCCAAGGCCTGACGGCTGTTCAAAT[A/G]CAAACAGCATGGGGGTCACAGTGAAGGCCAAGGCCCTTCT |
T |
T |
C___1458069_1_ |
rs2251117 |
IMS-JST044777 |
ubiquitin-like,
containing PHD and RING finger domains, 1 |
UHRF1 |
Intron |
19 |
4895596 |
0.26 |
0.2 |
0.48 |
0.43 |
hCV1458069 |
CTGGTAAAATAAGGAGTAAACCCAAACCTGCAGGCTTTCC[G/A]CACCCCTCCTCGGCTAGCCGAGGCACCACTGGTAACCACC |
T |
T |
C___2766581_10 |
rs197154 |
|
|
|
|
19 |
4934748 |
|
|
0.18 |
0.23 |
hCV2766581 |
GAAGCCGCCTGTGGCTATAGGATGTTATTCCTGGGCGGTG[C/T]TGATCCACAAGTCTCTCTTCTGGGCTTTCCTACAGCCAAA |
G |
G |
C___3067857_1_ |
rs2240678 |
IMS-JST012316 |
|
|
|
19 |
4992178 |
0.11 |
0.04 |
0.14 |
0.19 |
hCV3067857 |
AGACAAAGGTGAGGTTCTTCCAGTATTTGCGTTCAAGGTC[G/A]TCAAAGTCCTGGTGCCGCGGGGTACAGTACCTGGTGAACA |
T |
T |
C___3067873_10 |
rs2249152 |
|
|
|
|
19 |
5012052 |
0.34 |
0.43 |
0.08 |
0.05 |
hCV3067873 |
GCCCTCCGGAACCGGGGCTGGGTCAGCACCCTGAGGATCC[A/G]TGCGAACTTCATACACCGCCAGCCCACTTTAATTAGGAGC |
C |
C |
C__11694753_10 |
|
|
|
|
|
19 |
5020261 |
0.11 |
0.03 |
0.16 |
0.2 |
hCV11694753 |
ATAAGGAGGGGGCAGGAGCCAGAGAAGAGGCGAACATCAC[G/A]GAGCCTCTAATCTAACAGGACACAAATAATTAATTTCTGG |
T |
T |
C__15964728_10 |
rs2291150 |
|
|
|
|
19 |
5028265 |
|
|
0 |
0.07 |
hCV15964728 |
GGCAGGCTGGCTCTTTCCTCCCATGGAGAGCGGGCGTGTG[A/G]GAGCACAGAGCACGGCCCAGATCTGCCCTTGGTTCTCAGG |
T |
T |
C___3067900_10 |
rs999562 |
|
|
|
|
19 |
5042332 |
0.4 |
0.33 |
0.06 |
0.05 |
hCV3067900 |
ACCCACAGACAGCTGGCAGGGAACCAGTTAAGAGAGCGTG[C/A]GTGGCTCCCCAGCCTTCCAGCCAGGCTTCACATCTCTCGC |
T |
T |
C___3067911_10 |
rs2613740 |
|
|
|
|
19 |
5057414 |
0.36 |
0.28 |
0.2 |
0.27 |
hCV3067911 |
AGGAGGAGCTGAGCAGCTCTTCCAAGCTGCAGATGACGGG[C/T]GCAACGTGGATCTTTGCACACTCCAGGCAAGCTCATCCCT |
A |
A |
C___3067918_10 |
rs2620853 |
|
|
|
|
19 |
5069865 |
0.39 |
0.41 |
0.25 |
0.27 |
hCV3067918 |
GGCAGGCGTGGGCCAAGAGGAGGCGCATCCTGCATGCCCA[A/G]CCTGGACACCCACAATCCTGGGGTACATCGGGGAGGTCCC |
T |
T |
C___3067923_10 |
rs2620846 |
|
|
|
|
19 |
5076738 |
0.39 |
0.33 |
0.26 |
0.27 |
hCV3067923 |
CACCAGTCCTGAGCCCTCCCTGGGCAGAGACCCTGACGTG[C/G]CACCAACGTAGCCCCTAACCCTCCTCGCTGGTCCCTGGCC |
G |
G |
C___8352619_1_ |
rs1061273 |
|
|
|
|
19 |
5093817 |
|
|
0.46 |
0.49 |
hCV8352619 |
CGTTCAAAAGCCAGATAAGCCAAGGGCCTGGAGCAGGGCC[A/G]ATCGACGGCATCGAGATCTCGTTATTAAACTGTAAATACC |
C |
T |
C__11694679_10 |
rs2035295 |
|
|
|
|
19 |
5107552 |
0.34 |
0.27 |
0.23 |
0.28 |
hCV11694679 |
GCCCCAGGCGTGTCCCCCAGCTTCCTTGTGTTCTGTGCCT[C/G]GTCTCTGGGGCCCTGGGAGTCCCTGGGAGCTTCTCTCCCT |
G |
G |
C__11453813_20 |
rs1978237 |
IMS-JST010488 |
protein
tyrosine phosphatase, receptor type, S |
PTPRS |
Intron |
19 |
5160641 |
0.34 |
0.18 |
0.4 |
0.45 |
hCV11453813 |
GGAAGACAGAATTGGAGAAGGGCAAATGTTTGGCCAGCAG[C/G]GGGTGGAGAAAATCAATGGGAAATACTAGGACTAAGAAAG |
C |
C |
C___2583789_10 |
rs886933 |
|
|
|
|
19 |
5284960 |
0.46 |
0.08 |
0.35 |
0.3 |
hCV2583789 |
GATCACCAAAGGGGGGAGTTTGGGGGGGATTTGGGGGTTT[A/G]ACAGCAGTCATTTGATGGGCACTCAGGAAAGTGATCGGTT |
C |
C |
C___7739075_10 |
rs892140 |
|
|
|
|
19 |
5303551 |
0.1 |
0.17 |
0.16 |
0.17 |
hCV7739075 |
AGATTAACCTTATTATAGTCTGAGGGAAAAATATGGAAAA[C/T]ATGCAGGAAAAAAGAAGTTGGTGTGCTATGGGAAGAAGAA |
G |
G |
C___8352551_10 |
rs892136 |
|
|
|
|
19 |
5306437 |
0.33 |
0.39 |
0.26 |
0.44 |
hCV8352551 |
TGGGCTGGTGCTCAGGCTTTCTGCGTCTCGCCCATAAAAT[A/G]TGGCAGTAACAGCACAGACCTAGGACTGCGAGGGCAGGGG |
C |
C |
C___8352437_10 |
rs535765 |
|
|
|
|
19 |
5386309 |
0.43 |
0.08 |
0.3 |
0.31 |
hCV8352437 |
CGTTCCTGCACAGGACTGGACCCACAGTGGCAGGAGGGGT[A/G]AACAGTAGTGGGATAGTTGGGTGGTCTTTTCCTTCCCCCA |
T |
T |
C___8352295_20 |
rs1006130 |
|
|
|
|
19 |
5475461 |
0.3 |
0.17 |
0.38 |
0.45 |
hCV8352295 |
GGAAGCCTGGGGAGCCAGGCCTGCCAGTGGGAGTTCACTC[C/A]CCCCTCGCCACCCTGCAAACTCATGTTCCTGCTACCAACA |
T |
G |
C__11515795_10 |
|
|
|
|
|
19 |
5499195 |
0.14 |
0.11 |
0.14 |
0.15 |
hCV11515795 |
CTGTCCCCCACCTAGCAGGATAAAATGGTGTGAGGATCAG[T/C]GGCAGACTCCCTATCTCCAGGCAGATCTGTCTCCCTTAGA |
A |
A |
C___7738214_10 |
rs749213 |
|
placenta-specific
2|hypothetical protein FLJ90734 |
PLAC2|FLJ90734 |
Intron |
19 |
5515240 |
0.35 |
0.31 |
0.12 |
0.1 |
hCV7738214 |
AAAACACTTGGGACCTGTCAGCGCAGACGGTACCCTAGGG[T/A]GAGAGAAGCTGCGTGGGCTGCTCGGGACAAACCTGCCAGG |
T |
T |
C___2568792_10 |
|
|
scaffold
attachment factor B2|KIAA0138 gene product |
SAFB2|KIAA0138 |
Intron |
19 |
5542006 |
0.3 |
0.25 |
0.44 |
0.49 |
hCV2568792 |
GTCCGTGCTTGGTGGGCACGGGGGGCTGAAGACCACAAGA[G/A]TGGTCCCTGAGTCTCTGTGGTGCCATGCGGGTGCCCCGTG |
C |
C |
C___2568793_1_ |
rs2285963 |
IMS-JST036341 |
scaffold
attachment factor B2|KIAA0138 gene product |
SAFB2|KIAA0138 |
Intron |
19 |
5542735 |
|
|
0.17 |
0.29 |
hCV2568793 |
ACCACCGGGATGGGCAGGTGAGTAGAGCCCCGATGCCAAG[C/T]CCTGGGGCCACTGTACTGCTGTGCAGGCATAGCGGACCAT |
A |
A |
C___2568797_1_ |
rs739943 |
|
scaffold
attachment factor B2|KIAA0138 gene product |
SAFB2|KIAA0138 |
Intron |
19 |
5550837 |
|
|
0.48 |
0.45 |
hCV2568797 |
TTGGCTGATTGTAGTGTGGGATTTGCAAGAGTGAGTTGTC[C/T]GAGTTTCTTGTAACTAACCTGATGCTATTTTGCAGGTGTG |
A |
G |
C___8352093_10 |
rs809374 |
|
scaffold
attachment factor B2|KIAA0138 gene product |
SAFB2|KIAA0138 |
Intron |
19 |
5560257 |
0.35 |
0.23 |
0.11 |
0.1 |
hCV8352093 |
ATTGACTTTCATATCATTTAGCATTTTAAGTATATAGTCT[C/G]ATAACTAGAACATGATCGTGGTTCAAAAATAAATCACTAA |
G |
G |
C___8352086_10 |
rs806710 |
|
scaffold
attachment factor B|scaffold attachment factor B2|KIAA0138 gene product |
SAFB|SAFB2|KIAA0138 |
Intron |
19 |
5569444 |
0.34 |
0.18 |
0.12 |
0.09 |
hCV8352086 |
ACATGCAATTAAACTGCATTTCTTGAGTGATTATTGATAA[C/T]AGTGGTGAGTGAGACTCTTGAGGTGTAGACCCTGCAGGTT |
A |
A |
C__25612006_10 |
|
|
scaffold
attachment factor B |
SAFB |
Intron |
19 |
5598970 |
|
|
0.02 |
0.06 |
hCV25612006 |
AAATAAGACTGTGCCAGATGAATGACACCTACAGTTTATT[C/T]AAATGAAAACCCAGAATAACTAAAGAGGGAATTTTAAAAA |
G |
G |
C___3081820_10 |
|
|
scaffold
attachment factor B |
SAFB |
Intron |
19 |
5617336 |
0.36 |
0.21 |
0.11 |
0.06 |
hCV3081820 |
GGCTAACACAGACCAGGAGTTCTTGACCCTGCTGTTTCAG[G/A]GAAGACCAAGAGAGGGCGAGTCACACTCTATGCCTACTTA |
T |
T |
C___3081821_10 |
|
|
scaffold
attachment factor B |
SAFB |
|
19 |
5620282 |
0.34 |
0.21 |
0.1 |
0.05 |
hCV3081821 |
TGATGACCTTCAGCCTTCACTGCTTCCACCCGACTCTGCC[A/G]TGAAAATAGTTTGTCCTCTGAGTAAAAAGGTAATGCGGAA |
T |
T |
C__11509769_10 |
|
|
scaffold
attachment factor B |
SAFB |
|
19 |
5620970 |
0.35 |
0.22 |
0.11 |
0.05 |
hCV11509769 |
TTCGCCAGGGACGGGTTGCAAGAAAGGCGAGCACAGGACC[C/G]AGTTCTGGCTAAGGAGCCTCAGGGGTAAGTTTGCCAAGAG |
G |
G |
C___9617186_10 |
rs1337057 |
|
ribosomal
protein L36|scaffold attachment factor B |
RPL36|SAFB |
|
19 |
5627950 |
0.12 |
0.02 |
0.04 |
0.06 |
hCV9617186 |
AGGAGGGGTTTGCACTCGGTGCTGTGATGCCATGGCTGGG[C/T]CAGAGGGCGTCCGTCCGCTCCAGGAGGCCTCTGCAGCCTC |
A |
A |
C__11965954_1_ |
rs3745625 |
|
protease,
serine, 15|ribosomal protein L36 |
PRSS15|RPL36 |
Silent
Mutation |
19 |
5647101 |
|
|
0.02 |
0.06 |
hCV11965954 |
CCGAGCCGCTGCGAGACCGTATGGAGATGATCAACGTGTC[G/A]GGCTACGTGGCCCAGGAGAAGCTGGCCATTGCGGAGGTAA |
T |
T |
C___3081822_1_ |
|
|
protease,
serine, 15 |
PRSS15 |
Intron |
19 |
5658204 |
|
|
0.11 |
0.23 |
hCV3081822 |
CTCTCAGGGTGCGCATTTTCCCCCAACCTCGGCCCTACAC[A/G]CACAGATGCCGACTTCTGCTCATCCTTTCTGTCCTCCCTG |
T |
T |
C___1671079_10 |
|
|
neurturin |
NRTN |
|
19 |
5767922 |
0.07 |
0.26 |
0.4 |
0.35 |
hCV1671079 |
ATGAATCCACTAGTGTGTTCTCACACTCACATTTGAATAC[A/G]TCGTGCTCACATGCTAGGGCGTTTTCACAGTCACACTCAA |
T |
T |
C___3116923_10 |
|
|
neurturin |
NRTN |
|
19 |
5779776 |
0.49 |
0.29 |
0.14 |
0.11 |
hCV3116923 |
ACCTCAGTCTCTTCATCCCAGAAGCGAGAGGTGCAGTCAG[C/G]GACAATCTGGGGAAACTGGGCCCACCTAGACTTCAGTGTC |
G |
G |
C___3063974_10 |
|
|
fucosyltransferase
3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group
included)|neurturin |
FUT3|NRTN |
|
19 |
5783899 |
0.34 |
0.05 |
0.21 |
0.24 |
hCV3063974 |
GATCGGCTGTGTCTTCTCTCCAGATTGAGGAAGAGTCTGG[G/T]GACACACCAGAAAAGGACAGGATCAAGGTGGGACCTGAGG |
A |
A |
C__11458573_10 |
rs1678849 |
|
fucosyltransferase
3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group
included)|neurturin |
FUT3|NRTN |
|
19 |
5787964 |
|
|
0.12 |
0.24 |
hCV11458573 |
CTGAAGGTACTCAAAAGTTTCCCAATTACTGCCTGTAATA[C/T]CAGTCATTGCTTTTTTTCTTTTTGAGTATCTGTTTCTTGT |
G |
G |
C___7507648_10 |
rs778798 |
|
fucosyltransferase
3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included) |
FUT3 |
|
19 |
5790613 |
0.28 |
0.05 |
0.1 |
0.12 |
hCV7507648 |
TGGGGAAAGGAAGTGGCTTTGAGGCACACAGAGGGGCTTG[G/T]TGAGGCCACCGGAGGAAGCTTCTGCCACCAATATGGGACC |
A |
A |
C__16195207_10 |
rs2306969 |
IMS-JST064755 |
fucosyltransferase
3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included) |
FUT3 |
|
19 |
5802801 |
0.29 |
0.25 |
0.1 |
0.07 |
hCV16195207 |
CTGACTGAATGGGTGGGATGGTTAAAATTCTGCTCACTTC[C/T]CTCCCTTTACCATCTCCCGAGAAACCCATGGGGCCCCCGT |
A |
A |
C___3064020_10 |
rs121742 |
|
RAN
binding protein 3 |
RANBP3 |
Intron|UTR
5 |
19 |
5883848 |
0.36 |
0.17 |
0.31 |
0.32 |
hCV3064020 |
GAGCCTCCAGGTAGCTGCCTGTGAATGCACTGCTCTCCTC[C/T]CACAGTCTCCACTTGACTGTTGAGTCTGCCGGCGCCCCGC |
G |
G |
C____801670_10 |
rs274791 |
|
RAN
binding protein 3 |
RANBP3 |
Intron |
19 |
5885233 |
0.36 |
0.1 |
0.31 |
0.3 |
hCV801670 |
|
#N/A |
#N/A |
C____998902_10 |
rs671892 |
|
RAN
binding protein 3 |
RANBP3 |
|
19 |
5920186 |
0.36 |
0.16 |
0.24 |
0.28 |
hCV998902 |
GAGCCTGGGCCCCAACCTTTACACTGGATAAATCCAGATT[C/T]GTCAGCATGGCCTGCAAGGCTGAACGTCCTGTGGGCTCCA |
A |
A |
C___3184906_10 |
rs552320 |
|
RAN
binding protein 3|regulatory factor X, 2 (influences HLA class II expression) |
RANBP3|RFX2 |
|
19 |
5934379 |
0.35 |
0.23 |
0.25 |
0.29 |
hCV3184906 |
TGTCTCAGTGTCCCCTGAAAAGCCACGACTGGATTCTATT[C/T]AGCAAGTGATGACATGGTGCTGCGAGTTTCCCAAAGTGTG |
A |
A |
C___2596688_10 |
rs454532 |
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
5947764 |
|
|
0.4 |
0.44 |
hCV2596688 |
|
#N/A |
#N/A |
C___2019050_10 |
rs598236 |
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
5960445 |
|
|
0.29 |
0.17 |
hCV2019050 |
AACATGAGGCAGTCTTGGCCTCTTCCCTGGGGGCTGCTCA[A/G]GGGACAGCGTTCTTCCCCAGCTGGCTTAGTGGTGGTGCCA |
C |
C |
C____998917_10 |
|
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
5965985 |
0.01 |
0.39 |
0.06 |
0.08 |
hCV998917 |
CAGCACCTCCAACCCAAAGCTGGTGGCCCAGAGAGTGCAG[G/T]AGGCTGCTGCCTGCTGAGGCTGTGATCCTGTGGCCAGCGA |
C |
C |
C__11458281_10 |
rs1865028 |
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
5966066 |
0.01 |
0.38 |
0.06 |
0.08 |
hCV11458281 |
CCTATGGCAGCCCCGGGACATCACAGGCCACAGACTTATC[A/G]CAGGCAATTATGCCAACTCTCCTCTAACAGAAAGAAACAG |
C |
C |
C____998922_10 |
rs527555 |
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
5971437 |
|
|
0.06 |
0.08 |
hCV998922 |
TCCCAGAAGTTCATCAACACAGAAGAGGGAGGAAATAGAC[C/G]CGACTGTTCCAGCCGCTTCAGTCTTCTCTGTGGTTTCTTG |
G |
G |
C____998929_10 |
rs673153 |
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
5984976 |
0.32 |
0.13 |
0.36 |
0.24 |
hCV998929 |
TGTCCAATGATCAGAGCGAATTATTTGCCAGCCAACACAC[G/A]TGATGATAATCGCTCTTCCCACTGCCTGCCTTTGACATTC |
C |
C |
C___2019072_10 |
|
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
6015449 |
|
|
0.13 |
0.14 |
hCV2019072 |
TTGAAGCTGGGACAGGAGAGGGTGAGTGAGGTGAGGCCTC[C/T]GCATGCCAGGTTTTCACTGGCACATTCCCCATCTTCATCT |
A |
A |
C___2019075_10 |
rs637094 |
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
6028059 |
|
|
0.06 |
0.09 |
hCV2019075 |
CCGAGAATAAGGTTGCACGTGGTAGGAGGAGTTCTGTGTG[C/T]ACCGAGGTCTCATGGAAGGACTGGATTTCTAGGGAAGAAA |
G |
G |
C__11697560_10 |
|
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
6051433 |
0.41 |
0.23 |
0.3 |
0.18 |
hCV11697560 |
GTATTGTCTCCCTGCGGCTCTTTGCACAGACCTTGGGCTC[C/T]GTCGTCTCTGGATTCTTACTGATCTCTTCCTCTTCTCCCA |
G |
G |
C__11697559_10 |
|
|
regulatory
factor X, 2 (influences HLA class II expression) |
RFX2 |
Intron |
19 |
6051473 |
|
|
0.12 |
0.15 |
hCV11697559 |
CTTCCGGTCGCCGCCAAAGCCTCCTGCCTAATCACTTCCT[G/A]TATTGTCTCCCTGCGGCTCTTTGCACAGACCTTGGGCTCT |
T |
T |
C___7747711_10 |
|
|
bubblegum
related protein|hypothetical protein PRTD-NY3 |
BGR|PRTD-NY3 |
Intron |
19 |
6096564 |
0.41 |
0.26 |
0.25 |
0.17 |
hCV7747711 |
GTCCAAGAGACCCTCTTGGAGAATTGGGTGTGTAACCTTG[A/C]GTTTGTTCAACTGAACCTGGTCTACTGGGGAGGTGGTAGA |
G |
G |
C___7747642_10 |
|
|
bubblegum
related protein|hypothetical protein PRTD-NY3 |
BGR|PRTD-NY3 |
Mis-sense
Mutation |
19 |
6107483 |
0.35 |
0.26 |
0.26 |
0.18 |
hCV7747642 |
CAAGATGTTCACTTTGGCATGAGTGATGACATATTGACAA[A/G]CCTCGGCAGAGTTGGTGGCATAAATACCAACACAAAGACC |
T |
T |
C__25603053_10 |
|
|
bubblegum
related protein|hypothetical protein PRTD-NY3 |
BGR|PRTD-NY3 |
Mis-sense
Mutation |
19 |
6134233 |
|
|
0.06 |
0.08 |
hCV25603053 |
TGTAGTTATTCTGGTTGGATATCGTGTGGGGTCCCGAGCT[T/C]TCACTCAACCCATACAACTCGCCTATAGGTATGTCCAAGC |
A |
A |
C___7747453_10 |
rs1865061 |
|
myeloid/lymphoid
or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 |
MLLT1 |
Intron |
19 |
6189414 |
0.26 |
0.32 |
0.12 |
0.27 |
hCV7747453 |
CGCAAGGGTTGTTTTGAATCAGGTCCTAGACATCACGTCT[T/A]CTAATCTGCTAATATTTCCTGCTGTGCCTGTAAGATAAGA |
A |
A |
C__11513498_10 |
|
|
myeloid/lymphoid
or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 |
MLLT1 |
Intron |
19 |
6212324 |
0.2 |
0.34 |
0.12 |
0.2 |
hCV11513498 |
AGAGGCATTTGGCGTGCGGCCGTCCTAGGAGCCGGGTGAC[A/G]TTTCAGCCGGTGCAGCTTGGCCGATTTCAGATGCAAGGCC |
T |
T |
C__15831520_10 |
rs2860168 |
|
ClpP
caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E.
coli)|general transcription factor IIF, polypeptide 1,
74kDa|persephin|spermatogenesis associated 11|hypothetical protein MGC10974 |
CLPP|GTF2F1|PSPN|SPATA11|MGC10974 |
Intron |
19 |
6317149 |
0.1 |
0.08 |
0.32 |
0.31 |
hCV15831520 |
CAGGAGCTTCCCTGGGCTTTGGGCTTCCGGTTTGAGGCTG[G/A]TGGGCTGGGGTTGTGTAAATCCCCCGATATCCTGCTTCAG |
T |
T |
C__15973830_10 |
rs2304198 |
|
ClpP
caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E.
coli)|general transcription factor IIF, polypeptide 1,
74kDa|persephin|spermatogenesis associated 11|hypothetical protein MGC10974 |
CLPP|GTF2F1|PSPN|SPATA11|MGC10974 |
Silent
Mutation |
19 |
6326831 |
0.2 |
0.27 |
0.3 |
0.29 |
hCV15973830 |
|
#N/A |
#N/A |
C__25602976_10 |
rs3745573 |
|
general
transcription factor IIF, polypeptide 1, 74kDa|persephin|spermatogenesis
associated 11|hypothetical protein MGC10974 |
GTF2F1|PSPN|SPATA11|MGC10974 |
Intron |
19 |
6334537 |
0.1 |
0.11 |
0.31 |
0.32 |
hCV25602976 |
CTCGCCCCCTGCAAGCACAGATGCAGGGTGGTGCCAGGCC[C/T]GGCATGAGCCCCCCTGTGCCTGGCCCGCAGGAGGAACAAG |
A |
A |
C___8352068_10 |
|
|
KH-type
splicing regulatory protein (FUSE binding protein 2) |
KHSRP |
|
19 |
6355507 |
0.12 |
0.13 |
0.19 |
0.27 |
hCV8352068 |
GGAATCACCACACCCTTCCTGCACATTGTGTTCTTGTGCA[T/C]AGAGATCTCCATCCTGGGGATCCATCATCAAGCCAGACCT |
G |
G |
C___8352061_10 |
|
|
KH-type
splicing regulatory protein (FUSE binding protein 2) |
KHSRP |
|
19 |
6360117 |
0.47 |
0.11 |
0.48 |
0.47 |
hCV8352061 |
ATAGCGTGAGGAATCCCCAGACAGCCAGGTCTAACCATTG[C/T]TGTATCTGTGCCCAAACCTCTTGTGAATGCTGGTTATGGG |
G |
A |
C___1129912_10 |
|
|
KH-type
splicing regulatory protein (FUSE binding protein 2) |
KHSRP |
|
19 |
6360152 |
0.27 |
0.05 |
0.18 |
0.1 |
hCV1129912 |
ATGTAATGAAATACTGCAAACGCACACAGAAGAGGATAGC[A/G]TGAGGAATCCCCAGACAGCCAGGTCTAACCATTGTTGTAT |
C |
C |
C___1129938_10 |
rs3786689 |
|
KH-type
splicing regulatory protein (FUSE binding protein 2)|hypothetical protein
MGC34725 |
KHSRP|MGC34725 |
Intron |
19 |
6368350 |
|
|
0.47 |
0.44 |
hCV1129938 |
|
#N/A |
#N/A |
C___1129940_1_ |
rs2305059 |
IMS-JST062231 |
KH-type
splicing regulatory protein (FUSE binding protein 2)|hypothetical protein
MGC34725 |
KHSRP|MGC34725 |
Intron |
19 |
6370275 |
0.37 |
0.45 |
0.47 |
0.44 |
hCV1129940 |
GCCTGTGGGCCAGGGAGGGCACTGACTCTATCTCCTCTTT[C/T]CAGACAGCGGTGGCCTACCCGAGCGCAGTGTGTCCTTGAC |
A |
A |
C__11513364_1_ |
rs2075755 |
IMS-JST003508 |
KH-type
splicing regulatory protein (FUSE binding protein 2)|hypothetical protein
MGC34725 |
KHSRP|MGC34725 |
Intron |
19 |
6373888 |
0.38 |
0.48 |
0.48 |
0.44 |
hCV11513364 |
ATTGATAAAAGGATTTTGAGAGTGGGGGAGATAGGGGAAA[A/G]TTGAACTCTTCAGCATCCCAGGAAAACGGGGCTAAAAAAA |
T |
T |
C__15947947_10 |
rs2234182 |
|
tubulin,
beta, 5|tumor necrosis factor (ligand) superfamily, member 9 |
TUBB5|TNFSF9 |
UTR
3 |
19 |
6486080 |
|
|
0.19 |
0.24 |
hCV15947947 |
AGGATTCGGACTCTGTCCAGGTGGGCTGCACCCAGGCTGG[G/A]CGTTATTCCGACCTCGGTGAAGGGAGTCCGGCTGGGATTT |
T |
T |
C___8354578_1_ |
rs17030 |
|
complement
component 3|tumor necrosis factor (ligand) superfamily, member 14 |
C3|TNFSF14 |
Silent
Mutation |
19 |
6628989 |
|
|
0.39 |
0.4 |
hCV8354578 |
GCTACATCATCGGGAAGGACACTTGGGTGGAGCACTGGCC[C/T]GAGGAGGACGAATGCCAAGACGAAGAGAACCAGAAACAAT |
G |
A |
C___8354557_1_ |
rs7951 |
|
complement
component 3 |
C3 |
Silent
Mutation |
19 |
6632991 |
|
|
0.07 |
0.14 |
hCV8354557 |
GTGTTGACAGATACATCTCCAAGTATGAGCTGGACAAAGC[C/T]TTCTCCGATAGGAACACCCTCATCATCTACCTGGACAAGG |
A |
A |
C___1998075_10 |
rs344548 |
|
complement
component 3 |
C3 |
Intron |
19 |
6636817 |
0.09 |
0.3 |
0.01 |
0.12 |
hCV1998075 |
TCCACCTGGTGGGCTCTAGACCAGGTTCCCAGTTCTATCT[G/C]ACAATCTTACCCTGTCTTGCTGGTGGGTTCTAGACCATGT |
G |
G |
C___1998072_1_ |
rs2241392 |
IMS-JST013252 |
complement
component 3 |
C3 |
Intron |
19 |
6636983 |
0.46 |
0.44 |
0.36 |
0.25 |
hCV1998072 |
CCAGTGTGATTGCAGTGGAGTTGAGAATCAGTTTTTATTA[C/G]TTGCAAACCCATCTATAGGTTCTAGAATACAATCTGGGTA |
G |
G |
C____987748_1_ |
rs432001 |
IMS-JST013247 |
complement
component 3 |
C3 |
Intron |
19 |
6644683 |
0.17 |
0.28 |
0.04 |
0.2 |
hCV987748 |
TATCCTTCTCCTCTCTGAATCCCTTGTCCTCTTGAGAACT[C/T]TTCCACCTCCTCGTTCTGATCCCCCACCCTCTTTGAGTCC |
G |
G |
C___2024442_1_ |
|
|
complement
component 3 |
C3 |
Silent
Mutation |
19 |
6653157 |
0.4 |
0.32 |
0.15 |
0.13 |
hCV2024442 |
TTTTGAAAGACTCCATCACCACGTGGGAGATTCTGGCTGT[C/G]AGCATGTCGGACAAGAAAGGTGAGAGAGGATGCTGGCTGG |
C |
C |
C___1998031_10 |
|
|
complement
component 3 |
C3 |
Intron |
19 |
6662689 |
0.14 |
0.21 |
0.38 |
0.29 |
hCV1998031 |
GGCCTCCCAGTCCCTCTGCAGCTCCCAGGCTGCGCACCCC[T/A]CTTACCCCTCCCTGTGCTCAGCATGTGCGTGAATTTCCGG |
A |
A |
C___3171351_10 |
rs344614 |
|
complement
component 3 |
C3 |
|
19 |
6679400 |
0.38 |
0.46 |
0.3 |
0.35 |
hCV3171351 |
GGGGGCAGGAGGAGGGCGAGAGAAGCTGGCAGAGGCCTAA[A/G]GACAGGCAGGCACATGGGGCTTCATCCAGGGGTCCACAGG |
T |
T |
C___3171353_1_ |
rs2279626 |
IMS-JST027423 |
thyroid
hormone receptor interactor 10 |
TRIP10 |
|
19 |
6682304 |
0.43 |
0.22 |
0.46 |
0.43 |
hCV3171353 |
CCTGCCCGTGCCCCTACAGTCCTGGCCCCACGCCTGCTCG[T/C]GCCCCTGCAGGTCATCTGCTACGTCTACTTCACCCGCATC |
A |
A |
C____987918_1_ |
rs339400 |
IMS-JST065059 |
thyroid
hormone receptor interactor 10 |
TRIP10 |
|
19 |
6688063 |
0.15 |
0.09 |
0.06 |
0.09 |
hCV987918 |
CTCTGGGCACTTAATGGGATTTGGGGGGTTCTGTTGAAAT[A/G]TTGCTGGGAGCTCAACTGGAATGTAAAAGTTCTTCGGGAA |
T |
T |
C___3171370_10 |
rs339408 |
|
SH2
domain containing 3A|thyroid hormone receptor interactor 10 |
SH2D3A|TRIP10 |
Intron |
19 |
6693864 |
0.4 |
0.35 |
0.19 |
0.16 |
hCV3171370 |
CCTCCAGGTGGAAAAGGGTTAAGCCCCAAGAATGTAATCC[C/T]TGAAGCGATGACAAATTCTGGTCCATATTCCTTAACCCCA |
G |
G |
C___3171373_10 |
rs339406 |
|
SH2
domain containing 3A|thyroid hormone receptor interactor 10 |
SH2D3A|TRIP10 |
Intron |
19 |
6695254 |
0.31 |
0.16 |
0.46 |
0.41 |
hCV3171373 |
CAGAACCAGCCCTGATACTCCCAGGGCCACGGATGGGACA[C/G]AGAGTGGAGCGCTAGATTGAAACAGGAGAGGGGAAATTCG |
G |
G |
C____798486_10 |
rs682626 |
|
SH2
domain containing 3A|vav 1 oncogene |
SH2D3A|VAV1 |
Intron |
19 |
6725069 |
0.16 |
0.11 |
0.11 |
0.22 |
hCV798486 |
TGGATCTCTTCCACCAATGGCCCTGCCCCTGAAAACCACC[C/T]GCCAGGAACCCCCATGGGCCCATCTCCATTAACTTATCCT |
A |
A |
C___3166928_10 |
rs164022 |
|
vav
1 oncogene |
VAV1 |
Intron |
19 |
6779040 |
0.45 |
0.15 |
0.34 |
0.39 |
hCV3166928 |
AATCAGAGAACAATGGGGAAACTGAGGCAGGTCCCAGAAA[C/G]AGCCAGTTGCAGGGTGGGTGCAGATAGATTTGAATAAATA |
C |
C |
C____982514_10 |
rs308199 |
|
vav
1 oncogene |
VAV1 |
Intron |
19 |
6784989 |
0.21 |
0.3 |
0.36 |
0.29 |
hCV982514 |
CTGGGTCAACATCAATAGAGATGAATTTTCCTCCTGCCCC[C/A]ACACAGCAACCCCTGCCAACTCACCCAGCTCATTCCTCTT |
G |
G |
C___3057731_1_ |
rs331679 |
IMS-JST065933 |
vav
1 oncogene |
VAV1 |
Intron |
19 |
6799220 |
0.4 |
0.17 |
0.41 |
0.3 |
hCV3057731 |
GGGAACCAGCAGGGGCTCAGTAAAAGGTGGATGCTATTAC[C/T]GTACACTTCTATAAAGTAAAACCTGGATACCCTTTTTCCC |
A |
A |
C___3057733_10 |
|
|
vav
1 oncogene |
VAV1 |
Intron |
19 |
6805223 |
0.21 |
0.5 |
0.38 |
0.25 |
hCV3057733 |
GCATAAATGACATCCCTGTGTCCCTTCCTTCCCTCCCACC[A/G]TGAGAGATCTCCATGGGAGCCGCACCTCACCTTCTCCAGT |
T |
T |
C___1656656_1_ |
rs443658 |
IMS-JST042681 |
egf-like
module containing, mucin-like, hormone receptor-like 1 |
EMR1 |
Mis-sense
Mutation |
19 |
6854920 |
0.21 |
0.25 |
0.47 |
0.48 |
hCV1656656 |
TCTACATTCCACTCCTTGGTCTGTGAAATTCAACTGTCCA[C/T]TGCTTGGTGCAAAGCCAGGGTGGCAGGTGCAAAAGTAGCT |
G |
G |
C____795852_1_ |
rs415188 |
IMS-JST042678 |
egf-like
module containing, mucin-like, hormone receptor-like 1 |
EMR1 |
Intron |
19 |
6857239 |
0.22 |
0.26 |
0.47 |
0.48 |
hCV795852 |
AGGACGTGTTTACTACAACACACAATTTTCTAATTTGCTC[T/G]GTTTCACTCAATATCATGCCTCTTAGAGGCAATCATGCAT |
A |
A |
C___8356221_1_ |
rs461645 |
|
egf-like
module containing, mucin-like, hormone receptor-like 1 |
EMR1 |
Mis-sense
Mutation |
19 |
6870753 |
|
|
0.25 |
0.17 |
hCV8356221 |
TAGACAAGAATCTCAGTAGAGACCTCTTCACAAACCTGAA[C/T]GTTCTCCAGAGTGTAGATGATTGGATCTGAGAAGCCGTCT |
A |
A |
C___8356209_1_ |
rs2290634 |
|
egf-like
module containing, mucin-like, hormone receptor-like 1 |
EMR1 |
Intron |
19 |
6875672 |
|
|
0.24 |
0.15 |
hCV8356209 |
AATGATGTACAAGGAAAAGTCCATCTGTCAGGAAGGAATT[C/T]CAGAGTTGGCCTGAGAATGGGATCAAAATCCCCCCAGGCG |
G |
G |
C___1656738_10 |
rs457762 |
|
egf-like
module containing, mucin-like, hormone receptor-like 1 |
EMR1 |
|
19 |
6893935 |
0.27 |
0.39 |
0.34 |
0.27 |
hCV1656738 |
GATGTGTGTAGTACGAAAAAAATCCTGCATGGAGGTCACA[T/C]CTTTATCCACTTACCTTAGAAATATAGAGCTTCTTAAGGT |
G |
G |
C___3189046_10 |
rs422318 |
|
|
|
|
19 |
6902434 |
0.27 |
0.44 |
0.27 |
0.26 |
hCV3189046 |
TTACTGGTTTTTAGGTATGTTTTCAGCATATTAATAAATG[G/T]GTGGATGATTGTTATGACAGAACAGCTCCAAAAAGATTTT |
A |
A |
C___9617212_10 |
rs1466714 |
|
|
|
|
19 |
6940025 |
0.41 |
0.4 |
0.36 |
0.44 |
hCV9617212 |
AGGCAGGTTACAAACACAAGAGTCACAGATTTGGACATCA[C/T]ATCCTTCTGAAGTATGAGAAGTGCATCTGATTGCAGCTGT |
C |
C |
C___2023091_10 |
|
|
|
|
|
19 |
6948601 |
0.04 |
0.24 |
0.2 |
0.19 |
hCV2023091 |
CTTCTGCTTGGGCAAGGAGTGTGTGTGTTGTTATGTGATA[C/G]TCTGAAACCTGCTGGGATGCCTTATCACGCACAAAGAAGG |
C |
C |
C___2023088_10 |
|
|
|
|
|
19 |
6948940 |
0.05 |
0.1 |
0.26 |
0.18 |
hCV2023088 |
CTAATAGACCCTGCATTATGCAAACTCCCCAAACAACAAC[G/A]CAGCCTCCGTGTCCACCCACAAGACTCCTTGAGAAACCGG |
T |
T |
C__15845857_10 |
rs2914572 |
|
zinc
finger protein 557|hypothetical protein MGC4054 |
ZNF557|MGC4054 |
|
19 |
7019207 |
0.4 |
0.16 |
0.37 |
0.32 |
hCV15845857 |
TCCTTAAATGATTATGTTTGGTGAGGAAAATTAGTTTTAC[A/G]GTACGTAAGAGTTATGTGCTAATTGTTTCGGAGAAGAAAG |
C |
C |
C___7752329_10 |
rs2967662 |
|
zinc
finger protein 557|hypothetical protein MGC4054 |
ZNF557|MGC4054 |
Intron |
19 |
7024615 |
0.07 |
0.12 |
0.22 |
0.4 |
hCV7752329 |
TCCTGCCTGCAGCCTCACAGCCCCCACCCTCCAGTTAATA[C/T]AGCTGCCAAGTGTCTCTGACATCTGGTCTCTGTGGTGTTA |
A |
A |
C__11517974_10 |
rs2352958 |
|
zinc
finger protein 557|hypothetical protein MGC4054 |
ZNF557|MGC4054 |
|
19 |
7035747 |
0.34 |
0.45 |
0.5 |
0.45 |
hCV11517974 |
TTGGTAGGGGGAAAGTTTGAGCTCAAAGTTTTACCATACA[G/A]ATTACACTCACAAGATTTCTCTCTAGAGTGAGTTAACCTG |
C |
C |
C__11968427_1_ |
|
|
insulin
receptor |
INSR |
|
19 |
7065213 |
0.18 |
0.03 |
0.2 |
0.15 |
hCV11968427 |
AAGTGAGCACAAAGGTGCCCTGGGCTCCCTGATGGTTTAT[G/T]CCCACTCCTTTCAGGCTGGTGATGCACCTTACACACAAAC |
A |
A |
C___2931133_1_ |
rs3745550 |
|
insulin
receptor |
INSR |
|
19 |
7066573 |
|
|
0.31 |
0.29 |
hCV2931133 |
GCACAACAACCTGGATGGACTTTGGGAACATCTAAGCAAT[A/G]TAAGAGAGAGGTGCACTGAGAGTACGTCTTGGTCCCCTCC |
C |
C |
C___8356118_1_ |
|
|
insulin
receptor |
INSR |
|
19 |
7067283 |
|
|
0.45 |
0.34 |
hCV8356118 |
TCCCCCTCTCTCCTTCCTTCTTATTGACTGGGAGACTGTG[C/G]TCTCGACAGATTCTTCTTGTGTCAGAAGTCTAGCCTCAGG |
C |
C |
C__15878502_10 |
rs2288404 |
|
insulin
receptor |
INSR |
Intron |
19 |
7075986 |
0.5 |
0.29 |
0.34 |
0.44 |
hCV15878502 |
GGAATCTTCCATCATTTTCTGGAATCTTCCACCACTTTCC[A/G]GAATCTTCCATCATTTTCCACAATCTTCCATTGCTTTTTA |
#N/A |
#N/A |
C___8356128_1_ |
rs1799817 |
|
insulin
receptor |
INSR |
|
19 |
7076297 |
|
|
0.43 |
0.26 |
hCV8356128 |
TCAATGAGGCCTCGGTCATGAAGGGCTTCACCTGCCATCA[C/T]GTGGTGAGTCCAGTGGGGGTGGGACATGGGCTGGCTTTCC |
A |
A |
C___2931094_10 |
|
|
insulin
receptor |
INSR |
Intron |
19 |
7094711 |
0.08 |
0.49 |
0.41 |
0.32 |
hCV2931094 |
TTTTAAAATTTGTTAGCTATCAACCTTTGTTGTTTAATAT[A/G]TCTTCTTAAGGGATGGGGAGAAGTGTGCCAATTGCATAGA |
C |
C |
C___2931085_1_ |
rs2252673 |
|
insulin
receptor |
INSR |
Intron |
19 |
7101418 |
|
|
0.38 |
0.31 |
hCV2931085 |
GGCGTGCCAGGCAGATGCCTCGGAGAACCCAGGGGTTTCT[C/G]TGGCTTTTTGCATGCGGCGGGCAGCTGTGCTGGAGAGCAG |
G |
G |
C___2931068_10 |
rs1366235 |
|
insulin
receptor |
INSR |
Intron |
19 |
7118715 |
0.33 |
0.24 |
0.32 |
0.24 |
hCV2931068 |
CATAGAAGCCCGGACTGGCCAGTTTCCTGGGGCAATATTC[C/T]ATTTTGCCTTGCCTGTGTATGTCTCATCAGACATCCTTAG |
G |
G |
C___3299733_10 |
|
|
insulin
receptor |
INSR |
Intron |
19 |
7131079 |
0.27 |
0.08 |
0.11 |
0.1 |
hCV3299733 |
GTTGACTGAAGGTTTGTCTGGCCTGGGCCTGTTTAGCTAC[A/G]GCTGATGGTTTAGGGGAGCCTCTTGTGTCTTTGATGGTCA |
T |
T |
C___2942384_10 |
|
|
insulin
receptor |
INSR |
Intron |
19 |
7133963 |
0.34 |
0.18 |
0.16 |
0.13 |
hCV2942384 |
TTTTGGCTTTATTGACCAAAAGGGTCTATAAATCACCTTT[G/T]CATACCAGACAGACTTTTGTTTTAGGTTTTTTTTTTTTTT |
C |
C |
C___8356190_10 |
rs1035939 |
|
insulin
receptor |
INSR |
Intron |
19 |
7139979 |
0.3 |
0.37 |
0.37 |
0.38 |
hCV8356190 |
AAGCCTAAAAATGTCTCTATCAAAGAATCTGATGTGTTAC[C/T]GACGTCATCCTGTTTATTTCTTGCAACAGCCTTAAGAAGG |
A |
A |
C___2942406_10 |
|
|
insulin
receptor |
INSR |
Intron |
19 |
7145938 |
0.35 |
0.08 |
0.08 |
0.08 |
hCV2942406 |
TTCTGTGTCATCTATGTTCTGATGCTTTTTCATTTAATAC[A/G]AGAACAGGTTTCCTATGATTTGGCACACTGGGACATTCGA |
T |
T |
C___8356199_10 |
rs1035940 |
|
insulin
receptor |
INSR |
Intron |
19 |
7150978 |
0.3 |
0.22 |
0.43 |
0.37 |
hCV8356199 |
ACACATTTGCATGTACTGTTCCTCTCCTGCTGTGATAAAG[C/G]GACAGTCACCTAATCCCCGCCCCTCCGTTGCATTTTTTCT |
C |
C |
C___8351979_10 |
|
|
insulin
receptor |
INSR |
Intron |
19 |
7184604 |
0.24 |
0.13 |
0.21 |
0.1 |
hCV8351979 |
CCTGGGTGACCCAGTGTTGCAGGGATTGGCCATCCTTGGT[G/A]TAAGGCATAGGATGTGCAGGGTAGCAGGACAGCAGAGTGG |
T |
T |
C___2931903_10 |
|
|
insulin
receptor |
INSR |
Intron |
19 |
7186450 |
0.14 |
0.02 |
0.34 |
0.4 |
hCV2931903 |
TGAAAATCTTCCGTAAGCTCTAGCGCCAGACACATGGATA[G/T]TTGCAGAATCTTATTTTCTAGAGTCCTGGAAATTTTCTTT |
C |
C |
C___2931890_10 |
|
|
insulin
receptor |
INSR |
Intron |
19 |
7202842 |
0.34 |
0.35 |
0.43 |
0.37 |
hCV2931890 |
AAATTCTATCTTATTACATAAAAAAACCACAGGTTCAGAA[A/C]AGCCACACCAAACAAATGAATAGCCTAATGGTTCACTCTA |
T |
T |
C___9477645_10 |
rs1025281 |
|
|
|
|
19 |
7346670 |
0.02 |
0.37 |
0.39 |
0.18 |
hCV9477645 |
GGATGAGGAACCCTGTCTCCCCCGAACACTGGCCAGCCTT[A/G]CTTTGAACCTGCCAGGAGGAGGGCTGAAGACCTGGACTCA |
A |
A |
C___2931853_10 |
|
|
rho/rac
guanine nucleotide exchange factor (GEF) 18|Rho-specific guanine nucleotide
exchange factor p114 |
ARHGEF18|P114-RHO-GEF |
Intron |
19 |
7371933 |
0.04 |
0.42 |
0.03 |
0.06 |
hCV2931853 |
TCCAGTAATCCCCATTGTGGATAACTTCCCAACTTACTAT[T/G]GTTTCTAAATTCAATTTTGCTCTTCAAATGAAACGTCAGC |
A |
A |
C___2837975_10 |
|
|
rho/rac
guanine nucleotide exchange factor (GEF) 18|Rho-specific guanine nucleotide
exchange factor p114 |
ARHGEF18|P114-RHO-GEF |
Intron |
19 |
7386077 |
|
|
0.38 |
0.34 |
hCV2837975 |
CCCAGGAGTGCCCAGGCGCAGGGTTAGGGAGGTGGTTTAA[C/T]GGAGCTGCCTGGAGATTCAATGGGATAAGGGATGGAACTA |
A |
A |
C___2838064_10 |
|
|
rho/rac
guanine nucleotide exchange factor (GEF) 18|Rho-specific guanine nucleotide
exchange factor p114 |
ARHGEF18|P114-RHO-GEF |
Intron |
19 |
7425462 |
0.36 |
0.2 |
0.49 |
0.37 |
hCV2838064 |
TCAGCCATGAAGTAGCCAGACTTCAGTGGCTCTGTGTCAG[T/C]TGACACCCACCAAACCAAACCAAGATGGTGCCCACTGATC |
A |
G |
C__11509765_10 |
|
|
rho/rac
guanine nucleotide exchange factor (GEF) 18|Rho-specific guanine nucleotide
exchange factor p114 |
ARHGEF18|P114-RHO-GEF |
Intron |
19 |
7428759 |
0.23 |
0.11 |
0.2 |
0.36 |
hCV11509765 |
AACGGTATGTAGTATATAACAACAGATAAACCCATCTCTG[T/C]CTTGTGCCTCAGGCCACCCAGAGCCACCGGTATTTCTAGT |
G |
G |
C___2838074_1_ |
rs2303141 |
|
rho/rac
guanine nucleotide exchange factor (GEF) 18|Rho-specific guanine nucleotide
exchange factor p114 |
ARHGEF18|P114-RHO-GEF |
Intron |
19 |
7433409 |
0.26 |
0.36 |
0.19 |
0.37 |
hCV2838074 |
AGTGCTTTATGTCTGCAAGGAGCGGCTTGGCCCAGATTAT[A/G]TCTAAGGCCCTTCTGGCTCTCACAGGCACCGGGGGGCGGT |
T |
T |
C___2838077_1_ |
rs2287916 |
|
rho/rac
guanine nucleotide exchange factor (GEF) 18|Rho-specific guanine nucleotide
exchange factor p114 |
ARHGEF18|P114-RHO-GEF |
Intron |
19 |
7434497 |
0.45 |
0.45 |
0.41 |
0.49 |
hCV2838077 |
ACACCCTTACTTCAGGTACGGCCACCAGGACAGGCCAATC[C/T]GCGTCTAAGTGAGAGGACAGGGCTGTGGGGCAGCCATGGG |
A |
G |
C___2838078_1_ |
rs2287919 |
|
rho/rac
guanine nucleotide exchange factor (GEF) 18|Rho-specific guanine nucleotide
exchange factor p114 |
ARHGEF18|P114-RHO-GEF |
Intron |
19 |
7435415 |
0.21 |
0.09 |
0.07 |
0.26 |
hCV2838078 |
AAACTGCCATCTGAGAACCCCAAGCCAGGGGCATGAGGAT[G/A]CTGCCATCCCGTGGGGAGGGGGAAGCTTCCCAGTCCACCC |
T |
T |
C___2838082_1_ |
rs2241396 |
|
peroxisomal
biogenesis factor 11 gamma|rho/rac guanine nucleotide exchange factor (GEF)
18|Rho-specific guanine nucleotide exchange factor p114|peroxisomal
biogenesis factor 11 gamma |
PEX11G|ARHGEF18|P114-RHO-GEF|MGC4281 |
Intron |
19 |
7440075 |
|
|
0.43 |
0.35 |
hCV2838082 |
ATGGCACAGGTGTCCCGAATTTCCTGGCTCCCAGCGAGCC[A/G]CTAGAGCCTGACCAGTTGCACCTTCCAGGCCCAGGCGAAG |
C |
T |
C___2838083_1_ |
rs2241397 |
|
peroxisomal
biogenesis factor 11 gamma|rho/rac guanine nucleotide exchange factor (GEF)
18|Rho-specific guanine nucleotide exchange factor p114|peroxisomal
biogenesis factor 11 gamma |
PEX11G|ARHGEF18|P114-RHO-GEF|MGC4281 |
Intron |
19 |
7440135 |
0.47 |
0.29 |
0.28 |
0.43 |
hCV2838083 |
CTGTGTGGGGTGGCCTCAGCCACGATGCCAGCTGTGCCTT[T/C]TGGTTTTCCTCTCCAGAGGATGGCACAGGTGTCCCGAATT |
G |
G |
C___8356044_10 |
rs1549256 |
|
peroxisomal
biogenesis factor 11 gamma|rho/rac guanine nucleotide exchange factor (GEF)
18|Rho-specific guanine nucleotide exchange factor p114|peroxisomal
biogenesis factor 11 gamma |
PEX11G|ARHGEF18|P114-RHO-GEF|MGC4281 |
Intron |
19 |
7450474 |
0.22 |
0.3 |
0.21 |
0.11 |
hCV8356044 |
CAGGGGGAGTGGGTGGAGAGCATTCCATGTGTGCTCATCA[C/T]GACCAGACATCTGCCCTAAGGCCCAGGGCTGCCGGAGCAT |
G |
G |
C___2838108_10 |
rs1363938 |
|
zinc
finger protein 358|peroxisomal biogenesis factor 11 gamma|peroxisomal
biogenesis factor 11 gamma |
ZNF358|PEX11G|MGC4281 |
|
19 |
7467996 |
|
|
0.15 |
0.2 |
hCV2838108 |
TTAAATAGGCTGCTGGTGTCCATTATTATTATCATCCTCT[G/A]AAGTTTTTCTGTCCCTCTACCTTCTACACACCCCACACAG |
C |
C |
C___2838112_10 |
|
|
zinc
finger protein 358 |
ZNF358 |
|
19 |
7473757 |
0.31 |
0.22 |
0.41 |
0.47 |
hCV2838112 |
ACCCAAAGGGTCCCTGGAGTCACAGAATTGGAAAATTACA[C/T]GAATGCTGGCTACTCTTTGTTAAGTGCTCTCTGCACCAGA |
A |
G |
C___3064479_10 |
|
|
mucolipin
1|neuropathy target esterase|zinc finger protein 358 |
MCOLN1|NTE|ZNF358 |
Silent
Mutation |
19 |
7499589 |
0.41 |
0.25 |
0.26 |
0.12 |
hCV3064479 |
GGCGGGGAGGACACCAGCACACATGACGCAGAAGCCTCAC[A/G]TTCTGCAGCAGGAAGCCTCGAAGGAGTGAGCGGGCGCAGA |
T |
T |
C___3064482_10 |
rs540516 |
|
mucolipin
1|neuropathy target esterase |
MCOLN1|NTE |
Intron |
19 |
7505215 |
0.3 |
0.29 |
0.18 |
0.42 |
hCV3064482 |
CGTGGGGGGTATGGGAACATCAGAAAGTCTAGAGTTAACA[A/G]GAATCGGAGGACAGATCGTGGGAAAGCGGAGGCTCGCTAA |
T |
T |
C____802162_1_ |
rs661825 |
IMS-JST059759 |
neuropathy
target esterase |
NTE |
Intron |
19 |
7522474 |
0.5 |
0.4 |
0.38 |
0.4 |
hCV802162 |
TCAGGAACACGAACTCCATTCCCCAGAATGCTCTGCACCT[C/G]GGTCCTACTTAGGGTTTGAAACCCTCAGGGGCACGATTTC |
C |
C |
C___3064508_10 |
rs538850 |
|
neuropathy
target esterase |
NTE |
Intron |
19 |
7530078 |
0.48 |
0.45 |
0.44 |
0.47 |
hCV3064508 |
CCCTCATACCACTCTGGGCTTTAAGTAGCAAAGCTTAGCC[G/A]GACCACCTATGCAGGCACCATGCCACTCCTGCCCACTCAC |
T |
C |
C___3064554_10 |
|
|
|
|
|
19 |
7561810 |
0.47 |
0.1 |
0.2 |
0.28 |
hCV3064554 |
TGTGTGAGCACAGGTGCTGATGTGGATGACGCATGCCCCG[T/G]CTCCTGTCCCAGTCCCCTCGAAGGACCTAAACAAGGTCTT |
A |
A |
C___1394097_10 |
rs1644759 |
|
|
|
|
19 |
7568529 |
0.35 |
0.45 |
0.21 |
0.23 |
hCV1394097 |
CACGCGCCCCGTGCCACGCGAAGAATTCTGTGGTCACTAC[G/A]GCTTTTACGCCTCCCAGCAACCTTGCAAAGAGGTAACGGG |
C |
C |
C___1394099_10 |
rs1155715 |
|
|
|
|
19 |
7569317 |
|
|
0.47 |
0.41 |
hCV1394099 |
ACGGGGCCACTGCATACCTGATCTTGTCAGTTCCCAACAC[C/T]GTCCGTGGCTCCCCAGTACCCTTGGATCCATAACCAGGGG |
G |
G |
C___8355917_1_ |
|
|
XPA
binding protein 2|HCNP protein; XPA-binding protein 2 |
XAB2|HCNP |
|
19 |
7581877 |
|
|
0.19 |
0.2 |
hCV8355917 |
GAGACAACAGCATCACCCAGCTGCGTCCCAGTGCTCAGCA[A/G]GGCAGACATGGAGCCCCACACCCACAATGCCAGAGACTCG |
C |
C |
C__11510454_1_ |
rs2279041 |
IMS-JST026578 |
syntaxin
binding protein 2|XPA binding protein 2|HCNP protein; XPA-binding protein 2 |
STXBP2|XAB2|HCNP |
|
19 |
7603086 |
0.31 |
0.28 |
0.23 |
0.15 |
hCV11510454 |
GCTAGAGGGGCCCAAGGTTATACAGGGGCCATGCTAGTGT[A/C]AGACCCATGGCTGGAACTTGTGGCTCCTGCCCCCAAGTCT |
G |
G |
C___3064436_10 |
rs929807 |
|
syntaxin
binding protein 2 |
STXBP2 |
Intron |
19 |
7616040 |
|
|
0.29 |
0.35 |
hCV3064436 |
|
#N/A |
#N/A |
C___8355869_10 |
rs885433 |
|
syntaxin
binding protein 2 |
STXBP2 |
|
19 |
7619507 |
0.3 |
0.32 |
0.12 |
0.17 |
hCV8355869 |
CATGAATACAGCAGAAGCTGAACACAACTCCTGGCATCGT[A/G]TGCCTACAGGTCCCCTTGGAACAGTTCTAGGGGGGTTGGA |
C |
C |
C___1394112_10 |
rs1862513 |
|
hypothetical
protein LOC199675|resistin |
LOC199675|RETN |
|
19 |
7639793 |
0.33 |
0.45 |
0.41 |
0.33 |
hCV1394112 |
GGAGGAGGAAGGGAGCCTTCCCACTTCCAACAGGGCCTCC[C/G]TCTTCATGTCCAGAGACTGGTCAGGAGGTGGTGCCCCAGG |
G |
G |
C___3172567_1_ |
rs2287867 |
IMS-JST038897 |
Fc
fragment of IgE, low affinity II, receptor for (CD23A) |
FCER2 |
Intron |
19 |
7670741 |
0.44 |
0.37 |
0.32 |
0.36 |
hCV3172567 |
GTAACTAGGGTTTGATGGCTCACCCTAACCATCATTAAAT[C/T]CCAAATCAGCCAGAGCTGTGATTGTGCCCGCTGAGTGGAC |
G |
G |
C___3172588_10 |
|
|
Fc
fragment of IgE, low affinity II, receptor for (CD23A) |
FCER2 |
|
19 |
7677742 |
|
|
0.05 |
0.08 |
hCV3172588 |
TTGGGCCCAGGGCAGAAGGGAGCCATGGATGGTTGTAGGC[A/G]GAGAGAAGATATGGGCAGGTGGTTGCCGTTCAGGGAAGAC |
T |
T |
C___8355478_10 |
rs1544766 |
|
CD209
antigen |
CD209 |
UTR
3 |
19 |
7712723 |
0 |
0.15 |
0.32 |
0.2 |
hCV8355478 |
CTCCTTCCCCGCAGCCTGTAGTATTCATCGTGGTGGCCCA[C/T]CCTCTCTCTCCCCTTGGAGCTCTTGCCAAAGGAGGAGACA |
G |
G |
C__11515683_1_ |
rs2287886 |
IMS-JST038921 |
CD209
antigen |
CD209 |
|
19 |
7718536 |
0.43 |
0.24 |
0.26 |
0.23 |
hCV11515683 |
AAAGATCCGGCCCATCTCATGCTCTGATGCTTTCCACTAG[T/C]CTTTTGGATGACAGATCCCTACCCAACTTCCTGTTTCTCT |
G |
G |
C___3172642_1_ |
rs475896 |
IMS-JST025120 |
CD209
antigen-like |
CD209L |
Intron |
19 |
7737429 |
0.44 |
0.4 |
0.19 |
0.2 |
hCV3172642 |
GCCCTTGAAAATCAGGGCCCTTCCTTGACTGTCCATGTTG[C/G]GTGGACCGCTTGGAATGGGGAGAGACCATTCCTCTCCCTA |
G |
G |
C___3172650_10 |
rs605673 |
|
CD209
antigen-like |
CD209L |
|
19 |
7742605 |
0.5 |
0.27 |
0.38 |
0.42 |
hCV3172650 |
TCATTATCACTGTAGAGATTGATGGGTTTTGGTTCCAGGC[A/G]CACACATGACTTATTCAAAAAGTAAAGTAAGACCTTCAAA |
C |
C |
C___8355559_10 |
rs584307 |
|
|
|
|
19 |
7761330 |
0.39 |
0.1 |
0.37 |
0.49 |
hCV8355559 |
TGAATGGCCGGGCGGGGGGTGATGCTGGGAATCTAAGCTA[G/A]GGATGGACCCGGGGCCCCCACTTCCTTCCCAGGCTCTAGC |
T |
T |
C___2421721_10 |
rs516453 |
|
similarto
ecotropic viral integration site 5; Neuroblastoma stage 4S gene |
LOC115704 |
Intron |
19 |
7815307 |
0.24 |
0.44 |
0.41 |
0.25 |
hCV2421721 |
ACCACAGATGGAGTTGGGGAGCAGTGAGAGCTTCAGAACC[G/A]AAGAAACCCAAGCTCAGGGCATCAGCCCCACCCAATCTCT |
T |
T |
C___2933523_10 |
|
|
similar
to ecotropic viral integration site 5; Neuroblastoma stage 4S gene |
LOC115704 |
Intron |
19 |
7815765 |
0.31 |
0.03 |
0.18 |
0.39 |
hCV2933523 |
TGGCCACCCCAGTCCTCCTGGAATAGGGTTGGGGGAGGTG[C/T]GCCATTCTTTTTTCACTGTATGGGGACCCAGAACCCTCTT |
A |
A |
C___2933520_10 |
rs1078586 |
|
similar
to ecotropic viral integration site 5; Neuroblastoma stage 4S gene |
LOC115704 |
Intron |
19 |
7821587 |
0.06 |
0.07 |
0.06 |
0.07 |
hCV2933520 |
CCAGGCCCCCTAAGGCTACAGCACCGTCCATGATCCAGGC[C/G]CAGGGAGTGGGGCTGTCACATCCAGGGATGACTGCACAGC |
C |
C |
C___2933514_10 |
|
|
hypothetical
protein FLJ22184|similar to ecotropic viral integration site 5; Neuroblastoma
stage 4S gene |
FLJ22184|LOC115704 |
Intron |
19 |
7830957 |
0.36 |
0.26 |
0.48 |
0.4 |
hCV2933514 |
ATGAGGAAAGAGTTTGTGGGTATCACCCTCTTGCTCCATG[A/C]CCTGGCTTCTCAGAAGTTCCCCAGTGGGGGCCCCTGGAGT |
T |
G |
C___2933511_10 |
rs509072 |
|
hypothetical
protein FLJ22184|similar to ecotropic viral integration site 5; Neuroblastoma
stage 4S gene |
FLJ22184|LOC115704 |
|
19 |
7836381 |
0.28 |
0.4 |
0.39 |
0.23 |
hCV2933511 |
AGTCCCTTCTTAGTCTGACCACGCCCAGGCTTTCCTGTTC[C/T]TCCTTCCTAGGTATGGTATGCCTCCTGTTGGTCTGATCTT |
A |
A |
C___2933491_10 |
rs533822 |
|
hypothetical
protein FLJ23420|mitogen-activated protein kinase kinase 7 |
FLJ23420|MAP2K7 |
Intron |
19 |
7865480 |
0.26 |
0.17 |
0.39 |
0.34 |
hCV2933491 |
TGGAACAAGGAAGGTGGGGAACCTTAGACCAGCCCACTTC[C/T]GCCAACATCCAAGTTCCCCCACTCCTGGGAGCCTCCTGTC |
G |
G |
C___2933481_1_ |
rs3745382 |
|
hypothetical
protein FLJ23420|mitogen-activated protein kinase kinase 7 |
FLJ23420|MAP2K7 |
Silent
Mutation |
19 |
7870727 |
|
|
0.48 |
0.49 |
hCV2933481 |
GGGGGAAGGTGATATCGCAGATGGCCTCCAGCCTGAGTGA[C/T]TCCACCTCACTGAGCTCAAAGACGGTGTCGGGCAGACCCG |
G |
G |
C___2933464_10 |
rs475002 |
|
mitogen-activated
protein kinase kinase 7|small nuclear RNA activating complex, polypeptide 2,
45kDa|translocase of inner mitochondrial membrane 44 homolog (yeast) |
MAP2K7|SNAPC2|TIMM44 |
Silent
Mutation |
19 |
7892638 |
0.45 |
0.26 |
0.44 |
0.4 |
hCV2933464 |
GCCTGGGGGAATGGCGGTACCTGCGAGAAAGCCACTGCCA[C/G]GGCTTCTTCCAGTGGCCCTGTTATCTTCTCAGCCAGATCC |
C |
C |
C___2933461_10 |
|
|
small
nuclear RNA activating complex, polypeptide 2, 45kDa|translocase of inner
mitochondrial membrane 44 homolog (yeast) |
SNAPC2|TIMM44 |
UTR
3 |
19 |
7898052 |
0.08 |
0.08 |
0.02 |
0.07 |
hCV2933461 |
AGCACCGAGCAGATTCTCTGAGTGTGGTGCCGGAGCCAGG[T/G]AGCCCCGGCCTGGGTCATCAGGCACAGAGGCACCGCAACA |
C |
C |
C___2933415_10 |
|
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) |
ELAVL1 |
|
19 |
7926159 |
0.24 |
0.19 |
0.02 |
0.07 |
hCV2933415 |
GAAGGAGAAACCTAGACACCTGCGTTGTCCGGAGAACCAC[G/T]GTTTGTGTTTAGTAATAGCCGAGTTCTGACATGAGAGTGT |
C |
C |
C___2933405_10 |
|
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) |
ELAVL1 |
UTR
3 |
19 |
7931491 |
0.26 |
0.22 |
0.46 |
0.48 |
hCV2933405 |
GAATTCCCTTTTGACCCGTGTGTAACTTCCTCTGGTAGTT[G/A]GACCCCAGGCAGCTCCGAATTTGTGAACCTGCTTCCTGAT |
T |
C |
C___9616574_10 |
rs952444 |
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) |
ELAVL1 |
|
19 |
7992055 |
0.48 |
0.2 |
0.34 |
0.45 |
hCV9616574 |
ATATGGAACCCTCCAGAATTCTGAGAGAGAATGGCTTTCC[T/C]CCACATCTGTCTCTAATTGACCTGGCTGCCACCTTCTCCA |
G |
G |
C___2841737_10 |
|
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) |
ELAVL1 |
|
19 |
7993406 |
|
|
0.02 |
0.07 |
hCV2841737 |
ACTCTGGAAAACGTCCCGAGCTGGCTGAGGCCAGTGACCC[G/A]TGTTATCTTGTGCGTGGTGTTAGAGAGGCTGCAATTCTGT |
T |
T |
C___2841685_10 |
|
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) |
ELAVL1 |
|
19 |
8012521 |
|
|
0.42 |
0.48 |
hCV2841685 |
CTCCCACCTCCGCTTGTCTCCTGCTGAGCCTTTGCCCTAG[C/T]AGCGCACTCTGCCTGGCAAGCCCTCCCTCTGCCCATCTCC |
A |
A |
C___8355202_10 |
|
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|chemokine (C-C motif) ligand 25 |
ELAVL1|CCL25 |
|
19 |
8021720 |
|
|
0.1 |
0.18 |
hCV8355202 |
AGGTGGGGCCGGGCCTGGTGGGTGTGGCTTCTAGCCGGGG[A/C]CGTGACTAGATAAATGACACTTAGAGCCCAGGGGCAGGGC |
G |
G |
C__11970133_10 |
rs2032887 |
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|chemokine (C-C motif) ligand 25|fibrillin 3 |
ELAVL1|CCL25|FBN3 |
Intron|Mis-sense
Mutation |
19 |
8027360 |
0.27 |
0.31 |
0.06 |
0.19 |
hCV11970133 |
GCAGAGGTCTTGCCCACCTTGGAAGGTCTGCGTGTTGTGG[C/T]GGAGCTTTGCAAAAACCTTATTTCGAGCATCCAGGAGCTT |
#N/A |
#N/A |
C___8355211_10 |
rs2113089 |
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|chemokine (C-C motif) ligand 25|fibrillin 3 |
ELAVL1|CCL25|FBN3 |
Intron|Mis-sense
Mutation |
19 |
8027369 |
|
|
0.08 |
0.04 |
hCV8355211 |
AGATGCCCAGCAGAGGTCTTGCCCACCTTGGAAGGTCTGC[A/G]TGTTGTGGTGGAGCTTTGCAAAAACCTTATTTCGAGCATC |
#N/A |
#N/A |
C___2841665_1_ |
rs2303164 |
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|chemokine (C-C motif) ligand 25|fibrillin 3 |
ELAVL1|CCL25|FBN3 |
Mis-sense
Mutation|Silent Mutation |
19 |
8028737 |
|
|
0.16 |
0.35 |
hCV2841665 |
CATTCCTCTTGCTGCTGCTGATGGGATTGCTAAACTTGGA[T/C]GATGATAACTTGGAGTTTCCAGAACTCAACTTCTTTACAG |
G |
G |
C___3098773_1_ |
rs2287937 |
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|chemokine (C-C motif) ligand 25|fibrillin 3 |
ELAVL1|CCL25|FBN3 |
UTR
3 |
19 |
8036420 |
|
|
0.34 |
0.38 |
hCV3098773 |
CAGGGGGTTGGCAGGACATGGCAATGGGCAACTGGGGTGG[C/G]CACAGGGCTTATTCCTCGGAGTAGAAGGGTGTACAGGGGG |
G |
C |
C___3098789_1_ |
rs3745393 |
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|fibrillin 3 |
ELAVL1|FBN3 |
Intron |
19 |
8049165 |
|
|
0.21 |
0.48 |
hCV3098789 |
GCATCAAAGCAGCTGGAGAGATACGTAAATGAAAGACCGT[G/A]TCTGTGTCCCAATAAACTTTATTGATACAACAGACAGTGG |
T |
T |
C___3098790_1_ |
rs3745394 |
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|fibrillin 3 |
ELAVL1|FBN3 |
Intron |
19 |
8049226 |
|
|
0.22 |
0.49 |
hCV3098790 |
AATATTTTCAGCTTTGTAGTTGAGATGGTCTCTGTCGCCA[C/T]GATTGGACTCTACCATGCTAGCATCAAAGCAGCTGGAGAG |
A |
A |
C___3098718_10 |
|
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|fibrillin 3 |
ELAVL1|FBN3 |
Intron |
19 |
8054042 |
0.28 |
0.48 |
0.18 |
0.34 |
hCV3098718 |
TCTGTGCAGCCCCTGAACTCAACTTCCCTGAGACTTTCCA[C/G]TTTGCAATGTTAGGCTTTCATTTACAAAGTGGTGCCCAAA |
C |
C |
C___3098721_10 |
|
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|fibrillin 3 |
ELAVL1|FBN3 |
Intron |
19 |
8062221 |
0.21 |
0.23 |
0.03 |
0.14 |
hCV3098721 |
TGTGACCCTTTGGGAGCTCTGACCAGGCAGAGGTGTCTGT[C/T]TGCATTAGCAGAGTTATCCTAGTGCCAGCAACCTCTTGGC |
G |
G |
C___3098722_10 |
|
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen
R)|fibrillin 3 |
ELAVL1|FBN3 |
Intron |
19 |
8062260 |
|
|
0.05 |
0.14 |
hCV3098722 |
AGGGTCAGATCGCCCAGAAAAGAGGGCTGTGGTTTCTTGT[A/G]TGACCCTTTGGGAGCTCTGACCAGGCAGAGGTGTCTGTTT |
T |
T |
C___2841632_10 |
|
|
fibrillin
3 |
FBN3 |
Silent
Mutation |
19 |
8065409 |
|
|
0.14 |
0.09 |
hCV2841632 |
ACACCAATGAGTGCCTCAGCCTTGCAGGAACCTGCCTACC[C/A]GGCACTTGCCAGAACCTCGAGGGCTCCTTCCGCTGCATCT |
G |
G |
C___1877914_10 |
|
|
fibrillin
3 |
FBN3 |
Intron |
19 |
8094935 |
0.33 |
0.41 |
0.37 |
0.28 |
hCV1877914 |
ATGGGAGTGACTGAGCGGCACGCCTGTCCCGCAGTGGGCA[C/T]AGTGTGGCAGGGGTGGGGACGCAGTGACTGTCCCCCGTGC |
A |
A |
C__25471812_10 |
|
|
fibrillin
3 |
FBN3 |
Intron |
19 |
8113070 |
0.48 |
0.34 |
0.44 |
0.45 |
hCV25471812 |
GCAGGGGCCGCTGAGAAGGTGTTAGAGACGCAGAGATCTC[C/T]AGACAGGGGCAGCCCTCAGCCAGGTACCCACATCTGTCTG |
A |
G |
C___1877959_10 |
|
|
fibrillin
3 |
FBN3 |
|
19 |
8121246 |
|
|
0.07 |
0.1 |
hCV1877959 |
TTCAATAGAGTAAACTCACAATTTGCGGATAGGGAGGGAA[G/T]TTTTGAACTGGACTTTGACAGATGCGTAGGAGTTTGCTGG |
C |
C |
C___1877795_10 |
|
|
LAG1
longevity assurance homolog 4 (S. cerevisiae)|hypothetical protein FLJ12089 |
LASS4|FLJ12089 |
Intron |
19 |
8184956 |
|
|
0.18 |
0.2 |
hCV1877795 |
GGGAGGGAAAGCTGAGCTGAGCTCCAGGCGGTTCAGTGTG[C/T]GTGTGTGTGACAGCATCCTATTAACAAAGGTATAAAGTCC |
G |
G |
C____917517_1_ |
rs28334 |
IMS-JST063741 |
LAG1
longevity assurance homolog 4 (S. cerevisiae)|hypothetical protein FLJ12089 |
LASS4|FLJ12089 |
Intron |
19 |
8227182 |
0.19 |
0.24 |
0.26 |
0.32 |
hCV917517 |
CTGTGATCATCGCCCTCACCCTCCAAGCATTCACACACAC[A/T]CTGCCACTCACCTGGTTTGGGTACCTGTCCCAGCACATTA |
T |
T |
C____917548_1_ |
rs250511 |
IMS-JST013506 |
8D6
antigen|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa |
8D6A|NDUFA7 |
Intron |
19 |
8273504 |
0.13 |
0.03 |
0.13 |
0.14 |
hCV917548 |
TGTGGGGGCTCTTGCCTTCCCCCTCCTTACTCCTCTGTCC[T/A]TCTGTTCCCCACAGCGGTGCTCAGTGCAAGCCTGGTCACC |
A |
A |
C___8355370_10 |
rs561 |
IMS-JST025454 |
8D6
antigen|ribosomal protein S28|NADH dehydrogenase (ubiquinone) 1 alpha
subcomplex, 7, 14.5kDa |
8D6A|RPS28|NDUFA7 |
Mis-sense
Mutation |
19 |
8282431 |
0.17 |
0.03 |
0.22 |
0.09 |
hCV8355370 |
TAGCTGCCACTGAGAAGAAGGCGGTGACTCCAGCTCCTCC[T/C]ATAAAGAGGTGGGAGCTGTCCTCGGACCAGCCTTACCTGT |
#N/A |
#N/A |
C__15878645_10 |
rs2288414 |
|
8D6
antigen|ribosomal protein S28|NADH dehydrogenase (ubiquinone) 1 alpha
subcomplex, 7, 14.5kDa |
8D6A|RPS28|NDUFA7 |
Intron |
19 |
8291652 |
0.01 |
0.39 |
0.11 |
0.14 |
hCV15878645 |
ACCAAAAACGAAATCTGTGTTCCTTTAGACCCCTGAAACG[C/G]AGGGCTGACATCCTGCCACCAGTCCCCTGCCAGGCTGTGG |
#N/A |
#N/A |
C__25602331_10 |
|
|
8D6
antigen|ribosomal protein S28|NADH dehydrogenase (ubiquinone) 1 alpha
subcomplex, 7, 14.5kDa |
8D6A|RPS28|NDUFA7 |
Intron |
19 |
8292662 |
|
|
0.11 |
0.14 |
hCV25602331 |
CTGTGATGAAATGAGAATCGGCTCCCGGATTCCGGCTGGC[A/G]GGGGTTAGGGCAGGGTAGAGGTCACATCAGGGTTTAGGTC |
C |
C |
C___2931786_10 |
|
|
FLJ46061
protein |
FLJ46061 |
Intron |
19 |
8313470 |
0.1 |
0.11 |
0.09 |
0.06 |
hCV2931786 |
CCTCCTGGAAGGCGCCCTCTCCCCAGGACTGGGATCCTCA[C/G]TGGCCTGCCGTGGCCCCCACCACTCCGGTTTGGTGATCAC |
C |
C |
C___3171439_10 |
|
|
heterogeneous
nuclear ribonucleoprotein M |
HNRPM |
Intron |
19 |
8419894 |
0.36 |
0.06 |
0.47 |
0.49 |
hCV3171439 |
AGGCCCTCCTGACTCCCAGGCAGCTTGCTGCTTTCATGAT[C/A]CTACCTTGGTAACCACTCAGTAAACAGCCGTTTGAATTGT |
C |
A |
C___3171432_10 |
rs563320 |
|
heterogeneous
nuclear ribonucleoprotein M |
HNRPM |
Intron |
19 |
8423386 |
0.4 |
0.06 |
0.12 |
0.09 |
hCV3171432 |
GCAGATAGATTTTGTTTGGCAGACTTTGGTGAAGGACTTT[C/A]TTTTGGAGTAGACAAGTGGCCTGGGTAACAGTTGTAGGTC |
A |
A |
C___1998540_10 |
|
|
PRAM-1
protein|heterogeneous nuclear ribonucleoprotein M |
PRAM-1|HNRPM |
Intron |
19 |
8454589 |
0.29 |
0.06 |
0.48 |
0.49 |
hCV1998540 |
AAAGTATGGTCTGAAACCCCATCGCCCAGTGATGACTGCC[A/G]GAAACATTTTGTTCTGAATCTTTCATTCATACACAGCTTT |
A |
G |
C___1998537_1_ |
rs2277987 |
IMS-JST025108 |
PRAM-1
protein|heterogeneous nuclear ribonucleoprotein M |
PRAM-1|HNRPM |
Intron |
19 |
8458273 |
0.33 |
0.07 |
0.48 |
0.5 |
hCV1998537 |
CAGAGTCTTCCTTCTGAGGTTACCTGGCTTCTAGGTGGCA[A/G]GGCTAAATAAATACATCCCAGACGAGGTCGCTTTCCCCTC |
G |
A |
C___1998532_1_ |
rs2303110 |
IMS-JST059662 |
PRAM-1
protein|heterogeneous nuclear ribonucleoprotein M |
PRAM-1|HNRPM |
Intron |
19 |
8461886 |
0.25 |
0.27 |
0.48 |
0.47 |
hCV1998532 |
TGGCAACTGCTGTGGCTGGGGATCCTTCTCCTTCCTGATA[C/G]CCCCCACCAAGGAATTGTGTGCTCGTGAGCAAGTTGTGCT |
G |
C |
C___8355422_10 |
rs1609712 |
|
PRAM-1
protein|hypothetical protein MGC15716 |
PRAM-1|MGC15716 |
Intron |
19 |
8472634 |
0.17 |
0.45 |
0.19 |
0.21 |
hCV8355422 |
CAGAGATGCCTGGAGACGGCCATGCGGTCCCTCTCACACC[A/G]TCTCTGACATGCGGGCTGATGGTCAGGAATGCTCACAGTT |
A |
A |
C___2931686_10 |
rs2967590 |
|
myosin
IF |
MYO1F |
Intron |
19 |
8499722 |
0.09 |
0.2 |
0.24 |
0.21 |
hCV2931686 |
CAGGTAAATAGGAGTATCTGGATCATGAGAGGAAGTGAGC[C/G]GGTGTGTATCTGAACTCTATGAGTTTGTACAGGAAGGCAG |
C |
C |
C___3171056_10 |
|
|
myosin
IF |
MYO1F |
Intron |
19 |
8516894 |
0.09 |
0.05 |
0.11 |
0.24 |
hCV3171056 |
CGCTCTATGAAGCCTCCTCGAGTCCCAGTGCAGTTGCATT[T/C]CGGTTGTCCACAGCATAACGTGCTCATTAACACACTATTT |
T |
T |
C____446989_10 |
|
|
a
disintegrin-like and metalloprotease (reprolysin type) with thrombospondin
type 1 motif, 10|myosin IF |
ADAMTS10|MYO1F |
|
19 |
8548160 |
0.46 |
0.34 |
0.23 |
0.28 |
hCV446989 |
TTTTAGGACACCTCCACCTGGCTGGTGTCCCTCCTCTTTC[T/C]TCTTCCAGATCCCACCCTTGAAGGACTTACCATGGTGGGG |
T |
T |
C____120696_10 |
|
|
a
disintegrin-like and metalloprotease (reprolysin type) with thrombospondin
type 1 motif, 10 |
ADAMTS10 |
Intron |
19 |
8560916 |
|
|
0.48 |
0.44 |
hCV120696 |
CTGGGGGCAGGAGAGGAGAGATGGAGGGAGGCCAGGCTTG[G/A]GGGGATGGAGTCAGAAAAGGGGTGCTCAGAGAAAGATGGG |
A |
G |
C____173142_10 |
|
|
a
disintegrin-like and metalloprotease (reprolysin type) with thrombospondin
type 1 motif, 10 |
ADAMTS10 |
Intron |
19 |
8566004 |
0.41 |
0.23 |
0.16 |
0.14 |
hCV173142 |
GCTGAGACTGTGAGGAGCTTAGGGGTGCATTTAGGGAATC[G/A]AGGCAGGTGGGCAGAGGAGGAGCAGATCCTGGCTGAACCT |
G |
G |
C____514905_10 |
|
|
a
disintegrin-like and metalloprotease (reprolysin type) with thrombospondin
type 1 motif, 10 |
ADAMTS10 |
Intron |
19 |
8578076 |
0.36 |
0.36 |
0.13 |
0.17 |
hCV514905 |
CCACCCATGCATCTACTGTCCTGGGCCCTGTCTTTGGATT[C/A]TCTGAAATGGGTAGCACCATTCAAGCCAGATTTTTAAAGC |
C |
C |
C___2421246_10 |
rs301409 |
|
hypothetical
protein MGC33407 |
MGC33407 |
|
19 |
8676249 |
0.25 |
0.14 |
0.14 |
0.12 |
hCV2421246 |
GCTGATACCAATAACACCTGAACACAGGTGATGGGAGGAC[A/G]CACACATGAGGGTGGAACTGTCTGTATCACGTCTGAATCC |
C |
C |
C___2931664_10 |
rs36245 |
|
|
|
|
19 |
8692793 |
0.36 |
0.12 |
0.14 |
0.16 |
hCV2931664 |
GTTCCAAACTCTCACCCCCAGTCACCAAGGTCTGTGTGCA[G/C]ACAGAGTGATGGATCCCTCTCAATGCCCCATGAGCATGTC |
G |
G |
C___3171059_10 |
rs36243 |
|
|
|
|
19 |
8695276 |
0.37 |
0.09 |
0.11 |
0.16 |
hCV3171059 |
CCACTAAGTTATGATTTCTGGCTAATGGGTGATCATGTCC[C/T]ACCCTGGTCTGGTAGAGAAGCCACACTTGCCAACCCTCAG |
A |
A |
C___2000948_10 |
rs250319 |
|
zinc
finger protein 558|hypothetical protein FLJ30932 |
ZNF558|FLJ30932 |
|
19 |
8776960 |
0.05 |
0.26 |
0.08 |
0.06 |
hCV2000948 |
CCTGTTGAGATTCTCATGATTGTATTGGGGGAAGGCTGTG[G/A]TATCCTTGCTGGGGATATTTGTGTCTGCTCTTGGGGAGAC |
T |
T |
C___2109364_10 |
rs168741 |
|
zinc
finger protein 558|hypothetical protein FLJ30932 |
ZNF558|FLJ30932 |
|
19 |
8777163 |
|
|
0.23 |
0.44 |
hCV2109364 |
GGGGGGTCACTTGAAGTTCTCATCTGATGGAATCCTCATT[A/G]TGTTGAGGGGTGTAACTAAGAGGCTGGAGGTACGAGCTCC |
C |
C |
C___2000986_1_ |
|
|
methyl-CpG
binding domain protein 3-like 1|mucin 16 |
MBD3L1|MUC16 |
Silent
Mutation |
19 |
8814801 |
0.01 |
0.08 |
0.1 |
0.06 |
hCV2000986 |
GAGTGGGTATCTCGCAGCTCCTCTGCAAACAATTTCTGGT[C/T]ACTGAGGAAGATATCAGGAAACAGGAAGGGAAAGTGAAGA |
A |
A |
C___2000982_10 |
rs1035442 |
|
methyl-CpG
binding domain protein 3-like 1|mucin 16 |
MBD3L1|MUC16 |
|
19 |
8822981 |
0.01 |
0.07 |
0.1 |
0.06 |
hCV2000982 |
TCCTTGCTCACCAGGACACCGCAGATCAGGCATGTGATGA[C/G]TCCCAGGAGTCCTGCCAAGCCGATGAGGATGACAGCCCAG |
G |
G |
C__11970385_10 |
|
|
mucin
16 |
MUC16 |
|
19 |
8829549 |
0.45 |
0.49 |
0.36 |
0.42 |
hCV11970385 |
CCACCATTGGAAATGATACCTCTCATTGAAAAGCACAGTT[A/C]GGCTGCTAGATTCTAAGTAATCTGGTTTTAGTCCCCTCCT |
T |
G |
C___2000963_10 |
|
|
mucin
16 |
MUC16 |
|
19 |
8837921 |
0.45 |
0.28 |
0.26 |
0.5 |
hCV2000963 |
CGTCTGCAACTGAGGGCTGGTCTGAGACTAGATCAGACTG[C/T]GCTCATTATTAACTAGTGTGGCCATCCAAGTCAGAAGCTA |
T |
T |
C___7754054_1_ |
|
|
mucin
16 |
MUC16 |
|
19 |
8843084 |
0.01 |
0.15 |
0.08 |
0.03 |
hCV7754054 |
TGCCAAGACTTGAACCCCAAGTCTTTCCCTAGAGAACCGG[G/C]AAACAGACACCCTCCTGGACTGCAGTGGGGGCTGGGGGGT |
G |
G |
C__11515524_10 |
|
|
mucin
16 |
MUC16 |
|
19 |
8882275 |
0.34 |
0.43 |
0.21 |
0.45 |
hCV11515524 |
CAATAGACTTATCTTTCAATATATGCAGAATTTAAATTGA[C/G]TGACAAAATATTTTCCATGCCTCCCTTGCCTATAATAATA |
C |
C |
C__11966008_10 |
rs1862463 |
|
|
|
|
19 |
8885758 |
0.21 |
0.1 |
0.28 |
0.15 |
hCV11966008 |
GCACATGACAGAATTTTCAAAGGCCAGGCAGGGAGTGTGA[T/C]CTCTAGTTAGAGATTAGAGGCTGCCCAGCAAGGGGGAAGA |
T |
T |
C___2000931_10 |
rs1833777 |
|
|
|
|
19 |
8919907 |
0.31 |
0.48 |
0.47 |
0.46 |
hCV2000931 |
TGGTGGTTTCCACATGGGACGCTGCTGTATTTTCAAAAAC[C/G]TGAATTGCCTCTGTCTCCGTGGTGGCTTTAGAAGCGGCCA |
G |
G |
C__11695724_10 |
|
|
|
|
|
19 |
9074132 |
0.45 |
0.23 |
0.28 |
0.37 |
hCV11695724 |
CACTGAAGCCACTGCAGTCTTCCTAGGTGAGTCAGTAACC[A/G]CAGAACTAATGTACACCCCCAAACCTGCCCCATAGAACAA |
A |
A |
C___9327866_10 |
rs1036224 |
|
|
|
|
19 |
9089196 |
0.25 |
0.31 |
0.19 |
0.15 |
hCV9327866 |
TATCAGCATCTCTCCAAGTGCTTATTAAAAATTCTCATAC[C/T]TCACACATTTCTCAGAGATTTAACACCAGTAGTTCTCGGG |
T |
T |
C___9327843_10 |
rs4395187 |
|
|
|
|
19 |
9093773 |
|
|
0.19 |
0.21 |
hCV9327843 |
AGGCATTCTGGCTCACCAGTATTTCTGTGTCTTTGACCCA[C/T]TTTGAATCCCAAGTCCAAAGTGGACAACATAATCAGGAAG |
T |
T |
C___9327800_10 |
|
|
zinc
finger protein 317 |
ZNF317 |
Intron |
19 |
9114139 |
0.42 |
0.23 |
0.3 |
0.18 |
hCV9327800 |
GGAATTGTCATTTGTGTCTGCCGAAGGCTTTTCTGTCGAA[G/T]AGTTTTTATTAGGTCAAGGAAGCTCCCCTCTTTTCCTACT |
G |
G |
C___9327793_1_ |
|
|
zinc
finger protein 317 |
ZNF317 |
Intron |
19 |
9128646 |
0.28 |
0.5 |
0.3 |
0.17 |
hCV9327793 |
GTAGCATCTGTTTCCCTCATGCTTGCAAAATCTCAGGCCC[A/T]TGCTCAGCCCCAGAGACGGGGGGAAATAAAGGGCAAAGCT |
A |
A |
C___8728912_10 |
rs10129 |
|
zinc
finger protein 317 |
ZNF317 |
UTR
3 |
19 |
9134800 |
0.4 |
0.21 |
0.33 |
0.43 |
hCV8728912 |
TCACAGCCCTGGCCACTGACAGATCAGCAGATGTCACCAC[A/G]TGGGCTTCTGAGAAAGCTCTTGAATGGGGATCGTTCTTAA |
G |
A |
C___9327770_10 |
|
|
zinc
finger protein 317 |
ZNF317 |
|
19 |
9143176 |
0.31 |
0.18 |
0.29 |
0.22 |
hCV9327770 |
CCCCAAGTGAAAATGCTGAACGTTCAGCAAGCCTTGGTCA[A/G]AAGTTTTCCTAGGCTCACTAGTGAAGAAATAGCAATTACT |
G |
G |
C__11695860_10 |
|
|
|
|
|
19 |
9171388 |
0.44 |
0.2 |
0.34 |
0.39 |
hCV11695860 |
ATTGATTAAGCAGATCATGGGGGCTCCCTGTGGGATCTAT[T/G]TGTGATGGATGCATAAAGTAAAGGCAACGTGTATTCTAGA |
G |
G |
C___2654326_10 |
|
|
|
|
|
19 |
9204720 |
0.29 |
0.4 |
0.28 |
0.36 |
hCV2654326 |
CACTCTCCACTCTCCATCTCACTGGTCTCTCAAGTCCCAA[A/T]TACTAAGCTCTCTGAGTCACGTGCAACCAGGCATTTCATC |
A |
A |
C___2654327_10 |
|
|
|
|
|
19 |
9204855 |
0.31 |
0.22 |
0.31 |
0.36 |
hCV2654327 |
AATCTTCTTCTCTTAGCTCCAAGATTCCTATTTCAGAACC[C/T]AACTTCCTAGACTAAATTCGTCTTCTATGATGTTTTTCTG |
T |
T |
C___9319911_10 |
|
|
|
|
|
19 |
9207762 |
0.11 |
0.49 |
0.34 |
0.32 |
hCV9319911 |
GGGGAGACTCCTTAGCAGGGCAGCCTCTTGTCTCTTACGG[G/T]ACACAACCTCAGAACTAAGAGGATGCTATGGGTCCCTTAA |
G |
G |
C___2654337_10 |
|
|
|
|
|
19 |
9215461 |
|
|
0.42 |
0.45 |
hCV2654337 |
AAAGTGCAAGTTGTAAAAGTTTATGGATTCACCTCAGAGG[G/T]TTTATCTGAGAAGTTGCCTCAAGCAGTTAGAAGATACAGC |
G |
G |
C____161755_1_ |
rs2240927 |
IMS-JST012642 |
|
|
|
19 |
9223343 |
0.29 |
0.27 |
0.48 |
0.44 |
hCV161755 |
TCTTCTGTGACCCTTCTCAACTCCTCCACCTTAGGTGTTC[T/C]GACACCTTCATCAATGAAATGGTCATATATTTCATGGGTG |
C |
C |
C___2654349_1_ |
rs917707 |
IMS-JST012644 |
|
|
|
19 |
9223799 |
0.13 |
0.38 |
0.43 |
0.42 |
hCV2654349 |
CACCTAGGCCTGCAAATTCTGCCTCCTTGGTCACATTATT[T/G]TGGTTGCTTGATGGCTTTCATTCCTCTCTGGGTTTCGTAT |
G |
G |
C____172847_10 |
|
|
|
|
|
19 |
9238716 |
0.39 |
0.23 |
0.41 |
0.48 |
hCV172847 |
GATAAGAAAGCTTTGTTGCACATAATCATAGGCCTTCAGC[A/G]ACCACACAGCTATCGATAATGTGTAATGCATGTGTCATCA |
A |
G |
C___2654358_10 |
|
|
|
|
|
19 |
9254110 |
|
|
0.44 |
0.44 |
hCV2654358 |
ATCTCTTTTCCCTATTTCCCTCAACACTTACTGAGCTATG[A/C]AGGTTTGACAATGTGGACCCACCACAGGAGCCACCTTGTG |
A |
C |
C__11454373_10 |
rs2033482 |
|
|
|
|
19 |
9279184 |
|
|
0.46 |
0.37 |
hCV11454373 |
ATAAAAAATGTAGCACATTATAGGGATAAGGAGACACGTA[A/C]CATATTTATCTTTAGCAAGTCAGGACAGGTAATGTGGCAG |
A |
C |
C___9919225_10 |
|
|
zinc
finger protein 559|hypothetical protein MGC13105 |
ZNF559|MGC13105 |
Intron |
19 |
9299867 |
0.47 |
0.44 |
0.5 |
0.31 |
hCV9919225 |
AATGACACTGATATATTATTTGTTGTAGCAACATTACCAG[C/A]TGACTAGTATTACTACCATTACTTTATTTAGTATTGAGTT |
A |
C |
C___9919189_10 |
|
|
zinc
finger protein 559|hypothetical protein MGC13105 |
ZNF559|MGC13105 |
Intron |
19 |
9304332 |
0.43 |
0.46 |
0.49 |
0.34 |
hCV9919189 |
TCTGTGGATGGATTCATCACTGTGAATTCTGTAACTGAGA[T/C]GTCTCAGAATTCTAATGTGGTCAATCAGTCCACACTCTGC |
T |
C |
C__11454377_10 |
rs1865040 |
|
zinc
finger protein 559|hypothetical protein MGC13105 |
ZNF559|MGC13105 |
|
19 |
9318246 |
|
|
0.5 |
0.3 |
hCV11454377 |
ATAAAAATAGTTCTCACATTCCATTCAACCTATACAGTTA[T/C]AGGCTGTGAGCCACATTTGGTCTTGATGTGGCTGTACCTT |
C |
C |
C___9919071_1_ |
rs2278406 |
IMS-JST025688 |
zinc
finger protein 177 |
ZNF177 |
|
19 |
9334229 |
0.45 |
0.16 |
0.5 |
0.31 |
hCV9919071 |
ATATAGATGTGAGTCAAACCCTGTTGGGCCAAACAGGATC[G/T]CCTTTGTTGGCGGATAATTTCAAGTGCTCACAGAGACCCT |
G |
G |
C___9919060_10 |
|
|
zinc
finger protein 177 |
ZNF177 |
Intron |
19 |
9339628 |
0.43 |
0.29 |
0.49 |
0.33 |
hCV9919060 |
ATAAGTTATCTATACCTGAAATAATGCAAACATTAGTGAC[A/G]AATTACATTGAAGTGTAGTTTAAGTAACCAGTCTTCATAA |
A |
G |
C___2883982_1_ |
rs2241356 |
|
zinc
finger protein 266 |
ZNF266 |
Silent
Mutation |
19 |
9385185 |
|
|
0.49 |
0.31 |
hCV2883982 |
GGATCCGCATGTGAAGGTTAACACACGTGGGAAACTTAAA[G/A]GCTTTGCCACATTCCATACACGTGAATGGTTTTTTGGCGC |
A |
G |
C___2883943_10 |
|
|
zinc
finger protein 266 |
ZNF266 |
|
19 |
9407351 |
0.47 |
0.49 |
0.5 |
0.33 |
hCV2883943 |
AACCTCAGCCGAGCTGAACAACCTCAGGCAGAGAGATTCT[G/T]GTTTACTCCCCAGTGGCTACGGAGACGCCTTGGAGGCCTT |
G |
T |
C__11696041_10 |
|
|
|
|
|
19 |
9425428 |
0.5 |
0.23 |
0.4 |
0.43 |
hCV11696041 |
TGAATTCATTCCAAAACATGAAAATAAAATCCCATAACAA[C/T]GGCAACAAATAATCCAGATTCAGCTGATTCTGCCAGTGAA |
C |
C |
C___2883874_10 |
|
|
zinc
finger protein 560|hypothetical protein FLJ31986 |
ZNF560|FLJ31986 |
Intron |
19 |
9442467 |
|
|
0.44 |
0.45 |
hCV2883874 |
AGACCGGGAGCTCATCTCATTTGATTCCTCTCTACTGCAA[A/T]ACACTCCTGAGCACATAACAAATACTTGATAAATGAGGAT |
T |
T |
C___2885371_10 |
|
|
|
|
|
19 |
9713027 |
0.18 |
0.08 |
0.47 |
0.49 |
hCV2885371 |
GGTCAGGTGACAAAGAACTACATAAGCCAGTGAAGGCACC[A/G]ACATAGAGATCCCAGACCCTGGCAGTACGTTTGCCTGGAA |
A |
A |
C___2885187_10 |
rs2233678 |
|
ubiquitin-like
5 |
UBL5 |
|
19 |
9806179 |
0.2 |
0.21 |
0 |
0.06 |
hCV2885187 |
CCACGGGCTCTGCAGACTCTATTTTAAGTTGGCTAAAACT[G/C]AGCCCATCTCCTCCCACCTGCACCTCCTCCGTGTTCTTAT |
C |
C |
C___8726228_10 |
|
|
protein
(peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1 |
PIN1 |
Intron |
19 |
9812916 |
0.13 |
0.09 |
0.23 |
0.17 |
hCV8726228 |
CCACCCGTTAGTCTTATATGTAAGCATGGCAGAGAGAAGC[T/C]GAGTTCTTGCACAGAATCTTGAAGGCTGATTGAAGAGCCA |
T |
T |
C__11458125_10 |
rs1985604 |
|
protein
(peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1 |
PIN1 |
Intron |
19 |
9813743 |
|
|
0.1 |
0.14 |
hCV11458125 |
CAGGTGCACCTGGTAAGTAGCCAGGCCCTGAGGCGTCACC[A/G]TAGGTACCTGCAGATTCTGGAATGTCAGCAGGAGCCTTGC |
A |
A |
C___2404922_10 |
rs730554 |
|
olfactomedin
2|protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1 |
OLFM2|PIN1 |
|
19 |
9822546 |
0.34 |
0.34 |
0.4 |
0.47 |
hCV2404922 |
ACTGGTCGTCTCTCTGTCCTGTGCATTTTGGGAGTCCTCC[G/A]GTTCTGAGAGTCCTCCGGTTCTGAGTGTGACCACCTGCCC |
A |
G |
C___2885164_10 |
|
|
olfactomedin
2 |
OLFM2 |
Intron |
19 |
9847524 |
0.48 |
0.13 |
0.29 |
0.34 |
hCV2885164 |
TGAATTAGCAGTTTTATTTCCTGTCCCTCTGAATAGCTCA[A/G]TAGCTACCACGGGGACCAAAAGCCTGCCTTGGGTACACAG |
G |
G |
C___2885137_10 |
|
|
olfactomedin
2 |
OLFM2 |
Intron |
19 |
9878135 |
0.38 |
0.26 |
0.43 |
0.28 |
hCV2885137 |
CCTCTATGTGTCTCTGGCCCCTGAGTATCGCAGAAATGAC[C/A]AGACAAGAAAGAGCGCGCCCAAGAGCTGCTCAAACCTTAG |
A |
A |
C___2885124_10 |
|
|
olfactomedin
2 |
OLFM2 |
Intron |
19 |
9888470 |
0.39 |
0.27 |
0.4 |
0.24 |
hCV2885124 |
TAACTCCTTGCCTCCCACCTCCCCAACGTTTCCAAAACTC[T/C]TCTCACCAAAGGTGCCAATTTGCCAGGTCCACACCCTCAT |
T |
T |
C___2885083_10 |
rs889130 |
|
collagen,
type V, alpha 3 |
COL5A3 |
|
19 |
9924445 |
0.2 |
0.1 |
0.27 |
0.3 |
hCV2885083 |
AACATGACCTGCAGCCGTGGCAGGGGTGACAAGAGAAAAG[T/C]CTGACTTTGAGGGTCCTTGGTTCTGATATATAATTGTGTG |
C |
C |
C___8726014_10 |
rs889129 |
|
collagen,
type V, alpha 3 |
COL5A3 |
UTR
3 |
19 |
9931954 |
0.12 |
0.26 |
0.13 |
0.13 |
hCV8726014 |
CCCCAGCCCCCAGCACCCTGGAAAGGAGAAGGAATGACTG[T/A]CCGTGATGAGCGAAGTCACATCCCATTGGCTCCATAGTCA |
T |
T |
C___2885040_1_ |
rs2287818 |
|
collagen,
type V, alpha 3 |
COL5A3 |
Intron |
19 |
9939802 |
|
|
0.06 |
0.1 |
hCV2885040 |
AAAGGACATCGGGTCAGTATTGGTGGGGTACACCCTATTG[T/C]CCTGACACATCCCCCAGACAAGCCTTCAATCCTACCAAAG |
T |
T |
C___2884992_1_ |
rs2287807 |
|
collagen,
type V, alpha 3 |
COL5A3 |
Intron |
19 |
9958667 |
|
|
0.49 |
0.32 |
hCV2884992 |
TGTGCGGGGGTGTGCAGGGAAGGCCAAATTTCCAAGTAAG[C/T]GATTCCCATCTCCTGGAGACGCTTTGTCCACAGTTCCTTC |
C |
T |
C___2884983_1_ |
rs2287804 |
|
collagen,
type V, alpha 3 |
COL5A3 |
Intron |
19 |
9961061 |
|
|
0.5 |
0.32 |
hCV2884983 |
GGCCCTCATGTCCTGGGTGACCCTGGGGAAGAAACATTCT[C/A]AGTTGTCAGAGACCAAAACTTGCCATTCCAATTCCCAAGG |
A |
A |
C___2404921_1_ |
rs2010448 |
|
collagen,
type V, alpha 3 |
COL5A3 |
Intron |
19 |
9964583 |
|
|
0.49 |
0.33 |
hCV2404921 |
AGTCCTCGTGGACCCTGCAAGGGAGCAGGCGAATTATTTC[T/C]ACATCACCTCTGTGTGGCCATGTGAGCTCTAGGGGTCCTA |
C |
T |
C___2884947_10 |
|
|
collagen,
type V, alpha 3|retinol dehydrogenase 8 (all-trans) |
COL5A3|RDH8 |
Intron |
19 |
9977703 |
0.33 |
0.16 |
0.08 |
0.13 |
hCV2884947 |
TGGGTGGGCAGAGGGAACAAGGCAGCTCAGAGGGCCCAGC[A/G]GTGCCTCCCTCCGGGGAGGTACCCAGGCCTCCTACTCCAA |
G |
G |
C___2884930_10 |
rs889121 |
|
collagen,
type V, alpha 3|retinol dehydrogenase 8 (all-trans) |
COL5A3|RDH8 |
Intron |
19 |
9986121 |
|
|
0.38 |
0.35 |
hCV2884930 |
TGCTGGAGGCTAATGTTTATGGAGCTTTTACAATGCACCA[A/G]GCTGCATTCTAAGTGCCCTGAATCCAGGAAGTCATTTAAT |
A |
A |
C___2884917_10 |
rs1644731 |
|
retinol
dehydrogenase 8 (all-trans) |
RDH8 |
Mis-sense
Mutation |
19 |
9992999 |
0.38 |
0.36 |
0.5 |
0.42 |
hCV2884917 |
GTCACCGAGTTTGAGGGGAAGCTTCTGGCGCAGGTTTCTA[T/C]GGCTGAGTTCCCAGGCACTGACCCTGAGACCCTGCACTAC |
C |
T |
C___2404914_1_ |
rs747574 |
|
retinol
dehydrogenase 8 (all-trans) |
RDH8 |
Silent
Mutation |
19 |
9993290 |
|
|
0.38 |
0.39 |
hCV2404914 |
GCCGACAGACCAACATCCGCTACTCGCCGCTGACCACGCT[C/T]AAAACCGTGGATTCCTCTGGCAGCCTGTATGTGCGAACGA |
T |
T |
C___8726272_10 |
rs1551569 |
|
|
|
|
19 |
10010726 |
0.36 |
0.27 |
0.42 |
0.5 |
hCV8726272 |
GGGTGGGGGGTGGTGGTGGATCCTGGACACTGGGGTTACA[T/C]GGTGTGCTGAAGTCCTGGGGGCATGAGCCACCAGGGCCCT |
C |
C |
C___1142311_10 |
|
|
|
|
|
19 |
10017898 |
0.33 |
0.26 |
0.24 |
0.22 |
hCV1142311 |
GTGAGTTCAATATGAGGCTTCAGAAAGGGCACAGATAAGG[T/C]ACTAGGCATAGAATCTACCACAGAGTAATTGCTAAATAGT |
T |
T |
C___1142214_10 |
|
|
|
|
|
19 |
10026932 |
0.23 |
0.04 |
0.48 |
0.31 |
hCV1142214 |
TGTCCCTCAAAGCCCTGCTCTGTTTCCCCAGGCTACACTC[A/G]GATGCTGACCCACCGGAGTTCAGACGGCACCTACCACACC |
A |
A |
C___1142241_10 |
|
|
|
|
|
19 |
10042347 |
0.38 |
0.29 |
0.14 |
0.19 |
hCV1142241 |
CCAGCTCACGAGTGATGTGGAGAGGTACGCCTTTCAGTAC[A/G]AAACCAAGACAAGTACCAGCGACAGCACTGTTGTCCTCTA |
G |
G |
C___1142275_1_ |
rs2305792 |
IMS-JST063204 |
eukaryotic
translation initiation factor 3, subunit 4 delta, 44kDa|peter pan homolog
(Drosophila)|purinergic receptor P2Y, G-protein coupled, 11|angiopoietin-like
6|angiopoietin-related protein 5|peter pan homolog (Drosophila) |
EIF3S4|PPAN|P2RY11|ANGPTL6|ARP5|PPAN |
Intron |
19 |
10082151 |
0.36 |
0.19 |
0.29 |
0.41 |
hCV1142275 |
TGGGTGTGGAGCTGCACCCGGATCTTGGTGACCCGCGTCT[C/G]TTGGCTCAGTGAGCAAGACGGAGGAGGAGCTGCAGGCCAT |
G |
G |
C___1142276_10 |
|
|
eukaryotic
translation initiation factor 3, subunit 4 delta, 44kDa|peter pan homolog
(Drosophila)|purinergic receptor P2Y, G-protein coupled, 11|angiopoietin-like
6|angiopoietin-related protein 5|peter pan homolog (Drosophila) |
EIF3S4|PPAN|P2RY11|ANGPTL6|ARP5|PPAN |
|
19 |
10083195 |
0.5 |
0.41 |
0.27 |
0.35 |
hCV1142276 |
CCCCAGTCCCACCAAAGAGCCGTGCAAGCAGACAGGTCAC[A/G]CTTTCAGCAGATGAGCTTGAACCTCAGGAGGGTTGTGGCA |
A |
A |
C___1142281_1_ |
rs7401 |
IMS-JST063206 |
eukaryotic
translation initiation factor 3, subunit 4 delta, 44kDa|peter pan homolog
(Drosophila)|purinergic receptor P2Y, G-protein coupled, 11|angiopoietin-like
6|angiopoietin-related protein 5|peter pan homolog (Drosophila) |
EIF3S4|PPAN|P2RY11|ANGPTL6|ARP5|PPAN |
UTR
3UTR 3 |
19 |
10086777 |
0.38 |
0.19 |
0.34 |
0.43 |
hCV1142281 |
AGGCTGTCTTCTGTCGCCAAGGGTCCCGGACCGAGTACAC[A/G]GTGGCAGCTGGCTTAGTTGGTGGACGGCCTGGGGTAGGGG |
G |
G |
C___2959661_1_ |
rs2290684 |
IMS-JST042756 |
DNA
(cytosine-5-)-methyltransferase 1 |
DNMT1 |
Intron |
19 |
10112747 |
0.38 |
0.49 |
0.32 |
0.48 |
hCV2959661 |
TACACTGAGGGATTCACAGGCAGCCTCCAAGTTACAGAAG[A/G]ATAACTTGAAAAGAAACTCATACAATGACGTACCTTTTCC |
G |
A |
C___2774659_1_ |
rs2288349 |
IMS-JST039554 |
DNA
(cytosine-5-)-methyltransferase 1 |
DNMT1 |
Intron |
19 |
10118245 |
0.5 |
0.2 |
0.25 |
0.22 |
hCV2774659 |
AGGAAACAAAGGGACAGAAACATAAGGCCCTGAGGTGGCC[A/G]GCAGTGGCCGCAGCAGCTACTGCCAGCTTAATCCAGAGAC |
A |
A |
C__15746574_10 |
rs2241531 |
|
DNA
(cytosine-5-)-methyltransferase 1 |
DNMT1 |
Intron |
19 |
10132034 |
0.14 |
0.26 |
0.44 |
0.3 |
hCV15746574 |
TTTGTTCTAGAACCATCATTTTAACATTACCATCTGCTTT[C/G]GATAATGTCAAGAATAAATTCTTACGGTTCTTTGGGGGTC |
G |
G |
C___2774672_10 |
|
|
DNA
(cytosine-5-)-methyltransferase 1 |
DNMT1 |
Intron |
19 |
10132141 |
0.14 |
0.16 |
0.41 |
0.28 |
hCV2774672 |
AGGGAAAACAAAAGAGGATTAAAGGCTAAGAGAGTGTTTT[C/A]CACCCAGATAGTGCTTCGGTGTTAAGAACTTTGTATAAGT |
C |
C |
C__15818462_10 |
rs2116940 |
|
DNA
(cytosine-5-)-methyltransferase 1 |
DNMT1 |
|
19 |
10171392 |
0.14 |
0.21 |
0.4 |
0.27 |
hCV15818462 |
GGTCATCCTGGCCAGAAGTGAACCTTCACACAGACCCTCC[A/G]TTTGCTATGAATTGCTCACACTTGGCAGGACCCAGGAAGA |
G |
G |
C__11519742_10 |
|
|
|
|
|
19 |
10182089 |
0.29 |
0.35 |
0.26 |
0.3 |
hCV11519742 |
ATCTTCATTTTTCTCACCCACTTCAAACTTAGGCTTCCTT[T/C]TTTCCTTCCAGGCCACTTACACCCTGCCTTCCTCCCTCAA |
C |
C |
C___9322540_10 |
|
|
mitochondrial
ribosomal protein L4 |
MRPL4 |
|
19 |
10223425 |
0.12 |
0.05 |
0.17 |
0.05 |
hCV9322540 |
TAAAAAAACAAAACCACATAACTGGATAAAGAAAAAACCA[T/C]CTCCGACAGCCTTGGAGGCGGGATGAAGGCGTGGCCCGGT |
T |
T |
C__16211818_10 |
rs2358580 |
|
mitochondrial
ribosomal protein L4 |
MRPL4 |
UTR
5 |
19 |
10223882 |
0.37 |
0.06 |
0.06 |
0.05 |
hCV16211818 |
GGCGGCGTCGCGTGCGTGACGTCATCCAGCGGCGCCTCGC[G/A]AGGCTCCAGTGGCCTTGACCTCCCGCGGCGTGGGAGGCTG |
A |
A |
C_____14939_10 |
rs5491 |
|
intercellular
adhesion molecule 1 (CD54), human rhinovirus receptor |
ICAM1 |
Mis-sense
Mutation |
19 |
10246540 |
0 |
0.23 |
0.09 |
0.07 |
hCV14939 |
TCCGTGCTGGTGACATGCAGCACCTCCTGTGACCAGCCCA[A/T]GTTGTTGGGCATAGAGACCCCGTTGCCTAAAAAGGAGTTG |
T |
T |
C__16044655_10 |
rs2075741 |
|
intercellular
adhesion molecule 1 (CD54), human rhinovirus receptor|intercellular adhesion
molecule 4, Landsteiner-Wiener blood group|intercellular adhesion molecule 5,
telencephalin |
ICAM1|ICAM4|ICAM5 |
Intron |
19 |
10262098 |
0.5 |
0.18 |
0.17 |
0.35 |
hCV16044655 |
|
#N/A |
#N/A |
C___3129418_10 |
rs2569702 |
|
intercellular
adhesion molecule 1 (CD54), human rhinovirus receptor|intercellular adhesion
molecule 4, Landsteiner-Wiener blood group|intercellular adhesion molecule 5,
telencephalin |
ICAM1|ICAM4|ICAM5 |
Intron |
19 |
10264947 |
0.48 |
0.1 |
0.18 |
0.35 |
hCV3129418 |
ACGCTAACGGTGGAGTGTGAGTGGGGGTGCGCAGGGTGCA[T/C]TTCTATCTGGTTCAAGGTCTGGAGGGTGGCCAGCCTCCAG |
C |
C |
C___9322650_10 |
|
|
intercellular
adhesion molecule 5, telencephalin|similar to RIKEN cDNA B230118G17
gene|RAVER1|intercellular adhesion molecule 3 |
ICAM5|MGC19604|RAVER1|ICAM3 |
|
19 |
10275450 |
0.44 |
0.09 |
0.18 |
0.4 |
hCV9322650 |
ACCAGTCTTGACTCTCCATCCTCCCTCCCTCCCTGTGAGT[A/G]CTGGTGGCCTGTGTGTCCCGCCTGCTGAAAGATGCCTCTG |
A |
A |
C___8726191_10 |
rs1045384 |
|
similar
to RIKEN cDNA B230118G17 gene|RAVER1|intercellular adhesion molecule 3 |
MGC19604|RAVER1|ICAM3 |
UTR
3 |
19 |
10288246 |
0.24 |
0.06 |
0.09 |
0.07 |
hCV8726191 |
CAGAGGCTCCGGGAGATGGGCACAATGTCCGACTCCCACA[G/T]ACAGACAGCAGGGGACTGGCAGAGAAAGCCCATCTCTGCA |
T |
T |
C__11511130_10 |
|
|
similar
to RIKEN cDNA B230118G17 gene|RAVER1|intercellular adhesion molecule 3 |
MGC19604|RAVER1|ICAM3 |
Intron |
19 |
10295886 |
0.17 |
0.02 |
0.18 |
0.29 |
hCV11511130 |
AAAGAGATAATCAGCAACGGGTGGGGAAGGAAGGGCTCTC[A/G]TTCCAGACAGTGGCCAAGCCAGGTAGCAGTGCTAAGGGAA |
A |
A |
C__25473134_10 |
rs2278442 |
|
similar
to RIKEN cDNA B230118G17 gene|RAVER1|intercellular adhesion molecule 3 |
MGC19604|RAVER1|ICAM3 |
Intron |
19 |
10305826 |
|
|
0.3 |
0.16 |
hCV25473134 |
|
#N/A |
#N/A |
C___1931069_1_ |
rs2304240 |
IMS-JST061162 |
similar
to RIKEN cDNA B230118G17 gene|RAVER1|intercellular adhesion molecule 3 |
MGC19604|RAVER1|ICAM3 |
Mis-sense
Mutation |
19 |
10310392 |
0.16 |
0.09 |
0.18 |
0.33 |
hCV1931069 |
ACTCACTGTACACGGTGATGTTAGAGGAGCCTGTTATCTG[G/A]GAGCCATTGCAGTACACTGAGCAGAGGATCCGACTGTTGC |
A |
A |
C___1931070_10 |
rs281414 |
|
similar
to RIKEN cDNA B230118G17 gene|RAVER1|intercellular adhesion molecule 3 |
MGC19604|RAVER1|ICAM3 |
Mis-sense
Mutation |
19 |
10311285 |
0.15 |
0.15 |
0.07 |
0.03 |
hCV1931070 |
TCCAGCAGGCCCTGGGCCACAACACGGATGGTACCATGGT[G/A]GCCATTCTGACAGAGGAAGGTGCCTTCCTGAGGTGCCCGA |
A |
A |
C____944725_10 |
rs280520 |
|
tyrosine
kinase 2 |
TYK2 |
Intron |
19 |
10334138 |
|
|
0.4 |
0.44 |
hCV944725 |
TTTCGGAGCCGCAAGCTCTGCATGCCGTCTGGTGCCTGGC[G/A]GGAGGTGGCAGAGGTGGGAGCAGTAAGCAGGGGACCAGGC |
G |
G |
C__25473233_10 |
|
|
tyrosine
kinase 2 |
TYK2 |
Intron |
19 |
10350171 |
0.1 |
0.19 |
0.03 |
0.07 |
hCV25473233 |
AAGTCTCAGCCCAGAGACCCCTGTTAGCTCTTCAACCTTC[C/T]ACCCACCCCAGCTAAGGCCTGAGGGGAAGATTCTGGGCTC |
T |
T |
C___1931097_10 |
|
|
CDC37
cell division cycle 37 homolog (S. cerevisiae) |
CDC37 |
Intron |
19 |
10373911 |
0.21 |
0.1 |
0.49 |
0.36 |
hCV1931097 |
ACACTGGTATGTAATGCAGGCACACTCATTTGGGGTAGCA[G/A]GAGGTTAAACCTTTAAGTCTTAGTCATCCCATTGGCTCGT |
A |
A |
C___3129422_10 |
|
|
CDC37
cell division cycle 37 homolog (S. cerevisiae)|phosphodiesterase 4A,
cAMP-specific (phosphodiesterase E2 dunce homolog, Drosophila) |
CDC37|PDE4A |
|
19 |
10394112 |
0.42 |
0.22 |
0.44 |
0.42 |
hCV3129422 |
GGTGTCCTCTAACCACCTGGTGTTCTTAGTTATTGTTCCT[G/C]CTCTGATGGTGCTCCAGGGTCTGATTGCTTGTGCTCCAGC |
C |
G |
C___1931138_10 |
|
|
phosphodiesterase
4A, cAMP-specific (phosphodiesterase E2 dunce homolog, Drosophila) |
PDE4A |
|
19 |
10407771 |
0.4 |
0.48 |
0.42 |
0.43 |
hCV1931138 |
ATGTGCTAGCTGGGCACCTGCTTGGGAACAGAGTCTCACC[A/G]TCCTAAACTGCAGCTTAAATCCTAGGCCGGGGAGTTGGAG |
A |
G |
C__25747981_10 |
|
|
endothelial
differentiation, sphingolipid G-protein-coupled receptor, 8 |
EDG8 |
Silent
Mutation |
19 |
10486067 |
|
|
0.27 |
0.14 |
hCV25747981 |
CGCGTACCTGGCAGTAGATGCGCGCGTAGAGTGCACAGAT[A/C]GCGGCCAGGATGCCCACGAAGGCGAGCACGCAGAAGAGCA |
A |
A |
C___9323141_10 |
|
|
endothelial
differentiation, sphingolipid G-protein-coupled receptor, 8 |
EDG8 |
|
19 |
10489548 |
0.27 |
0.13 |
0.19 |
0.14 |
hCV9323141 |
TGAGCTTCCTGGGCTGCACCCCAAGGACGCCCCGTCGATG[A/G]TTCGGAGGGGTCTTCAGTGGGTTGCTTAGCAGGAGTCTTC |
A |
A |
C___9323149_10 |
|
|
endothelial
differentiation, sphingolipid G-protein-coupled receptor, 8 |
EDG8 |
|
19 |
10490460 |
0.24 |
0.14 |
0.18 |
0.19 |
hCV9323149 |
AGGGCGCCCCAGGAGAGATGAGCCAGAGGCTGAGAATAAG[T/C]GTGGATCCGGGATACCCTCGTGGGAGGAAACTCAGGGGGC |
C |
C |
C___9323243_10 |
|
|
AUT-like
4, cysteine endopeptidase (S. cerevisiae)|cysteine protease involved in
autophagy APG4-D|hypothetical protein FLJ12949 |
AUTL4|APG4-D|FLJ12949 |
Intron |
19 |
10520737 |
0.22 |
0.04 |
0.13 |
0.09 |
hCV9323243 |
TGCCCTGCGTGAAGGTAGGTTCAGCTGAATTCTAGGACAC[C/T]TCCACCTGGGAGCCCTCCAGACTTGTTTAGTTTGTGTTAG |
T |
T |
C___9323272_1_ |
|
|
cyclin-dependent
kinase inhibitor 2D (p19, inhibits CDK4)|AUT-like 4, cysteine endopeptidase
(S. cerevisiae)|cysteine protease involved in autophagy APG4-D|hypothetical
protein FLJ12949 |
CDKN2D|AUTL4|APG4-D|FLJ12949 |
|
19 |
10529953 |
0.43 |
0.19 |
0.27 |
0.17 |
hCV9323272 |
CTTCTGCAGGGTCAGGGCTGGCGGTTACCAGAGCCCACTC[A/G]AGACATAGGAGCTGAGCCCCCTACGATGCCGCCAATGACC |
A |
A |
C___8726487_1_ |
rs1045361 |
|
adaptor-related
protein complex 1, mu 2 subunit |
AP1M2 |
Silent
Mutation |
19 |
10553000 |
0.24 |
0.24 |
0.24 |
0.31 |
hCV8726487 |
GCACGCGGTCATTGAGGCCCAGCCGCAGCTCTGGCATTCC[C/T]GACAGAAACACCTTGAGCTTGATGGTACCGACGATTTCGC |
T |
T |
C___9323328_10 |
rs2304161 |
|
adaptor-related
protein complex 1, mu 2 subunit |
AP1M2 |
Intron |
19 |
10553117 |
0.24 |
0.21 |
0.24 |
0.33 |
hCV9323328 |
GGACGTTGGGTATAGTTAGCAGGCATCAAACTCCGTCTCC[C/T]GCAGCCAGGCCGTGGAAGGGGTGCCGGGGAGGTGTGCAGG |
#N/A |
#N/A |
C___8726508_10 |
rs1560709 |
|
CTL2
gene |
CTL2 |
Intron |
19 |
10603463 |
0.16 |
0.18 |
0.29 |
0.34 |
hCV8726508 |
CAAGTGAGGATATTGGCGCATCGCGCCAGGGTCTCACTTT[T/G]CTGGGTGGGACAGGCAATCCCCTGTGGTTGGCCTGATCAT |
G |
G |
C___3167198_10 |
|
|
CTL2
gene |
CTL2 |
Intron |
19 |
10609820 |
0.36 |
0.26 |
0.33 |
0.34 |
hCV3167198 |
CCCACCTAGCCTCTCGGGGTGTGGGAGCCTGATTTCTGTC[T/C]TCTGTGATGAGTGTCATCTTCTTAGGAGGCTGTTTCCTAT |
T |
T |
C___1481080_10 |
|
|
interleukin
enhancer binding factor 3, 90kDa |
ILF3 |
Intron |
19 |
10633685 |
0.38 |
0.32 |
0.33 |
0.34 |
hCV1481080 |
AGGAGGTGGGTTGAGTCTCTGAATTTCAGAGCCTAATTTG[G/C]TCTCTCTCAAGTGAATATCCACTTCAGGACCATTCCCTAG |
G |
G |
C___9323491_10 |
rs1982075 |
|
interleukin
enhancer binding factor 3, 90kDa |
ILF3 |
Intron |
19 |
10648744 |
0.31 |
0.17 |
0.07 |
0.17 |
hCV9323491 |
CATCCCAGGTGAAATCACTTCCGGGTCATCATACTCAAGA[C/G]GTTGGCCTTTCTGTTGCAGGAATAGGTGGAGCCAGATAAA |
G |
G |
C___9323578_10 |
|
|
dynamin
2|queuine tRNA-ribosyltransferase 1 (tRNA-guanine
transglycosylase)|tRNA-guanine transglycosylase |
DNM2|QTRT1|TGT |
Intron |
19 |
10691281 |
0.49 |
0.31 |
0.41 |
0.45 |
hCV9323578 |
CAGCCCGTGCAGCCACCTCTCCCTCCCACCAACCCCTCTT[G/T]CCTTTCTTGTCTCCCAGATGGGCGGCCACTTCTCCATTCC |
T |
G |
C___9323591_10 |
rs714307 |
|
dynamin
2 |
DNM2 |
Intron |
19 |
10696405 |
0.33 |
0.24 |
0.12 |
0.17 |
hCV9323591 |
GAGGCTGTCTGAGCAGAGGGAAGTAAAGCTGGTGGCGCTA[C/T]TGCTGTCCCTCTGGACCTGGCCAAGCTGAGGGCTCTCTCC |
C |
C |
C___9323616_10 |
|
|
dynamin
2 |
DNM2 |
Intron |
19 |
10701428 |
0.28 |
0.18 |
0.12 |
0.15 |
hCV9323616 |
AGGAAGAGCACACTGCCCAGCCCGTCCCTTCCTCCAGCTC[C/T]ACCTGGGAGCACCACTGTCACTTCAGGGTATGTCTAGCCA |
T |
T |
C___9323724_10 |
rs3826803 |
|
dynamin
2 |
DNM2 |
Intron |
19 |
10744126 |
0.46 |
0.34 |
0.39 |
0.44 |
hCV9323724 |
CTCCCCGCAGTCCATGCGCACCCTGCCCACAGCTCTTTCT[C/G]ATTTTCAGCATCTCTCTTCCCTTTCTAGAACATGCCGAGT |
C |
G |
C___2677652_10 |
rs3786719 |
|
dynamin
2 |
DNM2 |
Intron |
19 |
10788100 |
0.31 |
0.33 |
0.46 |
0.45 |
hCV2677652 |
|
#N/A |
#N/A |
C___2677653_10 |
|
|
dynamin
2 |
DNM2 |
Intron |
19 |
10788540 |
0.27 |
0.21 |
0.44 |
0.45 |
hCV2677653 |
AGATCTCCTCTTCCTTCACGTGAGGGGCCCTTCGTGTTTT[T/C]CTCATCTGAGAGTTGAAAGCCAGAGCCCCCGACCCTCCCG |
C |
T |
C___2686124_10 |
|
|
|
|
|
19 |
10826270 |
|
|
0.39 |
0.48 |
hCV2686124 |
GTGAATCAATGAACAAGGCTGACATTGTGAGAATACCAAG[T/C]GTCTGTCTTCTTCCCTCTTCTGGCTTAGCTCCTCACCTCC |
T |
C |
C__11698317_10 |
|
|
|
|
|
19 |
10842352 |
0.36 |
0.37 |
0.42 |
0.45 |
hCV11698317 |
GACGGGTTTGTGTGGCGGGAGAGGGGCCCTGCGCCGGGCC[G/A]GGCTGGACTCAGCATCGTTGGAGGAGGGGCTGAGAGAGGA |
G |
A |
C___9324034_10 |
|
|
|
|
|
19 |
10859845 |
0.24 |
0.24 |
0.39 |
0.45 |
hCV9324034 |
AGAGCTGCAGCCCAGCTCCTGCCATGTGTCACAATGTGAC[G/A]GACCCTCTTTAGCACCAGGAAGCAGGCTTGATTGCCTCCT |
G |
A |
C___9324077_10 |
|
|
hypothetical
protein BC011833|hypothetical protein MGC3262 |
LOC90580|MGC3262 |
|
19 |
10903743 |
0.23 |
0.18 |
0.11 |
0.14 |
hCV9324077 |
TGAGCATTGTAAGTTACTGGAGGTGGCTTGGAAGGATAAA[A/G]CATTTTCTGGTCTGGAAATCTATATGGAATCATAGATTCT |
A |
A |
C___9324129_10 |
|
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 4 |
SMARCA4 |
|
19 |
10926409 |
0.43 |
0.36 |
0.24 |
0.23 |
hCV9324129 |
CTGGGGATTTCCTGAATTGTGTTAAAACCACAGCTACTGG[A/C]TAAAATAAAGCTATTGCCCTGAGTTTCTGTCTTGGAAGAA |
A |
A |
C___9324209_10 |
|
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 4 |
SMARCA4 |
Intron |
19 |
10980272 |
0.38 |
0.41 |
0.21 |
0.15 |
hCV9324209 |
CGTAGCCTGTCCTTTGGTGACAAGCGTTTAGGTTATATTT[G/C]TCATCTTTTGCTCCTGTAACACATCACAGTTAACACAGTA |
C |
C |
C___9324218_1_ |
rs1029840 |
IMS-JST002349 |
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 4 |
SMARCA4 |
Intron |
19 |
10999167 |
0.34 |
0.44 |
0.48 |
0.49 |
hCV9324218 |
TCTGGCTTCCCGGAGCATCCCTGTTCCAGCCCCGTGTTGT[C/G]CCGGCCATGTGACTCACAGCTCCTCTCATTTTCATGAGTG |
G |
G |
C___2658738_1_ |
rs1019194 |
IMS-JST002350 |
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 4 |
SMARCA4 |
Intron |
19 |
10999226 |
0.24 |
0.13 |
0.15 |
0.13 |
hCV2658738 |
GCTCCTCTCATTTTCATGAGTGTCTGGGTTTGACGAGAAA[T/C]ACATGTGCCACCCTGGTGATACGCCTCCCCAGCGAGGGTG |
C |
C |
C__15870742_10 |
rs2072382 |
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 4 |
SMARCA4 |
Intron |
19 |
11013650 |
|
|
0.25 |
0.3 |
hCV15870742 |
|
#N/A |
#N/A |
C___9324267_10 |
|
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 4 |
SMARCA4 |
Silent
Mutation |
19 |
11031839 |
0.28 |
0.36 |
0.18 |
0.15 |
hCV9324267 |
CGAGCCGAGGGTCCCGAGCCAAGCCGGTCGTGAGTGACGA[C/T]GACAGTGAGGAGGAACAAGAGGAGGTGAGGCCGGGCCCCC |
C |
C |
C__11698211_10 |
|
|
SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
a, member 4 |
SMARCA4 |
|
19 |
11037075 |
0.34 |
0.4 |
0.14 |
0.13 |
hCV11698211 |
AGTACTTTTTCTGGAATAAACATTTCCTCACTGGGTGAAC[A/G]CCTTTGACGAGATCTTCACAGTCCTGGGATGGTTGCTTTG |
G |
G |
C___9324316_10 |
|
|
|
|
|
19 |
11047711 |
0.13 |
0.38 |
0.29 |
0.22 |
hCV9324316 |
CACAGACACAGGTCTTGGGGCCCCTGCAGGGGTTTCTCAC[C/T]GGCTTTTTCCCCCTGGATTCCTATGGGTTCTGGGGAACAG |
T |
T |
C___2804256_10 |
|
|
low
density lipoprotein receptor (familial hypercholesterolemia) |
LDLR |
Intron |
19 |
11085931 |
0.08 |
0.48 |
0.48 |
0.48 |
hCV2804256 |
CTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCC[C/T]GGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAG |
T |
T |
C___2804300_10 |
|
|
low
density lipoprotein receptor (familial hypercholesterolemia)|kinetochore
protein Spc24|hypothetical protein FLJ90806 |
LDLR|Spc24|FLJ90806 |
Intron |
19 |
11102915 |
|
|
0.31 |
0.28 |
hCV2804300 |
AGGAGGTGAGAAGTAGGTGGCCTCCAGCCGTGTTTCCTGA[A/G]TGCTGGACTGATAGTTTCCGCTGTTTACCATTTGTTGGCA |
G |
G |
C___2804304_10 |
rs1433099 |
|
low
density lipoprotein receptor (familial hypercholesterolemia)|kinetochore
protein Spc24|hypothetical protein FLJ90806 |
LDLR|Spc24|FLJ90806 |
UTR
3 |
19 |
11103658 |
|
|
0.31 |
0.27 |
hCV2804304 |
ACCAAATGATGCCACTTCCCAGAGGCAGAGCCTGAGTCAC[C/T]GGTCACCCTTAATATTTATTAAGTGCCTGAGACACCCGGT |
T |
T |
C___9324547_10 |
|
|
kinetochore
protein Spc24|hypothetical protein FLJ90806 |
Spc24|FLJ90806 |
UTR
3 |
19 |
11118018 |
0.31 |
0.23 |
0.25 |
0.19 |
hCV9324547 |
TGAAGTACCTGGGAGCTGTCATCGAATACCACGGTGTCAT[C/T]TGTCCCATCCCGTCACAGATGTGAAACTGCAGGCCTGGCA |
T |
T |
C___8726979_10 |
rs7187 |
|
ankyrin
repeat domain 25|kinetochore protein Spc24|KIAA1518 protein|hypothetical
protein FLJ90806 |
ANKRD25|Spc24|KIAA1518|FLJ90806 |
UTR
3 |
19 |
11136258 |
|
|
0.4 |
0.33 |
hCV8726979 |
ATGCACTGGCTGGCTCCAGGGCTGGACACACAGGCACAGA[G/A]CTCTTGTACCGCTTCTCAAAGCTGCCCAAAGCTGCGACCT |
G |
G |
C___8726981_10 |
|
|
ankyrin
repeat domain 25|KIAA1518 protein |
ANKRD25|KIAA1518 |
UTR
3 |
19 |
11137744 |
|
|
0.39 |
0.44 |
hCV8726981 |
|
#N/A |
#N/A |
C__25750062_10 |
rs3745682 |
|
ankyrin
repeat domain 25|KIAA1518 protein |
ANKRD25|KIAA1518 |
|
19 |
11174256 |
0.34 |
0.21 |
0.36 |
0.3 |
hCV25750062 |
AGGCAGCCCCATGCCCCGTTCCACCCCCAACCACAAGGAC[A/G]TGCCTCCAGCCGGTGTGAGATCTCTGCCAGCTTCGTGATC |
A |
A |
C___8726996_10 |
rs3816040 |
|
|
|
|
19 |
11180491 |
0.35 |
0.33 |
0.37 |
0.43 |
hCV8726996 |
GCGACAGGATGTCGTCGGAGATGGCGGACTCCTCTAGCAC[A/G]TTGGATGAGATGTTCTGGGGTGGGAGAGGTGGCGTCAGAC |
A |
G |
C___9324866_10 |
rs3810307 |
|
|
|
|
19 |
11193570 |
0.14 |
0.48 |
0.27 |
0.32 |
hCV9324866 |
CAAAGTCATGCAGCCGTGGCAAGGTATCCCGTGCAATCGA[T/A]AGCAGTGGCAGGTACAGCTCGGCCACACGAGCCTTCACAG |
A |
A |
C___9324901_10 |
|
|
hepatocellular
carcinoma-associated gene TD26 |
LOC55908 |
|
19 |
11202635 |
0.14 |
0.49 |
0.27 |
0.3 |
hCV9324901 |
GACCCAACCCTGGGACCTACTCTGACACTTGAGGGCTCTC[C/T]AGCTACCCCAGTCCCAGCCATACCCTGGCAACTCACTGTG |
C |
C |
C___9324909_10 |
|
|
hepatocellular
carcinoma-associated gene TD26 |
LOC55908 |
|
19 |
11203703 |
0.14 |
0.48 |
0.27 |
0.32 |
hCV9324909 |
CTATGTGGCAGCAAAAAGCCAGTTAGGATGACCCAGTGAT[A/G]CCTAAACACAGACTTCACAGCCCCAAACAAAGGCAGGAGA |
G |
G |
C___9324911_10 |
|
|
hepatocellular
carcinoma-associated gene TD26 |
LOC55908 |
|
19 |
11204795 |
0.08 |
0.22 |
0.2 |
0.31 |
hCV9324911 |
AGTGACGCCTTCATTCACGTTGTCGTCTCTGTTGTTTCCC[A/G]TGCTTCATCAACAGATTCTTCGCCCACACACGTGGCAACC |
G |
G |
C___9324938_10 |
|
|
|
|
|
19 |
11225495 |
0.13 |
0.2 |
0.16 |
0.28 |
hCV9324938 |
CGGACAGATTCTTTCTATGAGGAAAATCCAGATTGTGGAA[C/T]GAAATAAATAGGCCGAGGGCCAAGAGAACCAGGAGTGCTG |
T |
T |
C___9324984_10 |
|
|
|
|
|
19 |
11235555 |
0.14 |
0.19 |
0.3 |
0.38 |
hCV9324984 |
TCACCTGCATGCCTCTGCACCGGCAGGTCCTTCCTCCTGG[A/G]CAGCCCTTCTTTCCCTGGTCAGCAAATGCCCCAGGGAGAA |
G |
G |
C___9325137_1_ |
rs453766 |
IMS-JST061054 |
RAB3D,
member RAS oncogene family|tetraspanin TM4-B |
RAB3D|TM4-B |
UTR
5 |
19 |
11267839 |
0.26 |
0.31 |
0.24 |
0.2 |
hCV9325137 |
GCAGGGGGCAGCTGCTGGGCCGCCTTGGACAACCATCAGG[C/G]AGCCAGGACACAGAGGGGCAGAGCAAGTCAGCATTGGCGC |
G |
G |
C___9325153_10 |
rs414852 |
|
RAB3D,
member RAS oncogene family|tetraspanin TM4-B |
RAB3D|TM4-B |
Intron |
19 |
11271141 |
0.3 |
0.28 |
0.07 |
0.01 |
hCV9325153 |
CCAAGTCCTCACAAAACCTGCTGAGTTCATTTAGTTCATC[T/C]CTCTTGGGTTTGGTGGCAGGAGAAGGGGAGATGATCAGAA |
T |
T |
C___8727104_10 |
|
|
RAB3D,
member RAS oncogene family|tetraspanin TM4-B |
RAB3D|TM4-B |
Intron |
19 |
11272868 |
0.28 |
0.21 |
0.34 |
0.23 |
hCV8727104 |
GCCACTCTTGCTAGTTGGGGTACTGATCACTTCCTGTCCT[A/C]TCTGTGAGGTTGGAGATGTGGCCTTGGAACACACCTTCGT |
A |
A |
C___9325192_10 |
rs322151 |
|
RAB3D,
member RAS oncogene family|tetraspanin TM4-B |
RAB3D|TM4-B |
Intron |
19 |
11278200 |
0.26 |
0.27 |
0.14 |
0.16 |
hCV9325192 |
ATGTTTAGCACAGTCTCTGGGATATTGTGACCATACTAGA[T/C]GGTAGCCATGGTAACCGTGATTTCTGATGTTTTTATTATT |
C |
C |
C___9325224_10 |
rs322143 |
|
RAB3D,
member RAS oncogene family|tetraspanin TM4-B |
RAB3D|TM4-B |
Intron |
19 |
11286097 |
0.34 |
0.36 |
0.09 |
0.13 |
hCV9325224 |
ATGCCCCTGGTTGCCCAAGAAATTTTTCCTACATGCTTTC[C/T]GCACATTGACTACCAACATAGTAGTGTCTTTTCTGCAAAT |
T |
T |
C__11965967_10 |
rs896412 |
|
RAB3D,
member RAS oncogene family|tetraspanin TM4-B|hypothetical protein MBC3205 |
RAB3D|TM4-B|MBC3205 |
Intron |
19 |
11305131 |
0.41 |
0.1 |
0.15 |
0.23 |
hCV11965967 |
AGTTCAAAGTGCAGGAAAGGGTATATACAGTAGGGAACAT[G/C]TGTGTAAAACAAAAAAGTAGCCAATGTGTTGTCAATGCCT |
G |
G |
C___1345938_1_ |
rs6887 |
IMS-JST064748 |
lipid
phosphate phosphatase-related protein type 2|hypothetical protein
FLJ13055|hypothetical protein MBC3205 |
LPPR2|FLJ13055|MBC3205 |
|
19 |
11326316 |
0.43 |
0.4 |
0.22 |
0.27 |
hCV1345938 |
CTGAGCCCTCCACTCCCCTCCTGGGACTCTGACTCCGACT[C/G]TGACCAGGACCTCTCCCAGCCACCTTTCAGCAAGAGCGGC |
C |
C |
C____623467_10 |
rs317915 |
|
hypothetical
protein FLJ35119|lipid phosphate phosphatase-related protein type
2|hypothetical protein FLJ13055 |
FLJ35119|LPPR2|FLJ13055 |
|
19 |
11337784 |
0.02 |
0.13 |
0.22 |
0.24 |
hCV623467 |
GAGGGATGGGGGATGCTGAGGGGCACTAAGAACCTCCAAG[C/T]GGAACACCTGGCTGTGTGGATGAGAACAGGGGTGCTGAGT |
C |
C |
C____623487_10 |
rs317923 |
|
erythropoietin
receptor |
EPOR |
|
19 |
11364685 |
0.03 |
0.47 |
0.2 |
0.21 |
hCV623487 |
GCACAGATGGGTTATCTGTGACAGGAAGAGGAAGAAGGTG[G/A]GGGCAAGTGAAAGGGCCCATCCTCACAGCCCTTATTGACT |
G |
G |
C____977749_10 |
rs318697 |
|
hypothetical
protein MGC20983|protein kinase C substrate 80K-H |
MGC20983|PRKCSH |
Intron |
19 |
11410258 |
|
|
0.2 |
0.1 |
hCV977749 |
AACTTTCCATTGTCACGCTCTGCAGCAGGTCCTGAAAACC[A/G]AAACACCCACAGGCAGGTAAAGTATACAACGGAAGGAGGC |
A |
A |
C____623562_10 |
rs694857 |
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen
C)|hypothetical protein DKFZp547J036 |
ELAVL3|DKFZp547J036 |
Intron |
19 |
11443747 |
0.1 |
0.25 |
0.26 |
0.14 |
hCV623562 |
ATGTAGAGGAGAATTTTAAAGCCACTTCAGAAATCAGCAG[C/G]AAACAGTGCTGGGATTTGACTGACCTTATCTGTCAGGGAC |
G |
G |
C____623572_10 |
rs311805 |
|
ELAV
(embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen
C)|hypothetical protein BC016816|hypothetical protein DKFZp547J036|likely
ortholog of mouse signaling intermediate in Toll pathway-evolutionarily
conserved|hypothetical protein BC0168 |
ELAVL3|LOC115950|DKFZp547J036|SITPEC|LOC51295 |
Mis-sense
Mutation |
19 |
11459483 |
0.11 |
0.23 |
0.21 |
0.08 |
hCV623572 |
CGCACACCACTGTCTCCAGGGCTTCAGGCCCATTGCCTGC[T/C]GGGTTGGAGCACAGCGGGGTACCCTGCTCGGCCAGGCTTT |
C |
C |
C__11513959_10 |
|
|
hypothetical
protein BC016816|likely ortholog of mouse signaling intermediate in Toll
pathway-evolutionarily conserved|hypothetical protein BC016816 |
LOC115950|SITPEC|LOC51295 |
Intron |
19 |
11485176 |
0.11 |
0.27 |
0.21 |
0.08 |
hCV11513959 |
GGAGGAGGGAAGGGAAGAGGAGAAAAGAAAACAGTGAAGT[G/C]AGGGAATTGATCACAGACAGGGAGAAAAGAATCAGAGAGA |
C |
C |
C__11510400_10 |
|
|
acid
phosphatase 5, tartrate resistant|hypothetical protein MGC4549 |
ACP5|MGC4549 |
|
19 |
11538145 |
0.48 |
0.06 |
0.18 |
0.17 |
hCV11510400 |
TGAGTGTCAAGTGACAGACAGCCTACTGGCTGCATGAGAA[T/C]GCCAGTCCCTTTTTCAGCCTCTAGTTTGACAAGCAGAGTG |
C |
C |
C___3060403_1_ |
rs2071485 |
|
acid
phosphatase 5, tartrate resistant |
ACP5 |
Intron |
19 |
11549200 |
0.11 |
0.11 |
0.07 |
0.02 |
hCV3060403 |
GCCCGGGCTGTGACAAGGGCAGGGAGGCCTTGAGACCCCC[A/G]CCTGCCCTGAGATAGAGGGAGACTGCTTGCTGCAGGCTGC |
A |
A |
C___2883453_10 |
rs4804631 |
|
|
|
|
19 |
11631814 |
|
|
0.31 |
0.28 |
hCV2883453 |
CAATTTTTACTTCAGAAGGTCAGTAAATTCTGCTTTCATC[C/T]AATGTCTTTACATGTAGAATTATTTTTCATTATCATTGTT |
C |
C |
C___2883460_10 |
|
|
|
|
|
19 |
11632747 |
0.39 |
0.15 |
0.3 |
0.3 |
hCV2883460 |
TTGAAAATGTATATTAATTTCTAAGAATAGCACTAATACC[G/C]TATGCCGTATCTGTGGAAAGGTATGAGTATTTCCTGATGA |
C |
C |
C___2404635_10 |
|
|
|
|
|
19 |
11650015 |
|
|
0.08 |
0.02 |
hCV2404635 |
GGCCTTAGCATGAAAATACTACCAGGGAAAAGAAATAGGG[G/A]AAAAAACCTCTCTTCCATTTTGGTTACAGAAAAAATGAGT |
G |
G |
C___2404642_10 |
rs286298 |
|
|
|
|
19 |
11656897 |
0.19 |
0.36 |
0.22 |
0.15 |
hCV2404642 |
CATCAGAGCTGACACTGGACACAAATCAGATGAGTGTCAG[C/G]AACATAGAAGCCACATAAGCAGTGTGTGAAAACCTTCAGC |
G |
G |
C__11697356_10 |
|
|
|
|
|
19 |
11661020 |
0.48 |
0.19 |
0.5 |
0.44 |
hCV11697356 |
GTAGTAAAGCTTTTCTTTCTTCAAAAGCTGGTGCCATGCT[A/G]TTGGCTTGTGTGTACATCTGGAAGTGAGCCAATTCACTAC |
A |
A |
C___2883503_10 |
|
|
|
|
|
19 |
11697477 |
0.15 |
0.29 |
0.23 |
0.16 |
hCV2883503 |
GTAGTTCTTATCATGACAAAGTACAACTACCTATTGTGTA[G/T]AAGAGTTACCACTCCCAGTCCTGAAACTGCATATCCTGAC |
T |
T |
C___2883511_10 |
rs286262 |
|
|
|
|
19 |
11708615 |
0.49 |
0.49 |
0.44 |
0.48 |
hCV2883511 |
AGTTCAGGTCCTCTTATCACTTGGGACATCTCCCACCCCA[A/G]TGCTGCTCACTGAACTGCTGAGTAATTACCCTCCAAGGAG |
A |
G |
C___2883538_10 |
|
|
zinc
finger protein 441|hypothetical protein FLJ38637 |
ZNF441|FLJ38637 |
Intron |
19 |
11740729 |
0.38 |
0.4 |
0.11 |
0.13 |
hCV2883538 |
ATGAAGGGAGAAAACTATCCCTAAGGACAGGAAAACCAAC[C/T]CCACTGAGGTGGTGCAAGAACCTGAAAAGCTAACAATGTA |
C |
C |
C___2883574_10 |
|
|
zinc
finger protein 491|hypothetical protein FLJ34791 |
ZNF491|FLJ34791 |
|
19 |
11769770 |
0.17 |
0.38 |
0.28 |
0.3 |
hCV2883574 |
GACAGACTGTAATTTGTACATACAAAGATAATCTGTGAAG[A/G]TCAGGCTCAGTAAGATTTGTCTGACATGTCACCTGGAGAA |
G |
G |
C__15912569_10 |
rs2685687 |
|
zinc
finger protein 440|zinc finger protein 491|hypothetical protein
FLJ34791|hypothetical protein FLJ37933 |
ZNF440|ZNF491|FLJ34791|FLJ37933 |
UTR
3 |
19 |
11779585 |
|
|
0.06 |
0.07 |
hCV15912569 |
GGGGAATGTTCTCTGATGCTCAACTCCCCTAGTCTGCAGA[T/C]TGAGTTGGTAGGAGGTGTGATTTGTTTACATGCACCTTTG |
C |
C |
C___1907567_10 |
|
|
|
|
|
19 |
12059154 |
0.07 |
0.46 |
0.03 |
0.08 |
hCV1907567 |
CCTTTTTATCTGAGTCATTTGTCCTCTATAATCATCAGTG[G/T]CAGGCCACTGTTCAGGATTTGTTTCTGGATTTCCAGAGAT |
G |
G |
C___8728203_10 |
rs269807 |
|
zinc
finger protein 20 (KOX 13) |
ZNF20 |
|
19 |
12096478 |
0.17 |
0.23 |
0.19 |
0.25 |
hCV8728203 |
CATGCAAAGATGCAGTGTGTTAAGCAAAAGTGGAAGATAA[T/C]GAGACCATTTCAGGTAGATTCATATGCTGCAGTCCTACAA |
T |
T |
C___3116997_10 |
rs718717 |
|
similar
to Zinc finger protein 20 (Zinc finger protein KOX13) (DKFZp572P0920)|zinc
finger protein 136 (clone pHZ-20)|zinc finger protein 44 (KOX 7) |
LOC90589|ZNF136|ZNF44 |
Intron |
19 |
12138269 |
0.15 |
0.34 |
0.24 |
0.2 |
hCV3116997 |
AGAACCAACTCTCCTATTATGGCTTCAGAAAAATGAATAT[G/A]GTTTCCCAAGAAAGTTAGTAGATAAATTGGGGAATTACAA |
G |
G |
C___1535595_10 |
rs2459040 |
|
zinc
finger protein 44 (KOX 7)|GIOT-2 for gonadotropin inducible transcription
repressor-2 |
ZNF44|GIOT-2 |
Intron |
19 |
12246749 |
0.3 |
0.37 |
0.29 |
0.24 |
hCV1535595 |
CTTTGCTTCTTTTTAAAAGTTCTTGTCATTCTCAGAAACA[T/C]TGCAAGGACATCACCTGTCTCTTATAAGTACAAATTACCT |
T |
T |
C____987716_10 |
rs438963 |
|
zinc
finger protein 44 (KOX 7)|GIOT-2 for gonadotropin inducible transcription
repressor-2 |
ZNF44|GIOT-2 |
Intron |
19 |
12265576 |
0.3 |
0.36 |
0.3 |
0.24 |
hCV987716 |
GAGTTAGGATGAAGGGACAGGTCTCAAAGACCCTGATGCC[A/C]ATATCTTTGAAAGCCTCGGAGGAGAAATGGTCGCCCTTGG |
C |
C |
C___1997976_10 |
|
|
hypothetical
protein FLJ38281|zinc finger protein 564|hypothetical protein MGC26914 |
FLJ38281|ZNF564|MGC26914 |
|
19 |
12426696 |
0.49 |
0.16 |
0.11 |
0.11 |
hCV1997976 |
GACTGATCACCTGTATTATGGACCATCTGTGTGATTATGG[G/A]GAAAAGTTCAGGACACCAGCAACCTACATTGGATAGGACC |
A |
A |
C___1997985_10 |
|
|
hypothetical
protein FLJ38281|zinc finger protein 564|hypothetical protein MGC26914 |
FLJ38281|ZNF564|MGC26914 |
Intron |
19 |
12441895 |
0.49 |
0.2 |
0.18 |
0.22 |
hCV1997985 |
ATATGAAATTCCCTTTCTCCAATTTCAGAAAGAAGTGATC[T/C]GCAAACAGCTACTCTAGAGGCTGGCCATCCTCCCAACGTC |
T |
T |
C___3171312_10 |
|
|
hypothetical
protein FLJ38281|zinc finger protein 564|hypothetical protein MGC26914 |
FLJ38281|ZNF564|MGC26914 |
Intron |
19 |
12454118 |
0.32 |
0.42 |
0.38 |
0.32 |
hCV3171312 |
GAAGGAAAACCCACACTCAGAAAGCTAAACACATACACAA[A/G]CTTGGGGCCCACATTCTTGCTGTTGGGCAACAACCTTTAG |
A |
A |
C___3171300_10 |
|
|
hypothetical
protein FLJ38281|zinc finger protein 564|hypothetical protein MGC26914 |
FLJ38281|ZNF564|MGC26914 |
Intron |
19 |
12479699 |
0.2 |
0.24 |
0.44 |
0.47 |
hCV3171300 |
CAGCTGGCCCTCTGCTTGTTCATTTAATTGGAGGCGCCAC[G/A]CAGTATTAACATCAATCAACCTACCCACAGCCTCAGTCAG |
A |
G |
C___2937440_10 |
|
|
zinc
finger protein 490|KIAA1198 protein |
ZNF490|KIAA1198 |
UTR
3 |
19 |
12550741 |
0.22 |
0.41 |
0.22 |
0.2 |
hCV2937440 |
GTCATTGAAGATGTTCCCATATTGCTTACATTTAAGAAGG[C/T]GGCTCTCCAGTGTGGGTGGTTTCATGGTTTTAAAATGAAC |
C |
C |
C___2937434_10 |
|
|
zinc
finger protein 490|KIAA1198 protein |
ZNF490|KIAA1198 |
UTR
3 |
19 |
12552185 |
0.22 |
0.44 |
0.2 |
0.21 |
hCV2937434 |
TTCATTGCCGCATGAGTCACGTCTTCAAAGGGAATTAGGA[T/C]AACTGAAGGCTTAATCACACCGTTTACATTCCTTGAATTT |
T |
T |
C__11696177_10 |
|
|
hypothetical
protein FLJ90396 |
FLJ90396 |
Intron |
19 |
12596329 |
|
|
0.22 |
0.14 |
hCV11696177 |
AGTTAGAGAACTGCCATTTCTTGCTCATAATCACTGTTCC[A/G]AGATTTGGAATCTGAAAAGGAAACACTTCTGTAAATAAAC |
A |
A |
C___2937351_10 |
|
|
hypothetical
protein FLJ90396|mannosidase, alpha, class 2B, member 1 |
FLJ90396|MAN2B1 |
|
19 |
12614644 |
|
|
0.48 |
0.44 |
hCV2937351 |
GGACCAGATGCCACCTGGTCAGGGTCTCACTCCAACTTGT[A/G]TCTCGGCCCAAAGCAGTCAGAGGGTAGCCTGCTGGGCCCG |
A |
A |
C___3004807_1_ |
rs1133330 |
IMS-JST060510 |
PTD008
protein|hypothetical protein MGC4238|mannosidase, alpha, class 2B, member 1 |
PTD008|MGC4238|MAN2B1 |
Mis-sense
Mutation |
19 |
12633090 |
0.47 |
0.32 |
0.06 |
0.02 |
hCV3004807 |
GTACCACAGGGTAGGCGCACTGACCTGCGCATTTACCAGC[T/C]GGATGAGCTTGTCAAGGTTCTTGAACCACATGTTGGCATT |
T |
T |
C___3004808_1_ |
rs1054487 |
IMS-JST060509 |
PTD008
protein|hypothetical protein MGC4238|mannosidase, alpha, class 2B, member 1 |
PTD008|MGC4238|MAN2B1 |
Silent
Mutation |
19 |
12633165 |
0.47 |
0.44 |
0.06 |
0.02 |
hCV3004808 |
GGCATTCTCATATTGGAAGTCCGAGCCCATGGTCATCACA[G/A]TGTGGTTGGTGCGGTAATACCGGCCCTGCAGGCAAGAGGG |
A |
A |
C___3004809_1_ |
rs2303731 |
IMS-JST060508 |
PTD008
protein|hypothetical protein MGC4238|mannosidase, alpha, class 2B, member 1 |
PTD008|MGC4238|MAN2B1 |
Intron |
19 |
12633263 |
0.48 |
0.48 |
0.06 |
0.02 |
hCV3004809 |
GATCCTGGGCCATCCCTGTGTATAGCTGTGTTTTGATGTA[T/C]ATGGGGTCAAGGATGTTGGGTGCACAGGCATGGGTGGGGG |
C |
C |
C___1344008_10 |
rs722571 |
|
hypothetical
protein MGC10870|transportin 2 (importin 3, karyopherin beta 2b)|karyopherin
beta 2b, transportin |
MGC10870|TNPO2|TRN2 |
|
19 |
12672379 |
0.45 |
0.34 |
0.15 |
0.17 |
hCV1344008 |
CAGCTGAGGCTGCAACAAAGCTGGCAGGGAGTGTGTGGAG[C/T]GGGTCCCAAGCATGTGCGTGCTGACAGGGCGACTCCCAAG |
C |
C |
C___1344029_1_ |
rs1205171 |
IMS-JST014242 |
jun
B proto-oncogene|peroxiredoxin 2|ribonuclease H2, large subunit |
JUNB|PRDX2|RNASEH2A |
Intron |
19 |
12772340 |
0.18 |
0.02 |
0.49 |
0.49 |
hCV1344029 |
AGTTTGAGAGGCACAGCTCCAGCTAAGTGGCTTCACATGT[A/G]CTTGTAACTTGCAGCATCACCCAGCAGAGAGCCTGTGTTA |
G |
A |
C___1664773_10 |
|
|
peroxiredoxin
2|ribonuclease H2, large subunit |
PRDX2|RNASEH2A |
Intron |
19 |
12780567 |
0.08 |
0.08 |
0.02 |
0.12 |
hCV1664773 |
ACATAAATCAGCATTGCCTCGAATGCTCTCAATGAAAGAA[T/C]GGACCGTTCTGAGAGAATAACAAGGCAAAATAACCTTGAC |
C |
C |
C__11696102_1_ |
rs2290688 |
IMS-JST042761 |
|
|
|
19 |
12819697 |
0.29 |
0.41 |
0.41 |
0.25 |
hCV11696102 |
CGCAGGCCACTGCGCAGATGGAGGAGAAGCTGCGCGACTT[C/T]ACCCGCGCCTACGAACCCGACAGCGTTCTGCCTCTGGCCG |
T |
T |
C__11696120_1_ |
rs2293682 |
IMS-JST046900 |
Kruppel-like
factor 1 (erythroid)|deoxyribonuclease II, lysosomal |
KLF1|DNASE2 |
Silent
Mutation |
19 |
12850560 |
0.24 |
0.23 |
0.4 |
0.25 |
hCV11696120 |
AGAGCAGGGTCTGCCCGTAGGTACAGGCGCTATGAGGCCA[A/G]CTGTATGCAGCAGAGGAGGCCGGTGGAGGGAAGTTAGGTA |
G |
G |
C____347859_10 |
|
|
Kruppel-like
factor 1 (erythroid)|deoxyribonuclease II, lysosomal|glutaryl-Coenzyme A
dehydrogenase |
KLF1|DNASE2|GCDH |
|
19 |
12862547 |
0.41 |
0.21 |
0.2 |
0.11 |
hCV347859 |
ATGTGCTTCCTGGGACAGACTGGCAGAAAGGTTTGCTAAG[A/G]TCGCCCACTTGGAGCTCGTCTTCCCCACAACCAGCACCCA |
G |
G |
C___8728576_1_ |
rs9384 |
IMS-JST014781 |
glutaryl-Coenzyme
A dehydrogenase |
GCDH |
UTR
3 |
19 |
12871643 |
0.39 |
0.25 |
0.2 |
0.11 |
hCV8728576 |
TACCCTGAAATAGCAGCTTCTCTTGAGAGGAGAGTGACAT[G/T]GAAGCAACTCCGTCTGCTGCAGCTGACCCCCTCACACTGA |
T |
T |
C___8728583_10 |
|
|
RAD23
homolog A (S. cerevisiae)|calreticulin|phenylalanine-tRNA synthetase-like,
alpha subunit|phenylalanine-tRNA synthetase-like |
RAD23A|CALR|FARSLA|FARSL |
|
19 |
12909608 |
0.41 |
0.2 |
0.2 |
0.12 |
hCV8728583 |
GGCGGCTGCAATCTGGGTAATAACCCTATCCCCACTCCAG[A/G]AGTCACAGTCACATCGTTAAGCCTTCCTCCCCTCTTGTCC |
A |
A |
C_____14282_10 |
|
|
RAD23
homolog A (S. cerevisiae)|calreticulin|papillomavirus L2 interacting nuclear
protein 1 |
RAD23A|CALR|PLINP-1 |
UTR
3 |
19 |
12925322 |
0.02 |
0.06 |
0.04 |
0.11 |
hCV14282 |
|
#N/A |
#N/A |
C____917202_10 |
|
|
nuclear
factor I/X (CCAAT-binding transcription factor) |
NFIX |
Intron |
19 |
13012108 |
|
|
0.32 |
0.36 |
hCV917202 |
CTCATAGGCCTTTTCTTGGTCTCCTTGGCTGTCCCTGCTA[A/G]ATAGTCATCTTTGGGGACATCCTCCCTTTTGGCCACAAAG |
A |
A |
C___8726092_10 |
rs931067 |
|
nuclear
factor I/X (CCAAT-binding transcription factor) |
NFIX |
Intron |
19 |
13019783 |
0.31 |
0.09 |
0.36 |
0.39 |
hCV8726092 |
AAGGCTGATTTCCCTGGGATCTGCCCATGCTCTGCTTCTC[A/G]ACCTGTGTTTTCACCTGTAATCAGCAATGCCACTTATCAG |
G |
G |
C__11510295_10 |
|
|
hypothetical
protein FLJ20244|BTB (POZ) domain containing 14B|transcriptional repressor
NAC1 |
FLJ20244|BTBD14B|NAC1 |
Intron |
19 |
13092918 |
0.23 |
0.27 |
0.08 |
0.03 |
hCV11510295 |
CCTCTGTGTTTACAAAGATGGTGTAGCAAAGTGAAGTCAT[T/C]ATGAGCCATGAGGGGATGGGGAGGTTTCGATGGGTGGCCG |
C |
C |
C__15973521_10 |
rs2304096 |
|
syntaxin
10|BTB (POZ) domain containing 14B|immediate early response 2|immediate early
protein|transcriptional repressor NAC1 |
STX10|BTBD14B|IER2|ETR101|NAC1 |
|
19 |
13112982 |
0.1 |
0.14 |
0.1 |
0.02 |
hCV15973521 |
|
#N/A |
#N/A |
C___9326812_10 |
rs11775 |
|
syntaxin
10|BTB (POZ) domain containing 14B|immediate early response 2|immediate early
protein|transcriptional repressor NAC1 |
STX10|BTBD14B|IER2|ETR101|NAC1 |
|
19 |
13115875 |
0.29 |
0.3 |
0.42 |
0.44 |
hCV9326812 |
CACGCATTTGCAGTCAACACACACCACACGACACAAATAC[A/G]TATAAAAAAGGCTGACATTTTATTTCCAGGTTGGCACGTG |
G |
G |
C___9326834_10 |
rs752340 |
|
|
|
|
19 |
13137345 |
|
|
0.11 |
0.07 |
hCV9326834 |
AGCCCCAGGCCCTGAAGGTATGCTGTACTTGGTCACTTCC[A/G]TGCATTTGTTTAATCCTCACCACAAGCCTGGGTCAGGATA |
A |
A |
C__15973534_10 |
rs2304093 |
IMS-JST060982 |
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13181002 |
0.08 |
0.21 |
0.05 |
0.08 |
hCV15973534 |
AGGGGGTAGTACCCAGGTTCCTGCAGCCGCTGCCTGGCCC[G/C]CTCTGTCCCCTCTCCATGGAGGCCTCTCCCTTTCTTCTTC |
#N/A |
#N/A |
C___9320026_10 |
rs3765012 |
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13206657 |
|
|
0.36 |
0.42 |
hCV9320026 |
AGGAGGAGGGCACGTCTTGCATTGGAAGAGGAGGGTACAT[C/A]CTCTATGGGAACAGAAGGATGAAGGCAGGCACCCCACCCC |
C |
C |
C__15862853_10 |
rs2074879 |
IMS-JST002061 |
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13233589 |
0.43 |
0.35 |
0.4 |
0.32 |
hCV15862853 |
AAGTCACTAGGGTAAGGTCCCCCCAGCTTTCAGAAATAAG[T/C]GTTGGAGGAGTTGGACTCAATCCTGGCATTCTATGGATCT |
#N/A |
#N/A |
C____346304_1_ |
rs2074880 |
IMS-JST002062 |
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13233631 |
0.44 |
0.17 |
0.4 |
0.35 |
hCV346304 |
TTGGAGGAGTTGGACTCAATCCTGGCATTCTATGGATCTA[A/C]AACTCCCAGATGGGATACCAGAGATGCTTTTAAGTGATAC |
C |
C |
C__11968635_10 |
rs16030 |
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Silent
Mutation |
19 |
13248904 |
0.26 |
0.11 |
0.07 |
0.15 |
hCV11968635 |
ACTTATAATCTGCACTCACCTTGATCACCATCTCAAAGGT[A/G]AAGACGCCTGTAAAAACGTAGTCAAAGTATCGCAGCACCT |
G |
G |
C__15757146_10 |
rs2302081 |
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13254938 |
|
|
0 |
0.09 |
hCV15757146 |
AATGTCTTGCTCCCAAGAGCATCCCCAAGGAATCAGAGCT[G/T]CCCCTCTCAACCAGCAGCCATAAGGGCTATGCCTAGGGGT |
#N/A |
#N/A |
C___1455342_10 |
rs3764580 |
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13257110 |
0.19 |
0.02 |
0.37 |
0.28 |
hCV1455342 |
TCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAG[C/T]GGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCAT |
T |
T |
C___1455308_1_ |
rs2292037 |
IMS-JST044637 |
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13288805 |
0.19 |
0.45 |
0.49 |
0.45 |
hCV1455308 |
AGTAACATTGGCCCCAGTGACAGTTATAGAAATGGCTAAA[A/G]GAAAGGGCAGATTCAATGAGGACCAAAGAAGATACACATA |
G |
A |
C___1907486_10 |
|
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13300130 |
0.17 |
0.49 |
0.13 |
0.19 |
hCV1907486 |
GAACTCATTCTGCTTCCACTCGTGTGTGCATCTGTTTAAT[C/T]TCCTGTAAGCAAATGTCAAGAATTGGAGCGCTCAGTAGGT |
G |
G |
C__16193564_10 |
rs2306348 |
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13306144 |
|
|
0.27 |
0.36 |
hCV16193564 |
|
#N/A |
#N/A |
C___1907428_10 |
|
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13328645 |
|
|
0.5 |
0.5 |
hCV1907428 |
AACAGCTTGGACAAAGGGTCAGCCCAATTGGCCAAAACTC[A/G]CTGGGGAATTTTTGTGGGTTCTAGGTTTTTACTTTGCAAG |
C |
C |
C___1907422_10 |
|
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13335220 |
0.35 |
0.27 |
0.47 |
0.43 |
hCV1907422 |
AAGTTTGCTCAATATGGAATGTCCTAATTATTTCTTTCCC[T/C]GATGAAGAAGGTGTTAATTGAGGCAGAGCTATTTCTGCTC |
G |
A |
C___2589345_10 |
|
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13342788 |
0.35 |
0.26 |
0.33 |
0.49 |
hCV2589345 |
CGTTTAAGGGTGGCTGCCATATGCAGGGTCAAGATTAAGT[A/G]TAGGTTGAGCCAAAAAAAAATGTAAAAAGCAAAAATAAAA |
C |
T |
C___2589347_10 |
|
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13344914 |
0.36 |
0.23 |
0.09 |
0.19 |
hCV2589347 |
TTGCTGTGACCAACCTTCCATTAACCACAGACCCTCTGGT[G/A]TTCAGCATTTCTTGTCCATTATATGAAGTTCTGATGACAG |
C |
C |
C___8726155_10 |
rs1422259 |
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13400602 |
0.18 |
0.22 |
0.25 |
0.44 |
hCV8726155 |
CAAAGAAATACAAACATGAGGGCTCTCGGGGTCTACGTGA[T/C]TGGCTGTGACATCCATGAGAGCGGATCGCAGGTTGAAGGA |
G |
G |
C___2883402_10 |
|
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13409736 |
0.18 |
0.23 |
0.28 |
0.34 |
hCV2883402 |
GGCGTGCAAGGGAAGAGATTTCTTGTCTGCCATGCTGACA[C/T]GCACAGACACGCAACCTGGCTCCCTCTGTCCACTGGGGCT |
G |
G |
C___2883401_10 |
|
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13409789 |
0.2 |
0.26 |
0.43 |
0.25 |
hCV2883401 |
GCTTTTATCAAATCTCACTGTGATATCTGAGTTCTGAACC[C/T]TCACAGGTGGTTGGCGTGCAAGGGAAGAGATTTCTTGTCT |
A |
A |
C___8726161_10 |
|
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
Intron |
19 |
13418907 |
0.22 |
0.49 |
0.39 |
0.47 |
hCV8726161 |
TTCTAGATTGGGTTCCTTTCACATCCCCTTCTCCTTTCTT[T/G]TTGAATTCTCCATGCATTTCTTTCACTTGCTTTTCTTGCT |
C |
C |
C___2883238_10 |
rs2419720 |
|
calcium
channel, voltage-dependent, P/Q type, alpha 1A subunit |
CACNA1A |
|
19 |
13483333 |
0.09 |
0.01 |
0.27 |
0.29 |
hCV2883238 |
GGCAGTTCTGTACACAGCCAGCTTCTCTGCTGCCTAGGCA[C/T]GGTTTGGGGCATCCTGGAGGACTGTTCTTTGTCCTCCAGT |
A |
A |
C___3291186_10 |
|
|
|
|
|
19 |
13633030 |
0.31 |
0.38 |
0.46 |
0.38 |
hCV3291186 |
GTTATTAATAGGCTCCATCCTAACTCTTATCAGGACAATC[A/G]TCTCCTAATTCTAGGGCCTAGTTGTCTTTTCTGCCTGGAG |
A |
G |
C___2994131_10 |
rs426965 |
|
HSPC023
protein|hypothetical protein MGC3207 |
HSPC023|MGC3207 |
|
19 |
13755230 |
0.23 |
0.26 |
0.47 |
0.39 |
hCV2994131 |
GGCCTGTTTGATTGTCTTCTTAGCCAGGGTCACTTTCTGT[G/T]ACTTTCCTCTGTTTCTACTTTGCTTCTCAAGGACCCCGAC |
G |
G |
C___8725901_10 |
rs2607277 |
|
HSPC023
protein |
HSPC023 |
|
19 |
13759560 |
0.22 |
0.47 |
0.5 |
0.36 |
hCV8725901 |
TTTCTCTCCTGCCTCCACCTTCCCCCGCCTCGACCTGGCA[A/C]GACCACTTCTCCTGGCAGGGCCCTGACACTTTGCCCATGA |
A |
A |
C___3056941_10 |
|
|
|
|
|
19 |
13790049 |
0.29 |
0.17 |
0.34 |
0.47 |
hCV3056941 |
GCGTGTGCTGAGGCGCCGCCCCCTTCCCTCCCGGGAGCCA[A/G]TGAGCCAAGTGGTTGATGTTAAAGCGAGGGCGTCCCACCT |
A |
A |
C___3056948_10 |
|
|
|
|
|
19 |
13801838 |
0.27 |
0.42 |
0.31 |
0.44 |
hCV3056948 |
GTTGCAGAAAGAGGCTCCAAAGCTTAGCCTTCTACACACG[A/T]GATTCCCACCTAGTCCAGGTGCGCCCTGATGATTTGGAAA |
A |
A |
C___3056949_10 |
|
|
|
|
|
19 |
13801959 |
0.21 |
0.41 |
0.17 |
0.35 |
hCV3056949 |
GTGGCAGTGTCATGGTTAACCCACGCATACATGTACGTGT[C/G]TCTGCCCCCGCTCCTGACGGATTTCCCTCCCTCACCTCCC |
C |
C |
C__11518644_10 |
|
|
hypothetical
protein MGC11271 |
MGC11271 |
Intron |
19 |
13856526 |
0.17 |
0.4 |
0.28 |
0.21 |
hCV11518644 |
ACCTCCCCCACCCCACAGAACAGGTGCCACTCTCAGACAC[A/G]GGCAGTACAGGTGGCCAGGCGGGTAAGTGGGGGCCACCCG |
G |
G |
C___1654617_10 |
|
|
hypothetical
protein MGC11271 |
MGC11271 |
Intron |
19 |
13864896 |
|
|
0.27 |
0.21 |
hCV1654617 |
ATGAGTGAGCAATTGGTGACAAAGAAGGGAGACACAGAGC[C/T]GGAACTTTAAGGGAGGCAGTGGTGCTTCTATATCCACGAG |
T |
T |
C___1654628_10 |
|
|
putative
NFkB activating protein|hypothetical protein MGC11271 |
FLJ20241|MGC11271 |
IntronIntron |
19 |
13872187 |
0.16 |
0.34 |
0.3 |
0.22 |
hCV1654628 |
CAGGGCCAGCCCAGAGGTCCACTGAGCTGGGGAGTCTACC[A/G]CCAACAGAGGCCCCAAGTGACCTGCTGTGGGTGGACCTGG |
A |
A |
C___1654647_1_ |
rs3745457 |
|
putative
NFkB activating protein|hypothetical protein MGC11271 |
FLJ20241|MGC11271 |
IntronIntron |
19 |
13877774 |
0.17 |
0.43 |
0.29 |
0.22 |
hCV1654647 |
CCGGTGACAAGCCCCACACTGACACTACGCCGACCACCGA[A/G]AAGTGAGGACTCCACAGGCCGAGAGCCCACGTGAAGCCGG |
A |
A |
C___1654658_1_ |
rs2305778 |
IMS-JST063188 |
putative
NFkB activating protein|hypothetical protein FLJ23447 |
FLJ20241|FLJ23447 |
Intron |
19 |
13905287 |
0.07 |
0.01 |
0.09 |
0.07 |
hCV1654658 |
GTATTCAAGGCTATGCAGCTTGCTGGAAGGAGAGAGGGTC[A/G]GTGTTAGGTGGGGCACTTGGAGTGGGGTGCCTGACAGATT |
A |
A |
C___1654534_10 |
|
|
hypothetical
protein BC002926|hypothetical protein FLJ23447|regulatory factor X, 1
(influences HLA class II expression) |
LOC90379|FLJ23447|RFX1 |
Intron |
19 |
13930083 |
0.34 |
0.17 |
0.34 |
0.21 |
hCV1654534 |
ACCAGCCCAGGGAAAGGGCGTGGTCATCAGTGGGAGCTGC[C/T]GACACAGAGGGGTGCTTTCTTCCTTGGCCATTGTCACCTT |
T |
T |
C__22273403_10 |
rs3816553 |
|
regulatory
factor X, 1 (influences HLA class II expression) |
RFX1 |
Intron |
19 |
13953911 |
0.14 |
0.1 |
0.1 |
0.14 |
hCV22273403 |
GGATACATTGCTGACCTCGGGAGACAGCAGGGGGGAGGGC[G/A]GCCAACAGGACCACCACTTACCTCTGGGGGCGAGTGCACC |
A |
A |
C__16193024_10 |
rs2306192 |
|
relaxin
3 (H3)|interleukin 27 receptor, alpha|class I cytokine receptor |
RLN3|IL27RA|WSX1 |
Intron |
19 |
14004016 |
0.17 |
0.26 |
0.43 |
0.29 |
hCV16193024 |
|
#N/A |
#N/A |
C__16193025_10 |
rs2306190 |
IMS-JST063723 |
interleukin
27 receptor, alpha|class I cytokine receptor |
IL27RA|WSX1 |
Intron |
19 |
14023676 |
|
|
0.49 |
0.42 |
hCV16193025 |
GGGCTGGGGCATCTGGCCATCTGGATCTGCTGCCCTGACT[A/C]CTCCTGTCTTGCCAGGTGCTACCACCTAAGGCACAAAGTG |
A |
C |
C___1878989_10 |
|
|
interleukin
27 receptor, alpha|class I cytokine receptor |
IL27RA|WSX1 |
|
19 |
14033779 |
0.29 |
0.11 |
0.01 |
0.08 |
hCV1878989 |
CCCAGACACTTACATGGGTGTGGCCAGAGACCACACCTGG[C/T]TCTGCAGGGCCATCTCTGCCCAGAAGTTCACTTTCTGGTC |
T |
T |
C___1878977_10 |
|
|
|
|
|
19 |
14046962 |
0.33 |
0.47 |
0.37 |
0.24 |
hCV1878977 |
AGCACGGCGGGCCGAGGGAGGCCCGAGAAAACCCCAAGAG[A/G]TGCGGGCCGGAATGCGGGAATGCGCCCTTACCGCCCTGCT |
A |
A |
C___1878967_10 |
|
|
protein
kinase, cAMP-dependent, catalytic, alpha |
PRKACA |
|
19 |
14055458 |
0.36 |
0.26 |
0.41 |
0.27 |
hCV1878967 |
CTGCATACAAGAGGGGGGTACAGTGAGATCAGCTGGCCTG[A/C]GAGGAGTGGGCCTCCCCCTCCACCATCCCCACAGGCTCAG |
A |
A |
C___3099970_10 |
rs729372 |
|
ASF1
anti-silencing function 1 homolog B (S. cerevisiae)|protein kinase,
cAMP-dependent, catalytic, alpha |
ASF1B|PRKACA |
Intron |
19 |
14088928 |
0.12 |
0.03 |
0.05 |
0.07 |
hCV3099970 |
CAGACCTCATCGCATTCCCAAACTGGTAGAAACCTGGGTC[T/G]GGGTCAGGCAGAGGATCCCATAGGTGAGAGAGGTGAGTGA |
T |
T |
C__11514870_10 |
|
|
ASF1
anti-silencing function 1 homolog B (S. cerevisiae)|protein kinase,
cAMP-dependent, catalytic, alpha |
ASF1B|PRKACA |
Intron |
19 |
14099342 |
0.13 |
0.26 |
0.05 |
0.09 |
hCV11514870 |
TCCGGCAGGAGAGCCAGCCTGCAGGAGGGGGAAGGTGAGG[C/T]TGCTCAGGGAGCCAGCCACCCTGGTCTTCCAGATCTGGCA |
C |
C |
C___1878929_10 |
|
|
ASF1
anti-silencing function 1 homolog B (S. cerevisiae) |
ASF1B |
|
19 |
14108532 |
0.12 |
0.22 |
0.03 |
0.07 |
hCV1878929 |
AGCCAGTCCTGGAGCGCCGATCGGCGCGCGCCCAGACTCC[C/T]CGGACCAATCAGCGGAGCTCCCTCTCCGCAGCGTGTGAGG |
C |
C |
C___1878915_1_ |
rs2242222 |
IMS-JST014364 |
latrophilin
1|hypothetical protein FLJ11939 |
LPHN1|FLJ11939 |
Silent
Mutation |
19 |
14129799 |
0.1 |
0.04 |
0.03 |
0.07 |
hCV1878915 |
TCTTGTTGGACTCCACCAGGCGGCAGCCTTGGGTCGACCA[G/A]TAGCCCAGCATGGAACGCTCCGAGTAGTTCCAGAAGGAGC |
A |
A |
C___2884103_10 |
|
|
CD97
antigen |
CD97 |
Intron |
19 |
14355651 |
0.32 |
0.2 |
0.38 |
0.49 |
hCV2884103 |
AGAACCCAGCTCAGCCCATGCAGAGGGGATGGGGCACAAA[A/G]GAACCCTGCCCAGGGCCCTGAGGACCTCAATCCCTCAATT |
G |
A |
C___2884096_10 |
|
|
CD97
antigen |
CD97 |
Intron |
19 |
14367327 |
0.5 |
0.18 |
0.31 |
0.38 |
hCV2884096 |
CCCATTCAGCAGGGCCCACAGGTCTCTGTCCCTGGTGGAA[G/T]GACAAGGGATGAGAGGACAGATACATCTGCCACCCCTCAC |
T |
T |
C___2884095_10 |
rs3786657 |
|
CD97
antigen |
CD97 |
Intron |
19 |
14367632 |
0.49 |
0.2 |
0.33 |
0.43 |
hCV2884095 |
|
#N/A |
#N/A |
C___2884094_10 |
rs3786656 |
|
CD97
antigen |
CD97 |
Intron |
19 |
14367664 |
0.38 |
0.08 |
0.2 |
0.19 |
hCV2884094 |
CTGCATCGCGGGGGCACTGGCTTAGGGAGGGGTCTTGGTC[C/T]ATGCCCATGAAGCTGGGCTCTCAGAGCTAGTGTGGATGGG |
T |
T |
C___2884057_1_ |
rs1035395 |
|
protein
kinase C-like 1 |
PRKCL1 |
Intron |
19 |
14414995 |
|
|
0.09 |
0.09 |
hCV2884057 |
ACACCCATAGGCTCACACAAGCCATGTACGTAGTTACTCA[C/T]GGGCCTCTCAAATGCAGTGGACCCAGCACCAAGGACACAC |
T |
T |
C___2091427_10 |
rs3810252 |
|
regulator
of G-protein signalling 19 interacting protein 1 |
RGS19IP1 |
|
19 |
14469314 |
0.21 |
0.34 |
0.1 |
0.01 |
hCV2091427 |
GTGCATATCAGTCCCACCAGGACCTGCAGAGGGGCAAACT[G/A]AAATGGGAGATGGAACCTTGAGCTTTGCTGCTGAGGATTG |
G |
G |
C__11697044_10 |
rs4926222 |
|
DnaJ
(Hsp40) homolog, subfamily B, member 1 |
DNAJB1 |
Intron |
19 |
14488050 |
0.18 |
0.1 |
0.4 |
0.36 |
hCV11697044 |
TGGAAGCTGGCTCAAGAGGCTCAGCTCTTGCCCAGAGGCC[A/G]TCTGCCATAGATAAGACCCATCAGGCCTCTGCAGCTAAGA |
A |
A |
C___3281428_10 |
|
|
DnaJ
(Hsp40) homolog, subfamily B, member 1|glycoprotein, synaptic 2 |
DNAJB1|GPSN2 |
|
19 |
14495964 |
0.08 |
0.16 |
0.08 |
0.07 |
hCV3281428 |
GTTTAGCATACTGAGTGCTTACAGTAGACACTCAGCTTGT[A/G]TATAATGTGACTCAGATGATCATAAAGCCTTAATTTTAAG |
A |
A |
C__11697037_10 |
|
|
DnaJ
(Hsp40) homolog, subfamily B, member 1|glycoprotein, synaptic 2 |
DNAJB1|GPSN2 |
|
19 |
14497928 |
0.33 |
0.41 |
0.08 |
0.07 |
hCV11697037 |
ACACATCACATCTCTGGCATTCAAATGGTCTCGGGTTCCC[C/T]CCAAACCTGAGGTCCAGAAAAGCTCATCCTTGGAAGCTGC |
T |
T |
C___2843189_10 |
|
|
glycoprotein,
synaptic 2 |
GPSN2 |
|
19 |
14509309 |
0.22 |
0.22 |
0.06 |
0.01 |
hCV2843189 |
AGGGTTGACAGCCTTGAGTGAGGGCGGTGCTTGGAAAGGC[C/G]TTGCGACTCTGATAAGGTGGTTGGGTTTGGTCGGGAATCC |
G |
G |
C___2942458_10 |
rs8104167 |
|
|
|
|
19 |
14525933 |
0.37 |
0.31 |
0.17 |
0.13 |
hCV2942458 |
GCCCATGTGTGGTGGGGTATGGCCTGGCTTTCAACATGCA[C/T]GCGTGGTCTTCTGGGCTCTGGGATTTACTGCTTAGATCTT |
T |
T |
C___2942450_10 |
|
|
|
|
|
19 |
14530419 |
0.44 |
0.43 |
0.26 |
0.24 |
hCV2942450 |
ACAGGCCGGCAGAGCCACCAGCCTGTGCCCCAGGCCAGAG[C/T]GCCTGCCTGTCTGCCCGTTCCTGCCCTCTCCCTGCCCGTC |
C |
C |
C___2942448_10 |
|
|
|
|
|
19 |
14533697 |
0.4 |
0.3 |
0.17 |
0.13 |
hCV2942448 |
TGATCTGTCTCGCGGATTCTCAAAATAGCTGGGATTTCTC[G/C]AAGCCCAGTGAACTCCCTAGGCCTGAGCTGCGGGCTGGGG |
G |
G |
C___2942446_1_ |
rs3752221 |
|
NADH
dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa|glycoprotein, synaptic
2 |
NDUFB7|GPSN2 |
Intron |
19 |
14538312 |
|
|
0.16 |
0.19 |
hCV2942446 |
CCCCACCTTAGTCCCAGAGAGGGCTCTCTAGGGGCCTGTT[C/T]GATGGGGACAGGGCAGGTGGCTGAAGCCACCTAGGGGAGT |
G |
G |
C__25629976_10 |
|
|
egf-like
module containing, mucin-like, hormone receptor-like 3 |
EMR3 |
Intron |
19 |
14597288 |
0.27 |
0.19 |
0.06 |
0.02 |
hCV25629976 |
GCAGTGTCAAGAGAGGAGTATGTAAAACATTAGAACAATT[G/C]AGATGTTTCACTTACCTCACTGGGTTTTGAGTCAGGACCC |
G |
G |
C___1877410_10 |
rs2045912 |
|
egf-like
module containing, mucin-like, hormone receptor-like 3 |
EMR3 |
Intron |
19 |
14604902 |
0.47 |
0.45 |
0.39 |
0.41 |
hCV1877410 |
AAGTAATGTATGGTGTCCACTTTAAATTGCACACAGGAGT[C/T]CTACCCTCTTGTACATGGGACTGAATTGGTAGCAGGTGGA |
C |
C |
C___1877423_10 |
|
|
egf-like
module containing, mucin-like, hormone receptor-like 3 |
EMR3 |
Mis-sense
Mutation|UTR 3 |
19 |
14619168 |
0.32 |
0.34 |
0.26 |
0.27 |
hCV1877423 |
TATGATGTTTCCAAGAGAAGAATATGAGATAAAGGCAATG[A/G]CACTGGGACCTGAGGAAACAGAAAGATGGAATCTTTTTTC |
A |
A |
C___1877425_10 |
|
|
egf-like
module containing, mucin-like, hormone receptor-like 3 |
EMR3 |
Intron |
19 |
14620036 |
0.33 |
0.38 |
0.26 |
0.26 |
hCV1877425 |
AATCTATTTCTTCCTACAAAGGCTGTAGGTACGGTGGGCA[C/A]CCTGGCTCGAATCCCTGGCATTCTTGGTTTCTTTAATATG |
A |
A |
C_____34122_10 |
|
|
egf-like
module containing, mucin-like, hormone receptor-like 3 |
EMR3 |
Intron |
19 |
14640550 |
0.17 |
0.11 |
0.12 |
0.11 |
hCV34122 |
TTGCTCTCAGAACAGGCACTTTTCTCCAGCCCACTGGAGA[A/C]CATGAGTGGCTCCAGGTCCAGCCCTTGGTCCACAAGTTCT |
C |
C |
C___2843015_10 |
rs3850143 |
|
zinc
finger protein 333 |
ZNF333 |
Intron |
19 |
14673356 |
|
|
0.19 |
0.29 |
hCV2843015 |
TGAAGGAAGGAATGGATAAGGTGTTGCAGAAGGCATCTCC[A/G]GTTCCCATCCTCCACCTCCATGTCTCTCTTGCTCAGCAGG |
A |
A |
C___2843012_10 |
|
|
zinc
finger protein 333 |
ZNF333 |
Intron |
19 |
14676804 |
0.23 |
0.06 |
0.02 |
0.07 |
hCV2843012 |
TTGACTTCTGGCAGCCCTAAGCCCCAAACCAAAGGTCTCT[C/T]GGGCTGAGAACAGCTGTGGTGCCAACTCTGTCCTGCTCAG |
T |
T |
C___2558449_10 |
rs2524359 |
|
egf-like
module containing, mucin-like, hormone receptor-like 2|zinc finger protein
333 |
EMR2|ZNF333 |
|
19 |
14699552 |
|
|
0.09 |
0.16 |
hCV2558449 |
TTAGTTAAATATAACCAAATATCTGAGGCAGTGATTTACA[A/G]ACTTAAGAGTCCCAGTATCCTAATCATTTCCTTTAATCCC |
G |
G |
C___2558452_10 |
|
|
egf-like
module containing, mucin-like, hormone receptor-like 2|zinc finger protein
333 |
EMR2|ZNF333 |
|
19 |
14700160 |
0.36 |
0.24 |
0.43 |
0.45 |
hCV2558452 |
ACAGGCTGAAGACAGAAACCTCGCTGCTTAGTGTCTCTTC[T/C]TATGCTAGGGTGTGATGACAGTCTGTTTCTCTGAGGTCTG |
T |
C |
C__11512561_10 |
rs757295 |
|
egf-like
module containing, mucin-like, hormone receptor-like 2 |
EMR2 |
|
19 |
14703742 |
0.25 |
0.15 |
0.16 |
0.31 |
hCV11512561 |
GGATGCTGCCATCAGCTGACCCTAGAGTTTCCTCTGACCT[A/T]CCTTCCCCAACCTCGTCTGTGTTTCACTTCTGCCATGTCC |
T |
T |
C__11512578_1_ |
|
|
egf-like
module containing, mucin-like, hormone receptor-like 2 |
EMR2 |
Intron |
19 |
14723555 |
0.34 |
0.14 |
0.29 |
0.23 |
hCV11512578 |
CGATCAGATTTGAGTGTGGCCCATGGCTTCTCCTGTACCA[A/T]GTTGTTGGGGAGAATTCTGAGATATTTGATGGCATTATAG |
A |
A |
C___2583625_10 |
rs3795033 |
|
egf-like
module containing, mucin-like, hormone receptor-like 2 |
EMR2 |
Intron |
19 |
14736917 |
|
|
0.06 |
0.09 |
hCV2583625 |
TTATGGCCCCTCAGAGGCCAACACTTCTGTGCAATATCAA[T/C]GCTGACCTAAACCCAAAGTCCAGGGAAAGCAAGAGGAAAG |
C |
C |
C___2583630_10 |
|
|
egf-like
module containing, mucin-like, hormone receptor-like 2 |
EMR2 |
Intron |
19 |
14740034 |
0.46 |
0.3 |
0.46 |
0.47 |
hCV2583630 |
GAGCCCAGCTCCAGGCACATGGACCAAGACTGGCCCCTGA[A/G]CCAGTCCCCAGGGGAGCATGAGTCTGGTGCTGCATAGGCC |
A |
G |
C__11510255_10 |
rs1860032 |
|
egf-like
module containing, mucin-like, hormone receptor-like 2 |
EMR2 |
|
19 |
14756628 |
0.24 |
0.27 |
0.12 |
0.05 |
hCV11510255 |
CGCGCGCGTTCATCCTGTGCTCCCCTGCCTGTAATTCTCC[T/C]ACTAGGGTCAGAGTAGGGCTGGAAAAGCGAAAACCATAAC |
T |
T |
C__16177130_10 |
rs2240556 |
|
olfactory
receptor, family 7, subfamily A, member 5|olfactory receptor, family 7,
subfamily C, member 1 |
OR7A5|OR7C1 |
UTR
3 |
19 |
14798873 |
|
|
0.07 |
0 |
hCV16177130 |
TGGAAATCTCCAAAGTGTTTCTGATCCAAAGTCGGAAATA[C/A]CCTTGAGAAAGTAGGAAAACAACAAAGAGAAAAAACTGTT |
C |
C |
C___2953301_10 |
|
|
|
|
|
19 |
14826649 |
0.17 |
0.28 |
0.23 |
0.16 |
hCV2953301 |
GGCTCTCATTTTCCCGGAGCCTTTCCTGTAGTACCTACTG[C/T]GCACTTGGACTCACCCTGATGGATTTTCTGGAAGGAAGGT |
T |
T |
C___3275288_10 |
rs1029651 |
|
|
|
|
19 |
14839259 |
0.24 |
0.44 |
0.23 |
0.35 |
hCV3275288 |
TTCCAACCCTGAGCAGATCATTTTCCTTTGGGATTTTACC[T/C]TGCTCTGAATTGATTTTTTCCCTGCATTCTCTATTCCCAA |
T |
T |
C___3275293_10 |
|
|
olfactory
receptor, family 7, subfamily A, member 17 |
OR7A17 |
|
19 |
14845836 |
0.13 |
0.45 |
0.17 |
0.3 |
hCV3275293 |
ATAGCAGATGAAATAGATTTTTACAATTCCCTGTATCTAT[G/A]CATCAGACAAATTTCCCTTTTTTCACTCCAATCCATGAGC |
A |
A |
C____512612_10 |
|
|
|
|
|
19 |
14882032 |
0.45 |
0.27 |
0.29 |
0.42 |
hCV512612 |
TTTTTAGGTTTAAGAAGAGACATATTTGAGGATGTTTTCA[T/C]ATTGATGAGAAAGGTCTAAACCAATGAATTGCTTCCAAAT |
T |
T |
C__11512613_10 |
|
|
olfactory
receptor, family 7, subfamily C, member 2 |
OR7C2 |
|
19 |
14895186 |
0.38 |
0.39 |
0.22 |
0.21 |
hCV11512613 |
CATATATTAAAAATGCCCAAATTTGGTTGTTCTTGGTTGA[A/G]CTGTTGGTTTATTTCCTTTGCCCATTCTTTCCATGGGTAT |
A |
A |
C___2569656_10 |
rs715159 |
|
olfactory
receptor, family 7, subfamily C, member 2 |
OR7C2 |
|
19 |
14900519 |
0.49 |
0.4 |
0.43 |
0.38 |
hCV2569656 |
ATTCCTATGGAATAAACTACGCTTGGCACTGAGGCCATTT[A/G]TGTAATTTTATTGGAGAAGAATTTCTGAGGCTATGGTTTT |
G |
G |
C___2569687_10 |
|
|
olfactory
receptor, family 7, subfamily C, member 2|solute carrier family 1 (high
affinity aspartate/glutamate transporter), member 6 |
OR7C2|SLC1A6 |
Intron |
19 |
14922216 |
|
|
0.11 |
0.1 |
hCV2569687 |
ACGTTGGTCATTGTGCGAAGCCGGTCACTGGTACAGGGGA[G/A]AAAGAAGCTGCCATTAATGGGGGCTTGAAAAGCTTCACAG |
A |
A |
C___2569688_10 |
|
|
olfactory
receptor, family 7, subfamily C, member 2|solute carrier family 1 (high
affinity aspartate/glutamate transporter), member 6 |
OR7C2|SLC1A6 |
Intron |
19 |
14923223 |
0.38 |
0.33 |
0.41 |
0.4 |
hCV2569688 |
CCTGAGTCAATACAGGTGTAGACTAGGGCAGGCTGAAGAT[T/G]ATAAAATTGGAACTCAGGCTCAGCTGACAGCTCCCATGTG |
T |
T |
C___2569696_10 |
|
|
solute
carrier family 1 (high affinity aspartate/glutamate transporter), member 6 |
SLC1A6 |
Intron |
19 |
14924566 |
|
|
0.28 |
0.28 |
hCV2569696 |
ATTGCTTGTCTCCAACCCTACTTCCCAAAGATAACTGTGG[A/G]ATTTGGGGTCCAGAGGCCATGGATTGGAGGCCTCTCCAAG |
G |
G |
C___2569698_10 |
rs2269913 |
IMS-JST024256 |
solute
carrier family 1 (high affinityaspartate/glutamate transporter), member 6 |
SLC1A6 |
Intron |
19 |
14925858 |
0.34 |
0.11 |
0.28 |
0.25 |
hCV2569698 |
CCCGCTTCCAACATCCGTGGGCTCCTCTGAGCTCCAGCTG[A/C]GGCCCCCTCCTCCCTCCCCAACCCTCCCAGCCAAGCTGAT |
#N/A |
#N/A |
C___2569703_1_ |
rs2074615 |
IMS-JST001565 |
solute
carrier family 1 (high affinity aspartate/glutamate transporter), member 6 |
SLC1A6 |
Intron |
19 |
14928803 |
|
|
0.28 |
0.29 |
hCV2569703 |
TACAACTCCAGGATATACAAGCTTTCAGGTCTCTCCTGTA[C/T]CTACTCCCCATTCAAGCTCTCTCAATCCTGCCCCAAATAA |
C |
C |
C___2569724_10 |
rs2285980 |
IMS-JST036367 |
solute
carrier family 1 (high affinity aspartate/glutamate transporter), member 6 |
SLC1A6 |
Intron |
19 |
14943412 |
0.45 |
0.49 |
0.31 |
0.26 |
hCV2569724 |
CTGGGACCGATTGGGACCTGGGCTTTGTTTGGCCAAGGAC[C/G]CTGGACCAGACACAGGCTCCATGTTTGAGGTGCCGCGTCA |
#N/A |
#N/A |
C___7494231_10 |
|
|
solute
carrier family 1 (high affinity aspartate/glutamate transporter), member 6 |
SLC1A6 |
|
19 |
14945755 |
0.32 |
0.15 |
0.3 |
0.29 |
hCV7494231 |
AGTCCCTTGGGAATGAAATGATAATGATTCTTGGCCACAG[C/T]GTGATGTTCATGAGCCCCTCTGGGGTGGCAGGCACTGTAC |
T |
T |
C___2569743_10 |
rs1548543 |
|
solute
carrier family 1 (high affinity aspartate/glutamate transporter), member 6 |
SLC1A6 |
|
19 |
14949026 |
0.34 |
0.22 |
0.31 |
0.29 |
hCV2569743 |
TCTGAACAGTCAGGAAAACTCCCGAGGCTAGAGTTTTGTC[C/T]GGTTCCTTTCTCTTCCTTACAAGACATAATACGGTATTGA |
C |
C |
C___2569843_10 |
|
|
hypothetical
protein FLJ40365 |
FLJ40365 |
Intron |
19 |
14984697 |
|
|
0.19 |
0.22 |
hCV2569843 |
AGTGCCCCAGTCCTAGTGAAAACACACTCCCAACTCCCAG[C/T]TGAGGAGAGCGGCTGATACCCTTGTCCCAACCCAGGTGAA |
T |
T |
C__11512815_10 |
|
|
hypothetical
protein FLJ40365 |
FLJ40365 |
Intron |
19 |
14992668 |
0.32 |
0.26 |
0.04 |
0.13 |
hCV11512815 |
CAGCTTTTCCCCCTGCACTCTCCTGCCCACACTCGCTGAG[A/G]ACTCAGTCATTCACAGGCTCTGCTTTTTTTTTTTTTCCTT |
A |
A |
C___2267135_10 |
|
|
hypothetical
protein FLJ40365 |
FLJ40365 |
Intron |
19 |
14993545 |
0.33 |
0.26 |
0.06 |
0.14 |
hCV2267135 |
CACCCACGGTCTCATCAAGGTACGGTTCGGGGTGAGAGCC[T/C]TCGGGGGTGGAGGCAGGGGTGCCGGTGGGTGGAGGCTGGG |
C |
C |
C__16174705_10 |
rs2239364 |
IMS-JST010492 |
caspase
14, apoptosis-related cysteine protease |
CASP14 |
|
19 |
15023916 |
0.1 |
0.05 |
0.09 |
0.13 |
hCV16174705 |
TGCCCAGATCTGTCCACAGACCAAATCCCCACCACTTGAG[A/T]GCTATTTGGTCTCAAAAATCCAGATACATAAGCCAGTTTG |
A |
A |
C___2563882_10 |
|
|
caspase
14, apoptosis-related cysteine protease |
CASP14 |
|
19 |
15029964 |
0.34 |
0.14 |
0.37 |
0.34 |
hCV2563882 |
TACCCCTCTTCCACTACCTCCCACCCCTACTTTTTCCAGA[T/A]AGCCATTTCCTCTCTTTTTTCTGATTGATCCTTCCCTCTC |
T |
T |
C___2577090_10 |
|
|
hypothetical
protein FLJ13511 |
7h3 |
|
19 |
15070603 |
0.26 |
0.08 |
0.46 |
0.49 |
hCV2577090 |
AAACCTGACCGGTCCCTCCACCTGCATTTTGTCTTTCAAC[A/G]AATGGGTCTGTATGTGCCTGCGGGTGGTTAACCCACCAGG |
G |
A |
C__11453454_1_ |
rs3746205 |
|
hypothetical
protein FLJ13511|ilvB (bacterial acetolactate synthase)-like |
7h3|ILVBL |
UTR
3 |
19 |
15086348 |
0.36 |
0.36 |
0.48 |
0.49 |
hCV11453454 |
CTGGGGCTTATAGAGAAACAGCTGGTTTCCCCTACCCTTT[T/C]CCGGGGAAGACCCCACGATTGGCCTCTAGTCAGCAAATGG |
T |
C |
C___2554179_1_ |
rs2074262 |
IMS-JST001029 |
hypothetical
protein FLJ13511|ilvB (bacterial acetolactate synthase)-like |
7h3|ILVBL |
|
19 |
15087970 |
0.49 |
0.2 |
0.46 |
0.44 |
hCV2554179 |
TGCCCACTGCCCCAGGCGGGGGCCCTTCCTTACCAGGATC[A/G]AGCCAGCGCAGGGGGCCGCGGGGCTGTACCAGATGGGCAG |
A |
A |
C___2554186_1_ |
rs2074265 |
IMS-JST001032 |
hypothetical
protein FLJ13511|ilvB (bacterial acetolactate synthase)-like |
7h3|ILVBL |
|
19 |
15094581 |
0.47 |
0.24 |
0.43 |
0.37 |
hCV2554186 |
TGGCTGGCACCATCTCCTTCTGGACCATGAAGTAGGGGTA[C/A]AGCACGTCAACGGGCAGCTCCACAAACACCGGACCTGCAG |
C |
C |
C___2554187_1_ |
rs2074266 |
IMS-JST001033 |
hypothetical
protein FLJ13511|ilvB (bacterial acetolactate synthase)-like |
7h3|ILVBL |
|
19 |
15094631 |
0.44 |
0.46 |
0.43 |
0.36 |
hCV2554187 |
ACGGGCAGCTCCACAAACACCGGACCTGCAGGGACAGGGA[A/G]GACGCTGAGTCCATAACATGTCCCCAGCCCCTCGGCCCCA |
G |
G |
C___2554188_1_ |
rs718100 |
IMS-JST057852 |
hypothetical
protein FLJ13511|ilvB (bacterial acetolactate synthase)-like |
7h3|ILVBL |
|
19 |
15095635 |
0.42 |
0.46 |
0.43 |
0.38 |
hCV2554188 |
CTCTTACAGCTGAGGACATCAAGGCTTGCCCAAGTAAGAC[G/T]GAAAGTTCAATAGAACCCACGCTCTTAAGTGCCCCACTGT |
T |
T |
C___2554204_10 |
|
|
ilvB
(bacterial acetolactate synthase)-like |
ILVBL |
|
19 |
15107479 |
0.45 |
0.44 |
0.44 |
0.39 |
hCV2554204 |
CATGAACCCCCTCAAAATTGTACCAGCAAGAAACGAGAAA[A/G]CTTCAGAAATGGCTTTGGGGCATAGAAGACAATGAAGGGC |
A |
A |
C___2554214_10 |
|
|
|
|
|
19 |
15113881 |
|
|
0.21 |
0.22 |
hCV2554214 |
GGTCCCATTTTCCTGCTGCTTGTAAAGAGACAGAGAGGAG[A/G]CAACAGAATAGGTAAAATAGAGTGATTAATAAGGGTCTGC |
G |
G |
C___2569909_10 |
rs12082 |
|
Notch
homolog 3 (Drosophila) |
NOTCH3 |
UTR
3 |
19 |
15131636 |
|
|
0.07 |
0.08 |
hCV2569909 |
AGGATTACCAGGAAGAGAAAGTACCACTCAGGCAGCTCCT[T/C]TTCTTGTAGTCCCACATTTACAGGGACACAAAGGAATGCA |
T |
T |
C___7494167_1_ |
rs1548555 |
IMS-JST001576 |
Notch
homolog 3 (Drosophila) |
NOTCH3 |
Intron |
19 |
15139057 |
0.09 |
0.02 |
0.23 |
0.17 |
hCV7494167 |
GATGGGTGAGGGGCATCCCTTTGGGAGGGGCACTGTCACT[A/G]ACCTGGGCCACGCACATTGACATCCATGCCATCAGCATCT |
A |
A |
C____461458_10 |
|
|
abhydrolase
domain containing 9|hypothetical protein FLJ22408 |
ABHD9|FLJ22408 |
|
19 |
15189028 |
0.15 |
0.11 |
0.05 |
0.14 |
hCV461458 |
ATGGAGCGTCTGCAGCTCTGTGGCTCTGGGAAAGGGTAGA[G/A]GGGAGGCCATTCTCAACCCCTTCTGGGGGTGCTGGTTTCC |
A |
A |
C___2577204_10 |
|
|
bromodomain
containing 4|abhydrolase domain containing 9|hypothetical protein FLJ22408 |
BRD4|ABHD9|FLJ22408 |
Intron |
19 |
15212749 |
|
|
0.31 |
0.36 |
hCV2577204 |
CTCCCAGCCTAGCCTCATGCCCATCTCCTTCCACTGTCTG[C/T]CAGCACAGGCACCCTTGGGTTCTCCAGGAGCCCTGCTGGC |
T |
T |
C___2577207_10 |
rs4808272 |
|
bromodomain
containing 4|abhydrolase domain containing 9|hypothetical protein FLJ22408 |
BRD4|ABHD9|FLJ22408 |
Intron |
19 |
15213372 |
|
|
0.41 |
0.41 |
hCV2577207 |
ATGCCCCATCCTAGCCTGCTGGGGCTTGGGTCACGGCCAG[G/A]GACCTGAAGTAGAGCTGGCTGGAGAAGACCTGCCTCAGCC |
G |
G |
C___2577216_1_ |
rs3746202 |
|
bromodomain
containing 4 |
BRD4 |
Intron |
19 |
15231101 |
0.19 |
0.07 |
0.1 |
0.05 |
hCV2577216 |
TGAAGGGAGATAATCAGCTATGCCTCCCAGGACAAAGGGA[A/G]TGCCCTCTACTGAGTGGTAGCTACCTCAGCGAACTGGTCT |
A |
A |
C___2658926_10 |
|
|
A
kinase (PRKA) anchor protein 8-like|bromodomain containing 4|neighbor of
A-kinase anchoring protein 95 |
AKAP8L|BRD4|NAKAP95 |
Intron |
19 |
15375660 |
0.24 |
0.06 |
0.37 |
0.41 |
hCV2658926 |
CTGTCACAGAGAGAGAAGACCCTAGCCACTGAAGCTAGAT[A/G]GGCCCTGGTCATTCTGATGAGGGCCTCCTGTTAAGGAGTA |
A |
A |
C___3276712_10 |
rs3786853 |
|
widely-interspaced
zinc finger motifs|A kinase (PRKA) anchor protein 8-like|bromodomain
containing 4|neighbor of A-kinase anchoring protein 95 |
WIZ|AKAP8L|BRD4|NAKAP95 |
Intron |
19 |
15389983 |
0.21 |
0.06 |
0.4 |
0.34 |
hCV3276712 |
AACCACTCCACGTAGTGGAGCGACCCCCGCACGGTACTGA[C/T]CACCCTAAAATATATCCTACACTCGCTTATTTGCCTATTA |
T |
T |
C___8156980_10 |
|
|
hypothetical
protein FLJ39501|hypothetical protein FLJ39501 |
FLJ39501|FLJ39501 |
|
19 |
15479771 |
0.44 |
0.3 |
0.25 |
0.35 |
hCV8156980 |
TTGGCGGGGAGCAGAACCAGTCTGGTGCTGCTTGTTGAGG[C/T]TGGAGGTCTTCCTGGAGGAAGAGGCTGCAGAGCCTCCAGG |
T |
T |
C__11457541_10 |
rs2060261 |
|
hypothetical
protein FLJ39501|hypothetical protein FLJ39501 |
FLJ39501|FLJ39501 |
Intron |
19 |
15482180 |
0.07 |
0.12 |
0.11 |
0.17 |
hCV11457541 |
ATGGCCAGGTCACAATAATGAACGTGATGGCAGCACCAAC[A/G]GTAATGAGAGATATCATTGATCAAAGGCTTACTATGTGCC |
G |
G |
C___7494110_10 |
|
|
hypothetical
protein FLJ39501|hypothetical protein FLJ39501 |
FLJ39501|FLJ39501 |
Intron |
19 |
15490669 |
0.07 |
0.07 |
0.11 |
0.18 |
hCV7494110 |
GGCTGTGTGTGCAGAATGGACTTCTTGCAGGGAGAAAGGA[C/T]GGAACTCAGGGGACCAGTGGGAACGGGCCACTGCAGTGCT |
T |
T |
C___1827039_10 |
|
|
hypothetical
protein FLJ39501|hypothetical protein FLJ39501 |
FLJ39501|FLJ39501 |
Intron |
19 |
15502030 |
0.44 |
0.42 |
0.23 |
0.23 |
hCV1827039 |
GGTTCTGACATTCCCATTATGGCCAGGACTCTTGGTGACT[T/C]AGCCTGCAGCCTGCTGTCATCACTTGGGCTGACTCTGACT |
T |
T |
C___8156883_10 |
|
|
hypothetical
protein FLJ39501|hypothetical protein FLJ39501 |
FLJ39501|FLJ39501 |
Intron |
19 |
15510509 |
0.5 |
0.45 |
0.1 |
0.02 |
hCV8156883 |
GCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTC[G/A]TTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAG |
G |
G |
C___8156739_10 |
|
|
hypothetical
protein FLJ39501|hypothetical protein FLJ39501 |
FLJ39501|FLJ39501 |
|
19 |
15532747 |
0.1 |
0.08 |
0.44 |
0.48 |
hCV8156739 |
TTCTCCCCAGACCTAGCTGGGCACCTACCCTGTTGCCTCC[C/T]ACCTACTCCAGGGGGCCCTGGCCTTGCCCCTGGCTCGTCT |
T |
T |
C___8156690_10 |
|
|
|
|
|
19 |
15537750 |
0.34 |
0.29 |
0.11 |
0.13 |
hCV8156690 |
CTGGCCAATGGGACTTTCTTTCCTGGCCATTTGGAAGACC[G/T]TTGCCTTAGATGAGCTCAATCGCCCATGTTCTGTCTTTAT |
G |
G |
C___7494066_10 |
rs1273516 |
|
|
|
|
19 |
15538710 |
0.39 |
0.38 |
0.49 |
0.44 |
hCV7494066 |
ATCCTGTCCCTCAGCACGTCTGCTGGTGCTGCCTGGCACA[G/A]TCTCTCCTCCGTCAATTCCTTCTCTGAGTCCTCCTGCCTC |
A |
A |
C___2604530_10 |
|
|
|
|
|
19 |
15549049 |
0.18 |
0.1 |
0.17 |
0.27 |
hCV2604530 |
ATGAGAACATAAGAGCGGAGGCTGACACCTTCATGTCTGG[T/G]GGTGAGGGTCCCAGGGTGTGATGTCACTAGGGGTAGGAGT |
T |
T |
C___7493986_10 |
rs1474473 |
|
cytochrome
P450, family 4, subfamily F, polypeptide 8 |
CYP4F8 |
|
19 |
15581685 |
0.2 |
0.22 |
0.14 |
0.14 |
hCV7493986 |
CAGCTTCAATAAGGCAGAACTTTGCCTAAAACAGGAAGTT[G/C]GTTGATTTCAGGAGAAACTTATCTGTTGCATCCAGCAGGG |
G |
G |
C___2604766_10 |
|
|
cytochrome
P450, family 4, subfamily F, polypeptide 8 |
CYP4F8 |
Intron |
19 |
15597903 |
0.11 |
0.17 |
0.13 |
0.16 |
hCV2604766 |
TATGATTTGCAGCACCGTGGTTCTAAGTACATTTATTCTC[T/C]TGCTTTTAGCTATGATCTAGTCCTTTTCTCTTCAGTTCTG |
C |
C |
C___7496750_10 |
rs1022414 |
|
cytochrome
P450, family 4, subfamily F, polypeptide 3|cytochrome P450, family 4,
subfamily F, polypeptide 8 |
CYP4F3|CYP4F8 |
|
19 |
15603373 |
0.2 |
0.32 |
0.24 |
0.28 |
hCV7496750 |
GTATCTACAACATCCCTGAGCCACATCTGTTGGGTATTAG[T/C]GGTCCATGAGGGTTAATTGCCTCTCTTTCTCTTCTTTTTG |
C |
C |
C___2604778_10 |
rs3794987 |
|
cytochrome
P450, family 4, subfamily F, polypeptide 3|cytochrome P450, family 4,
subfamily F, polypeptide 8 |
CYP4F3|CYP4F8 |
|
19 |
15611891 |
0.4 |
0.33 |
0.17 |
0.23 |
hCV2604778 |
TCTTAGGAGCCCTCATTGTCCCCCGCTAAGGCCCTCATCG[G/A]ACATCCCATTTCCCAGATGGGAAGACTGCACCCAGGAGGG |
G |
G |
C___7496758_1_ |
rs1290617 |
IMS-JST000024 |
cytochrome
P450, family 4, subfamily F, polypeptide 3 |
CYP4F3 |
Intron |
19 |
15612897 |
0.4 |
0.32 |
0.35 |
0.32 |
hCV7496758 |
CACATTCTCCATTGCTGCCCAAGGCCCAGGCAGCTCCTGG[G/T]TGCTGGCTTGGAGGATGAGTGGTTTTCTAACTGAAACCAA |
G |
G |
C___2604796_10 |
rs2683037 |
|
cytochrome
P450, family 4, subfamily F, polypeptide 3 |
CYP4F3 |
Intron |
19 |
15623938 |
0.29 |
0.17 |
0.15 |
0.13 |
hCV2604796 |
GGGCACCAGCTTTGTGAGAGATTATGTGCTTTGTTCTGGA[T/A]GCCATATTCCATAGACTTACAACTCAAATGTCTCCAGGGA |
A |
A |
C___2604827_10 |
rs1543286 |
|
cytochrome
P450, family 4, subfamily F, polypeptide 12|cytochrome P450, family 4,
subfamily F, polypeptide 3 |
CYP4F12|CYP4F3 |
|
19 |
15637945 |
|
|
0.26 |
0.35 |
hCV2604827 |
CAATTTGGTTACCCCTGGGGAGGGATTCTTGGGGAGAAAA[T/C]GAAGAGGCTGGAATAGTGTGCCTTGGTGGTTGGGTTTGGG |
T |
T |
C__22272216_10 |
|
|
olfactory
receptor, family 10, subfamily H, member 2|olfactory receptor, family 10,
subfamily H, member 3 |
OR10H2|OR10H3 |
Silent
Mutation |
19 |
15700459 |
0.18 |
0.17 |
0.1 |
0.19 |
hCV22272216 |
GTGGAAATAATGTACCAGCTGTGGCCCTGGGCGTGGGCTT[A/G]GTATGTATCATGGCACTGCTGGGCTGTTTTCTCCTCATCC |
A |
A |
C___2568486_10 |
|
|
olfactory
receptor, family 10, subfamily H, member 3|olfactory receptor, family 10,
subfamily H, member 2 |
OR10H3|OR10H2 |
|
19 |
15721726 |
0.18 |
0.23 |
0.09 |
0.18 |
hCV2568486 |
TGCTCGAGAATCTTCTCCTCCAGGACTACTGGGCAAGGTC[T/C]AGTGCAAAGGAGTTCCCCAACACTTTTATCTACTTTCATT |
T |
T |
C__11510851_1_ |
rs3752148 |
|
|
|
|
19 |
15741714 |
0.17 |
0.24 |
0.09 |
0.18 |
hCV11510851 |
AGATGAAAGGACCCCTGTCCTCACTGTAGTCCCACACTGG[C/G]AGCCTCACCTGCAAACATGAAGGTGTCAGCCTCTGCTCTT |
G |
G |
C___7495799_10 |
rs1465708 |
|
|
|
|
19 |
15747542 |
0.2 |
0.28 |
0.26 |
0.48 |
hCV7495799 |
ACTGGAGATTCTTGAGGCCTACAGGAGGACAGCAGTGAGC[A/G]TAGGGTGGATGAGTGACAGGATGAGGTAGAAGGAACTGAC |
A |
A |
C___8150964_10 |
rs754696 |
|
|
|
|
19 |
15763419 |
0.34 |
0.44 |
0.18 |
0.3 |
hCV8150964 |
GTGATCTCATTTTATTTATTCCCATTTATCATCATGTCTC[A/G]CTTCTACTTCCCTTCCCTGCCCCCACCACAGACAGCTGTT |
A |
A |
C___2564548_10 |
rs916961 |
|
olfactory
receptor, family 10, subfamily H, member 1 |
OR10H1 |
|
19 |
15783757 |
0.42 |
0.48 |
0.09 |
0.06 |
hCV2564548 |
TGAATCCCTGAAGCCAAGGACTGTTGTGTCTACAGCACCA[G/A]TGCTGTGTACTCAACAACAACACCGATGAGAGCAGCTGCC |
A |
A |
C__11970310_10 |
rs1859300 |
|
|
|
|
19 |
15808062 |
0.34 |
0.41 |
0.33 |
0.47 |
hCV11970310 |
AAAAGTAGCGGCACAAAGGCTTTTGTAAACAGAGGCGTTT[T/C]ATGTGGTTTTCCTTTCCTTTCCTTATATGTGAAAAGGTGA |
C |
T |
C___7495793_10 |
rs916957 |
|
|
|
|
19 |
15808217 |
0.34 |
0.41 |
0.33 |
0.47 |
hCV7495793 |
GAAACGTACAACAAAGGGACTAACAGTTGAGAACCATGTG[A/G]ATTGCAGTGGAGACGCTGGCGTTAGAGAATGCGGGGAGGG |
G |
A |
C___2577002_10 |
|
|
|
|
|
19 |
15818300 |
0.41 |
0.43 |
0.42 |
0.41 |
hCV2577002 |
CCCTCTCAGAGCTCTGGAAACCTTCCCCTCCATCTACTCC[A/G]GCAGCATGGGAAGTTCACGGGGGCCACAGCTGGCACCAAG |
G |
A |
C___2577038_10 |
|
|
|
|
|
19 |
15839586 |
0.39 |
0.14 |
0.28 |
0.29 |
hCV2577038 |
CATACAGAAGCACAGTCCGACTGGGACCCAACTGTGTCAG[C/T]GTCACTCCCAGATACCTTGCCTATCAGCACTTCCTTATGA |
T |
T |
C___8166045_10 |
|
|
cytochrome
P450, family 4, subfamily F, polypeptide 2 |
CYP4F2 |
|
19 |
15843414 |
0.38 |
0.14 |
0.27 |
0.31 |
hCV8166045 |
CAAGCAGCCCCTGCTGGCTTTAGATGAGACTCAGGCAGAG[A/G]TGACAAACATTTTATTCCTGGGAATCTGCAAAGGTGGGTG |
A |
A |
C___2583813_10 |
rs1558139 |
|
cytochrome
P450, family 4, subfamily F, polypeptide 2 |
CYP4F2 |
Intron |
19 |
15858564 |
0.5 |
0.46 |
0.33 |
0.43 |
hCV2583813 |
TTGGGTTGTAAGGCTAAGGACTATGGCATCTCACTGAAGA[A/G]GATTTGTTTATGCTCCAGAACAAAGCACACCATCTCTCAC |
A |
A |
C___7494699_10 |
rs1060467 |
|
cytochrome
P450, family 4, subfamily F, polypeptide 11 |
CYP4F11 |
UTR
3 |
19 |
15885538 |
0.37 |
0.28 |
0.18 |
0.23 |
hCV7494699 |
TTTGTTTCTGGGACTCTACAGAGGTGGGTGGGTGGGTAGG[G/A]CAGTCACTGTGAGTTCGCACCCAGGGGCTCCACCCGCAGC |
G |
G |
C___8161585_10 |
|
|
cytochrome
P450, family 4, subfamily F, polypeptide 11 |
CYP4F11 |
Intron |
19 |
15894379 |
0.43 |
0.36 |
0.18 |
0.23 |
hCV8161585 |
CCAGAAACCCAAGCCCATCATGCACTCCTAGATGTCTCTT[T/G]GTCACCACCATCAGAGCCCACCACCCACAGGCTTCCCGCT |
T |
T |
C__11512880_10 |
|
|
cytochrome
P450, family 4, subfamily F, polypeptide 11 |
CYP4F11 |
|
19 |
15906749 |
0.44 |
0.45 |
0.38 |
0.42 |
hCV11512880 |
GAGGCTGGGCTGGGCTGGTCGAGCCAATCCCCATGGACTG[A/G]GTGTGTCTTCCAAGCCTGGGCAACCAACCAAAACCTGGCG |
A |
A |
C___8161512_10 |
|
|
cytochrome
P450, family 4, subfamily F, polypeptide 11 |
CYP4F11 |
|
19 |
15912902 |
0.3 |
0.43 |
0.1 |
0.09 |
hCV8161512 |
CTTCCATGTCATAAGCGTGGTCTTTTCATGTGGGATACGT[T/C]GTCCAGTAAAGTTCCTCATTGTCCAGGTGATTCTGTGTTC |
C |
C |
C___8161443_10 |
rs1019943 |
|
|
|
|
19 |
15930161 |
|
|
0.37 |
0.37 |
hCV8161443 |
TTGTAAAGATATTTGTCAGAGATAAAGGTGTGGTTATGAC[T/A]ACGTAGGAGTTGTTCTTACAACTCCTTTCTCAGAGAATGC |
A |
A |
C___2576992_10 |
rs1076262 |
|
hypothetical
protein FLJ25328 |
FLJ25328 |
|
19 |
16002989 |
0.3 |
0.38 |
0.06 |
0.15 |
hCV2576992 |
TCTCTAGATCCAGACTCCACGGGAAGGGCTTGGGATGCCT[G/A]GCACAAAGGATGCCTGGTGTGACAAACATCCCTCCATTCC |
A |
A |
C__16006818_10 |
rs2278006 |
IMS-JST025133 |
tropomyosin
4 |
TPM4 |
Intron |
19 |
16050243 |
0.44 |
0.34 |
0.22 |
0.12 |
hCV16006818 |
GATGCCCAGCCAGATGGAATTGGTGGTGTGAATTGCCAGG[A/T]CTGGAAAGAGCCCAGATGGGGGCTGCAGCATGGGCCTTGG |
T |
T |
C__15971096_10 |
rs2303150 |
IMS-JST059715 |
tropomyosin
4 |
TPM4 |
Intron |
19 |
16058377 |
0.07 |
0.02 |
0.05 |
0.09 |
hCV15971096 |
GCAAATACGAGGAGGTGAGTGGGGCTGGCAGATGGCGCAG[T/C]AGCAGGAAGTGGGAGGAAATGCATCTGCTGAGATAGGGAG |
T |
T |
C__11970737_1_ |
rs1862603 |
IMS-JST013261 |
RAB8A,
member RAS oncogene family|mel transforming oncogene (derived from cell line
NK14)- RAB8 homolog |
RAB8A|MEL |
Intron |
19 |
16090236 |
0.12 |
0.03 |
0.24 |
0.42 |
hCV11970737 |
CATTTCTTGGTGCCCAGTCCTGGCACATGGGGCTTTCTCC[A/G]GAAGCTCCTGGAGGTTTATACCCAGCCCAGAGAGCTGTCC |
G |
G |
C___3057083_1_ |
rs1043308 |
IMS-JST013263 |
RAB8A,
member RAS oncogene family|mel transforming oncogene (derived from cell line
NK14)- RAB8 homolog |
RAB8A|MEL |
Silent
Mutation |
19 |
16099279 |
0.3 |
0.24 |
0.27 |
0.43 |
hCV3057083 |
CCTCTCAGCACGCCTCTGCAGACGTCGAAAAGATGATACT[T/C]GGGAACAAGTGTGATGTGAATGACAAGAGACAAGTTTCCA |
T |
T |
C___1655376_10 |
|
|
hematopoietic
SH2 protein|calcium and integrin binding family member 3|DNA-dependent
protein kinase catalytic subunit-interacting protein 3 |
HSH2|CIB3|KIP3 |
Intron |
19 |
16126494 |
0.21 |
0.1 |
0.06 |
0 |
hCV1655376 |
ATTAAAATTCAAACTACAATCTGAGGTCCTCTTTCTGCCT[A/G]TCACCTACCCAGCGCCAGCCCTGCTGCCATACCGTCTGTT |
G |
G |
C___1655354_10 |
|
|
hematopoietic
SH2 protein|calcium and integrin binding family member 3|DNA-dependent
protein kinase catalytic subunit-interacting protein 3 |
HSH2|CIB3|KIP3 |
Intron |
19 |
16136515 |
0.18 |
0.11 |
0.06 |
0 |
hCV1655354 |
TAAGAGCCCCTTCAGATGTGCAAATGGACTGTGGGCGGTG[G/A]CGGAGAGCATCACCTGAGGAAGTCTGGTGCCCGGAGGATC |
A |
A |
C___1655202_10 |
|
|
adaptor-related
protein complex 1, mu 1 subunit |
AP1M1 |
Intron |
19 |
16195014 |
0.2 |
0.38 |
0.28 |
0.21 |
hCV1655202 |
ACGCCCAGGAGATCTGACCAGGAAATGGCACGGGGGCTTT[A/C]AAAACTGACGTGATGCTCATGGCCTACAGGTTGGGGATTG |
T |
T |
C___1655182_1_ |
rs2279060 |
IMS-JST026607 |
adaptor-related
protein complex 1, mu 1 subunit |
AP1M1 |
Intron |
19 |
16205528 |
0.21 |
0.37 |
0.28 |
0.24 |
hCV1655182 |
GTGGGGAGGCAGAGGCCCACAGCACAGCAGGGTCCTGATT[C/G]CAGCTGACTGACACCCTTTCCCAAGCTGGCTGCATTGATA |
C |
C |
C___1655179_10 |
rs8374 |
|
adaptor-related
protein complex 1, mu 1 subunit |
AP1M1 |
UTR
3 |
19 |
16206822 |
|
|
0.29 |
0.24 |
hCV1655179 |
|
#N/A |
#N/A |
C___1654467_10 |
|
|
epidermal
growth factor receptor pathway substrate 15-like 1|epidermal growth factor
receptor substrate EPS15R |
EPS15L1|EPS15R |
Intron |
19 |
16346829 |
0.03 |
0.3 |
0.42 |
0.28 |
hCV1654467 |
GCACATATATAAGCATGGAGGGTGTGCATGCCCAGCTGTT[A/G]TCTATGAGAGCATGTGTGTGTGCAGGCATGCACAATGCAG |
A |
A |
C__15885236_10 |
rs2290669 |
|
epidermal
growth factor receptor pathway substrate 15-like 1|epidermal growth factor
receptor substrate EPS15R |
EPS15L1|EPS15R |
Intron |
19 |
16356774 |
|
|
0.43 |
0.34 |
hCV15885236 |
ATGCCACTGGGAAGGGTCAGGGCTCACCCCACGGGACTGC[A/C]GTGCATTGGATCACAGCCATGGATGCTTTCCAGACCTGAC |
C |
A |
C__11459169_1_ |
rs1870071 |
IMS-JST042720 |
epidermal
growth factor receptor pathway substrate 15-like 1|epidermal growth factor
receptor substrate EPS15R |
EPS15L1|EPS15R |
Intron |
19 |
16366106 |
0.3 |
0.44 |
0.46 |
0.3 |
hCV11459169 |
CACAGACTGGAGTTGGGGAAGACACAGAGTGGGCTAGAAT[T/C]CACTCCTCTCTTCCCATGCTGGGTTTCCTTTATCCCATCT |
T |
C |
C___2885433_1_ |
|
|
calcium
homeostasis endoplasmic reticulum protein|hypothetical protein FLJ21742 |
CHERP|FLJ21742 |
UTR
3Intron |
19 |
16489850 |
|
|
0.16 |
0.1 |
hCV2885433 |
CAGCTACAGGAAATCTAGAACAAAATCAAATATTCATCAC[G/A]TTGGGTTGAAAAGTTGGAAGATTTTGCATCTTATTGAAAA |
A |
A |
C___3057305_10 |
rs731617 |
|
solute
carrier family 35, member E1|hypothetical protein FLJ14251 |
SLC35E1|FLJ14251 |
Intron |
19 |
16526857 |
0.35 |
0.22 |
0.16 |
0.1 |
hCV3057305 |
GGGGCTACGCCAAGATCATAAACCAGTCAGTGGCAAAGCT[T/C]TGACATACAACCCCAGCCTTGAGCGCCCGGGAGGCCCTTC |
T |
T |
C__11699366_10 |
|
|
cofactor
required for Sp1 transcriptional activation, subunit 7, 70kDa |
CRSP7 |
|
19 |
16604209 |
0.45 |
0.22 |
0.42 |
0.36 |
hCV11699366 |
CAATTTTTTAATCCCATCTTCAAGTAGGGATGGGGATACA[G/C]AAAGGTTCCAGTTCTGAACGCAAGCCCCGGAACCTGGTTG |
G |
C |
C__15967838_10 |
rs2279448 |
|
hypothetical
protein MGC2747 |
MGC2747 |
UTR
3 |
19 |
16618546 |
|
|
0.06 |
0.06 |
hCV15967838 |
TAACAATTTAGTGTCTATACAGGAAGGCTGGTGTCTCTGT[C/T]ACAGGTGGCCCGTTCCTTAAAGCCTTTAGGGTTAATCGCA |
C |
C |
C__11459109_10 |
rs10402 |
|
hypothetical
protein MGC2747 |
MGC2747 |
UTR
3 |
19 |
16618708 |
|
|
0.47 |
0.23 |
hCV11459109 |
TCAGACTCAGCAAGTAACACTGAATGTCCAAAAATACGGC[C/T]GTGTTAAACTAACAAGCCAATCCTTCTGCTCAGATCTCTG |
C |
C |
C___1975557_10 |
rs901792 |
|
hypothetical
protein MGC3169 |
MGC3169 |
Intron |
19 |
16652443 |
0.16 |
0.24 |
0.5 |
0.28 |
hCV1975557 |
TGATGACAATGAAAAATCATCCCAGTGGAGAACTTTTGGT[T/C]CAGTGGTACTACCAGGCACCCCAGCTAGGAAAGCCATTGC |
C |
C |
C___3066027_10 |
rs773852 |
|
|
|
|
19 |
16733940 |
0.49 |
0.31 |
0.21 |
0.22 |
hCV3066027 |
AGCTCATCACTCTGCCACTTGTGGGGAAACCACTGAACTT[A/G]GACCGAAAGGTGAGGTACCTGGGACCCCCATTCCCCACCT |
A |
A |
C___3065983_10 |
rs773841 |
|
|
|
|
19 |
16740706 |
0.47 |
0.2 |
0.21 |
0.22 |
hCV3065983 |
ATGCAGAGCTTCTAATCCTGGCCCTGCAAACCATCCTTGA[A/G]CTATCTGCTTCTCTTTATTCTCCTGGCCATCAGCCCAGGG |
G |
G |
C__11699314_10 |
rs4808530 |
|
coagulation
factor II (thrombin) receptor-like 3 |
F2RL3 |
|
19 |
16808780 |
|
|
0.22 |
0.12 |
hCV11699314 |
TCTCATCGGACCCCCCACCTTGACTGTGCAGGAACCCTGA[A/G]AGCAGGGCCTCTGAATAAACCCCAGGGCCTGGCTCGGAGA |
T |
T |
C___3065959_10 |
rs2547096 |
|
coagulation
factor II (thrombin) receptor-like 3 |
F2RL3 |
|
19 |
16843830 |
0.35 |
0.21 |
0.41 |
0.5 |
hCV3065959 |
ATTTACGTGACCAGTTTCCTTGTGTTGACATTCAGTGGGG[C/G]CTGGGTTTTTGCTACTACTAAAACCAACGCAGATGAAATC |
C |
C |
C___3065953_1_ |
rs2258772 |
|
coagulation
factor II (thrombin) receptor-like 3 |
F2RL3 |
|
19 |
16851795 |
|
|
0.42 |
0.5 |
hCV3065953 |
ACGGGTCAGCATCGGAATCGCCCAGCCTGGAGTCAAAGGC[A/G]TCAGGAGCCTCCAGGTTCCACAGGAAACTTCTAGAAACAC |
C |
C |
C___3065948_10 |
rs773907 |
|
alpha-2
macroglobulin family protein VIP|coagulation factor II (thrombin)
receptor-like 3 |
VIP|F2RL3 |
|
19 |
16859188 |
0.49 |
0.2 |
0.41 |
0.26 |
hCV3065948 |
TGGGAAGCTGTGCAGGGGAGGCTGGGCACACCGGCAGTCC[A/G]GTGATGCTGGGGCAGGGTGGTTTGAAGATGATGCATCAAA |
C |
C |
C___7493801_10 |
|
|
alpha-2
macroglobulin family protein VIP|coagulation factor II (thrombin)
receptor-like 3 |
VIP|F2RL3 |
Mis-sense
Mutation |
19 |
16861632 |
0.22 |
0.39 |
0.28 |
0.2 |
hCV7493801 |
ATCCGCGGGGGCAGCGCCAGGGCCAGCAGGAGGTCAGCAG[C/T]CGCGAGGTTCATCAGCAGCATGGTGGAGGGCAGCCGAGGT |
A |
A |
C___3065943_10 |
|
|
alpha-2
macroglobulin family protein VIP|coagulation factor II (thrombin)
receptor-like 3 |
VIP|F2RL3 |
UTR
3 |
19 |
16864405 |
0.21 |
0.1 |
0.06 |
0.06 |
hCV3065943 |
TCCTCCACAGCCACTGGCATGGCCCCTTGTGGTCTGTCCC[A/G]TGCAAGGCTTACAACCGGCTGCCAACATCCTGGCAGAAGG |
T |
T |
C___3065917_10 |
|
|
alpha-2
macroglobulin family protein VIP |
VIP |
Intron |
19 |
16891593 |
0.3 |
0.24 |
0.42 |
0.35 |
hCV3065917 |
TTGGGATCTGTTCTAGATGGGTTCCCTTATACTCAACGCA[T/C]ATTCATTCATTTATTCATTGAGTGAGCTAGGCTCTGGTCT |
G |
G |
C___7493825_10 |
rs773921 |
|
alpha-2
macroglobulin family protein VIP |
VIP |
Intron |
19 |
16891668 |
0.21 |
0.49 |
0.23 |
0.13 |
hCV7493825 |
GCAGTGCCGTCCTGTTAGCACCTCCCCTAACTACTTACCA[G/T]AAGGCTCCAAGATCCTGCCAGGGAGCCTGAAAACTTGGGA |
A |
A |
C__11699141_10 |
|
|
alpha-2
macroglobulin family protein VIP |
VIP |
Intron |
19 |
16893315 |
0.3 |
0.3 |
0.41 |
0.36 |
hCV11699141 |
TCAGAGGCCAGACCAGCACCTTGAGGCTGGGGTGTGCTGT[C/G]TGCAGGAGCAGCCTGGGATCTTGTTTCTGTGGTAACTGCA |
C |
C |
C___1655890_10 |
|
|
alpha-2
macroglobulin family protein VIP |
VIP |
Intron |
19 |
16915563 |
0.37 |
0.24 |
0.1 |
0.09 |
hCV1655890 |
GGTGGAAAGCCTCTCATGGTATCTGGCCTGTCTACTAAAG[A/T]CCCACGTGCTGTTGTCACACAGGCATTTATAACAGTCAAC |
A |
A |
C__11699125_1_ |
rs1457090 |
IMS-JST042699 |
alpha-2
macroglobulin family protein VIP |
VIP |
Intron |
19 |
16929621 |
0.2 |
0.41 |
0.1 |
0.07 |
hCV11699125 |
TACATTAAGATTTCTTTTCTGCGCTGACTTTGCCGGTTGA[C/G]TGAAAGACACTCATGCGGGTCCAGAGAGCCTCCGGTGAGA |
G |
G |
C___1655843_10 |
|
|
alpha-2
macroglobulin family protein VIP |
VIP |
Intron |
19 |
16963939 |
0.15 |
0.34 |
0.17 |
0.02 |
hCV1655843 |
GCCTTAGTGTCCCATCATCAGGGGAGGCAAGAACAGGAGG[G/T]ACTGGAGAGGATGTCCCAGCCCTTGGCTTTGGGAACTGGC |
A |
A |
C___1655839_10 |
|
|
alpha-2
macroglobulin family protein VIP |
VIP |
Intron |
19 |
16969283 |
0.21 |
0.5 |
0.17 |
0.02 |
hCV1655839 |
GATCCAGTGAGGGACCCTCTGCATGGTCCCGTGGCATAGA[C/T]TGGGTATGCCACCAAGTGACCCCTGGCCCTCCAAGCAGCT |
G |
G |
C___1655830_10 |
|
|
alpha-2
macroglobulin family protein VIP |
VIP |
Intron |
19 |
16974529 |
0.3 |
0.45 |
0.36 |
0.22 |
hCV1655830 |
CCAGAAGCAAATGGAGAAATCAGCTCTCTGTTGCAGTCAC[C/G]CTGGGGATGCCCCTTGTTGGCTCCCAGGGCCACCTCTATC |
C |
C |
C___1655816_10 |
|
|
alpha-2
macroglobulin family protein VIP |
VIP |
Intron |
19 |
16987589 |
0.3 |
0.11 |
0.37 |
0.45 |
hCV1655816 |
AGCCTCCCTGTCCCTCCAGCATACGGTCCTCAGCACCTCC[G/A]GTATCTCCCTCCTGCCCATCCTTGCCCTGCTCTTGGGTGG |
T |
T |
C___1655786_10 |
|
|
|
|
|
19 |
17013637 |
0.29 |
0.41 |
0.48 |
0.43 |
hCV1655786 |
AGCATTTGTACCAGCCTCCCGGAGTTGCAGTGAGAGGTAC[C/T]GGCAGGTTTCAGGGACAGGAGGCTGTTAGGACTGCCACCC |
G |
G |
C___1655762_10 |
|
|
|
|
|
19 |
17020962 |
0.48 |
0.28 |
0.47 |
0.49 |
hCV1655762 |
CCGCACCTCGACTGGAGGGGACATATTTCAGTTCCAGTCT[C/T]GGTAGTTGTCACTGGGAGATGCTCAGGCTCTTGCCATAAA |
A |
G |
C___1655750_1_ |
rs2278997 |
|
|
|
|
19 |
17027981 |
0.33 |
0.23 |
0.46 |
0.41 |
hCV1655750 |
TTCTCAGTAAGGGGCCTGGGCCGCCTTGCCATCCACTTGG[C/T]TCTCTTGGGAAGAGCTCACCACACCCTCGGAAACTTCCTG |
A |
A |
C___1655744_1_ |
rs2305756 |
IMS-JST063156 |
|
|
|
19 |
17030936 |
0.49 |
0.32 |
0.48 |
0.49 |
hCV1655744 |
CACCAAATTGGTGGGTATTCTCAGCTTGTCCTTGACTACC[C/T]AGCTGCTGCTGTCTCTCCACCTGCCAGGTGCCAGGGGAAG |
A |
G |
C___1655721_10 |
|
|
myosin
IXB |
MYO9B |
|
19 |
17043017 |
0.27 |
0.07 |
0.44 |
0.33 |
hCV1655721 |
AGTCCCCAACAGAAGAATCAACTGGAACAAAGATATGGTC[G/A]AAGTCACAATCTCACTTGGCTGAACTCTCAAGCTGTGTGA |
T |
T |
C___1655713_10 |
|
|
myosin
IXB |
MYO9B |
|
19 |
17049324 |
0.27 |
0.22 |
0.49 |
0.36 |
hCV1655713 |
GCCATTCTCTAGCGGCAGGGAAGAGGCGATTGCAGGGCTG[C/T]GGGATCAGAAGATCCCGGTCCTGTTCTGTAGGCCAGTGCA |
G |
G |
C___1655018_10 |
rs1060367 |
|
myosin
IXB |
MYO9B |
Intron |
19 |
17076202 |
0.35 |
0.4 |
0.44 |
0.44 |
hCV1655018 |
TGTAGCCCTGTGGCCACAAGACTCACCCACAGTGGCACAT[T/C]GAGGGCTCCTGTGGGGTTTGGCTGATCAGGGCAATGAACA |
A |
A |
C___1655005_10 |
|
|
myosin
IXB |
MYO9B |
Intron |
19 |
17085672 |
0.31 |
0.29 |
0.46 |
0.43 |
hCV1655005 |
ACTGTGAGGTCTAAAACTGACCCTATATGATGGCTTATTC[C/T]GCTTTCTCGTCGCCTCTGGGGTTTGCCCTGCCCCGTCTCC |
G |
A |
C____120783_10 |
|
|
myosin
IXB |
MYO9B |
Intron |
19 |
17118802 |
|
|
0.24 |
0.38 |
hCV120783 |
CCACACCACTGCCTACTGGAGCCTGGGCACTGGGAAAAAG[A/G]AATGAAGCTAGAGGCGGAAGGTTCAGGAGAACAATATGCC |
C |
C |
C__11698854_10 |
|
|
myosin
IXB |
MYO9B |
Intron |
19 |
17140752 |
0.28 |
0.2 |
0.38 |
0.31 |
hCV11698854 |
ATGTGTCACGTGATTTCAGTGACTACAACTGGGTGACCCA[G/T]AATGAGGTGCCTTATTGACCTGTCTGCCTTCACAGCGCCC |
A |
A |
C___1654924_1_ |
rs2279004 |
IMS-JST026524 |
myosin
IXB |
MYO9B |
Intron |
19 |
17157679 |
0.09 |
0.03 |
0.4 |
0.39 |
hCV1654924 |
AAAGAGAAAGCATTTGGGTTGAATCAGGGACCCTGACAGC[C/T]GCTGTTCTGTGGGAGCAGACCTGGGACACTCTAGCATCAG |
A |
A |
C___7493866_1_ |
|
|
myosin
IXB |
MYO9B |
Intron |
19 |
17163247 |
0.23 |
0.46 |
0.24 |
0.3 |
hCV7493866 |
GTCCCTTTCCTACCTGTGAGGCAGCAATAAACAGGTGACG[C/T]GGAGGGAGTCGCTGAGCCCTGCTGAAGAACAGCAGGTGGG |
G |
G |
C___1654877_1_ |
rs2305765 |
|
myosin
IXB |
MYO9B |
Silent
Mutation |
19 |
17173992 |
0.27 |
0.42 |
0.25 |
0.29 |
hCV1654877 |
TGGTGTCCTTCTGGCCACGCTCAGTGGCCAGGTTGCTGAC[A/G]ACGATCTGGTAGTTCTCCATCAGATCCTTGTAGCCCACGT |
C |
C |
C____795108_10 |
rs414528 |
|
hypothetical
protein FLJ22709|myosin IXB|uncharacterized hematopoietic stem/progenitor
cells protein MDS032 |
FLJ22709|MYO9B|MDS032 |
Mis-sense
Mutation |
19 |
17191060 |
|
|
0.08 |
0.15 |
hCV795108 |
GTTCTGATGTCGCTGCAGGACGAGGTCTAGCTCAGCTGCC[A/G]ACTGCTTCTCACTCACTGGCTGGGACCCTGCCACTCCACT |
T |
T |
C___2830576_10 |
rs891202 |
|
hypothetical
protein FLJ22709|nuclear receptor subfamily 2, group F, member
6|uncharacterized hematopoietic stem/progenitor cells protein MDS032 |
FLJ22709|NR2F6|MDS032 |
Intron |
19 |
17199033 |
|
|
0.48 |
0.44 |
hCV2830576 |
AAAGCCCCAGCCTCAGTGCCCCTCTCCTGATCCCAGGCAT[G/A]AAGAATCACATGGGGGACACTCACAGCTCATAGTCGGGCA |
C |
C |
C___2830565_10 |
|
|
AIE-75
binding protein protein|nuclear receptor subfamily 2, group F, member 6 |
MCC2|NR2F6 |
|
19 |
17219701 |
0.24 |
0.27 |
0.34 |
0.24 |
hCV2830565 |
GTCTTTCTTCCCCCATCTCCCACCCAGCTCTCAGCTGCCT[C/T]GCAAGACTTGTCTCCCCCAAACCTAGTTCTTTGCTCCCTC |
A |
A |
C___2939575_10 |
|
|
AIE-75
binding protein protein |
MCC2 |
Intron |
19 |
17228585 |
0.39 |
0.11 |
0.11 |
0.2 |
hCV2939575 |
AAGGTGCCTATGTCAACACTGGCAGGCATAGGTGGGTTAA[G/C]TTCATGCCAATCCTGGTAGGGTCCATCACCTTCCATCTCA |
G |
G |
C__15965029_10 |
rs2278256 |
IMS-JST025487 |
AIE-75
binding protein protein|HSPC142 protein |
MCC2|HSPC142 |
|
19 |
17239159 |
0.18 |
0.24 |
0.28 |
0.23 |
hCV15965029 |
CACTCCAAACCCCACCCCCAACCCAGTTTCAGCCTATCAG[T/C]TTCCAAGTTCTTTCTAGCCTCAACCAGTTTCTGTCTCTGC |
C |
C |
C__11695665_1_ |
rs3745185 |
|
AIE-75
binding protein protein|HSPC142 protein|hypothetical protein FLJ39369 |
MCC2|HSPC142|FLJ39369 |
Intron |
19 |
17245267 |
0.48 |
0.25 |
0.17 |
0.19 |
hCV11695665 |
GAGAGGGCAGGAGCTCCGATGTCAGCCAGACTGGGTTTGT[G/A]GCTGAGCTCCGCCACACCCCTGCAGTATGACCTATACCTC |
A |
A |
C___2939551_10 |
rs1864115 |
|
HSPC142
protein|hypothetical protein FLJ39369|abhydrolase domain containing
8|mitochondrial ribosomal protein L34|hypothetical protein FLJ11743 |
HSPC142|FLJ39369|ABHD8|MRPL34|FLJ11743 |
Intron |
19 |
17254327 |
0.2 |
0.19 |
0.3 |
0.27 |
hCV2939551 |
GGCAGAGGTTTGGGTCCTGGCCTGAGGTCATAGCATCTAG[G/C]TTCCAAGGGCAGTGTACCAGGGTGGACGGCGGAGATCCGG |
C |
C |
C___2939520_10 |
|
|
hypothetical
protein FLJ39369|mitochondrial ribosomal protein L34|abhydrolase domain
containing 8|hypothetical protein FLJ11743 |
FLJ39369|MRPL34|ABHD8|FLJ11743 |
Intron |
19 |
17266010 |
0.08 |
0.25 |
0.1 |
0.09 |
hCV2939520 |
GCAGCCACGCCCCCTCGGGAAGAAAGCACGCCCACCAAGC[A/G]CTACCACGCCCCCCGCAGAGGCCACGCCCCTCCCGGGCAG |
A |
A |
C___2939509_10 |
|
|
hypothetical
protein MGC2594|mitochondrial ribosomal protein L34|abhydrolase domain
containing 8|hypothetical protein FLJ11743 |
MGC2594|MRPL34|ABHD8|FLJ11743 |
Silent
Mutation |
19 |
17273399 |
0.32 |
0.16 |
0.16 |
0.1 |
hCV2939509 |
GCCCCACGGCGTTGGGGGGCGTGCCCAGCAGGCAACAGAA[G/A]ATACCGTCGGTCACCCCGGTCAGCATGGTGTGTCCTGTGA |
A |
A |
C___2939494_1_ |
rs2288464 |
|
hypothetical
protein MGC2594|mitochondrial ribosomal protein L34|abhydrolase domain
containing 8|hypothetical protein FLJ11743 |
MGC2594|MRPL34|ABHD8|FLJ11743 |
UTR
3 |
19 |
17278252 |
|
|
0.47 |
0.47 |
hCV2939494 |
CCCTCATGGAAGCATCGCCCTCGCCTCGGACCTTGCCTGG[C/A]GCTATTTTTGCAGGGAGCTGGGGAGCAGGAACGCCTCGGA |
A |
C |
C___2939476_10 |
rs971693 |
|
hypothetical
protein MGC2594|mitochondrial ribosomal protein L34|abhydrolase domain
containing 8|hypothetical protein FLJ11743 |
MGC2594|MRPL34|ABHD8|FLJ11743 |
Intron |
19 |
17283649 |
0.28 |
0.41 |
0.12 |
0.09 |
hCV2939476 |
AGGCTACCTGCAGTGGGACTGGCACACAGGTGTCCAGTGC[C/G]TGTCTGCTGAGGCACCTGTGAGGGCCCAGCCGTGGCTGGC |
C |
C |
C___2939462_10 |
|
|
hypothetical
protein MGC2594|GTP binding protein 3 (mitochondrial)|mitochondrial ribosomal
protein L34|mitochondrial GTP binding protein |
MGC2594|GTPBP3|MRPL34|GTPBG3 |
|
19 |
17299642 |
0.25 |
0.13 |
0.28 |
0.19 |
hCV2939462 |
CGCACAGCGCCGCCAGGGGGAAGGCGGACGAGAAGAGCAC[A/G]ACGTAGCCGAACTGCACGAACATCTCCTGGTAGTCCTGGA |
G |
G |
C__11695580_10 |
|
|
plasmalemma
vesicle associated protein|GTP binding protein 3
(mitochondrial)|mitochondrial GTP binding protein |
PLVAP|GTPBP3|GTPBG3 |
Intron |
19 |
17317223 |
0.27 |
0.48 |
0.11 |
0.08 |
hCV11695580 |
ATTACATATCCCACTGATTCAGGAACTTCGCGGTGTGTTC[G/A]AGGAATAGTGAGATGGTCAGGTTTTTTTGTTGGTTTGTTT |
G |
G |
C___2931354_10 |
|
|
plasmalemma
vesicle associated protein |
PLVAP |
Intron |
19 |
17330382 |
0.48 |
0.16 |
0.26 |
0.39 |
hCV2931354 |
CCGTCAGTGGTGTAGCAGGACCCCAGAGAGAGCACAGGCT[A/G]TTCTTGGGGCGGTGGCCTGAGTCACCATCCCTGTGACGCA |
A |
A |
C___2931325_10 |
|
|
plasmalemma
vesicle associated protein |
PLVAP |
|
19 |
17351013 |
0.17 |
0.37 |
0.31 |
0.45 |
hCV2931325 |
GGAGGAACAGGAGCAGGGAGCCGGAAAGGAGGCTGGACTC[C/T]GGACAGGTGACAATCATGCAATTGCTGTCCTCTGTAGGGC |
T |
T |
C__11454228_10 |
rs9576 |
|
bone
marrow stromal cell antigen 2|hypothetical protein BC011840 |
BST2|LOC93343 |
UTR
3 |
19 |
17374981 |
0.01 |
0.09 |
0.47 |
0.32 |
hCV11454228 |
|
#N/A |
#N/A |
C__11695535_10 |
|
|
bone
marrow stromal cell antigen 2|hypothetical protein BC011840 |
BST2|LOC93343 |
|
19 |
17386314 |
0.18 |
0.36 |
0.32 |
0.45 |
hCV11695535 |
AGAGTATCCTTAACCCACTGCAGATATTTCCCTGGGTCCA[T/C]GGTCAATCAACACCACCTTTCAGTCTCCAGCCTCTTAACC |
C |
C |
C___2931296_1_ |
rs2303680 |
|
hypothetical
protein BC011840 |
LOC93343 |
Intron |
19 |
17392450 |
|
|
0.38 |
0.48 |
hCV2931296 |
GGCTTCTCCCCCGTCTGCGACCCCATGGATTCCAGTAAGG[A/G]CTGCTTCGGAGGCGAGAGTTGTCCGGGTCCCTTGCAGGGA |
A |
G |
C___7493941_10 |
rs890840 |
|
hypothetical
protein BC011840 |
LOC93343 |
|
19 |
17402182 |
|
|
0.49 |
0.41 |
hCV7493941 |
CCTAACATTTCTGGGCTGAGCTTACATCATCTTGGGCTAC[C/T]GAGGAAGGAGCTGAGGGCCCTGGGAACCACAGCACTAAGT |
C |
T |
C___2931258_10 |
|
|
hypothetical
protein BC014127 |
LOC115861 |
|
19 |
17423969 |
0.28 |
0.26 |
0.14 |
0.16 |
hCV2931258 |
TTCATCAGGCCTCAGCCCAACACTCATTCTTTCATCATCA[T/C]CAGTGTTAGGGTGAATTTTCCATGTTTTCCAGGTAAGGAA |
C |
C |
C___2931256_10 |
|
|
hypothetical
protein BC014127 |
LOC115861 |
|
19 |
17424679 |
0.43 |
0.09 |
0.02 |
0.14 |
hCV2931256 |
TGTTGGCTGGAATAATAGTAACAATGTTGACAGGTTACAT[T/C]GCCTGTGATTTGTTGGAAAAGGGCAACCTGGTATGATTTA |
T |
T |
C___7493943_10 |
rs890839 |
|
hypothetical
protein BC014127|solute carrier family 27 (fatty acid transporter), member 1 |
LOC115861|SLC27A1 |
|
19 |
17432766 |
0.12 |
0.15 |
0.32 |
0.43 |
hCV7493943 |
TCTGCTGACTGGCTCCTCTCCCAGAAATAGAAATCTTTAG[G/A]AAACCAGCTTAGGACTTCACTAATCTGCCTAAACCTTGAC |
G |
G |
C__11516485_10 |
|
|
solute
carrier family 27 (fatty acid transporter), member 1 |
SLC27A1 |
Intron |
19 |
17455066 |
0.1 |
0.32 |
0.35 |
0.43 |
hCV11516485 |
GGAGAGTGAAGGTGACAGGGAGGGCTCCCAGGGTAGAACA[G/A]AGAGCTCCCTGACACCAGCCAGTGCCCCACTGACCAAGTG |
A |
A |
C__15871825_10 |
rs2240811 |
|
UDP-GlcNAc:betaGal
beta-1,3-N-acetylglucosaminyltransferase 3|FCH domain only 1|KIAA0290 protein |
B3GNT3|FCHO1|KIAA0290 |
Intron |
19 |
17768444 |
0.24 |
0.37 |
0.31 |
0.19 |
hCV15871825 |
|
#N/A |
#N/A |
C___3171423_10 |
rs36686 |
|
UDP-GlcNAc:betaGal
beta-1,3-N-acetylglucosaminyltransferase 3|insulin-like 3 (Leydig cell) |
B3GNT3|INSL3 |
Mis-sense
Mutation |
19 |
17783795 |
0.27 |
0.09 |
0.48 |
0.4 |
hCV3171423 |
AGCGGCATCCGCACGTCTGGCGTGCGGGCTCCATCGCAAC[A/G]CCTGTCCTCCTTTGACCCCTGCTTCTACCGAGACCTGCTG |
#N/A |
#N/A |
C___2600759_10 |
|
|
Janus
kinase 3 (a protein tyrosine kinase, leukocyte)|UDP-GlcNAc:betaGal
beta-1,3-N-acetylglucosaminyltransferase 3|insulin-like 3 (Leydig cell) |
JAK3|B3GNT3|INSL3 |
|
19 |
17788285 |
0.06 |
0.1 |
0.21 |
0.32 |
hCV2600759 |
GTCCATGGCTGCTGGGGGACAAGCCCACACAGGGACTGAC[G/T]GAGGCTTGTCCCTTTTTCTAGAGAAAATGCAGGAAGCTGC |
G |
G |
C___2600761_10 |
|
|
Janus
kinase 3 (a protein tyrosine kinase, leukocyte)|UDP-GlcNAc:betaGal
beta-1,3-N-acetylglucosaminyltransferase 3|insulin-like 3 (Leydig cell) |
JAK3|B3GNT3|INSL3 |
Intron |
19 |
17789987 |
|
|
0.44 |
0.34 |
hCV2600761 |
GACACACACACACCCCTACGAGGACACACCCTTGCAGACC[A/G]CCTCCCCTGGATCCCTAACACCGCAAGTGGAGTGGCACAC |
A |
A |
C___7495501_10 |
|
|
ribosomal
protein L18a |
RPL18A |
|
19 |
17831627 |
0.23 |
0.05 |
0.23 |
0.3 |
hCV7495501 |
TTGAGTAGCAGGTGGATCCATAGCCAATGAAGACGCGGGT[C/G]GCTTTGAGTGCGGGGCAGAGAAGCCAATGGACGTGCGGCA |
G |
G |
C_____16411_10 |
rs740697 |
|
ribosomal
protein L18a|solute carrier family 5 (sodium iodidesymporter), member 5 |
RPL18A|SLC5A5 |
|
19 |
17839044 |
|
|
0.26 |
0.23 |
hCV16411 |
TGTGAGTGGGGCCAATAAGGCAGAGGCTGGCCAGCGAGAA[A/C]CTGGATGTCCGCTGGGGTCTGGAGCAGGACAGGTCCTACC |
A |
A |
C___2591674_10 |
|
|
hypothetical
protein BC013949 |
LOC115098 |
|
19 |
17904430 |
0.27 |
0.38 |
0.21 |
0.14 |
hCV2591674 |
CTAGGAAAGCACTTTTAAAGCGTTAAGGGATTGCGAAGAG[C/T]TACGGAGAGGCTTCCTCAGGGCTATACTGGGTCCACCTCC |
T |
T |
C___2591679_10 |
|
|
hypothetical
protein BC013949|potassium intermediate/small conductance calcium-activated
channel, subfamily N, member 1 |
LOC115098|KCNN1 |
|
19 |
17915851 |
0.21 |
0.14 |
0.08 |
0.05 |
hCV2591679 |
GTGGGTGGGGAGAGGCGGGCGAAGAATGGGGAGAAGGAAC[A/G]GCTTTGGGGACCTGCTGTGAACCGCACTGGGATCATAGCT |
G |
G |
C___3057421_10 |
|
|
potassium
intermediate/small conductance calcium-activated channel, subfamily N, member
1 |
KCNN1 |
Intron |
19 |
17937221 |
0.21 |
0.17 |
0.12 |
0.09 |
hCV3057421 |
ACTCCTGCAAGGGCTGGGTTGAGCTGTCAGGGGCCAGGAG[A/C]ATTGAATGTGGTTCAGGGATGTGCCCAATCCTGAGGGAGC |
A |
A |
C___1656329_10 |
rs4808727 |
|
potassium
intermediate/small conductance calcium-activated channel, subfamily N, member
1 |
KCNN1 |
Intron |
19 |
17944619 |
|
|
0.12 |
0.08 |
hCV1656329 |
CAGATGAAAACCACCTTCTAAGCATACCATTAGCCACCCT[A/C]TCCTCCCAGGCAAGCCCGTTGGTAGATTTCATCTTCCAGC |
A |
A |
C___3057425_10 |
|
|
arrestin
domain containing 2|hypothetical protein CLONE24945 |
ARRDC2|CLONE24945 |
|
19 |
17986199 |
0.17 |
0.07 |
0.03 |
0.1 |
hCV3057425 |
GGCGGGGGCTGAACAGTGGAGGACAAGCAGAGAACTCTAT[T/C]CTCAGAGAGTGGGGAGCAGGGGGCTGGGGCTGGGAGGAGC |
T |
T |
C___1656365_10 |
|
|
|
|
|
19 |
18003075 |
0.13 |
0.19 |
0.08 |
0.09 |
hCV1656365 |
TGAAGACTCTGTGGATCTAATCACAAAGCTACCTTGTGTC[A/G]CAGCAAAGATCTACCGAAATCTCTATGGAGAAGGCAGTGG |
A |
A |
C____795421_10 |
rs428626 |
|
|
|
|
19 |
18015802 |
0.01 |
0.31 |
0.28 |
0.28 |
hCV795421 |
CGCAAAGAGAAATACCTTCCTGCTCCTGGCCAGAGTGCCG[C/G]AGGTAAGCACTACCCTCTCAGACCTGGAGGACCTGCAGGA |
C |
C |
C___3057455_10 |
|
|
interleukin
12 receptor, beta 1 |
IL12RB1 |
|
19 |
18021464 |
0.03 |
0.14 |
0.13 |
0.11 |
hCV3057455 |
TCCAGTATGTGAGGGTGGAACCTTCTGGGCTGACCATTTA[T/C]GGGACAGGCCCCTAGAATGGGAGGCCCAGGACAGCCGGAG |
C |
C |
C____795434_1_ |
rs404733 |
|
interleukin
12 receptor, beta 1 |
IL12RB1 |
|
19 |
18030997 |
0.48 |
0.4 |
0.37 |
0.38 |
hCV795434 |
GGTGGGGGGTGGGATGGGAGGACCGTCATTTTTCCCACAA[A/T]GTTTACAGCCCCCTTCCCTATATGCCTGGATCCTCCAAGC |
T |
T |
C___3057478_10 |
rs383483 |
|
interleukin
12 receptor, beta 1 |
IL12RB1 |
Intron |
19 |
18032886 |
0.47 |
0.43 |
0.39 |
0.35 |
hCV3057478 |
GGAGAGAATAAAATGAGCTAATGCGTAACCCTTGTCCAGC[A/G]TGTGCACCCAATAAAAAGACTTGGAATTAGAAAAGGCATC |
G |
G |
C__16191586_10 |
rs2305739 |
IMS-JST063130 |
interleukin
12 receptor, beta 1 |
IL12RB1 |
Intron |
19 |
18041194 |
0.22 |
0.01 |
0.07 |
0.19 |
hCV16191586 |
GCCAGCAAGAGGTTCCAGACCCATATGGGTGAGAGGCTCC[A/G]AACCTCACCCTGTCCCTACCTCTGTATGACATTGAGTAAG |
#N/A |
#N/A |
C____795442_1_ |
rs375947 |
|
interleukin
12 receptor, beta 1 |
IL12RB1 |
Mis-sense
Mutation |
19 |
18041451 |
0.34 |
0.21 |
0.39 |
0.32 |
hCV795442 |
CCCGTCCTGGCCCACAGGCTGCCATTCAATGCAATACGTC[A/G]TGCTCTGAGCCCGGGCTGGCCAATACATGGTGGTCCCGTT |
G |
G |
C__16191619_10 |
rs2305742 |
|
interleukin
12 receptor, beta 1 |
IL12RB1 |
Intron |
19 |
18052441 |
0.23 |
0.01 |
0.01 |
0.14 |
hCV16191619 |
GCAGCATTATGGCTAGCAGAGAGAAACCAGAAGCAATCTA[A/C]GTGCCCACGAATAGGGGATTGGTAAGGGGACCATGAAAGA |
#N/A |
#N/A |
C____795468_1_ |
rs436857 |
IMS-JST063137 |
interleukin
12 receptor, beta 1 |
IL12RB1 |
UTR
5 |
19 |
18058635 |
0.22 |
0.12 |
0.08 |
0.16 |
hCV795468 |
GAAGAGGAGGGGGACCACCCAGGTCACCAGCGGCTCCATC[A/G]GATCCACGTAGAGCCCCACAGCCCCAGGGGAGCCTCTCTG |
A |
A |
C___3057497_10 |
|
|
interleukin
12 receptor, beta 1 |
IL12RB1 |
|
19 |
18062757 |
0.39 |
0.44 |
0.14 |
0.28 |
hCV3057497 |
GGACACTTGAGCTAGAATGTATAGAATTACAGGGCATCTC[T/C]GGCAGAGGCCACAGCAGAGGCAAAAGTCCAGAGGAGGTGC |
C |
C |
C___2677067_10 |
rs887945 |
|
interferon,
gamma-inducible protein 30|phosphoinositide-3-kinase, regulatory subunit,
polypeptide 2 (p85 beta) |
IFI30|PIK3R2 |
|
19 |
18143895 |
0.29 |
0.23 |
0.17 |
0.07 |
hCV2677067 |
CTGCATAGGTGCTCACAGGAGAAAGGTTGCCATCTTTATG[G/A]TCCCAGCTATGCTGAGCTGGGGGTGGAAGAGAATATCCCG |
G |
G |
C__11972083_1_ |
rs7125 |
|
interferon,
gamma-inducible protein 30|phosphoinositide-3-kinase, regulatory subunit,
polypeptide 2 (p85 beta) |
IFI30|PIK3R2 |
Silent
Mutation |
19 |
18149069 |
0.38 |
0.48 |
0.23 |
0.14 |
hCV11972083 |
TGCACGCCAACGCCCAGCGGACAGATGCTCTCCAGCCACC[A/G]CACGAGTATGTGCCCTGGGTCACCGTCAATGGGGTAAGAA |
G |
G |
C__15969997_10 |
rs2280342 |
|
RAB3A,
member RAS oncogene family|hypothetical protein MGC12972|phosphodiesterase
4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila) |
RAB3A|MGC12972|PDE4C |
Silent
MutationIntron |
19 |
18174515 |
|
|
0.15 |
0.21 |
hCV15969997 |
GAATCTTGAACATGTAGTCGAAGTTCTGATCCGAGGACTC[C/T]TTCTGCCCATAGCGCGAGTCTGTGGCGGATGCCATCTGGG |
#N/A |
#N/A |
C___1724666_1_ |
rs2280344 |
IMS-JST028496 |
RAB3A,
member RAS oncogene family|hypothetical protein MGC12972|phosphodiesterase
4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila) |
RAB3A|MGC12972|PDE4C |
Intron |
19 |
18176283 |
0.27 |
0.48 |
0.23 |
0.35 |
hCV1724666 |
TCCCTTACCCGCCCGCACCCACCCCAGGTAGGGGACTCTT[C/G]AGGCCACCGTCTAGTCCAAGGTGCTGTGACCCCTGTTAAA |
G |
G |
C__15862871_10 |
rs2074973 |
|
phosphodiesterase
4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila) |
PDE4C |
Intron |
19 |
18194273 |
0.39 |
0.47 |
0.18 |
0.2 |
hCV15862871 |
|
#N/A |
#N/A |
C___1011759_10 |
rs169237 |
|
phosphodiesterase
4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila) |
PDE4C |
|
19 |
18208870 |
0.41 |
0.3 |
0.41 |
0.43 |
hCV1011759 |
GCTCACAGGGGCCAAGCCAGAATCCACCAACTCCCAGAAC[C/T]ACTGGAAGAAACCAGAAAGACATGAGCAAGTTCTTGGTCA |
T |
C |
C___7495873_10 |
rs888666 |
|
|
|
|
19 |
18218416 |
0.31 |
0.13 |
0.11 |
0.14 |
hCV7495873 |
GAGACCCGAGGCTCACCCTGAGCACCCTCATTCCACACAA[A/T]GTTAGCCCAGTTTTTTAACACACAAAAACGCTGAGTTCTG |
A |
A |
C___7493628_20 |
rs1035363 |
|
|
|
|
19 |
18232776 |
|
|
0.24 |
0.27 |
hCV7493628 |
TAGGTTGATGAGCTGGTCTTAAGGGCACTGCAGTGGTGGC[C/T]TGAGATAGCTGGGCAAGGCTTGGGGACACCTCACTGGGCA |
T |
T |
C___2036170_10 |
rs1075403 |
|
jun
D proto-oncogene |
JUND |
|
19 |
18245950 |
0.33 |
0.3 |
0.14 |
0.24 |
hCV2036170 |
TTTAAAAAAATAATAATAAAGAGACATAACAGGCTCTCCA[G/T]GATGTCCCCCATCACAGGTGAACAAATCCACCATCAAGGC |
T |
T |
C___2036182_10 |
|
|
jun
D proto-oncogene |
JUND |
|
19 |
18250135 |
|
|
0.15 |
0.25 |
hCV2036182 |
CTTGTGTGTCAAGACACCCCTGCTCTCCCACCTCAGCCTC[A/G]GTTCCCTTCAGCAGGTTCCTTCAGGCCCTGCTGAAACGTC |
A |
A |
C___2036193_10 |
|
|
jun
D proto-oncogene |
JUND |
|
19 |
18259139 |
0.41 |
0.4 |
0.15 |
0.24 |
hCV2036193 |
ACTAGGGCTTGGTCCGGGACTCTGCATTTTCACCTTTATC[T/C]CAGCAGCAGCTCCACGAGTGGTGAGGGACGTTATCCCACT |
T |
T |
C___2036201_10 |
rs1549143 |
|
|
|
|
19 |
18266351 |
|
|
0.5 |
0.45 |
hCV2036201 |
TGTACATGTCCCTCATCTGTTCTCACAATGCCCACCCCAG[G/T]TGACAACATCCTCCCAAGCCCCCTTCAGGAGATGGTGGGG |
G |
T |
C___2036221_10 |
rs1035364 |
|
LSM4
homolog, U6 small nuclear RNA associated (S. cerevisiae) |
LSM4 |
Intron |
19 |
18289880 |
0.24 |
0.2 |
0.11 |
0.14 |
hCV2036221 |
AGGCCCCAGCACCAAGGGGCCCTGACAAGACAGTGCCTCA[C/T]GGGACACAGGCTTCACCTAGCCCTGTCCTGGTGACTGGAA |
T |
T |
C___2036228_10 |
|
|
LSM4
homolog, U6 small nuclear RNA associated (S. cerevisiae) |
LSM4 |
|
19 |
18300520 |
0.16 |
0.23 |
0.03 |
0.08 |
hCV2036228 |
GAGAAGAGCTGGTTCCTGGGGAGTTAAAGGGAAAGTCCAG[C/T]ACCCCTTAGGCTCTGTCCTCTGGAAGAAGCTTTCTGCAGA |
T |
T |
C___2036235_10 |
|
|
pyroglutamyl-peptidase
I|hypothetical protein FLJ20208 |
PGPEP1|FLJ20208 |
|
19 |
18310238 |
0.33 |
0.08 |
0.44 |
0.47 |
hCV2036235 |
CATAGTGTCTTGGCGAATGATGGCAAAGTCAAAGTGGAAC[A/G]GGCTATCAGTGAACCACACAGTCAGGAGTTCTGGCTCATG |
A |
A |
C___2036245_10 |
|
|
pyroglutamyl-peptidase
I|hypothetical protein FLJ20208 |
PGPEP1|FLJ20208 |
Intron |
19 |
18317963 |
0.07 |
0.26 |
0.42 |
0.4 |
hCV2036245 |
AGCCCTCCCGATGTAAACCTCTGCAGACTTTTTTGCGCCA[C/G]TAGGTGAATTTTGCCTGTTCCAGAAGTTGGCAGGAACAAG |
G |
G |
C___3199226_10 |
|
|
growth
differentiation factor 15|leucine rich repeat containing 25|monocyte and
plasmacytoid activated molecule|prostate differentiation factor |
GDF15|LRRC25|MAPA|PLAB |
|
19 |
18357495 |
0.32 |
0.28 |
0.42 |
0.32 |
hCV3199226 |
ACCCCTCATTTGACCACCTCTCCAGTGAGAGTCTCAGTCC[C/T]TTTTTTCCTGGTGAGGAAACAGGCATGGCAGAGAGGCATG |
T |
T |
C__11971334_1_ |
|
|
growth
differentiation factor 15|leucine rich repeat containing 25|monocyte and
plasmacytoid activated molecule|prostate differentiation factor |
GDF15|LRRC25|MAPA|PLAB |
Silent
Mutation |
19 |
18358024 |
0.28 |
0.21 |
0.43 |
0.32 |
hCV11971334 |
CGCAACCTGCACAGCCATGCCCGGGCAAGAACTCAGGACG[C/G]TGAATGGCTCTCAGATGCTCCTGGTGTTGCTGGTGCTCTC |
G |
G |
C___3199240_10 |
|
|
growth
differentiation factor 15|leucine rich repeat containing 25|monocyte and
plasmacytoid activated molecule|prostate differentiation factor |
GDF15|LRRC25|MAPA|PLAB |
|
19 |
18370526 |
|
|
0.01 |
0.1 |
hCV3199240 |
AATGGTCAAAGGCTTTGAACGGAGACCTTGAAGAAAAAGC[G/A]GGAAACTGCTTTTCAACATGTCCAGAGATGCTCATTCTTG |
A |
A |
C___3199256_10 |
|
|
single
stranded DNA binding protein 4 |
SSBP4 |
|
19 |
18386701 |
0.23 |
0.48 |
0.11 |
0.15 |
hCV3199256 |
GTCAAGGCCACACAGTGAGCCAGGGCACAGCTAGGTTCAA[T/A]CCCAGGCCCAGAGCCTCTATCTGTGAGTTTCCGCCTCCAG |
T |
T |
C___3199259_10 |
|
|
myo-inositol
1-phosphate synthase A1|single stranded DNA binding protein 4 |
ISYNA1|SSBP4 |
Intron |
19 |
18397416 |
|
|
0.18 |
0.19 |
hCV3199259 |
TGCCACAGAAGTGAGCTAGACAGGTGGGCCTGCAGGCCGC[G/C]GGGCCAGGAAAGTGGAGGAAGAGCAGGTGTGGGAGACTGG |
G |
G |
C___3199270_1_ |
rs2303697 |
IMS-JST060456 |
myo-inositol
1-phosphate synthase A1|single stranded DNA binding protein 4|chromosome 19
open reading frame 17|elongation factor RNA polymerase II|hypothetical
protein DKFZp434I1916 |
ISYNA1|SSBP4|C19orf17|ELL|DKFZp434I1916 |
Silent
Mutation |
19 |
18407678 |
0.4 |
0.3 |
0.18 |
0.19 |
hCV3199270 |
TCTTGGACACCTCCTTAGAGCGGAACTGCAATGGCGCCGA[T/C]AGGTTCTCCCCATCGTTGTTGCCCAGGTGGTTGTAACTCA |
C |
C |
C___1393844_10 |
|
|
chromosome
19 open reading frame 17|elongation factor RNA polymerase II|hypothetical
protein DKFZp434I1916 |
C19orf17|ELL|DKFZp434I1916 |
Intron |
19 |
18428901 |
0.26 |
0.48 |
0.1 |
0.14 |
hCV1393844 |
CGCTAGTGGAAGCTTGTGAAGGCAGTGCTGATCCCCATGC[C/T]GGCCCAGAGTGAAAGCAGAGTGCCAAGGGGCTGGCATGAG |
T |
T |
C___8161961_10 |
|
|
chromosome
19 open reading frame 17|elongation factor RNA polymerase II|hypothetical
protein DKFZp434I1916 |
C19orf17|ELL|DKFZp434I1916 |
Intron |
19 |
18473351 |
0.4 |
0.26 |
0.18 |
0.23 |
hCV8161961 |
CTTGGAGTGAGGGGCCACTGGCAGAAGGGAGCAAGACACT[C/G]GTCCACGGCACAGCCAGCTCAGAGCCAGGCGGATGAGACG |
C |
C |
C___8161938_10 |
|
|
chromosome
19 open reading frame 17|elongation factor RNA polymerase II|hypothetical
protein DKFZp434I1916 |
C19orf17|ELL|DKFZp434I1916 |
Intron |
19 |
18479225 |
0.25 |
0.49 |
0.1 |
0.15 |
hCV8161938 |
TTGGCAGAGAACTGCTCAGGAAGTCCTCCTCTGAGTCTTT[T/C]AAGCCACTGGTATCTAACAAAGAATCTAATCTGCACACGG |
T |
T |
C___3020852_10 |
rs271621 |
|
chromosome
19 open reading frame 17|elongation factor RNA polymerase II|hypothetical
protein DKFZp434I1916 |
C19orf17|ELL|DKFZp434I1916 |
Intron |
19 |
18492332 |
0.39 |
0.28 |
0.19 |
0.21 |
hCV3020852 |
AAAAAAAAATGAAATCCTCATTCCATGAAGGGGAAAACTG[C/A]GACACCGGGACAGGGAGGAAATTGCCCAAAGACATGGGAA |
A |
A |
C___2580741_1_ |
rs1468475 |
IMS-JST002023 |
hypothetical
protein MGC2749|ubiquitin A-52 residue ribosomal protein fusion product 1 |
MGC2749|UBA52 |
Intron |
19 |
18540155 |
0.45 |
0.26 |
0.29 |
0.25 |
hCV2580741 |
GGGTGAGGGCAGCCGTTAGGGGTCACATGGACAATAAGTC[T/C]TACATCACAGAGCTTGGCAAGGTGACAAAACCAACTCTTG |
C |
C |
C___2580747_1_ |
rs2302055 |
IMS-JST058317 |
hypothetical
protein MGC2749|ubiquitin A-52 residue ribosomal protein fusion product 1 |
MGC2749|UBA52 |
Intron |
19 |
18545563 |
0.45 |
0.15 |
0.29 |
0.24 |
hCV2580747 |
ATGGCCGCACTCTCTCAGACTACAACATCCAGAAAGGTAC[T/C]GGGGTTGGGGTTGCTGGGCAGGGACCCAAGATCCCCAGGT |
C |
C |
C___2580748_1_ |
rs6554 |
IMS-JST006911 |
hypothetical
protein MGC2749|ubiquitin A-52 residue ribosomal protein fusion product 1 |
MGC2749|UBA52 |
UTR
3 |
19 |
18546964 |
0.42 |
0.06 |
0.28 |
0.26 |
hCV2580748 |
CACCAACAACCTGCGTCCCAAGAAGAAGGTCAAATAAGGT[G/T]GTTCTTTCCTTGAAGGGCAGCCTCCTGCCCAGGCCCCGTG |
G |
G |
C__25751762_10 |
|
|
cytokine
receptor-like factor 1|hypothetical protein FLJ20850 |
CRLF1|FLJ20850 |
Intron |
19 |
18561583 |
0.23 |
0.5 |
0.44 |
0.41 |
hCV25751762 |
CCTCTCATGACGCACCCCTGGTTGGGGGGTGGTCCCAGTA[C/T]CCCATACACAGACCTCACCCCTTCCTGTCCCACCCCAATC |
C |
C |
C___2886401_1_ |
|
|
hypothetical
protein FLJ11078 |
FLJ11078 |
Intron |
19 |
18622276 |
|
|
0.43 |
0.35 |
hCV2886401 |
GTCATCCTCTATCTGAAAAACTTCCAGGACTGAAGTTCGA[A/G]TTGGAAGCACGCGTTCTCCTTGGTGAAGTCCGTCCTGTCC |
G |
G |
C_____44026_10 |
rs3795028 |
|
hypothetical
protein FLJ11078 |
FLJ11078 |
UTR
3 |
19 |
18641917 |
0.22 |
0.13 |
0.01 |
0.07 |
hCV44026 |
ACTTCAGAATCCCATAGTGGCGCTTGCCGCAGGTCTGGTG[G/A]GGTGTCTTTTTTCTCCTCCCTCCTTTCCACCCCTCCGCGC |
A |
A |
C___8931871_10 |
|
|
hypothetical
protein FLJ11078 |
FLJ11078 |
|
19 |
18643377 |
0.46 |
0.12 |
0.28 |
0.24 |
hCV8931871 |
GCGCCGGCCCAGGGCGGGGGGCGCTGCTGTATCTAACCGG[A/G]TCGATTGTGCATAACCGTCTAGGCCGGTTCGTGGAATGTT |
A |
A |
C___2558610_10 |
|
|
mucoepidermoid
carcinoma translocated 1|KIAA0616 protein |
MECT1|KIAA0616 |
Intron |
19 |
18689546 |
0.14 |
0.25 |
0.34 |
0.24 |
hCV2558610 |
AGGGTGCAGGGTTCCGGGGTGGGCCAAATGCCGGGTGGGA[G/A]CAGAGCAGGGCCGCAGGGACATGGGAGGGCCTCTCGCAGG |
G |
G |
C__15872025_10 |
rs2240887 |
|
mucoepidermoid
carcinoma translocated 1|KIAA0616 protein |
MECT1|KIAA0616 |
Intron |
19 |
18721919 |
0.26 |
0.22 |
0.18 |
0.2 |
hCV15872025 |
|
#N/A |
#N/A |
C___2544429_10 |
|
|
mucoepidermoid
carcinoma translocated 1|KIAA0616 protein |
MECT1|KIAA0616 |
Intron |
19 |
18733917 |
|
|
0.26 |
0.25 |
hCV2544429 |
GAAGGTCAGCGCTGGGGCTGCAGGTACCCCTGCCCCGCAT[A/G]GAAGCCACCATCTCCCAGCCCCTGCTTTTCCCCTCACATC |
A |
A |
C___2257395_10 |
rs730079 |
|
cartilage
oligomeric matrix protein |
COMP |
|
19 |
18764495 |
0.47 |
0.1 |
0.17 |
0.23 |
hCV2257395 |
CCAGCCACACTCTGGAGTTACAAAACCCCTTAACCTCCTG[C/G]AATCAGTTAACACTCTCCACTCCCACCTTCCAGTACTCAC |
C |
C |
C___3275072_10 |
rs2313048 |
|
|
|
|
19 |
18776988 |
0.15 |
0.01 |
0.38 |
0.33 |
hCV3275072 |
ACTTCTCACTCTTGGAAATGATCTTCTCGGCTACATTTTC[G/A]TGAGGTTGGGAACGTGGTTTATCCGCAGTTTGTGCCATTG |
A |
A |
C__11706126_1_ |
rs2239371 |
IMS-JST010501 |
regulator
of nonsense transcripts 1 |
RENT1 |
Intron |
19 |
18805025 |
0.14 |
0.16 |
0.5 |
0.34 |
hCV11706126 |
TCCCCATGCATAGGGGCGCTGGCCAGCGGAAGGTTGAGGC[A/G]GAGAAGAATTTTTGCCTCCCATGGAGGAGCACATATTGGC |
A |
G |
C__16172911_10 |
rs2238653 |
|
regulator
of nonsense transcripts 1 |
RENT1 |
Intron |
19 |
18811645 |
0.45 |
0.11 |
0.17 |
0.29 |
hCV16172911 |
AGCCTTTGACCCCCGCGGTTGCACTGTTAGAAGACAGCAC[A/G]TGCCGCCTGGCCAGGGTGCTGTGAGGGCCCCAGGAGTAGG |
G |
G |
C__16172901_10 |
rs2238654 |
|
regulator
of nonsense transcripts 1 |
RENT1 |
Intron |
19 |
18823061 |
|
|
0.17 |
0.28 |
hCV16172901 |
|
#N/A |
#N/A |
C____347583_10 |
rs757115 |
|
regulator
of nonsense transcripts 1 |
RENT1 |
Intron |
19 |
18832322 |
0.48 |
0.06 |
0.18 |
0.28 |
hCV347583 |
CTTGGGGACAGCTTGAGAGGTTGTTGACCCATTCTACTTA[C/T]TTTTAACATGGGACTGAAACTTTTTTTGCCTTCATTTCCT |
C |
C |
C__16172889_10 |
rs2238657 |
|
regulator
of nonsense transcripts 1 |
RENT1 |
Intron |
19 |
18835059 |
0.46 |
0.08 |
0.17 |
0.28 |
hCV16172889 |
|
#N/A |
#N/A |
C___2585295_1_ |
rs2075762 |
|
growth
differentiation factor 1|hypothetical protein MGC10814 |
GDF1|MGC10814 |
Intron |
19 |
18850859 |
0.13 |
0.02 |
0.46 |
0.27 |
hCV2585295 |
CAACACCTTGGCTGCAAACGCCACGATGTACTGCGAGAGG[G/A]GAGGGGAGGTGCCAGTGAGAAGAAAGCCCCCACGCCACTG |
A |
A |
C___2585308_1_ |
rs1468460 |
IMS-JST001943 |
coatomer
protein complex, subunit epsilon|growth differentiation factor 1 |
COPE|GDF1 |
Intron |
19 |
18877108 |
0.38 |
0.23 |
0.19 |
0.32 |
hCV2585308 |
CACGGCACAGTTACAAGCTGGTCAAGTAACATGTTGCTCC[A/G]GGCACAACCTCCACTCTCCCTCCATGAAGCCCACCCTCAC |
G |
G |
C___2547321_1_ |
|
|
coatomer
protein complex, subunit epsilon|DEAD (Asp-Glu-Ala-Asp) box polypeptide
49|hypothetical protein FLJ10432 |
COPE|DDX49|FLJ10432 |
Silent
Mutation |
19 |
18884853 |
0.49 |
0.44 |
0.2 |
0.3 |
hCV2547321 |
ACAGGAAGACGTCCCTCTCCACGTCTCTCTCTGGGCTTGA[T/C]AGCTGTGGGAACCAATGTGAGTCAGGACGCACAGTGGGAG |
C |
C |
C__25756868_10 |
|
|
coatomer
protein complex, subunit epsilon|homer homolog 3 (Drosophila)|DEAD
(Asp-Glu-Ala-Asp) box polypeptide 49|hypothetical protein FLJ10432 |
COPE|HOMER3|DDX49|FLJ10432 |
Intron |
19 |
18896428 |
0.01 |
0.26 |
0.01 |
0.07 |
hCV25756868 |
CCCTGCCTTCATGCATTCCCAATTTTCTTCCCAACCCTGT[G/T]CAGAAAGAACGCTTTGCCGCCCTAGCCAAGTTCAAGTCCA |
T |
T |
C__11462980_10 |
rs1122821 |
|
homer
homolog 3 (Drosophila) |
HOMER3 |
Intron |
19 |
18911957 |
0.4 |
0.14 |
0.45 |
0.38 |
hCV11462980 |
TGCCCCCCCTATCCTGTCCTGGGCAGCTGCTGTCCTGGTC[G/A]CAGGGTCTGAAACCGGAGCCCCTGAGTGGGGGTGGGGCGG |
G |
G |
C__25750172_10 |
|
|
hypothetical
gene MGC19595|splicing factor, arginine/serine-rich 14 |
MGC19595|SFRS14 |
Silent
Mutation |
19 |
18997541 |
|
|
0.12 |
0.08 |
hCV25750172 |
ACGATGTTTAGAGCTCGACCTCTGGCCTGGACTTGACTGC[C/T]GCCCCTAAGCACAGAGTCAGCCTCCCCAGGATGGTCCACG |
C |
C |
C___2615508_10 |
|
|
hypothetical
gene MGC19595 |
MGC19595 |
|
19 |
19030868 |
|
|
0.13 |
0.08 |
hCV2615508 |
CCAGCTCTTCTGCTCTGAAGTCACACTCAGAGGTCACACC[A/G]TGGTCACTAGGTGGCTTGTGCATCTCTTGTGGCCTGACGG |
G |
G |
C__11462961_10 |
rs2012318 |
|
|
|
|
19 |
19069240 |
|
|
0.13 |
0.08 |
hCV11462961 |
CCCAACAGAGCTGGAAGAACACCTGGATATGGCTGTTGCT[C/T]TGCATGCCGGAGAGGAGGGGGTCTGCAACGTGGATCCCAC |
C |
C |
C___2560994_10 |
rs4632263 |
|
|
|
|
19 |
19073298 |
|
|
0.22 |
0.37 |
hCV2560994 |
TAGTCAGGTGCACACAGGCTGTGGAGGGAACTGAAGTTTG[T/C]ACGTGGGCCAGTCCTATTGTGAGCCTGTCTCTGAGAATGT |
T |
T |
C___2537006_10 |
rs11729 |
|
hypothetical
protein FLJ20422 |
FLJ20422 |
UTR
3 |
19 |
19091482 |
|
|
0.06 |
0.03 |
hCV2537006 |
TGCTCCTTTATTTGTTCAGAAGAGCAGCCAGCATCACCCT[C/T]GCCACTCAAACCTGGCACATACGCTTCGGAGACAATGGCC |
T |
T |
C___2537024_10 |
|
|
MADS
box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor
2B) |
MEF2B |
Intron |
19 |
19131658 |
0.32 |
0.22 |
0.2 |
0.23 |
hCV2537024 |
TAATGGAGATGGGGTGCTGGAGGGAATCCCACCCTTCCAC[A/T]GACCCTTCCCCTCTGGCCTCTCTGCGTGGTAGGACTCAGT |
A |
A |
C___2537034_10 |
rs2314034 |
|
MADS
box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor
2B) |
MEF2B |
Intron |
19 |
19143770 |
|
|
0.18 |
0.21 |
hCV2537034 |
GCTTGTGTCTCTCCCCACACCTCAGTTTACCCGTCTGTGA[C/A]ATGGGCAGTGTGGGCCTCTAGTCTGAGCACAACTTTCTCT |
A |
A |
C__11462955_1_ |
rs1050483 |
IMS-JST000533 |
MADS
box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor
2B)|TR4 orphan receptor associated protein TRA16|regulatory factor
X-associated ankyrin-containing protein |
MEF2B|TRA16|RFXANK |
UTR
5 |
19 |
19164802 |
0.13 |
0.25 |
0.49 |
0.45 |
hCV11462955 |
CCGGCAGAGGAAGCCAGATCGCTGAGGGTCCGGTCTCCAG[C/T]TTGCCTCCTGCTATATCCATTGGAAGAGAAAAGTTTGTGA |
C |
C |
C__15959251_10 |
rs2283626 |
|
MADS
box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor
2B)|TR4 orphan receptor associated protein TRA16|regulatory factor
X-associated ankyrin-containing protein |
MEF2B|TRA16|RFXANK |
Intron |
19 |
19165965 |
|
|
0.49 |
0.44 |
hCV15959251 |
GTGTTTCCTCTCCACAGGGTAGGATACCTCCTCTGGGATT[A/G]GCCCTCTGGGATTCCATGATGATGGAATGTCAGGCCTCAC |
G |
G |
C__25620504_10 |
|
|
chondroitin
sulfate proteoglycan 3 (neurocan) |
CSPG3 |
Intron |
19 |
19212353 |
0.01 |
0.15 |
0.06 |
0.05 |
hCV25620504 |
TCTTTCCTCCCACACCCTACCCCACCTCACCTGCAGCCTG[C/T]GCCCTGGGCCAGGAGAGGCATGGGTGAACACCCAGACCCA |
C |
C |
C___1841617_10 |
|
|
chondroitin
sulfate proteoglycan 3 (neurocan)|transmembrane 6 superfamily member 2 |
CSPG3|TM6SF2 |
Intron |
19 |
19219672 |
0.25 |
0.4 |
0.28 |
0.34 |
hCV1841617 |
AAGAGACAGACAGACACAGTCACTTCCAGCCCTGTGAGAT[C/A]AGAACTGGGCAGAGGCAGGGACCTGTTGACGAGCTGAGGG |
C |
C |
C___1843609_10 |
|
|
transmembrane
6 superfamily member 2|splicing factor 4 |
TM6SF2|SF4 |
|
19 |
19242439 |
|
|
0.08 |
0.07 |
hCV1843609 |
AAGGTTGCATGACCACAGTCCTGCCTCATTCTGCATGTCT[G/C]ATGGAGGAGACACAGCCTGGCTCTCAGAAGTCCCTGGTTT |
C |
C |
C___2562493_1_ |
rs2074550 |
IMS-JST001472 |
splicing
factor 4 |
SF4 |
|
19 |
19248743 |
0.29 |
0.32 |
0.32 |
0.32 |
hCV2562493 |
CCACCACCCTCTCCTGTCGACTGAGCAAAGGCAGCCCAGG[A/C]GGACATGCGTACCAGGGGGTTGGGCCGGAAGCGGTAGGCC |
C |
C |
C___2562528_10 |
rs1859287 |
|
splicing
factor 4 |
SF4 |
|
19 |
19283187 |
0.16 |
0.44 |
0.32 |
0.33 |
hCV2562528 |
CTTTGCAAAAAAAAAAAAGAGGGAGAGAGTGAAGATAAAA[T/C]ATAAAATGCCCTGTGATTCTTCCAGCAAGATTGCTTTGGC |
C |
C |
C___3088816_10 |
|
|
|
|
|
19 |
19304466 |
0.34 |
0.33 |
0.33 |
0.33 |
hCV3088816 |
TTGTATTTGGAGCCTTTGGGCACATTACTTCCCAGCTCAC[C/T]AGTGCTCACTGAGAGCCTCCCCTTCCTCAGGGGAGATGGG |
C |
C |
C___2615376_1_ |
rs2074089 |
IMS-JST000806 |
|
|
|
19 |
19310603 |
0.32 |
0.33 |
0.33 |
0.33 |
hCV2615376 |
GTTTGGTTGAGTTTGCTAACAGAGCACGAAGGCAGGTACC[A/G]TAAAACTGATGGGTTTGGCAGCAAAGGTCACTGCTCTCTT |
G |
G |
C___2615377_1_ |
rs2074090 |
IMS-JST000807 |
|
|
|
19 |
19310686 |
0.33 |
0.32 |
0.33 |
0.32 |
hCV2615377 |
CTTTTTAGCAACTGCACACGCTTGAGAAGGACCTGGTGTC[G/T]GCCTGTGACCTCCTGGGTGTAGGGGCCGAGTACGCCCGGG |
G |
G |
C___2615381_1_ |
rs2301668 |
|
|
|
|
19 |
19313249 |
0.18 |
0.25 |
0.33 |
0.34 |
hCV2615381 |
CCGGGCAGGTGTGTGGCGCCTCTCAGGCGAGCTGCTGGTT[A/G]TGACCAGTGGGTATGGGTGGTACCCAGGCCAATGGGTCTT |
A |
A |
C___2615384_1_ |
rs2301669 |
|
|
|
|
19 |
19314560 |
0.33 |
0.33 |
0.33 |
0.32 |
hCV2615384 |
CGGGGGGCGGGGGCAGGGAGAGGGAGAGGGCCCTGGTAAC[A/C]CCTGCTGTCTGGTCTTGTCGCTAGGTGACTGTGATGCACT |
C |
C |
C___2615388_10 |
rs968525 |
|
|
|
|
19 |
19320215 |
|
|
0.32 |
0.3 |
hCV2615388 |
AGGAAAAAGAAAGCCCAGCCCCGGCTTAGTCATCCGATGC[C/T]ATACGTGGGCTCGCAGTGTTGAGGAGGAGTTTGGCTCCCC |
T |
T |
C___2615395_1_ |
rs2285628 |
IMS-JST035890 |
|
|
|
19 |
19328996 |
0.18 |
0.32 |
0.34 |
0.35 |
hCV2615395 |
GTGCCTTAGCCACAGGCAGGGCTGTCAATAACCCCCTTCC[A/T]CACTGGCCACCACCTGACATCAGCACCAGTGACAGGCTGG |
A |
A |
C___2615417_10 |
rs2965180 |
|
p66
alpha |
p66alpha |
|
19 |
19352973 |
0.31 |
0.3 |
0.32 |
0.33 |
hCV2615417 |
CTCAGACACTTGCAGGATGTGGTAAGTACTATGACACAGG[T/C]GCACAGAAGGTGCTCTGGGAACAGCTTGTCTTCATGTTTA |
T |
T |
C__11462940_10 |
rs1858999 |
|
p66
alpha |
p66alpha |
|
19 |
19358669 |
|
|
0.33 |
0.33 |
hCV11462940 |
CTCCCTTCTTTGGGGATCCCCAACTCTTTGAGAATTCCCG[C/G]TTATCTGAGGGGACTCCCTTCTTCACTGAGGGTCCCTCTA |
C |
C |
C__11520472_10 |
|
|
p66
alpha |
p66alpha |
|
19 |
19371363 |
0.08 |
0.02 |
0.11 |
0.07 |
hCV11520472 |
TTCAAACTTTAGCCTTTATATTTAACCTCTCAAATTGTCT[G/C]TATTGAAGGTTACCTTTTTGACCTAAATTTGAAATAAATA |
G |
G |
C___8159976_10 |
rs2965189 |
|
p66
alpha |
p66alpha |
|
19 |
19380518 |
0.35 |
0.29 |
0.33 |
0.34 |
hCV8159976 |
TCAACAAATATCAGAGTGCATACTGTGCCTTCGACACTGC[G/T]AGGAATCCCTCCTCAGTAGAGTTTATAGTGAGATTAGTGG |
T |
T |
C___8159987_10 |
rs2965188 |
|
p66
alpha |
p66alpha |
|
19 |
19383557 |
0.34 |
0.3 |
0.34 |
0.34 |
hCV8159987 |
CCTAACAGGATGCTGTGAGGACAAGTGGAAAGTGTCTACA[G/A]GCAGTCAGGGGTATTCCAGCCTTTGCCTCTCCATTTACCT |
A |
A |
C___8160000_10 |
rs2916074 |
|
p66
alpha |
p66alpha |
|
19 |
19391270 |
0.35 |
0.3 |
0.33 |
0.34 |
hCV8160000 |
CCTGGGAGTTTCTAGCAATTCAGTAGAGGGTTAGGTTAAC[G/A]TGCACTTAGAGGAATAGAGGAATCCTGGGTCTGTAATGAT |
A |
A |
C___8160048_10 |
|
|
p66
alpha |
p66alpha |
|
19 |
19400891 |
0.06 |
0.12 |
0.21 |
0.19 |
hCV8160048 |
GCCGGTGGTAGAAACCTCTTGGTTGGGTCCTGACAACTCG[C/T]GGAGGTCCCCATTTTGTAGTCTCCTCCTCCGTGCCCACGT |
C |
C |
C___8160084_10 |
rs2965183 |
|
p66
alpha |
p66alpha |
|
19 |
19406696 |
0.35 |
0.3 |
0.33 |
0.34 |
hCV8160084 |
GGATGACCATGACCTTTGGTTTTGGAGGTGAAGCCCTCTC[A/G]GTCTGGAGGGTGAAGTCCGCTCATTCCCAGGCACATCATG |
A |
A |
C___8160170_10 |
|
|
p66
alpha |
p66alpha |
Intron |
19 |
19458055 |
0.32 |
0.3 |
0.33 |
0.34 |
hCV8160170 |
CTCTTTCCTCAGAAAGCTGTCAGGTCAGGCAGATGTTTCA[A/G]GTTTGCCATTGCTTCCATCTGGGAGCTGCAAGGCGAAGGC |
A |
A |
C___8160174_10 |
rs751856 |
|
p66
alpha |
p66alpha |
Intron |
19 |
19463945 |
|
|
0.33 |
0.33 |
hCV8160174 |
CACCTGGGCACTGGGATTGGGTGCCCTATGACGTGTGGGT[G/A]AGAAGAAGGAGGCAGCCTGGGAGCCATGGGGCAGGGCAGG |
G |
G |
C___8160178_1_ |
rs2288852 |
IMS-JST040216 |
p66
alpha |
p66alpha |
Intron |
19 |
19466348 |
0.32 |
0.3 |
0.33 |
0.33 |
hCV8160178 |
CTTCTGAGTAGGCTGGAGTGAGGCCCTCCAGCCCACAGCC[T/C]AGGGGAAGAAGCACACGTGCACTTTCCAAGCCCCACGGCC |
C |
C |
C___8160187_10 |
rs1054284 |
|
cell
death-regulatory protein GRIM19|p66 alpha|serine/threonine protein kinase
SSTK |
GRIM19|p66alpha|SSTK |
UTR
3 |
19 |
19477953 |
0.32 |
0.31 |
0.32 |
0.33 |
hCV8160187 |
AGCCCCTGGCAGGGACGGCCGGCCCGCCCCCGTGACTGAC[G/T]GACAGATGCAGGGATGGCCGAGGCAGCCCTCGCTCCAGCT |
G |
G |
C___2537461_10 |
|
|
endothelial
differentiation, lysophosphatidic acid G-protein-coupled receptor,
4|pre-B-cell leukemia transcription factor 4 |
EDG4|PBX4 |
Intron |
19 |
19589648 |
0.22 |
0.05 |
0.24 |
0.22 |
hCV2537461 |
GTTCTTCAGTCTCCTGCAGACATTCCTGAGTCCCATTCCC[A/C]GCCACTCACTCTCCATCATCTGCCCTGGAAACTTCCCACC |
C |
C |
C___7494355_10 |
rs880090 |
|
Gem-interacting
protein|endothelial differentiation, lysophosphatidic acid G-protein-coupled
receptor, 4 |
GMIP|EDG4 |
UTR
3 |
19 |
19601729 |
0.3 |
0.39 |
0.34 |
0.2 |
hCV7494355 |
TGGCCACTAGGTGGTGGGAGGTAGGGATATATGGGTCCGT[C/G]TTCACAATCTGGGCCTCTTCCTTATTTAAGGTGCCAGGGT |
C |
C |
C___8160268_10 |
|
|
Gem-interacting
protein|ATPase type 13A|CGI-152 protein |
GMIP|ATP13A|CGI-152 |
Intron |
19 |
19618262 |
0.26 |
0.39 |
0.28 |
0.16 |
hCV8160268 |
CAGGCAGTAACATCCCCTGCCTCCCGGGAGACCTTGTGTA[C/G]AGCCACCACCAAATCCTGGGGGATTCCATGGGTCAGCACC |
G |
G |
C___8153305_10 |
|
|
zinc
finger protein 101|zinc finger protein 12 |
ZNF101|HZF12 |
Intron |
19 |
19649845 |
0.08 |
0.04 |
0.24 |
0.16 |
hCV8153305 |
AAGGACATTTCCTTCCTTAGTCAATTAGAAGACAAGTGTG[C/T]TTTGGTCACCAGTGTGGTTGCACAGTTTGGAATGTGGAAA |
C |
C |
C___8160417_10 |
|
|
zinc
finger protein 14 (KOX 6) |
ZNF14 |
UTR
3 |
19 |
19683049 |
0.42 |
0.32 |
0.46 |
0.46 |
hCV8160417 |
CAGTGGGAATTCTTTCGTGCTCAAAAGAAACTGGAACAAT[T/C]AAGGGCTTTAGAACAATGTTTGTATTCACACAGCTTCTGT |
T |
T |
C___3060370_10 |
rs247788 |
|
hypothetical
protein MGC39821 |
MGC39821 |
|
19 |
19724034 |
0.28 |
0.33 |
0.31 |
0.38 |
hCV3060370 |
CTCTTCCCAGATTGGCCCAGGCAGGACCTGGATTCTGTCT[C/G]GGACCTGTTACTGCTGTCCAAGCAGCAACGCATCAAATTC |
C |
C |
C__11462884_10 |
rs737195 |
|
hypothetical
protein MGC39821 |
MGC39821 |
Intron |
19 |
19747197 |
|
|
0.46 |
0.38 |
hCV11462884 |
ACGTGAACAATGTCTTGGAGGTTAACATCCAGGTTTTTAC[G/A]TATTAGATGTAACAACATGAAAGCTGGTACCATCTGGGAA |
G |
G |
C___7497029_10 |
rs1008112 |
|
zinc
finger protein 253 |
ZNF253 |
|
19 |
19870057 |
0.24 |
0.19 |
0.37 |
0.48 |
hCV7497029 |
AGCCATATATTTGCTTTGCTAAAGGAAACACTCCTTCCAA[T/C]TGCCAGTTTAACCAATGTAATCTGGTGCAAATTTCTATTC |
T |
C |
C__15856749_10 |
rs2215915 |
|
zinc
finger protein 505|hypothetical protein FLJ12488 |
ZNF505|FLJ12488 |
|
19 |
19915746 |
0.02 |
0.25 |
0.04 |
0.14 |
hCV15856749 |
AGGTGCCACAGTAGAATTTGCAGTCATGGTACAGCATGCA[A/G]ACCCTAATTACAGCCATATGGGCAGCATGGGGGAGGTCAT |
G |
G |
C___3276464_10 |
|
|
hypothetical
ZNF-like protein |
LOC91120 |
|
19 |
19970118 |
0.05 |
0.09 |
0.17 |
0.13 |
hCV3276464 |
GAGATGACATTTATACCATGATGACAATGACAATAGGGAG[C/T]CAGCGCTGCAAAAGAATGTGTCAGAAGAAGCCACCCTTAG |
T |
T |
C___2663851_10 |
|
|
hypothetical
ZNF-like protein |
LOC91120 |
|
19 |
20001862 |
0.2 |
0.19 |
0.48 |
0.41 |
hCV2663851 |
TGGGTAAGGCTGGGACAGGGAGAGGGCCCTAGGTAGAATT[T/C]TGATCTCCATGTCACTGGGGTATTTCCAATTCTGTGTTTT |
C |
C |
C___2663853_10 |
|
|
hypothetical
ZNF-like protein |
LOC91120 |
|
19 |
20004022 |
0.19 |
0.2 |
0.49 |
0.43 |
hCV2663853 |
CAGGGCCTGGATTCAAATTTGGGGGTTTCAGATTTAGGTT[T/G]CAGAGGTATGGGAAAGTAGCAGGTGCCCTTTGCACATTCT |
G |
G |
C___2830307_10 |
|
|
|
|
|
19 |
20582649 |
0.09 |
0.26 |
0.08 |
0.03 |
hCV2830307 |
TATGTAAATATCAACAAAGCTTTATCTTCAAGGGCAAAGC[T/C]GCAGAAATAAACTGAGAATAAAGCCATGTAACTCATCTGT |
T |
T |
C__11462525_10 |
|
|
similar
to DNA-binding protein; zinc finger protein 253 |
LOC199777 |
Intron |
19 |
20626554 |
0.11 |
0.34 |
0.22 |
0.15 |
hCV11462525 |
AATATAGTTGTGGTCATAACTGGATATTTTGTGGCCTTGT[T/G]CTCTCACTCTTAAGATGCTTTTTTTTTACACTTACACATA |
G |
G |
C___3281468_10 |
|
|
|
|
|
19 |
21201873 |
0.41 |
0.44 |
0.47 |
0.44 |
hCV3281468 |
ATAGAGGTAATGATATTGGAAGCAGACATATGGCTGATTC[G/A]TAGTTGATTTTGCTCAACACTGTCTTAAATTGTACAGAGT |
G |
G |
C___3281473_10 |
rs584725 |
|
|
|
|
19 |
21208984 |
0.19 |
0.35 |
0.34 |
0.34 |
hCV3281473 |
GGAACTGAAGGAACTTACAGGACCTATAGGGACCCATAGG[A/G]ACAGTCGAGGGACAGATAGGAAAAGATAAAGACTAGCAGA |
G |
G |
C__11461981_10 |
rs2061915 |
|
|
|
|
19 |
21250873 |
|
|
0.46 |
0.43 |
hCV11461981 |
CAATTTTAATCTTCACTGCATCATGTCAGATTTGTAAAAA[T/C]TCACGAACACCAAAAGAAACTCCAACAATTAGCAACAACA |
C |
C |
C___3116966_10 |
rs541639 |
|
|
|
|
19 |
21264405 |
0.06 |
0.13 |
0.32 |
0.32 |
hCV3116966 |
ACACAGCACAGTGTATGAGAGGAGCCAATGTAGTTTAGGG[C/T]TTCTAAGCTTGGGGCACCTGGAGTTTCTGGTGCTGATGGT |
C |
C |
C__11461932_10 |
rs685844 |
|
|
|
|
19 |
21283791 |
|
|
0.13 |
0.1 |
hCV11461932 |
ATATTAAAGTTAAAAAAACAAAACAGCTGCCTAGAAACTT[T/A]GGAACACAGATTTCCAAGTCAAATTTTAAGGACTGGTTTT |
A |
A |
C___7497240_1_ |
rs2306346 |
IMS-JST063937 |
|
|
|
19 |
21333646 |
0.42 |
0.31 |
0.47 |
0.44 |
hCV7497240 |
GGCTTCCGGGATGTGGCGGGATTTGTCCGCTTCTTTGTCT[C/T]TGGCTGCCGCTGGAACTCCGGGTCTCGTCTTCACTGCTCT |
T |
T |
C__16261838_10 |
rs2562408 |
|
|
|
|
19 |
21501721 |
0.21 |
0.03 |
0.36 |
0.42 |
hCV16261838 |
ACTTTAGTGTACAGATGAGTTGTCTTCATTTGTATCAGAA[C/G]TTTTTGTGTTGTGACAAGAGTCCTGAGTGGAAGGGACTCT |
C |
C |
C__11521780_10 |
|
|
|
|
|
19 |
21613806 |
0.23 |
0.36 |
0.38 |
0.44 |
hCV11521780 |
GTGAGCTTTTTTGTTTTTTGGGAGTATTTTTTGCTGTGAC[A/G]TAGGGGCATCTTCTCTCTTATGCTTTTAAATTCTTTAAAG |
G |
G |
C__11520066_10 |
|
|
zinc
finger protein 100|hypothetical protein LOC163227 |
ZNF100|LOC163227 |
Intron |
19 |
21724414 |
0.33 |
0.4 |
0.38 |
0.33 |
hCV11520066 |
ACTGTAGCAGGTCACTCACTAAACAAGATCTGAAAAGCTT[C/G]AAGAGCCACACTCTCAAATGGGGGCTTCAAGATTTCTACA |
G |
G |
C___1516131_10 |
|
|
zinc
finger protein 43 (HTF6) |
ZNF43 |
Intron |
19 |
21811858 |
0.19 |
0.14 |
0.19 |
0.22 |
hCV1516131 |
ATAGAAAATCTCTAATGTGTTCCCATGATATAGTATTACT[T/C]GAAATATAAACTGGGCAAACTCAGCAAAAGACAATTTAAT |
C |
C |
C__15774714_10 |
rs2359810 |
|
zinc
finger protein 208 |
ZNF208 |
|
19 |
21944367 |
0.47 |
0.37 |
0.24 |
0.36 |
hCV15774714 |
CCTGTAGTACAAAATGTGTACAATAAAATCTGTGATACAA[A/G]TACATGTACTACAACCCTCAATATTTATAATGTGTTTCCT |
G |
G |
C__15775078_10 |
rs2359995 |
|
zinc
finger protein 257 |
ZNF257 |
|
19 |
22071900 |
0.41 |
0.28 |
0.3 |
0.21 |
hCV15775078 |
AAAAAAGATATTAATATTTGCAATACATAAAATTGGAAAG[T/C]AGTTAATTATTTGGAGATGATATCTTTGTTTACTTAGATA |
C |
C |
C___7496249_10 |
rs987711 |
|
|
|
|
19 |
22091847 |
0.4 |
0.29 |
0.28 |
0.22 |
hCV7496249 |
AGGCCCCAGTGAGAAAGAATAAGCATTCTGAAATTGAGGT[G/T]AGGGTCTTTGTCCTGGGACTGGTTTATCTCTGGTCGTATG |
T |
T |
C___8148670_10 |
|
|
|
|
|
19 |
22349214 |
0.48 |
0.14 |
0.38 |
0.2 |
hCV8148670 |
CTAATTATAAAACTGACACTCAGCATTTAAGTGGTTGTAT[A/G]TCTAGTGTTACTAGTGTACTAGACAGCAATTCTCAATGAG |
G |
G |
C___7495076_10 |
|
|
|
|
|
19 |
22437474 |
0.11 |
0.27 |
0.12 |
0.08 |
hCV7495076 |
GAAATGGGTGGACTTTTTTTGCAGCTCTGGGTCCTTCTGC[T/C]TGTGGGCGTGGTGGTAGTAGGTGAACATGTGGTGCTGACA |
C |
C |
C___2556631_10 |
|
|
|
|
|
19 |
22476584 |
|
|
0.33 |
0.31 |
hCV2556631 |
TCAGAAGTGTTGTTACTATAGCTCTACTCAGCTGGGTCTC[A/G]TTTCTGGAAACCATATTTAGTTGTCAAACAGTATAATGTG |
G |
G |
C___8163344_10 |
rs2915929 |
|
|
|
|
19 |
22484891 |
0.37 |
0.4 |
0.41 |
0.23 |
hCV8163344 |
AGGTGGAGGGTCAGGCTTACAGACGGGACGGACCCTCAGG[A/C]ACAGTGACAGCAGCCCAGCCACTAGGGCCTGTCCACAAGC |
C |
C |
C___3131897_10 |
|
|
|
|
|
19 |
22581103 |
|
|
0.38 |
0.24 |
hCV3131897 |
GGCCCTTCTCCTTTACTTCCTAACCTGGTCACTGGCCATG[C/G]TGGCAGCACACCCTTCCTGGAGGAAGGAGAGCCAGCCACC |
C |
C |
C___1936265_10 |
|
|
|
|
|
19 |
22584302 |
0.22 |
0.42 |
0.37 |
0.23 |
hCV1936265 |
TCTTCTCGTCAGTCCACAAGCAACGTCAGACAAGTGTTTC[T/A]TCACCCAAAGACCCCCACCCTGCAGGGCTGCCCAGGCCCA |
A |
A |
C___7497162_10 |
rs417715 |
|
|
|
|
19 |
22809138 |
0.29 |
0.27 |
0.32 |
0.29 |
hCV7497162 |
GGGTTTTGTGTCCGCAGTCACCATTTAGTGTTTTTCTCCT[C/T]CTGGATTTTAGTACTCTCTGTGAATAAACGAAGATACTGT |
C |
C |
C__11461549_10 |
rs1963974 |
|
|
|
|
19 |
22818147 |
0.29 |
0.29 |
0.33 |
0.28 |
hCV11461549 |
GAAAAACAACCAGGATGTCTGGAGACTCAAACAAATAAAC[A/G]AATTGCTTTTATTTTATATGGCGATTAGAAAAATAGATGA |
G |
G |
C___1878046_10 |
|
|
|
|
|
19 |
22831317 |
0.15 |
0.34 |
0.13 |
0.16 |
hCV1878046 |
ATTTAGTCTCAGCAAACTCAAAGGGTCACTTCAAAGTATA[T/C]GACCAGTTATTTTAGCACTTTATGTCATTGGAAACAGAAA |
C |
C |
C___7495285_10 |
rs771351 |
|
|
|
|
19 |
23047347 |
0.2 |
0.48 |
0.15 |
0.11 |
hCV7495285 |
CCTCAGGCTTTAAACACACACGTTTTCTGTAATCCAGGCT[A/C]ATTTGATTGTGAGGGCTGTTGTCAGAAATGTTACTAAGAG |
A |
A |
C___3087739_10 |
|
|
|
|
|
19 |
23049047 |
0.01 |
0.07 |
0.15 |
0.05 |
hCV3087739 |
TTCCCGCCCCCAGTTTGATTTGCAGGCTCCTGGTTGTGTT[A/G]CAGTAAACACGCTTTCCTCTGGCCTTGTCCAATGAATACG |
A |
A |
C__11520228_10 |
rs2085999 |
|
|
|
|
19 |
23090706 |
0.2 |
0.47 |
0.14 |
0.1 |
hCV11520228 |
TACATGTAGATATGTATGCATGTGATTGGTCCTTAGTCCC[C/T]GCACGCACAGGAGAAAACGTAAAACTACATCCTGACACTT |
T |
T |
C___2094488_10 |
rs4932841 |
|
|
|
|
19 |
23206007 |
0.39 |
0.24 |
0.21 |
0.23 |
hCV2094488 |
AGACAGGTGATCAGGTCTGGCTTAGAGACAGCAATACCTG[G/T]TTTATTAAAAATAAATAACATGAATGTTGCTCATATTCTT |
T |
T |
C__15779089_10 |
rs2362133 |
|
|
|
|
19 |
23226046 |
0.13 |
0.26 |
0.08 |
0.13 |
hCV15779089 |
ACCTGTTGACCACCTTCCTTCCAGATTAAACAGTGAACAA[C/A]AAGTGATGGGGTGACAGGAGAAGTAAACTCTATGTCTTCA |
C |
C |
C___2930566_10 |
rs295357 |
|
|
|
|
19 |
23229879 |
0.41 |
0.24 |
0.21 |
0.22 |
hCV2930566 |
CACTTTGCTAAACAATGCATTATTTCTGAGGACATCTGAA[T/A]CTGTTTCTGTACCAATGGTCTTAATCAGAACATCACATAA |
T |
T |
C___2930558_1_ |
rs295363 |
|
|
|
|
19 |
23237860 |
|
|
0.2 |
0.24 |
hCV2930558 |
ATTCTAAAAATTGTCAGGGAGCGCTTACATGAAACATGAT[T/C]TAACCTGTTTGCTGGGTCCTATGATGACATGCTCTGTATC |
C |
C |
C___2930491_10 |
rs422044 |
|
|
|
|
19 |
23279090 |
|
|
0.2 |
0.15 |
hCV2930491 |
CAACATGTTCCTAAAATGCTGAGTCATAATTCAAACCATA[A/C]AAATCAAAGAGGTAGAATGCTTGGACCCCAACATTTTTAA |
A |
A |
C___2420425_10 |
rs40561 |
|
zinc
finger protein 91 (HPF7, HTF10) |
ZNF91 |
|
19 |
23333212 |
|
|
0.2 |
0.04 |
hCV2420425 |
TGACAGTAATTACACTTCTTATTTAGTATGAACGCTCTGA[A/T]TTTGAGTACGATGTGAGCAGGTATTAATGGCTTTTTGTCT |
A |
A |
C____933287_10 |
|
|
|
|
|
19 |
23401943 |
0.38 |
0.34 |
0.5 |
0.27 |
hCV933287 |
AACACTACTACTGGTGAGAGCTATCTGGTAGACCTTAGAA[A/G]TGGCAAGCTGGCAGCCAAGTCCAATGCTCGCAGCCAACAT |
A |
A |
C____496617_10 |
|
|
|
|
|
19 |
23454953 |
0.07 |
0.22 |
0.44 |
0.26 |
hCV496617 |
CAAAATCATTCTACAAAGGGAGAAAATAGAAGCCTTAGGG[C/T]GTATTAGAAAACCTGGGGAAAATGTATTGACACCGAGAGA |
C |
C |
C___9612508_10 |
rs1594681 |
|
|
|
|
19 |
23840926 |
0.09 |
0.22 |
0 |
0.06 |
hCV9612508 |
CACAATTTATCGCATGTCTGCAAGATGCAGTGCAGCTTCA[C/G]ATCACTCATGCCTCTGCTGCAGAAATGCTTACCATAGCTC |
C |
C |
C___9062218_10 |
|
|
|
|
|
19 |
23936991 |
0.15 |
0.05 |
0.28 |
0.43 |
hCV9062218 |
CTTTTCCTGGCTGGATGAGTCTCTTTCACTGTGATATGTC[T/C]TCTATGATATTAGCAACTGTCTATCTTTGCAATGCAAGTA |
T |
C |
C___9062182_10 |
|
|
|
|
|
19 |
23966999 |
0.26 |
0.22 |
0.32 |
0.16 |
hCV9062182 |
CATCTAGAAATGCTCAACACCAGTCACCTAGCTTTCCTCA[A/C]AAAGAAGCTTTTGCCGAGCCAGTAAGAATTACCTTTGTCA |
C |
C |
C__11523815_10 |
|
|
|
|
|
19 |
23973662 |
0.12 |
0.17 |
0.31 |
0.17 |
hCV11523815 |
CTCTCTCTTTTTGTTTGTGACACCAAACGGAAGGGTGAAG[T/C]GTGACAAAAAATAAAACATGACATGGGAAGGTGAGCACCA |
C |
C |
C__11523810_10 |
rs2916062 |
|
|
|
|
19 |
23976101 |
|
|
0.14 |
0.03 |
hCV11523810 |
CATAGCATCCTCGGGGCTCCAGCGGGAGCGACCACCCTCA[C/T]CACTCCCATCCACTCTCAACTGCTGGCAATGGCCGGGTAT |
T |
T |
C___2680936_10 |
|
|
|
|
|
19 |
24014626 |
0.13 |
0.12 |
0.22 |
0.12 |
hCV2680936 |
GTTTTGGTTAAGTCGGTTGTTAGTGTGTCATGCAAAATAG[A/G]GAAGAGGCTTAAACCATTAAAATCAGAAAAATTCTGGGAG |
G |
G |
C__11521481_10 |
|
|
|
|
|
19 |
24030291 |
0.2 |
0.47 |
0.33 |
0.17 |
hCV11521481 |
AAAAAGTATACATCATCATATTCTCACATAAACACAGCCC[A/G]CTTTTGAAGTTCTGGATCACACCTAGAGGAAGTCAAAGGT |
G |
G |
C__11523765_10 |
|
|
|
|
|
19 |
24130229 |
0.1 |
0.09 |
0.23 |
0.11 |
hCV11523765 |
GTTTAAGTACAGGACATGAAGTATAAAAATATGAGGCTTA[C/T]TTAAGGACAGGGTAGGACAAGAAGTGGAGTTTGACAAAAG |
G |
G |
C___2195145_1_ |
rs2241024 |
IMS-JST012763 |
|
|
|
19 |
32949233 |
0.24 |
0.03 |
0.26 |
0.22 |
hCV2195145 |
ACACCTGGGCAATCCCAGGTGTTCTAATGGGAGAGACTCC[T/C]GACCGACCCCAGGCGTTCTAATGAGAGAGACTTCTAGCTG |
A |
A |
C___2195164_10 |
|
|
|
|
|
19 |
32974877 |
0.23 |
0.1 |
0.11 |
0.01 |
hCV2195164 |
ATCTTCCCTACGGTGGGAAAGGTTGAAATTCTCATTCAGT[C/T]ACACACACGTATGTATGTATTGTATATAGATGAATGTTTC |
G |
G |
C___2195168_10 |
|
|
|
|
|
19 |
32979945 |
0.36 |
0.17 |
0.29 |
0.28 |
hCV2195168 |
CTTTCTTCTGAGGCATTTAAAGTATTGATGTGTGTTTCGA[C/G]TGCAGGAGGTCAGATTATACATTGACATTTGTCCTTGACC |
C |
C |
C___2195169_10 |
rs759048 |
|
|
|
|
19 |
32981915 |
0.34 |
0.5 |
0.17 |
0.23 |
hCV2195169 |
CCGAGTGAAATAGAACAAAAACCCATGAAGTCACATAGGT[C/T]GATCTGAGTGTAAAGAAGAATTCGCTTCTATTGGATACAG |
A |
A |
C__11494771_10 |
|
|
|
|
|
19 |
33171818 |
0.16 |
0.45 |
0.09 |
0.13 |
hCV11494771 |
GTAAGAGTTTGTAGAATAGACAAGGTGGAAAAGACAAAGC[G/A]ATTTTTCTTACAAGAAGGTAGCAGCCTAATTTGAGAATCA |
T |
T |
C___3057412_10 |
rs347787 |
|
|
|
|
19 |
33514009 |
0.49 |
0.3 |
0.17 |
0.35 |
hCV3057412 |
GCCTAGCTGTTAAGTATTTTGAACATCTCTCCTGGGTATA[C/T]GGTAGATGCTCAGGAAGCAACTGCTGAATTAAATGTTCTA |
A |
A |
C__11716458_10 |
|
|
|
|
|
19 |
33788782 |
0.45 |
0.14 |
0.38 |
0.34 |
hCV11716458 |
TGCTCAGCTGATTCTTTAGTTAATATTAAGTAGAAAAAGA[A/G]CTTGTTGGAAGGATAGCAAGTTGCTTAGAGCCAGTTTTCT |
C |
C |
C__11468203_10 |
rs1861173 |
|
|
|
|
19 |
33819937 |
0.21 |
0.23 |
0.17 |
0.16 |
hCV11468203 |
CATTAGAGCAGAGCCGTTTTTGTGGGGGTCTCTGTACCCA[T/G]AATTGGAATCACACCTTGAATAAAACATGGAATTTGTTTC |
A |
A |
C__11716479_10 |
|
|
|
|
|
19 |
33911869 |
|
|
0.42 |
0.4 |
hCV11716479 |
CTTTAGGATATGGAGGGGCAGGGAAAGAAAACTCACAAGA[C/A]ATATGTGCTTCTAACAGGTCTCCACTTAGGGAGAGACTCT |
G |
G |
C___2783812_10 |
|
|
|
|
|
19 |
33928331 |
0.32 |
0.33 |
0.12 |
0.08 |
hCV2783812 |
CAGTCCAGCTGTATTGTATGTGAAAATGGTTACTGGGATA[C/G]CTGGGATTCTTAAAAGACATTCCAAGATGTCAGGAGGTTT |
C |
C |
C___3291103_10 |
rs1363330 |
|
|
|
|
19 |
33935419 |
0.35 |
0.32 |
0.28 |
0.22 |
hCV3291103 |
TTCTCAGTGAAGTTTAGAACATGTTATTGAACATTTTTCT[C/T]TTTCCACTGAGATTTCATAGACATACAGAAATATCCAGCA |
A |
A |
C___2882956_10 |
|
|
|
|
|
19 |
33967121 |
0.08 |
0.26 |
0.35 |
0.45 |
hCV2882956 |
TTGCCACCAATTTGTCTGAGAGCCCCTCTGCCCTTGCAAA[C/T]GCAGGCACCACTGTTGGCAGTGATTGGGGAACTTCTGGAG |
A |
A |
C___2882966_10 |
|
|
|
|
|
19 |
33973868 |
0.31 |
0.3 |
0.34 |
0.26 |
hCV2882966 |
GTCTGTCATTATTTAGAGCTGGGGTGGAAATTGCATATAC[A/G]TGTCATGAGTCATATGACAGACTGCATTAAAGCTAGGTCC |
C |
C |
C___8830112_10 |
rs1030099 |
|
|
|
|
19 |
34035456 |
0.38 |
0.41 |
0.41 |
0.32 |
hCV8830112 |
ACACACACATTTTCTATCTTAAAATTTTTAGGTGGAATTC[A/G]TCAGAAACTGCCACTATCTGTTTCAGTAGGGTGAGTAGAG |
T |
T |
C___8153182_10 |
|
|
|
|
|
19 |
34128990 |
0.22 |
0.26 |
0.06 |
0.08 |
hCV8153182 |
CATCTCTGACAGCAGACACCCTGCCCAGGATTAAGGACCA[T/G]AAGTGCATATATATATAATGGATAGATAGATAAATCAATA |
C |
C |
C___8153181_10 |
|
|
|
|
|
19 |
34129147 |
0.22 |
0.09 |
0.03 |
0.08 |
hCV8153181 |
AGTTTTACTCACCTGCTATTGTAATGCATACACTAGCACC[G/A]TCTATTTCAGCGTTGGATGAGGTCTTTCTCCAGTGCTGAC |
T |
T |
C___8153109_10 |
|
|
|
|
|
19 |
34149925 |
0.22 |
0.29 |
0.06 |
0.09 |
hCV8153109 |
AGAGGTGGCAGCAATAGGCTCCGAGTTGTGAAAACATAGT[T/G]GAAATTCCAGGCCCACAAGATTAAGTGTCAACAATAGCTG |
C |
C |
C__11494075_10 |
|
|
|
|
|
19 |
34181683 |
0.36 |
0.07 |
0.28 |
0.19 |
hCV11494075 |
TAAACATGTGACAGTTTTTATTAATTGCAAGGAATTTATA[C/T]TTCAAGGTAGAATAAACCATCGACCCAATAGTAATGGGCC |
G |
G |
C__11524237_10 |
|
|
|
|
|
19 |
34193380 |
0.27 |
0.37 |
0.39 |
0.33 |
hCV11524237 |
TATTGTCAGAAGAATGAAATCAACTGATTCCTAAGTAGGT[A/G]GCACCACTCACAGCACTTAGGAAACCCCAGAAAGGGAAAG |
T |
T |
C__11524236_10 |
|
|
|
|
|
19 |
34193626 |
0.26 |
0.43 |
0.39 |
0.33 |
hCV11524236 |
CTGCCACTGAAGGGAGACGCTTCAGGGCACCAGGAGTGTT[C/T]TGGGTTTGATGGAATGGTTTGAGACGTTGGTGGTGGCAGT |
G |
G |
C___9460256_10 |
rs874541 |
|
|
|
|
19 |
34230176 |
0.27 |
0.32 |
0.47 |
0.31 |
hCV9460256 |
GCTCTCTTGGGCTCCAGCTCTAGGCCCAGGAGTCCTCTGC[A/C]ACAATGACCATACTCTAAGCTTGAGCTAAAACACGTAAGA |
C |
C |
C____314203_10 |
rs1125039 |
|
ubiquinol-cytochrome
c reductase, Rieske iron-sulfur polypeptide 1 |
UQCRFS1 |
|
19 |
34402560 |
0.36 |
0.36 |
0.48 |
0.4 |
hCV314203 |
TTGTGATGTGCTTGGGATTTAATTTGTATTTCAAGGTACT[T/A]ATGAAGGTAGCACCCATTTTCCCAAAGGCCTTTTCATCCC |
A |
A |
C___1093635_10 |
rs759631 |
|
|
|
|
19 |
34472361 |
0.45 |
0.19 |
0.19 |
0.26 |
hCV1093635 |
CCAAGGCACTGAAACCTCATACATTCTAGTCAGTCCCAAA[C/T]GAGCAAGAACCTTCAGCCCAGGTGAGTTTGTGTCTCGGTG |
C |
C |
C___2680262_10 |
rs929691 |
|
|
|
|
19 |
34509882 |
0.36 |
0.24 |
0.49 |
0.49 |
hCV2680262 |
CCAGCTCTTTGCATCTGGAGCTCACAACTCTGTTTACCAC[A/C]GACACGCACTGTGCACCTACTGAATGTACGTGCTGTACAC |
A |
C |
C___8437150_10 |
|
|
|
|
|
19 |
34587686 |
0.05 |
0.06 |
0.1 |
0.04 |
hCV8437150 |
GGGCGGTGCCGGGAGGCTGCTGTCTGTGCCACAGAGGTCA[C/T]TAAGAGGCTCCCTGCTGTGTGACAGTGGCCCCAGATCATT |
T |
T |
C___1474706_10 |
|
|
|
|
|
19 |
34591515 |
0.16 |
0.06 |
0.09 |
0.1 |
hCV1474706 |
GGGAGATGTGAAGGCATCTCCCTGGGCTGGAGCTGAATGA[A/G]GATAATTCCCCTCCCTTTGTTCTGCAAGGAGTGGAGTCCC |
A |
A |
C___8792821_10 |
rs892076 |
|
|
|
|
19 |
34604369 |
0.19 |
0.39 |
0.29 |
0.45 |
hCV8792821 |
CTAGAGCTGCCCCCACCTTGCCTTTATTGTTTAAATCACC[A/G]CTTTATGAATCATCGATTTCTGATTCTTCCAGCTACCTGT |
A |
A |
C___8436865_10 |
rs1529719 |
|
|
|
|
19 |
34616654 |
0.26 |
0.12 |
0.23 |
0.1 |
hCV8436865 |
CAGCCTCTTTCTCCTTCTCCAGGGTCAGGGCCACTGCCCT[C/G]AGTGTGGACCTGCTCTTGTCCTTGCAGCTCAGCCCTTGTA |
C |
C |
C___8792816_10 |
rs881272 |
|
|
|
|
19 |
34619105 |
0.41 |
0.49 |
0.28 |
0.45 |
hCV8792816 |
ATTGTCAAGCAGAAACGAGAAGAAGATAGCACAACGAGAG[A/G]CAGTCACGACACACGCAAAAACATGGAGATGGGATACGGC |
G |
G |
C__11493508_10 |
|
|
|
|
|
19 |
34633082 |
0.25 |
0.33 |
0.31 |
0.16 |
hCV11493508 |
TAAAATAAGGCCCAGCACTGCCTTCCCTCCATGAACACAG[G/T]CTGGGTCCCCCAGTTGAGAGTCTACCATAATCAATCTGTC |
T |
T |
C__11493498_10 |
|
|
|
|
|
19 |
34634203 |
0.46 |
0.48 |
0.46 |
0.48 |
hCV11493498 |
TGTAGATATAGAAAAAGACTGACCCACTCAGGATTGGGTT[G/A]TATGTTTCTGTTTGGAGGCATCCCTGCTTCAAACTCATGC |
A |
G |
C__11491050_10 |
rs2116878 |
|
|
|
|
19 |
34660197 |
0.23 |
0.07 |
0.1 |
0.1 |
hCV11491050 |
ATGCATCCCTGGAACCTGAACACGGGCAGAAGATTGCACA[A/G]CCTCCCTGGACCCTTACTGGAGCAGGCTGTCCGCGGTCCT |
A |
A |
C__11491059_10 |
rs1865064 |
|
|
|
|
19 |
34661429 |
0.28 |
0.08 |
0.13 |
0.15 |
hCV11491059 |
GCTCGCCAGGACTGTAGCCAAAAAACAAGAGTCCCATACG[G/T]GCACTAGAGGGTCCAAAGAGAGCGCAGTCGGCGGGACACC |
G |
G |
C__11491063_10 |
|
|
|
|
|
19 |
34662778 |
0.28 |
0.32 |
0.09 |
0.1 |
hCV11491063 |
CACTAACCCAGCTCTGCAGTCTTGGCAAAGTCCTGGGAGA[A/G]TGAACAGAGTCCCCCATGCTCAGCAGCCAGGAGTTGGCAG |
A |
A |
C__11491090_10 |
|
|
|
|
|
19 |
34672649 |
0.27 |
0.49 |
0.43 |
0.45 |
hCV11491090 |
CATCACTTCATTCTCTCTGATGGCAGTGATTTTGTTCAGT[A/G]TGCCCCACTTTCCACAATTTTCTAAGATCTTCCATATATT |
G |
G |
C___8153039_10 |
|
|
|
|
|
19 |
34701197 |
0.29 |
0.24 |
0.43 |
0.37 |
hCV8153039 |
GGCCAGATGGATCTCAGCAGATCGATCTGTTGGAGATAAA[C/A]TCTGCTATTTCCCCGTGCGCTTCCTTCACCTTAATGGCAA |
T |
T |
C___8152943_10 |
|
|
|
|
|
19 |
34712027 |
0.3 |
0.43 |
0.43 |
0.47 |
hCV8152943 |
GCCACCCTGTCACCGGACCCCGCCCTTTACAGCTAACACT[G/C]TGCTTTCTTAAGAAGGCAAGCAACGCTGAGGCTGCTGCCT |
C |
C |
C___8152941_10 |
|
|
|
|
|
19 |
34716570 |
|
|
0.43 |
0.47 |
hCV8152941 |
GCAAAGCAGCTGGCTTGCTGCCTCTCAGGGCGCTCAGCAG[G/T]ACCTGGTGCCAGCAGCTGAGCTCGGGGCACTGGCTGGTGA |
A |
A |
C___8152881_10 |
rs1368457 |
|
|
|
|
19 |
34718963 |
0.32 |
0.36 |
0.45 |
0.45 |
hCV8152881 |
GACTGCTTTGTCCTGGAATTACCTGGGTGCCCTGGCTCCT[C/T]TAAGTTTGGGTCCACACTGCCATCTCTGGTTCCCCCTTAT |
A |
A |
C___8152824_10 |
rs892071 |
|
|
|
|
19 |
34728921 |
0.4 |
0.42 |
0.42 |
0.39 |
hCV8152824 |
ATTCAGGCCTTTGCTCAGTCTGTTCCCTTTGCTAGATTCC[C/T]TTCCTGTTCCTCTCTGGCTCTTTCAAGCTCACCCATCTTC |
A |
G |
C___8152800_10 |
rs1160217 |
|
|
|
|
19 |
34730728 |
0.27 |
0.49 |
0.28 |
0.31 |
hCV8152800 |
ACTCCATCCTTCAGACGCACCTGGACACTCTCCCTGAGAA[A/G]CAGAACCTTTGATGACTGCCCTCTGCCCACAGGAGAAAGA |
C |
C |
C___8152657_10 |
|
|
|
|
|
19 |
34745907 |
0.4 |
0.24 |
0.19 |
0.33 |
hCV8152657 |
CATTTCTGGCCCTGCTTGTCCTCTTCCTCCATGAAGGCTA[G/C]ACGATCCCACACAATTCTGTCCCTTGTGCATCCCGGCATC |
C |
C |
C__15878759_10 |
rs2288477 |
|
POP4
(processing of precursor , S. cerevisiae) homolog |
POP4 |
Intron |
19 |
34794696 |
|
|
0.41 |
0.35 |
hCV15878759 |
|
#N/A |
#N/A |
C___2942037_10 |
rs7283 |
|
POP4
(processing of precursor , S. cerevisiae) homolog |
POP4 |
UTR
3 |
19 |
34798499 |
0.5 |
0.49 |
0.3 |
0.16 |
hCV2942037 |
TACCTCCTTTATTTGATCCCTGTTTATGTCCACATATGTA[T/C]TGTATTATCACAGATGCAACTGATTTATCATAGAGCACTC |
A |
A |
C____105518_10 |
|
|
POP4
(processing of precursor , S. cerevisiae) homolog |
POP4 |
|
19 |
34804837 |
0.08 |
0.4 |
0.33 |
0.31 |
hCV105518 |
CACGGGCTCATCTGGCCCAGACAGGGGTCACTGACCAGCA[C/T]CACTTGCAGTTGCTGTGTGCCAACCCTTATTCAACATTAT |
A |
A |
C___2828839_10 |
rs1864223 |
|
pleckstrin
homology domain containing, family F (with FYVE domain) member
1|apoptosis-inducing protein D |
PLEKHF1|APPD |
Intron |
19 |
34856458 |
|
|
0.4 |
0.28 |
hCV2828839 |
CAACTGACTAACCCACCATGCCAGGCAGCCCACTGACTAC[G/C]CACAGTAACCCGCAGGCCTGCCCAGCACTGAGAAGCATCA |
G |
G |
C___2828837_1_ |
rs3745171 |
|
pleckstrin
homology domain containing, family F (with FYVE domain) member
1|apoptosis-inducing protein D |
PLEKHF1|APPD |
|
19 |
34858612 |
0.2 |
0.4 |
0.4 |
0.28 |
hCV2828837 |
CAGGCGTTGGGAGGCTGACCTCGAGCCCCAGGCCCAATGC[A/T]CACTCACTCTGAGAAAGGCTGGTGTACCTGGGGCCCAGTT |
A |
A |
C___2828828_10 |
|
|
pleckstrin
homology domain containing, family F (with FYVE domain) member
1|apoptosis-inducing protein D |
PLEKHF1|APPD |
|
19 |
34865378 |
0.07 |
0.03 |
0.16 |
0.12 |
hCV2828828 |
ATGAATGTGCCGGGTTTCAAGGTGCAGAAACAGCATGAAC[G/A]CAGAATAGAGGGGGCTTGGGGAGCCTGTGGCCTGCCACGG |
T |
T |
C___9610439_10 |
rs1406 |
|
cyclin
E1 |
CCNE1 |
UTR
3 |
19 |
35006952 |
0.15 |
0.32 |
0.47 |
0.34 |
hCV9610439 |
TCAAAGGCATTGTACACTGTCAACTGATAATGTGGAGAGG[T/G]CAGCCCCCTGCCCAGCTGGCTATGGGCTCTGCACAACGCT |
A |
A |
C___2591549_10 |
rs758326 |
|
|
|
|
19 |
35417874 |
0.23 |
0.09 |
0.38 |
0.28 |
hCV2591549 |
AAAAGAACTAAGCAAGATAATGCACCCGGGGTGTGTAATG[C/T]AGTGCCTGGCATGGGGTCACCACCCAATAGTGGCCACTGC |
A |
A |
C___9610306_10 |
rs1019937 |
|
|
|
|
19 |
35528088 |
0.44 |
0.26 |
0.17 |
0.23 |
hCV9610306 |
TCTTGCCCATCTATGTACATAAAACAGAGACATAGCTGGT[C/T]CAAAGAGGAAAATGCTCAGCTCTGTCAAACCTGGAGTCTT |
A |
A |
C___9044063_10 |
|
|
zinc
finger protein 536|KIAA0390 gene product |
ZNF536|KIAA0390 |
|
19 |
35549924 |
0.37 |
0.23 |
0.21 |
0.14 |
hCV9044063 |
GCACGGAACGTCCCAAGCACCCCAGCAGAAGGGATGTGGC[A/G]GAGGGTCTTTCAGAGGTGAGAGGTCAGACTTTCTTCCATG |
T |
T |
C___2781296_10 |
rs33442 |
|
zinc
finger protein 536|KIAA0390 gene product |
ZNF536|KIAA0390 |
Intron |
19 |
35640082 |
|
|
0.35 |
0.39 |
hCV2781296 |
CTCCCAGCCAGGGAAAGAACAGCAGCCAGCCACAGTGGCT[G/A]AAAGAGACTTGTCTGCTTCCTCCAGGAAGTCACCAGGATT |
C |
C |
C___2781289_10 |
rs720805 |
|
zinc
finger protein 536|KIAA0390 gene product |
ZNF536|KIAA0390 |
Intron |
19 |
35644415 |
|
|
0.2 |
0.28 |
hCV2781289 |
GGAGAGCCGGGCAGCCCAAGTCAGGCTGTGCTGGCCTGTC[T/C]GCCAGCCCATGCTCCTGTGGCCTCAGAGGGCCTCTTCCCC |
G |
G |
C___2781286_10 |
|
|
zinc
finger protein 536|KIAA0390 gene product |
ZNF536|KIAA0390 |
Intron |
19 |
35647737 |
0.31 |
0.32 |
0.48 |
0.43 |
hCV2781286 |
TCTGTTGCCTGGGCTGACATCACTGCTCTCTCATCAACCC[T/C]GACGGCCCCAGTTCTCATCAGGCAGTCCCTGTTCTCCAGA |
G |
G |
C__11459437_10 |
rs1978720 |
|
zinc
finger protein 536|KIAA0390 gene product |
ZNF536|KIAA0390 |
Intron |
19 |
35660211 |
|
|
0.06 |
0.09 |
hCV11459437 |
AGAAACCTCAAGCATATTTTTTTCATGTCTTGGGAGGTTG[T/C]TGTTTCATAAAATGCATGCATGTCATACGACTCCGCAGAA |
A |
A |
C___2781265_10 |
rs2053079 |
|
zinc
finger protein 536|KIAA0390 gene product |
ZNF536|KIAA0390 |
Intron |
19 |
35679263 |
|
|
0.19 |
0.2 |
hCV2781265 |
TGCAGACCTACTTTGTGCAGTTCCCTCTGCTGATACTCAT[T/C]AAATCTCAGCTCACTGCTCAGTGCTCTGGCATGGGACAGG |
G |
G |
C___2781216_10 |
rs3786792 |
|
zinc
finger protein 536|KIAA0390 gene product |
ZNF536|KIAA0390 |
Intron |
19 |
35718383 |
0.09 |
0.17 |
0.3 |
0.26 |
hCV2781216 |
ACTGAGGGACACACAGAACTCCCTGTTGCCAGCCAGTCCT[C/T]GTCCAGTATGACGCCAAAACATGAGAAATGGCCAGAGGGG |
A |
A |
C___9610248_1_ |
rs1469705 |
IMS-JST002980 |
zinc
finger protein 536|KIAA0390 gene product |
ZNF536|KIAA0390 |
Mis-sense
Mutation |
19 |
35730835 |
0.29 |
0.47 |
0.32 |
0.29 |
hCV9610248 |
TGTCTGGCCTGATGAACAGAGAAGCTTTGCTTGACATCTC[A/G]TCCTTGTGGTCTTGATTTGGGGGTTGCCCAGACAGCGGCC |
C |
C |
C___2781193_10 |
rs892173 |
|
zinc
finger protein 536|KIAA0390 gene product |
ZNF536|KIAA0390 |
|
19 |
35749062 |
|
|
0.48 |
0.36 |
hCV2781193 |
AGTTCGGAGGACCAGATCCTGCTGCTGGGATAAAGGGAGC[C/T]GTTCCTTGGGCATGGAGATATTTTGGGGAAACAGTCATCT |
A |
G |
C___2680224_10 |
rs929690 |
|
|
|
|
19 |
35922510 |
0.27 |
0.18 |
0.21 |
0.45 |
hCV2680224 |
AGCAGGACACCCACTTGTCCACACTCTGTAGCCATTAGCG[T/C]CAGTTATCCAGCATACTCAGATTTAATGAAAGGCTTTGTT |
A |
A |
C___1488500_10 |
rs1549952 |
|
|
|
|
19 |
35984344 |
0.43 |
0.24 |
0.18 |
0.2 |
hCV1488500 |
GTTTGTTCCAGTGAAAAGGGGTCAGCCTCCCTCAGCAGTT[C/G]CCTTGACAGGGGCCCACCATTCTCCCCTGGTTAAGCCAGG |
C |
C |
C____795146_10 |
rs755718 |
|
|
|
|
19 |
36184657 |
0.02 |
0.12 |
0.07 |
0.09 |
hCV795146 |
CAATGGCTATTGTCTGCGAATGGCTCCATCACCCTTCCCA[T/C]CATCTACCTGCATTTTCAAAATAAACAGCCCTCCAAAGCC |
A |
A |
C___1664476_20 |
rs3745786 |
|
|
|
|
19 |
36333912 |
0.27 |
0.23 |
0.48 |
0.45 |
hCV1664476 |
TTTCCCGTCACTTACACTGCCATGCACTCCAAGCAGGCCC[T/C]GTCCGCCTGCCTCCTCTCTTTTCTCCTCTTCGTCAAAACT |
G |
G |
C___2712343_1_ |
rs2279705 |
IMS-JST027545 |
|
|
|
19 |
36350972 |
0.3 |
0.29 |
0.44 |
0.47 |
hCV2712343 |
GTGCGTACGCGTATTCATATCTAGCCTGTATTATCAACCA[C/T]GCAAGATCACATCTTGGATAATAACAGCAACAATGGCATG |
A |
A |
C___2712389_1_ |
rs3745785 |
|
|
|
|
19 |
36390581 |
0.29 |
0.44 |
0.43 |
0.43 |
hCV2712389 |
TGCTTTATACACACATTAATCAGGTATCATTCAAAGGGAT[T/A]CTTTTCTCCACCACTGCACTAAACTACTGTTTAGCATGAA |
A |
A |
C___2712448_10 |
|
|
zinc
finger protein 537|KIAA1474 protein |
ZNF537|KIAA1474 |
Silent
Mutation |
19 |
36461603 |
|
|
0.45 |
0.43 |
hCV2712448 |
ACTACCAAAAAGTGCCTCTGAAGGAACCCGTCACTCCTGT[C/T]GCCGCCAAAATCATCCCTGCCACTCGGAAGAAAGCTTCCC |
G |
G |
C__11716051_10 |
|
|
zinc
finger protein 537|KIAA1474 protein |
ZNF537|KIAA1474 |
|
19 |
36479800 |
0.4 |
0.17 |
0.14 |
0.23 |
hCV11716051 |
GTGGTTAGGGGTGCTATGCCCCCTGGATGCTTTGGGTATT[G/T]CCCAACACCCTTCCAGCCTCCCACCTCCCGCTCCCACTGA |
A |
A |
C___2712483_10 |
|
|
zinc
finger protein 537|KIAA1474 protein |
ZNF537|KIAA1474 |
|
19 |
36501695 |
0.31 |
0.33 |
0.37 |
0.45 |
hCV2712483 |
TTTTAGCCATGGCACCAGGGTGGTAGGATTGTCTGGGCCA[G/T]GGGAGGAGCCCATGAGGAGGCACCAGAGCTGCTATAAAGC |
C |
A |
C___2712493_10 |
|
|
zinc
finger protein 537|KIAA1474 protein |
ZNF537|KIAA1474 |
|
19 |
36517753 |
0.48 |
0.4 |
0.06 |
0.02 |
hCV2712493 |
TTCACGCAGGTCATTTTTCCTGGAGCCCTGGTCAGGATCT[C/T]GTGTTTCTTGCTCCCCCAGGTAACCCCTGGCAGCTTTTTG |
A |
A |
C___2712498_1_ |
|
|
zinc
finger protein 537|KIAA1474 protein |
ZNF537|KIAA1474 |
|
19 |
36521743 |
0.36 |
0.14 |
0.44 |
0.43 |
hCV2712498 |
GGGTACCATTTATCATTTTGAATATTATTTAGACTTGCCG[G/T]GTAAACCTGTAACTTGAGAGTCGGACAAGCTGGGGCAGGG |
A |
C |
C___2712507_10 |
|
|
zinc
finger protein 537|KIAA1474 protein |
ZNF537|KIAA1474 |
|
19 |
36530218 |
|
|
0.24 |
0.29 |
hCV2712507 |
AGTTGAGTAGTAGGAATGTCTTGGGCTTCTTCCAGTCTTT[G/A]AAATTTTTTTTTTCTTTCCTTTTTGGATACACATTTTAAG |
T |
T |
C___7612006_10 |
|
|
|
|
|
19 |
36564110 |
0.39 |
0.11 |
0.4 |
0.31 |
hCV7612006 |
AAGTGATGTTTCAGCTACTCCAGCCTGCTTAGTGTCTCTC[C/T]TCACAAGTTCATGCTCCGCCTTTGCTGAACTGAGTCAGCT |
G |
G |
C___7611904_10 |
rs918585 |
|
|
|
|
19 |
36683977 |
0.49 |
0.32 |
0.23 |
0.11 |
hCV7611904 |
ATACTGCCTTTGATTTTCATGCTAGCAAAACCCTGGCTTG[T/C]CCCACAGCACCAACACATGGCTGAGGGAGAGCAGAAAGAG |
G |
G |
C___8587712_10 |
rs511811 |
|
|
|
|
19 |
37006270 |
0.1 |
0.4 |
0.3 |
0.37 |
hCV8587712 |
TTAGATTTCTTAATATACTTGTATTAGCATGAATAAGTAA[T/G]GAGCATGCCAGGCTTTTTTGAATATTTGATTGTATCTTTG |
A |
A |
C___2779704_1_ |
rs2075413 |
|
|
|
|
19 |
37168613 |
|
|
0.35 |
0.47 |
hCV2779704 |
ACAACAACAGGGTTTATGGGATTAATGTGACTCCCTGGTG[T/C]ACTCACTCCCAGGGGTGTGGTCCAGGGATATCCTTGAGTC |
A |
A |
C___2779727_1_ |
rs2075415 |
|
|
|
|
19 |
37173086 |
|
|
0.35 |
0.49 |
hCV2779727 |
CAAAGTGCCCATTAATTCTTCTGATCTCCTAGCGAAATAG[A/G]TGGCAGGAAAACCAATGTCAAGTCCACGGAGGCAGTGAGG |
T |
C |
C___2779728_1_ |
rs2075416 |
|
|
|
|
19 |
37173138 |
|
|
0.35 |
0.48 |
hCV2779728 |
GCTTGCCACAGAGAATGCAGTTAACTCCAATAATCTTTAG[A/G]CTCATGGATGACAAAGTGCCCATTAATTCTTCTGATCTCC |
C |
T |
C___2779729_1_ |
rs2075417 |
|
|
|
|
19 |
37173184 |
|
|
0.35 |
0.49 |
hCV2779729 |
ACTGAGTCCAGAAAGCTGCAGGAACACGGCAAGGAGCCAG[C/T]GTGTTGCTTGCCACAGAGAATGCAGTTAACTCCAATAATC |
A |
G |
C___2590202_1_ |
rs2240660 |
IMS-JST012292 |
|
|
|
19 |
37227047 |
0.38 |
0.44 |
0.49 |
0.49 |
hCV2590202 |
AACCCTACCAGAAGAGCAGGAAGGGTAGTAACCAAGGGAG[A/G]AAGAACAGGCACAGTTAGTGCATCCTTGGAGGCTCACATA |
C |
C |
C___2680395_10 |
|
|
zinc
finger protein 507|KIAA1084 protein |
ZNF507|KIAA1084 |
|
19 |
37521146 |
0.35 |
0.29 |
0.47 |
0.34 |
hCV2680395 |
GGCCACCTGCAGGGACATCCCTAGGACCAGGTAATGGGAA[A/G]GCAGAATCTGAGCTACCTAAGTTCAAGAATGGGTCACCTT |
T |
T |
C___2680397_10 |
|
|
zinc
finger protein 507|KIAA1084 protein |
ZNF507|KIAA1084 |
|
19 |
37521314 |
0.16 |
0.02 |
0.13 |
0.18 |
hCV2680397 |
GGCCAGAAGGCAGGAAGGCCCAGTAGAAATCTGTCGCCAG[G/A]TATAAGTGGTGCATCCAGAATTAGGCATGAGTGGAGCTGT |
T |
T |
C___2680414_10 |
rs741444 |
|
zinc
finger protein 507|KIAA1084 protein |
ZNF507|KIAA1084 |
|
19 |
37527764 |
0.09 |
0.01 |
0.16 |
0.19 |
hCV2680414 |
CCCTCCGAGGGCACGATGGTGTTTGTCATTCGGATCTGTT[T/C]TATGAAAGATACTAGGGTGGTTCTCCTGCTAACAGTGAAA |
G |
G |
C___8585857_1_ |
rs1558868 |
IMS-JST038111 |
zinc
finger protein 507|KIAA1084 protein |
ZNF507|KIAA1084 |
Intron |
19 |
37533745 |
0.49 |
0.21 |
0.24 |
0.07 |
hCV8585857 |
TTAGATCTCTACGCTCAGCTGTAAGTCATTAAAGAGGAGA[C/T]CAATGGGGGAACAATTTGTTTCCTTAGAAAAACCCTTTTG |
A |
A |
C___2680430_1_ |
rs2075303 |
IMS-JST002785 |
zinc
finger protein 507|KIAA1084 protein |
ZNF507|KIAA1084 |
Intron |
19 |
37539168 |
0.18 |
0.41 |
0.47 |
0.39 |
hCV2680430 |
GACAATTTATAGAAAGAAGTACATTAGCAAATCATAATCA[C/T]ATTCAACGGACAGTTCCTCTTCATATTCTCTGAAAGGAAG |
A |
G |
C___2680433_10 |
rs2041974 |
|
zinc
finger protein 507|KIAA1084 protein |
ZNF507|KIAA1084 |
|
19 |
37542986 |
0.09 |
0.01 |
0.13 |
0.17 |
hCV2680433 |
GGTTGGGATGATTCCTGCATAACCATGTACAATATTCTAA[A/G]TCATAATGAACTTGCTTCTGGCTATGTAGGAGCTAAATTA |
C |
C |
C___2680444_10 |
|
|
zinc
finger protein 507|KIAA1084 protein |
ZNF507|KIAA1084 |
|
19 |
37551354 |
|
|
0.43 |
0.42 |
hCV2680444 |
TCCTTCACTATTTTCCTTAAACAAATTGAAGCTTTCTAAA[C/G]ACTTAAGTTTTTCCCTAAGCCAACACATTGACTAAAGAAT |
G |
C |
C___2680454_1_ |
rs2270399 |
IMS-JST024885 |
zinc
finger protein 507|KIAA1084 protein |
ZNF507|KIAA1084 |
|
19 |
37565538 |
0.09 |
0.01 |
0.12 |
0.18 |
hCV2680454 |
GAGTCTGGGACATCAGTTCTGAAGATGACACTGCATTTTC[C/T]GAACTTCCAGTGACGGGATCTGCACTCTCTTCACTGCTCT |
A |
A |
C_____16400_10 |
rs718385 |
|
zinc
finger protein 507|KIAA1084 protein |
ZNF507|KIAA1084 |
|
19 |
37571190 |
|
|
0.06 |
0.07 |
hCV16400 |
CACCTCCTCCCTACCTTTGAAGCTGGCTTTGGAGTTGCAC[C/A]TGCTATTCATTATAAAGAGGTGCATTTAAGACTCTTTTCT |
G |
G |
C___2680475_10 |
rs741441 |
|
hypothetical
protein MGC35440 |
MGC35440 |
Intron |
19 |
37590914 |
0.46 |
0.19 |
0.22 |
0.08 |
hCV2680475 |
CAATAAACAGGCCATCAACGTCAGTGCCTTCTCCCCAACA[T/C]ACCCCGTGCTCATCCATGCTGAAATGCCTTTACTTATGCC |
A |
A |
C__11720644_10 |
|
|
hypothetical
protein MGC35440 |
MGC35440 |
|
19 |
37605874 |
0.08 |
0.17 |
0.47 |
0.42 |
hCV11720644 |
ACTAATTTTTAGTTTTAGTCCTATAGTTAAATAAATTTGA[G/A]CCCCACTGAGCATCTTTCTGTCATTGTTTTTCCATGTATC |
T |
C |
C___2680507_10 |
|
|
hypothetical
protein MGC35440 |
MGC35440 |
|
19 |
37621909 |
0.36 |
0.49 |
0.32 |
0.35 |
hCV2680507 |
AATATGTAATTGCTGCTATCTGAATTGCAAAGAATGGCAG[C/T]GCCCAGTTCTCCCTCAGTGGGATGGTAAACTCAACTCTTG |
G |
G |
C___7611225_10 |
rs1468496 |
|
hypothetical
protein MGC35440 |
MGC35440 |
|
19 |
37644294 |
0.17 |
0.03 |
0.1 |
0.18 |
hCV7611225 |
TTTACTTAAAAGTAAATATTACAACCCAAACACTGGTTTC[C/T]ATATTGGTACAAAAAGGATACTCCAAATAAGAATATCCAT |
G |
G |
C___2586641_10 |
|
|
hypothetical
protein MGC35440 |
MGC35440 |
|
19 |
37648786 |
|
|
0.47 |
0.42 |
hCV2586641 |
CGGGCAGTATGAAAGATGGTTATTGTTCGGTACATCTTCA[A/G]TGGTGAGAAAAACATTCATGAGCTTTATCTTTTCTGTGAG |
T |
C |
C__11720580_10 |
|
|
|
|
|
19 |
37673006 |
0.16 |
0.03 |
0.1 |
0.19 |
hCV11720580 |
TATAGTCTCTCCAGAGTCTCAGCTGAATGCCTGGGAGATT[C/G]ACCGTGGTCTCTCAGCCCCAGCTGGACCCAAATTCCAGTG |
C |
C |
C___2882501_10 |
|
|
programmed
cell death 5 |
PDCD5 |
Intron |
19 |
37764549 |
0.06 |
0.4 |
0.38 |
0.48 |
hCV2882501 |
CCGGTCCCTTATCAGAAACGCCTCTCCGGGCGTGTGATCC[A/T]TCCAAGCTTCCCAGGCGGCCCCTCCCTGTCATCCCGGCGG |
A |
A |
C___2882512_10 |
rs752718 |
|
programmed
cell death 5|ankyrin repeat domain 27 (VPS9 domain)|hypothetical protein
DKFZp434L0718 |
PDCD5|ANKRD27|DKFZP434L0718 |
|
19 |
37778102 |
|
|
0.47 |
0.43 |
hCV2882512 |
AGTTGTTTTTTCCAATTGCTTTCCCTACCCAAAACTTGAT[A/G]TGACAGTTGAGAAATTAATGCCCCTAATTTCCATTTTTGT |
C |
T |
C___2882521_10 |
|
|
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
Intron |
19 |
37782193 |
|
|
0.2 |
0.31 |
hCV2882521 |
GAAAGTGTTACATGTGTGGGAAACCACAGGTCTTGGTGCT[T/C]ATAGGAGATGAAACATCCCACATTTCACTATGGTTTTAAT |
A |
A |
C___2882533_10 |
|
|
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
Intron |
19 |
37790078 |
|
|
0.49 |
0.41 |
hCV2882533 |
GCAGGATCTGGCTCTTGAGCTCGTGTGGTGGCCACCGAGC[G/A]CTGTCCCCATGGTCATCTTACCACCTTTACACCCCGACAG |
T |
C |
C___7611111_10 |
rs380320 |
|
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
Intron |
19 |
37797744 |
0.32 |
0.15 |
0.45 |
0.45 |
hCV7611111 |
AGGGAAGCTGCACGCATGTTCTGCTGTTGCTTTTACTCAG[T/G]TGAGTTCACTCTTCATGGGGACTCTCCCTCCAAGTGCAGA |
A |
A |
C___2882582_10 |
rs402862 |
|
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
Intron |
19 |
37802942 |
0.24 |
0.13 |
0.34 |
0.24 |
hCV2882582 |
GGCAGGGACACAGCATAAGAACTACAGTAAAGCACAGTTT[C/G]TGAAGGGTTAGATCCCTGTTTCTGGCTTCAGGGGCCTCCG |
C |
C |
C___2882596_10 |
|
|
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
Intron |
19 |
37809682 |
|
|
0.34 |
0.22 |
hCV2882596 |
TAGCTGTAGTTCCTCTCTAGCAGAAAAAGTATCTACCGTG[T/G]GTTTCATGCCCAGGACTAGGAGGGTGCAATAGTGTTGTGG |
C |
C |
C___2404304_10 |
rs731672 |
|
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
Intron |
19 |
37824043 |
0.32 |
0.13 |
0.34 |
0.23 |
hCV2404304 |
TAGGTGATGGCTCTGGGCTCATCTTCATTTTTTATCACTG[C/A]AGCCACCTCCCTGGGCTCTTTCAGCGTCCAAGGGGGTGGC |
T |
T |
C___2882621_10 |
rs731673 |
|
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
Intron |
19 |
37824135 |
|
|
0.16 |
0.42 |
hCV2882621 |
AAGTGAAACTCCACATGGGCAGTGGACTCCATGTCTATAA[C/A]ATGGAAGTGACCTTAGGAAGGACCTTGGTGACTTTAGGAA |
G |
G |
C___3291040_10 |
|
|
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
Intron |
19 |
37832221 |
0.26 |
0.06 |
0.44 |
0.29 |
hCV3291040 |
GAAAGGGAGGTAGTGATGGTAAGCTGGACCCCAGCTGCTG[C/T]CTTGGAGGCCGGGAGGTGCCAAGCATCTCTCTCTGATCCC |
G |
A |
C___3291056_1_ |
rs259251 |
IMS-JST059470 |
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
Intron |
19 |
37841608 |
0.4 |
0.25 |
0.12 |
0.27 |
hCV3291056 |
GAGCCTCGGGGTTGTCCTGAGGCATGAATGGTTCCAGAGA[C/T]GTGGTAGACTAAGGCTCAGTTTGGAGGGAGTTTGTTATAA |
A |
A |
C__11720209_10 |
|
|
ankyrin
repeat domain 27 (VPS9 domain)|hypothetical protein DKFZp434L0718 |
ANKRD27|DKFZP434L0718 |
|
19 |
37862308 |
|
|
0.14 |
0.05 |
hCV11720209 |
TGAGCTGCTGGAATCTCTTGGTCCTCCTGAGGAATAGTGG[A/G]GGGTTGGGGGGAGAGTGAATCTTAAGTCTGGGTGTCCTGA |
T |
T |
C___3173781_10 |
|
|
|
|
|
19 |
37891593 |
0.37 |
0.43 |
0.33 |
0.5 |
hCV3173781 |
AAGGTGGTTCCGGTCCCTGCTGAAAGAAGAAAGACTCTGA[A/G]GGGTAAACTCATCACAGTAGATGGAGAATTTGGTGCCTGT |
C |
C |
C___3173790_10 |
|
|
|
|
|
19 |
37897684 |
0.08 |
0.2 |
0.24 |
0.15 |
hCV3173790 |
AACTGGTCATATTACTTTATCATGACATCTTCTAATATCA[C/G]CCACTGAGCCATGGCAACTCCAGTGAAGAGGGAGTTGACT |
C |
C |
C___3173796_10 |
|
|
|
|
|
19 |
37905039 |
0.48 |
0.2 |
0.18 |
0.09 |
hCV3173796 |
AGGGGTTCGCGAACAGGAGGCAGCAAGTCCAGCTCCTGCT[G/A]TCAAAGTTCTGCCGGGATGGTTGTGCATGTTTCAGGATGT |
T |
T |
C__11720161_10 |
|
|
|
|
|
19 |
37917014 |
0.49 |
0.21 |
0.19 |
0.1 |
hCV11720161 |
TAACTAGGCACAAAGCACTAAGTTGAAAACTGATCCACAC[G/A]ATTTCTCTTTCTTTGCAGTATGAACTGTATTATTTGCATT |
T |
T |
C___3173821_10 |
|
|
|
|
|
19 |
37932410 |
0.47 |
0.43 |
0.37 |
0.44 |
hCV3173821 |
AACCTCTGCTAACCACTTAAGAGTGCCCAAATGTCTTCCT[T/C]GGGCAGGACCAGGGGGAGCATGTTAGGAAAAGGCACTCCT |
A |
G |
C___3173843_10 |
|
|
|
|
|
19 |
37958920 |
0.15 |
0.36 |
0.22 |
0.15 |
hCV3173843 |
CACCAATGTCTCCAAGAGAAACTATCTGGCCAGAGGAATA[C/T]GGGGAAGGAGGCCCTAGAAATTGGTAACTGTGAGGGAAAT |
A |
A |
C___2885661_10 |
rs2112917 |
|
solute
carrier family 7 (cationic amino acid transporter, y+ system), member 9 |
SLC7A9 |
|
19 |
38009383 |
0.13 |
0.33 |
0.22 |
0.14 |
hCV2885661 |
CAAGAGAACAGCTGACAGTGAGCGCGTGAATATGACACAC[A/G]CAGGGTAAAGACCACCCGCTGAGTGCATCCCAACTCACCC |
T |
T |
C__11720128_1_ |
rs3746028 |
|
solute
carrier family 7 (cationic amino acid transporter, y+ system), member 9 |
SLC7A9 |
|
19 |
38009752 |
0.2 |
0.24 |
0.43 |
0.35 |
hCV11720128 |
ATATTTTCATTATTTTAGGTAAGAAATGAGCAGGTCAAAT[C/T]GGTCTGCTTACAAATAATTTATTCTTCTAGGAAGAATATC |
G |
A |
C___2885687_10 |
rs3815760 |
|
solute
carrier family 7 (cationic amino acid transporter, y+ system), member 9 |
SLC7A9 |
Intron |
19 |
38026255 |
0.45 |
0.21 |
0.17 |
0.09 |
hCV2885687 |
GTAGTTACTGACAGCTGCCTCTCATTATGCTCTAATGATT[G/A]AGAAGTCACCGGATCCTTGTGCAGTAAACGCCCTTTGACT |
T |
T |
C___2885706_1_ |
rs1007160 |
|
solute
carrier family 7 (cationic amino acid transporter, y+ system), member 9 |
SLC7A9 |
Silent
Mutation |
19 |
38044901 |
|
|
0.41 |
0.22 |
hCV2885706 |
TTCTTTCGAGGGCGCCCAGCTGTCTGTGGGAGCCATCAGC[A/C]TGGCGTTTTACAATGGACTCTGGGCCTATGATGGATGGTG |
T |
T |
C__16183231_10 |
rs2287877 |
|
solute
carrier family 7 (cationic amino acid transporter, y+ system), member 9 |
SLC7A9 |
Intron |
19 |
38052415 |
|
|
0.17 |
0.09 |
hCV16183231 |
GGCTCTGCAGGGTCACGGAGGAAGGTAAGTAAGGTCAGTA[G/C]GTGATAGAAAGGCTCATGGCTCTCCTGGCCGGGGCCTGGA |
#N/A |
#N/A |
C___2885731_1_ |
rs2161518 |
|
solute
carrier family 7 (cationic amino acid transporter, y+ system), member 9 |
SLC7A9 |
|
19 |
38052643 |
|
|
0.37 |
0.36 |
hCV2885731 |
AATGAACAAAACAAAAACGGTTTTGGAGAGAAATTGGTGT[G/T]CCTGACCCTCCCCTTTTTTGTGTGGCGTATCTAAGCTTCA |
A |
C |
C___2885749_10 |
|
|
solute
carrier family 7 (cationic amino acid transporter, y+ system), member 9 |
SLC7A9 |
|
19 |
38057270 |
0.36 |
0.44 |
0.18 |
0.09 |
hCV2885749 |
AGTATTTTATTAAAGAATAATTCTTTGAAAGTGAAGGGTC[C/T]GTGTGTAGTATATGTAGCATACCAGGGCTGGGTTGCAAGC |
G |
G |
C___2885761_10 |
|
|
hypothetical
protein FLJ14640 |
FLJ14640 |
|
19 |
38064441 |
0.49 |
0.42 |
0.2 |
0.09 |
hCV2885761 |
TTTCTACATTTTACTCTGATCTGAATGTAATATTGGTCTC[G/A]AGTTTTATTTGCTCCTCATCTTCTTTATTCTTTTAAAAAT |
C |
C |
C___2885763_10 |
|
|
hypothetical
protein FLJ14640 |
FLJ14640 |
|
19 |
38065474 |
|
|
0.17 |
0.09 |
hCV2885763 |
GTTTGGTGACAGAGAGTGACAGCCCTTGTTGGATTCTTCA[A/G]TGAGGCTGTCTTGTCAAGGTGAAACAGTGCTGACCAGTGG |
C |
C |
C___2022819_10 |
rs2016867 |
|
hypothetical
protein FLJ14640|rhophilin, Rho GTPase binding protein 2 |
FLJ14640|RHPN2 |
|
19 |
38102129 |
|
|
0.15 |
0.1 |
hCV2022819 |
GTTTCAAGTGGAAAATCGAGATTATTTACTGCTTTAGTAA[G/A]TAAACTTAACGCCCAGTGTACTTTGGGTGGTCAGCATTTC |
T |
T |
C___7610927_10 |
rs1036217 |
|
hypothetical
protein FLJ14640|rhophilin, Rho GTPase binding protein 2 |
FLJ14640|RHPN2 |
|
19 |
38102228 |
0.1 |
0.23 |
0.16 |
0.1 |
hCV7610927 |
GTGCCCAGGAGCCAGTGCACACCACTGTTGGGGCCACACC[G/A]TTGTTACAGCCTGACTCCTTTCATCTTGTCTCTCTCCTTC |
C |
C |
C___2022790_10 |
|
|
hypothetical
protein FLJ14640|rhophilin, Rho GTPase binding protein 2 |
FLJ14640|RHPN2 |
Intron |
19 |
38125395 |
0.11 |
0.05 |
0.16 |
0.4 |
hCV2022790 |
ACACAGGACACAAAGTAGATTCACAGAACCAAGTGAACTG[C/T]GTGTACATTAAATGTACATTAAATACAACATGAATTTGGG |
A |
A |
C____283658_10 |
rs1002590 |
|
hypothetical
protein FLJ14640|rhophilin, Rho GTPase binding protein 2 |
FLJ14640|RHPN2 |
Intron |
19 |
38135314 |
|
|
0.26 |
0.2 |
hCV283658 |
TTCACCATCATTATAATGTGTTATTCATAGTGTCTGTACA[A/T]ATAGACCAGCAGCATTAAGCTACACCGGTATTGATTATAT |
T |
T |
C__11492223_10 |
rs2216594 |
|
rhophilin,
Rho GTPase binding protein 2 |
RHPN2 |
Intron |
19 |
38225098 |
0.33 |
0.16 |
0.35 |
0.33 |
hCV11492223 |
GCCCCCGATTTTGGGACTCCCTGTCATGTGCTGGGAAGGC[C/T]GTGGTATGTTTTGTGGCCTAGGGTTCTGGTTGACCCTTGG |
G |
G |
C__11492226_10 |
|
|
rhophilin,
Rho GTPase binding protein 2 |
RHPN2 |
Intron |
19 |
38226481 |
0.2 |
0.26 |
0.44 |
0.44 |
hCV11492226 |
GGCACTCATTAGTATGCTCTCGTGGTAAAACAGTTACTTA[C/T]CCAGCATAGAACTCAGAGAAGCCTTACCTGTGTCTAGACC |
A |
G |
C___2882800_10 |
|
|
rhophilin,
Rho GTPase binding protein 2 |
RHPN2 |
Intron |
19 |
38237721 |
0.08 |
0.11 |
0.36 |
0.33 |
hCV2882800 |
GGTCTGCCCAGCTGCATGGTATCCACCATCAGCCCCGAGG[G/A]TCTGCCTGACCAACAGTCTTCAACTGTGGGATCCTGGCTG |
T |
T |
C___3188619_10 |
|
|
rhophilin,
Rho GTPase binding protein 2 |
RHPN2 |
|
19 |
38250431 |
0.21 |
0.26 |
0.5 |
0.45 |
hCV3188619 |
ATGAAGGTTATTGCTTTTATTTGCAGAAGGGTCTCAAGAA[T/C]GAAACATAGTATCTATAAACTCCCTGGCTAGAGTAGAGGC |
A |
A |
C___3188618_10 |
|
|
rhophilin,
Rho GTPase binding protein 2 |
RHPN2 |
|
19 |
38250545 |
0.23 |
0.26 |
0.49 |
0.48 |
hCV3188618 |
AGTTGGCAGAAAAAGATGGCAAAAATCCAAAGGTGGTAGG[G/C]AATGACCTCAGCCAGCAAGGGGAGTGCTGGTGGCCACTTC |
C |
C |
C___2882839_10 |
|
|
evolutionarily
conserved G-patch domain containing |
ECGP |
Intron |
19 |
38270310 |
0.32 |
0.12 |
0.34 |
0.32 |
hCV2882839 |
CTTGGCAAGGAGAGATACACTTCCATACCTCTTCTAGAAC[G/T]TCACACCATCCCTGAATCCGGCATTTTTCCTTTGGTATTG |
C |
C |
C___3188570_10 |
|
|
evolutionarily
conserved G-patch domain containing |
ECGP |
Intron |
19 |
38276331 |
0.1 |
0.4 |
0.17 |
0.11 |
hCV3188570 |
CTAAGAAGGCTTGTCTCACTTGCAATCAAACTATCCCTCA[G/A]CAAGAGAATCACACATATGCAAAACACCGGTGCTAAGATC |
T |
T |
C___2882880_1_ |
rs2287680 |
IMS-JST038650 |
evolutionarily
conserved G-patch domain containing |
ECGP |
Intron |
19 |
38300406 |
0.24 |
0.36 |
0.48 |
0.5 |
hCV2882880 |
CACACACCACCCAACTAAACAGTGATCACTCACATAGCTT[C/T]TATTTTTGTGGTGTTTCCGAGTCAACAACTGTACAATGTG |
A |
A |
C___2882888_10 |
rs1981818 |
|
evolutionarily
conserved G-patch domain containing |
ECGP |
Intron |
19 |
38306962 |
0.31 |
0.19 |
0.34 |
0.32 |
hCV2882888 |
TTCATAGGTCATTAATTTCTGGGTAACTAAATCAACAAAA[T/C]TTCACAATAGTAGAAGCAGTGAAAGGCATTAAATCAATTT |
A |
A |
C__11492379_1_ |
rs2241379 |
IMS-JST013235 |
hypothetical
protein LOC126248 |
LOC126248 |
|
19 |
38358579 |
0.16 |
0.05 |
0.22 |
0.14 |
hCV11492379 |
ATCAAACAGGATGAGCACCAAGACATAAAGCTTAGAAATA[G/T]CAAGACTGCTTTTCAGATGCACATGCACGCTTGTTTTCCA |
A |
A |
C___2884881_10 |
rs2081044 |
|
low
density lipoprotein receptor-related protein 3 |
LRP3 |
Intron |
19 |
38378864 |
0.25 |
0.33 |
0.49 |
0.45 |
hCV2884881 |
CTAGTGACGGAACCATCCTCTTCCCCCGTGCCAAGCTGAC[C/T]TTGAGGAGGAAAGCAGAACTCCCCAGCCACCCCTCAAGCA |
A |
G |
C___2884879_10 |
|
|
low
density lipoprotein receptor-related protein 3 |
LRP3 |
Intron |
19 |
38379980 |
0.26 |
0.31 |
0.49 |
0.45 |
hCV2884879 |
TGTCCAAATCTAGTAATTCCCAGGTGGCCCTGCATGGCGT[G/A]GCATGTCCCCTCCTTTCAAGAAAATTAATAAAGCCTTCTT |
C |
T |
C__25594815_10 |
rs3745974 |
|
low
density lipoprotein receptor-related protein 3|solute carrier family 7,
(neutral amino acid transporter, y+ system) member 10 |
LRP3|SLC7A10 |
Silent
Mutation |
19 |
38390131 |
0.06 |
0.28 |
0.44 |
0.38 |
hCV25594815 |
GCAGGGCTCCCGAGGTGCATCTGCAGGAGCTGGGCCGTCT[A/G]CCAGTGGCTCCCTGCAGACCTTTCTGTCCTTGTCCACGGG |
T |
C |
C___2884851_10 |
|
|
solute
carrier family 7, (neutral amino acid transporter, y+ system) member 10 |
SLC7A10 |
Intron |
19 |
38402478 |
0.28 |
0.47 |
0.36 |
0.39 |
hCV2884851 |
GGTGCTGCTTCAGGGAGACCAGTGAGCTGGGCAGAGGCCT[A/G]CCACAGTGAGGGACATGTTCCCTGAGCAGACTGTTTCCTT |
C |
C |
C___9054230_10 |
|
|
CCAAT/enhancer
binding protein (C/EBP), alpha |
CEBPA |
|
19 |
38472665 |
|
|
0.05 |
0.06 |
hCV9054230 |
AGCCAGGTCCCAGGTGATGCTGGTGTGCTGGGAAGCGAGG[A/G]ACAAAGCTCCTTTGGACCAATTCATATCAGTCAGCTAGTG |
C |
C |
C__11717826_10 |
|
|
CCAAT/enhancer
binding protein (C/EBP), alpha|hypothetical protein FLJ12355 |
CEBPA|FLJ12355 |
|
19 |
38477036 |
0.05 |
0.11 |
0.18 |
0.19 |
hCV11717826 |
ATAATCTTCCCTGCCTTCATGTGATTAGTTTATCACCAGA[G/A]TCAGAGGTCTGGCCAGGCCCCAGAGAGACAGTCATGCTCT |
C |
C |
C___9611046_10 |
rs1469084 |
|
CCAAT/enhancer
binding protein (C/EBP), gamma|peptidase D |
CEBPG|PEPD |
Intron |
19 |
38559853 |
0.46 |
0.36 |
0.43 |
0.47 |
hCV9611046 |
CCTGTTTCCGTATCCAAAGATACAGGAACAGGGAAGGGCT[T/C]TTTCACCTCTGCCTGACTCATCTTGCAAGGTACTAGGCTG |
G |
A |
C___1996577_10 |
|
|
CCAAT/enhancer
binding protein (C/EBP), gamma|peptidase D |
CEBPG|PEPD |
|
19 |
38569589 |
0.49 |
0.42 |
0.37 |
0.46 |
hCV1996577 |
GATGGCTCACCTGGTGTCAGTATCAAGTCAGTTCCAGGAA[G/A]ATGGTGCTGGCAGCACAGGCCCTCTAACGGCTGCTTCTGC |
T |
T |
C__11468761_1_ |
rs17570 |
|
CCAAT/enhancer
binding protein (C/EBP), gamma|peptidase D |
CEBPG|PEPD |
Mis-sense
Mutation |
19 |
38570677 |
|
|
0.19 |
0.17 |
hCV11468761 |
CCTGGATGAGGCCCTGGCGGACCCGGCCCGCGCCTCCTTC[C/T]TTAACCGCGAGGTCCTGCAGCGCTTTCGCGGTTTTGGCGG |
A |
A |
C___1996596_10 |
rs889140 |
|
peptidase
D |
PEPD |
Intron |
19 |
38580840 |
0.36 |
0.17 |
0.44 |
0.34 |
hCV1996596 |
CGGATTGACGCAGCATAGGGGCCAAGGCCTGGGGGGTGTT[C/T]GGTGGGAAAGCCATTGTCTTACCCCTCAGTCTCCTGTGCT |
A |
A |
C___1996603_10 |
|
|
peptidase
D |
PEPD |
Intron |
19 |
38584321 |
0.12 |
0.15 |
0.1 |
0.1 |
hCV1996603 |
TGCCACACTCCAGATGCTTAGTCCCTGAGATTCCAGTGGC[A/G]TCAGGTCTCCAGGGTCACTCCTAGGAAACAAGGCTGACCA |
T |
T |
C___1996620_10 |
|
|
peptidase
D |
PEPD |
Intron |
19 |
38597825 |
0.34 |
0.43 |
0.08 |
0.13 |
hCV1996620 |
CTGGGAGGGCGCCACAGAGGTGTGAAGTGGCTTCTGAGGC[T/C]GCCTGTCTGGCCTGGCGCACAGGGCTTGCCATGTGGGGCA |
G |
G |
C___1996628_10 |
rs1005731 |
|
peptidase
D |
PEPD |
Intron |
19 |
38600557 |
0.23 |
0.23 |
0.11 |
0.16 |
hCV1996628 |
GGGTGTCCGGGCCGTGGACCTATGCAGATTCTGTTTGGTT[T/G]TAAAGGAATAGTCAAGAGGCTGTTTCTCAAAGCCTGGCAC |
C |
C |
C___1996633_10 |
rs1005730 |
|
peptidase
D |
PEPD |
Intron |
19 |
38602379 |
0.43 |
0.45 |
0.34 |
0.24 |
hCV1996633 |
CCCTGCATCTTCTTCAGCCTTCACAGCAAGCCCCGAGGTC[A/G]GCACTGTTCCAGCCCCCACCTACTGACAGACCTGAGGTTT |
C |
C |
C___1996654_10 |
|
|
peptidase
D |
PEPD |
Intron |
19 |
38620934 |
|
|
0.37 |
0.4 |
hCV1996654 |
AGCAGGTGGCTCTCTTCTCTCTGTGCCCAGCTGAGGGTCC[A/G]TGCTAGAAACCCAGCACCCTGGGTCTGCCCTCTGAGATCC |
C |
C |
C___1996666_10 |
|
|
peptidase
D |
PEPD |
Intron |
19 |
38629117 |
0.39 |
0.35 |
0.11 |
0.22 |
hCV1996666 |
GGTGAGGATGCAGCCAGTGCGTCTCTCCCCAGTGTTGGCT[G/A]ATTCATAATAGGCTTTAAGCAGTCCATATATTTTCAGCAT |
T |
T |
C___1996553_10 |
|
|
peptidase
D |
PEPD |
Intron |
19 |
38645583 |
0.46 |
0.44 |
0.19 |
0.3 |
hCV1996553 |
AACAGGGCTTCAGGATCACAAGCAAAGATTATTTTTCTTC[T/C]GACTGCGCCCGCCTCCCTGGCTCTTGGCAGAGTGTTTGAT |
G |
G |
C___1996545_10 |
|
|
peptidase
D |
PEPD |
Intron |
19 |
38653390 |
0.47 |
0.46 |
0.19 |
0.28 |
hCV1996545 |
CTTTGATGACACATAGTTACTGTGTGTCTGTGCCGGTGCT[A/G]GGACCCTGTCTTCCAGGACTATATATGGCCTTTCAGAAGA |
T |
T |
C___3170589_10 |
rs3786920 |
|
peptidase
D |
PEPD |
Intron |
19 |
38686257 |
0.48 |
0.49 |
0.11 |
0.24 |
hCV3170589 |
TGAGCCAGCTGCACAATAAGCCCTGCGTCTGGGGCCTCCG[G/A]AGTCCAGGCGAGGCGCTCGTCATCAATTCGTGCCCCATAA |
C |
C |
C___2940268_10 |
rs1428669 |
|
|
|
|
19 |
38762105 |
0.34 |
0.29 |
0.23 |
0.17 |
hCV2940268 |
GCAAGTTGACTTGCTGCAGGAGGACTATCTGAATTTCGGA[C/T]GTAGTGACACTTGGCGTTCCACCCTCAATCACTCCTGGCT |
A |
A |
C___2940245_10 |
rs999354 |
|
|
|
|
19 |
38768796 |
0.28 |
0.24 |
0.37 |
0.26 |
hCV2940245 |
AGCCTATGGGTGGCACAACGAGGAAGGCAGGCAGATAGAG[A/T]GGAGTGGCCTGCTTTCTCTAAAAAAGAAGTATGCTCTAAG |
A |
A |
C___2940233_10 |
|
|
|
|
|
19 |
38782082 |
0.17 |
0.01 |
0.16 |
0.13 |
hCV2940233 |
CACCTCTCCTTTAATGATTCGTAAGGACTTAATGGGTCAC[A/C]CTTGTCTGGGTCCCACCTCCCTGTGGTCACCTCTACCTGA |
T |
T |
C___2940222_10 |
|
|
|
|
|
19 |
38786294 |
0.21 |
0.44 |
0.34 |
0.26 |
hCV2940222 |
ATGTTTAGGGACAGAGCAAGCAGGGCATGCCTGGGCCTAT[A/G]CCTCGCAGAGCCTCAGCCTGGCCCGCAGACCTGAAAACGT |
T |
T |
C___7613226_10 |
rs877093 |
|
carbohydrate
(N-acetylgalactosamine 4-0) sulfotransferase 8 |
CHST8 |
|
19 |
38800511 |
0.49 |
0.39 |
0.18 |
0.11 |
hCV7613226 |
AATTCCATGATTCCTAAAAGTTCCTCACCAGGGAACGTGG[C/T]CCAGACTCATTTCCAGCCAAGGTATCCCTTGGCCACCTTA |
A |
A |
C___2071474_10 |
rs752325 |
|
carbohydrate
(N-acetylgalactosamine 4-0) sulfotransferase 8 |
CHST8 |
|
19 |
38811072 |
0.49 |
0.42 |
0.18 |
0.13 |
hCV2071474 |
AGGATAAAGTCCCAAGTCCCTCCCTGGTTGTGAAGACCCT[A/G]CACAGATGGGTCTCCAGCCACATGTCACCTGCTTCTTCAC |
T |
T |
C___2071467_10 |
|
|
carbohydrate
(N-acetylgalactosamine 4-0) sulfotransferase 8 |
CHST8 |
|
19 |
38825549 |
0.42 |
0.44 |
0.2 |
0.26 |
hCV2071467 |
TTTTGATAAAATGAAAATGATTTACGAGTTTACGTATATA[A/G]AGCGATAGAGACGTAAGGTAGCCCCTTCTCTGGGACAATG |
T |
T |
C___2811636_10 |
rs4805924 |
|
carbohydrate
(N-acetylgalactosamine 4-0) sulfotransferase 8 |
CHST8 |
|
19 |
38860113 |
|
|
0.01 |
0.06 |
hCV2811636 |
TTCTTTCCCTAAGCCTGCAGCCTCTTTTCTACCATCCTGG[G/A]TTTCACATGCCCTCATCGCTCAACCTCAAGGACACAGGCA |
T |
T |
C___2677440_10 |
rs2041728 |
|
carbohydrate
(N-acetylgalactosamine 4-0) sulfotransferase 8 |
CHST8 |
Intron |
19 |
38881477 |
0.16 |
0.35 |
0.23 |
0.07 |
hCV2677440 |
GGAGGAGCTACAGGGAGACTCCACACACCCTGCCAAGCAT[T/C]TCAGACACCATAAGCCCCAAATGGAACCTGTGATCTCTTG |
A |
A |
C___1736791_10 |
rs108295 |
|
carbohydrate
(N-acetylgalactosamine 4-0) sulfotransferase 8 |
CHST8 |
Intron |
19 |
38916656 |
0.39 |
0.3 |
0.12 |
0.07 |
hCV1736791 |
CAGGGAGAGGAGGCTTGCCTCATAGATCACAGATCAACGA[C/T]GGAAGTTTGTAGAGCTCTCTGCAGCAGGCTGCAGTTATGA |
G |
G |
C___2592102_10 |
rs285694 |
|
carbohydrate
(N-acetylgalactosamine 4-0) sulfotransferase 8 |
CHST8 |
Intron |
19 |
38952829 |
0.5 |
0.33 |
0.37 |
0.22 |
hCV2592102 |
CCAGTTTTACAGACTCAGCCACTGCCATGCCCCAGACAAT[C/G]TAAGGCTGAGGCCGTGCCCGCACGTCTCCTTCAGTCATTA |
G |
G |
C___2843157_10 |
rs736239 |
|
potassium
channel tetramerisation domain containing 15|hypothetical protein MGC2628 |
KCTD15|MGC2628 |
Intron |
19 |
38982007 |
|
|
0.22 |
0.12 |
hCV2843157 |
AATTTGTGCCTTGAAATTCAATATCCAATTTTAATCCAAC[G/C]AGAATCAAATCCTGCAAATGTAAGCAAGGTTGCTCTCCCT |
C |
C |
C___2843154_1_ |
rs2303175 |
|
potassium
channel tetramerisation domain containing 15|hypothetical protein MGC2628 |
KCTD15|MGC2628 |
Intron |
19 |
38983143 |
0.21 |
0.09 |
0.21 |
0.09 |
hCV2843154 |
GCCCAGAGTATCTGCGGGAGGCATCGACAAAACCAGAGAA[G/A]GCTTATTCCTCCTAGTCATGTACCATGGGGTCAAAGACAC |
T |
T |
C___2843136_10 |
rs29942 |
|
potassium
channel tetramerisation domain containing 15|hypothetical protein MGC2628 |
KCTD15|MGC2628 |
|
19 |
39001117 |
|
|
0.24 |
0.26 |
hCV2843136 |
GAGATCCAGAAAGAGCAGAGACGCGCTCTTCTTTTCTGAC[T/C]TTCAACCTTCCCTGGGGTTGTGTTCCATTTGGGTCACCTT |
G |
G |
C___1989970_10 |
rs1017205 |
|
|
|
|
19 |
39057480 |
0.13 |
0.02 |
0.45 |
0.48 |
hCV1989970 |
TTATTGAGAATGATATTCATTAGTAGGCATTCAATGATAA[A/G]GACACAGCCTGATTTTAAAGATTTCCTTTTTTTTTTTTTT |
C |
C |
C___1135035_10 |
rs1260534 |
|
|
|
|
19 |
39292776 |
0.49 |
0.15 |
0.33 |
0.28 |
hCV1135035 |
AAAAAACTGGATGATCGTTTCACTTTTCTCTGTGGGTTTC[G/A]TTTAAAGGTACAGCAATAAACCCATATGCCTTGATTCCTT |
T |
T |
C___2829326_10 |
rs872236 |
|
chromosome
19 open reading frame 13|DKFZP434D1335 protein |
C19orf13|DKFZP434D1335 |
Intron |
19 |
39377457 |
|
|
0.08 |
0.15 |
hCV2829326 |
CAGTAACTTGGAAATGATAAGCTACATGAACATTCAACTA[G/C]AGAGAAAAAAGCCAAGGCTAACCCTGTGCGGAGTTTACCT |
G |
G |
C___3005322_1_ |
rs2297521 |
IMS-JST052098 |
chromosome
19 open reading frame 13|DKFZP434D1335 protein |
C19orf13|DKFZP434D1335 |
Intron |
19 |
39402372 |
0.38 |
0.19 |
0.14 |
0.13 |
hCV3005322 |
TAATCTGAATTACATAAAAACACCTAATCTGAGAAACATC[T/C]GTAATTCACAGATCAAATAAGATTATTTTCTGAAAAGAAA |
G |
G |
C___3005318_10 |
rs629018 |
|
chromosome
19 open reading frame 13|DKFZP434D1335 protein |
C19orf13|DKFZP434D1335 |
|
19 |
39415572 |
0.39 |
0.21 |
0.15 |
0.14 |
hCV3005318 |
CCACATCGGATTCAGAGTCCTACCTCGTGCTCTTGGAACC[G/A]GATTTACAGAATGTCTCAAACCACAAGCTTCCTTTTCTGG |
T |
T |
C__15855407_10 |
rs2923793 |
|
KIAA0355|hypothetical
protein FLJ21369 |
KIAA0355|FLJ21369 |
Intron |
19 |
39452218 |
|
|
0.48 |
0.43 |
hCV15855407 |
TTGATTGGTTGACAAAATCCGAAGCCCATGTTATCCTATA[C/T]TGAGCTATGAAAACTCAGGCGGATAGGAAAAAAACTACTG |
A |
A |
C___1345307_10 |
|
|
KIAA0355 |
KIAA0355 |
Intron |
19 |
39488283 |
0.45 |
0.13 |
0.19 |
0.19 |
hCV1345307 |
GCTCTGTTTCCTCCAATACCTGCAAGCATGTCCTGAAGAA[C/G]AGCTCAGTAATGCTCAGGTTAAAATAAAAGCCTTTGGCCT |
G |
G |
C__15855409_10 |
rs2923788 |
|
KIAA0355 |
KIAA0355 |
Intron |
19 |
39488650 |
|
|
0.45 |
0.43 |
hCV15855409 |
TGAAACTCAGAATAGACGCATAAATTGGAAAACCCACCAA[C/A]TACTTAGTTTCCAGACTCGTCTGGGAAAGCCTGTTCAGCC |
T |
G |
C___1345309_10 |
rs179186 |
|
KIAA0355 |
KIAA0355 |
Intron |
19 |
39491269 |
0.43 |
0.29 |
0.19 |
0.19 |
hCV1345309 |
CAGAATCACCCAAATTCCAGCTGCTTAATTAAGTACAGCT[G/T]CCTCTACAGGCTAAAGTCTGAAGACAATTTAGGTAATAGC |
C |
C |
C___1345321_10 |
|
|
KIAA0355 |
KIAA0355 |
Intron |
19 |
39500789 |
0.49 |
0.08 |
0.02 |
0.07 |
hCV1345321 |
CACACAAATCTCACACCAAAGCACTTGCCCTCCAGAGGGA[G/A]CAACAACCGACATCACAGGCTGAAGCCCCCCAAACTCCTG |
C |
C |
C___1345338_10 |
|
|
KIAA0355 |
KIAA0355 |
Intron |
19 |
39520507 |
|
|
0.19 |
0.19 |
hCV1345338 |
GCTCCTGGTGATGATAATTAATCTTTCTGAAAAATCAACA[G/A]TCAACAAACTGGCATTTTTATTTTATTCATCAGCCTTGAG |
C |
C |
C___3005292_10 |
rs328408 |
|
KIAA0355 |
KIAA0355 |
Intron |
19 |
39529218 |
0.41 |
0.21 |
0.49 |
0.3 |
hCV3005292 |
TTGGGGTCAGCCAGATAGAGGTTATATGCTGATCCCACTT[G/A]AGCTAAAGTTTGATCTAGTATTTTCCTGGCTATTGACAGG |
C |
C |
C____623326_10 |
rs422732 |
|
KIAA0355|glucose
phosphate isomerase |
KIAA0355|GPI |
|
19 |
39540290 |
0.24 |
0.16 |
0.42 |
0.24 |
hCV623326 |
TGCTGTCCACATACATGCTTTTGGGCAGTAGAGAAGCTGA[G/T]CATTGGGAAGGTTTATTTCCTGTCTCCACAACAGGAGGCA |
A |
A |
C__11491102_10 |
|
|
glucose
phosphate isomerase |
GPI |
Intron |
19 |
39566627 |
0.19 |
0.31 |
0.23 |
0.04 |
hCV11491102 |
AACAGACACTTTCCTCACACATGACAGATCCCTGGCTGCT[G/C]ACCTCGGCCTGAGGGAGCCTGGTGAGAGCCCAGTGTTGAC |
G |
G |
C___1997185_10 |
|
|
SUMO-1
activating enzyme subunit 2|hypothetical protein MGC13096 |
UBA2|MGC13096 |
|
19 |
39609327 |
0.21 |
0.35 |
0.23 |
0.05 |
hCV1997185 |
CAGAAGATGGGAGTGGGTGAGGGCGGGGACCTGGGCTGAT[G/C]AACATGGGCAGGTCTAAACAGCCAGGGTCACAGAGCAAAA |
C |
C |
C___9052751_10 |
|
|
SUMO-1
activating enzyme subunit 2 |
UBA2 |
|
19 |
39659484 |
0.17 |
0.41 |
0.23 |
0.05 |
hCV9052751 |
CTGGGAGGGCTTTTTCCATCCCCTCTTCTCTGAGCACCCA[C/T]CCTGTGTGCTGCCACGCTGAGAGGCAGCTTCCAGGAGCTC |
A |
A |
C___9052750_10 |
|
|
SUMO-1
activating enzyme subunit 2 |
UBA2 |
|
19 |
39659639 |
0.17 |
0.4 |
0.23 |
0.04 |
hCV9052750 |
ACTTCTTTCTCCTTAGCCTATGACAGTTTTTACCCTTGTC[G/A]AATTTCCAGCACCAGTCTCTCACCTGAAGCACACACACCT |
C |
C |
C__11960670_1_ |
rs1862490 |
IMS-JST013243 |
|
|
|
19 |
39695103 |
0.47 |
0.25 |
0.4 |
0.5 |
hCV11960670 |
GGGGTGGTCCTGAAATCACCTGCGTGCTAGGGCTCTCACA[C/T]GTGAAGCTGTTTCCACAGGAAGGTGCATGCTACACACAAC |
A |
A |
C___1878190_10 |
|
|
|
|
|
19 |
39772324 |
0.3 |
0.08 |
0.41 |
0.38 |
hCV1878190 |
TCCTGCCAGCTCCCCCTCCACTCCTCCCTGCAGCCTCCAA[C/T]TCTGTTCATCTCCCCTCACCCATGACAGCCAGAGCCCCTG |
A |
G |
C___1878191_10 |
|
|
|
|
|
19 |
39772420 |
0.29 |
0.1 |
0.4 |
0.36 |
hCV1878191 |
CCATGACTGTAGGTCTCACCCCCTAGGCTGCAGCACAAAG[A/G]GTCACCATGATGACAAGCCCTTCTCCACTGAGCCTGTGTG |
T |
C |
C___1878192_10 |
|
|
|
|
|
19 |
39772544 |
0.4 |
0.43 |
0.42 |
0.35 |
hCV1878192 |
ATCCTCCTTCCTCAGGATAAAATGCAGGCCCTGTGCAGGT[C/G]ATTGGAGGCCCACATCTTCTGTCCCCACACCTGCCTTGAA |
C |
G |
C___1878193_10 |
rs899196 |
|
|
|
|
19 |
39772980 |
0.43 |
0.4 |
0.14 |
0.12 |
hCV1878193 |
AGGACACCTGGGACCTCCTCCAGGCCCTGTGTCCTTGGGC[C/T]GTGCAGGACCTTGGAGGTGGAAACCATACCCCTTCTGTCT |
A |
A |
C___1655380_10 |
|
|
|
|
|
19 |
39787291 |
0.38 |
0.13 |
0.24 |
0.3 |
hCV1655380 |
ACTTTTACTGTGTCACAAACAACCTGAAAATTCAATAGAT[T/G]AAAATGACAATCATTGATGATCACTCATGTGCTGTAGTTT |
C |
C |
C___3057133_10 |
|
|
|
|
|
19 |
39822751 |
0.35 |
0.13 |
0.22 |
0.28 |
hCV3057133 |
ACTGAACCACTGGAAGGTTTGGTTGGCCATAAAGTCCAAG[G/A]TTTTCCCCAATTTATGGATCTGTTCTGAATTCCACACTAC |
C |
C |
C___3057101_10 |
|
|
zinc
finger protein 302 |
ZNF302 |
|
19 |
39856929 |
0.37 |
0.14 |
0.49 |
0.33 |
hCV3057101 |
GTCCCTGCTCAGTCCATCCAGAAAAGCTTACATAGGGATT[C/T]TTCATTGTTTCTGCTTTTCCTCATGATCTCACTGGAAGAA |
A |
G |
C___3057113_10 |
|
|
|
|
|
19 |
39940491 |
0.2 |
0.06 |
0.14 |
0.18 |
hCV3057113 |
ACTTACCCCCAAAAAACTAAGGAAGAGGTTGATGCAACTT[G/A]CTTTTCAGAAGAGGAAGGCATTACTGAGGGTGCCATATCA |
C |
C |
C___3057115_10 |
|
|
|
|
|
19 |
39949032 |
0.1 |
0.14 |
0.06 |
0.08 |
hCV3057115 |
GTTTTCTGGCCCTCCTGTCTTCTAAAAACCTCAAGGTGAT[G/A]ATTGCCTTTGTCAGTCCCACATCTGGGCTGCCAGAGGAAG |
T |
T |
C___2883616_10 |
|
|
|
|
|
19 |
40002208 |
|
|
0.28 |
0.33 |
hCV2883616 |
CTTCAACCATCCCACTGTCAGTTCCTCTAGACTGGGAGCT[G/C]AGTGGCTCATTTTTGCATTGGATCACTGCAAAAAAATTTC |
C |
C |
C___9610145_10 |
rs918446 |
|
|
|
|
19 |
40008379 |
0.06 |
0.13 |
0.07 |
0.03 |
hCV9610145 |
TGATTTCTGAAGGTGCTAGCTTCTCTGCAACCGTGTCCCT[C/T]CTTCGTCCAAAAAAGAAGATCTGCTTTGGTCCATCAAGCG |
A |
A |
C___2883633_10 |
|
|
|
|
|
19 |
40035533 |
0.48 |
0.26 |
0.42 |
0.44 |
hCV2883633 |
CTCAGTGTTTACATCAGAAGGGGGCCTCCCCTTGGTGTCA[C/T]GCCAGGGCTCTCAGAAAGACAGCACTGTATGCTTGCACCT |
G |
G |
C__11459134_1_ |
rs1055163 |
IMS-JST059515 |
|
|
|
19 |
40049811 |
0.47 |
0.24 |
0.41 |
0.41 |
hCV11459134 |
AAGCTGATTTTAAATCAGGGTAGCATTTCAGGAGGAAGAT[A/T]CGGGCTGACTGGCAATCACCCCCTCTCTGGTCTCTTTCTG |
A |
A |
C___2883666_10 |
rs1345657 |
|
|
|
|
19 |
40072038 |
0.27 |
0.19 |
0.39 |
0.38 |
hCV2883666 |
CTCCACAGCAGGTAGGGAGAACAGGAAGGCTGAGCTGCTA[C/T]GCTGTCTGAAGGGACCTGAGAATTATTCTCCCACCCTGAG |
A |
A |
C__11718840_10 |
rs2651121 |
|
|
|
|
19 |
40091330 |
0.22 |
0.49 |
0.2 |
0.26 |
hCV11718840 |
ACACAGGTATGGTGTGGTCTCCACCCATTATAGCCCTGTT[C/A]TTTGTCCAGGTGAGCCCTTACTGCTCTGATTGGGAGACAG |
T |
T |
C___2883740_10 |
rs2546009 |
|
zinc
finger protein 30 (KOX 28) |
ZNF30 |
Intron |
19 |
40121670 |
0.24 |
0.35 |
0.19 |
0.27 |
hCV2883740 |
AGAGAGACGAGACACACACCAGGTGAGTTGGCGAGCTGCC[A/G]TGACTTAAAGAAGATACAAGCATTTCACAGAACTCAGTAC |
A |
A |
C___2883747_10 |
|
|
zinc
finger protein 30 (KOX 28) |
ZNF30 |
Mis-sense
Mutation |
19 |
40126846 |
0.44 |
0.14 |
0.39 |
0.36 |
hCV2883747 |
CATGCAGAGATAAAGCCCTACGGATGCAAGGAATGCGGGA[A/G]AACCTTCAGTCGTGCCTCATATCTTGTTCAACATGGAAGA |
G |
G |
C___2883752_10 |
rs1053216 |
|
zinc
finger protein 30 (KOX 28) |
ZNF30 |
UTR
3 |
19 |
40127807 |
0.17 |
0.38 |
0.43 |
0.44 |
hCV2883752 |
AATATTTATACTGGTGGACCATTCAGAAAAAGTGGGAAAC[A/G]TTATTACTTAATGGTTACAGCACTGACAGCATGAACTTTT |
A |
A |
C___2883772_1_ |
rs3746239 |
|
FLJ38451
protein |
FLJ38451 |
UTR
3 |
19 |
40139815 |
|
|
0.42 |
0.43 |
hCV2883772 |
ACATCCAGTGTTTCTGTACAAATTATGGTCCCAGCTGGGC[C/G]TGGTATGTCTTACAGTTAAGAGATACCTGCCTAATGCTGA |
G |
G |
C___2883773_1_ |
|
|
FLJ38451
protein |
FLJ38451 |
UTR
3 |
19 |
40140643 |
|
|
0.4 |
0.36 |
hCV2883773 |
GCTTCTATCACAACCCCAGCAGTGAAAAAACGCTGATAAA[C/A]TCTACAGTAAGAGAATGTAACTTGTCTCCAGAAAGCTTCC |
C |
C |
C___2883774_1_ |
rs3746243 |
|
FLJ38451
protein |
FLJ38451 |
Silent
Mutation |
19 |
40140922 |
|
|
0.43 |
0.43 |
hCV2883774 |
GGTTGAAGGCTTTCCCACATTCGCTGCATTCGTAAGGCCT[A/G]TCTGGTTTGTGAACTTTCAGGTGCTGCCTCAGATTGGACC |
A |
A |
C___2883801_10 |
|
|
FLJ38451
protein |
FLJ38451 |
|
19 |
40154669 |
0.35 |
0.23 |
0.38 |
0.38 |
hCV2883801 |
GGAAAACAGGTAATTCACCTGTAATTTATCAAAACCAAAG[C/T]TTCCTCACCCCAACCCCTACACAGGGTCAAATTCAGTGTT |
C |
C |
C___3057247_10 |
rs786506 |
|
|
|
|
19 |
40171753 |
0.2 |
0.29 |
0.08 |
0.01 |
hCV3057247 |
ACACCCAGAGCTAAACAAAACCAACATGGGGAAGTGACAA[A/G]CATTTGAGAATTCTTACATTTCTCATAGCTGTATTCCCCC |
A |
A |
C___1656022_10 |
|
|
KIAA1533 |
KIAA1533 |
Intron |
19 |
40201719 |
|
|
0.22 |
0.24 |
hCV1656022 |
CAAAAGATTACAGGTCCAATGCTCAGGGCAGAAGCCAAGA[C/T]GGGTGCAGAGGGGGAAACTGAGGCTGCAGCAGTGGAGGAG |
T |
T |
C___1656020_10 |
|
|
KIAA1533|sodium
channel, voltage-gated, type I, beta |
KIAA1533|SCN1B |
Intron |
19 |
40206724 |
0.26 |
0.42 |
0.07 |
0.03 |
hCV1656020 |
GGCCTACCCCTGACACATCACAACAGCCAGGGCAGGCCAC[G/C]TGTGGTCCCTCTACCCGCTACCCCACTCTGGGGTAACTAA |
C |
C |
C__25473593_10 |
|
|
KIAA1533|hepsin
(transmembrane protease, serine 1)|sodium channel, voltage-gated, type I,
beta |
KIAA1533|HPN|SCN1B |
|
19 |
40214959 |
0.46 |
0.5 |
0.22 |
0.27 |
hCV25473593 |
CCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCA[T/A]AAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATG |
A |
A |
C__15966777_10 |
rs2278995 |
IMS-JST026513 |
hepsin
(transmembrane protease, serine 1)|sodium channel, voltage-gated, type I,
beta |
HPN|SCN1B |
|
19 |
40222577 |
0.16 |
0.09 |
0.24 |
0.18 |
hCV15966777 |
TCAGGCCCTGGGCCCCGCCTCAAGGAAGAGCCAGCCGTAA[T/C]GGGGACTCTCCAGGCACCGCCTGCCCCCAGCGTGGGGGTG |
C |
C |
C__16191595_10 |
rs2305749 |
|
hepsin
(transmembrane protease, serine 1)|sodium channel, voltage-gated, type I,
beta |
HPN|SCN1B |
Intron |
19 |
40224145 |
0.49 |
0.47 |
0.49 |
0.49 |
hCV16191595 |
GACCTGGGGCTGGAGGACGCAGAAAGGGCGGGGGGAAGGG[T/G]TCGCTGGGTGAGGGTGGAGTGGGCTTAGGGCAGCTGGGGC |
T |
T |
C__11468491_1_ |
rs1688023 |
IMS-JST027285 |
FXYD
domain containing ion transport regulator 3|leucine-rich repeat LGI family,
member 4 |
FXYD3|LGI4 |
Intron |
19 |
40299900 |
0.45 |
0.41 |
0.27 |
0.19 |
hCV11468491 |
GCCCTCACGTTCCCCATTCAGGCTGTTGTCTGAAGAGGCT[G/A]TGGGCTGCTCCCGAACTGATGTGGTTGGTGAGCAGGTTAG |
T |
T |
C__11468486_10 |
rs937087 |
|
FXYD
domain containing ion transport regulator 3|leucine-rich repeat LGI family,
member 4 |
FXYD3|LGI4 |
Intron |
19 |
40308962 |
0.38 |
0.43 |
0.32 |
0.2 |
hCV11468486 |
CCTGGGGGCGGGGGGCTGGCTTTTCAGCACTGACCCAATC[C/T]TGCACACTAAGCCTCTAAACTCTGACCTACCCTCACATGC |
G |
G |
C___1655913_10 |
rs1688002 |
|
leucine-rich
repeat LGI family, member 4|FXYD domain containing ion transport regulator
7|FXYD domain containing ion transport regulator 1 (phospholemman) |
LGI4|FXYD7|FXYD1 |
|
19 |
40319308 |
0.37 |
0.43 |
0.4 |
0.3 |
hCV1655913 |
TGGCTCAAACCACAAGCTGCTGGGGTCTGCTCCTCTAGGA[G/C]CTGGATCCGGAGCCCACCCCCAAGCTTGCCGACCACTGTG |
G |
G |
C___1655908_10 |
|
|
leucine-rich
repeat LGI family, member 4|FXYD domain containing ion transport regulator
7|FXYD domain containing ion transport regulator 1 (phospholemman) |
LGI4|FXYD7|FXYD1 |
|
19 |
40325076 |
0.36 |
0.45 |
0.41 |
0.3 |
hCV1655908 |
|
#N/A |
#N/A |
C___3057159_10 |
rs1688005 |
|
FXYD
domain containing ion transport regulator 5|FXYD domain containing ion
transport regulator 7|FXYD domain containing ion transport regulator 1
(phospholemman) |
FXYD5|FXYD7|FXYD1 |
Mis-sense
Mutation |
19 |
40340205 |
0.26 |
0.27 |
0.17 |
0.12 |
hCV3057159 |
CCTGGGGCTCGTGTCGGGACCTGAATGTCCATGATAGTTG[A/C]GTCTGCTGAAGAACTGGACGTGGTATCTTTCAACGTCTGT |
T |
T |
C___3057181_1_ |
rs12110 |
IMS-JST035742 |
FXYD
domain containing ion transport regulator 5 |
FXYD5 |
Mis-sense
Mutation |
19 |
40352348 |
0.2 |
0.06 |
0.2 |
0.17 |
hCV3057181 |
GCAGGTTGTCAGCTCCTGTTTCTGATGGACTCACCTGCAA[T/C]GATTCCGGCATAACCGGGACAGCTGCCTGCACTTGCCACC |
G |
G |
C___2537249_10 |
|
|
hypothetical
protein FLJ25660 |
FLJ25660 |
|
19 |
40415341 |
0.49 |
0.17 |
0.03 |
0.08 |
hCV2537249 |
AAAGTCCCTGCAGAATGAGACCCTGATCCTGGATGGCAAG[G/T]TACTCATCTTTACCCACTGGGACCCCCGGCAGGACTGTAA |
A |
A |
C___2537250_10 |
|
|
hypothetical
protein FLJ25660 |
FLJ25660 |
|
19 |
40415512 |
0.28 |
0.28 |
0.5 |
0.44 |
hCV2537250 |
AATGCCTGACATAAGGAAACTGCCTGGGGGTAGCCTTCAA[C/T]TGACCAACCCTCAGCCCTCCCAGACTGGCCTCTATCGCTG |
A |
G |
C__15888306_10 |
rs2073900 |
|
liver-specific
bHLH-Zip transcription factor |
LISCH7 |
Silent
Mutation |
19 |
40433296 |
|
|
0.49 |
0.43 |
hCV15888306 |
TGGCCACGACCCTGACGGTGCGCACGCTGTCCTGGCACTC[A/G]ACGTAGGGGTTGTAGCCTGGGTTCCCGGCTGCCAGCTGGG |
C |
C |
C___7612708_10 |
rs916147 |
|
liver-specific
bHLH-Zip transcription factor|upstream transcription factor 2, c-fos
interacting |
LISCH7|USF2 |
Intron |
19 |
40449090 |
0.43 |
0.2 |
0.22 |
0.18 |
hCV7612708 |
TGAGGTGGCTGCTTTGCCGGCGGCATACACTGTGAGGACA[T/C]AATCAACAGGAGAAGGGGGATGAGGCAGGAGCCAGGCTGC |
A |
A |
C___2254636_1_ |
rs720309 |
IMS-JST035653 |
myelin
associated glycoprotein |
MAG |
Intron |
19 |
40489756 |
0.19 |
0.11 |
0.17 |
0.18 |
hCV2254636 |
TCGGCGGAACGCCGACACCCTGCCGGTGCACGTGCTTAGT[T/A]TCTTTTCAGACAACCTGTGAAGCTGCGGAAACTGTTATGG |
A |
A |
C___2254639_10 |
rs756796 |
|
myelin
associated glycoprotein |
MAG |
|
19 |
40501640 |
0.23 |
0.05 |
0.12 |
0.18 |
hCV2254639 |
AGGAAGCTGCTGGAGTCACCTTTGACTCTTCAAGTGAGTC[C/T]CACCACTTCCTCCTCCAAAATGGGTCCTGACCCCACCCCT |
A |
A |
C___2531086_10 |
|
|
hypothetical
protein FLJ22814|G protein-coupled receptor 40|CD22 antigen |
FLJ22814|GPR40|CD22 |
Silent
Mutation |
19 |
40528370 |
0.21 |
0.1 |
0.27 |
0.12 |
hCV2531086 |
ATCTTCCATCATTGGATTGTAGCATCCCAGGGAGTGGGGG[C/T]CTTCAGAGAGGGGGGCCCTTCTAACCTGGGAGGGAGACGA |
#N/A |
#N/A |
C___2531094_10 |
|
|
hypothetical
protein FLJ22814|G protein-coupled receptor 40|CD22 antigen |
FLJ22814|GPR40|CD22 |
|
19 |
40531570 |
0.4 |
0.19 |
0.26 |
0.05 |
hCV2531094 |
CTTCAGGCTTAGGACTGCCTCAGCTCCCTCCAGGGTATCT[G/T]GCCTTAAAAACCCTTGGCGGCTCTCGACTAGAGATCCCCA |
C |
C |
C___2545090_10 |
rs756903 |
|
G
protein-coupled receptor 40|G protein-coupled receptor 42 |
GPR40|GPR42 |
|
19 |
40544533 |
|
|
0.33 |
0.26 |
hCV2545090 |
CCCCCACTCCCACGATCACCCACACCCTGATGGCTTTTCA[T/G]CTTCCCCACCCCTGGGCTTTTGCTTATACAGACTGGGCTG |
C |
C |
C___7612626_10 |
rs453945 |
|
G
protein-coupled receptor 42|G protein-coupled receptor 41 |
GPR42|GPR41 |
|
19 |
40556175 |
0.39 |
0.23 |
0.23 |
0.27 |
hCV7612626 |
AGGATGCACTCACACAGATACTCACTGTGCTTTGCATTTA[C/G]TTCTGTTCCTTATCACAGCCTGTTTGCATTTGTCCTGCTC |
C |
C |
C____321815_10 |
|
|
|
|
|
19 |
40612639 |
0.07 |
0.03 |
0.14 |
0.35 |
hCV321815 |
GCCTCACCTTCCCCCTTTTACAGCCTTCCCGTCTGATCTG[A/G]CATGAGGAACGTCAGGCTTCCATGACGCACCCCGCCCCTG |
T |
T |
C___2547591_10 |
|
|
G
protein-coupled receptor 43 |
GPR43 |
|
19 |
40642363 |
0.3 |
0.45 |
0.13 |
0.23 |
hCV2547591 |
CTGCTGGTGGCCAGCTGGCCGTGGCCAGCGTTTGCAGAGT[T/C]GGCTCCCCTCCCGCACTGCTTGACCTCGCATCTACTTTCC |
G |
G |
C___2547592_10 |
|
|
G
protein-coupled receptor 43 |
GPR43 |
|
19 |
40642504 |
0.33 |
0.22 |
0.13 |
0.22 |
hCV2547592 |
ATTTGGGAGCAGTGTGTTTACTTTCCTAACTCTGTTTTCT[C/T]GAGGCTGGTCGTAGCTCGGACTGACAGATGGCAGAGGACA |
A |
A |
C___2604617_10 |
|
|
hypothetical
gene ZD52F10 |
ZD52F10 |
|
19 |
40672866 |
0.16 |
0.19 |
0.23 |
0.26 |
hCV2604617 |
CTCTTTCTGGAAGGGATGGTGAAGTGTGTTGGGGAGGCTC[A/G]TGTACTGAACCTTGGGACTGAGTGGGTGGTCTGGGTTCAG |
T |
T |
C____348156_10 |
|
|
hypothetical
gene ZD52F10 |
ZD52F10 |
Intron |
19 |
40684531 |
0.48 |
0.13 |
0.5 |
0.34 |
hCV348156 |
CGGCTGGGTGGGTACCGCAGGGTGCACAGGTGCGGGGAGA[C/T]CGTATTGAGGGGAAGAAGGGGCCTAGGCTGCGGCATGGGG |
A |
A |
C____321944_10 |
|
|
hypothetical
gene ZD52F10|hypothetical gene ZD52F10 |
ZD52F10|ZD52F10 |
Intron |
19 |
40689203 |
0.39 |
0.27 |
0.47 |
0.42 |
hCV321944 |
CTTGGCGTGCCGTGGGACTACACGTTAGCTAATCTCATTT[A/G]CTTGAGGTGTTTTGGGGACAGACCAGGATGGAGGCAAGAG |
T |
C |
C____349471_10 |
|
|
hypothetical
gene ZD52F10|hypothetical gene ZD52F10 |
ZD52F10|ZD52F10 |
Intron |
19 |
40691331 |
0.35 |
0.46 |
0.33 |
0.49 |
hCV349471 |
AACTAAAATTTTCCCCCAAAATACTTCACTGATATTCCCA[G/T]TCCCATGTATTCAATCACTTCAACCACTGATTTAAAATGC |
C |
A |
C___2539321_10 |
rs2106446 |
|
hypothetical
gene ZD52F10 |
ZD52F10 |
|
19 |
40703924 |
0.37 |
0.25 |
0.3 |
0.26 |
hCV2539321 |
TGTGCAAAAAATGGGACGTTCCTCACTTTATAGTCACTGC[G/A]TTTTCCCTTATTTTGTGGAATACCATCATTTCATTACATA |
T |
T |
C___2539331_10 |
rs1029387 |
|
glyceraldehyde-3-phosphate
dehydrogenase, spermatogenic|HLAR698 |
GAPDS|UNQ698 |
|
19 |
40712481 |
|
|
0.16 |
0.09 |
hCV2539331 |
CCCTTGGCACCAAAACCCAAATATCTTTCACCCCTGCACC[T/C]ACTGTACCCACCCACTGGCTCTCGTTCTGGTCTTAGCCTC |
A |
A |
C___2539338_10 |
|
|
glyceraldehyde-3-phosphate
dehydrogenase, spermatogenic|HLAR698 |
GAPDS|UNQ698 |
Intron |
19 |
40716786 |
0.21 |
0.1 |
0.41 |
0.41 |
hCV2539338 |
TGGTGGTGAGGCTTCCCTGAGCTCTCGCCTGCGAAGTGGT[C/G]AGCACGTCCCCGGCAAGGTTCCAAGTGTCCTTGTTTTGTG |
C |
C |
C__15756517_10 |
rs2301617 |
|
ATPase,
H+/K+ exchanging, alpha polypeptide|glyceraldehyde-3-phosphate dehydrogenase,
spermatogenic|seven transmembrane domain protein |
ATP4A|GAPDS|NIFIE14 |
Intron |
19 |
40734047 |
0.25 |
0.21 |
0.42 |
0.38 |
hCV15756517 |
|
#N/A |
#N/A |
C___2539360_10 |
rs2733739 |
|
ATPase,
H+/K+ exchanging, alpha polypeptide|glyceraldehyde-3-phosphate dehydrogenase,
spermatogenic|seven transmembrane domain protein |
ATP4A|GAPDS|NIFIE14 |
Intron |
19 |
40737612 |
|
|
0.38 |
0.32 |
hCV2539360 |
GCCCAGGGTACCCATCCACAGGGTGCCCAGAGACACTTGC[C/T]TGCAGATGGACAGGAGGGACAGAGACCACCACAGACACTC |
A |
A |
C___2607130_10 |
|
|
|
|
|
19 |
40767093 |
0.43 |
0.38 |
0.3 |
0.36 |
hCV2607130 |
GATGAAGCATGTGTATTGGTTGCTGGCAAGTCCCTTGGAT[G/A]GTGGAACAAACAAACTAAGACAGGCTTAGAAACAAGTACA |
C |
C |
C__15963396_10 |
rs2285420 |
|
uroplakin
1A|uroplakin 1A |
UPK1A|UPK1A |
Intron |
19 |
40860712 |
0.09 |
0.06 |
0.08 |
0.08 |
hCV15963396 |
GGTGTAGAAATACATGGCTATCAGCATGACCGGGAGCTGG[C/T]GAGGAGGCAGCGAGATGAGGGCACTCCGCCCCCCACCCCC |
A |
A |
C___7612557_10 |
rs614225 |
|
testis
zinc finger protein |
TZFP |
|
19 |
40889754 |
0.44 |
0.21 |
0.48 |
0.39 |
hCV7612557 |
TGGTGGCTGTCTGCCGAGCTGGGATTAACTGCACACTTCA[C/T]GTGCCAGCACCCCGGGCCCCCACCACACCATAGAGGGAAT |
G |
A |
C___3111639_10 |
|
|
myeloid/lymphoid
or mixed-lineage leukemia 4|testis zinc finger protein |
MLL4|TZFP |
Intron |
19 |
40905301 |
0.21 |
0.11 |
0.13 |
0.23 |
hCV3111639 |
ATGCGGGGACCTTGCACAGGGGACTCGGGACCCTGGGGGA[A/G]AAATCGGAGTGTGTGTGGGCAGCTTGCGCTCCCGCAGCCC |
T |
T |
C___3111734_1_ |
rs3746278 |
|
myeloid/lymphoid
or mixed-lineage leukemia 4|presenilin enhancer 2|U2(RNU2) small nuclear RNA
auxiliary factor 1-like 3|hypothetical protein FLJ22573|protein
F25965|hypothetical protein MGC33901 |
MLL4|PEN2|U2AF1L3|FLJ22573|F25965|MGC33901 |
UTR
3 |
19 |
40925310 |
0.2 |
0.12 |
0.14 |
0.24 |
hCV3111734 |
TCCATAATGTAATCTGTTCAGCATGGAGACCTTCTTCTAC[T/C]GCCCCTGTCTTAATAAAGCTGCGTGTTTCACTTCGGCATC |
A |
A |
C___3111653_1_ |
rs2293688 |
|
hypotheticalprotein
FLJ32389|myeloid/lymphoid or mixed-lineage leukemia 4|presenilin enhancer
2|U2(RNU2) small nuclear RNA auxiliary factor 1-like 3|hypothetical protein
FLJ22573|protein F25965|hypothetical protein MGC33901 |
FLJ32389|MLL4|PEN2|U2AF1L3|FLJ22573|F25965|MGC33901 |
Intron |
19 |
40929085 |
0.25 |
0.4 |
0.3 |
0.28 |
hCV3111653 |
AAACCTCATAAGGCAATGAAGATCTTCTCCAACTCCCACC[C/G]AGATCTATTTGGAAGAAACTCTCCCACACCCAAGTTCAAA |
G |
G |
C___3111662_10 |
rs231241 |
|
hypothetical
protein BC017947|hypothetical protein FLJ32389|presenilin enhancer 2|U2(RNU2)
small nuclear RNA auxiliary factor 1-like 3|hypothetical protein
FLJ22573|protein F25965|hypothetical protein MGC33901 |
LOC148137|FLJ32389|PEN2|U2AF1L3|FLJ22573|F25965|MGC33901 |
UTR
3 |
19 |
40937253 |
0.04 |
0.42 |
0.2 |
0.23 |
hCV3111662 |
GGGCCAGGAAGGAGGGACCGGAGCAGACACCAGTGTGGAG[T/C]TGGGGGATGTTTACTGGTGTGGGGGGACCTGGGAACATCA |
A |
A |
C___3111663_10 |
|
|
hypothetical
protein BC017947|hypothetical protein FLJ32389|presenilin enhancer 2|protein
F25965 |
LOC148137|FLJ32389|PEN2|F25965 |
Intron |
19 |
40942099 |
0.19 |
0.14 |
0.19 |
0.35 |
hCV3111663 |
ATCTTGAATGGAGAAAACTGGCAGGCTGCAAGAGGAAAGT[A/G]GGGTTCAGGCAGCACGTGGTTTCGCCGCAGCCCTGGGGAG |
T |
T |
C__11716747_10 |
|
|
hypothetical
protein BC017947|hypothetical protein FLJ32389|sorting nexin 26 |
LOC148137|FLJ32389|SNX26 |
Intron |
19 |
40949328 |
0.21 |
0.13 |
0.1 |
0.25 |
hCV11716747 |
GGGTGGGAAGAGGGGAAGGGGTCAAAGTCAGGGGAGCGAG[C/T]ACTCCTGGTCTTCTCCATCTGTCATCATTCAAGTCTTTGT |
A |
A |
C___3111692_1_ |
rs231229 |
|
sorting
nexin 26|hypothetical protein BC017947 |
SNX26|LOC148137 |
Intron |
19 |
40961580 |
0.35 |
0.37 |
0.27 |
0.39 |
hCV3111692 |
AATAAGCAGGCTGGGCCAAGCTCTTGAGTACCCTGGTTGG[T/C]ATGACCATGGTGACCCTCCCATGGGACCCCCTGGAACTCC |
G |
G |
C___3111696_1_ |
rs231233 |
|
sorting
nexin 26|hypothetical protein BC017947 |
SNX26|LOC148137 |
Silent
Mutation |
19 |
40962979 |
0.04 |
0.27 |
0.13 |
0.09 |
hCV3111696 |
CCGCCACTGCAGGGATATTGAGTGACGCCTCCTCACTGAG[G/A]AGCAGTCGCCGGCCGTGATTGTCCAGCTGAAATAGAGGTG |
T |
T |
C___3111700_10 |
|
|
sorting
nexin 26 |
SNX26 |
Intron |
19 |
40968607 |
0.45 |
0.21 |
0.17 |
0.13 |
hCV3111700 |
CAGTATGATCCTTACACACACACCTGTGTATGATCAGACC[C/T]GGAAAGCAAGGGCAGGGTAGTCTGCAAATTGAGAGGATGC |
A |
A |
C____928366_10 |
rs731934 |
|
nephrosis
1, congenital, Finnish type (nephrin) |
NPHS1 |
Intron |
19 |
41013750 |
|
|
0.34 |
0.4 |
hCV928366 |
GTTAGGACCATGTCAGGATTCCCTCACTCAGAGGTACCCC[T/C]GACGCCTGGACTGGGTGCCTTGATCGTGTCTCCCTTCCAC |
G |
G |
C____928372_1_ |
rs437168 |
|
nephrosis
1, congenital, Finnish type (nephrin) |
NPHS1 |
Silent
Mutation |
19 |
41026259 |
0.06 |
0.43 |
0.16 |
0.2 |
hCV928372 |
AGGTGAACGTCGGGGGTTCTGTGGACATAGTCTGCACTGT[C/T]GATGCCAATCCCATCCTCCCGGGCATGTTCAACTGGGAGA |
A |
A |
C__15963588_10 |
rs2285450 |
|
nephrosis
1, congenital, Finnish type (nephrin)|kin of IRRE like 2
(Drosophila)|nephrin-like gene 1 |
NPHS1|KIRREL2|NLG1 |
Silent
Mutation |
19 |
41034107 |
0.01 |
0.11 |
0.12 |
0.21 |
hCV15963588 |
GACTTCCGGCTCCCCCTGCAGGTGAATTCCACCTGCACAT[C/T]GAGGCCTGTGACCTCAGCGATGACGCGGAGTATGAGTGCC |
#N/A |
#N/A |
C___2254667_10 |
rs404299 |
|
amyloid
beta (A4) precursor-like protein 1|nephrosis 1, congenital, Finnish type
(nephrin)|kin of IRRE like 2 (Drosophila)|nephrin-like gene 1 |
APLP1|NPHS1|KIRREL2|NLG1 |
Mis-sense
Mutation |
19 |
41041592 |
0.05 |
0.31 |
0.06 |
0.1 |
hCV2254667 |
GGCTAGCACAGGAATTTGGACCTGACCTGATGGAAGGTGG[C/T]TCCATCCAACAGGACCCCATCTCGGAACCACAGCAATTCA |
A |
A |
C____928322_10 |
rs230263 |
|
amyloid
beta (A4) precursor-like protein 1|kin of IRRE like 2
(Drosophila)|nephrin-like gene 1 |
APLP1|KIRREL2|NLG1 |
Intron |
19 |
41057208 |
0.06 |
0.31 |
0.12 |
0.05 |
hCV928322 |
GTGCTGGGGAGCGGGTGGGCACAGGGTCAGGAGAGGAGAA[G/T]ATGGGTCAAAGCCTGGTCAAAGAGAGCCTGGAAAGGCAGG |
A |
A |
C___7612392_10 |
rs1802029 |
|
T-cell
activation NFKB-like protein|TYRO protein tyrosine kinase binding
protein|hematopoietic cell signal transducer|phosphoinositide-3-kinase
adaptor protein |
TA-NFKBH|TYROBP|HCST|PIK3AP |
UTR
3 |
19 |
41087286 |
|
|
0.12 |
0.13 |
hCV7612392 |
GCCGTATTACAAATGAGCCCGAATCATGACAGTCAGCAAC[A/C]TGATACCTGGATCCAGCCATTCCTGAAGCCCACCCTGCAC |
G |
G |
C___2597354_10 |
|
|
leucine
rich repeat and fibronectin type III domain containing 3|hypothetical protein
MGC2656 |
LRFN3|MGC2656 |
|
19 |
41129263 |
|
|
0.1 |
0.09 |
hCV2597354 |
TTGGTCTTCTTCCCCCTGTCCCTCTGCCTGCTGGTCCTGT[T/G]TAGTCTTGGTTAGGTTTTTCTTTGCGTCACCCTTAAATAT |
C |
C |
C____457434_10 |
|
|
hypothetical
protein FLJ36445 |
FLJ36445 |
|
19 |
41179585 |
|
|
0.16 |
0.19 |
hCV457434 |
GAACTCATTTCCACTTATTTAACTGATATGGGTGCAAATA[C/T]AGCTCAGCGATGCAAAATGCATCCCTCCACAGAATGTCTA |
G |
G |
C__15963410_10 |
rs2285422 |
IMS-JST035618 |
CLIP-170-related
protein|hypothetical protein FLJ36445|hypothetical protein MGC15677 |
CLIPR-59|FLJ36445|MGC15677 |
Mis-sense
Mutation |
19 |
41189198 |
0.07 |
0 |
0.33 |
0.31 |
hCV15963410 |
CAGCCCGGACACTAGGAGTGCCCTGTGAGCTGTGTGGCCA[C/G]AGGGGGCCCCAGGGCAGGGGACAAGGCCTTGAGGTGAGAG |
C |
C |
C__15765621_10 |
rs2073894 |
|
CLIP-170-related
protein|hypothetical protein FLJ36445|hypothetical protein MGC15677 |
CLIPR-59|FLJ36445|MGC15677 |
Intron |
19 |
41193285 |
0.37 |
0.45 |
0.39 |
0.34 |
hCV15765621 |
ATGACCCTACAGAACAGGTGGGCCCCCAGACACTGCCCCA[G/A]CTGCTTGTAGGCACTTCAACCTCGCACATCCTCCAAGATG |
T |
T |
C__16163453_10 |
rs2073897 |
|
CLIP-170-related
protein|THAP domain containing 8|hypothetical protein FLJ32891 |
CLIPR-59|THAP8|FLJ32891 |
Intron |
19 |
41209574 |
0.03 |
0.11 |
0.1 |
0.07 |
hCV16163453 |
CAGGCCCCATCTGGAACCCGAAGCTTCGGATCCCAAAGTA[C/T]AGTCCCTGAAGCCCAGGGTCCTCCCCGTGCACTGGGCCCA |
G |
G |
C___2560997_10 |
rs2023865 |
|
chromosome
19 open reading frame 14|hypothetical protein FLJ33298 |
C19orf14|FLJ33298 |
|
19 |
41254897 |
0.31 |
0.19 |
0.36 |
0.43 |
hCV2560997 |
GTTCCCCAAAGCACTCATGCCTATTGAAATTATCTTTTTC[A/G]TGTACTTGCTTATCATCGAGCCCCCTTGCTATACTGCAGA |
T |
T |
C___2561003_10 |
|
|
chromosome
19 open reading frame 14|hypothetical protein FLJ33298 |
C19orf14|FLJ33298 |
|
19 |
41264404 |
0.41 |
0.28 |
0.33 |
0.3 |
hCV2561003 |
CCTTGGTTGCCGGCTCTTGCCCTCATGGAACCTAACATCT[A/G]GGGTCCATCAGACTCTCTCCTGCCCCTGCATTCAAGCTTA |
T |
T |
C___7612363_1_ |
rs1016993 |
IMS-JST001276 |
chromosome
19 open reading frame 14|hypothetical protein FLJ33298 |
C19orf14|FLJ33298 |
|
19 |
41266289 |
0.06 |
0.07 |
0.09 |
0.1 |
hCV7612363 |
GGACCCTCCTCCAGCTGGCATCTTCGGTGACAGTTCAGCA[C/T]TGGTACCATGTGGCTGGTGAAAGTGTCACGCTGCCCTAGA |
A |
A |
C___2561004_10 |
rs757223 |
|
chromosome
19 open reading frame 14|hypothetical protein FLJ33298 |
C19orf14|FLJ33298 |
|
19 |
41266638 |
|
|
0.35 |
0.31 |
hCV2561004 |
GCCAATATTTAAAAATTATCGAATTTCACAGAAAAAAATC[A/G]GCACTTTCTGCTCTTCTTGACAACAGGAAAGTTTGAAAAC |
C |
C |
C___2561005_10 |
rs3826995 |
|
chromosome
19 open reading frame 14|hypothetical protein FLJ33298 |
C19orf14|FLJ33298 |
|
19 |
41273476 |
|
|
0.33 |
0.42 |
hCV2561005 |
CACCATACCCTGCTGCCACTCAAAATGGAACCCACTTAGA[T/C]GCCCCACTTGGGGAAGGGCTCTGTAAATAAAGGAAACACA |
A |
A |
C___7612357_10 |
rs1548506 |
|
chromosome
19 open reading frame 14|hypothetical protein FLJ33298 |
C19orf14|FLJ33298 |
Intron |
19 |
41278649 |
0.46 |
0.43 |
0.33 |
0.3 |
hCV7612357 |
AATGGCCACCTGGAGGGGAATAACTTAAAATTTCGCAGGC[C/G]TCTGCTTTGTATTCACCAACATACAGGTAGATAAGAGACT |
C |
C |
C___2561013_1_ |
|
|
chromosome
19 open reading frame 14|hypothetical protein FLJ33298 |
C19orf14|FLJ33298 |
Intron |
19 |
41284592 |
0.42 |
0.27 |
0.35 |
0.32 |
hCV2561013 |
GATCCCCGTCTTCCAGGCTCAGTGGGCTCCAAGTGCAGGG[A/C]CTGTGCTTAGACATTGTGACTGGCCCTAAGCCAGGCCCGA |
G |
G |
C__16166376_10 |
rs2075473 |
IMS-JST003059 |
cytoskeleton
associated protein 1|polymerase (RNA) II (DNA directed) polypeptide I,
14.5kDa|chromosome 19 open reading frame 14|hypothetical protein FLJ33298 |
CKAP1|POLR2I|C19orf14|FLJ33298 |
|
19 |
41294290 |
0.07 |
0.13 |
0.09 |
0.13 |
hCV16166376 |
GAGGCATTCCCAACACAGAGAAGTAGGGGCGGACAGGTCC[C/T]GAGGCTGGAGGGCGTGTGCAGATGGGTCGGGGGAGCAAGG |
A |
A |
C__16175095_10 |
rs2239509 |
|
cytoskeleton
associated protein 1|polymerase (RNA) II (DNA directed) polypeptide I,
14.5kDa |
CKAP1|POLR2I |
Intron |
19 |
41303101 |
|
|
0.14 |
0.23 |
hCV16175095 |
CACAGCCCTGTGCACAGCGCATCTCCTCGATGGGCCTCTG[G/A]GACTCTCCTAAGCTGGCCCCAACCTCAGGCCCCAGAGCAT |
#N/A |
#N/A |
C__15871282_10 |
rs2072606 |
IMS-JST008673 |
cytoskeleton
associated protein 1|polymerase (RNA) II (DNA directed) polypeptide I,
14.5kDa |
CKAP1|POLR2I |
Intron |
19 |
41304066 |
0.45 |
0.33 |
0.42 |
0.42 |
hCV15871282 |
AGGACTCCTAGGCCCCCCAACTCCACAATCGTAAATGGAA[A/G]GGGTGCCGCCTGCACCCCTCACTACAGGACCCATGGTCTC |
#N/A |
#N/A |
C___2604684_10 |
|
|
calpain,
small subunit 1|cytoskeleton associated protein 1|polymerase (RNA) II (DNA
directed) polypeptide I, 14.5kDa |
CAPNS1|CKAP1|POLR2I |
|
19 |
41316199 |
0.24 |
0.02 |
0.24 |
0.18 |
hCV2604684 |
TGGAGGTGCCACATGAAGGAAGAGGGCCGAGCCCTGGCAT[C/T]GAGCACTTCTGCTCTTGATAGTCACCCAGACCCACAGCTG |
A |
A |
C___2953210_10 |
|
|
calpain,
small subunit 1 |
CAPNS1 |
|
19 |
41319630 |
|
|
0.4 |
0.43 |
hCV2953210 |
CAGTTATATGCTTTCAAAATGACTTGTACTTTCTCATGGC[A/G]CTCACTGCCAATCGTAACCATATTGTCATCTAGTTCTGGC |
C |
C |
C__16174414_10 |
rs2242525 |
|
calpain,
small subunit 1|cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) |
CAPNS1|COX7A1 |
Intron |
19 |
41324070 |
|
|
0.06 |
0.04 |
hCV16174414 |
AAACCAGGCCTCCCCGGCCTAATTCATGTACCCAGGTTAG[A/C]CTCCAGGTTAATCCTATTCTATTTTTAGACCACGCCCCTC |
#N/A |
#N/A |
C___2547312_10 |
rs753420 |
|
calpain,
small subunit 1|cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) |
CAPNS1|COX7A1 |
UTR
5 |
19 |
41335535 |
|
|
0.38 |
0.32 |
hCV2547312 |
CTGGCTGTGTAGACAGAACAGGGAGTTGGAACACGGCCTT[A/C]TGCGTTTCCTCACTCTCACATACCAGCGGGCAGGGAGAGA |
T |
T |
C___3280228_10 |
rs2112971 |
|
zinc
finger protein 565|hypothetical protein FLJ36991 |
ZNF565|FLJ36991 |
|
19 |
41358007 |
0.47 |
0.18 |
0.4 |
0.38 |
hCV3280228 |
AGACATTGCTCAAGTGCCTTCAGGAAGATTATGCAGCTGT[G/A]CATCTACCTACAGTAGAAGAGATCCCAAAGCCACGCTCAT |
T |
T |
C___2836969_10 |
|
|
zinc
finger protein 146|zinc finger protein 565|hypothetical protein FLJ36991 |
ZNF146|ZNF565|FLJ36991 |
Intron |
19 |
41391328 |
|
|
0.24 |
0.14 |
hCV2836969 |
TAGGCACGTAGCTTCAAGTTTTACTAGGTGGTGTAGAGAT[A/G]GCTCAACTTTCCAGAAGGATTTGTACAAAGTTTTGATGTT |
C |
C |
C___2836994_10 |
rs2432049 |
|
zinc
finger protein 146|zinc finger protein 565|hypothetical protein FLJ36991 |
ZNF146|ZNF565|FLJ36991 |
|
19 |
41407796 |
0.39 |
0.28 |
0.44 |
0.43 |
hCV2836994 |
GAAAAGCAAATCATGATAATAAAAGTAATAGAAAAACACT[G/A]AAGGCATTTCTATTAGATTCTAAACAGACAAGGATGCCTA |
T |
T |
C_____51817_10 |
rs2070132 |
|
zinc
finger protein 146|zinc finger protein 565|hypothetical protein FLJ36991 |
ZNF146|ZNF565|FLJ36991 |
Mis-sense
Mutation |
19 |
41419205 |
0.41 |
0.31 |
0.47 |
0.42 |
hCV51817 |
ACATACCTTACAGGCAAAGGGGTTTTCCCCACTGTAAATT[C/T]TCTGCTGGCTGAGGTGTGACATCTGAATGGAAGCTTTCCC |
A |
A |
C____500688_10 |
rs2945945 |
|
|
|
|
19 |
41548219 |
0.35 |
0.26 |
0.44 |
0.41 |
hCV500688 |
GAGGAGGTAACAGAGCACCATCCTGAGTGTCAGCCGTTCC[C/T]GCTATCACGTTCTTGTTGGAAACACTTTTCCATACTGTGC |
G |
G |
C___7837050_10 |
rs2385801 |
|
zinc
finger protein 545|hypothetical protein MGC45380 |
ZNF545|MGC45380 |
|
19 |
41602840 |
0.35 |
0.3 |
0.48 |
0.44 |
hCV7837050 |
ACCTTTGTGGTCATTTGTGGACATCCGAAGAGCGGTGAAC[C/A]TTTTTGAGTCCCTTAACAGGCATGTTCTCAGCCAAAGTCA |
G |
G |
C__11467757_10 |
rs1878926 |
|
zinc
finger protein 566|hypothetical protein FLJ14779 |
ZNF566|FLJ14779 |
|
19 |
41622361 |
0.39 |
0.45 |
0.16 |
0.33 |
hCV11467757 |
ATATTACAAGGGGAGCAAGAAAAACAGTAACACCCTTGCA[G/A]GGTAACTACCTCAGACAAGATCATTATAGGATTTTGAAGC |
C |
C |
C___1716937_10 |
rs2385797 |
|
zinc
finger protein 566|hypothetical protein FLJ14779 |
ZNF566|FLJ14779 |
UTR
3 |
19 |
41631412 |
0.22 |
0.2 |
0.1 |
0.17 |
hCV1716937 |
TGACAGCACTTTTAACACCTTTCTAACCTTCTTAACGTCA[G/A]AGAATTTTTGTAGAAATGTAGTCCTGTGATTGTCATTTTT |
T |
T |
C__16184169_10 |
rs2967449 |
|
|
|
|
19 |
41708165 |
0.36 |
0.32 |
0.12 |
0.26 |
hCV16184169 |
CCTGAGGTGCTATGTACAAATACTGTTTTTCCATTTGCTC[A/C]CATGTAGGTCAAAGCCAAAGAATCATCATTACTTTGTTCT |
G |
G |
C___2903775_10 |
rs2967440 |
|
zinc
finger protein 529|KIAA1615 protein |
ZNF529|KIAA1615 |
Intron |
19 |
41751055 |
0.37 |
0.13 |
0.34 |
0.41 |
hCV2903775 |
CTGGGCTGCTTCTTCCAGGCTGCACTAGAGATGGAGTAAG[A/G]GCACAAGTAACATAATCAACAAATTCACTACCATTTTGAA |
C |
C |
C__11714767_10 |
|
|
zinc
finger protein 529|KIAA1615 protein |
ZNF529|KIAA1615 |
UTR
5 |
19 |
41755890 |
0.33 |
0.17 |
0.11 |
0.24 |
hCV11714767 |
GGAGCCGGGAGCCTGAGGCCTCTGTACGCGGGAGCTGCGG[A/T]CGATGGTGGTTAGTGCTATTGTTTACGACGTCATTGTGGT |
A |
A |
C__16184135_10 |
rs2967422 |
|
|
|
|
19 |
41767870 |
|
|
0.48 |
0.35 |
hCV16184135 |
TTGTTGTTTCTCCCCACTACAAACTCAGAGAGGCAAGGAC[C/G]ATGCACTTTGGCCACAGCAACCTGATTGACTTATGTGCTA |
G |
C |
C___2903749_10 |
rs3111545 |
|
|
|
|
19 |
41778010 |
0.31 |
0.42 |
0.19 |
0.15 |
hCV2903749 |
AGAGTTCTTTGTAAATATTGTCAAGCTGCAGAGGTCATAA[A/G]TTCACTCTTCTTCAACTTGGATACTGAGAAAAGAGGTAGT |
C |
C |
C___7828030_10 |
rs1035777 |
|
zinc
finger protein 382 |
ZNF382 |
|
19 |
41786275 |
0.39 |
0.17 |
0.32 |
0.39 |
hCV7828030 |
TCTGAGAGAAGAAAAGCATTGTAGTTGCACATTTTAAAGC[A/C]AAGCTGGAGGTCATTTTGATTTTTTTCTTTGTTTTATGAA |
G |
G |
C____147398_10 |
|
|
gonadotropin
inducible transcription repressor 1|zinc finger protein 382 |
GIOT-1|ZNF382 |
|
19 |
41817115 |
0.37 |
0.16 |
0.32 |
0.4 |
hCV147398 |
CACTGTTAGATGTGATGGAGACGCCCAACAGAGCACACAC[G/A]CTGAGTTCCATCTTCCATAGGTGTGCCACCCCCAGACATG |
T |
T |
C_____30099_10 |
|
|
gonadotropin
inducible transcription repressor 1 |
GIOT-1 |
|
19 |
41839479 |
0.3 |
0.4 |
0.17 |
0.12 |
hCV30099 |
AGAGAAACCTTACATAAATTTAAGTACTATTTTATCGCCT[G/A]TTTGTTTGCTTTGTTTGTTATGATCCTGTGTTCATCTGAA |
T |
T |
C____375951_10 |
rs3108196 |
|
gonadotropin
inducible transcription repressor 1 |
GIOT-1 |
|
19 |
41842479 |
0.27 |
0.15 |
0.11 |
0.23 |
hCV375951 |
GAGAGTCTGGATCATTCTACATTAATATTCTTTGGGAACA[T/C]AGTAAATATACAGGGAGAGGTGGTGGATGATAACAGTTAA |
G |
G |
C____392409_10 |
|
|
zinc
finger protein 567|hypothetical protein MGC45586 |
ZNF567|MGC45586 |
Intron |
19 |
41879410 |
|
|
0.13 |
0.24 |
hCV392409 |
GGGAAGACAAGTGACCACTATGAGAAAGGAACCCAAATAA[A/G]GATGGTATCAGTGGAGGATGGAGGGAACTGTGGTAAGAGG |
C |
C |
C____482841_10 |
|
|
zinc
finger protein 567|hypothetical protein MGC45586 |
ZNF567|MGC45586 |
Intron |
19 |
41897848 |
0.11 |
0.04 |
0.32 |
0.43 |
hCV482841 |
AAAAATTTAAGAGCTGAGAAAGTCAGTGATTTTCATTTCT[C/G]ACACATTGTCAGAAAATAGGTGAGATGATAGACTGTAGTA |
C |
C |
C__11526204_10 |
|
|
|
|
|
19 |
41940918 |
0.27 |
0.19 |
0.14 |
0.22 |
hCV11526204 |
CCTGCTAGGAGTTCTGCCTCATTTTGTATACATACTACAC[T/C]TGTAAGGCATGAGTCGTCATTTAAGGTTTTAGTTTTTTAT |
A |
A |
C___8712908_1_ |
rs1673087 |
IMS-JST042752 |
|
|
|
19 |
41956030 |
0.24 |
0.26 |
0.09 |
0.13 |
hCV8712908 |
GACTGAGCCCTGGACTCACCCATATACAGATTGAATTGTC[C/T]GGTCAGTGTTTCATCCCCTCTGCATTCTGAGGGCGAGTTA |
A |
A |
C___8712907_1_ |
rs2245366 |
IMS-JST042753 |
|
|
|
19 |
41956174 |
0.29 |
0.19 |
0.17 |
0.21 |
hCV8712907 |
CCACGATCCGCTCCCAGAGAGCATTCGCGCACAATCTTAT[C/T]CCATCCACGATTTTGATTCCTTTTCTCCCACTTCTTCAAC |
A |
A |
C____601983_10 |
rs486466 |
|
zinc
finger protein 345 |
ZNF345 |
Intron |
19 |
42038824 |
0.49 |
0.26 |
0.18 |
0.15 |
hCV601983 |
AAAGAAGGGAAATAACATTTTCTCAACACCTGATGTGTAT[T/C]AAGTGTTGTGCACATAAGTTATTTCAATCTTGACGACACT |
G |
G |
C___2992419_10 |
rs573294 |
|
|
|
|
19 |
42102002 |
|
|
0.04 |
0.07 |
hCV2992419 |
TGTCCACCCACCCCCCTCAACATAAACTCCATGAAAACAA[G/A]GACTTATTTTTGTCTGTTTTTGATATTCATAGTAGGTGCT |
T |
T |
C___3173610_10 |
rs1667382 |
|
|
|
|
19 |
42107862 |
|
|
0.16 |
0.23 |
hCV3173610 |
CAGACAAAGGAATATAGAAATCTTCAGTACCAGGTGGCTA[T/G]AAGACCCTCTACAGATGAATGATCCTTGAAGCAATAAGAA |
A |
A |
C___1276989_1_ |
rs1375477 |
IMS-JST062502 |
|
|
|
19 |
42157254 |
0.43 |
0.42 |
0.2 |
0.22 |
hCV1276989 |
GTAAATATTTTAGATAAATTTCTGAAATAGGACACTGTCC[T/C]GAAAACCAGTAAGTCCTTTCCAAGAAAATGTCAAATGCAA |
G |
G |
C___2000890_10 |
rs1667378 |
|
|
|
|
19 |
42183913 |
0.48 |
0.38 |
0.19 |
0.12 |
hCV2000890 |
TCCAGGTATCACGCTGACATACAGACATGCATCTTGTATT[G/T]AAGAAGACCATTTTCTCCCATTTTGTTAGGAAACAAAATT |
A |
A |
C___2092185_10 |
|
|
hypothetical
protein FLJ32191 |
FLJ32191 |
Intron |
19 |
42279409 |
0.48 |
0.41 |
0.19 |
0.11 |
hCV2092185 |
ATCCAGGGGTGCTACAATGAAGTAGGAACCAGAAAGTAGA[G/T]GGAGTAAATATGCTCTGAAGTTACAGTTACCCTTGGGATA |
C |
C |
C___2092207_10 |
|
|
hypothetical
protein FLJ32191|zinc finger protein 585A|hypothetical protein FLJ23765 |
FLJ32191|ZNF585A|FLJ23765 |
|
19 |
42319435 |
0.47 |
0.42 |
0.19 |
0.11 |
hCV2092207 |
ATGCTATAGATTCTACATTGAAGTGATCAAAACCTGTTGA[C/T]GCTTGTTATACTCCATCTATACTGATCGTGGCCAGTTGAA |
G |
G |
C___8712094_10 |
rs1148395 |
|
zinc
finger protein 585B|zinc finger protein 41-like|zinc finger protein 41-like |
ZNF585B|SZFP41|SZFP41 |
Intron |
19 |
42374840 |
0.23 |
0.05 |
0.16 |
0.29 |
hCV8712094 |
GAGTAGCATAATGACTGGTCCTAAATTGATCAGCCACTGT[A/G]TGGCAGGTTGTTCATCCATGTGCTAGAAGACTAAAAGGCA |
C |
C |
C___3225238_10 |
|
|
hypothetical
protein FLJ35863|zinc finger protein 41-like |
FLJ35863|SZFP41 |
|
19 |
42394179 |
0.37 |
0.4 |
0.27 |
0.3 |
hCV3225238 |
TACTAAAAATTGTACCTCCCTTCCTGCAGGATACTACCTA[C/T]TGTGACATAACTCCGTCTTGCCTAGTGGTTTCACCCAGGA |
A |
A |
C___3225244_10 |
rs860386 |
|
hypothetical
protein FLJ35863 |
FLJ35863 |
Intron |
19 |
42412942 |
0.35 |
0.4 |
0.2 |
0.3 |
hCV3225244 |
AGGCTTTAGCTGCAGCAAGACAAGGACTCAGATTCATTCT[C/T]CCTCATGCAAACAACCTAAGTTCCTGCCTTAGCCAACGGA |
A |
A |
C___8712018_10 |
rs320879 |
|
hypothetical
protein FLJ35863 |
FLJ35863 |
Intron |
19 |
42418162 |
0.35 |
0.38 |
0.2 |
0.27 |
hCV8712018 |
GTCATTATATTGGTGTCACTGAGAACCTGTATCTTTAGAT[T/C]TCAGAAATAGATGCAAGAGTAGGAAGTTTATATTAAACAA |
G |
G |
C___8707248_10 |
rs1530500 |
|
GLI-Kruppel
family member HKR1 |
HKR1 |
|
19 |
42515651 |
0.19 |
0.04 |
0.03 |
0.08 |
hCV8707248 |
CTCCTTAAAGCACAGATAATGACAAGTGGTTCAGATTTAC[G/A]AGGGTAACTCAGGTGAGAGTGTATCATTGTACTTGGCACA |
A |
A |
C___1134976_10 |
rs713256 |
|
|
|
|
19 |
42557205 |
0.2 |
0.24 |
0.18 |
0.34 |
hCV1134976 |
CAGAGCTATCCTCTTTAGATGGATGATGATTTGTTGAGTC[A/G]GCAATGAGTGCAAGTGAAATAAGGGATAGAGTTTGATTAC |
A |
A |
C___1134986_10 |
rs1559229 |
|
|
|
|
19 |
42568037 |
0.19 |
0.37 |
0.23 |
0.35 |
hCV1134986 |
CCCGCACACAAGTTTTCAAGGTTAATGTCAAATTCATTCC[T/C]TTCAACCAGATGTCGTCAGGATGGTAGTGAGGAGGTCATG |
C |
C |
C___7832247_10 |
|
|
|
|
|
19 |
42577068 |
0.21 |
0.46 |
0.23 |
0.35 |
hCV7832247 |
CCTGAAAGCCAGCTACTCATGGGGGACGGAATTGTGAATT[T/C]AGCCCACGTCCTTCCTCTACGTACATGGGTTGAGTCCCAA |
C |
C |
C___8714345_10 |
rs1465434 |
|
zinc
finger protein 569|hypothetical protein FLJ32053 |
ZNF569|FLJ32053 |
Intron |
19 |
42607072 |
|
|
0.03 |
0.09 |
hCV8714345 |
AAAAGAAAGGATCCTGTATATGAGGGTGGATGGTACTCCC[A/G]AAGATGCTAATAATAGAATGAATATCAAAGTAAGCCTGGA |
A |
A |
C___7832145_1_ |
rs2303131 |
IMS-JST059696 |
zinc
finger protein 569|hypothetical protein FLJ32053 |
ZNF569|FLJ32053 |
Intron |
19 |
42627865 |
0.19 |
0.23 |
0.18 |
0.33 |
hCV7832145 |
CCAAGAATATTCATACCACAAAGGTTCTTAATAGGTGTGA[A/G]GATGATTGGAATAATCATGCAGAGCTTGGGCACAGGGTGG |
A |
A |
C___8714337_10 |
rs1015849 |
|
zinc
finger protein 569|hypothetical protein FLJ32053 |
ZNF569|FLJ32053 |
Intron |
19 |
42638020 |
0.19 |
0.32 |
0.18 |
0.33 |
hCV8714337 |
CAAGCAAAGCAGTAGCAATTGGTAAGGCCTCAGAAAAGAC[A/G]GAATTCAGTATACTGGAGGAACTCAACTTTAAGCTAATTG |
A |
A |
C___7832118_10 |
|
|
zinc
finger protein 569|zinc finger protein 570|hypothetical protein
FLJ30791|hypothetical protein FLJ32053 |
ZNF569|ZNF570|FLJ30791|FLJ32053 |
|
19 |
42650315 |
0.2 |
0.38 |
0.18 |
0.33 |
hCV7832118 |
CTGCAGGTTCGCAAGGTCCGTGAAGGAAGCCCGGCTCAGT[C/G]TGTTTAGTTCCGTCTTTTTGGGTCTCTACCTGAGGCTAGA |
C |
C |
C___1150113_10 |
|
|
zinc
finger protein 569|zinc finger protein 570|hypothetical protein
FLJ30791|hypothetical protein FLJ32053 |
ZNF569|ZNF570|FLJ30791|FLJ32053 |
Intron |
19 |
42658763 |
0.21 |
0.23 |
0.18 |
0.33 |
hCV1150113 |
AGAACTACAGGATCTTGGTATCACTGGGTAAGGATATCTT[T/C]TTGCAAAACTGAGCTTCTGCTCAAAAGGGGCTCTTTGCTA |
T |
T |
C___1150105_10 |
rs1382357 |
|
zinc
finger protein 570|hypothetical protein FLJ30791 |
ZNF570|FLJ30791 |
|
19 |
42669449 |
0.2 |
0.38 |
0.23 |
0.34 |
hCV1150105 |
ATAAATGGCAGTCTTTGTACTGTAGCTTAGTAGTTGTTAT[G/A]AAGTCAGGTAGTGGAACTATAACACTGACAGCCAGTTTTA |
A |
A |
C___8714329_10 |
|
|
|
|
|
19 |
42680128 |
0.15 |
0.08 |
0.18 |
0.18 |
hCV8714329 |
CTTTAAACTCACACTAATGAAGCTGCAATCTGGAGGTCAG[C/G]AAGTTTCTGGAAATTGTTGCTGGTGATGAATTCACTTAGA |
C |
C |
C____303802_10 |
|
|
|
|
|
19 |
42680565 |
0.22 |
0.44 |
0.22 |
0.34 |
hCV303802 |
AGCAGATAACAAGGGCTAGTTGCAACTGTAATGTATATTC[G/A]TATTTCTTGAAGACTCACCATTGTGGGCTAAGAGAAGTTG |
A |
A |
C__11715472_1_ |
rs2279148 |
IMS-JST026743 |
|
|
|
19 |
42716523 |
0.23 |
0.29 |
0.32 |
0.31 |
hCV11715472 |
TGCTTTCCCTAATTTCTGCACTCAAATTTAAATCACTCCC[A/G]TAGACAGATGACTGTGGGATCAGAGAAGAGGAAGCAGTGA |
A |
A |
C___1150040_10 |
rs2199644 |
|
|
|
|
19 |
42721843 |
0.23 |
0.04 |
0.06 |
0.1 |
hCV1150040 |
CCTCTGCAGAAATAATAAAGCAGTGTTTTTAAATGTATTT[G/T]GATAATTTGGCCAAAAATTTTACTAAAATGTAGTTATTTA |
G |
G |
C___1150032_10 |
rs2061778 |
|
hypothetical
protein DKFZp547B0714 |
DKFZp547B0714 |
|
19 |
42727845 |
0.23 |
0.19 |
0.12 |
0.15 |
hCV1150032 |
AGTGTGTGTGGCAGCCTTGGGGCGAGGTGGAGAGGGTTGT[A/T]GCAGTGGCCCTGCCGCCACAGAAGGAGAGATGTCCTTTGA |
T |
T |
C___1150018_10 |
|
|
zinc
finger protein 571|HSPC059 protein|hypothetical protein DKFZp547B0714 |
ZNF571|HSPC059|DKFZp547B0714 |
Intron |
19 |
42757427 |
0.25 |
0.17 |
0.12 |
0.14 |
hCV1150018 |
CCTAAACTTTTCAACAAACCTAAACATAGCACCAGTTTTA[G/C]TAGATATGACTAGAAAAAGTCACTCTAAAAATCATTTCTA |
G |
G |
C___1150016_10 |
|
|
zinc
finger protein 571|HSPC059 protein|hypothetical protein DKFZp547B0714 |
ZNF571|HSPC059|DKFZp547B0714 |
Intron |
19 |
42758622 |
0.23 |
0.31 |
0.31 |
0.34 |
hCV1150016 |
ACACTGAAACCATAAAGTGTTAATTACTCCATGTTCGGTG[A/G]ACATAGTAAAAAACATGACACAAACATATACACACAATTT |
G |
G |
C___1149996_1_ |
rs2291000 |
|
zinc
finger protein 540|zinc finger protein 571|HSPC059 protein|hypothetical
protein DKFZp547B0714 |
ZNF540|ZNF571|HSPC059|DKFZp547B0714 |
IntronIntron |
19 |
42777435 |
0.23 |
0.05 |
0.06 |
0.1 |
hCV1149996 |
CGGTATTCCCAGCACCATACAAGAACTACTTTTTCGATGA[A/G]GCAACCCAAAAGCTGCGAGCGGTTCCCGGTGAGGCCGCCC |
A |
A |
C__11467881_10 |
rs1975937 |
|
zinc
finger protein 540|zinc finger protein 571|HSPC059 protein|hypothetical
protein DKFZp547B0714 |
ZNF540|ZNF571|HSPC059|DKFZp547B0714 |
Mis-sense
Mutation |
19 |
42783772 |
0.23 |
0.31 |
0.31 |
0.33 |
hCV11467881 |
ATTTCTTTCTTGTAAGCAGGATATTCTGGCTCAAAGCCAG[T/A]TGTGATTACCTTACTGGAGCAAGGGAAAGAGCCCTGCGTG |
A |
A |
C___1150062_10 |
|
|
likely
ortholog of mouse zinc finger protein 30|KIAA0961 protein |
ZFP30|KIAA0961 |
Intron |
19 |
42809903 |
|
|
0.19 |
0.18 |
hCV1150062 |
CTGTTTTACCCACCAACTTTCTGAATCTGAATGCTTATTA[T/C]TCTATGGCTGTTCCACCACTGGATGTGGGTGTGTCAAGAA |
C |
C |
C___1150072_10 |
rs2927745 |
|
likely
ortholog of mouse zinc finger protein 30|KIAA0961 protein |
ZFP30|KIAA0961 |
Intron |
19 |
42820937 |
|
|
0.4 |
0.28 |
hCV1150072 |
AGATACCTCCACTGCAGTTCAATTCCTACTTTGCATAATC[A/G]TAAGTGAACTTTGCCCCCTTTCACGACCAAGGTAATAAGA |
A |
A |
C___1150083_10 |
|
|
likely
ortholog of mouse zinc finger protein 30|KIAA0961 protein |
ZFP30|KIAA0961 |
Intron |
19 |
42829965 |
0.2 |
0.09 |
0.11 |
0.14 |
hCV1150083 |
ATTTCTGCCCCATCTCTGCTCTAGACAGATAAGGAGCACA[C/G]AAGAGATGCTGAATGATTTGGTCAATGCACACATGGATAC |
G |
G |
C___1150092_10 |
rs2927739 |
|
hypothetical
protein FLJ37549|likely ortholog of mouse zinc finger protein 30|KIAA0961
protein |
FLJ37549|ZFP30|KIAA0961 |
|
19 |
42841170 |
0.24 |
0.3 |
0.31 |
0.34 |
hCV1150092 |
GTTAGTGATGTCTGAGACCTCAAAGACCTCTCAGAGGCCC[A/C]CAGTTTTGAGTGTAGTTTTTCATTTAGTTTGCCTATGACT |
A |
A |
C__11467877_10 |
rs2058852 |
|
hypothetical
protein FLJ37549 |
FLJ37549 |
|
19 |
42856442 |
0.35 |
0.4 |
0.07 |
0.08 |
hCV11467877 |
TTCTGCTGGGAGTACCCCAACACCCTTACCCACCTGGATA[C/G]CACCCTGTTTTCCCAGCCATCCAGGGTTCTTTCCCTTGTT |
G |
G |
C___2819374_10 |
rs2909105 |
|
hypothetical
protein FLJ37549 |
FLJ37549 |
|
19 |
42859746 |
|
|
0.31 |
0.37 |
hCV2819374 |
TACAGTTAGATTGGGAGGATATGGGGATGCAGTGGTTGAT[C/T]GTTATTAAGGTGAAAGTTTAAATGAAAACTAGAAGGTCTG |
C |
C |
C___2819377_10 |
rs2909109 |
|
hypothetical
protein FLJ37549 |
FLJ37549 |
|
19 |
42861195 |
0.19 |
0.3 |
0.31 |
0.34 |
hCV2819377 |
AGACAGTCTCCACTAGAGAGATTCCTCTACTGTCGTGGGC[G/A]ATTAGGAGGAGAGGGTGCATGGCAGAATGCTGGCACAGTT |
G |
G |
C__16079933_10 |
rs2160640 |
|
hypothetical
protein MGC13071|zinc finger protein 573|hypothetical protein FLJ37549 |
MGC13071|ZNF573|FLJ37549 |
|
19 |
42875230 |
|
|
0.05 |
0.09 |
hCV16079933 |
CAGGGCTGCCCGAGGGGCTTAGTCCCAGAGCCAGTGCTGT[T/C]AGGGGCTGAGCATGTGAATAGGGCAGTCGGAAGACCATGT |
T |
T |
C___2819389_1_ |
rs2287229 |
IMS-JST038031 |
hypothetical
protein MGC13071|zinc finger protein 573|hypothetical protein FLJ37549 |
MGC13071|ZNF573|FLJ37549 |
UTR
3 |
19 |
42880492 |
0.24 |
0.34 |
0.31 |
0.34 |
hCV2819389 |
TAAAGAATGGTTTCCTACGTTTTCTCAGTTTTCCTCTACT[A/G]TGAATATTTTGGCAATCCAAAACTAGAGGAATATCAGAAA |
A |
A |
C___2819392_10 |
|
|
hypothetical
protein MGC13071|zinc finger protein 573|hypothetical protein FLJ37549 |
MGC13071|ZNF573|FLJ37549 |
|
19 |
42883528 |
0.23 |
0.03 |
0.04 |
0.09 |
hCV2819392 |
AAGATAAAAGCAGAATGTGATGGGTTAGGAAACGGAATAG[C/T]GTCAACACCTAAATCAAAGACATGGTGTTTACAAAAATCA |
C |
C |
C___2819408_10 |
|
|
hypothetical
protein MGC13071|zinc finger protein 573 |
MGC13071|ZNF573 |
|
19 |
42899472 |
|
|
0.06 |
0.1 |
hCV2819408 |
TGGGTTATTCTAAATTTCTTCTTTGAAACTATCTTAGGGA[A/G]TGAAATTTTTGTGACGAAACTGCCTTAATTCCATCATCAT |
A |
A |
C___2819427_1_ |
|
|
hypothetical
protein MGC13071|zinc finger protein 573 |
MGC13071|ZNF573 |
UTR
3 |
19 |
42921218 |
0.23 |
0.43 |
0.31 |
0.34 |
hCV2819427 |
TCTCACCAGTGTGGGCTGTCTGATGATGAATGGCGCGCTC[G/A]TACTCTTTACGGTCTTACACTTTTATGCTCCTATGAATTC |
A |
A |
C___8710531_10 |
rs856304 |
|
hypothetical
protein MGC13071|zinc finger protein 573 |
MGC13071|ZNF573 |
Intron |
19 |
42952750 |
0.23 |
0.46 |
0.33 |
0.35 |
hCV8710531 |
CAGGCACAGTAAAACCTTATTTTAATGTAAACTCATACAC[A/G]CGTGGTCTCTTAGGAGAAAGTTTAACCTGTGACCTTATAA |
G |
G |
C____534900_10 |
rs241951 |
|
hypothetical
protein MGC13071|zinc finger protein 573 |
MGC13071|ZNF573 |
Intron |
19 |
42962003 |
0.4 |
0.26 |
0.08 |
0.14 |
hCV534900 |
GCCCAGAGCCCTCCCTGCGAGTACTCTGTGCCTGTTATAT[A/C]CTGAAATGAGTTCAACCCACCTTGCAAAAGAACCACGCGA |
A |
A |
C___2959065_1_ |
rs2075281 |
IMS-JST002754 |
|
|
|
19 |
43000547 |
0.23 |
0.48 |
0.35 |
0.42 |
hCV2959065 |
GGGAATTATGGATCAGGAATTGCCCTGAGATGGGGTCCTG[G/A]TAACAGATAGACTCTAGGATAGGATTCCCTCCTGGGGATT |
G |
G |
C___1135264_10 |
|
|
NYD-SP11
protein |
NYD-SP11 |
|
19 |
43068325 |
0.23 |
0.05 |
0.08 |
0.09 |
hCV1135264 |
GCCTCAAAGGGAAACTTAGAATGGCTGCATCTGGCCAAAC[A/T]TGAAGCCATTGTGTACCGTCACAGACAGGCCCTGGAGTCA |
T |
T |
C____208759_10 |
|
|
NYD-SP11
protein |
NYD-SP11 |
|
19 |
43070379 |
|
|
0.08 |
0.09 |
hCV208759 |
AGCAATTAGTGCAAGTAAAGAACAAATTGGGAATGTTCAA[G/C]AAGATACTGGCTCAGGTAGAGGAGAAGCTGACACAGGAAA |
G |
G |
C___1011744_10 |
rs729083 |
|
|
|
|
19 |
43206557 |
0.25 |
0.43 |
0.18 |
0.26 |
hCV1011744 |
AAAGGGGAGTGAAGAGGTATGAGCGGATGATCCTTTCCAT[A/G]TGAATTGAGGTGGAAATACGAGGGTGGGGTAGAAAATCCT |
A |
A |
C_____16718_10 |
|
|
|
|
|
19 |
43255472 |
0.13 |
0.15 |
0.07 |
0.23 |
hCV16718 |
GATACATCACTGGTTGCCTGCTCTTCTAACAGACCCTGAT[A/G]CGTCCCCACTGGCCCAGAGGCAATCAGGATGGCTACAGAT |
A |
A |
C___8710119_10 |
rs1725461 |
|
|
|
|
19 |
43261478 |
0.13 |
0.17 |
0.07 |
0.18 |
hCV8710119 |
TCCCCAGGGGCCTGCAAATCAGGAGGTACTTACACCTCCA[A/G]TTAGGCAGAGGCCATCTGTTCACTCATATGTATAATACTA |
G |
G |
C___8710097_10 |
rs941040 |
|
|
|
|
19 |
43270154 |
0.13 |
0.16 |
0.07 |
0.22 |
hCV8710097 |
TAGAAAAAAAGAGGAGGCAGCTGTCAGGTAGACGAGGGAG[C/G]AGGAGGTGTGTCCCATGCCTGGCTAAAGCCTCTGTTACCC |
G |
G |
C___8710074_1_ |
|
|
|
|
|
19 |
43276037 |
0.41 |
0.13 |
0.32 |
0.37 |
hCV8710074 |
ATTATGATCGGCACCACTGTTGCAGCCGATGTTCCTTCCC[A/G]GGAGGTCAGAGCCCCGTGCTGGGAAGCATAGGTTGAGCTC |
A |
A |
C__11527990_10 |
|
|
|
|
|
19 |
43278629 |
0.27 |
0.23 |
0.34 |
0.45 |
hCV11527990 |
ACATGCCTCTCGCCCAGGTGCTCTTTGGTGAGGGTGGGTT[T/G]TGTGCTTAGAGGCGAAGTCATGACATGTTATTTTTGCCAC |
G |
T |
C__11527970_10 |
|
|
|
|
|
19 |
43296428 |
0.38 |
0.41 |
0.34 |
0.48 |
hCV11527970 |
TGTTTCAAGTGTGCAATTTCCGAATGGCCACCCGCATCAT[C/T]CCTGCAGCCTGTGGACTCTCAAAACCCAGTCCCTCCTGCT |
C |
C |
C__25630341_10 |
|
|
|
|
|
19 |
43302382 |
0.13 |
0.14 |
0.04 |
0.17 |
hCV25630341 |
GAGATAGTGCAGAGACTGAAGGTAAGGGAGAGAGCCCGGC[G/A]ATAGGGCGGCGATTTGTATGGTTTCGGCCTCAGGAACCAC |
A |
A |
C___8709996_10 |
rs855614 |
|
|
|
|
19 |
43311582 |
0.45 |
0.13 |
0.29 |
0.29 |
hCV8709996 |
GGCATTCTTGACAACTTGCTTAATAGCCATGGCTGGTTAC[A/G]TTCATCTTGTTTTTATCCCAAGAAGAGGGGATCGCTTAAC |
A |
A |
C___2380099_10 |
rs332848 |
|
|
|
|
19 |
43334714 |
0.43 |
0.09 |
0.29 |
0.28 |
hCV2380099 |
TCAGCCAGGTGTCCCAAGTCACCATGTGTCAGGAATCAAA[C/T]CCCTGCCTAAACACTGGACATGACGGGGCATCCTTCAGTC |
T |
T |
C___2825849_10 |
|
|
|
|
|
19 |
43354721 |
0.2 |
0.01 |
0.17 |
0.17 |
hCV2825849 |
TGCAGGCCCAGGGCAGAGCCAGCAAGCCATGTGAGAGTCC[T/A]GGGTGGCTGCCACGTGTCTGGAGGCTGCCGTGGCCTGGGA |
T |
T |
C__11464370_10 |
rs1975166 |
|
D4,
zinc and double PHD fingers family 1 |
DPF1 |
|
19 |
43381846 |
|
|
0.19 |
0.42 |
hCV11464370 |
CATCAGCGGTTGTAGTGTTGTTTGCGGAAGACAGAGCTGC[A/C]CAGACACTGACCACTCCCCCGCAACCGTGGGCCACAGGAA |
C |
C |
C___7822209_1_ |
rs2278431 |
IMS-JST025714 |
D4,
zinc and double PHD fingers family 1 |
DPF1 |
Intron |
19 |
43398829 |
|
|
0.2 |
0.27 |
hCV7822209 |
|
G |
G |
C___7822203_1_ |
rs2255456 |
IMS-JST040299 |
D4,
zinc and double PHD fingers family 1 |
DPF1 |
Intron |
19 |
43401408 |
0.43 |
0.09 |
0.07 |
0.09 |
hCV7822203 |
GAGACGAAGCCATGCAGCGGGGGTCCCCCAGAGGTGGGCC[C/T]ACCTGACAGTCCATAATGGTCTCCTCCTCCTTCAGCTCAA |
C |
C |
C__15973795_10 |
rs2304177 |
|
similar
to putative transmembrane protein; homolog of yeast Golgi membrane protein
Yif1p (Yip1p-interacting factor) |
LOC90522 |
|
19 |
43486999 |
0.13 |
0.12 |
0.11 |
0.18 |
hCV15973795 |
CCGGGTCCAAAGGTAAGTCGCCTCATCACCGGCTGCGGAG[G/A]GGCGGGAAGGCTGGGGTTGCCCCTGACCCCAGGGTCCTGC |
A |
A |
C___1455346_10 |
|
|
similar
to putative transmembrane protein; homolog of yeast Golgi membrane protein
Yif1p (Yip1p-interacting factor) |
LOC90522 |
Silent
Mutation |
19 |
43489926 |
0.21 |
0.27 |
0.5 |
0.44 |
hCV1455346 |
ACCAGCCCCGAGCCCAGCTCACCATGAACACAAAGATGGC[C/T]ACGCAGCACCAGCCCAGCACCAGGTAGTAGCCAATCTTCC |
C |
T |
C___1455347_10 |
|
|
similar
to putative transmembrane protein; homolog of yeast Golgi membrane protein
Yif1p (Yip1p-interacting factor) |
LOC90522 |
Silent
Mutation |
19 |
43492005 |
0.17 |
0.26 |
0.18 |
0.28 |
hCV1455347 |
GGAAGGCTGCATGGGGCGTGGGAGAGGCTGCAGGATAACT[T/C]AGGCCACCAGGTGCCCGCTGGGCCCCATAGCCCCGGCTCT |
T |
T |
C___2942057_1_ |
rs3745951 |
|
potassium
channel, subfamily K, member 6|chromosome 19 open reading frame
15|hypothetical protein DKFZp434A1022 |
KCNK6|C19orf15|DKFZP434A1022 |
Silent
Mutation |
19 |
43509326 |
|
|
0.09 |
0.17 |
hCV2942057 |
TCGTAGTGACCGTCTGCTTTCTGGTGCCGGCTGTGATCTT[C/T]GCCCACCTCGAGGAGGCCTGGAGCTTCTTGGATGCCTTCT |
C |
C |
C___8709898_10 |
rs931749 |
|
potassium
channel, subfamily K, member 6|chromosome 19 open reading frame
15|hypothetical protein DKFZp434A1022 |
KCNK6|C19orf15|DKFZP434A1022 |
UTR
3 |
19 |
43510765 |
0.14 |
0.13 |
0.06 |
0.18 |
hCV8709898 |
GGAGCAGGACCCATGGAGGGACCCCTGGTGTAGGCCTGGG[C/T]GATAGACTCTTCCTCAGCAGCCTGGCAGGCAGGAAACAGA |
T |
T |
C____121093_10 |
|
|
chromosome
19 open reading frame 15|hypothetical protein DKFZp434A1022 |
C19orf15|DKFZP434A1022 |
Intron |
19 |
43541155 |
0.07 |
0.13 |
0.24 |
0.24 |
hCV121093 |
AAGCCCAGGCTAGGCAAGTCTCACCAAGCCTTCAAAGGAT[A/G]CACAAATCCAGAAGTTACCAGGACTGTGATGAGGAACACA |
A |
A |
C___2592333_1_ |
rs2286476 |
IMS-JST037036 |
chromosome
19 open reading frame 15|hypothetical protein DKFZp434A1022 |
C19orf15|DKFZP434A1022 |
Intron |
19 |
43542599 |
0.21 |
0.29 |
0.49 |
0.38 |
hCV2592333 |
TGGGGGTGGGCATCAGTGCAGAGATGGGAAACTGAGGCCA[A/G]GGAAATGGTGAGACCCTGGAAGCTGCAAAGAGTGAGAAGA |
G |
G |
C___3275640_1_ |
rs3745955 |
|
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 8|chromosome 19 open reading
frame 15|hypothetical protein DKFZp434A1022 |
PSMD8|C19orf15|DKFZP434A1022 |
Intron |
19 |
43549902 |
|
|
0.15 |
0.14 |
hCV3275640 |
CCCATTCCTCTCCCCGCAGACTACCCACCCTTTTTCCTGC[A/G]GCATCTCACTTTCCCCCGTCTCGGTCCTCAGCTTCTCGGG |
A |
A |
C___2596922_10 |
|
|
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 8|chromosome 19 open reading
frame 15|gametogenetin|hypothetical protein DKFZp434A1022|hypothetical
protein FLJ35713 |
PSMD8|C19orf15|GGN|DKFZP434A1022|FLJ35713 |
Intron |
19 |
43557476 |
0.06 |
0.01 |
0.24 |
0.26 |
hCV2596922 |
CTCAAGGTAAAGTCGGCAGGCCCAGGAAACCGAGTGTTGC[G/C]GGCGTGGGAGGCGCTACGAGGTGTCTGGACCCAACCAAGT |
C |
C |
C__16165321_10 |
rs2074981 |
IMS-JST002254 |
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 8|gametogenetin|hypothetical
protein FLJ35713 |
PSMD8|GGN|FLJ35713 |
Intron |
19 |
43564175 |
0.08 |
0.21 |
0.27 |
0.27 |
hCV16165321 |
TTTTCCCCAGAGCTTACCCCCTCCCTCACTACAGTGACTT[C/A]ATGCCTTGCTCTATTTCTACTTCGGTGTTGTTCGTGGTGC |
#N/A |
#N/A |
C___8709885_10 |
|
|
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 8|gametogenetin|hypothetical
protein FLJ35713 |
PSMD8|GGN|FLJ35713 |
Silent
Mutation |
19 |
43564618 |
0.09 |
0.04 |
0 |
0.11 |
hCV8709885 |
GCTTCTCATCTTCCCCCAGGGATGAGATCGCTGGGTGCAT[C/T]GAGAAGGCCTACGAGAAAATCCTTTTCACTGAGGCCACCC |
T |
T |
C__11708609_10 |
|
|
proteasome
(prosome, macropain) 26S subunit, non-ATPase, 8|gametogenetin|hypothetical
protein FLJ35713 |
PSMD8|GGN|FLJ35713 |
|
19 |
43574621 |
0.12 |
0.27 |
0.49 |
0.47 |
hCV11708609 |
CGCACTGGGTCGAGGTGAGCAGCCCAGGTGATGTGCACTG[T/G]GGGCTGGCCTGGGAGCGGGAGGAGAAGCTGGGCTCAAGGA |
T |
T |
C___2596929_1_ |
rs3745962 |
|
RAS
guanyl releasing protein 4|hypothetical protein LOC147965 |
RASGRP4|LOC147965 |
Mis-sense
Mutation |
19 |
43588084 |
|
|
0.16 |
0.16 |
hCV2596929 |
TGCCGCCGCTGCCTCCTCCTCAAGCGCCTTGACCTCACTA[A/C]ATCTGCTTTCCACTGGAGTGACCGGGCAGAGGTGTGGTGG |
A |
A |
C___7821854_10 |
rs892055 |
|
RAS
guanyl releasing protein 4 |
RASGRP4 |
Mis-sense
Mutation |
19 |
43604604 |
0.39 |
0.41 |
0.45 |
0.48 |
hCV7821854 |
CTTGTGGCGGCGCACTTGGCGGGGCCGGCCTCGCCCTCCT[G/A]TTTTTCCGGTGCATTCCTGGTGGGACTTCCTGTGGGCACA |
G |
A |
C___7821834_10 |
|
|
RAS
guanyl releasing protein 4|ryanodine receptor 1 (skeletal) |
RASGRP4|RYR1 |
|
19 |
43609091 |
|
|
0.3 |
0.19 |
hCV7821834 |
TATATTTCTTCATAGGCGTCTCTTATTCCTAGTTTAAGTG[G/A]TACCATTTGTACCCTGGAAAACATTTTCACTTTCTGACTT |
G |
G |
C__15973723_10 |
rs2304145 |
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43623418 |
|
|
0.09 |
0.06 |
hCV15973723 |
GGGCGTCTGAAGGGGCAGAGAATCTTGGGTCCAAAGAAGA[G/C]GGTTCTGGGAGTCTGAAAGGAGGTGCTGACAGGAGAGAAA |
#N/A |
#N/A |
C__25630401_10 |
|
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43625890 |
|
|
0.04 |
0.06 |
hCV25630401 |
CTGCTTCCGTGAATGGGGAAACTGAGGCAGAGAGTCCTGC[A/G]GGAGTCTGAGCTGAGGCTGTTTTACCTCTAGGCCTGAGCA |
G |
G |
C__22274155_10 |
rs2288889 |
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43638055 |
0.34 |
0.44 |
0.42 |
0.35 |
hCV22274155 |
AGGCCTCATCTGGTAGGAGAACCCGGGGGAGTGGGACAGA[G/C]GCTTGTGGGAGGGGATGGGCATGGCCGCTTCACCTCTCAT |
G |
G |
C___7821747_10 |
|
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Silent
Mutation |
19 |
43651520 |
0.31 |
0.46 |
0.5 |
0.39 |
hCV7821747 |
GGCGCCCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGAT[T/C]GACCTCACAGAGAACACCATTATCTTCACCCTCAATGGCG |
C |
T |
C__22275385_10 |
|
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43660780 |
|
|
0.08 |
0.03 |
hCV22275385 |
AGCTCCGAAGAGCTCAGTGTCCGGGGCGAGGGGTTTCAGC[T/G]CTCAGGTCTGCAGGCGGTGGGTGTTTGGGGATGGGACTCT |
G |
G |
C___7821672_10 |
|
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43685478 |
0.26 |
0.48 |
0.27 |
0.38 |
hCV7821672 |
GATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTC[A/G]TTTCCAGGCCGCACCCACTGGTTTGCTCTTCCCTCCTACT |
G |
G |
C___7821647_1_ |
|
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43688480 |
|
|
0.32 |
0.35 |
hCV7821647 |
CTGGGTGGAGGGCAGGGGCATGAGGGGGGGAGGGTCTAGA[A/G]CAAGGGGCATGGCCAGACAGGGAAGGGATGGAGAGGAGAG |
G |
G |
C___7821567_10 |
rs2915942 |
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43697777 |
0.13 |
0.11 |
0.14 |
0.13 |
hCV7821567 |
TGAGGGCGCTCAGGGACAGGTCAGCCACGGAGGTAGAGCC[G/T]CCAGGTCTGGGGCTGTGAAGCAGGCAGGCCTCGCTGGGGA |
T |
T |
C___1722523_1_ |
rs2071090 |
IMS-JST006394 |
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43707294 |
0.08 |
0.13 |
0.19 |
0.2 |
hCV1722523 |
TTGTGGACCTGCATCTTTGTTTCATTCTTGAGAACTTGGT[T/C]TTGGGATGTGAAGTGTGGGGTTGTGCATGCTGTGGAGGGG |
C |
C |
C__16240336_10 |
rs2254484 |
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43709218 |
0.18 |
0.45 |
0.31 |
0.27 |
hCV16240336 |
TGGCCATATTTGACCTTTGATGAGATCCTCTTGTCACCCT[C/T]TGCCTCTTCCCAGACCTCCACGAGGCCCCTCGAATCCTTA |
#N/A |
#N/A |
C____488523_10 |
rs2960339 |
|
ryanodine
receptor 1 (skeletal) |
RYR1 |
Intron |
19 |
43745531 |
0.3 |
0.49 |
0.47 |
0.4 |
hCV488523 |
TCTGCAGGAAGCCCCTGTTCACCACGGCCCTTCCCACTCA[C/T]TCTTTGCACGTGCTGGGGGAGCTCTGCCCTCCTCTCTTCC |
T |
C |
C__16182612_10 |
rs2287737 |
|
mitogen-activated
protein kinase kinase kinase kinase 1|ryanodine receptor 1 (skeletal) |
MAP4K1|RYR1 |
Intron |
19 |
43778080 |
0 |
0.06 |
0.06 |
0.07 |
hCV16182612 |
GGAGAAAGCAATGCCCGTTACCCTTGGGGATCACTTGAGT[C/T]TCCACCCCTGATCCTGGGCTCTCCCGTCCCTGCACAGACC |
C |
C |
C___2884635_10 |
rs2303041 |
IMS-JST059579 |
eukaryotic
translation initiation factor 3 subunit k|mitogen-activated protein kinase
kinase kinase kinase 1|actinin, alpha 4 |
eIF3k|MAP4K1|ACTN4 |
Intron |
19 |
43798764 |
0 |
0.12 |
0.49 |
0.38 |
hCV2884635 |
CCAGAGTTTCTGCAACCTGCAGTGGTTCAAGAGTAAGAAT[A/G]ATAATAGCAGTAAATACATTATTATTTGCAGGAAAGCCCC |
#N/A |
#N/A |
C___2884625_10 |
rs3786834 |
|
eukaryotic
translation initiation factor 3 subunit k|actinin, alpha 4 |
eIF3k|ACTN4 |
Intron |
19 |
43818306 |
0.15 |
0.48 |
0.46 |
0.31 |
hCV2884625 |
GCTCAACTAAAAAGATTGCAGTGGCTACTCCGGCAGCGGG[T/G]GCTGCTTCACTGCCGCTCATCATGGCACTGAGCAGATGTC |
T |
T |
C___2960934_10 |
|
|
actinin,
alpha 4|eukaryotic translation initiation factor 3 subunit k |
ACTN4|eIF3k |
Intron |
19 |
43854070 |
0.22 |
0.37 |
0.43 |
0.19 |
hCV2960934 |
CTTTGTAAATGGAAAAGCCTGAATGCAGCGTTTCTTATTG[C/A]TAGGAGAGTTGATGGATTTCAGGAAAATGGGATATAGTAG |
A |
A |
C___2960928_10 |
|
|
actinin,
alpha 4|eukaryotic translation initiation factor 3 subunit k |
ACTN4|eIF3k |
Intron |
19 |
43859200 |
0.4 |
0.46 |
0.43 |
0.19 |
hCV2960928 |
GAGTAGGAGCTTTTCATCTCAGGAAGCCCTGAGGTCCCAC[G/A]GCTTCTCCTGAAGCAGCCTCATTGTCCCTTTGTAAGAGCA |
A |
A |
C___2960875_10 |
rs2287729 |
|
actinin,
alpha 4|eukaryotic translation initiation factor 3 subunit k |
ACTN4|eIF3k |
Intron |
19 |
43887154 |
0.48 |
0.35 |
0.42 |
0.37 |
hCV2960875 |
|
#N/A |
#N/A |
C__11507800_1_ |
rs3745859 |
|
actinin,
alpha 4|eukaryotic translation initiation factor 3 subunit k |
ACTN4|eIF3k |
Silent
Mutation |
19 |
43888585 |
0.48 |
0.32 |
0.41 |
0.36 |
hCV11507800 |
TCCTTCTCTGGTGCCAGAGAAAGACAGCCCCGTATAAGAA[T/C]GTCAATGTGCAGAACTTCCACATCAGGTAAGCGCCAGTCC |
T |
C |
C___8709773_10 |
|
|
actinin,
alpha 4|eukaryotic translation initiation factor 3 subunit k |
ACTN4|eIF3k |
Intron |
19 |
43901728 |
0.21 |
0.4 |
0.41 |
0.21 |
hCV8709773 |
TGGGAGAGCCACAAGAGCCACTCACAGGACTCCTCTCCCA[C/G]TCTGGCCACCACCTTCCCAACACAGTCTCCCTGGCCCTCC |
C |
C |
C___1150252_10 |
rs1564203 |
|
actinin,
alpha 4|calpain 12|eukaryotic translation initiation factor 3 subunit k |
ACTN4|CAPN12|eIF3k |
Intron |
19 |
43902801 |
0.2 |
0.39 |
0.4 |
0.21 |
hCV1150252 |
CTCCAGTTGTCCCTTGGCCTGGATCCCAGATAGCTGTGGC[A/G]ATGGTCCGCTGCCCACATCCTCTCGGTGCACCCTTGCCAG |
A |
A |
C___1150216_10 |
rs936524 |
|
calpain
12 |
CAPN12 |
Silent
Mutation |
19 |
43924986 |
0.21 |
0.33 |
0.41 |
0.22 |
hCV1150216 |
CCCGGCGCAGGAGCCGGGGATACAGAGTAAGGGAGGCGGC[G/A]GCTGCAAGGAACCAGCAGTTACCTGGGAGGAGAGGCCAGG |
A |
A |
C___1150165_10 |
|
|
lectin,
galactoside-binding, soluble, 7 (galectin 7) |
LGALS7 |
|
19 |
43951414 |
0.3 |
0.42 |
0.26 |
0.39 |
hCV1150165 |
GGGAATGCTGCTGGGACTCACGTTCCTAAGCCATGAAAAC[G/C]GTCCAGTGGGTGGAGGGTGCTACCATTTATGCATGGAGGG |
G |
G |
C___2886268_1_ |
rs2075588 |
|
enoyl
Coenzyme A hydratase 1, peroxisomal|lectin, galactoside-binding, soluble, 4
(galectin 4) |
ECH1|LGALS4 |
Intron |
19 |
43998265 |
|
|
0.34 |
0.32 |
hCV2886268 |
GAGGAGAGAGATTAGCAGGGGCCAATCAGGATAAAGCATG[A/C]GAGCACCCTGCACCCTGGTTGGTCGCCTGGGGTTAGAGGA |
C |
C |
C___2886267_1_ |
rs2075587 |
|
enoyl
Coenzyme A hydratase 1, peroxisomal|lectin, galactoside-binding, soluble, 4
(galectin 4) |
ECH1|LGALS4 |
Intron |
19 |
43998643 |
|
|
0.33 |
0.33 |
hCV2886267 |
CCAATCAGAGCAGGGGGCTGACCCCACAATAAAGAAATGA[G/C]CTCACCAAGAAAGGATGCCACTAGGAATTCTAGAGCGAGG |
C |
C |
C___2886254_1_ |
|
|
enoyl
Coenzyme A hydratase 1, peroxisomal|heterogeneous nuclear ribonucleoprotein L |
ECH1|HNRPL |
Mis-sense
Mutation |
19 |
44013927 |
|
|
0.18 |
0.31 |
hCV2886254 |
GCTGTGGTCTGGGGCTTCACCGAGGGCTACTCCGGAAGCC[G/T]CCTCTTGTGCAGAGGAGCCAGTGAGGCGAAGGCTAATACT |
G |
G |
C___2886248_1_ |
rs2278009 |
|
enoyl
Coenzyme A hydratase 1, peroxisomal|heterogeneous nuclear ribonucleoprotein L |
ECH1|HNRPL |
Intron |
19 |
44019696 |
|
|
0.38 |
0.4 |
hCV2886248 |
GCAGAGTGAGTGGCAGCAGGCAGTCAGGCTGGCTCTCCCA[A/T]GAGGAGCACAGGCTGCTCTCCTGATGAGCAGGTCCCACCT |
T |
T |
C___2886247_1_ |
rs2278010 |
|
enoyl
Coenzyme A hydratase 1, peroxisomal|heterogeneous nuclear ribonucleoprotein L |
ECH1|HNRPL |
Intron |
19 |
44019985 |
|
|
0.18 |
0.25 |
hCV2886247 |
AGGAGCTGCGCTCACCTGATTGCAAACCAAGGGGAAAAGT[C/A]AAGGTTTTAGACTCACCCAATAGGAACTAGGCAGCTGCCC |
C |
C |
C__15964350_10 |
rs2278011 |
IMS-JST025140 |
heterogeneous
nuclear ribonucleoprotein L |
HNRPL |
Intron |
19 |
44026651 |
0.28 |
0.43 |
0.38 |
0.38 |
hCV15964350 |
CACAGGAGATCTTTGAGAAGGGCTTCAAGTTACCCCAGAG[A/T]GTGATAAGGACAAGGTAGCACCCCAAGACTGTGGTACAGA |
#N/A |
#N/A |
C___2886243_1_ |
rs862454 |
|
heterogeneous
nuclear ribonucleoprotein L |
HNRPL |
Intron |
19 |
44029965 |
|
|
0.18 |
0.26 |
hCV2886243 |
AAGCAAAAACAAGAATTATTTTCTTGCTGTACAAGATGAC[A/G]CCCCACTGGCCTCTGTGCTGTTGTAGACCCAGTCAGATAA |
A |
A |
C___8716021_10 |
rs1001413 |
|
sirtuin
(silent mating type information regulation 2 homolog) 2 (S.
cerevisiae)|FLJ45909 protein |
SIRT2|FLJ45909 |
UTR
5 |
19 |
44058951 |
0.32 |
0.35 |
0.35 |
0.25 |
hCV8716021 |
AGGGTGCTGAGGACCCCTAGAGGGGTCCTGTCTGCTTTGT[T/C]CACCTGTGGTGGGACCAGCCTGGGATGGACAGTGTCCAGG |
T |
T |
C___8716025_10 |
rs892034 |
|
sirtuin
(silent mating type information regulation 2 homolog) 2 (S.
cerevisiae)|FLJ45909 protein |
SIRT2|FLJ45909 |
|
19 |
44060838 |
0.37 |
0.1 |
0.14 |
0.17 |
hCV8716025 |
GAAGTCAACTTTCCTCCCTCTTTCTGGGGCCTCAGGCCTT[C/T]AGTGACGGGGCTTAGAGGAAGGGACACTGGCAGGCTGGGA |
T |
T |
C____104093_1_ |
rs2015 |
|
sirtuin
(silent mating type information regulation 2 homolog) 2 (S.
cerevisiae)|FLJ45909 protein |
SIRT2|FLJ45909 |
UTR
3 |
19 |
44061209 |
|
|
0.45 |
0.47 |
hCV104093 |
CCCTCCCGGCTCAGACTCCCCCTACGCTGGGTGTGGGTTA[T/G]ATTCAGAGGCCCACACCCACACTGGGGTAGGTTAGGTATG |
G |
G |
C_____35411_1_ |
rs2304118 |
|
F-box
only protein 26 |
FBXO26 |
Silent
Mutation|UTR 5 |
19 |
44132806 |
0.4 |
0.42 |
0.38 |
0.41 |
hCV35411 |
CCGGCAGCCGTCGCCGCGATAGCCGGGCGCCCATCTCCAG[C/T]AGCCAGAGTCCTGCAGGTCGAGAGGGGTCGGTAGGCGGGT |
T |
T |
C___1641333_10 |
|
|
F-box
only protein 26 |
FBXO26 |
Intron |
19 |
44157852 |
0.38 |
0.28 |
0.31 |
0.26 |
hCV1641333 |
ACACCCACGTTCAAAGCAAAGCCCTTCCAGATTTAGGGCT[T/A]TCTAACGTGCATTTGTATAACTTTGGGTTTAAAGGAGCCT |
A |
A |
C___1641327_10 |
|
|
F-box
only protein 26 |
FBXO26 |
|
19 |
44162411 |
0.47 |
0.17 |
0.38 |
0.34 |
hCV1641327 |
TACCTTGTGCAGTGCATTGCCTGGGCCCATCATCCATAAC[C/G]TTAATATCCTGGCTTGTGGTTATCTGTGGTGGTGATAGTG |
C |
C |
C____788271_1_ |
|
|
F-box
only protein 27 |
FBXO27 |
UTR
3 |
19 |
44207779 |
0.11 |
0.04 |
0.09 |
0.16 |
hCV788271 |
GACAGGGCCCGTCAGGGCCTTTGATTGGACCCAGGAATTC[T/C]CAGTATGCCAGGGAGGTACAAGTGCTTGGTTGGTTAATGA |
T |
T |
C___3049522_10 |
|
|
F-box
only protein 27 |
FBXO27 |
Intron |
19 |
44209801 |
0.46 |
0.45 |
0.49 |
0.49 |
hCV3049522 |
ATGTGACTTTCGGTGGGGGCTGGGAGTCAGGGAACGTCAG[C/T]TGACCTGGAGGCTGAGATTAACCACGTGGGCAATCGATCA |
C |
C |
C__11710240_10 |
|
|
p21(CDKN1A)-activated
kinase 4 |
PAK4 |
|
19 |
44303420 |
0.26 |
0.07 |
0.41 |
0.29 |
hCV11710240 |
TTTTTCTCTTATTGATCTGCAGATGTTCTTTACATATGAA[G/A]GACAGAAAGCTTTTCTTGCCATCCATATGTCACAACTTAT |
G |
G |
C___1641412_10 |
rs879689 |
|
p21(CDKN1A)-activated
kinase 4 |
PAK4 |
Intron |
19 |
44342670 |
0.42 |
0.15 |
0.33 |
0.34 |
hCV1641412 |
CCCATTTTCTCCCCAGGCGTCAAGGTCAGACTTCCAGGGA[A/G]TGAGTGTACGAGGCCCAGGGACTTGTGTCTGTCTCGGCCC |
A |
A |
C___1641427_10 |
|
|
p21(CDKN1A)-activated
kinase 4 |
PAK4 |
Intron |
19 |
44353228 |
0.38 |
0.22 |
0.19 |
0.24 |
hCV1641427 |
CAAGGCCCACAAGTTGGCCATAGACACAAGTGCAGCCTCA[G/A]TGTGGTAGCCCACTGAGGGGTCCGTGTGGTCCTTGCAGGG |
A |
A |
C___9063396_10 |
|
|
p21(CDKN1A)-activated
kinase 4 |
PAK4 |
|
19 |
44370494 |
0.49 |
0.43 |
0.27 |
0.45 |
hCV9063396 |
GAATGGGGTGTGATAGAGAATAGCAGGGAAGGGGAATTTA[T/C]CTGGCCTGGGGATGGCCCAGCTCTCTTTCTTTGTACCAGT |
C |
C |
C___7816162_10 |
|
|
|
|
|
19 |
44375463 |
0.34 |
0.2 |
0.43 |
0.49 |
hCV7816162 |
GCCCTGAGATGCAAGAGAACAGGTCCTGGAGGCAGAGACC[A/G]GAAACCCAGGACCTTGGATGCTGGCCAAAGAGATGGGATT |
G |
A |
C__11710129_10 |
|
|
|
|
|
19 |
44389814 |
0.44 |
0.48 |
0.46 |
0.47 |
hCV11710129 |
CATCACAACAACATAACACCAACAATTTGCTGTTATCCAC[A/G]GTCACTCAGCTAAACCTATGCCCTGCTGGTCCTCCTTAGA |
A |
A |
C___1309114_10 |
rs3786949 |
|
glia
maturation factor, gamma|hypothetical protein FLJ10211 |
GMFG|FLJ10211 |
|
19 |
44518319 |
0.05 |
0.24 |
0 |
0.1 |
hCV1309114 |
AGCCTAAACCCAGAGCCACTGTCTCTCTGTTCTTCCAGCC[A/G]GGCTGTTCACCACAGTTGGGCCCCCTTCCCGGCCCGTGAC |
A |
A |
C___1309110_10 |
rs30458 |
|
glia
maturation factor, gamma|hypothetical protein FLJ10211 |
GMFG|FLJ10211 |
|
19 |
44527338 |
0.1 |
0.27 |
0 |
0.12 |
hCV1309110 |
TTTTTCTTAGGTGCCATGCTCATAGACCCCTCTTCCCTTC[A/G]GAGATCAAGAGACCCTTAACACCCTCCTTAGAGACTTAGG |
G |
G |
C___8709367_10 |
rs1375910 |
|
hypothetical
protein FLJ10211 |
FLJ10211 |
|
19 |
44542822 |
0.03 |
0.08 |
0 |
0.09 |
hCV8709367 |
GGATATTGGTGGTAATGCCTAGCCAGGGTTGAGAAGTGCT[A/G]TGAAATGAATTGAATGATGAATGAATATATGAATCAAGGT |
A |
A |
C___8709357_10 |
rs36270 |
|
hypothetical
protein F23149_1|hypothetical protein FLJ10211 |
PD2|FLJ10211 |
|
19 |
44566785 |
|
|
0.01 |
0.14 |
hCV8709357 |
CTTTATGAGGGGAGAGGGCAGAGCCCCCTCCTCCAGACCC[C/T]CAAGCTCTAACCCATTTTCCTCCAGCCCTGGCTACCCGGA |
C |
C |
C___8709355_10 |
rs1629174 |
|
hypothetical
protein F23149_1 |
PD2 |
|
19 |
44578058 |
|
|
0 |
0.11 |
hCV8709355 |
TGTGCAGGGCTTTGTATACGGGCCACAGGACCGGTGTGCT[A/G]GAAGGAGATAAAGTTTCTAGGATGAGGCCCAGGACTCTGG |
A |
A |
C___1309083_10 |
|
|
hypothetical
protein F23149_1|zinc finger protein 36, C3H type, homolog (mouse) |
PD2|ZFP36 |
|
19 |
44597329 |
0.06 |
0.12 |
0.13 |
0.23 |
hCV1309083 |
CAGAGAGGACCCTGATGGGAGAGGATGGGACTGGACCAAG[A/T]CAGGGCAGTGGGGAGAGGAGGAAGGAGCCTGTGGGAAAGC |
T |
T |
C___1309086_1_ |
|
|
ribosomal
protein S16 |
RPS16 |
|
19 |
44606588 |
0.42 |
0.41 |
0.36 |
0.4 |
hCV1309086 |
GAAATCCAAGTTCCAGCCACCACTCCTTTGCCTGAGCATA[A/G]AAGTCACATGGTTATACCAGCTCCATCCACCGCCTTTTGT |
G |
G |
C___1309091_10 |
rs566130 |
|
ribosomal
protein S16 |
RPS16 |
Intron |
19 |
44615969 |
0.48 |
0.22 |
0.38 |
0.49 |
hCV1309091 |
|
#N/A |
#N/A |
C__11709965_1_ |
rs1865092 |
IMS-JST025723 |
ribosomal
protein S16|suppressor of Ty 5 homolog (S. cerevisiae) |
RPS16|SUPT5H |
|
19 |
44627857 |
0.48 |
0.28 |
0.38 |
0.48 |
hCV11709965 |
TTCCGGACTAACGAACAAACGGCTCACTAAATTCAAACAT[A/G]AGTTTCAGCCTGGTCGCCGAGCCGGCGGGTAGAAAAAACC |
G |
G |
C___7820177_1_ |
rs1932 |
IMS-JST025725 |
ribosomal
protein S16|suppressor of Ty 5 homolog (S. cerevisiae) |
RPS16|SUPT5H |
UTR
5 |
19 |
44628342 |
|
|
0.38 |
0.48 |
hCV7820177 |
GAGGCTCGGGGTGGAGCGCAGGATTGTGGGACGCGCCAAG[G/A]CTGCTGTCTTTCCCAGCAGCAGCGGAAGATGTCGGACAGC |
G |
G |
C__11709944_10 |
|
|
suppressor
of Ty 5 homolog (S. cerevisiae) |
SUPT5H |
Intron |
19 |
44652185 |
0.21 |
0.1 |
0.12 |
0.08 |
hCV11709944 |
GTTGAGAGTGTGATTAACCAAGGAGTAATCTGAGGCTTGA[C/T]TTTGTTTGCTTAGAGCGGGGTGTGTGTTTGTCTGTGTCTG |
T |
T |
C__11709938_10 |
|
|
suppressor
of Ty 5 homolog (S. cerevisiae) |
SUPT5H |
Intron |
19 |
44658143 |
0.21 |
0.1 |
0.12 |
0.08 |
hCV11709938 |
CTGTGGGGAAGAGGCAGGAGGCAGGTGGGAGAGACCCTCA[C/T]GGGCTGAATGGCCAGGCCTCAGAGCTAGGGGCTTGTTGGT |
T |
T |
C__15880089_10 |
rs2288933 |
|
suppressor
of Ty 5 homolog (S. cerevisiae) |
SUPT5H |
|
19 |
44664103 |
0.48 |
0.26 |
0.38 |
0.49 |
hCV15880089 |
|
#N/A |
#N/A |
C___7820033_1_ |
rs2288934 |
IMS-JST040328 |
suppressor
of Ty 5 homolog (S. cerevisiae) |
SUPT5H |
|
19 |
44665943 |
0.48 |
0.2 |
0.38 |
0.48 |
hCV7820033 |
CCAGACACATGGGTTCCTGTGCCTTAGACCAAGCATCTGC[G/A]GTTCCCAACTCCTTCCCCATCCCCCTCGAGCCCCTACCCC |
G |
G |
C___2585644_10 |
|
|
placental
protein 13 |
PP13 |
|
19 |
44780321 |
0.26 |
0.31 |
0.24 |
0.15 |
hCV2585644 |
CCTTTTGCCTCATAGCACTCTGAGAAGCAAGAGGGGTCAC[C/A]AGCAGCTCTACTAGAGCCACTTATGAAAATTCAGCCTGGG |
A |
A |
C___2659027_10 |
rs3810398 |
|
placental
protein 13-like protein |
PPL13 |
|
19 |
44879183 |
0.31 |
0.26 |
0.13 |
0.26 |
hCV2659027 |
AGCCACACAAGTGTACCTCAGGGAAGAAATTTGGTAACTT[T/G]AGGACAATCTGGTGGAATTTCCTAATTCCTTCCATTGTTC |
T |
T |
C___2659038_1_ |
rs4830 |
|
placental
protein 13-like protein |
PPL13 |
Mis-sense
Mutation |
19 |
44889764 |
0.4 |
0.25 |
0.22 |
0.38 |
hCV2659038 |
ATTCCGACTGCACTTTGGTCATCCTGCAATCATGAACAGT[T/C]GTGTGTTTGGCATATGGAGATATGAGGAGAAATGCTACTA |
C |
C |
C___2659045_10 |
|
|
placental
protein 13-like protein |
PPL13 |
|
19 |
44894256 |
0.42 |
0.28 |
0.23 |
0.38 |
hCV2659045 |
TCATTCGTTACATTCATCTTTATTCAGCTGCTACTCTGTG[C/T]TCATAGTGGTCAGGAATTACATCTTAGATACAAAGAGATT |
C |
C |
C___2593523_10 |
rs373449 |
|
Charcot-Leyden
crystal protein |
CLC |
Intron |
19 |
44915952 |
0.42 |
0.25 |
0.24 |
0.35 |
hCV2593523 |
TAATCATGTTCCAATATAAATAGGGAAAAGTTGGCAATGA[C/A]AAAAGGGTTGATTAGAAAGCTTAATACAGTAACATTTGTG |
C |
C |
C___2593528_1_ |
rs384138 |
|
Charcot-Leyden
crystal protein |
CLC |
Silent
Mutation |
19 |
44916826 |
|
|
0.23 |
0.29 |
hCV2593528 |
AGATGCTCAGTTCAAATTCTTGGCCATCCTGAAAGGGCAT[A/G]TTCTTGGATTCCACCTGCTGCTTCCAGGCCCCATACTCAC |
G |
G |
C___8709150_10 |
rs998973 |
|
|
|
|
19 |
44965162 |
0.3 |
0.13 |
0.49 |
0.45 |
hCV8709150 |
GGGGCTGTAGGATGAGGCCACCAAAATAAGCTTATCCCAT[C/T]TGTGGCTTAAAAACATGTCCTGCTCAGTGGAAGTTGGCAC |
T |
C |
C__11467253_1_ |
rs887806 |
IMS-JST002479 |
Fc
fragment of IgG binding protein |
FCGBP |
|
19 |
45049087 |
0.16 |
0.19 |
0.13 |
0.22 |
hCV11467253 |
GGACCAAGTTTGAAATATTGAGATAAATACAAATCCAGAG[A/G]CTAAACCGCAGAGACCTGGATAAAGAAAACAGATCGCAAG |
G |
G |
C___2307171_1_ |
rs759121 |
IMS-JST002483 |
Fc
fragment of IgG binding protein |
FCGBP |
|
19 |
45049664 |
0.16 |
0.21 |
0.13 |
0.22 |
hCV2307171 |
TATGGTGGTGGGATGGATCGCAAAAATGGCCACACTGCTT[C/G]AACCCTCTGTATCCATGCAGAGTGACTTTACAGACTCCCA |
C |
C |
C__11713615_10 |
|
|
Fc
fragment of IgG binding protein |
FCGBP |
Intron |
19 |
45096473 |
0.22 |
0.36 |
0.4 |
0.42 |
hCV11713615 |
CTTGAGGCCTCTACCTTAGCCCTAGAGTGGGAGCTACTTC[T/C]TATGTTTGCTTTGGTGGTATTCTTTAGTGCTCTCTTTACC |
T |
C |
C___2767039_10 |
|
|
Fc
fragment of IgG binding protein |
FCGBP |
Intron |
19 |
45114921 |
0.4 |
0.21 |
0.47 |
0.28 |
hCV2767039 |
ATGGGGTTGGGGGGGTGCTTACTGGGCAGTGGGGACACAG[A/C]ACTGGCCAAGACAAACACCTAGTGGCCTCTATGTCTGCCC |
C |
C |
C__16166100_10 |
rs2075304 |
|
Fc
fragment of IgG binding protein |
FCGBP |
Intron |
19 |
45122110 |
0.06 |
0.09 |
0.12 |
0.2 |
hCV16166100 |
CCTCCGCCTTCGGACCCGCAGCTCATGGATGTTAACCCCC[C/G]AAAGCCCCCAGGTACTCACCAGGACGAAGCCAACTTCACC |
G |
G |
C____991771_10 |
rs234341 |
|
proteasome
(prosome, macropain) 26S subunit, ATPase, 4 |
PSMC4 |
Intron |
19 |
45177976 |
0.04 |
0.49 |
0.12 |
0.17 |
hCV991771 |
CTGGGGAAAGTTGGGGGCTGGCACCTAAGGGGTGGTTATC[G/A]TGACAGGAAGGAGGTAGGAGTGCAGAGATCTGAGCTGGCC |
A |
A |
C___2767060_10 |
rs234326 |
|
zinc
finger protein 546|hypothetical protein MGC43537 |
ZNF546|MGC43537 |
Intron |
19 |
45195360 |
|
|
0.13 |
0.16 |
hCV2767060 |
TGTCCCTAAAACAGACTCCTGGGACGACAGGTTGGAAGAC[C/T]GCGCAGTTGGAGCCGCTGTGTGGGCAGCTGCATGTTTCAG |
C |
C |
C____991752_10 |
rs183504 |
|
zinc
finger protein 546|hypothetical protein MGC43537 |
ZNF546|MGC43537 |
Intron |
19 |
45199955 |
0.02 |
0.27 |
0.12 |
0.17 |
hCV991752 |
TGGACCAATATAGTTAGTATTAGTAAGGCCTTAGTGTGCC[A/G]TCATAACTGACCATAGTTTATTTAACCTGCTGCCTACTAT |
G |
G |
C___3174571_10 |
rs337799 |
|
|
|
|
19 |
45283022 |
0.03 |
0.5 |
0.13 |
0.19 |
hCV3174571 |
CAGTGGGGGAAGGCATGAGAACTGGAAAGCATATTTGCAC[C/T]GGCAGTGTTTGCACCAAATTGCACTGACAGTGTTCAGCAT |
C |
C |
C___7831282_10 |
rs892117 |
|
mitogen-activated
protein kinase kinase kinase 10 |
MAP3K10 |
Intron |
19 |
45403173 |
0.47 |
0.15 |
0.39 |
0.36 |
hCV7831282 |
AGCCTTTGGGTCCATGCAGGGTCAAGGGAGCCTTTTTTGC[A/G]TATTAAGAAAAGACAGCCTCCTGTTGGTGGATTAATAAGA |
A |
G |
C__15973757_10 |
rs2304185 |
IMS-JST061093 |
hypothetical
protein FLJ13265|hypothetical protein FLJ30373|mitogen-activated protein
kinase kinase kinase 10|v-akt murine thymoma viral oncogene homolog 2 |
FLJ13265|FLJ30373|MAP3K10|AKT2 |
UTR
3 |
19 |
45420775 |
0.09 |
0.19 |
0.16 |
0.23 |
hCV15973757 |
TGGGGTCCTCCCACCCCATTCTCTCCCACACCCAGAAAAA[T/G]CAAGTCTAGGTGCCACCTCCTCCTCAATAATTGTCTCTCA |
G |
G |
C___8714140_10 |
rs874269 |
|
hypothetical
protein FLJ13265|hypothetical protein FLJ30373|v-akt murine thymoma viral
oncogene homolog 2 |
FLJ13265|FLJ30373|AKT2 |
Intron |
19 |
45423785 |
|
|
0.02 |
0.09 |
hCV8714140 |
TTTCCCTAGTTGTTCTATGTGTTTGCTCATCTCCCCAGAA[C/T]GAGGCCAGCATTGCAGCATCTCCAGCACCTAAAACATTTG |
T |
T |
C___7831336_10 |
rs3730055 |
|
hypothetical
protein FLJ13265|v-akt murine thymoma viral oncogene homolog 2 |
FLJ13265|AKT2 |
Intron |
19 |
45433534 |
0.05 |
0.23 |
0.02 |
0.08 |
hCV7831336 |
CTGTGGACGTTTTCAGGGGCTGTGTGGGGACGACACACTG[C/T]GACCCTACAAGCGAGCACCCTTGTGGACGCTGCCCCCTCC |
T |
T |
C___8714160_10 |
rs892119 |
|
v-akt
murine thymoma viral oncogene homolog 2 |
AKT2 |
Intron |
19 |
45451912 |
0.16 |
0.23 |
0.12 |
0.24 |
hCV8714160 |
CTGTTTCAATTTTGAAATAGATGAGTCTTTATCATCTCTT[C/T]TGATTACTAAATTGATCTTTTTAAAATGACTCTCTGGACC |
T |
T |
C___7831393_10 |
rs3730050 |
|
v-akt
murine thymoma viral oncogene homolog 2 |
AKT2 |
Intron |
19 |
45462822 |
0.36 |
0.24 |
0.27 |
0.35 |
hCV7831393 |
TGCTCTCCTGCCCAGATGACCACTGAAGGAGTCCACGAAA[T/C]GGGGGCATAAGCAGCTGTGGGCCTGGGGCTGCGGAATGCT |
T |
T |
C__11528465_10 |
|
|
v-akt
murine thymoma viral oncogene homolog 2 |
AKT2 |
Intron |
19 |
45471632 |
0.05 |
0.2 |
0.02 |
0.09 |
hCV11528465 |
CCTCCCCTGCTCAGGACCTCTCCCTAGTGCCCATGGATCA[T/C]GTCCAAGGCCCCTATGGAGGCTGCCAGGGGCCATCTGCCT |
T |
T |
C___2928537_10 |
|
|
hypothetical
protein FLJ36888 |
FLJ36888 |
|
19 |
45515811 |
0.32 |
0.24 |
0.19 |
0.32 |
hCV2928537 |
ATCACTGTCTTAAGACCTCCGCCTTGACCCTTCTCCAAAA[A/G]GGCTATGTTTCAAATCTGCTATCAAGGCAGCCCAGGTGGC |
A |
A |
C___2928496_1_ |
rs2278227 |
IMS-JST025437 |
phospholipase
D3|homeodomain interacting protein kinase 4|hypothetical protein FLJ32818 |
PLD3|HIPK4|FLJ32818 |
|
19 |
45576911 |
0.37 |
0.35 |
0.29 |
0.42 |
hCV2928496 |
GTGTGACAGCAGCCCAGGCTCCCGCCTAAGCCAGTGGTCA[A/G]CTGGGCCCAGCATCGCAGAGCAAGTCACTGGGTGCCAGCC |
A |
A |
C___2928494_10 |
|
|
phospholipase
D3|homeodomain interacting protein kinase 4|hypothetical protein FLJ32818 |
PLD3|HIPK4|FLJ32818 |
Mis-sense
Mutation |
19 |
45578833 |
0.1 |
0.02 |
0.14 |
0.19 |
hCV2928494 |
GGCGTGCTCCGCCAGCGCCTCCCGGTCAGGGAAGGTTAGC[T/C]GACTGGCCACACTGCCACCATTCACTGTCTCAATCTGGTC |
T |
T |
C__25597890_10 |
rs3814288 |
|
periaxin |
PRX |
Intron |
19 |
45605820 |
0.01 |
0.12 |
0 |
0.08 |
hCV25597890 |
|
#N/A |
#N/A |
C___2928476_10 |
rs268662 |
|
periaxin|SERTA
domain containing 1|CDK4-binding protein p34SEI1 |
PRX|SERTAD1|SEI1 |
|
19 |
45615215 |
0.11 |
0.4 |
0.07 |
0.08 |
hCV2928476 |
CCCACCCAGTCCAGCCAAGGGACACTGGTGTCTCCCTCGA[G/T]CCCACCGTTCACGCCCACCCCCACACCCCAGTCCTCTCTC |
G |
G |
C___2419008_1_ |
rs166539 |
IMS-JST063555 |
SERTA
domain containing 1|CDK4-binding protein p34SEI1 |
SERTAD1|SEI1 |
Intron |
19 |
45623557 |
0.44 |
0.17 |
0.16 |
0.23 |
hCV2419008 |
CAGCCCCGGCGGGCACCTGTCGGACCCAGGGATCGAACTC[C/T]GTGAAGGACCCGGCCGCTGGTAGCCCTTCTGTTCCCAGGC |
C |
C |
C___8707297_10 |
rs268693 |
|
biliverdin
reductase B (flavin reductase (NADPH))|spectrin, beta, non-erythrocytic
4|hypothetical protein BC007653 |
BLVRB|SPTBN4|LOC92799 |
Intron |
19 |
45654980 |
|
|
0.16 |
0.22 |
hCV8707297 |
TGAAATCGCAAGTTTACTCGTGTATTACTTTTCCATTTCA[A/G]AGCTTGAGGAAAAAAGCCATAAATGATTTTGCTTCCTACC |
A |
A |
C___8094274_10 |
|
|
biliverdin
reductase B (flavin reductase (NADPH))|spectrin, beta, non-erythrocytic
4|hypothetical protein BC007653 |
BLVRB|SPTBN4|LOC92799 |
Intron |
19 |
45670293 |
0.19 |
0.23 |
0.2 |
0.05 |
hCV8094274 |
GACAGAGAAATTGAGGACAAGAGAGGGGACAGGACTCAAA[G/A]CCAGTCACTGTTAGAAATGAGACTTGATCCTAGACCTAAC |
A |
A |
C____472275_10 |
|
|
biliverdin
reductase B (flavin reductase (NADPH))|spectrin, beta, non-erythrocytic
4|hypothetical protein BC007653 |
BLVRB|SPTBN4|LOC92799 |
Intron |
19 |
45673038 |
0.23 |
0.13 |
0.06 |
0.09 |
hCV472275 |
TAAAACATGACACCCTAGCACCTTTGACCCTTGGGACCTT[A/G]ACATCTTAGAAACACGGAGCGCTAGAATCATAAAATATAG |
G |
G |
C__11709724_10 |
|
|
spectrin,
beta, non-erythrocytic 4|hypothetical protein BC007653 |
SPTBN4|LOC92799 |
Intron |
19 |
45674215 |
0.36 |
0.43 |
0.07 |
0.09 |
hCV11709724 |
GCTTTGTCTGATCTAGAAACCTAGACTGATGAAAACATAC[G/A]CTCATGGAAACTTACAGTCATACTTTTAGAGCCTTAGAAC |
G |
G |
C__11465258_10 |
rs814530 |
|
spectrin,
beta, non-erythrocytic 4|hypothetical protein BC007653 |
SPTBN4|LOC92799 |
Intron |
19 |
45708412 |
0.33 |
0.29 |
0.2 |
0.18 |
hCV11465258 |
ATTATTCAGTTGGATACCTTGTGGTTTGAGTCAACATCAG[T/C]GAATGTCCAGAATTACAGAAATCCCGCATTCCACATAGGG |
T |
T |
C___9612880_10 |
rs814538 |
|
spectrin,
beta, non-erythrocytic 4|hypothetical protein BC007653 |
SPTBN4|LOC92799 |
Intron |
19 |
45717083 |
0.33 |
0.17 |
0.18 |
0.21 |
hCV9612880 |
CAGTGGCTGGGTGGCTTGGGCCTGGATTCTACCCTGGGTC[A/G]GCGGGCCCTCCGCGCCCAAGAGGAGTCCCTGTCCTCCTCA |
A |
A |
C____311388_10 |
|
|
spectrin,
beta, non-erythrocytic 4|hypothetical protein BC007653 |
SPTBN4|LOC92799 |
Intron |
19 |
45750439 |
0.17 |
0.11 |
0.04 |
0.06 |
hCV311388 |
GATTATTTTGGAAGCTTCCTGATCATTCTGCAGTAGGTAG[A/T]GTTATTTAAGAGACTGGAGTTTTGCTGAGATTTTGTTTTC |
T |
T |
C___1396192_10 |
rs1675401 |
|
spectrin,
beta, non-erythrocytic 4|hypothetical protein BC007653 |
SPTBN4|LOC92799 |
Intron |
19 |
45755267 |
0.49 |
0.48 |
0.04 |
0.06 |
hCV1396192 |
GTGGAGCAGGTCGAAATTAGGCAGTGGCACAGACAGAAAG[T/C]GGACTACAGAACAGGAAGAAATTAGATAATGGAGCAGATA |
T |
T |
C___8714757_10 |
rs814518 |
|
hypothetical
protein BC007653|spectrin, beta, non-erythrocytic 4 |
LOC92799|SPTBN4 |
Intron |
19 |
45776533 |
|
|
0.32 |
0.2 |
hCV8714757 |
CTCAGAAGGATGTCCTGGAGCCCCATGGGAGTTGTAGTCC[A/G]GGTTTGGTTTCTTTGTAGGGGGGGCTTTGGAAGACCTGGG |
A |
A |
C__11709644_10 |
|
|
latent
transforming growth factor beta binding protein 4 |
LTBP4 |
Intron |
19 |
45800815 |
0.5 |
0.37 |
0.42 |
0.31 |
hCV11709644 |
GGAGCTGAGTTTTTGCTCCAGGCCCTAGACCCGCTCTCCA[A/C]CCATGGCAACAGACTTTAGAGACCACTCCTCCAGTGAAAT |
A |
C |
C___8714812_1_ |
rs919307 |
IMS-JST060502 |
latent
transforming growth factor beta binding protein 4 |
LTBP4 |
Intron |
19 |
45808091 |
0.44 |
0.44 |
0.41 |
0.31 |
hCV8714812 |
CCCTTAGCTTGGTCCCCAAAGCTCTCCTTTCTGCCCTTGC[C/G]CTACCAAACCCTGCCCTCCACAATTGCCTCTCTCACTGTG |
G |
C |
C___2936813_10 |
|
|
latent
transforming growth factor beta binding protein 4 |
LTBP4 |
Intron |
19 |
45810547 |
0.42 |
0.37 |
0.45 |
0.31 |
hCV2936813 |
ATCCTAGTTTATAATACTTGACTGGTCCCTTGCCCTAGTT[C/G]ATTTCTGATCCCTGTCTGATCCCTCTCCTGACTCCAAAAT |
G |
C |
C___2936821_1_ |
rs10880 |
|
latent
transforming growth factor beta binding protein 4 |
LTBP4 |
|
19 |
45820149 |
|
|
0.45 |
0.42 |
hCV2936821 |
TCAGCCCACACTGGGCTAAAGCTCCTTGTCTCCCCAGGCA[T/C]GTTCCCAGGCTCGCAGCCCCAGGCACCTGCTAGCCCCGTT |
C |
C |
C__15964983_10 |
rs2278243 |
IMS-JST025467 |
latent
transforming growth factor beta binding protein 4 |
LTBP4 |
Intron |
19 |
45823862 |
0.18 |
0.23 |
0.33 |
0.15 |
hCV15964983 |
TCCCCAGTCGCAGAACCCCCAGACTCTATCCAAACTCTGT[C/G]CCCTAGACCAACCCCTATGTCGCAGCCCATCCCAAAATCT |
#N/A |
#N/A |
C___2936858_10 |
rs2604904 |
|
numb
homolog (Drosophila)-like |
NUMBL |
|
19 |
45856132 |
0.4 |
0.49 |
0.47 |
0.47 |
hCV2936858 |
ATGTCTACTTAAGCTTATAGGTATGAGCTACTGTATGCTA[C/T]CTAAGCTTATAGGTATGAGCTACAAATTGCTATTGTGTTA |
T |
C |
C___2936866_10 |
|
|
numb
homolog (Drosophila)-like |
NUMBL |
|
19 |
45861134 |
0.27 |
0.34 |
0.2 |
0.14 |
hCV2936866 |
AGGGGCGGGGCTGCAACGGAGGGCGGAGCTTCCCAAAGAA[C/A]GGGAGAGAGGAGTGCAGAACCGGCCCCAGGGGGACGTCCT |
A |
A |
C___2936874_10 |
rs2250994 |
|
numb
homolog (Drosophila)-like |
NUMBL |
Intron |
19 |
45868243 |
0.3 |
0.06 |
0.43 |
0.48 |
hCV2936874 |
CCAGGCTGATCTATGGCAAACATCATGAGAGCAGAGATAC[G/A]CCTGTGCCAGCAAGGCAGGAGACACTGAGCAGGCATGGCG |
A |
A |
C__11709565_10 |
|
|
numb
homolog (Drosophila)-like|aarF domain containing kinase 4|hypothetical
protein FLJ12229 |
NUMBL|ADCK4|FLJ12229 |
Intron |
19 |
45884257 |
0.34 |
0.46 |
0.04 |
0.09 |
hCV11709565 |
TCTCTTGAGAGTGTGTATCTCAGAGTCTGTATCCAGCGAG[T/C]GTCTGTGGTCACCTGTGAATCTGGGTGTTGTCTAGGAATG |
T |
T |
C___2936904_10 |
|
|
aarF
domain containing kinase 4|hypothetical protein FLJ12229 |
ADCK4|FLJ12229 |
Silent
Mutation |
19 |
45901317 |
0.26 |
0.11 |
0.28 |
0.17 |
hCV2936904 |
GCGCCTCACCCGCGGGCAGGGCCGCGCTCATCTTGAGTAC[T/C]GCCAGCAGGTTCTGGACATCGCTCTGAATGCTCTGGGCTA |
T |
T |
C___2936922_1_ |
rs2303723 |
|
inositol
1,4,5-trisphosphate 3-kinase C|aarF domain containing kinase 4|hypothetical
protein FLJ12229 |
ITPKC|ADCK4|FLJ12229 |
Intron |
19 |
45922835 |
|
|
0.31 |
0.32 |
hCV2936922 |
GATCCTTACTCATAAGAGAAGGACAGAGAGACATAGATAC[A/G]AAGAAAGTGATGACAGAGGGGAGAAATGGGCAAAGAATTT |
A |
A |
C__11709547_10 |
|
|
inositol
1,4,5-trisphosphate 3-kinase C |
ITPKC |
Intron |
19 |
45926878 |
0.04 |
0.24 |
0.26 |
0.19 |
hCV11709547 |
AGGGTCGGGCAAGATAATGGTGGCCAGGATCTGATGCAAA[C/G]AGGCAGCTGCGGAGAGGTTCTCTTCCTGATCCAGTTCCTG |
G |
G |
C__11465156_1_ |
rs1870087 |
IMS-JST042769 |
inositol
1,4,5-trisphosphate 3-kinase C|small nuclear ribonucleoprotein polypeptide
A|FLJ41131 protein |
ITPKC|SNRPA|FLJ41131 |
Intron |
19 |
45947971 |
0.49 |
0.24 |
0.31 |
0.47 |
hCV11465156 |
TTAAGGATGCGACTTAGGGACCCAGGGCTAAAGATTCGGA[G/T]AACTTAGGTTCAGTACCCCCTCACATCCCAGGCCCGAGTT |
T |
G |
C__11465155_1_ |
rs1869710 |
IMS-JST042768 |
inositol
1,4,5-trisphosphate 3-kinase C|small nuclear ribonucleoprotein polypeptide
A|FLJ41131 protein |
ITPKC|SNRPA|FLJ41131 |
UTR
5 |
19 |
45948215 |
0.03 |
0.14 |
0.18 |
0.18 |
hCV11465155 |
ACCACTGGAAAAAGGAAAGGAGTCAGGAAGTAAAGTGCAC[C/T]TCCCACTCCCGGAAAATGGCGGCCCCCGCACACTGCCTTT |
T |
T |
C__11465152_20 |
rs1870086 |
IMS-JST042767 |
inositol
1,4,5-trisphosphate 3-kinase C|small nuclear ribonucleoprotein polypeptide
A|FLJ41131 protein |
ITPKC|SNRPA|FLJ41131 |
|
19 |
45948359 |
0.49 |
0.33 |
0.31 |
0.48 |
hCV11465152 |
GCAGCTCTGGCGGGGGTAAGAGGCGGGACTCCAAAAAGGA[T/G]TGCCTCCGGAAGACACCGCAGCGCGAGACGCGTACAGACT |
G |
T |
C___3060412_10 |
rs2249835 |
|
small
nuclear ribonucleoprotein polypeptide A|FLJ41131 protein |
SNRPA|FLJ41131 |
Intron |
19 |
45961606 |
|
|
0.36 |
0.18 |
hCV3060412 |
|
#N/A |
#N/A |
C___2818165_10 |
rs2014141 |
|
cytochrome
P450, family 2, subfamily B, polypeptide 6 |
CYP2B6 |
Intron |
19 |
46191829 |
|
|
0.33 |
0.3 |
hCV2818165 |
CCTCAGATTCCATACAACTGTCACCCAAATACCACCAAGA[A/G]TGAGCACCCAGGAACCCAACTGGAACCTTTTCTGAACAGA |
A |
A |
C__11507709_10 |
rs3786547 |
|
cytochrome
P450, family 2, subfamily B, polypeptide 6 |
CYP2B6 |
Intron |
19 |
46198031 |
0.19 |
0.45 |
0.31 |
0.18 |
hCV11507709 |
GAGCCTATGTCCTTGATAGTGCTGCATTTACCTGTGATCC[T/C]GTGGCTGAGCTCTCCCTCACACTTCCAGACAAGGAAGGCC |
C |
C |
C__11507694_10 |
|
|
cytochrome
P450, family 2, subfamily B, polypeptide 6 |
CYP2B6 |
Intron |
19 |
46211408 |
0.07 |
0.06 |
0.02 |
0.06 |
hCV11507694 |
TTGAAGGTTGCAGGAGGAGTTTGGATTTATGGTCTAGCAC[C/T]GGGAAGGTGGAAAAGGTCTTGACGTGCTCTGACTTGTCCC |
C |
C |
C__11507525_10 |
|
|
|
|
|
19 |
46265963 |
|
|
0.26 |
0.32 |
hCV11507525 |
AGTACCTTCTGTGTAGCGTTGTTCGGGGTTGGTGATAACG[C/T]GCATCGAAGGCCCTTAGCACAGACTTTGCTTGGCACATGC |
C |
C |
C___3291339_10 |
rs1709116 |
|
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13 |
E1B-AP5|CYP2A13 |
|
19 |
46364807 |
0.29 |
0.43 |
0.27 |
0.33 |
hCV3291339 |
ACAAACTGATAACTTTTACTTTCCTGGAATGTCTACTGAT[T/C]CTGTGACATTGTCCGGCCCCTGCTCATTCAGGTGCTGGAA |
C |
C |
C___2731847_10 |
rs338586 |
|
cytochrome
P450, family 2, subfamily S, polypeptide 1|E1B-55kDa-associated protein
5|cytochrome P450, family 2, subfamily A, polypeptide 13 |
CYP2S1|E1B-AP5|CYP2A13 |
Intron |
19 |
46403595 |
|
|
0.38 |
0.42 |
hCV2731847 |
CTGCACGCCACTCAACACTCCACAAATGTTGATGCCATTA[G/T]GTTTTGTGAACTAGTGTCCCTGGCACCCGAGACTTGTACT |
G |
G |
C___2731853_10 |
rs168109 |
|
cytochrome
P450, family 2, subfamily S, polypeptide 1|E1B-55kDa-associated protein
5|cytochrome P450, family 2, subfamily A, polypeptide 13 |
CYP2S1|E1B-AP5|CYP2A13 |
|
19 |
46408111 |
|
|
0.36 |
0.42 |
hCV2731853 |
GAGATTGGAATCAGATCCTAACTTTGCCACCTCCTAGCTG[A/G]TCACACCTTGACTGAGGCTTTACCATCTTAAAGCCTTAAT |
G |
G |
C___2731868_10 |
|
|
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13 |
E1B-AP5|CYP2A13 |
|
19 |
46415727 |
0.28 |
0.46 |
0.31 |
0.17 |
hCV2731868 |
CAGTACCCAAACACAGGTGGCCAAGAGCAGAGGGATAGAC[T/G]CCCAGCCTCCTCCTCACAGACATCCAGGCATGCAGAGCCC |
T |
T |
C__11707935_10 |
|
|
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13|AXL receptor
tyrosine kinase |
E1B-AP5|CYP2A13|AXL |
|
19 |
46431094 |
|
|
0.41 |
0.31 |
hCV11707935 |
CAGTGCTTGATTAAACAGGAATTGTCTTATACTTACATGC[C/T]CTGAGCACAACCCCATCTGCTTGTCGTTTTAAACCTAGAA |
C |
C |
C__25472343_10 |
rs2304234 |
|
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13|AXL receptor
tyrosine kinase |
E1B-AP5|CYP2A13|AXL |
|
19 |
46440593 |
0.41 |
0.42 |
0.31 |
0.3 |
hCV25472343 |
|
#N/A |
#N/A |
C___7818153_10 |
rs1946613 |
|
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13|AXL receptor
tyrosine kinase |
E1B-AP5|CYP2A13|AXL |
|
19 |
46459625 |
0.14 |
0.11 |
0.31 |
0.23 |
hCV7818153 |
AAAAAGAAGGGCTTGGTAGGGTCTTGGAATTCTGTCCTCA[T/C]TAGAGAGGGTAGAAATGAACACACAGATAGACAAAAAGAC |
T |
T |
C___7818175_10 |
|
|
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13|AXL receptor
tyrosine kinase |
E1B-AP5|CYP2A13|AXL |
Intron |
19 |
46460944 |
0.27 |
0.14 |
0.31 |
0.24 |
hCV7818175 |
GGCTTTTGCGGGCTTAACGTGTGGCTCAGGAGGCAGTGGG[C/A]GTCTGCATCATGTATCCCGATTGCGTCTTACTCGAGTTTT |
C |
C |
C___7818184_1_ |
rs2304230 |
IMS-JST061148 |
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13|AXL receptor
tyrosine kinase |
E1B-AP5|CYP2A13|AXL |
Intron |
19 |
46465904 |
0.15 |
0.29 |
0.34 |
0.3 |
hCV7818184 |
ACTCTTAGTTGAGCTCCTGGACCTGCAGATGCCTTCTGGA[C/T]GCTTTGGTCCAGGGTTCTTCATGAACCGCCCCTCTAATTG |
C |
C |
C___7818207_1_ |
rs3745295 |
|
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13 |
E1B-AP5|CYP2A13 |
Intron |
19 |
46477122 |
0.15 |
0.29 |
0.34 |
0.3 |
hCV7818207 |
TGCTGTATTCAACTGAGAGGACTATGGTCATGAAACAACT[T/G]TTCTGTGAAGAATCAATTCTTATCCTTCATCTTTTAGGAG |
G |
G |
C___7818230_10 |
|
|
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13 |
E1B-AP5|CYP2A13 |
Intron |
19 |
46488312 |
0.14 |
0.31 |
0.34 |
0.29 |
hCV7818230 |
TTCAGTCCCAGCCCCTTATTTCTAGCACAGTGCCTGACAT[T/C]TTGCAGTGATAGCTCACATTCCTTGTGTGCTCACTGTGTA |
C |
C |
C___7818231_10 |
rs2053086 |
|
E1B-55kDa-associated
protein 5|cytochrome P450, family 2, subfamily A, polypeptide 13 |
E1B-AP5|CYP2A13 |
Intron |
19 |
46491315 |
0.15 |
0.07 |
0.31 |
0.21 |
hCV7818231 |
TGTTTACCAAATTCTAAATGTACTGATTAGATACAATTCA[T/C]GTCCTTGTGTGTGCAGCTCTGTTCCTATTTCATACTTAAA |
C |
C |
C___7818325_10 |
|
|
E1B-55kDa-associated
protein 5|hypothetical protein MGC20255|cytochrome P450, family 2, subfamily
A, polypeptide 13 |
E1B-AP5|MGC20255|CYP2A13 |
Intron |
19 |
46498911 |
0.14 |
0.31 |
0.34 |
0.29 |
hCV7818325 |
CTTCATTCTCTCTGGGAAGTAGGGCTGGCACTAAGGGAAC[G/A]CAGGGGTTTTTCCTCTAAACTTTATGCCTTATACTGTGAA |
G |
G |
C__11707868_10 |
|
|
E1B-55kDa-associated
protein 5|hypothetical protein MGC20255|cytochrome P450, family 2, subfamily
A, polypeptide 13 |
E1B-AP5|MGC20255|CYP2A13 |
Intron |
19 |
46514826 |
0.25 |
0.44 |
0.36 |
0.31 |
hCV11707868 |
TGGGACAGACAATGAGAATAGATCAGAATTTAGTAGATGT[T/C]AGAAGTGGCATTTCAGATTGGTAGGCTGAGGACACAGTAC |
C |
C |
C___8708473_10 |
|
|
hypothetical
protein MGC4093|transforming growth factor,beta 1 (Camurati-Engelmann
disease) |
MGC4093|TGFB1 |
|
19 |
46552136 |
0.28 |
0.35 |
0.33 |
0.45 |
hCV8708473 |
GGAGGGTGTCAGTGGGAGGAGGGGGCAACAGGACACCTGA[A/G]GGATGGAAGGGTCAGGAGGCAGACACCTGTAAGAATTGCT |
G |
A |
C__15873873_10 |
rs2241712 |
IMS-JST013660 |
hypothetical
protein MGC4093|transforming growth factor, beta 1 (Camurati-Engelmann
disease) |
MGC4093|TGFB1 |
Intron |
19 |
46561596 |
0.31 |
0.23 |
0.33 |
0.45 |
hCV15873873 |
CTCCGCCCACGAGCGCAAAAGACCCGCCTTCCGCGTCACG[C/T]CAGCCACCCCGCTTCCCTCCCCCAGCAAGCTCCATAAGGC |
T |
C |
C___7818439_1_ |
|
|
exosome
component Rrp46 |
RRP46 |
|
19 |
46581588 |
0.31 |
0.21 |
0.33 |
0.47 |
hCV7818439 |
TGGGCGTGTGCACGTATGCGGCTGCCCTGGTGACCCTGGC[C/T]GCCTACCTTGCCTCCCGAGACCCGCCCTAGTTGCCCCTAC |
C |
T |
C__15873862_10 |
rs2241710 |
IMS-JST013658 |
branched
chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine
disease)|exosome component Rrp46 |
BCKDHA|RRP46 |
Intron |
19 |
46603932 |
0.33 |
0.23 |
0.33 |
0.45 |
hCV15873862 |
CCCAGCAAAGAGGGGAGGAGGGTACAGCCGAGACCCAGCT[C/G]CAGTATGTGGAGCACACTGGGGTGCCGTGAAGATAGCTGT |
C |
G |
C___7613499_1_ |
rs284649 |
IMS-JST040245 |
branched
chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine
disease) |
BCKDHA |
Intron |
19 |
46618678 |
0.31 |
0.25 |
0.33 |
0.47 |
hCV7613499 |
GGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTT[C/T]TTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCT |
T |
C |
C__15879946_10 |
rs2288870 |
|
branched
chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine
disease) |
BCKDHA |
Intron |
19 |
46618855 |
|
|
0.19 |
0.36 |
hCV15879946 |
TAGGTGGGAGGTGGGCAGGGAAGCTTTCTCAGAGGAGGGG[A/G]CATTTAGGGGGCATTTGAGCTAAAGGTAATAGGGTTTCCA |
#N/A |
#N/A |
C___7613505_1_ |
rs284650 |
IMS-JST040243 |
branched
chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine
disease) |
BCKDHA |
Intron |
19 |
46618969 |
0.34 |
0.24 |
0.33 |
0.45 |
hCV7613505 |
GGTCCCTGCTAAGTCACTTCAAATACACGAAGTTCCTGCC[A/G]TGTGCCGGTGCCACTCCAAGTGCAGGGAACAAAAGCAACG |
G |
A |
C___7613506_1_ |
rs284651 |
IMS-JST040242 |
branched
chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine
disease)|hypothetical protein FLJ10241 |
BCKDHA|FLJ10241 |
Intron |
19 |
46620176 |
0.31 |
0.23 |
0.34 |
0.47 |
hCV7613506 |
TCCCCACCCCGCTGGGATCATCTCCTTCCCTCCCCAATCC[C/T]GCCACCTTCCTGCCACCCCTACCCTCCTTCCTGGTTCTCG |
C |
T |
C___7613520_10 |
|
|
branched
chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine
disease)|hypothetical protein FLJ10241 |
BCKDHA|FLJ10241 |
Intron |
19 |
46621828 |
0.34 |
0.48 |
0.33 |
0.45 |
hCV7613520 |
TGTACATGCCCTGCCCAGAGTCAGTGTGCCACCCTCCCTG[A/G]CCCGGTCATTAGGACCCAGGGCCCGTGCAGCCCAGTGGTG |
A |
G |
C___7613526_10 |
rs4674 |
IMS-JST061028 |
branched
chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine
disease)|hypothetical protein FLJ10241 |
BCKDHA|FLJ10241 |
Silent
Mutation |
19 |
46622236 |
0.32 |
0.23 |
0.33 |
0.43 |
hCV7613526 |
TTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCT[A/G]CTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCC |
#N/A |
#N/A |
C___2600449_10 |
rs887391 |
|
|
|
|
19 |
46677464 |
|
|
0.32 |
0.45 |
hCV2600449 |
AATGAGTGTTCTGTCGGTTTCACGTAAAGATATATAATGG[T/C]ATCGTCCCTGGAGAGCGTGGCCATTTTATGGGAGGTGACG |
C |
C |
C___2953381_1_ |
|
|
|
|
|
19 |
46693050 |
|
|
0.44 |
0.5 |
hCV2953381 |
GCTGCTACAGTGGGGTCACACCTGATGACGTTTGCATTAC[T/C]TTCCTGCCATCTGCCATCATCCTTCTGGATTTTGAAGATA |
T |
C |
C__11707676_1_ |
rs2302188 |
IMS-JST058479 |
hypothetical
protein R29124_1 |
R29124_1 |
Mis-sense
Mutation |
19 |
46777713 |
0.29 |
0.47 |
0.34 |
0.5 |
hCV11707676 |
GCAGGTCACGAAGAGGATGAAGCTGTCCTGGTTTAACCAT[G/A]TGCTCACCATAGACCCCATCAGGCAGGAGGACGCTGGGGA |
A |
A |
C___7613633_1_ |
|
|
carcinoembryonic
antigen-related cell adhesion molecule 4 |
CEACAM4 |
Intron |
19 |
46818731 |
0.08 |
0.18 |
0.25 |
0.43 |
hCV7613633 |
AAAGAAAGGGTCAGAGGCCCCCAGGGGGTGACTGGCAGGA[C/G]TGGACACCGTAGGGCAGGCCTAGGGGCTCCCACACCTGGG |
C |
C |
C___2597386_10 |
rs2215284 |
|
carcinoembryonic
antigen-related cell adhesion molecule 7 |
CEACAM7 |
|
19 |
46867000 |
|
|
0.4 |
0.47 |
hCV2597386 |
CAGGAGACCTTGGAAGACCTAGAGTGTCCTCTGCACAAAT[G/A]AAGTGGAGGATGGGGTTAAATTACGGAGTTGGATGACACT |
A |
A |
C___2597393_10 |
rs1008577 |
|
carcinoembryonic
antigen-related cell adhesion molecule 7 |
CEACAM7 |
Intron |
19 |
46879134 |
|
|
0.41 |
0.49 |
hCV2597393 |
GATGAAGAGTCTAAGGTTTGCTCCTAACTCGTAAGATATA[T/A]CTGGGGTAGAAGGGGTGTCCAAGCCACCCGGAGCAAAGAG |
A |
A |
C___3060270_10 |
|
|
carcinoembryonic
antigen-related cell adhesion molecule 5 |
CEACAM5 |
Mis-sense
Mutation |
19 |
46913447 |
0.12 |
0.03 |
0.3 |
0.21 |
hCV3060270 |
AAGGAATGATGTAGGACCCTATGAGTGTGGAATCCAGAAC[A/G]AATTAAGTGTTGACCACAGCGACCCAGTCATCCTGAATGT |
A |
A |
C___8597398_10 |
|
|
carcinoembryonic
antigen-related cell adhesion molecule 5|carcinoembryonic antigen-related
cell adhesion molecule 6 (non-specific cross reacting antigen) |
CEACAM5|CEACAM6 |
Intron |
19 |
46957706 |
0.42 |
0.27 |
0.5 |
0.46 |
hCV8597398 |
TTATGCTTCCCTCTGACAACATCACCTGTGGCTTTATTCT[G/C]TTTCCTCCAGATGGCCCAGATGGCCCCACCATTTCCCCCT |
C |
C |
C___8597406_10 |
|
|
carcinoembryonic
antigen-related cell adhesion molecule 5|carcinoembryonic antigen-related
cell adhesion molecule 6 (non-specific cross reacting antigen) |
CEACAM5|CEACAM6 |
Intron |
19 |
46962846 |
|
|
0.49 |
0.45 |
hCV8597406 |
TTAAGTTCAAATTTCTTCTCTTTACTAATTCTTCTTACTT[C/T]CTTTCCCTCTACTTCCCAGTATAATTCCTCCATCTTAATT |
C |
C |
C___1664433_1_ |
rs2290695 |
IMS-JST042774 |
DMRT-like
family C2|hypothetical protein MGC42718 |
DMRTC2|MGC42718 |
Mis-sense
Mutation |
19 |
47034159 |
0.37 |
0.23 |
0.42 |
0.44 |
hCV1664433 |
CAGGGTAAGACGAAGACGAGCTGCAGCCTTTAAAGCCCAC[A/G]ACTCCCCTTGCAGTCCCTGAGGAGCAGAGGATTGAGAGAG |
G |
A |
C___1664435_10 |
|
|
DMRT-like
family C2|hypothetical protein MGC42718 |
DMRTC2|MGC42718 |
Intron |
19 |
47034763 |
0.09 |
0.36 |
0.42 |
0.4 |
hCV1664435 |
TCGGTGCTGGGAGTGGAGCTGGGGGTCAGAAGAGCAAGCA[A/T]AACGAAATTGATCAAACTTAGACTGCTTCACCTGTCTCAA |
A |
T |
C___3060188_10 |
|
|
DMRT-like
family C2|hypothetical protein MGC42718 |
DMRTC2|MGC42718 |
Intron |
19 |
47037839 |
0.39 |
0.21 |
0.42 |
0.4 |
hCV3060188 |
CACTATTTCTGGACTCTGAGAAACAAAGGAGTTGAGAGTT[T/C]TGACCAGGATCTCAGGCCCAAAGCAGCATTGCAGGGGTCT |
C |
T |
C___2829432_10 |
rs3786536 |
|
CD79A
antigen (immunoglobulin-associated alpha)|ribosomal protein S19 |
CD79A|RPS19 |
Intron |
19 |
47064297 |
0.4 |
0.36 |
0.4 |
0.47 |
hCV2829432 |
ACCTGTTGAGTCCTCAGAGTAACCCGGCCCTCAGGTGAAG[A/C]AGGGTGGAGAGATCGAAAAGCATTTGGCACAGGGCCTGGC |
A |
C |
C___8708564_10 |
rs1428922 |
|
CD79A
antigen (immunoglobulin-associated alpha)|Rho guanine nucleotide exchange
factor (GEF) 1|ribosomal protein S19 |
CD79A|ARHGEF1|RPS19 |
|
19 |
47071620 |
0.4 |
0.19 |
0.38 |
0.48 |
hCV8708564 |
GCTACGATATTTTTTCTGATGTTTGTGCTGTTTCTGAGAC[A/G]GCCTTATGACACCTTCCCCTATTCTGTAGCATTCTGTTGG |
A |
G |
C___2829447_10 |
rs717225 |
|
CD79A
antigen (immunoglobulin-associated alpha)|Rho guanine nucleotide exchange
factor (GEF) 1 |
CD79A|ARHGEF1 |
Intron |
19 |
47085126 |
|
|
0.15 |
0.12 |
hCV2829447 |
TGGCAGCGCCCCCATCAGCCTGTGGCAGCACCTTTCCGTG[A/G]ACTCTAGGGGACCAAATTCTTCTCTCCAAAGCCTTTTTGG |
G |
G |
C__25473045_10 |
|
|
Rho
guanine nucleotide exchange factor (GEF) 1 |
ARHGEF1 |
Intron |
19 |
47090290 |
|
|
0.15 |
0.13 |
hCV25473045 |
TTCCTCTCCAGAGACGCCCTGGGAGCCTCATGACTCTGGA[C/T]ACCTAGCGTCAAATTCTGCTTTGTTGTTGTCTCAGAGATG |
C |
C |
C___2829408_10 |
|
|
|
|
|
19 |
47115315 |
0.06 |
0.29 |
0.17 |
0.14 |
hCV2829408 |
CTTCACACACAGACTTCGGCACAAGTTCACAGAAGTTGCA[G/C]ACACATGCGCCATCCAACAGCCACACATAAACATGCAACC |
C |
C |
C___2829404_10 |
|
|
Rab
acceptor 1 (prenylated) |
RABAC1 |
|
19 |
47147680 |
|
|
0.3 |
0.16 |
hCV2829404 |
GCATTGAGGTCAACAAACACCCTCTGCTACTCCAAAATTG[G/A]GATTGGAACCCTGGCCTCTGAGTAGGCCCAGGTGACCTGA |
G |
G |
C___2382355_1_ |
rs735571 |
IMS-JST060603 |
ATPase,
Na+/K+ transporting, alpha 3 polypeptide|Rab acceptor 1 (prenylated) |
ATP1A3|RABAC1 |
UTR
5 |
19 |
47155287 |
0.4 |
0.26 |
0.31 |
0.18 |
hCV2382355 |
GCCTCGGCATCTTTCTGCTGGTCCTTCTGCGCTGCCATGT[C/T]TGCGTCGTGAGGGGTAGAGCTGCTGTAACCAGCCCGGTAC |
C |
C |
C__25597099_10 |
|
|
ATPase,
Na+/K+ transporting, alpha 3 polypeptide |
ATP1A3 |
Intron |
19 |
47166040 |
|
|
0.31 |
0.17 |
hCV25597099 |
AGAGGAGGAGGTGGAGAAGGATGGGGTGCAGACCCCCCCC[A/T]CAGATAGCTCACTGGTTGGTCCTGCCCACGTCTGCTCCCC |
A |
A |
C___1854167_10 |
|
|
glutamate
receptor, ionotropic, kainate 5|zinc finger protein 574|hypothetical protein
FLJ22059 |
GRIK5|ZNF574|FLJ22059 |
|
19 |
47267210 |
0.38 |
0.1 |
0.33 |
0.27 |
hCV1854167 |
GGAGACTCCTTCCCAGGGAACACCCTGCAGCCTCTCAGAA[C/G]GAGCTGAGCAGGACAGGGGGATGGAAGAGAGAAGCGACAC |
C |
C |
C___8708686_10 |
rs1195296 |
|
POU
domain, class 2, transcription factor 2 |
POU2F2 |
|
19 |
47368321 |
0.31 |
0.09 |
0.2 |
0.22 |
hCV8708686 |
GGATTGGTTCTGCTTCAGAGTCTAGGCCTTTGTTGGCCCA[C/T]GGTCAGTGCCTAGCGATCATTTTCAGGTTAAGGAGTGATC |
T |
T |
C___2926288_10 |
|
|
POU
domain, class 2, transcription factor 2 |
POU2F2 |
|
19 |
47375631 |
0.14 |
0.14 |
0.11 |
0.06 |
hCV2926288 |
AACCGCCCTTCGCTTTGTTACCAGCAAGGCTACCCCATGC[A/G]TACTGAGTGGACACGCGGGACCCTCATGTGTGTGTGAGAA |
G |
G |
C__25594375_10 |
|
|
Ets2
repressor factor|glycogen synthase kinase 3 alpha |
ERF|GSK3A |
Silent
Mutation |
19 |
47444874 |
0.08 |
0.12 |
0.07 |
0 |
hCV25594375 |
GTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTC[A/G]GCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGG |
G |
G |
C___8708824_10 |
rs851615 |
|
hypothetical
protein FLJ90805|platelet-activating factor acetylhydrolase, isoform Ib,
gamma subunit 29kDa |
FLJ90805|PAFAH1B3 |
|
19 |
47507133 |
|
|
0.07 |
0.01 |
hCV8708824 |
CTCCAGTGATTGTGTCTAGGAGAGCAAGAGAGGTGCAGGG[T/G]CTGGGGCAGTCCAAGGAGGGAGTGATGGCTGCCCTAGTGA |
T |
T |
C___8708894_10 |
rs1676211 |
|
HBV
pre-s2 binding protein 1 |
SBP1 |
|
19 |
47544320 |
|
|
0.06 |
0.05 |
hCV8708894 |
GCACGACCATCACCCTAACACCCAGCGCAGAGACAGATGT[G/A]TCCCTGGTCTACCGTGGCTTCATCTACCCAATGCTGCCTG |
A |
A |
C___2576705_10 |
|
|
carcinoembryonic
antigen-related cell adhesion molecule 1 (biliary glycoprotein) |
CEACAM1 |
UTR
5 |
19 |
47724401 |
0.1 |
0.42 |
0.13 |
0.03 |
hCV2576705 |
CCCCATGGTGTCTCCTGCTGGCCCTGTCTTCACCTGTGGA[A/G]GAGAGCTTGGGCTCCAGGAACGCTTCGAGCACGGCTGCTC |
A |
A |
C____347319_10 |
|
|
carcinoembryonic
antigen-related cell adhesion molecule 8 |
CEACAM8 |
|
19 |
47800474 |
0.08 |
0.12 |
0.14 |
0.03 |
hCV347319 |
CTCCTGGAGGGAATTTGGCTGTCTAGAGACCTTTTTAGGA[A/G]CCTAATCTAAATAGATAAATTATCCCCACTTCCCTTGCTG |
G |
G |
C___2567587_10 |
|
|
|
|
|
19 |
47821769 |
0.1 |
0.42 |
0.14 |
0.05 |
hCV2567587 |
GTTCTTCTCAGAAAGCCAAATAGACTTCACCTGAAAACCT[G/A]TTGCCAGTGCTCCCCTTACCAGTGACTGTGATCTTCTTGA |
A |
A |
C__11506838_10 |
|
|
testis-specific
protein TES101RP |
MGC4766 |
UTR
5 |
19 |
48602489 |
0.19 |
0.02 |
0.29 |
0.4 |
hCV11506838 |
AGGAGAGGGGGATCGGTGGGCGGTCCCGCCTCCATCTTCA[G/T]TTCCCGCATGGGGGCGAGGCAGGTACATGGGCCTTGCGGG |
G |
G |
C___1344195_10 |
rs2355990 |
|
testis-specific
protein TES101RP |
MGC4766 |
Intron |
19 |
48613125 |
0.23 |
0.35 |
0.3 |
0.39 |
hCV1344195 |
CAGTCTAACAAGTATTGGTTTCCCACTGCTGCACGAGAAC[A/G]GCCCAGTTCCCCAATTTACAAGGCCTGTAGTAACTTGGCC |
G |
G |
C___1802610_1_ |
rs2260164 |
IMS-JST046003 |
GPI-anchored
metastasis-associated protein homolog |
C4.4A |
Intron |
19 |
48660152 |
0.26 |
0.14 |
0.13 |
0.06 |
hCV1802610 |
TCTCAACTCTCTGCTCCTCGCGCTTGTAATTGTTAATAGA[G/A]AAGGCCTGGCCTGCAAGGCTGTGTCGTAGGGTCCCGGCCA |
A |
A |
C___1344294_10 |
|
|
GPI-anchored
metastasis-associated protein homolog |
C4.4A |
|
19 |
48665146 |
0.26 |
0.14 |
0.12 |
0.06 |
hCV1344294 |
TCCAAAGGCCCCCATGCCATTTGCCAAAGTCAGAGCCTGG[C/G]TTTAGGCCTGAGATTATATTTTGCAATGACCCTTAGTTTT |
G |
G |
C___1344308_10 |
|
|
similar
to LL5 beta |
LOC284345 |
|
19 |
48677863 |
|
|
0.11 |
0.08 |
hCV1344308 |
CAAGGCCAGAGCAAGAAGGGATGAGAAACAGAGATGAGAT[T/C]TGCTGGTTGGAGACAGGAGAGTGAGGTGGGGAAATGAGAA |
T |
T |
C___1344330_10 |
rs1125030 |
|
similar
to LL5 beta |
LOC284345 |
|
19 |
48691474 |
0.33 |
0.4 |
0.38 |
0.34 |
hCV1344330 |
TGCCCCAGGGGGAAGTGAGGACGGTAGGGTAGGGCAGGTG[C/A]CAGGTAGCTCACCTGTGACAGGGCCTGAAGGGCCTCCTCC |
A |
A |
C___1344345_10 |
|
|
ethylmalonic
encephalopathy 1|similar to LL5 beta|protein expressed in thyroid |
ETHE1|LOC284345|YF13H12 |
Intron |
19 |
48700368 |
0.22 |
0.1 |
0.18 |
0.12 |
hCV1344345 |
CGGGACCGGAATTTGAGTCCGGGTCGTAGCACGCCCCCTA[C/T]TGACCTCTTCGACCCCGCCTCCCCTCCCTCATCTCTAGGT |
T |
T |
C__15977183_10 |
rs2305375 |
|
ethylmalonic
encephalopathy 1|similar to LL5 beta|protein expressed in thyroid |
ETHE1|LOC284345|YF13H12 |
Intron |
19 |
48705100 |
0.33 |
0.35 |
0.26 |
0.27 |
hCV15977183 |
AGAAATTCAGCATGGCTGTAAATAGGGTTGGAATGACACC[A/G]TGAAGCACCAAAGAGTGTCATTTGTGACCTTGGCTGTCAC |
G |
G |
C__16269877_10 |
|
|
ethylmalonic
encephalopathy 1|zinc finger protein 575|hypothetical protein
LOC284346|protein expressed in thyroid |
ETHE1|ZNF575|LOC284346|YF13H12 |
Intron |
19 |
48716782 |
0.28 |
0.06 |
0.26 |
0.24 |
hCV16269877 |
CATAATAAAATGTTGGAAGAAAAATTACTCGTTTCACAAT[G/T]TTAAAAGGAGGAAGTATTGAAACCCACACTTGAGCCACAT |
G |
G |
C___1344378_10 |
rs2682563 |
|
ethylmalonic
encephalopathy 1|zinc finger protein 575|hypothetical protein
LOC284346|protein expressed in thyroid |
ETHE1|ZNF575|LOC284346|YF13H12 |
|
19 |
48729168 |
0.4 |
0.29 |
0.14 |
0.07 |
hCV1344378 |
AGTCAGCCACCGTAGGCCCCGCCACCGGCGGTGCACTTTC[T/C]GTCGATACGGTAGCTTCGCGCTTGCTCACGAACTTGCCTG |
C |
C |
C___2252906_10 |
rs25479 |
|
X-ray
repair complementing defective repair in Chinese hamster cells 1|zinc finger
protein 575|hypothetical protein LOC284346 |
XRCC1|ZNF575|LOC284346 |
Intron |
19 |
48742035 |
0.36 |
0.29 |
0.14 |
0.07 |
hCV2252906 |
CCCCTACACCCAAGGCCAGGGACACCCCAACCCCCAGCCC[C/T]AGCCCTACCTCCTCAGCTCATCCTCTGTGTCCCCAGAATC |
T |
T |
C___2533696_10 |
|
|
X-ray
repair complementing defective repair in Chinese hamster cells 1 |
XRCC1 |
Intron |
19 |
48769347 |
0.43 |
0.36 |
0.14 |
0.07 |
hCV2533696 |
AGCAGTAACCTGGCAAATGTTCTCATGGCATATTATGGGA[A/G]CACAAAAGCCAAGTGCATTTAAGGCCCTTGCTGAAGTTAG |
G |
G |
C___1802614_10 |
rs304726 |
|
zinc
finger protein 576|hypothetical protein MGC2508 |
ZNF576|MGC2508 |
|
19 |
48790743 |
0.35 |
0.19 |
0.41 |
0.32 |
hCV1802614 |
CCCAAACTCACTGGGGGAGGGATCTCATGGACCTCCATGG[A/T]CGCACCTAGGTGCCTAGGGTCTCGACTAACGGACCCAGCC |
T |
T |
C___8713042_10 |
rs1402325 |
|
hypothetical
protein MGC51082|zinc finger protein 576|hypothetical protein MGC2508 |
MGC51082|ZNF576|MGC2508 |
|
19 |
48797576 |
0.11 |
0.06 |
0.18 |
0.23 |
hCV8713042 |
GAAGAGCCAGATATTTCCTCTGGCTCCTGGTGAATGCTCC[A/G]AAGTTTCCAACCCAGATATTGTCACACTACCCCCACAGTG |
A |
A |
C___2589660_10 |
|
|
hypothetical
protein MGC51082|immunoglobulin superfamily, member 4C|TSLC1-like 2 |
MGC51082|IGSF4C|TSLL2 |
Intron |
19 |
48808796 |
0.26 |
0.18 |
0.21 |
0.1 |
hCV2589660 |
AGTACAGCCAAGTGTCAAACCCCGACTGGAATTCCCTCCA[A/G]GGAGAAGAGTGACAACCCATCTCCATCCTCATCAAGGAAG |
G |
G |
C___2589666_10 |
rs3046 |
|
hypothetical
protein MGC51082|immunoglobulin superfamily, member 4C|TSLC1-like 2 |
MGC51082|IGSF4C|TSLL2 |
|
19 |
48816575 |
0.47 |
0.37 |
0.47 |
0.47 |
hCV2589666 |
GCTTAGTATGCCTAGAACCTAACTGGAGACGGGAAATGGT[T/C]CTATAGACGATGTTAGAGTTCAACTATGGCTACATTCCAG |
T |
C |
C___2589670_1_ |
rs2240633 |
IMS-JST012258 |
hypothetical
protein MGC51082|immunoglobulin superfamily, member 4C|TSLC1-like 2 |
MGC51082|IGSF4C|TSLL2 |
Intron |
19 |
48820277 |
0.34 |
0.28 |
0.36 |
0.19 |
hCV2589670 |
GCCAGAGGGACACGGCACAGGACCAGGTCATCAGAGGACG[A/G]TCCCAGTCTGGCCCCATCGCTGCCAAGCTTTTAAGCCATT |
G |
G |
C___2589672_10 |
|
|
hypothetical
protein MGC51082|immunoglobulin superfamily, member 4C|TSLC1-like 2 |
MGC51082|IGSF4C|TSLL2 |
Intron |
19 |
48824058 |
0.33 |
0.27 |
0.36 |
0.22 |
hCV2589672 |
GCACACTAGGAGCCCAGAGCAAGGGAGGACTATTATAGAA[T/C]TGCCTAGAGAGATGGGTAGCCAGAGAGGGCTCTGCAAGAA |
C |
C |
C___2667190_1_ |
rs2239373 |
IMS-JST010503 |
plasminogen
activator, urokinase receptor |
PLAUR |
Intron |
19 |
48854873 |
0.09 |
0.12 |
0.31 |
0.32 |
hCV2667190 |
CGTCTTCTCACACAAACTTCCATGAAAATGAAAACACAAA[T/G]TCTCACCATTGCCAACATAGCTGTTCACACCTAGAACACC |
G |
G |
C_____88495_1_ |
rs2283628 |
IMS-JST033190 |
plasminogen
activator, urokinase receptor |
PLAUR |
Intron |
19 |
48854901 |
0.16 |
0.38 |
0.37 |
0.43 |
hCV88495 |
TGAAAACACAAATTCTCACCATTGCCAACATAGCTGTTCA[C/T]ACCTAGAACACCTTTTCCTTGAGCCCTACTTTCTCTAACT |
C |
T |
C____328977_10 |
rs344770 |
|
plasminogen
activator, urokinase receptor |
PLAUR |
|
19 |
48872435 |
0.33 |
0.3 |
0.1 |
0.07 |
hCV328977 |
AGGCCAGGATCTGAAAGCCACATCAGTGTGGCCTGTTAGG[C/T]GTCCCAGAAAGGGGAGGTTATGAGCGATGGCCCTTTCCCT |
A |
A |
C___2965359_10 |
rs346066 |
|
hypothetical
protein R30953_1 |
R30953_1 |
|
19 |
48909676 |
0.08 |
0.23 |
0.08 |
0.1 |
hCV2965359 |
GACCAAGAAAGAGAGCCACTGCCACCTGCACACATGCACC[A/G]ATGCAGACTGGCATGTTCCCAGGGATGCCCCTAGCAGCTC |
T |
T |
C___7828939_10 |
|
|
hypothetical
protein FLJ12886|potassiumintermediate/small conductance calcium-activated
channel, subfamily N, member 4 |
FLJ12886|KCNN4 |
|
19 |
48959719 |
0.04 |
0.06 |
0.08 |
0.09 |
hCV7828939 |
CAGACATGAATCAGAGGGCTCTGTCCTCCAGGAGCTGAGT[C/T]TCATGGTGATTTTGGCTCCTTCCTTCTCCTATTTCTGTTC |
A |
A |
C_____79364_10 |
rs3760982 |
|
potassium
intermediate/small conductance calcium-activated channel, subfamily N, member
4 |
KCNN4 |
|
19 |
48978353 |
0.46 |
0.41 |
0.2 |
0.17 |
hCV79364 |
GTCGTTTGTGGAAGGTTGGGTGTGTTGGAAAACATTGTGT[C/T]TATGTGTTTTGCGTTACTGTGTGCTGGTGTATTACTCCGT |
A |
A |
C___8713533_10 |
rs1386502 |
|
hypothetical
protein FLJ30469|potassium intermediate/small conductance calcium-activated
channel, subfamily N, member 4 |
FLJ30469|KCNN4 |
|
19 |
48985196 |
0.44 |
0.37 |
0.44 |
0.46 |
hCV8713533 |
GGTCTCAGAACCACAGACAGCAACTCAACTAACGGAGGAC[A/G]AAAGACAGGGAAATGAAGAAATACCATCTTGAACAGTGTG |
C |
T |
C___7613785_10 |
rs1565057 |
|
hypothetical
protein FLJ30469 |
FLJ30469 |
|
19 |
49025032 |
0.48 |
0.41 |
0.29 |
0.3 |
hCV7613785 |
ACATAGTACGGCTTCTTACATGCCACAGAAAGCTGGACTT[G/C]AAACAAGTCATGCTTGGAAATGTTACAGATTTCTATCTAA |
C |
C |
C___8597677_10 |
rs349036 |
|
hypothetical
protein FLJ30469 |
FLJ30469 |
|
19 |
49031800 |
0.1 |
0.02 |
0.36 |
0.29 |
hCV8597677 |
TCCAAAGACCACTGGTCTTCATCTCTTAGGAAATTCCTGG[G/A]AAGAACCACTTAACTCCCCTCTCTCTAATCTGAAGCGCCT |
C |
C |
C___8597694_10 |
rs173238 |
|
|
|
|
19 |
49036312 |
0.2 |
0.2 |
0.42 |
0.47 |
hCV8597694 |
TTTGGTGGGTTTTGTGTTACCTTGAGGGACCAGCACAGAT[A/G]ACTGCCTTGATTTTAGCCCCATCAGCCACAGCAGCTTTCC |
C |
C |
C___7613857_10 |
rs1909 |
|
|
|
|
19 |
49047357 |
0.45 |
0.41 |
0.26 |
0.31 |
hCV7613857 |
TCTTTTGATAAGCTGGTGAGGTGCTTTTGCTTGTTCCTTA[A/G]GAGGGGATTTAGTAGATGCTACTTTATAAGCTTCTTTAAC |
T |
T |
C___2301653_1_ |
|
|
|
|
|
19 |
49097967 |
|
|
0.28 |
0.14 |
hCV2301653 |
CCTCTAAACACGCAGGACGACCTGAAATCATAGCCCTTAA[C/T]AGAGCAAGTCAACCAACGGTACAGATGGTCAAGCTCTTGC |
A |
A |
C___2301652_1_ |
|
|
|
|
|
19 |
49098131 |
|
|
0.27 |
0.14 |
hCV2301652 |
CGCGAAAAACGAAAGCCCCTGTCCTCAGCTCGCACCTAGA[A/G]TACCAACCGTGGACCATACGCTGGAGCTCGCCAACTTCTC |
T |
T |
C___2652668_10 |
rs398964 |
|
zinc
finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide) |
ZNF45 |
|
19 |
49105724 |
|
|
0.28 |
0.14 |
hCV2652668 |
TTATCTCATTAAGGGCTTCTAAATCTTGGGCTGTTTGGTA[C/T]ATATGGTCTGCCAGGAATTGTGACGTTGTTTGGCTGGCAG |
G |
G |
C___2652664_1_ |
|
|
zinc
finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide) |
ZNF45 |
Mis-sense
Mutation |
19 |
49109415 |
0.49 |
0.35 |
0.27 |
0.14 |
hCV2652664 |
ATCAGCGAGTCCATGCTGATGATGAGGGTGACAAGGACTT[C/T]CCTTCATCAGAGGATTCACACAGGAAAACTCGATAAAATA |
A |
A |
C___2301625_1_ |
rs450308 |
IMS-JST010702 |
zinc
finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide) |
ZNF45 |
Intron |
19 |
49114198 |
0.49 |
0.31 |
0.29 |
0.13 |
hCV2301625 |
GTGAAGAACTACTTTTTAGAATAAAGGTTCTCATAGCCAC[T/G]TTTTAGGCAGGTCCCCAAAAACACTTTACACAAGGAAAAA |
C |
C |
C___2301623_1_ |
rs375066 |
IMS-JST066053 |
zinc
finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide) |
ZNF45 |
Intron |
19 |
49115410 |
0.49 |
0.31 |
0.29 |
0.14 |
hCV2301623 |
TAAGACAGATATGGAATTTTTAAAGTCTTTCTCCCCTGGC[A/G]AAAGTGTGTATTTTGTTAATGAACCATAAATTGACAGCAT |
T |
T |
C___2301569_10 |
rs383133 |
|
zinc
finger protein 221 |
ZNF221 |
Intron |
19 |
49158936 |
|
|
0.2 |
0.33 |
hCV2301569 |
AAACAAGAACTAAAACCAAACGGAAAGTCAATTCAAAAGC[A/C]GCAAAGGAAGCATCTGGCAAACAAAATGCCCTCAAATGCT |
G |
G |
C___2301525_10 |
rs396148 |
|
zinc
finger protein 155 (pHZ-96) |
ZNF155 |
Intron |
19 |
49186388 |
|
|
0.46 |
0.47 |
hCV2301525 |
AAACACCTGTGCCACTGTTTAATGAACATTAGCTGGAATC[T/A]TTTTTACTGTTGTTACTAGCATTATCTATTTCATGGCTGC |
A |
A |
C___2652577_1_ |
rs451388 |
IMS-JST008371 |
zinc
finger protein 155 (pHZ-96)|zinc finger protein 230 |
ZNF155|ZNF230 |
UTR
5 |
19 |
49198961 |
0.09 |
0.1 |
0.47 |
0.47 |
hCV2652577 |
AGACGCAGAAATGGCTCAAACTACGCGGTTATGTAGCAAC[C/G]GCAGGCTCACACACCGGAAGTGCTCGCGTCTCCACAGAGC |
C |
C |
C___2652575_1_ |
rs427608 |
IMS-JST008370 |
zinc
finger protein 230 |
ZNF230 |
Intron |
19 |
49204464 |
0.09 |
0.1 |
0.47 |
0.47 |
hCV2652575 |
GAATTTTGCCAATTGCCCCAGTTGCCCCAGCAACAATGAG[G/C]AATTCAGTCTCAACCTTGTTTGATGAGGCTTATTGTCCTC |
C |
C |
C___7614204_10 |
rs1474060 |
|
zinc
finger protein 222 |
ZNF222 |
Intron |
19 |
49225545 |
|
|
0.1 |
0.1 |
hCV7614204 |
TCATAAAGTTCACCAGATGAAAATACAACACTATATCTCT[G/A]TAAATATAAAGAAAGATTTCAGTAAAATCTATATTCCTTC |
C |
C |
C__25623933_10 |
|
|
zinc
finger protein 222 |
ZNF222 |
Mis-sense
Mutation |
19 |
49227839 |
0.35 |
0.28 |
0.27 |
0.39 |
hCV25623933 |
TGCTTGCAGGAAAATTCTTCATGTGTTCCTGCTTCTGGAA[C/A]AGTCTCCATCTCAGTTTGGATCTTGCCTCCTATAAGGACA |
T |
T |
C____423540_10 |
|
|
zinc
finger protein 223 |
ZNF223 |
Intron |
19 |
49256241 |
|
|
0.44 |
0.43 |
hCV423540 |
AAACTCAATGAGTTCACTAAATAAGACCACAAGACTTCTT[T/C]GTCGTTGGACTTCTGATGACGCTTGGGACAATCAAGGTGT |
T |
T |
C_____80709_10 |
|
|
zinc
finger protein 224|zinc finger protein 255 |
ZNF224|ZNF255 |
Intron |
19 |
49295225 |
0.09 |
0.32 |
0.49 |
0.49 |
hCV80709 |
GGACCTACCTTGGGAGGGGGGCATCTTCTCTTCCTGTCGT[A/G]GTACCTCTTCCATGGCCCCCAGCACTTCAGGCACCCAAGG |
G |
A |
C___2814091_10 |
rs2061332 |
|
zinc
finger protein 225|zinc finger protein 224|zinc finger protein 255 |
ZNF225|ZNF224|ZNF255 |
|
19 |
49305501 |
|
|
0.49 |
0.49 |
hCV2814091 |
GGGCAGGAGTAACATTTAAATCCTCCTCTTTATTGCTGGC[A/C]GTAAAAATATGTCTTTTGGAGAGCAGAACATGCCAGAATG |
A |
A |
C___8713543_10 |
rs1236711 |
|
zinc
finger protein 225|zinc finger protein 234 |
ZNF225|ZNF234 |
|
19 |
49329671 |
0.47 |
0.21 |
0.09 |
0.04 |
hCV8713543 |
GACAGCAGTGCGGCCTCTAACAGTCTGGAACCAGTTAGGA[A/C]AAAGAGCAGGATTGAGCGCCATTCCATTCATAGACACCGT |
A |
A |
C____453278_1_ |
rs1107064 |
IMS-JST046764 |
zinc
finger protein 226|zinc finger protein 234 |
ZNF226|ZNF234 |
Intron|UTR
5 |
19 |
49361159 |
0.07 |
0.02 |
0.49 |
0.41 |
hCV453278 |
TGGCTTTGGTGATTCAGGTCAGCTTCTCAGGAACCTTTCA[A/G]ACTTCCCCGAAATGCACTTGTGGTCAGCAGCTAGCGGTCT |
A |
G |
C__11707410_10 |
|
|
|
|
|
19 |
49403305 |
0.49 |
0.16 |
0.42 |
0.5 |
hCV11707410 |
CCCCAAGGCCCTTGAACAACAGAATCGGTAGGTACCACCA[A/G]GACAGACACTTCCACTCTAAAATTGCAAATCTTGGCTAAG |
A |
A |
C____490532_10 |
rs2051058 |
|
zinc
finger protein 227 |
ZNF227 |
Intron |
19 |
49415691 |
0.47 |
0.11 |
0.41 |
0.5 |
hCV490532 |
GAATGCTTGTACTGTTGCATGAAGAGTGAACTGGGAAAAT[G/C]TTTGGAGAGGAAAATCTGCCATTACGCTTTCAAAACTTTT |
C |
C |
C___9597131_10 |
rs922064 |
|
zinc
finger protein 227 |
ZNF227 |
Intron |
19 |
49424675 |
0.01 |
0.46 |
0.05 |
0.13 |
hCV9597131 |
GGGTTTGGACCTTTTAAAATGGTTCTTTGCTCTTGAAGAC[A/G]AAAGGTTTTCTAATCCCTGGGAAAACAGGATAGGTTTTTC |
G |
G |
C___9597104_10 |
rs1233452 |
|
zinc
finger protein 227 |
ZNF227 |
|
19 |
49435648 |
0.16 |
0.44 |
0.32 |
0.29 |
hCV9597104 |
ATGCATCCAACTAGAACTTGGGGGTTCTGTCTTTCAGAGA[C/G]AACGGGAGTATTGGATGACTGATGCCAGAGATGATTTTTG |
C |
C |
C___9596897_10 |
|
|
zinc
finger protein 233 |
ZNF233 |
|
19 |
49455904 |
0.32 |
0.22 |
0.2 |
0.27 |
hCV9596897 |
AGCCGTTGCAACCTTGTGTACTTCCGCTGCAGGAGGGCGA[G/A]GCAGCCGTCATCTATCCCCTCTGGGAGGTGAGTCAGCGCG |
A |
A |
C___9596877_10 |
rs1233441 |
|
zinc
finger protein 233 |
ZNF233 |
Intron |
19 |
49458421 |
0.33 |
0.21 |
0.18 |
0.27 |
hCV9596877 |
AGTCTGGAAATTCAGGCCTCGAAAAGTGGCCCTGGTACAT[A/G]TAGTGAGCAGAGCTGAGCCAGGCACCCCAAACCCCATTTG |
G |
G |
C___9596870_10 |
rs1233436 |
|
zinc
finger protein 233 |
ZNF233 |
Intron |
19 |
49467095 |
0.15 |
0.47 |
0.21 |
0.23 |
hCV9596870 |
ATGCCTTTACTCCTATAGGGTGTGTCAGCTATGGGAATAA[A/G]TTTTCTAATTCTTTTTCATTTATCATGTTCACTAATTGAA |
A |
A |
C__16048551_10 |
rs2609886 |
|
zinc
finger protein 235 |
ZNF235 |
Intron |
19 |
49495348 |
0.18 |
0.4 |
0.21 |
0.23 |
hCV16048551 |
AATCAGGAGGAGCCAAGCTCAACTGTTCTTTTATAGTTCA[T/C]GTCTAAAAGAAAATCATCTGTCTTGGAACAAAGGTCAGAA |
C |
C |
C__16048790_10 |
rs2609907 |
|
zinc
finger protein 235 |
ZNF235 |
|
19 |
49509705 |
|
|
0.08 |
0.19 |
hCV16048790 |
TTGTTGTCTCCAAGGAGGTAAAACCTTACCATAGTCCTAA[T/C]TGCAGTATCACATAAAGGGTCTGAACACACACGTGTATGG |
T |
T |
C___8714974_10 |
rs1582 |
|
zinc
finger protein 228 |
ZNF228 |
UTR
3 |
19 |
49522732 |
0.3 |
0.26 |
0.18 |
0.29 |
hCV8714974 |
ATTAACCAGAAACATTGTTTATCAGTTTGTACTGATATTT[C/A]AAGTGCACACATGGGTACATATACACACACACAAAGCTAA |
C |
C |
C___8714952_10 |
rs1434574 |
|
zinc
finger protein 228 |
ZNF228 |
Intron |
19 |
49539926 |
0.34 |
0.38 |
0.18 |
0.3 |
hCV8714952 |
GGACAGCAGAGATTACTGCTCTGTCCCGGGAAAGTCACCC[G/T]TAACTTCGGAATGTCTGTAGCTCTGGCTTCTTACTTTTGT |
G |
G |
C__11707438_10 |
rs2196186 |
|
zinc
finger protein 228 |
ZNF228 |
Intron |
19 |
49542638 |
0.48 |
0.13 |
0.26 |
0.49 |
hCV11707438 |
ATTCTCCCACATCTATTTTCAGAAAATTTGAATATACTCT[T/C]ACTGAGTTGAAGGTCCCCATTCCTGCTGCCTGCTGGAAAG |
C |
C |
C___2596827_10 |
rs1062098 |
|
|
|
|
19 |
49622578 |
0.32 |
0.11 |
0.31 |
0.36 |
hCV2596827 |
AACTCTCCTGGTTCACTAAATACTTCATGAGCAACCTGCA[C/T]TGTCATTATCTGTGTGCCTGAAGATTTCTAGTGGCTTTCC |
C |
C |
C___2596825_10 |
|
|
|
|
|
19 |
49625787 |
0.33 |
0.09 |
0.3 |
0.34 |
hCV2596825 |
CTATAGGGCATGTCTCCCACAGGGGCTCTGGGGTGGTTAC[G/A]TATGTGCGTGTTCTGTCTGACGCCCCGACCACGCTCAAGA |
A |
A |
C__11977197_10 |
rs542150 |
|
|
|
|
19 |
49659293 |
0.37 |
0.07 |
0.13 |
0.15 |
hCV11977197 |
CTGTCTACCCACTTTGGTCTACCTGCAGTCTGAGGATATT[T/C]ATAGCTCAGTATACTGTGAGCATTTGCAGAGCAGAGAATG |
C |
C |
C____404040_10 |
rs2571051 |
|
zinc
finger protein 180 (HHZ168) |
ZNF180 |
|
19 |
49671283 |
|
|
0.38 |
0.44 |
hCV404040 |
GAGTAACTAAAACTTTGCCTCATGAAAGCATTTTTGCAAG[C/T]ATAATTTAGACGGTCAGCACTGAGCCAGGGAAGCACCCTT |
C |
C |
C____404034_10 |
rs2571045 |
|
zinc
finger protein 180 (HHZ168) |
ZNF180 |
Intron |
19 |
49677351 |
0.4 |
0.38 |
0.39 |
0.48 |
hCV404034 |
GATACAGGGTCCTGAATGCCATGAAAACACATGCAAAATA[T/C]TGCTGTATATGCCTCTAAGTTTGAGCCTAAAAATTTCACT |
C |
C |
C___1829134_10 |
rs2571116 |
|
zinc
finger protein 180 (HHZ168) |
ZNF180 |
Intron |
19 |
49687296 |
0.31 |
0.45 |
0.07 |
0.15 |
hCV1829134 |
CGTGCATGCATGCACACCCACACACCCTGAATTTTTCCCC[A/G]GGTTCTACTCACTTTGGATTACTGACCATTTTAGGAATAT |
A |
A |
C____404020_10 |
|
|
zinc
finger protein 180 (HHZ168) |
ZNF180 |
Intron |
19 |
49691334 |
0.39 |
0.11 |
0.12 |
0.15 |
hCV404020 |
|
#N/A |
#N/A |
C___1829155_10 |
|
|
zinc
finger protein 180 (HHZ168) |
ZNF180 |
|
19 |
49703567 |
0.13 |
0.21 |
0.3 |
0.29 |
hCV1829155 |
TATCTGATATTTCTCAGTGTTCTCTCAATTAATCCCCATT[C/T]GAACTACATTCAAAGGGTTTAACTTTCTTAACATTAAAAA |
T |
T |
C_____52720_10 |
|
|
GPAD9366 |
UNQ9366 |
Mis-sense
Mutation |
19 |
49721048 |
0.13 |
0.41 |
0.17 |
0.23 |
hCV52720 |
GGTCCCAAACACAGGCAGAACAACATCCTCACTTTGGGTG[A/G]CATCAAGTGGGTTGGCATTGAGGGTGAGCTGGGCTGCAGC |
A |
A |
C___8710682_10 |
rs1727731 |
|
GPAD9366 |
UNQ9366 |
|
19 |
49729208 |
0.07 |
0.04 |
0.31 |
0.24 |
hCV8710682 |
GTCTCAGCCATGCAGGCTGGCTCAAAATTGTGTCTTCCCA[C/T]GGGACTGACCTCCCAGCCCAGGATGCTGCCCTATGACTGT |
T |
T |
C___7825974_10 |
rs1727750 |
|
GPAD9366 |
UNQ9366 |
|
19 |
49740706 |
0.16 |
0.43 |
0.16 |
0.15 |
hCV7825974 |
CTTTCCTTTCTCGCTGACCTGCATTACACCCAGGGTGATC[T/G]CCCACACAGCTGAGTTGTACCCTCTGTAGCTCCTACGAAT |
G |
G |
C___7825992_10 |
rs1727760 |
|
GPAD9366 |
UNQ9366 |
|
19 |
49757441 |
|
|
0.38 |
0.29 |
hCV7825992 |
TAATAAAGGATTGAAACAAAACAGCTCTACACACATAAAT[C/T]TGATAATTTACATAAAAAGAACTAATTCCTCAAAAAAGCA |
T |
T |
C___8710882_10 |
rs846857 |
|
|
|
|
19 |
49818834 |
0.19 |
0.22 |
0.31 |
0.29 |
hCV8710882 |
TTCTGAGTGGACTCCACTCTTGTGGCCTTGTTCCCTGTTT[G/A]CACAGACAGCCTCCAACTAATGCCACTGAAGACATTCCCA |
A |
A |
C___7826183_10 |
|
|
|
|
|
19 |
49825315 |
0.23 |
0.49 |
0.4 |
0.49 |
hCV7826183 |
GTGAGGAAGAGAAATCTGTAGGTGGTAGTGGTTTAGGGAG[A/G]CATTGTGGACCAGCTGGGAGGAACTGGGGCCAGGTCTCCA |
G |
G |
C___1828143_10 |
|
|
poliovirus
receptor |
PVR |
Intron |
19 |
49854029 |
0.18 |
0.13 |
0.27 |
0.31 |
hCV1828143 |
CTGTCATCTGTGTCCCTCGAGTGAGCATCACCAGAGCTGC[A/C]GTAATTGAGCACCTACTACGGGCTCTGTGCTGAGTCCTTC |
A |
A |
C___9601733_10 |
rs1550551 |
|
poliovirus
receptor |
PVR |
|
19 |
49867156 |
0.01 |
0.08 |
0.01 |
0.08 |
hCV9601733 |
CCTAAAGGCCAAGGGGAGAAATGGGGACTCAGCCCAGAGA[C/T]TGAAGTTTCCTCTTAGAAGTAGGGAAAGATTACCTGAGAG |
C |
C |
C___7875522_10 |
|
|
poliovirus
receptor |
PVR |
|
19 |
49868180 |
0.02 |
0.48 |
0.01 |
0.08 |
hCV7875522 |
CAGGTGCTGTGCAAACACCATTTCATTTGGTCCTCTCATT[C/T]ATTCACTTGACACATATTGAGCATCTACTGTGTACCAATC |
C |
C |
C___7826271_10 |
rs2919847 |
|
|
|
|
19 |
49896162 |
0.44 |
0.14 |
0.37 |
0.34 |
hCV7826271 |
GGTGGGGCTGGGAAAGGTGCAGTCACCTTTTACTGATTTT[C/A]TTCCTTGGTGACTCCCAGGCTCTCTGAGGAGGCCACGGGC |
A |
A |
C___8710966_10 |
|
|
|
|
|
19 |
49898535 |
0.07 |
0.24 |
0.02 |
0.08 |
hCV8710966 |
CCCTGGAGCCTGCCCAGCCGAGCGAAGGGGACAACGTCAC[A/G]CTGGTCGTCCATGGGCTTTCGGGGGAACTGCTCGCCTACA |
A |
A |
C___8710989_10 |
rs1531517 |
|
B-cell
CLL/lymphoma 3 |
BCL3 |
|
19 |
49934013 |
|
|
0.18 |
0.19 |
hCV8710989 |
TCCCCACCTCCCTGGTGAATCCTAGAATCAGGGAACTTCT[G/A]CAGGAGGACACCACGGTTCCCCAGCCCTGGGACTTCCCTT |
A |
A |
C___8711000_10 |
rs1382091 |
|
B-cell
CLL/lymphoma 3 |
BCL3 |
Intron |
19 |
49950244 |
0 |
0.13 |
0.08 |
0 |
hCV8711000 |
CCACCCCATGCAAACAGCACAGGCGTGCACAAGCACGCAC[G/T]CATGCACACACACCAGTCTCTGAATAGCTGTTCTAGGTTG |
T |
T |
C__11524822_10 |
rs2965118 |
|
Cas-Br-M
(murine) ecotropic retroviral transforming sequence c |
CBLC |
Intron |
19 |
49984129 |
0.08 |
0.42 |
0.06 |
0.08 |
hCV11524822 |
CACTAGCCTCAGGGAGTCTGAGGGTCCAATATTTCATGTG[G/C]TATACATGTCGGAATAACTGGAGTAGCATTGAGGCATGCC |
G |
G |
C____905005_1_ |
rs748913 |
IMS-JST063673 |
Cas-Br-M
(murine) ecotropic retroviral transforming sequence c|Lutheran blood group
(Auberger b antigen included) |
CBLC|LU |
Intron |
19 |
49995418 |
0 |
0.07 |
0.07 |
0.1 |
hCV905005 |
TGGGACTCCCAGGTCTAAGACAAAGGGGACAGGGAAGAGG[G/C]GCAGAGGGAAAGATTGGATGCCGGGAATCAACCGCCCTCT |
C |
C |
C___8711074_10 |
rs922387 |
|
Cas-Br-M
(murine) ecotropic retroviral transforming sequence c|Lutheran blood group
(Auberger b antigen included) |
CBLC|LU |
|
19 |
50003954 |
0 |
0.18 |
0.09 |
0.1 |
hCV8711074 |
GCGATTGCCTGGTGAGATCCCAGCTCGGGTCACTGGCTAC[A/G]CTGGTCGATCAGGCCCCCCGCTGCAGGCGCTGGTCAGTAA |
A |
A |
C___1846428_10 |
|
|
Lutheran
blood group (Auberger b antigen included) |
LU |
Mis-sense
Mutation |
19 |
50014584 |
0.37 |
0.37 |
0.13 |
0.06 |
hCV1846428 |
CAACCCCCACGGGAACAAGCGCCATGTCTTCCACTTCGGC[A/G]CCGGTGAGTGACTGAGGTGGTGGCAGAGGAGCCGGGTGTG |
G |
G |
C__11711387_10 |
|
|
poliovirus
receptor-related 2 (herpesvirus entry mediator B) |
PVRL2 |
|
19 |
50034470 |
0.14 |
0.28 |
0.26 |
0.24 |
hCV11711387 |
ATGAGTGGAGGATCCCAGCCTGCCCCACCAGGAGGGAATA[C/T]ATTTGCATAAGGTCCCTCATCTGCATGGCATCCCAGGGAA |
T |
T |
C___1846421_10 |
rs1871047 |
|
poliovirus
receptor-related 2 (herpesvirus entry mediator B) |
PVRL2 |
Intron |
19 |
50043586 |
0.37 |
0.19 |
0.18 |
0.17 |
hCV1846421 |
GGAAGTGCCTCTGAGTTTCCATTTCCTCCCTCGTAAAAAA[G/A]CTGAGATAACAATCCTTTCCCTGCGGACCATCCGGAAGGC |
G |
G |
C__11711400_10 |
rs2927466 |
|
poliovirus
receptor-related 2 (herpesvirus entry mediator B) |
PVRL2 |
Intron |
19 |
50050988 |
|
|
0.06 |
0.03 |
hCV11711400 |
GGGCAGACCCTCTAGCACCCAGGACCTGTTTGTTGAGTAA[C/G]TATTTGTTTTTTGGATTTGACCTATAAGATGTGAAAGAAC |
G |
G |
C___1846366_10 |
rs395908 |
|
poliovirus
receptor-related 2 (herpesvirus entry mediator B) |
PVRL2 |
Intron |
19 |
50065405 |
0.15 |
0.19 |
0.14 |
0.21 |
hCV1846366 |
GGCTCGGGCCCTGAGTCACTATTCTAACAGCTTGGAGGGC[A/G]GCCAGGAGGATGTGGGGAGGCTTGTTGGATGCTCCACGAT |
A |
A |
C___1846338_1_ |
rs3745150 |
|
poliovirus
receptor-related 2 (herpesvirus entry mediator B)|translocase of outer
mitochondrial membrane 40 homolog (yeast) |
PVRL2|TOMM40 |
|
19 |
50077599 |
0.44 |
0.33 |
0.28 |
0.21 |
hCV1846338 |
GTGTGAAACAGACAGACCTAAAGGAACTGGGGTCTAAATG[G/C]AGTAGGGAGGTATGGGTTTCTCTCTGCTATAAAGTATGGC |
C |
C |
C__11466079_1_ |
rs157580 |
|
poliovirus
receptor-related 2 (herpesvirus entry mediator B)|translocase of outer
mitochondrial membrane 40 homolog (yeast) |
PVRL2|TOMM40 |
Intron |
19 |
50087106 |
0.4 |
0.13 |
0.36 |
0.49 |
hCV11466079 |
CAACTGAGGCCCAAGGTCACGGTGTCAGCAAGGTGTCAGC[A/G]AGGTTCCTTGGGTATGGGACCCAAAGCCTCCGGATCCCAG |
A |
A |
C___3084827_10 |
rs157581 |
|
poliovirus
receptor-related 2 (herpesvirus entry mediator B)|translocase of outer
mitochondrial membrane 40 homolog (yeast) |
PVRL2|TOMM40 |
Mis-sense
Mutation |
19 |
50087554 |
0.15 |
0.42 |
0.12 |
0.31 |
hCV3084827 |
GTGTCAAGCTCACAGTCAACAAAGGGTTGAGTAACCATTT[T/C]CAGGTGAGCCTTCCTGGTGTCCTTACCCACCAGAGATCGT |
C |
C |
C___3084823_1_ |
|
|
poliovirus
receptor-related 2 (herpesvirus entry mediator B)|translocase of outer
mitochondrial membrane 40 homolog (yeast) |
PVRL2|TOMM40 |
Intron |
19 |
50090104 |
|
|
0.34 |
0.29 |
hCV3084823 |
GATGTTGTTTGAAGGCAGAGCTGCCAGGATTTGTTGAGAC[C/T]GGATGGAGGCGATGACTCTGTAGTTTTTGGCTGGAACTGG |
T |
T |
C___3084821_1_ |
rs157590 |
|
poliovirus
receptor-related 2 (herpesvirus entry mediator B)|translocase of outer
mitochondrial membrane 40 homolog (yeast) |
PVRL2|TOMM40 |
Intron |
19 |
50090556 |
0.45 |
0.13 |
0.34 |
0.29 |
hCV3084821 |
TAGGTGAGGCTGATCTGTAGGGGCCCCATGAGGAAGAAAC[C/A]TTTCCTGTCCCCAACTCACCTGGTGACATCACCCCATCTT |
C |
C |
C____905012_10 |
rs440446 |
|
apolipoprotein
C-I|apolipoprotein E|translocase of outer mitochondrial membrane 40 homolog
(yeast) |
APOC1|APOE|TOMM40 |
Intron |
19 |
50101007 |
|
|
0.21 |
0.17 |
hCV905012 |
TGAGCTCAGGGGCCTCTAGAAAGAGCTGGGACCCTGGGAA[C/G]CCCTGGCCTCCAGGTAGTCTCAGGAGAGCTACTCGGGGTC |
C |
C |
C____904973_10 |
rs7412 |
|
apolipoprotein
C-I|apolipoprotein E|translocase of outer mitochondrial membrane 40 homolog
(yeast) |
APOC1|APOE|TOMM40 |
Mis-sense
Mutation |
19 |
50103919 |
0.02 |
0.13 |
0.07 |
0.1 |
hCV904973 |
GCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAG[T/C]GCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGA |
#N/A |
#N/A |
C___1841831_10 |
rs2304180 |
|
apolipoprotein
C-II|apolipoprotein C-IV|cleft lip and palate associated transmembrane
protein 1 |
APOC2|APOC4|CLPTM1 |
Mis-sense
Mutation |
19 |
50139876 |
0.38 |
0.26 |
0.27 |
0.33 |
hCV1841831 |
TTCCACCTAGCATGCCAGCCAGAGGCCCAGGAAGGAACCC[C/T]GAGCCCCCCACCAAAGCTAAAGATGAGTCGCTGGAGCCTG |
T |
T |
C___7837381_10 |
rs5120 |
|
apolipoprotein
C-II|apolipoprotein C-IV|cleft lip and palate associated transmembrane
protein 1 |
APOC2|APOC4|CLPTM1 |
Intron |
19 |
50143460 |
0.4 |
0.29 |
0.37 |
0.34 |
hCV7837381 |
TCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGC[A/T]CACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGG |
T |
T |
C___2769089_10 |
rs204911 |
|
cleft
lip and palate associated transmembrane protein 1 |
CLPTM1 |
Intron |
19 |
50155380 |
|
|
0.07 |
0.16 |
hCV2769089 |
CACCCACTCCAAAGTGGATCCCTGTTCCCAACTCAGTTGC[A/T]GTCACTTCCCCCTGCTTGTTTTCCATGTACCATTTTTAAT |
A |
A |
C__11711561_10 |
rs2075620 |
|
cleft
lip and palate associated transmembrane protein 1 |
CLPTM1 |
Intron |
19 |
50171877 |
0.21 |
0.25 |
0.49 |
0.49 |
hCV11711561 |
|
#N/A |
#N/A |
C___2350854_1_ |
|
|
cleft
lip and palate associated transmembrane protein 1 |
CLPTM1 |
Intron |
19 |
50180407 |
0.03 |
0.13 |
0.06 |
0.14 |
hCV2350854 |
CAGGAGAGACAGAAGCGGACCCAGAAATGATCAAGGTAAA[C/T]GGGCAGGGTTGTCAGGGCCTATAGGGACCAAGCCAGGCCA |
T |
T |
C___7837099_10 |
rs874743 |
|
v-rel
reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light
polypeptide gene enhancer in B-cells 3 (avian) |
RELB |
Intron |
19 |
50205076 |
0.01 |
0.29 |
0.11 |
0.11 |
hCV7837099 |
CAGGACTGTGGAGGGATTTGAACGAAGTCATGCTCCTAAG[A/G]TACTTAGCAGTGCTTGACACTTGGAAAACACTCAGCACGC |
A |
A |
C___7817439_10 |
|
|
splicing
factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog,
Drosophila)|suppressor of white apricot homolog 2 |
SFRS16|SWAP2 |
Intron |
19 |
50248502 |
0.42 |
0.37 |
0.23 |
0.48 |
hCV7817439 |
TGTCTGCCGAATGGGTTGTTCCCAGCAGAGTCACGTCCAT[A/G]TACCATGCCTTCTGACTCTGTGGTCCGTTTTTCTTTAAAA |
G |
G |
C__11711616_10 |
|
|
zinc
finger protein 342|splicing factor, arginine/serine-rich 16
(suppressor-of-white-apricot homolog, Drosophila)|suppressor of white apricot
homolog 2 |
ZNF342|SFRS16|SWAP2 |
Intron |
19 |
50260849 |
0.43 |
0.49 |
0.2 |
0.47 |
hCV11711616 |
GCAGCGACGCTGGGTTGGTAGGAGCATAGACTGCAGGGCA[C/T]CTGCCTGAGTGTAGAGTCCCTGGGCCTCTAATTCTGTAAA |
T |
T |
C__11711738_10 |
|
|
gem
(nuclear organelle) associated protein 7|zinc finger protein 342 |
GEMIN7|ZNF342 |
|
19 |
50294621 |
0.42 |
0.21 |
0.13 |
0.14 |
hCV11711738 |
CGGGGGCTCCACCACCCCAGCCCCCTGCCCTGTTGGAGCA[C/T]GATCAGGTTAGTGGTGGTATTGTGCTGGTGCCTGTCCTCT |
C |
C |
C___7817522_10 |
|
|
|
|
|
19 |
50300741 |
|
|
0.22 |
0.15 |
hCV7817522 |
CCGGCCACCCAGCCAAGCTTCCATGACTCCGTTCTCACTC[C/T]GTGTTCTGTAATCCCCTTCTGTCACGGGCTTGGGATCCTT |
C |
C |
C___7817533_10 |
|
|
|
|
|
19 |
50311786 |
0.31 |
0.17 |
0.16 |
0.05 |
hCV7817533 |
GAGAAGGGAAGGGTGGACGTTGTCTTCATTTCCCAGAGTG[A/G]GTCGGTGCATTCGTTCATTCATAGACTCACAGCGACAGAC |
G |
G |
C____446340_10 |
rs1048699 |
|
|
|
|
19 |
50342226 |
0.08 |
0.04 |
0.03 |
0.08 |
hCV446340 |
AGGGAGCTGGGGCGGGAGCAGCCGGCACTCCGGGACCCTG[T/C]TGTCCAGGCCACTGGAGGCTGCGCCCTGAGAGGCACTACA |
T |
T |
C___2589641_10 |
rs1005204 |
|
|
|
|
19 |
50342528 |
0.35 |
0.23 |
0.27 |
0.26 |
hCV2589641 |
GGCATTACTGCGTCTTCCCCCACAGTCCCGTCTATTCTGC[A/G]TCCATGCTCTGGTGTCTCGTACGGTCACCTCCCAGCCAGG |
G |
G |
C___2589647_10 |
|
|
hypothetical
protein MGC2650|FLJ33600 protein |
MGC2650|FLJ33600 |
|
19 |
50351976 |
0.4 |
0.22 |
0.28 |
0.14 |
hCV2589647 |
ACGGGCCACACCTGGCGGCAGAGCCAGGAGGCCAGGAAGC[C/A]GACTCAGGAGTAGTTCTACTGAGGTGTGGGTAGGCGGGTC |
C |
C |
C__11711801_10 |
|
|
hypothetical
protein MGC2650 |
MGC2650 |
Intron |
19 |
50368134 |
|
|
0.16 |
0.07 |
hCV11711801 |
CACACCCTCCTCAGATAAGGGGCTGCCCAAGTGCACTCTC[G/C]GGGTGTGGTGGATGGAGGCCTGGCGCAGCAGGGCTATTCT |
C |
C |
C___2596403_10 |
|
|
hypothetical
protein MGC2650 |
MGC2650 |
|
19 |
50382615 |
0.06 |
0.07 |
0.16 |
0.13 |
hCV2596403 |
GCTGCAGGCATCGCACACTGACCCAGGGCCCTTTGTGATC[A/G]CCCTTCACCTGGCCCCATCTGGTCTCCTTGGGACTGTTGG |
G |
G |
C____432941_10 |
|
|
hypothetical
protein MGC2650 |
MGC2650 |
|
19 |
50382880 |
0.13 |
0.14 |
0.37 |
0.25 |
hCV432941 |
TAAAGTCCTCACTTGGGTACCTGTGGGGGATTCCTTCCAG[G/T]ACCCCCACTGATGCCCCAGACCCTAATACAAAATGGCCTA |
T |
T |
C___3144909_10 |
|
|
protein
7 transactivated by hepatitis B virus X antigen (HBxAg)|hypothetical protein
MGC16332 |
XTP7|MGC16332 |
|
19 |
50406818 |
0.38 |
0.06 |
0.02 |
0.22 |
hCV3144909 |
CAGCCTTGGGCTCCGAGAGTCCCTCGTCTCTACCTCCCCA[A/C]GTTCAAATGTGCATGCGTGAAGTTCCAAACCCAGCCCCAG |
C |
C |
C___3144945_10 |
rs346742 |
|
MAP/microtubule
affinity-regulating kinase 4 |
MARK4 |
|
19 |
50440084 |
0.45 |
0.41 |
0.09 |
0.14 |
hCV3144945 |
CCCATCTCCGAGACCCCATCTCTTGGGATAGAACAAATAC[T/C]CGATCCTTCCTGGCCTCAGTCTTCCCGCCCAGACTCGCAG |
T |
T |
C___3144887_10 |
|
|
MAP/microtubule
affinity-regulating kinase 4 |
MARK4 |
Intron |
19 |
50454534 |
0.22 |
0.18 |
0.1 |
0.15 |
hCV3144887 |
TTGCCGGGAAATCTCAGATCACAGGCAGTCCAATGTGTGC[A/G]TTGCTAAGGATGCATGTGGCTTTTGTAGATAAACCTGAGC |
A |
A |
C___3144960_1_ |
rs2240672 |
IMS-JST012307 |
MAP/microtubule
affinity-regulating kinase 4 |
MARK4 |
Intron |
19 |
50461415 |
0.29 |
0.3 |
0.1 |
0.13 |
hCV3144960 |
TGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCAC[A/G]GCTCAGCCCACAGACTTCTCCCTGCCCCCACCCCTCCATG |
A |
A |
C___3144974_10 |
rs345409 |
|
MAP/microtubule
affinity-regulating kinase 4 |
MARK4 |
Intron |
19 |
50471475 |
|
|
0.1 |
0.13 |
hCV3144974 |
TTTTATTCAGATGGAAAGAGCTCCCCCTGGTCTGCCAAGC[C/T]ATGGATTTATCTTATTTTTCACAGCTTTGGTAGGGCCTCT |
C |
C |
C____344958_10 |
|
|
MAP/microtubule
affinity-regulating kinase 4 |
MARK4 |
Intron |
19 |
50480452 |
0.32 |
0.39 |
0.07 |
0.16 |
hCV344958 |
TCCTTGGTCCACTCATCAGGATCAGGATGGAGCTCTGATA[T/C]CGAGTCCAGTTGGGATTAATCTGCTGTAATGGGGGCACAG |
C |
C |
C___3144978_10 |
|
|
MAP/microtubule
affinity-regulating kinase 4 |
MARK4 |
Intron |
19 |
50485547 |
|
|
0.14 |
0.13 |
hCV3144978 |
GACAGGGCCCCACTGAAGCTTTGACCACAAGTGTCCACCT[G/T]TTACCAGTGGCAGCCAGCTGTGGCCAGCATTAACCAGCCT |
T |
T |
C___3144979_10 |
|
|
MAP/microtubule
affinity-regulating kinase 4 |
MARK4 |
Intron |
19 |
50485672 |
0.26 |
0.08 |
0.07 |
0.16 |
hCV3144979 |
TGACTGTGACCGGCTTTGACCAGCCTTGACTGGCCGTGAC[A/T]ACCCTTGGCCAACGGTATCTGGCTGTGACCAGTGGTGTCT |
T |
T |
C____958440_10 |
rs344797 |
|
MAP/microtubule
affinity-regulating kinase 4|creatine kinase, muscle |
MARK4|CKM |
UTR
3 |
19 |
50499982 |
0.26 |
0.24 |
0.2 |
0.3 |
hCV958440 |
CAAGAGAGAGGACAGGTCCTCAACAAATGGCATGTGACTT[T/G]GTAAGTGTAGAATTGCTGTGAGGTATGGGGCTAGGGGCGT |
G |
G |
C___8711977_10 |
rs454421 |
|
excision
repair cross-complementing rodent repair deficiency, complementation group 2
(xeroderma pigmentosum D)|kinesin light chain 2-like |
ERCC2|KLC2L |
Intron |
19 |
50536490 |
0.29 |
0.27 |
0.31 |
0.4 |
hCV8711977 |
AATGGTGTGTGTGTAGAATTGGATTGCTGGTAGCACTTTA[T/C]GACCAAGAGCTAGTGCGACTGTAGTCGACTTTCTGCTTGG |
T |
T |
C__11973888_10 |
|
|
excision
repair cross-complementing rodent repair deficiency, complementation group 2
(xeroderma pigmentosum D)|kinesin light chain 2-like |
ERCC2|KLC2L |
Intron |
19 |
50542773 |
0.24 |
0.08 |
0.19 |
0.14 |
hCV11973888 |
GGACCCTGAATGTGACAGTGCAGGTGAGGCTGGGAGCCAC[G/A]AAGACAGGGTAGCCGCTATGAGCCTGGCAGGCCCCGTATT |
G |
G |
C___3145033_10 |
|
|
excision
repair cross-complementing rodent repair deficiency, complementation group 2
(xeroderma pigmentosum D)|kinesin light chain 2-like |
ERCC2|KLC2L |
Nonsense
Mutation |
19 |
50546759 |
0.41 |
0.13 |
0.07 |
0.06 |
hCV3145033 |
CGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCT[G/T]CAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGG |
G |
G |
C___2615637_10 |
rs6966 |
|
RelA-associated
inhibitor|excision repair cross-complementing rodent repair deficiency,
complementation group 2 (xeroderma pigmentosum D) |
RAI|ERCC2 |
UTR
3 |
19 |
50574802 |
0.15 |
0.33 |
0.43 |
0.42 |
hCV2615637 |
AAGGAAAGTTTCTCTATTTTGTTTATAAACATTAAACCAG[T/A]GCTGTGTGAAGGCACTTAATTGGGGAGAGGTGGGGCAGGG |
A |
A |
C____341729_10 |
rs735482 |
|
CD3-epsilon-associated
protein; antisense to ERCC-1|RelA-associated inhibitor|excision repair
cross-complementing rodent repair deficiency, complementation group 1
(includes overlapping antisense sequence) |
ASE-1|RAI|ERCC1 |
Mis-sense
Mutation |
19 |
50603842 |
0.15 |
0.31 |
0.47 |
0.49 |
hCV341729 |
TTCCCGTCCACCACCAAGAAGAGGAAGAAGCCCAAAGGGA[A/C]AGAAACCTTCGAGCCAGAAGACAAGACAGTGAAGCAGGAA |
C |
C |
C___2532959_1_ |
|
|
CD3-epsilon-associated
protein; antisense to ERCC-1|excision repair cross-complementing rodent
repair deficiency, complementation group 1 (includes overlapping antisense
sequence) |
ASE-1|ERCC1 |
Mis-sense
Mutation |
19 |
50615493 |
|
|
0.27 |
0.26 |
hCV2532959 |
GCACATAGTCGGGAATTACGTCGCCAAATTCCCAGGGCAC[G/A]TTGCGCACGAACTTCAGTACGGGATTGCCCCTCTGGGGAG |
A |
A |
C___2532960_1_ |
|
|
excision
repair cross-complementing rodent repair deficiency, complementation group 1
(includes overlapping antisense sequence) |
ERCC1 |
Intron |
19 |
50616202 |
|
|
0.25 |
0.26 |
hCV2532960 |
TGAATGGGGAGAACAAAGTGGCTGGAACTCAGACCTCCTT[G/C]CACTGGAGTCATCCCTAGAACAGCGTTTCCCACTGAAAAC |
G |
G |
C___2532964_10 |
rs1319052 |
|
excision
repair cross-complementing rodent repair deficiency, complementation group 1
(includes overlapping antisense sequence) |
ERCC1 |
|
19 |
50623061 |
|
|
0.26 |
0.26 |
hCV2532964 |
GCCCGCCGCCTGCGATCAGTGGAATTCTGAATCGGTTAAC[A/G]TTAGTTAAGAGCGAGGGGAAAAAATTGCCCTGGGTTCTAC |
G |
G |
C___2533062_1_ |
rs2238687 |
|
FBJ
murine osteosarcoma viral oncogene homolog B |
FOSB |
Intron |
19 |
50665006 |
|
|
0.48 |
0.22 |
hCV2533062 |
GCCCCCCGAGAGAGTAGTTAAGCCTTCAGAGCAGTTCCAG[G/C]AGTCCATTTACGGGAGGGGGGAGATGAGCGCTGCTGAGGC |
G |
C |
C___2533063_1_ |
rs2276469 |
IMS-JST073085 |
FBJ
murine osteosarcoma viral oncogene homolog B |
FOSB |
Intron |
19 |
50666433 |
0.47 |
0.33 |
0.38 |
0.37 |
hCV2533063 |
CCAGGCGGTGAGGACAGGCCCTGGGGTGGGAGAGGGGATG[T/C]TGAGGGGAGCTCTCTCCCCATTCTCTGCCCCCTCTCCACC |
T |
T |
C___2533068_10 |
|
|
FBJ
murine osteosarcoma viral oncogene homolog B|reticulon 2|G protein-coupled
receptor 4 |
FOSB|RTN2|GPR4 |
|
19 |
50671275 |
0.47 |
0.32 |
0.42 |
0.48 |
hCV2533068 |
TTTTCCATATGACCACTATTGGGGCCAACCCAAGACTGAC[C/T]GAAGCAAATATATGACCATTTTTTTTTTTTACACATAGAG |
T |
C |
C___2533076_10 |
|
|
FBJ
murine osteosarcoma viral oncogene homolog B|reticulon 2|G protein-coupled
receptor 4 |
FOSB|RTN2|GPR4 |
|
19 |
50674213 |
0.07 |
0.05 |
0.25 |
0.17 |
hCV2533076 |
GGGTTCCTGTTAGAGTCTGATTCACCCTGGCCCCAAAGGC[G/T]CTGAGCAGGCGGCTATAGGGCTGGTGCGACACCTGCTGTT |
G |
G |
C__11711996_1_ |
rs2298887 |
|
hypothetical
protein FLJ40125|reticulon 2|G protein-coupled receptor 4 |
FLJ40125|RTN2|GPR4 |
Intron |
19 |
50690186 |
0.13 |
0.26 |
0.01 |
0.22 |
hCV11711996 |
CTGAGCTGCCCAGCCCTGAGCCCCTTCACATGCTCCCCAC[A/C]ACTTACCTTCTGTGGAATCAGGAGTTGAGGAGGCTGTAGA |
A |
A |
C___2658154_10 |
|
|
optic
atrophy 3 (autosomal recessive, with chorea and spastic
paraplegia)|vasodilator-stimulated phosphoprotein|G protein-coupled receptor
4|reticulon 2 |
OPA3|VASP|GPR4|RTN2 |
Intron |
19 |
50718810 |
0.15 |
0.28 |
0.37 |
0.2 |
hCV2658154 |
ACCCCCAAGGATGAATCTGCCAATGTAAGTCAGGGACTCT[A/T]CTTGCCCTACATCTCTTAGGCCGTACCATGAGGGTAGGGA |
A |
A |
C__11712027_10 |
|
|
optic
atrophy 3 (autosomal recessive, with chorea and spastic
paraplegia)|vasodilator-stimulated phosphoprotein|G protein-coupled receptor
4|reticulon 2 |
OPA3|VASP|GPR4|RTN2 |
|
19 |
50724681 |
0.46 |
0.32 |
0.27 |
0.28 |
hCV11712027 |
GCAATGGGGATGTGGTCACCACAATCGGACGCGTGCTGGC[G/C]GGGACGCCTTAACGAAGACAAGTGCAGGCCTCACACCCAG |
C |
C |
C___8713933_10 |
rs892100 |
|
optic
atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)|G
protein-coupled receptor 4|reticulon 2 |
OPA3|GPR4|RTN2 |
Intron |
19 |
50772522 |
0.2 |
0.09 |
0.18 |
0.35 |
hCV8713933 |
ATTCCAATCACCATGGCTGGGGGCCACAGCAAAGGGCAAT[T/C]AGCAGTGTGAAGACACTAATGATGTAATTAAAAGGTGTAA |
C |
C |
C___8713932_10 |
rs1045217 |
|
G
protein-coupled receptor 4|optic atrophy 3 (autosomal recessive, with chorea
and spastic paraplegia)|reticulon 2 |
GPR4|OPA3|RTN2 |
UTR
3 |
19 |
50785051 |
0.23 |
0.23 |
0.46 |
0.32 |
hCV8713932 |
TACCCTTTCTTCTTGTCCCACACCTTCTTCCCAAACCTTC[C/T]GGCATCACTCCTCCAGGCAGTCTGCCCTGATTGCCCTTCA |
T |
C |
C___7830566_10 |
|
|
G
protein-coupled receptor 4|echinoderm microtubule associated protein like
2|reticulon 2 |
GPR4|EML2|RTN2 |
|
19 |
50796524 |
0.18 |
0.03 |
0.19 |
0.22 |
hCV7830566 |
GGCAGGAATTCCTGAAATTGGCGGGCGGGCTGGGTGCGAC[T/C]TGAGGGGCAGTGGGGTGGCTCCGTGAAGGGGGCGCTGGGA |
T |
T |
C___7796102_10 |
|
|
echinoderm
microtubule associated protein like 2|G protein-coupled receptor 4|reticulon
2 |
EML2|GPR4|RTN2 |
Intron |
19 |
50812860 |
0.47 |
0.12 |
0.26 |
0.08 |
hCV7796102 |
GGGCTCAGAGCTGGGGTCCCATGTCCATCTGGACATTCTC[T/C]TGCCTCAGGGCCAAGTCTAATCTTTGCATGAGGGCTCTCC |
T |
T |
C___8713917_10 |
rs1029846 |
|
echinoderm
microtubule associated protein like 2 |
EML2 |
|
19 |
50841458 |
0.27 |
0.22 |
0.18 |
0.15 |
hCV8713917 |
TTTCAAGAATATTGGACCGCCTTCCTCAAGTCTCCAACGA[C/G]GGTAAACACCTAGAGTATAGGCAGGAGAAGTGAAGTCCGG |
C |
C |
C___2659005_10 |
|
|
gastric
inhibitory polypeptide receptor |
GIPR |
|
19 |
50859941 |
0.44 |
0.2 |
0.07 |
0.08 |
hCV2659005 |
GTGTGCGTGACATGTATATGACTGTATGTGACTTGTGAAT[G/A]TGGGTGAGACTAAGGGAGAGTTGTGAGTCTGTATGACCAT |
G |
G |
C___2659022_1_ |
|
|
gastric
inhibitory polypeptide receptor|small nuclear ribonucleoprotein D2
polypeptide 16.5kDa |
GIPR|SNRPD2 |
Mis-sense
Mutation |
19 |
50873232 |
0.16 |
0.12 |
0.16 |
0.26 |
hCV2659022 |
TCGCTCCACGCTGACGCTGGTGCCCCTGCTGGGTGTCCAC[C/G]AGGTGGTGTTTGCTCCCGTGACAGAGGAACAGGCCCGGGG |
C |
C |
C__25597348_10 |
|
|
gastric
inhibitory polypeptide receptor|hypothetical protein FLJ20084|small nuclear
ribonucleoprotein D2 polypeptide 16.5kDa |
GIPR|FLJ20084|SNRPD2 |
|
19 |
50883668 |
0.24 |
0.13 |
0.24 |
0.15 |
hCV25597348 |
TGGGGTCATCTCACTCTTGGGCTTGTTGAGGAGGCTCCTG[T/C]ATGGACAAACATGGAACCAATAAGTGAGAGAGGCTGGAGT |
T |
T |
C___2677027_10 |
|
|
hypothetical
protein FLJ20084|F-box only protein 34-like|hypothetical protein 20D7-FC4 |
FLJ20084|FBXO34L|20D7-FC4 |
UTR
3 |
19 |
50898265 |
0.12 |
0.01 |
0.06 |
0.16 |
hCV2677027 |
TGCCTAGGGTGTGCTGGTTTGTCCTTTTCATACCTTTGTC[C/T]CCTAATTGTGCTACAATTGGAAGACCTTCTTTCTTTTGAT |
C |
C |
C___2680512_10 |
rs2041975 |
|
|
|
|
19 |
50930395 |
0.39 |
0.38 |
0.44 |
0.26 |
hCV2680512 |
TTGGGATCTCTGGGTGCTCAAAGGAGCATCATAGGGAAGA[T/C]GAAGGGTGCCCATCAGGGTTCCTGCCCATCCTTCCTGCAA |
T |
T |
C___2680516_10 |
|
|
|
|
|
19 |
50938544 |
0.38 |
0.37 |
0.45 |
0.26 |
hCV2680516 |
GGCTAGACAGGAGTTTAAGCTCAGCCTACTCAATTTATCT[T/C]GAAGGATAGAACCCCAACACCCCCTTGGCTCAAAGTTATC |
C |
C |
C___1842094_10 |
|
|
dystrophia
myotonica-protein kinase|sine oculis homeobox homolog 5
(Drosophila)|hypothetical protein LOC147912|hypothetical protein LOC147912 |
DMPK|SIX5|LOC147912|LOC147912 |
Intron |
19 |
50966812 |
0.39 |
0.46 |
0.46 |
0.26 |
hCV1842094 |
AGGTAAGGACGGTGAGTCCGTCCGGGCCGGACGAGAGGGG[C/A]TGCCAAGGGTTGCCACCGGCCCGCATCCCGGCCCCGGCCC |
A |
A |
C___1842092_1_ |
rs16939 |
|
dystrophia
myotonica-protein kinase|sine oculis homeobox homolog 5
(Drosophila)|dystrophia myotonica-protein kinase|hypothetical protein
LOC147912|hypothetical protein LOC147912 |
DMPK|SIX5|DMPK|LOC147912|LOC147912 |
Intron |
19 |
50967896 |
0.39 |
0.39 |
0.46 |
0.26 |
hCV1842092 |
GAGAGGAGGAGGGAGTGGGGAGGGAGACAGAATGCTGATT[C/A]TCTGGTGGAGAACCAGAACTTCTGGCCTGTGGGTAGGGGC |
C |
C |
C___1842089_1_ |
rs1799894 |
IMS-JST005709 |
dystrophia
myotonica-protein kinase|sine oculis homeobox homolog 5
(Drosophila)|dystrophia myotonica-protein kinase|hypothetical protein
LOC147912|hypothetical protein LOC147912 |
DMPK|SIX5|DMPK|LOC147912|LOC147912 |
|
19 |
50973585 |
0.21 |
0.07 |
0.46 |
0.26 |
hCV1842089 |
CGGCCAGGGAACAAGCTTGCTATCCCCTCGGCCATGCTGC[A/G]CCCACCTGTGCACGTAGCCAAGCCGGTGCACCGAGTCTAT |
A |
A |
C___1842087_1_ |
rs2070737 |
IMS-JST005708 |
dystrophia
myotonica-protein kinase|sine oculis homeobox homolog 5
(Drosophila)|dystrophia myotonica-protein kinase|hypothetical protein
LOC147912|hypothetical protein LOC147912 |
DMPK|SIX5|DMPK|LOC147912|LOC147912 |
|
19 |
50974730 |
0.42 |
0.38 |
0.39 |
0.13 |
hCV1842087 |
ACCCGCTTCTGCACCCAGCCGTGGCCCCGCCCCACCTGCC[A/T]CACCACGCCCATTGGTCCCAAGCCCCGCCTCCAGCCCAGC |
T |
T |
C__11712219_1_ |
rs672348 |
|
dystrophia
myotonica-protein kinase|dystrophia myotonica-protein kinase |
DMPK|DMPK |
|
19 |
50976174 |
0.39 |
0.32 |
0.45 |
0.26 |
hCV11712219 |
AGGTTTTTCCAGAGGCTGAATGGCCTGGCCCTTCTTGGCC[G/T]CCACCTTCCCATCTGTGAAATGGGAGGAGGAGGGAAAGGA |
T |
T |
C___7830137_10 |
|
|
dystrophia
myotonica-protein kinase|radial spokehead-like 1|dystrophia myotonica-protein
kinase |
DMPK|RSHL1|DMPK |
|
19 |
50982662 |
0.43 |
0.37 |
0.39 |
0.13 |
hCV7830137 |
CCGATCTTTACTACGTCAGGCTTCAAGTAGGAAATTTCTT[T/C]ACGGAAAGGCAGCTCCCCAAAGGAAGCGATCTTTGTTTGG |
T |
T |
C__25597956_10 |
|
|
symplekin|symplekin |
SYMPK|SPK |
Intron |
19 |
51021278 |
0.1 |
0.08 |
0.05 |
0.1 |
hCV25597956 |
GGCTTCCCCACTCATCCCCTCTGCTCGCAGGGCCCAGAGC[A/G]CGGACACAGCAGCGCTCAGTATGCATCTGATGACCTGTGC |
G |
G |
C____270251_10 |
|
|
symplekin|symplekin |
SYMPK|SPK |
Intron |
19 |
51022387 |
0.09 |
0.08 |
0.07 |
0.12 |
hCV270251 |
TTCCCAGGAGGGCAAGCGCACGTGTGTGTGTGTACACACT[A/G]CAGGCAGACTCAGGCACGGTAACCCTGGTTTCTAGGCAGC |
A |
A |
C___2884324_10 |
|
|
symplekin|symplekin |
SYMPK|SPK |
Intron |
19 |
51030332 |
0.45 |
0.37 |
0.38 |
0.11 |
hCV2884324 |
ATGGCCTCGGGTAGGTACACCATGCTGATGAGGACCTGTG[A/G]GATGCCCAGGAAGAGAGCCTCTCCTTAATCATTAACTCAA |
A |
A |
C___2884402_1_ |
rs3745926 |
|
interferon
regulatory factor 2 binding protein 1|DKFZP434M154 protein |
IRF2BP1|DKFZP434M154 |
Silent
Mutation |
19 |
51079343 |
|
|
0.19 |
0.38 |
hCV2884402 |
GTCCGGGCACCGAGGGGCACTGGACGAAGTGGGTGTCTTC[C/T]AGCCGCTCCCTGCACAGGGTACAGCACAGGGGGGCCCCAG |
C |
C |
C___2884390_10 |
|
|
interferon
regulatory factor 2 binding protein 1|DKFZP434M154 protein |
IRF2BP1|DKFZP434M154 |
|
19 |
51086913 |
0.38 |
0.4 |
0.09 |
0.1 |
hCV2884390 |
CTTGGAAGAGAAGCTCCATGGCAGGCCAGTCTTTGTACCC[A/G]GAGGAGAAAAAGTCCTGCCAGCTTTAGTGGAAACAGGTCC |
A |
A |
C____337435_10 |
|
|
neuro-oncological
ventral antigen 2 |
NOVA2 |
Intron |
19 |
51161251 |
0.33 |
0.21 |
0.44 |
0.45 |
hCV337435 |
TTCCCTCCTTCTTGGAGGAGGAATGTCCTCTCACTGATAC[A/G]AGCCAGACCTTGTCTCCATTCTCTGCACTCAGCCTCTCTC |
A |
A |
C___2680720_10 |
|
|
|
|
|
19 |
51201419 |
0.4 |
0.33 |
0.3 |
0.35 |
hCV2680720 |
AGGGTCTCGTGGACCCCCCAGGGATCTGGAGACAGCACTC[A/G]GAGAGTCACAGGTCTAAGCTGTTCTCTCTGGTTGAGCATT |
G |
G |
C__11466564_10 |
rs1861790 |
|
peptidoglycan
recognition protein |
PGLYRP |
|
19 |
51222090 |
0 |
0.27 |
0.08 |
0.07 |
hCV11466564 |
CTACCCTGTTCCCTTGGGGACTTCAGACACACCAGGTATA[A/T]GTTTTAAATAGAGGAACCTGGAACGAATTCAGGAACTTTG |
T |
T |
C___2680776_10 |
|
|
|
|
|
19 |
51251864 |
|
|
0.34 |
0.5 |
hCV2680776 |
GCAAGTCCTCCCTTTGAGCTGGAATTCTTTTTACATCTAC[C/A]CAGCCACAGAAGACAGAAATGGAGCCCATTACGTCATTTC |
C |
A |
C___3276767_10 |
|
|
|
|
|
19 |
51356240 |
0.38 |
0.32 |
0.48 |
0.4 |
hCV3276767 |
AAAATCAACTTTCACTAAGGCATCTCAGAAACATAGGCTA[A/G]GGTAATATGTGTACCAGTAGAGAAGCCTGAGGAATTTACA |
G |
G |
C___3276772_10 |
|
|
|
|
|
19 |
51361003 |
0.42 |
0.48 |
0.49 |
0.38 |
hCV3276772 |
TTTAAGGGACTTACCATGTGGCTACTACAGTGGGAAACAC[C/T]GGATTGGATGGTAGCTGGCCGCCCCCTTTGGGGAGGCTGA |
C |
C |
C___2654124_10 |
rs1019213 |
|
|
|
|
19 |
51421092 |
0.23 |
0.36 |
0.48 |
0.35 |
hCV2654124 |
GATGCTCGAGAAGATTTCAGAGGATGGGTGACATTTAAGT[A/G]AAAGAAGAAGAATGAAGAAGGATGGGGTATTGGGTGCAGA |
G |
G |
C___2310002_10 |
rs757638 |
|
hypoxia
inducible factor 3, alpha subunit |
HIF3A |
Intron |
19 |
51503966 |
0.13 |
0.19 |
0.14 |
0.24 |
hCV2310002 |
CTGAAAGATCTTGAAGGGTGCTGGAGTCCAGGCATCTCCT[G/A]GGCTGGGGACCCTGCGGGGCTCACTCAGGTCAGGTCTAGC |
A |
A |
C___2677157_10 |
|
|
hypoxia
inducible factor 3, alpha subunit |
HIF3A |
Silent
Mutation |
19 |
51507339 |
0.07 |
0.22 |
0.13 |
0.23 |
hCV2677157 |
GCTGTTCCGCCTACGAGTACATCCACGCGCTGGACTCCGA[C/T]GCGGTCAGCAAGAGCATCCACACCTGTATGTATCCCATTT |
T |
T |
C___2677185_10 |
|
|
hypoxia
inducible factor 3, alpha subunit |
HIF3A |
Intron |
19 |
51516744 |
0.17 |
0.1 |
0.48 |
0.43 |
hCV2677185 |
CTGGCCCAGCAGGGGTCCTCCAGGCCCCTTCCTTACCCTC[A/T]CACTAAGAACAGTGGCCATCCTGACCTGCTGAAGATGTCA |
T |
A |
C___8713840_1_ |
rs917947 |
IMS-JST002564 |
protein
phosphatase 5, catalytic subunit |
PPP5C |
Intron |
19 |
51548803 |
0.1 |
0.04 |
0.38 |
0.34 |
hCV8713840 |
GGGAGACTGGGCGTCACCCAGCCCAGGGCCTGTCCTCGCA[A/G]GGTTGGAGCACTGCCTCATGCCTCTTCTTCTGTCTCCGCA |
A |
A |
C___2677201_1_ |
rs2239380 |
IMS-JST010511 |
protein
phosphatase 5, catalytic subunit |
PPP5C |
Intron |
19 |
51562142 |
0.16 |
0.02 |
0.39 |
0.35 |
hCV2677201 |
AATCTAGCACATGCCTCCTCTTAGATCACTTCCATTCAGA[T/C]AGGGTGTGGTTACATAGGTGCGGGACTAGTGGGCTATTTT |
C |
C |
C___2310011_1_ |
rs759290 |
IMS-JST058994 |
protein
phosphatase 5, catalytic subunit |
PPP5C |
Intron |
19 |
51583951 |
0.44 |
0.42 |
0.38 |
0.34 |
hCV2310011 |
AACATTTCAAAGACAGGCAAGAGCAGATAAAAGAACATGA[C/T]GAACACCCCCGTATGTGTCACCCACCCATGCAGCACCAGT |
C |
C |
C__25641838_10 |
|
|
hypothetical
protein FLJ10781|hypothetical protein FLJ10781 |
FLJ10781|FLJ10781 |
UTR
3 |
19 |
51663613 |
|
|
0.32 |
0.33 |
hCV25641838 |
TCTTATTCAGTGACAAGAGAGAACTTGGTTGACTTGGTAC[G/T]TCTTCCTTGTTCTTTCAACTCCTCAGTATGGGTGGTCCCC |
G |
G |
C___7829464_10 |
|
|
hypothetical
protein FLJ10781|hypothetical protein FLJ10781 |
FLJ10781|FLJ10781 |
Silent
Mutation |
19 |
51665821 |
0.22 |
0.33 |
0.23 |
0.09 |
hCV7829464 |
CCTCGGCATCCAGGAATTCATTCAGATTTTTTAAAAACTC[A/G]GCATCCTGGGTAGGGTCTCTACAGACCACTCTCCAGACAC |
A |
A |
C__11712928_1_ |
rs2288913 |
IMS-JST040304 |
hypothetical
protein FLJ10781 |
FLJ10781 |
|
19 |
51676049 |
0.39 |
0.28 |
0.4 |
0.44 |
hCV11712928 |
ATAGTTTGTTAATAAGCATACACGTGTATAGAAAAGGCAG[A/C]GTTTATCACAAAACAGGATGTTATTTATCCCTGGGGCAGG |
C |
C |
C___7829393_10 |
|
|
|
|
|
19 |
51684075 |
0.1 |
0.18 |
0.06 |
0.05 |
hCV7829393 |
GGCGGCCTTCTTTGGCATCACTGCCTCCACTCCACCAGCA[C/G]TTAGCCTGGCATGGGAGGGGCAGTAATTACACGCTAATAA |
G |
G |
C___7829380_10 |
|
|
|
|
|
19 |
51699360 |
0.19 |
0.49 |
0.28 |
0.22 |
hCV7829380 |
AACACAAAATCAATTTACCTCCCGTGTGTCTGGAGGGTGA[T/C]GAATGGCAGGTCTGCCTTTCAACACGTTTACATCCAAGGA |
T |
T |
C___7829378_10 |
|
|
|
|
|
19 |
51702345 |
0.13 |
0.3 |
0.29 |
0.27 |
hCV7829378 |
CACAGACTTTCTGTGGATTTTCATGTGATGATGAAAAACA[C/G]TGAGCTGGGTCCCAATGTATTTCCTGGCAACTGGCCATGT |
C |
C |
C__11712968_10 |
|
|
|
|
|
19 |
51712404 |
0.4 |
0.4 |
0.3 |
0.5 |
hCV11712968 |
AAAAACAATCTAGGTCCCTTTGGGGAGGCTGGAAAAAATG[T/C]CCAGGTAATAGTAAGTGAAGAAAAAAAAAACTGGTAGAAA |
C |
C |
C__11508779_10 |
|
|
|
|
|
19 |
51774877 |
0.44 |
0.43 |
0.06 |
0.15 |
hCV11508779 |
GCGGTTGTGGTCGGCTGTCATCTTCACTTCATCAGAGCGC[C/T]CACTGGTGGGTAATGAGAGAACAGCAGGGCTATCCCAGCT |
C |
C |
C___1446851_10 |
|
|
calmodulin
3 (phosphorylase kinase, delta) |
CALM3 |
UTR
3 |
19 |
51804488 |
|
|
0.38 |
0.41 |
hCV1446851 |
GCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCA[T/C]GTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCC |
C |
T |
C___1446858_10 |
|
|
calmodulin
3 (phosphorylase kinase, delta)|prostaglandin I2 (prostacyclin) receptor (IP) |
CALM3|PTGIR |
|
19 |
51810573 |
0.16 |
0.32 |
0.35 |
0.2 |
hCV1446858 |
CTATATTTTCACAGATCCTTGTACTGTGCCCTCTTAGTAC[G/A]GCTTGTGATTTTGTATCTGAGCTGCTTATTATAAAACATT |
A |
A |
C___1446865_10 |
rs1126510 |
|
calmodulin
3 (phosphorylase kinase, delta)|prostaglandin I2 (prostacyclin) receptor (IP) |
CALM3|PTGIR |
UTR
3 |
19 |
51815623 |
0.33 |
0.26 |
0.07 |
0.05 |
hCV1446865 |
CTTTTATTTATTCAGGACCCTGGGGACAGGCACAGGACTT[A/G]GGTTTGTGTTCTGGGGCAGTCCCTGGGATCCGCAGCCCCC |
G |
G |
C__11525322_10 |
|
|
guanine
nucleotide binding protein (G protein), gamma 8|prostaglandin I2
(prostacyclin) receptor (IP) |
GNG8|PTGIR |
|
19 |
51824517 |
0.12 |
0.06 |
0.34 |
0.19 |
hCV11525322 |
GGGCTCAGAGGGCACAGCCCAGGAAGAGTGTTCTCAAACA[A/G]GTTTGTCCACCCAGTGTGGGGATCCTGAGCAGGGGTGCCT |
A |
A |
C___1446914_1_ |
|
|
thymus
expressed gene 3-like |
MGC15476 |
|
19 |
51855614 |
0.14 |
0.09 |
0.32 |
0.35 |
hCV1446914 |
CAAGCCGCAAGAAGACAACGCCTGCAAAGTACCCGGTCTC[A/G]GGTTTGACACATACTTGGCGCCCACAAGGATTTTCTTTGG |
A |
A |
C____984153_10 |
|
|
protein
kinase D2 |
PRKD2 |
Intron |
19 |
51885690 |
|
|
0.44 |
0.35 |
hCV984153 |
GGCCCATGAAAGGAAGAAGCAGAAAGGGAAGGCGGCCTGG[C/T]GGTTACCTGCAGAATGGCCACTTCATTCCGGAGCTGGCTC |
C |
T |
C___3168164_10 |
|
|
protein
kinase D2|striatin, calmodulin binding protein 4 |
PRKD2|STRN4 |
Intron |
19 |
51907814 |
0.34 |
0.37 |
0.13 |
0.4 |
hCV3168164 |
AAGGTGTAAATCCAGACTTCTGTCATTCATTCATTGAGCC[A/G]GTTTCACTGGGCACTGCAGTATGCCGGAGCAGCAGGGAAG |
A |
A |
C__11527085_10 |
|
|
solute
carrier family 1 (neutral amino acid transporter), member 5 |
SLC1A5 |
Mis-sense
Mutation |
19 |
51974002 |
|
|
0.12 |
0.44 |
hCV11527085 |
CGATCTTGCCAGCCACCAGGAACATGATGCCCACAGGGGC[G/A]TACCTGATCAGTAACACAGGAGACAGCTTGTTGCCTCTTC |
A |
A |
C___3167921_10 |
rs313852 |
|
solute
carrier family 1 (neutral amino acid transporter), member 5 |
SLC1A5 |
Intron |
19 |
51979009 |
0.31 |
0.23 |
0.47 |
0.29 |
hCV3167921 |
GGAATGGGGTTGGGGGGTGAGGGAGAAAGGAAGAGCCTGG[A/G]CACCTGGGGTGGGAAAAGAGGGGACAAAGTAGAGACCTAT |
A |
G |
C___8713596_10 |
rs918486 |
|
solute
carrier family 1 (neutral amino acid transporter), member 5 |
SLC1A5 |
|
19 |
51987492 |
|
|
0.26 |
0.14 |
hCV8713596 |
GATAAGGGTAATGAGGCTTGCTGTGGCCCAAACCCCAGGC[A/G]TAAGCAAGAAATCTGAACTCAGATGTTTCTGATCCTTGTC |
G |
G |
C___1992049_10 |
|
|
|
|
|
19 |
51996254 |
0.17 |
0.08 |
0.41 |
0.34 |
hCV1992049 |
TGTCTGGGCGGCTCAGCCCTGTCTCCCCCAGCTGCAGGGT[A/G]GCAGGCCCCAGTGGCTCCTGGTGCAATTGTAACTCAGGGC |
G |
A |
C___3167967_1_ |
|
|
adaptor-related
protein complex 2, sigma 1 subunit |
AP2S1 |
Intron |
19 |
52034707 |
0.5 |
0.27 |
0.24 |
0.43 |
hCV3167967 |
GTTCCGGAACTGCAGAACAGAGAGGCTGTCAGCAACGGAG[A/C]TTGCCAGGACCTAACGTGCCAGACAGAGTGGGGCCAAAAC |
A |
A |
C___2826880_10 |
|
|
glucocorticoid
receptor DNA binding factor 1 |
GRLF1 |
Intron |
19 |
52138531 |
0.36 |
0.44 |
0.12 |
0.19 |
hCV2826880 |
ATGAATTGGGCTTACGGGCTCCATAGGGTTGTATTGAATA[G/A]TTGAACGAATTGTGAGCTAGTGTTTTCCCCAACTTTGACT |
G |
G |
C___1997534_10 |
|
|
glucocorticoid
receptor DNA binding factor 1 |
GRLF1 |
Intron |
19 |
52180731 |
0.33 |
0.24 |
0.31 |
0.28 |
hCV1997534 |
GGGAGATTAAATGGCATCATCGTTTATTTAATAAACAAGC[A/G]AATGGTGGATGGGGACAAAGCACCTAGCTCAGTGCACAGC |
G |
G |
C___1997535_10 |
|
|
glucocorticoid
receptor DNA binding factor 1 |
GRLF1 |
Intron |
19 |
52180918 |
|
|
0.18 |
0.09 |
hCV1997535 |
TCCATTAACCTCCTTTTCTCTCGGGGAAAGGGCCTTGGTG[C/G]AATTAACAGCTTTTAAGCCAGAGAATTGATGCCTCTTGCT |
G |
G |
C___3171086_10 |
|
|
|
|
|
19 |
52277357 |
0.33 |
0.13 |
0.31 |
0.2 |
hCV3171086 |
ATCCAGTGATGTAAAACTTGCACAGTTCTCGCTTCTTTGG[C/G]AGTTCGATGTCATGGCTAAAATTACAGTGGTCTCCCTAGA |
C |
C |
C___1997628_10 |
|
|
|
|
|
19 |
52302219 |
0.32 |
0.24 |
0.32 |
0.2 |
hCV1997628 |
ATTTGAGCATCCATAAAAAGACACTGAGCAAGCAAGAAAT[G/A]TCTTAAGATGGCTTCCACTTAGTGTCAACCCCAATTGGCT |
G |
G |
C__11524606_10 |
|
|
|
|
|
19 |
52302968 |
0.33 |
0.15 |
0.31 |
0.21 |
hCV11524606 |
AATGTCTTCAAAACTGCATCTGCATTAACTCCTAAAAGCA[G/A]AAGCGTTCTGCAGCAAAGACAAGGCCAAGAAACTGGGAGT |
G |
G |
C____987601_10 |
rs184290 |
|
SUMO-1
activating enzyme subunit 1 |
SAE1 |
|
19 |
52318905 |
0.24 |
0.22 |
0.22 |
0.29 |
hCV987601 |
TGGGGGTATAGGGGATGAAAGTTTCAGTAGCTTGCCCTGT[A/G]TTTAGGGAAAAAACAAAATTCTAACAAAACTCTTCTCCCG |
G |
G |
C___1988939_10 |
|
|
SUMO-1
activating enzyme subunit 1 |
SAE1 |
Intron |
19 |
52397123 |
0.29 |
0.37 |
0.24 |
0.25 |
hCV1988939 |
TGTTACCCCTGGATGAACAAAATGGGAATGTGCTGGTCCT[A/G]GCCAGGGCGTAAGGAGCCGGAGGTGCCTTTGGACACAGCT |
A |
A |
C___1988936_10 |
|
|
BCL2
binding component 3|SUMO-1activating enzyme subunit 1 |
BBC3|SAE1 |
|
19 |
52407489 |
0.2 |
0.09 |
0.37 |
0.45 |
hCV1988936 |
AGGTCCAAAAGGGTGGGTGGATTTGGTTCCTAAGCTTGTA[A/C]GATATTCAAGCAATATACAAGCATAAAGAGAAGATTCCTC |
A |
A |
C__22271520_10 |
rs2302985 |
|
coiled-coil
domain containing 9|DKFZP586M1019 protein |
CCDC9|DKFZP586M1019 |
Intron |
19 |
52453383 |
0.46 |
0.34 |
0.31 |
0.41 |
hCV22271520 |
GCTGTGAGGATCCCGCAGTATGTTAGAGGGTGAAGTAGGT[T/C]GGGGGGCCATTGGCCTTTGTCCTTTTTTTCCCTCTGTCCC |
T |
T |
C__11508870_10 |
|
|
complement
component 5 receptor 1 (C5a ligand) |
C5R1 |
Intron |
19 |
52505005 |
0.33 |
0.47 |
0.47 |
0.49 |
hCV11508870 |
ATCCTCGGGGAGCCCAGGAGACCAGAACATGGTGAGTCTC[G/A]AAGGGGAATGGGAGCAGGAAACTTTGTCCTGGGTCCCTCC |
A |
A |
C___3171075_10 |
rs2341876 |
|
G
protein-coupled receptor 77|DEAH (Asp-Glu-Ala-His) box polypeptide 34|DEAD/H
(Asp-Glu-Ala-Asp/His) box polypeptide 34 |
GPR77|DHX34|DDX34 |
Intron |
19 |
52544964 |
0.06 |
0.23 |
0.2 |
0.13 |
hCV3171075 |
AGACCGAGAGATACGGAAGGATGGAGACAGTTGAAATAGG[A/G]AGAACCCCACAAAAGCTGGAGATAATGGAGAACGATGCTG |
G |
G |
C___3171077_10 |
rs2341878 |
|
G
protein-coupled receptor 77|DEAH (Asp-Glu-Ala-His) box polypeptide 34|DEAD/H
(Asp-Glu-Ala-Asp/His) box polypeptide 34 |
GPR77|DHX34|DDX34 |
Intron |
19 |
52545059 |
0.06 |
0.21 |
0.2 |
0.13 |
hCV3171077 |
GAGGGAGTGGAGCCCGAACCCCTGGATTTGAGTGGCTCAT[C/G]TAACACTCGGCTACTCACTTAGCCTCTCTATTGCTCAGTA |
C |
C |
C__15962560_10 |
rs2245046 |
|
DEAH
(Asp-Glu-Ala-His) box polypeptide 34|DEAD/H (Asp-Glu-Ala-Asp/His) box
polypeptide 34 |
DHX34|DDX34 |
Silent
Mutation |
19 |
52550264 |
0.05 |
0.22 |
0.2 |
0.14 |
hCV15962560 |
AGCGGGAACCCAGCCTGCCCCAGTATGAGGTCCTGATTGT[A/G]GATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCC |
A |
A |
C___1997490_10 |
rs755327 |
|
DEAH
(Asp-Glu-Ala-His) box polypeptide 34|DEAD/H (Asp-Glu-Ala-Asp/His) box
polypeptide 34 |
DHX34|DDX34 |
Intron |
19 |
52569727 |
0.14 |
0.26 |
0.3 |
0.45 |
hCV1997490 |
GCTGAGGCCCAGAGGGGGCAGTCACCCAGCCGACACCTCC[G/T]GTACCATTTCTGGGGTCCCGGTGTTGGGGACCACAGATGC |
G |
G |
C___1997489_10 |
|
|
DEAH
(Asp-Glu-Ala-His) box polypeptide 34|DEAD/H (Asp-Glu-Ala-Asp/His) box
polypeptide 34 |
DHX34|DDX34 |
Intron |
19 |
52569773 |
0.06 |
0.2 |
0.2 |
0.14 |
hCV1997489 |
ATTTCTGGGGTCCCGGTGTTGGGGACCACAGATGCCCCGA[A/T]TGCTCTGAGCATGGGTCCCGAGTTCTCTCTGGCTGCTAGA |
A |
A |
C___1997477_10 |
rs2547378 |
|
DEAH
(Asp-Glu-Ala-His) box polypeptide 34|DEAD/H (Asp-Glu-Ala-Asp/His) box
polypeptide 34 |
DHX34|DDX34 |
UTR
3 |
19 |
52577594 |
0.08 |
0.25 |
0.2 |
0.14 |
hCV1997477 |
CCGCAGCCGCTCTCTCTTGAGTCCATCCTCAGTCTCTCCT[A/T]CCCCTTGAAGTAGGGGGACCCTGAATTTGCCCATCCACCT |
T |
T |
C____514896_1_ |
rs2272294 |
IMS-JST067451 |
|
|
|
19 |
52604135 |
0.17 |
0.22 |
0.14 |
0.12 |
hCV514896 |
GGTTTCGGTCTCTGTGGTCCACCCTTCTCCCTCTCTCCAT[G/T]CCCACCCTGCACCTGGGCAGCAGGGCTCTCACCGAGAGGT |
G |
G |
C___8714513_10 |
rs830161 |
|
|
|
|
19 |
52633649 |
0.13 |
0.07 |
0.11 |
0.1 |
hCV8714513 |
CCCACCTACATCCTGGTCCTGAGCTCGCTTCTCTCCCCAA[A/G]GTATGCTGACCCCTGACTCCAAGCCCAGCAGCAGCCCAAC |
G |
G |
C___2142005_10 |
rs830131 |
|
kaptin
(actin binding protein) |
KPTN |
|
19 |
52661560 |
0.25 |
0.42 |
0.31 |
0.32 |
hCV2142005 |
GGAAGCAAACCTCTTTCTGTCATACAAAGGTCAAAGCTCA[T/C]TGGGGAAGGAGGGTTGGGGGAGAAGCTGAGGACCAATGCA |
C |
C |
C__11527465_1_ |
rs2272295 |
IMS-JST067452 |
kaptin
(actin binding protein) |
KPTN |
Mis-sense
Mutation |
19 |
52670483 |
0.17 |
0.09 |
0.24 |
0.27 |
hCV11527465 |
CATGAGTCGCCCCAGGTCTGGGAAGAGTGGGTGCATGGGT[A/G]CTTAAGAGGCTGCATTCTCAGCAGGCCCTGCACCTGCCCC |
A |
A |
C___2932899_10 |
|
|
N-ethylmaleimide-sensitive
factor attachment protein, alpha|kaptin (actin binding protein) |
NAPA|KPTN |
Intron |
19 |
52678736 |
0.17 |
0.12 |
0.24 |
0.25 |
hCV2932899 |
GCTTCCAATCTCCCCAACATGGTGAGCTCTGGCTACCGCA[A/G]TGATCATGCCCTCTGGTCTGAGTCCTGACCACCATCACCT |
G |
G |
C___2932897_10 |
|
|
N-ethylmaleimide-sensitive
factor attachment protein, alpha|kaptin (actin binding protein) |
NAPA|KPTN |
|
19 |
52681800 |
0.24 |
0.39 |
0.32 |
0.3 |
hCV2932897 |
CTATCCTTCAGCCAGCACCCATGATGGGGGCAGACATGGT[A/C]ATCAATTTCAGGTCTCAGAAGTCTTTGCTGCCATTATCAG |
A |
A |
C___2932894_1_ |
rs2242495 |
|
N-ethylmaleimide-sensitive
factor attachment protein, alpha |
NAPA |
Intron |
19 |
52690928 |
|
|
0.1 |
0.04 |
hCV2932894 |
CTTGCTGGGCACATGCTTCTGGGGGAGCCCTTCTCTCCTC[A/G]GGCTGCCAGGATGCTACCAGCTTCCCACAACCCCAGGGAC |
G |
G |
C___2932889_10 |
|
|
N-ethylmaleimide-sensitive
factor attachment protein, alpha|zinc finger protein 541|hypothetical protein
DKFZp434I1930 |
NAPA|ZNF541|DKFZp434I1930 |
Intron |
19 |
52709769 |
0.17 |
0.13 |
0.24 |
0.26 |
hCV2932889 |
CCCGGCCCAGGCTCTTGGCCCTCAGCCTGCGTCCCCTCTG[C/T]CGCCTCAGGCCATGTCACCTTATTGCAGGTTCCTCTCCGT |
T |
T |
C___8714457_10 |
rs698707 |
|
N-ethylmaleimide-sensitive
factor attachment protein, alpha|zinc finger protein 541|hypothetical protein
DKFZp434I1930 |
NAPA|ZNF541|DKFZp434I1930 |
|
19 |
52710672 |
0.08 |
0.3 |
0.08 |
0.01 |
hCV8714457 |
ACCGTTCTGCTTTTTCTTGCTCCCTCTGTCGGCCAGTACT[A/G]GAACTGCTTTGGGGAGACCGGTGAAGAGAGACTGCAAACA |
A |
A |
C___2932876_10 |
|
|
zinc
finger protein 541|hypothetical protein DKFZp434I1930 |
ZNF541|DKFZp434I1930 |
Mis-sense
Mutation |
19 |
52734788 |
0.17 |
0.05 |
0.24 |
0.27 |
hCV2932876 |
AAGGAGGCAGGCCGACAAGCACCCACCATGGCCATGCTCC[C/T]TATGTGTCGGGTCACTGGAACCACGGGGATCGATTGGGGG |
T |
T |
C___2932874_10 |
rs2081893 |
|
zinc
finger protein 541|hypothetical protein DKFZp434I1930 |
ZNF541|DKFZp434I1930 |
Intron |
19 |
52739090 |
0.17 |
0.05 |
0.26 |
0.27 |
hCV2932874 |
ACCACAATCTTTCGGAACCTTAATTCCTTCCTCTGTAAAA[T/C]TGCATCTGGGGACTCTCTGAAATGAAATAAAATGCCTGGA |
C |
C |
C___2932862_10 |
rs2974190 |
|
|
|
|
19 |
52752878 |
0.08 |
0.44 |
0.08 |
0.01 |
hCV2932862 |
CTTATAGACTTTTACACACAAGGCCTAAGAATCTACCTTA[T/C]AGACCCTGGTCCAAAAAATGACTAAAAGTTTTGAATCAAT |
T |
T |
C__15845598_10 |
|
|
glioma
tumor suppressor candidate region gene 1 |
GLTSCR1 |
Intron |
19 |
52888310 |
|
|
0.3 |
0.44 |
hCV15845598 |
|
#N/A |
#N/A |
C___8714416_1_ |
|
|
glioma
tumor suppressor candidate region gene 1 |
GLTSCR1 |
UTR
3 |
19 |
52897904 |
0.32 |
0.26 |
0.42 |
0.43 |
hCV8714416 |
CTTCTCAGATGGTGGAGGGTGCTGGGAGCTGGCAGGGTCC[T/G]TCCAGACAGTCTCAGCCTCTCCCCGCCGCCCCCAACAGGC |
G |
G |
C___1996740_10 |
|
|
EH-domain
containing 2|glioma tumor suppressor candidate region gene 2 |
EHD2|GLTSCR2 |
Silent
MutationIntron |
19 |
52936006 |
0.36 |
0.23 |
0.44 |
0.49 |
hCV1996740 |
ACGACTTCACCAAGTTTCACTCGCTGAAGCCGAAGCTGCT[A/G]GAGGCACTGGACGAGATGCTGACGCACGACATCGCCAAGC |
A |
A |
C____306094_10 |
rs1974817 |
|
EH-domain
containing 2|glioma tumor suppressor candidate region gene 2 |
EHD2|GLTSCR2 |
Intron |
19 |
52938857 |
0.49 |
0.2 |
0.37 |
0.43 |
hCV306094 |
GCCCAGTTTCGCGGCTCGCGGCGCCCCCTGGCGGACGCTC[C/A]GAAAACAGATAGGCTGTGGTCGCCAAAATCCCTGCCCAGG |
A |
A |
C___1996743_1_ |
|
|
EH-domain
containing 2|glioma tumor suppressor candidate region gene 2 |
EHD2|GLTSCR2 |
Intron |
19 |
52942132 |
0.36 |
0.26 |
0.46 |
0.48 |
hCV1996743 |
AGGAAAAAGGTGAGGAGAGGCTTTTGTGGTGTGGAATGGC[C/G]GTTATTCATTGTTAGTCAGCTTACGGTAGCCTCTGAGATC |
G |
G |
C___1996792_10 |
|
|
selenoprotein
W, 1 |
SEPW1 |
|
19 |
52965213 |
0.36 |
0.37 |
0.44 |
0.47 |
hCV1996792 |
ACCTCACTGAGAAGGTGGCATTTGAGGAAGTCACCTGCAC[T/C]GCAGAATGCTCCCAGACACCTGCAGATACCGTATACCTTT |
T |
T |
C___1996824_10 |
rs3786777 |
|
selenoprotein
W, 1 |
SEPW1 |
Intron |
19 |
52977975 |
0.48 |
0.11 |
0.5 |
0.35 |
hCV1996824 |
GTGGAACAAGTGGCAATTTCTATATGAACCTCAGGAACAA[A/C]GAACTACTTTCCAGCACCTTCTGAGTCTGATTTTCCAGTT |
A |
C |
C___3170645_10 |
|
|
cone-rod
homeobox |
CRX |
Intron |
19 |
53037219 |
0.27 |
0.27 |
0.22 |
0.12 |
hCV3170645 |
TGAAGAGAGGCCGGGAGGTATCAGATGACGTTTCCAGCAC[C/T]AGACCAGAAGAGGTGCACACAGCCTAGACCCCCTGAGGGG |
C |
C |
C___8716099_10 |
rs182420 |
|
sulfotransferase
family, cytosolic, 2A, dehydroepiandrosterone (DHEA) -preferring, member 1 |
SULT2A1 |
|
19 |
53064007 |
0.28 |
0.09 |
0.09 |
0.1 |
hCV8716099 |
AATAACTTAAGGATATTGTGGGTTTTTATTGTTGCTACTT[T/C]GAGATGCAGTTGTATCTCTAGAGACACAGTGGGGTCAGAT |
C |
C |
C___3170678_10 |
rs2547241 |
|
sulfotransferase
family, cytosolic, 2A, dehydroepiandrosterone (DHEA) -preferring, member 1 |
SULT2A1 |
Intron |
19 |
53073177 |
0.4 |
0.44 |
0.29 |
0.43 |
hCV3170678 |
TCTCAACGCTTGGTTATCAGCAGCACCATAGGTCTCACCC[A/G]GAGAAATGTTTACATACACCAGTGCTAGCAGGAGACATCA |
A |
A |
C___3170685_10 |
|
|
sulfotransferase
family, cytosolic, 2A, dehydroepiandrosterone (DHEA) -preferring, member 1 |
SULT2A1 |
Intron |
19 |
53076771 |
0.08 |
0.21 |
0.2 |
0.35 |
hCV3170685 |
GATCCTAGAGTCATGCAATCAGTTCTGAGACAGATAGAAA[C/T]AGAATATTAAGAGGGTTTTGGAAAGAGGCATCAGAAAAAA |
#N/A |
#N/A |
C___2932709_10 |
|
|
epididymal
sperm binding protein 1 |
ELSPBP1 |
|
19 |
53191121 |
0.27 |
0.23 |
0.31 |
0.23 |
hCV2932709 |
ACCAAGAGGAACCAGATATGATAGCTGTCTTCAAACAGCT[G/A]TAGATAAGACATTGGCACCAATATCTACCACCCAACATGG |
C |
C |
C____317568_10 |
|
|
epididymal
sperm binding protein 1 |
ELSPBP1 |
|
19 |
53204446 |
0.23 |
0.22 |
0.03 |
0.1 |
hCV317568 |
TAATTAGGTTGTCCAGGTTGGGGTCTGAAGGTTCTGTTCA[T/C]TGGAATTATATAGCCTGCCTTTTACCCCCACCATGTGCTG |
A |
A |
C___2932828_10 |
rs2115100 |
|
calcium
binding protein 3|epididymal sperm binding protein 1|calcium binding protein
5 |
CABP3|ELSPBP1|CABP5 |
|
19 |
53214706 |
0.5 |
0.2 |
0.2 |
0.2 |
hCV2932828 |
|
#N/A |
#N/A |
C__11527164_1_ |
rs2303690 |
IMS-JST060448 |
calcium
binding protein 3|epididymal sperm binding protein 1|calcium binding protein
5 |
CABP3|ELSPBP1|CABP5 |
|
19 |
53217319 |
0.42 |
0.35 |
0.11 |
0.1 |
hCV11527164 |
GTTCAACTATAAAAACAAGAATTATTTTAACTGCACTAAC[A/G]AAGGATCAAAGGAGAACCTTGTGTGGTGTGCAACTTCTTA |
G |
G |
C___3299231_10 |
|
|
calcium
binding protein 3|epididymal sperm binding protein 1|calcium binding protein
5 |
CABP3|ELSPBP1|CABP5 |
Intron |
19 |
53226972 |
0.45 |
0.2 |
0.03 |
0.15 |
hCV3299231 |
ATCCTGGCTAGATCTAGCAGGTGTCCAACCAGCCTCTACT[A/G]TGTTTCCATACTGGGACATACAGCATATATGGTTTAGAGA |
A |
A |
C__25636649_10 |
rs3745748 |
|
calcium
binding protein 3|epididymal sperm binding protein 1|calcium binding protein
5 |
CABP3|ELSPBP1|CABP5 |
Intron |
19 |
53229137 |
0.43 |
0.18 |
0.03 |
0.15 |
hCV25636649 |
CTCTTTGAAATGAATAGCCTGGGAAGAAAGGGACAGAACA[A/G]ATGCTTCCAAAACCTGCCACCCGCTTCCATTCTCAAACTT |
G |
G |
C___8832482_1_ |
|
|
calcium
binding protein 3|phospholipase A2, group IVC (cytosolic,
calcium-independent)|calcium binding protein 5 |
CABP3|PLA2G4C|CABP5 |
UTR
3 |
19 |
53243221 |
0.06 |
0.04 |
0.03 |
0.16 |
hCV8832482 |
GACCTGCAGGACAAATTTCACCACCTTCAGCTCCTTGGAC[A/G]CCTTCTTCTGAATGACGCTATCAAAATCACAGTCTAGCTG |
A |
A |
C___2939102_1_ |
|
|
calcium
binding protein 3|phospholipase A2, group IVC (cytosolic,
calcium-independent)|calcium binding protein 5 |
CABP3|PLA2G4C|CABP5 |
UTR
3 |
19 |
53243358 |
|
|
0.1 |
0.1 |
hCV2939102 |
TGTGGCTGAAGGGAGTGAAGAACAGGAAGGCCAGGTGGAC[A/T]TCAGGGCCCTAGTAGACCAACAGGCCCACAGTGCCCTGGA |
A |
A |
C___2939084_10 |
rs891014 |
|
calcium
binding protein 3|phospholipase A2, group IVC (cytosolic,
calcium-independent)|calcium binding protein 5 |
CABP3|PLA2G4C|CABP5 |
Intron |
19 |
53249000 |
0.37 |
0.5 |
0.1 |
0.1 |
hCV2939084 |
GCTAGGCCTTCCAAGCAGCTGCTCACCTGAGACTGGATGA[A/G]GAATGTGGGATGCCCAGGTGGAAGGGGTTGGATATTCAGG |
G |
G |
C___2939064_10 |
rs1366442 |
|
phospholipase
A2, group IVC (cytosolic, calcium-independent) |
PLA2G4C |
Intron |
19 |
53261521 |
0.38 |
0.47 |
0.23 |
0.22 |
hCV2939064 |
TTCCGAGGCCATAAGACCCGGCAGCTGCATGGCATGGTGC[G/T]CAGACACAGCTGAAGTCCTGTGTGCCTTGTAGGAAGCACC |
T |
T |
C___2939040_10 |
rs1019786 |
|
phospholipase
A2, group IVC (cytosolic, calcium-independent) |
PLA2G4C |
Intron |
19 |
53272954 |
0.17 |
0.1 |
0.1 |
0.03 |
hCV2939040 |
GGGGAATGTTTAACTGTAAAGTCACTAGTTATAGAAAATA[T/C]AGATTACCTGCAGCGACGTCTCTTTAATAGAAATGGCAGC |
T |
T |
C___2938992_10 |
rs380359 |
|
ligase
I, DNA, ATP-dependent|phospholipase A2, group IVC (cytosolic,
calcium-independent) |
LIG1|PLA2G4C |
Intron |
19 |
53301527 |
0.05 |
0.46 |
0.31 |
0.33 |
hCV2938992 |
CAAGCGAGAGGAACTGTCACAGCCCTCACCTCTTGACACT[C/T]ACTATGCATTCCATTACACAAATGCTCTGCTTCCCCATAG |
T |
T |
C___2426552_1_ |
|
|
ligase
I, DNA, ATP-dependent|phospholipase A2, group IVC (cytosolic,
calcium-independent) |
LIG1|PLA2G4C |
Mis-sense
Mutation |
19 |
53314239 |
0.49 |
0.19 |
0.06 |
0.13 |
hCV2426552 |
GGCTCACCTTGAGGCTCTGGTGATGCTCCTCCAGCTCCTC[A/G]TCACTGAAGCCAGTTCCAAGCTGCAGGGAGGAAGCGGGAG |
A |
A |
C___2426539_1_ |
|
|
ligase
I, DNA, ATP-dependent |
LIG1 |
Intron |
19 |
53322575 |
0.44 |
0.5 |
0.23 |
0.19 |
hCV2426539 |
CTGTGAGGGCGGCCATGCTGCTGGCTCCAGGTGCTGGATC[C/G]TTAACGGCTCTCAGCTAATTCCGACAACCTCATTCCCCTT |
G |
G |
C___2938969_1_ |
rs156641 |
|
ligase
I, DNA, ATP-dependent |
LIG1 |
Intron |
19 |
53323220 |
|
|
0.31 |
0.31 |
hCV2938969 |
TGCAGCTCTCAAGATGCACTAACAAAGAGGCAGGTGCACA[C/T]AGATGCTTTTCTTTTATTCCCCACCAAGAGGAGACAGAAA |
C |
C |
C___2938963_1_ |
rs2241721 |
|
ligase
I, DNA, ATP-dependent |
LIG1 |
Intron |
19 |
53325976 |
|
|
0.38 |
0.41 |
hCV2938963 |
CGGTGCTGGGGTGCCCACCTCTAGATGTGAGAAAAAATCA[T/C]ATGGGCTTACACCACGCAGGACTGAGTGCTCTGTCATTTG |
T |
C |
C___2078061_1_ |
rs2288881 |
IMS-JST040260 |
ligase
I, DNA, ATP-dependent |
LIG1 |
Intron |
19 |
53331724 |
0.05 |
0.25 |
0.23 |
0.22 |
hCV2078061 |
AGGTAAGGCACGGGGCACAGGGCAGGGCTCCCAAGAAATG[T/C]TCCATGATGTGAGCCCTCAATGGATTTGCTCTCACTGTCA |
T |
T |
C___2078083_10 |
|
|
ligase
I, DNA, ATP-dependent |
LIG1 |
Intron |
19 |
53340650 |
|
|
0.44 |
0.41 |
hCV2078083 |
GATTCTGATGCTCACACAGGGCATGGATGGCCAAGACAGA[C/T]AGTGCCACTGCAGGGCTGTGCATGGCCTTTGGTATGAACT |
T |
T |
C___1028649_10 |
|
|
ligase
I, DNA, ATP-dependent |
LIG1 |
Intron |
19 |
53360726 |
|
|
0.22 |
0.22 |
hCV1028649 |
|
#N/A |
#N/A |
C___2078139_10 |
rs274867 |
|
ligase
I, DNA, ATP-dependent |
LIG1 |
|
19 |
53368067 |
|
|
0.25 |
0.18 |
hCV2078139 |
CAGGTTTTGTACACGTGACAAAGACTGGGAGACAGAGACT[G/A]GGAGACTGAACTGCAGAGAAGCCGCAGGATAAAGAAAAGG |
G |
G |
C___2078160_10 |
rs754381 |
|
|
|
|
19 |
53378615 |
0.38 |
0.14 |
0.46 |
0.34 |
hCV2078160 |
CCCTGCAGTTCTGGCGGGAAAAACCAACAACTGACAAACA[T/C]GTCCAAATATGATGTAACATCACTAGGGGCTGGCTGGGTG |
T |
T |
C___2078201_10 |
rs370240 |
|
|
|
|
19 |
53385913 |
|
|
0.46 |
0.48 |
hCV2078201 |
CATGGCTCCCAGAGGGAATATTTTCTATGCCGTATAGCCT[G/C]TTTTCACATGAAGCCATTTTGGGGTGTTATAGTAACAGCT |
G |
C |
C___2078205_10 |
|
|
|
|
|
19 |
53388747 |
|
|
0.19 |
0.1 |
hCV2078205 |
GAGAGATGGGGTGTCTGCTTAGTTGGGAAGTCACAGAAGA[C/G]CGGGACGTGATGTTTGAACAGAGACGATAATTATAATGGC |
G |
G |
C___2951296_10 |
rs1968416 |
|
caspase
recruitment domain family, member 8|tumor up-regulated CARD-containing
antagonist of caspase nine |
CARD8|TUCAN |
|
19 |
53396933 |
0.1 |
0.26 |
0.17 |
0.28 |
hCV2951296 |
GAAAGGAGGCAGGAGGGATCCTGGGAAGGCAAACAACAGC[A/T]ATTGAGCGCAAACCAAATCCAAAACTTCTCCACTTGCCTG |
T |
T |
C___3218842_10 |
|
|
caspase
recruitment domain family, member 8|tumor up-regulated CARD-containing
antagonist of caspase nine |
CARD8|TUCAN |
Intron |
19 |
53411500 |
0.11 |
0.24 |
0.19 |
0.27 |
hCV3218842 |
AAACAAAACTCTGACAATCTGAGATGCTAAGACATTTTAC[C/A]GACTGGAGGGAGGAGGCGGGGAGGGTGCATGTGGAGGTGC |
C |
C |
C__11708080_1_ |
rs2043211 |
IMS-JST040255 |
caspase
recruitment domain family, member 8|tumor up-regulated CARD-containing
antagonist of caspase nine |
CARD8|TUCAN |
Nonsense
Mutation |
19 |
53429518 |
0.34 |
0.22 |
0.37 |
0.34 |
hCV11708080 |
ATGTCCCCCCCAGATAGTTGACACTCAGGAACAGCACGGA[A/T]CAATAATGGCTCTGCCTCTGTCTCATCATCTTCTTGGAAA |
A |
T |
C___8164548_10 |
|
|
caspase
recruitment domain family, member 8|tumor up-regulated CARD-containing
antagonist of caspase nine |
CARD8|TUCAN |
Intron |
19 |
53435281 |
0.35 |
0.29 |
0.37 |
0.35 |
hCV8164548 |
ATGTAAAACAGTGCATTCATTTTCTACAAATGAGACATAA[G/A]CCTGGTGCTGATGAGGAGCCACTGAAACACACAGAGGGAG |
A |
G |
C___2882354_10 |
|
|
hypothetical
protein MGC17986|caspase recruitment domain family, member 8|tumor
up-regulated CARD-containing antagonist of caspase nine |
MGC17986|CARD8|TUCAN |
|
19 |
53456507 |
|
|
0.44 |
0.45 |
hCV2882354 |
TCTACTGACAGAATTACGTGCAATGTCACAGCAAGAGCCT[A/G]ATGTATCTGCCCAGAATTCTTGTTTTGATCTGTAAATCTC |
G |
A |
C___2404278_10 |
rs448784 |
|
hypothetical
protein MGC17986|caspase recruitment domain family, member 8|tumor
up-regulated CARD-containing antagonist of caspase nine |
MGC17986|CARD8|TUCAN |
|
19 |
53456533 |
0.26 |
0.14 |
0.09 |
0.09 |
hCV2404278 |
CACAGCAAGAGCCTGATGTATCTGCCCAGAATTCTTGTTT[T/C]GATCTGTAAATCTCTAATAGTAATTGTGAAGAGCTCAACT |
C |
C |
C__16081143_10 |
rs2161098 |
|
hypothetical
protein MGC17986 |
MGC17986 |
Intron |
19 |
53467084 |
|
|
0.22 |
0.23 |
hCV16081143 |
CGCGCCCTTCACCTTGGCCCAGGGAGAAGGGCGCTTCCCC[C/G]ATACCGTGCTGCAGCGTTGCGAAAGCGCCTGTCCCCGGGC |
G |
G |
C___2882320_10 |
rs1504520 |
|
hypothetical
protein MGC17986 |
MGC17986 |
Intron |
19 |
53475055 |
|
|
0.41 |
0.37 |
hCV2882320 |
TGCACCTCTGCTTGGAGAGAGATGCTGCCCTGGGGATTCT[T/C]CTGGGACCACCCCCACCCCAGTACTGACTGGTCCTTTCCA |
C |
T |
C__11708181_10 |
|
|
hypothetical
protein FLJ32926|KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein
retention receptor 1 |
FLJ32926|KDELR1 |
Intron |
19 |
53493030 |
0.24 |
0.22 |
0.1 |
0.08 |
hCV11708181 |
AAAACTCTCTATCCTGTGTGTTCCCTCTGCCCCCATGGAA[A/G]CCCCGTCCCCTCTGCGTCCCTCCTGCCCTGCGCCTCACAG |
A |
A |
C___2882283_10 |
|
|
hypothetical
protein FLJ32926|KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein
retention receptor 1 |
FLJ32926|KDELR1 |
Intron |
19 |
53493238 |
0.41 |
0.43 |
0.1 |
0.08 |
hCV2882283 |
GCCACCCCCGAGACCGGCCTCCTGTCCCGGCTCCCTGCCG[C/T]CTCCCACCTGGGCATGTAGGAAGGCCTGCACTGTCAGGAG |
C |
C |
C___3060209_10 |
|
|
epithelial
membrane protein 3|hypothetical protein FLJ10922|hypothetical protein
FLJ32926|KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention
receptor 1 |
EMP3|FLJ10922|FLJ32926|KDELR1 |
|
19 |
53516915 |
0.42 |
0.44 |
0.41 |
0.24 |
hCV3060209 |
AAATTAAGGATTCATAGGAAGGAAGGCGGTGTCGAAGCCG[C/G]GAGTTGCGCGGAGAAGGAGCGCTCAACACAGCCTCAGCGG |
C |
C |
C___3060214_10 |
|
|
epithelial
membrane protein 3|hypothetical protein FLJ10922|hypothetical protein
FLJ32926|KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention
receptor 1 |
EMP3|FLJ10922|FLJ32926|KDELR1 |
Intron |
19 |
53524366 |
|
|
0.41 |
0.24 |
hCV3060214 |
GGATGGGGCAGAGAAGGGTCACATGGTGAGCAAGCAGGTG[A/G]AGCTGGAACTCTGGACCCACGGTGATGTCCCCCTCTGTGT |
G |
G |
C___8829719_1_ |
|
|
epithelial
membrane protein 3|hypothetical protein FLJ10922|KDEL (Lys-Asp-Glu-Leu)
endoplasmic reticulum protein retention receptor 1|hypothetical protein
FLJ32926 |
EMP3|FLJ10922|KDELR1|FLJ32926 |
UTR
3 |
19 |
53528020 |
0.41 |
0.26 |
0.41 |
0.24 |
hCV8829719 |
GGCAGACACCCTCAGCTCCTCAGCCAAACCACACTTGGAT[G/A]TTTATGGTGAGGGTGGGACTAAGAAATGGAACAGAAGCAG |
A |
A |
C___8829718_1_ |
|
|
epithelial
membrane protein 3|hypothetical protein FLJ10922|KDEL (Lys-Asp-Glu-Leu)
endoplasmic reticulum protein retention receptor 1|hypothetical protein
FLJ32926 |
EMP3|FLJ10922|KDELR1|FLJ32926 |
UTR
3 |
19 |
53528048 |
0.42 |
0.28 |
0.41 |
0.23 |
hCV8829718 |
CCACACTTGGATGTTTATGGTGAGGGTGGGACTAAGAAAT[G/A]GAACAGAAGCAGAGCTAAATCGCTTTGATTGGCTGTTCAT |
A |
A |
C___3060218_10 |
rs3826828 |
|
epithelial
membrane protein 3|hypothetical protein FLJ10922|KDEL (Lys-Asp-Glu-Leu)
endoplasmic reticulum protein retention receptor 1|hypothetical protein
FLJ32926 |
EMP3|FLJ10922|KDELR1|FLJ32926 |
Mis-sense
Mutation |
19 |
53528485 |
0.4 |
0.26 |
0.4 |
0.24 |
hCV3060218 |
CAGCCTGACTTGGCTAGGAGCCAGTTCTCCACCTCCGACC[G/T]GAGCCACCTGGAGGTCTCTGCAAGGGGAGAGGCAGGTGTT |
T |
T |
C___1502338_10 |
rs409050 |
|
hypothetical
protein FLJ10922|synaptogyrin 4|KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum
protein retention receptor 1|hypothetical protein FLJ32926 |
FLJ10922|SYNGR4|KDELR1|FLJ32926 |
Intron |
19 |
53556221 |
0.34 |
0.31 |
0.16 |
0.14 |
hCV1502338 |
GTGGGAGAAACTGAGGCTCTGGAAAAGTCATTTGGTAAGG[G/A]CTGCAGTGTCTGTGGGAAATGACTGCTATCTAGGCCTGTC |
G |
G |
C___1502328_10 |
|
|
KDEL
(Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor
1|synaptogyrin 4|hypothetical protein FLJ32926 |
KDELR1|SYNGR4|FLJ32926 |
|
19 |
53571995 |
0.18 |
0.14 |
0.31 |
0.18 |
hCV1502328 |
CACTTTCTTCAGGCCTGTTACACACTAAGTCCTGTCAAGT[C/T]ACTACTCCTTGAGTCCCCACACTGGCCAGGGGAGGGAGGC |
T |
T |
C___8832804_10 |
|
|
KDEL
(Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor
1|glutamate receptor, ionotropic, N-methyl D-aspartate 2D|hypothetical
protein FLJ32926 |
KDELR1|GRIN2D|FLJ32926 |
|
19 |
53587769 |
0.27 |
0.45 |
0.46 |
0.23 |
hCV8832804 |
GATGAAGGAAACAGGAGCCTCACCCAGGAGGCTCAAGGCC[A/G]AAACTCTGACCCAAACTACCTCAGGAGCCCCTGGCCCTGG |
A |
A |
C___8165077_10 |
rs1654670 |
|
glutamate
receptor, ionotropic, N-methyl D-aspartate 2D |
GRIN2D |
Intron |
19 |
53605990 |
0.26 |
0.24 |
0.23 |
0.41 |
hCV8165077 |
AGAGTCTAGTCCAGTGACTGGGTGGATGACATGAGAGACA[G/C]TCAGAGTACCCAGGGTGATGTTGCATAGTGAAGATATTGA |
C |
C |
C___3199479_1_ |
rs1654671 |
IMS-JST038607 |
glutamate
receptor, ionotropic, N-methyl D-aspartate 2D |
GRIN2D |
Intron |
19 |
53616775 |
0.48 |
0.31 |
0.49 |
0.38 |
hCV3199479 |
ATATTGAACACTCCTGGGACTGGGGTGTCTGCCAGATAGC[A/G]GGTGTGTCTCAGAATGGGTGATTTATGTTAGGGATGTCCC |
G |
G |
C___8832827_10 |
rs892200 |
|
glutamate
receptor, ionotropic, N-methyl D-aspartate 2D |
GRIN2D |
Intron |
19 |
53618377 |
|
|
0.49 |
0.38 |
hCV8832827 |
ACAACAAGGCTGAGCACAGTAACTCTCTCCCCGTCCTGCA[C/T]TTACTCAGTCCTTCCGTGTGCATTTTTCTTATCCTCTGCT |
C |
T |
C___2036446_10 |
rs1643489 |
|
glutamate
receptor, ionotropic, N-methyl D-aspartate 2D|glutamate-rich WD repeat
containing 1|glutamate rich WD repeat protein GRWD |
GRIN2D|GRWD1|GRWD |
|
19 |
53640108 |
|
|
0.25 |
0.2 |
hCV2036446 |
TCCCACAGGGGAAGAGGAGACAGAATTAGAGAGAGAACAG[A/G]GACTCTGAAAGGAGGTGCCTGGGGAGACAAAGACCAAGAA |
G |
G |
C___2036445_1_ |
rs1799281 |
IMS-JST038606 |
glutamate
receptor, ionotropic, N-methyl D-aspartate 2D|glutamate-rich WD repeat
containing 1|glutamate rich WD repeat protein GRWD |
GRIN2D|GRWD1|GRWD |
|
19 |
53640582 |
0.3 |
0.42 |
0.31 |
0.43 |
hCV2036445 |
ATGTCTGGTTAGGCAATTGACTGCCCCTAGAGGGTAGATT[G/A]AACCGCCTAACTTACAGATAATATCCATCCTGTCTACAAG |
A |
A |
C___2036412_10 |
|
|
pleckstrin
homology, Sec7 and coiled-coil domains 2 (cytohesin-2)|potassium
inwardly-rectifying channel, subfamily J, member 14 |
PSCD2|KCNJ14 |
|
19 |
53670511 |
0.02 |
0.35 |
0.07 |
0.01 |
hCV2036412 |
TGGCTGATCCAGGTGCCATCCTTCCCGAAACACCACCCAC[A/T]GGCAGAAAAGAGCCAAACAGGCCAGGAAACCTGTCCCAGA |
T |
T |
C___3199457_10 |
|
|
sulfotransferase
family, cytosolic, 2B, member 1 |
SULT2B1 |
Intron |
19 |
53753536 |
0.24 |
0.5 |
0.43 |
0.49 |
hCV3199457 |
TTTGGACCTGGGGCGCCTCGGGCAGCCAAGGAGAGCTGCG[A/G]TGGCCGCTCCTCCCCGCGCTCTGATCTCGGGAGTCCCTGG |
G |
A |
C___3199409_10 |
rs2302949 |
|
hypothetical
protein FLJ20200|sulfotransferase family, cytosolic, 2B, member 1 |
FLJ20200|SULT2B1 |
Intron |
19 |
53787683 |
0.07 |
0.07 |
0.17 |
0.29 |
hCV3199409 |
GAAATGTGGGGGCTCTGGGGGAGGGCATCCAGCTCTGGGG[G/A]CTGGACCTGGGGGTTTGTGGGGCACAGCTAGTTAGACCCA |
#N/A |
#N/A |
C___3098463_10 |
rs447802 |
|
hypothetical
protein FLJ20200|ribosomal protein L18|sperm acrosome associated
4|sphingosine kinase 2|D site of albumin promoter (albumin D-box) binding
protein |
FLJ20200|RPL18|SPACA4|SPHK2|DBP |
Mis-sense
Mutation |
19 |
53808171 |
0.31 |
0.39 |
0.19 |
0.25 |
hCV3098463 |
TGCCCAGGCCAGTAGCTCAGGCTGCCCGCGTCCACATCGG[C/T]GGTGGTGGCTCCCTCTGCCATCCCGCTGGGCTCCTGCTTG |
T |
T |
C___3098458_1_ |
rs430989 |
|
hypothetical
protein FLJ20200|ribosomal protein L18|sperm acrosome associated
4|sphingosine kinase 2|D site of albumin promoter (albumin D-box) binding
protein |
FLJ20200|RPL18|SPACA4|SPHK2|DBP |
Intron |
19 |
53812586 |
|
|
0.2 |
0.24 |
hCV3098458 |
TTCCAGTGAAGGGGCAAACACATGATGATCTGGACTAAAA[G/T]AATCTTTATCCCTTTCCCCCAACCCACCGACCTAGAGGGA |
T |
T |
C___8833086_10 |
|
|
D
site of albumin promoter (albumin D-box) binding protein|carbonic anhydrase
XI|sphingosine kinase 2|ribosomal protein L18 |
DBP|CA11|SPHK2|RPL18 |
Intron |
19 |
53833344 |
|
|
0.4 |
0.43 |
hCV8833086 |
CCTACCGTCGGAAGTCTGCGAGCGGGGAACCAGAATGTAC[T/C]AGGTCGAGAAGCACTGGGCTGAACCACAAGAAGCCAATAG |
T |
T |
C___2405272_10 |
rs281391 |
|
hypothetical
protein BC018697|D site of albumin promoter (albumin D-box) binding
protein|ribosomal protein L18 |
LOC126147|DBP|RPL18 |
UTR
3 |
19 |
53856552 |
0.22 |
0.45 |
0.29 |
0.41 |
hCV2405272 |
TCACTGGCGGGGAATAAGCCACAGGCCAAAGGAGGAAATG[T/C]TGGGACCAGAAGTCCCGCTTGCCGCCTTTTGCTAAAAGTT |
T |
T |
C___2885856_10 |
|
|
hypothetical
protein FLJ36070|Ras-interacting protein|hypothetical protein FLJ20401 |
FLJ36070|RAIN|FLJ20401 |
Intron |
19 |
53909117 |
0.47 |
0.26 |
0.14 |
0.15 |
hCV2885856 |
GGAAGAGGTGGCCTGTGAGATGCTGCGCTGGGCTTGACCT[A/G]GAGCAGCCAAGAGGGCGAGCGCCCATAAGCCATGCCCACA |
A |
A |
C___2885875_10 |
rs281407 |
|
Ras-interacting
protein|hypothetical protein FLJ20401 |
RAIN|FLJ20401 |
Intron |
19 |
53925147 |
0.41 |
0.16 |
0.36 |
0.36 |
hCV2885875 |
TCCAAGGAGATCTGGATCTCAAAGGACTCTCTAAGCACCC[A/G]CAACGCCACTGAGTGGACTCTTCCCAGGCACTTTGTATGG |
G |
G |
C___8832425_1_ |
|
|
fibroblast
growth factor 21|fucosyltransferase 1 (galactoside
2-alpha-L-fucosyltransferase)|hypothetical protein MGC34799|Ras-interacting
protein|hypothetical protein FLJ20401 |
FGF21|FUT1|MGC34799|RAIN|FLJ20401 |
UTR
3 |
19 |
53943567 |
0.07 |
0.46 |
0.13 |
0.1 |
hCV8832425 |
AGCAGCCCACCTGCAGACAAAGACCAACTTCCTTCATTGT[G/A]AGAGGCAACCTGAACTCACACCCAATATATGGAGCTCTTG |
A |
A |
C___2886457_10 |
rs838137 |
|
fibroblast
growth factor 21|fucosyltransferase 1 (galactoside
2-alpha-L-fucosyltransferase)|hypothetical protein MGC34799 |
FGF21|FUT1|MGC34799 |
Intron |
19 |
53946385 |
0.43 |
0.17 |
0.41 |
0.21 |
hCV2886457 |
CCACATGGCTGCAGGGGAGGAAAGGCGAATTAGCAAATGC[A/T]CTGAGGCTGAGGAGGGGAGGCTGAGGAGGGATGTGGGGTA |
T |
T |
C___3170795_10 |
|
|
branched
chain aminotransferase 2, mitochondrial |
BCAT2 |
Intron |
19 |
53991639 |
0.08 |
0 |
0.02 |
0.06 |
hCV3170795 |
AGCCCCTCCCCTCCTTCCCTCCCACCCACAATGGCAGCCC[C/T]GCCTCACCCTGTCTTTGTACAGGATTCGGTGCACTGGGCA |
T |
T |
C____987261_1_ |
rs526744 |
IMS-JST065645 |
branched
chain aminotransferase 2, mitochondrial |
BCAT2 |
Intron |
19 |
53992417 |
0.3 |
0.19 |
0.47 |
0.43 |
hCV987261 |
GCACTAACACGGTGGGCCCATAATTCCTGGTGGAGGGCAG[T/C]CTGGTTGGGTGGGGCAAGGGAGCCCCATCCTTCCCCAGCC |
C |
T |
C___3170779_10 |
rs837642 |
|
branched
chain aminotransferase 2, mitochondrial|dehydrogenase/reductase (SDR family)
member 10|retinal short-chain dehydrogenase/reductase 3 |
BCAT2|DHRS10|retSDR3 |
Intron |
19 |
53999811 |
0.34 |
0.24 |
0.48 |
0.48 |
hCV3170779 |
TCTGTCTGCCAGGGCCACAGGCTTCCTCTGCTCTCACTCA[A/G]CTGAAGAAAAAGTACTGGGTCCCCAGCCAGAGGACAACTG |
A |
G |
C___3170774_10 |
rs521398 |
|
branched
chain aminotransferase 2, mitochondrial|dehydrogenase/reductase (SDR family)
member 10|retinal short-chain dehydrogenase/reductase 3 |
BCAT2|DHRS10|retSDR3 |
Intron |
19 |
54002429 |
0.33 |
0.4 |
0.49 |
0.47 |
hCV3170774 |
AAGCGCCTCCCACCCCAGAGACCTTTGGTCGCAGCCTGGA[A/G]ATCAGCTCAGACAAGAAAACAACCAGGGAAGGCACACAGG |
A |
G |
C___3170832_1_ |
rs3745705 |
|
pleckstrin
homology domain containing, family A (phosphoinositide binding specific)
member 4|dehydrogenase/reductase (SDR family) member 10|retinal short-chain
dehydrogenase/reductase 3 |
PLEKHA4|DHRS10|retSDR3 |
Intron |
19 |
54034081 |
0.07 |
0.23 |
0.07 |
0.09 |
hCV3170832 |
CCTTGATGCAGAAGTAGGATCTGCTATTGACCAAGGGAAT[C/T]TGAGGAACTAAAGATATCACTACGGATCTAGGGCTTTCTG |
C |
C |
C___3170980_10 |
|
|
pleckstrin
homology domain containing, family A (phosphoinositide binding specific)
member 4 |
PLEKHA4 |
Intron |
19 |
54050131 |
0.08 |
0.31 |
0.08 |
0.09 |
hCV3170980 |
GCTTCCTTCTAAGCATTAGCAAATTTCAGTAGACCAACTT[C/G]CACATTCTTGGCTTCAGAAAGATCAATAATGGGCTCTTGA |
G |
G |
C____987378_1_ |
rs518822 |
IMS-JST044630 |
pleckstrin
homology domain containing, family A (phosphoinositide binding specific)
member 4 |
PLEKHA4 |
Intron |
19 |
54056437 |
0.15 |
0.35 |
0.08 |
0.11 |
hCV987378 |
CCTCGACAGATATCTACCCGCCCTCATCTCCAGTTCCCAT[C/T]GCCTGGTGCACAACATGGATGGATGGACTCACGGTGAAGG |
T |
T |
C___3170826_10 |
rs506425 |
|
pleckstrin
homology domain containing, family A (phosphoinositide binding specific)
member 4|protein phosphatase 1, regulatory (inhibitor) subunit 15A |
PLEKHA4|PPP1R15A |
Mis-sense
Mutation |
19 |
54060655 |
0.34 |
0.22 |
0.1 |
0.14 |
hCV3170826 |
TCCCTCCTGAGCGCATTGCCTCTCTTCCCAAAGGCGTGGA[T/C]CTTGTTTACTGCCCGGGTGGGCTTCTGAGGAGAGAAGGGG |
C |
C |
C____987376_1_ |
|
|
pleckstrin
homology domain containing, family A (phosphoinositide binding specific)
member 4|protein phosphatase 1, regulatory (inhibitor) subunit 15A |
PLEKHA4|PPP1R15A |
Intron |
19 |
54062985 |
0.2 |
0.5 |
0.08 |
0.1 |
hCV987376 |
CTGCCCACTGCACTCAGGCCAGGAATTTGACCCTCTCTGT[A/G]CTTAGGGACTCCCCATTCCCTGCCTCCTTCCGGCTGCCCC |
A |
A |
C___3170972_10 |
rs638050 |
|
pleckstrin
homology domain containing, family A (phosphoinositide binding specific)
member 4|protein phosphatase 1, regulatory (inhibitor) subunit 15A|tubby like
protein 2 |
PLEKHA4|PPP1R15A|TULP2 |
|
19 |
54067488 |
0.42 |
0.38 |
0.11 |
0.14 |
hCV3170972 |
GGCGCGGTAGGCTATAAAAGCCTAGTGGCCATTGTGTTCG[C/T]TGCTCTTATCGGTTCCCATCCCAGTTGTTGATCTTATGCA |
C |
C |
C____987373_1_ |
rs626140 |
IMS-JST065642 |
pleckstrin
homology domain containing, family A (phosphoinositide binding specific)
member 4|protein phosphatase 1, regulatory (inhibitor) subunit 15A|tubby like
protein 2 |
PLEKHA4|PPP1R15A|TULP2 |
Intron |
19 |
54067898 |
0.19 |
0.5 |
0.07 |
0.09 |
hCV987373 |
GGAATCATCTGCCAAGTAGGGGGTCGGGTCAGAATGTTTC[A/G]GTCTGCGAGGGAGGAGGGTGTGAGGGTTTGATTTGTCAAT |
G |
G |
C___2950046_1_ |
rs500079 |
|
pleckstrin
homology domain containing, family A (phosphoinositide binding specific)
member 4|protein phosphatase 1, regulatory (inhibitor) subunit 15A|tubby like
protein 2 |
PLEKHA4|PPP1R15A|TULP2 |
Mis-sense
Mutation |
19 |
54070806 |
|
|
0.16 |
0.26 |
hCV2950046 |
GCAGCTTGCTCGGGATCGCAGCCGCTTCGCACGCCGCATC[A/G]CCCAGGCCCAGGAGGAGCTGAGCCCCTGCCTCACCCCTGC |
G |
G |
C__22274915_10 |
rs3826818 |
|
protein
phosphatase 1, regulatory (inhibitor) subunit 15A|tubby like protein 2 |
PPP1R15A|TULP2 |
Intron |
19 |
54080466 |
0.13 |
0.3 |
0.04 |
0.17 |
hCV22274915 |
GGTATGCTCTGTGGCCTGCTGGGAAATGGAGTCCCCCTGT[A/C]CCTAAGCTCCCTGCTACCTGCTCCTCACCACATGTCAGAG |
A |
A |
C___3170956_10 |
|
|
nucleobindin
1|tubby like protein 2 |
NUCB1|TULP2 |
Mis-sense
Mutation |
19 |
54092446 |
0.14 |
0.3 |
0.08 |
0.08 |
hCV3170956 |
CACAATACCTGCTGTTCCAGCTTCTGCAGCCTCATAGCAG[T/C]GAGCTCATGCCCCAGGATGCTGAGAGAGACACAGGCCCAT |
T |
T |
C__15959075_10 |
rs2270943 |
|
nucleobindin
1|tubby like protein 2 |
NUCB1|TULP2 |
Intron |
19 |
54093449 |
|
|
0.03 |
0.15 |
hCV15959075 |
AGTAGCCTGTTTCCAGCTTCCCACGGGGGTCCGCAAGTCC[G/A]CTTCTCTCTCCCCCAAATATCTAATTCTCCAGCACCCAGG |
#N/A |
#N/A |
C___3170917_10 |
rs2387579 |
|
nucleobindin
1 |
NUCB1 |
Intron |
19 |
54108268 |
0.43 |
0.4 |
0.32 |
0.25 |
hCV3170917 |
AGCGCCGGCACCGCGAGCACCCTAAAGTCAACGTGCCTGT[A/G]AGGACCCCATTTGTGCCCATCCACTCCCTACCACATCCAG |
G |
G |
C___1455273_1_ |
rs2287833 |
IMS-JST038855 |
nucleobindin
1 |
NUCB1 |
Intron |
19 |
54113540 |
0.41 |
0.24 |
0.47 |
0.38 |
hCV1455273 |
GTCCAGAGCACTGAATGCCAGGGCCAGAGAATCCTGCATG[A/T]CAGTGACCCAAGCATGTTTCCTCGAACCCTCCCTTTGATC |
T |
T |
C___8831583_1_ |
|
|
nucleobindin
1 |
NUCB1 |
UTR
3 |
19 |
54117650 |
0.35 |
0.14 |
0.43 |
0.38 |
hCV8831583 |
GGGGCACGGCCTGGCATTTCACGCATTGCTGCCACCCCAG[A/G]TCCACCTGTCTCCACTTTCACAGCCTCCAAGTCTGTGGCT |
A |
A |
C___3170904_10 |
|
|
dihydrodiol
dehydrogenase (dimeric) |
DHDH |
Intron |
19 |
54135470 |
0.16 |
0.15 |
0.4 |
0.4 |
hCV3170904 |
AAAAAAAGCTGCCCCACTTTGCAGAAGAGGCCCTTGCCTT[A/G]GCTTCCACTCAGCTGGAAAGTATCCAAGAGTGCCTGAGCC |
G |
A |
C__15959006_10 |
rs2270938 |
|
BCL2-associated
X protein|ferritin, light polypeptide|glycogen synthase 1 (muscle) |
BAX|FTL|GYS1 |
Intron |
19 |
54165839 |
0.27 |
0.43 |
0.28 |
0.38 |
hCV15959006 |
GTTCAGAAAACATCCTGGGGAGATCTTCATGGTCTCCAGG[A/T]CTCTGTGGCACCAGGACCCCTCCTCTCCCAGCGGCCCGAG |
T |
T |
C___2884550_10 |
|
|
chorionic
gonadotropin, beta polypeptide 7|neurotrophin 5 (neurotrophin 4/5)|potassium
voltage-gated channel, shaker-related subfamily, member 7 |
CGB7|NTF5|KCNA7 |
|
19 |
54255936 |
0.12 |
0.14 |
0.1 |
0.19 |
hCV2884550 |
TAAGTCAACCTTTGCCCCCTCTTACCAAGTAAGATTTCCC[A/G]TTTGAACCCCATCTCCCAGATACTTAAAGGCCTTCTGTGG |
G |
G |
C___2884522_10 |
|
|
small
nuclear ribonucleoprotein 70kDa polypeptide (RNP antigen) |
SNRP70 |
Intron |
19 |
54282750 |
0.42 |
0.23 |
0.03 |
0.06 |
hCV2884522 |
TCTTAGGTGCATCAGAGCACACCTGAGAAAAGCTGGCACA[C/T]AGTCGGAAGTTACAAGAAGAACGTTCTAGCATTGGGTAGG |
T |
T |
C___2884499_1_ |
|
|
hypothetical
protein FLJ10490|lin-7 homolog B (C. elegans)|protein tyrosine phosphatase,
receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 |
FLJ10490|LIN7B|PPFIA3 |
Mis-sense
Mutation |
19 |
54313776 |
|
|
0.44 |
0.49 |
hCV2884499 |
AGTCTGGGTCTGAGTGCTGGGGCAGAACTGAGGACAACGC[C/T]GCCTACCCTTAAGAGCGTCTGAGGGCGAAGGCCAAGTCCC |
T |
T |
C__25635494_10 |
rs4802565 |
|
hypothetical
protein FLJ10490|lin-7 homolog B (C. elegans)|protein tyrosine phosphatase,
receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 |
FLJ10490|LIN7B|PPFIA3 |
Intron |
19 |
54323891 |
0.5 |
0.16 |
0.18 |
0.27 |
hCV25635494 |
CCTTTTTCTCACATCTGCCCCTTTTCCCTTGCCTCTTTTC[A/C]TTGACCCCATGCCGTGTGCTTGCAGCTGCTCCTGGAACAC |
A |
A |
C___2884484_10 |
rs745124 |
|
protein
tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting
protein (liprin), alpha 3 |
PPFIA3 |
Intron |
19 |
54330768 |
0.45 |
0.21 |
0.16 |
0.26 |
hCV2884484 |
CAGGCCTGGCCCCTTGACCTTGACTTCAGGACCCCTGGCC[C/G]TAGGTCTGTCTCTGTGACCCTTACCTCTGTGCTCTTTTCC |
G |
G |
C___2884471_10 |
rs3764625 |
|
histidine
rich calcium binding protein|protein tyrosine phosphatase, receptor type, f
polypeptide (PTPRF), interacting protein (liprin), alpha 3 |
HRC|PPFIA3 |
Intron |
19 |
54340863 |
0.43 |
0.18 |
0.16 |
0.21 |
hCV2884471 |
CCAAAGTCACATTGCCTGGTACATGGCAGGTGCCCTATAA[G/T]AAGAATCATTCCTTTTCTCTGTTACTGCTTGCCCCAGAAA |
G |
G |
C__11506744_1_ |
rs3745297 |
|
histidine
rich calcium binding protein|protein tyrosine phosphatase, receptor type, f
polypeptide (PTPRF), interacting protein (liprin), alpha 3|transient receptor
potential cation channel, subfamily M, member 4 |
HRC|PPFIA3|TRPM4 |
Mis-sense
Mutation |
19 |
54350021 |
0.33 |
0.36 |
0.2 |
0.23 |
hCV11506744 |
TGGGACCTGTGGCCTGGGAGTAGGTGCCCATATTCCTTGG[A/C]GACATCTTCATCCTCCTTTTCACGGTCTGGGTGGCTCCAG |
C |
C |
C___2885905_1_ |
rs3745298 |
|
histidine
rich calcium binding protein|protein tyrosine phosphatase, receptor type, f
polypeptide (PTPRF), interacting protein (liprin), alpha 3|transient receptor
potential cation channel, subfamily M, member 4 |
HRC|PPFIA3|TRPM4 |
Mis-sense
Mutation |
19 |
54350179 |
|
|
0.21 |
0.28 |
hCV2885905 |
CTCTGCTGATGCCTCCTCGGAGAGCCCGGCGACTCCAGTG[C/T]TGTTGTTCCGGTTTCTGAAGCCCAGCCCATCCCCTCTGAG |
T |
T |
C___8832029_10 |
|
|
transient
receptor potential cation channel, subfamily M, member 4 |
TRPM4 |
Intron |
19 |
54384185 |
|
|
0.22 |
0.19 |
hCV8832029 |
CCAGGATGGGGTACAGGTGAGTATCTGCGACACCAACATC[C/G]CAAACAGTCTCCAAGTGGACTCTGGGAAGTATGGGGATGA |
G |
G |
C___2942336_10 |
|
|
TEA
domain family member 2|soggy-1 gene |
TEAD2|DKKL1-pending |
|
19 |
54558197 |
|
|
0.19 |
0.23 |
hCV2942336 |
TACAGGCGCTAGTGGACTGGAGACGGCTGGCGGCTGTCCC[G/A]GGACGGGGAAGAGAGCTTTGGTGCCTGAGGGAAGATGGCT |
A |
A |
C__25473605_10 |
rs2303758 |
|
TEA
domain family member 2|soggy-1 gene |
TEAD2|DKKL1-pending |
Intron |
19 |
54560771 |
0.22 |
0.36 |
0.18 |
0.24 |
hCV25473605 |
|
#N/A |
#N/A |
C__25473550_10 |
|
|
TEA
domain family member 2|soggy-1 gene |
TEAD2|DKKL1-pending |
Intron |
19 |
54561352 |
|
|
0.44 |
0.43 |
hCV25473550 |
TTTCTGTAGTTTAGGAGGACAAGAAGAGGAACTGACCCTC[C/T]TACTCCTCTGTGTGGAACTTCCTCCTTCTGAGCCTCAGTT |
T |
T |
C___2830482_10 |
|
|
hypothetical
protein FLJ32658 |
FLJ32658 |
|
19 |
54588129 |
|
|
0.47 |
0.42 |
hCV2830482 |
TAGGTTCAAGACAGAGGGGGTGCAAATTTCACTCACTGCA[A/G]AGAATCCTGGAAGAGTTAGAGGGATGAGAAAGTTGACTCA |
G |
G |
C___2830449_10 |
|
|
hypothetical
protein FLJ32658 |
FLJ32658 |
Intron |
19 |
54599502 |
0.35 |
0.5 |
0.33 |
0.33 |
hCV2830449 |
TTCAGGTCCCATTTCATGGCTGGCATGGGCTGCCCTCTCC[A/G]GCCTATTGTTTTCCCAGCTAACTGCCCTCAGCCTTGAAGA |
A |
A |
C___2830439_10 |
|
|
hypothetical
protein FLJ32658|tuberoinfundibular 39 residue protein precursor |
FLJ32658|TIP39 |
Intron |
19 |
54607723 |
0.19 |
0.05 |
0.1 |
0.1 |
hCV2830439 |
AGGGAAATGCTGATCTCCTCTGGGACCCAGATAAGTGTAC[A/G]AGATCTGTGGAACATCCAGGAAGTTTAGGCAACCGGGACT |
A |
A |
C___1733699_1_ |
rs3745309 |
|
hypothetical
protein MGC10204|solute carrier family 17 (sodium-dependent inorganic
phosphate cotransporter), member 7|tuberoinfundibular 39 residue protein
precursor |
MGC10204|SLC17A7|TIP39 |
Intron |
19 |
54627348 |
0.34 |
0.18 |
0.39 |
0.21 |
hCV1733699 |
GTCCCTCCAGGCCCAACTCGGTCTTCTCTCTGCTCCACCC[A/G]GGAAGTCTCGCCCACCCTGCCCTTCCGCGCGGTGGCCCCT |
A |
A |
C___1733701_10 |
rs1343703 |
|
hypothetical
protein FLJ20643|hypothetical protein MGC10204 |
FLJ20643|MGC10204 |
|
19 |
54646967 |
0.43 |
0.19 |
0.44 |
0.35 |
hCV1733701 |
TGCCACACTTCCGAGTACCCCAGTGTTCATTCACAAGCTG[C/G]TATCGCGTTATCGACAAGCCACGCCCCTCGCATCAATCAA |
C |
C |
C___1733702_1_ |
rs2293009 |
|
fms-related
tyrosine kinase 3 ligand|hypothetical protein MGC10204 |
FLT3LG|MGC10204 |
Silent
Mutation |
19 |
54659492 |
0.44 |
0.13 |
0.37 |
0.27 |
hCV1733702 |
TTTCCTCTGTTGGACACCTTCATCTTCCCCACAGGCTCCA[A/G]GTGGGCACTGTCTGGATCAACGCCCACGGCCTCAGAGACC |
A |
A |
C____137273_1_ |
rs1055637 |
|
fms-related
tyrosine kinase 3 ligand|hypothetical protein MGC10204 |
FLT3LG|MGC10204 |
UTR
3 |
19 |
54665596 |
0.44 |
0.42 |
0.33 |
0.22 |
hCV137273 |
GCATTTTGGACACCTCACACCAAGGGGAGATGCACCCCAC[A/G]GACACCTGGGACTTTCCCCTTCTGGTTCCTGTGTCTCCCA |
G |
G |
C__25473564_10 |
rs3826717 |
|
fms-related
tyrosine kinase 3 ligand|hypothetical protein MGC10204 |
FLT3LG|MGC10204 |
Intron |
19 |
54671705 |
|
|
0.07 |
0.06 |
hCV25473564 |
GGGAGGGAGATGCCTTCCTACGAATTAGAAGTAAAGCTCC[G/A]CTAGGCCTTATTGGCGATTTGGACCATAGCCACCCAACGA |
G |
G |
C___8831765_10 |
rs1042122 |
|
fms-related
tyrosine kinase 3 ligand|ribosomal protein L13a |
FLT3LG|RPL13A |
UTR
3 |
19 |
54681236 |
0.26 |
0.17 |
0.17 |
0.11 |
hCV8831765 |
CCCAGAATGGAGGCAACGCCAGAATCCAGCACCGGCCCCA[C/T]TTACCCAACTCTGTACAAAGCCCTTGTCCCCATGAAATTG |
C |
C |
C__15862169_10 |
rs2073614 |
|
ribosomal
protein L13a|ribosomal protein S11 |
RPL13A|RPS11 |
Intron |
19 |
54693311 |
0.18 |
0.49 |
0.07 |
0.09 |
hCV15862169 |
|
#N/A |
#N/A |
C___8831711_10 |
rs1132990 |
|
Fc
fragment of IgG, receptor, transporter, alpha |
FCGRT |
Intron |
19 |
54719975 |
0.29 |
0.43 |
0.12 |
0.04 |
hCV8831711 |
CACTGCTGCCACCTCCTTGAATCTGACTGCCTTGAACCTC[A/G]CGCCTGTCAGTGCCCCCAAAACCTGATGGCTTGTCCTTCC |
G |
G |
C____436883_10 |
|
|
nitric
oxide synthase interacting protein |
NOSIP |
Intron |
19 |
54756265 |
0 |
0.38 |
0.1 |
0.16 |
hCV436883 |
TTAGCTAAGGCTTGACACTTAGCTAAGGCTTGACCCAATC[A/G]CTGCCTGCCAGTCCACTAGCGACTGGATCTAGCAGCTGTG |
A |
A |
C___7840152_1_ |
rs2288921 |
IMS-JST040315 |
nitric
oxide synthase interacting protein|proline-rich Gla (G-carboxyglutamic acid)
polypeptide 2 |
NOSIP|PRRG2 |
Intron |
19 |
54783814 |
0.33 |
0.34 |
0.13 |
0.2 |
hCV7840152 |
GTGCTAAGGATTGGGGGCAGGCAGGCACTGATGAAAGACC[T/G]AAGGACACAGTCATTTGGAGAGTGAGTCTGTGAGCTGGCT |
G |
G |
C___7798909_10 |
|
|
proline-rich
Gla (G-carboxyglutamic acid) polypeptide 2 |
PRRG2 |
|
19 |
54787956 |
0.33 |
0.42 |
0.12 |
0.2 |
hCV7798909 |
CCCAACTTGTTCTGCACCACCCCATGAAGTTCAGGGCCTA[C/T]GTGTTCCCGTGTGTCTACGGAAGAGGAGGCGTCCATGTGG |
C |
C |
C___7798907_10 |
|
|
proline-rich
Gla (G-carboxyglutamic acid) polypeptide 2 |
PRRG2 |
|
19 |
54790235 |
0.28 |
0.5 |
0.12 |
0.21 |
hCV7798907 |
AGCTCTATAACTTCTCGGGTGCTGCCCCGGGCCCACCGCC[A/G]CCTGAGCGGGCCCTGCCACGCCAGGACACGGTCATCAAGC |
A |
A |
C___7799149_10 |
|
|
|
|
|
19 |
54813890 |
0.38 |
0.33 |
0.12 |
0.2 |
hCV7799149 |
CAGCTCAGCCTCGTCCTCTGCTTCCAGCCCTGCCCCACCT[C/T]CATTCGTTCCTACCTGGTCCATCAGCCTGGACTTCAGCCT |
C |
C |
C___8703733_10 |
rs1368464 |
|
related
RAS viral (r-ras) oncogene homolog|serine arginine-rich pre-mRNA splicing
factor SR-A1 |
RRAS|SR-A1 |
Intron |
19 |
54831880 |
|
|
0.19 |
0.13 |
hCV8703733 |
CCCAGGTCCTCCCCACACCCACCCACTGCTCCGCCACCAG[C/T]AACCCCTGTCACCTCTGCCGGTCGTTAATGGCGAACACCA |
C |
C |
C___7798263_10 |
|
|
related
RAS viral (r-ras) oncogene homolog|serine arginine-rich pre-mRNA splicing
factor SR-A1 |
RRAS|SR-A1 |
|
19 |
54839864 |
0.32 |
0.23 |
0.22 |
0.24 |
hCV7798263 |
GAGGCCAGGGAGGCCTCCCTTTGACATAAGAGGCACCTGA[G/A]ACCCAGAAAAAAGGAAGAGAATTGCTCCTAGTCCCTGGGG |
A |
A |
C__15973932_10 |
rs2304204 |
|
BCL2-like
12 (proline rich)|interferon regulatory factor 3|serine arginine-rich
pre-mRNA splicing factor SR-A1 |
BCL2L12|IRF3|SR-A1 |
UTR
5 |
19 |
54860832 |
|
|
0.18 |
0.26 |
hCV15973932 |
|
#N/A |
#N/A |
C___8703934_10 |
rs881785 |
|
BCL2-like
12 (proline rich)|HMT1 hnRNP methyltransferase-like 2 (S.
cerevisiae)|interferon regulatory factor 3 |
BCL2L12|HRMT1L2|IRF3 |
Intron |
19 |
54865103 |
0.16 |
0.41 |
0.16 |
0.24 |
hCV8703934 |
CAAGGGCCTGGCATGGCTTAGGGACTCACGTTCCAGGCCA[C/G]TATCCCGGGGGTAGTTTGGCAGAGACCCTGGAGTCTGGCT |
G |
G |
C___8703933_10 |
rs975484 |
|
BCL2-like
12 (proline rich)|HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae) |
BCL2L12|HRMT1L2 |
|
19 |
54872078 |
0.25 |
0.39 |
0.13 |
0.22 |
hCV8703933 |
GGCATTCCTGGTGGATTTTGCCCAATCACCAGTCGCGCTT[C/G]TTGCAATAGACGGGCAGTTTTCCCCATCCCGGGTCGACTT |
G |
G |
C___8717639_10 |
rs1654603 |
|
adaptor-related
protein complex 2, alpha 1 subunit|testis-specific kinase substrate|carnitine
palmitoyltransferase 1C|hypothetical protein TCBAP0758|prostate tumor
overexpressed gene 1 |
AP2A1|TSKS|CPT1C|TCBAP0758|PTOV1 |
Intron |
19 |
54953817 |
0.13 |
0.49 |
0.16 |
0.15 |
hCV8717639 |
CATCCCCCACTCAGCCCAAGGGAGTCTTGGGGAGAGAAAG[C/G]CCTTTTGCATTAGTGACAAAAGCAGCAGCCTTCTTGTCTT |
G |
G |
C___1671348_10 |
|
|
adaptor-related
protein complex 2, alpha 1 subunit|testis-specific kinase substrate|carnitine
palmitoyltransferase 1C|hypothetical protein TCBAP0758|prostate tumor
overexpressed gene 1 |
AP2A1|TSKS|CPT1C|TCBAP0758|PTOV1 |
Intron |
19 |
54963736 |
0.23 |
0.32 |
0.23 |
0.15 |
hCV1671348 |
CTCAGGGAACAGGAGGGTGGAAACAGTTGAGTATCAGTTG[G/T]AGGAGAAATGATCACTTGTTATGATAAGGGGCGGGGCTAT |
T |
T |
C___3064155_10 |
|
|
adaptor-related
protein complex 2, alpha 1 subunit|hypothetical protein FLJ22688|carnitine
palmitoyltransferase 1C|hypothetical protein TCBAP0758|prostate tumor
overexpressed gene 1 |
AP2A1|FLJ22688|CPT1C|TCBAP0758|PTOV1 |
Intron |
19 |
54996251 |
0.5 |
0.4 |
0.28 |
0.19 |
hCV3064155 |
AGGCAGTGATGGGCTCCCATCCTCTCGGCCTCCACCCCAA[C/T]CCACCTAGCAGGGTAAGAAAGGAGCTTAGTCCCAGGATCG |
C |
C |
C__11706578_1_ |
rs2305918 |
IMS-JST063367 |
adaptor-related
protein complex 2, alpha 1 subunit|hypothetical protein FLJ22688|hypothetical
protein TCBAP0758|carnitine palmitoyltransferase 1C|prostate tumor
overexpressed gene 1 |
AP2A1|FLJ22688|TCBAP0758|CPT1C|PTOV1 |
Intron |
19 |
55007585 |
0.47 |
0.38 |
0.27 |
0.17 |
hCV11706578 |
CAAAGAGGGTAACTGGCTTGCTAAAGATCCCATAGCCAAA[T/A]TAACAGCTGCTTTTAGAGAGCTGGAAGGCCTCCGGGGTCA |
A |
A |
C___3064185_10 |
|
|
hypothetical
protein TCBAP0758|prostate tumor overexpressed gene 1|carnitine
palmitoyltransferase 1C |
TCBAP0758|PTOV1|CPT1C |
|
19 |
55044712 |
0.38 |
0.24 |
0.26 |
0.16 |
hCV3064185 |
TCACATGGGTGATTGACAGGGCATTGGAGGTACCTGTTGA[A/T]AACTAACTTGCAGTTTGTGTTCAGGGAGCACTGACTCCGT |
A |
A |
C___1671350_1_ |
rs2257103 |
IMS-JST063372 |
hypothetical
protein MGC2865|polynucleotide kinase 3'-phosphatase|prostate tumor
overexpressed gene 1|carnitine palmitoyltransferase 1C|hypothetical protein
TCBAP0758 |
MGC2865|PNKP|PTOV1|CPT1C|TCBAP0758 |
Intron |
19 |
55061878 |
0.49 |
0.45 |
0.21 |
0.15 |
hCV1671350 |
TTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTC[C/T]CGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCG |
T |
T |
C___1671351_1_ |
rs2305922 |
IMS-JST063373 |
hypothetical
protein MGC2865|polynucleotide kinase 3'-phosphatase|prostate tumor
overexpressed gene 1|carnitine palmitoyltransferase 1C|hypothetical protein
TCBAP0758 |
MGC2865|PNKP|PTOV1|CPT1C|TCBAP0758 |
Intron |
19 |
55061918 |
0.48 |
0.35 |
0.37 |
0.42 |
hCV1671351 |
TCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCC[G/T]AAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAA |
G |
G |
C___1671356_1_ |
rs2290775 |
IMS-JST042883 |
hypothetical
protein MGC2865|polynucleotide kinase 3'-phosphatase|TBC1 domain family,
member 17|hypothetical protein FLJ12168 |
MGC2865|PNKP|TBC1D17|FLJ12168 |
Intron |
19 |
55067054 |
0.48 |
0.45 |
0.23 |
0.16 |
hCV1671356 |
GTGTCCTCCTCCTCAGCCACGGCCACTGCCACAGCCACCA[C/T]CTCCACCTCCCTGAAGCTTCTGAGACCCATTTCCTTCACC |
T |
T |
C___1671361_10 |
|
|
hypothetical
protein MGC2865|polynucleotide kinase 3'-phosphatase|TBC1 domain family,
member 17|hypothetical protein FLJ12168 |
MGC2865|PNKP|TBC1D17|FLJ12168 |
Intron |
19 |
55069955 |
0.48 |
0.43 |
0.24 |
0.16 |
hCV1671361 |
GGGAGCAGGGAGTCTGGAGTCTGAATGAAATTTGCAGGCC[C/T]TTTATGACTCACGATCATTGATGTTGGTGTTTGCTGAGCA |
C |
C |
C___1671366_1_ |
rs3745486 |
|
hypothetical
protein MGC2865|TBC1 domain family, member 17|hypothetical protein
FLJ12168|interleukin 4 induced 1 |
MGC2865|TBC1D17|FLJ12168|IL4I1 |
Mis-sense
Mutation |
19 |
55075448 |
0.47 |
0.36 |
0.41 |
0.43 |
hCV1671366 |
GAACCTGACTGGGCTGTCATCAGCACTGTGCGGCCACAGC[C/T]CTGCCACTCAGAGCCCACGAGAGGTAGGCTGAGGTGGCGG |
C |
C |
C__15885551_10 |
rs2290773 |
|
TBC1
domain family, member 17|hypothetical protein FLJ12168|interleukin 4 induced
1 |
TBC1D17|FLJ12168|IL4I1 |
Intron |
19 |
55083451 |
|
|
0.08 |
0.17 |
hCV15885551 |
GCCCCGCCCGAACCCCGACCGACCCCCGCCCCCTTCTCAC[C/G]TTCACCTTCCGCTTTTCGCTTCTCTCATCCCGTGCCTCCA |
G |
G |
C___1671377_10 |
|
|
nucleoporin
62kDa |
NUP62 |
UTR
3 |
19 |
55102944 |
0.37 |
0.36 |
0.33 |
0.4 |
hCV1671377 |
CTTGGAGGTTCTCTTACATTTGGTATTTTTTCATGACACC[C/T]ATGACTATGCTTTGGAGAGAGTGGCTGCCCCCACGACCCT |
C |
C |
C___1671389_1_ |
rs1152239 |
IMS-JST061003 |
nucleoporin
62kDa |
NUP62 |
Intron |
19 |
55112483 |
0.3 |
0.33 |
0.06 |
0.08 |
hCV1671389 |
CCTGAATCAGTTCCTCTTTCCTTTGCGTCAAAGAAAATCC[A/C]CCTAAACCTTGAATAACAGATCAGCTCCAAGTCTGCCCTT |
C |
C |
C___1671407_10 |
rs1152230 |
|
activating
transcription factor 5|nucleoporin 62kDa |
ATF5|NUP62 |
Intron |
19 |
55125315 |
0.28 |
0.35 |
0.06 |
0.07 |
hCV1671407 |
TTGGAGGGGCAGCGGCAGAGCGAGGAGTGGGATTTGAGTG[A/G]ATAACATTGCTGAAGGGCTGCGGCCTGGGGCAGTTCCCCT |
G |
G |
C___1672211_10 |
rs958975 |
|
vaccinia
related kinase 3|VRK3 for vaccinia related kinase 3 |
VRK3|LOC51231 |
Intron |
19 |
55180184 |
0.36 |
0.49 |
0.33 |
0.2 |
hCV1672211 |
AGCTGCAGTGTTTTGGGGTCTCCTTGTGAGAACAGCTCAG[C/T]CTTGTCCTGAACTAACCCATTAGAGTGTGTGAGGGAGCAT |
T |
T |
C____802054_10 |
|
|
vaccinia
related kinase 3|VRK3 for vaccinia related kinase 3 |
VRK3|LOC51231 |
Intron |
19 |
55216038 |
0.48 |
0.44 |
0.23 |
0.15 |
hCV802054 |
TGGAGAAAGGGCTATGGAGGACAATAAAGTACCATAGAAG[A/G]AAACAGGATGCCACAGAGGTTGGTGGGTCACTATTCACAC |
A |
A |
C___3064314_10 |
|
|
vaccinia
related kinase 3|VRK3 for vaccinia related kinase 3 |
VRK3|LOC51231 |
|
19 |
55220866 |
0.23 |
0.18 |
0.41 |
0.28 |
hCV3064314 |
TCTTCGGAAAAGGTTAACACTCCCTGACTTCTAGTAAAGG[C/T]AAGAAGCTAATTAGATGATTCTTTAACAAGGTAAAAATCT |
T |
T |
C___3064414_1_ |
rs2278282 |
|
|
|
|
19 |
55233955 |
|
|
0.33 |
0.2 |
hCV3064414 |
TACAAAATAAGTCTTGAATGAACACTTAAAGCAAAAGCGT[A/G]AAATAGATTTTTAGGATCAGGCAGACCTGGGTTCAGTCCC |
A |
A |
C___3064415_1_ |
rs2278283 |
|
|
|
|
19 |
55234171 |
|
|
0.41 |
0.28 |
hCV3064415 |
AAAGCCCTGGCAGATTGAGGGCTGGGAGTGCCCTGAGTGA[A/G]CTGTTGGGCTCCTCCCTGACCCCAGCCTCTGAGTGACCAA |
A |
A |
C___3064417_10 |
rs1469461 |
|
|
|
|
19 |
55237414 |
|
|
0.18 |
0.33 |
hCV3064417 |
CAAGCCGGGGTTCCTCCAGGTGGATCAGGTTAGGTGGTGA[A/G]GATTCCTGGGGTATTACCCATGGTAGAGACGTCCCCAGCA |
A |
A |
C___3064432_1_ |
rs3745496 |
|
|
|
|
19 |
55248400 |
|
|
0.41 |
0.36 |
hCV3064432 |
GAGCTAAGAGGAGTGACCAGATTACTGACATGTCTCTTAA[G/A]CACCTGGATCCATCTGTTCCTGAAGGCAAAACTGTTCAAT |
A |
A |
C___1656121_10 |
rs4801822 |
|
myosin,
heavy polypeptide 14|hypothetical protein FLJ13881 |
MYH14|FLJ13881 |
Silent
Mutation |
19 |
55418382 |
0.39 |
0.27 |
0.43 |
0.32 |
hCV1656121 |
TTACGGGGACACCCGGCTCCTTCCTGCCCTTTGGAGACGA[C/T]GCCACGTGGGCGAGGTACTGGATGACCTTCTTGGTGTTTT |
A |
G |
C___1656089_10 |
rs630283 |
|
myosin,
heavy polypeptide 14|hypothetical protein FLJ13881 |
MYH14|FLJ13881 |
Intron |
19 |
55437220 |
0.47 |
0.39 |
0.4 |
0.28 |
hCV1656089 |
CTAGAATATGTCTCAGGAACTTGTGGAGGGGTCGGGTGTT[C/T]CTGGACGTCACCAGGACTAGGCAGTCCACTTGGATGCGGA |
G |
G |
C___3057350_10 |
|
|
myosin,
heavy polypeptide 14|hypothetical protein FLJ13881 |
MYH14|FLJ13881 |
Intron |
19 |
55443610 |
0.37 |
0.48 |
0.43 |
0.26 |
hCV3057350 |
CAGTACCCCAGCTGAGATTGAACCCGGGTCAGTGTGGCTC[C/T]CAGACTCCTCATCTCCCCCACGGGGTCTTCATCCAGGTAC |
A |
G |
C___2942248_1_ |
rs3745504 |
|
myosin,
heavy polypeptide 14|hypothetical protein FLJ13881 |
MYH14|FLJ13881 |
Silent
Mutation |
19 |
55463421 |
|
|
0.32 |
0.24 |
hCV2942248 |
CTGGTGGGCATGCAGGGGGCCAGACCTGTATGTGCTGCTG[C/T]AGCCTCTTCTTCTCGGTTTGCATTTGACGGCTGCACTCCT |
A |
A |
C___3168725_10 |
rs653584 |
|
myosin,
heavy polypeptide 14|hypothetical protein FLJ13881 |
MYH14|FLJ13881 |
Intron |
19 |
55483167 |
0.37 |
0.5 |
0.12 |
0.3 |
hCV3168725 |
TCAGAGGATGAATGAAGGAAGGATGGAGTGGAGGATGTGG[C/T]GGGTCATTTTGACCATTCGGAAGGCTGGGACACTGGCTGG |
A |
A |
C___1993322_10 |
rs683856 |
|
potassium
voltage-gated channel, Shaw-related subfamily, member 3|myosin, heavy
polypeptide 14|hypothetical protein FLJ13881 |
KCNC3|MYH14|FLJ13881 |
Intron |
19 |
55514220 |
|
|
0.18 |
0.03 |
hCV1993322 |
GGGGATAAGACAGTGGTGCTATTTAGTAGACGAATCATTC[A/C]GCAAATATCACCAAGTACCTACCACATGCTAGGAATTTAA |
T |
T |
C___1993242_10 |
|
|
nuclear
receptor subfamily 1, group H, member 2|polymerase (DNA directed), delta 1,
catalytic subunit 125kDa |
NR1H2|POLD1 |
|
19 |
55579088 |
0.14 |
0.18 |
0.15 |
0.2 |
hCV1993242 |
TGTTGCGCGCGCATCCTCCGCGTCCCCCCGCCCGCCTCTC[G/C]CCCGGGGCCGTGTAGGGAGCGCTGCCCCGTCGCTGCCCAG |
G |
G |
C___1655662_10 |
rs1726787 |
|
polymerase
(DNA directed), delta 1, catalytic subunit 125kDa |
POLD1 |
Intron |
19 |
55594143 |
0.13 |
0.31 |
0.16 |
0.21 |
hCV1655662 |
ACCAAAGGCAAGACCAGGGGCAATGGGTTGGGCAGCAGGA[A/G]CCTCCAACTCCAAGCCTTACCGTCTGCAACCCCCTCCAGG |
C |
C |
C___1655585_1_ |
rs1673041 |
IMS-JST063159 |
polymerase
(DNA directed), delta 1, catalytic subunit 125kDa |
POLD1 |
Intron |
19 |
55601201 |
0.36 |
0.15 |
0.33 |
0.28 |
hCV1655585 |
AGAGGCAGGGTGTGCAGCAGGCTGCGGGTCCCCGTCACAT[C/A]AGCCTGAAGAACGGAGATTGAGACCAACCACAACATCCTT |
G |
G |
C___1655566_1_ |
|
|
Spi-B
transcription factor (Spi-1/PU.1 related)|myosin binding protein C, fast type |
SPIB|MYBPC2 |
UTR
3 |
19 |
55623776 |
0.27 |
0.45 |
0.18 |
0.14 |
hCV1655566 |
ATGAGATTCAGGGTTTACAGACACACAGCGATCTTAAAAA[C/G]GTCCCAGGCCTCACTGGGGAATCAGATATCACAAGAAAAT |
C |
C |
C____305079_1_ |
rs2293455 |
IMS-JST046589 |
Spi-B
transcription factor (Spi-1/PU.1 related)|myosin binding protein C, fast type |
SPIB|MYBPC2 |
Intron |
19 |
55632406 |
0.24 |
0.44 |
0.35 |
0.27 |
hCV305079 |
GCCCCCTTTTCTCCATCTCTTGGACCAGCACAACCTTGCT[C/G]AGGCCTGGGCATCCTCTAGTTCTAGACCAGCTCATACTCA |
C |
C |
C___1655600_10 |
rs1673028 |
|
myosin
binding protein C, fast type |
MYBPC2 |
Intron |
19 |
55644865 |
0.4 |
0.42 |
0.28 |
0.3 |
hCV1655600 |
CCCTACACAGAACACAGGGAAAACCTACATCCCACCAAGA[G/A]CTATTGCCAGGAAGCCCTGAACGGCACGATGTTCTCCAGG |
C |
C |
C___1655546_10 |
|
|
hypothetical
protein LOC284361 |
LOC284361 |
Intron |
19 |
55672729 |
0.19 |
0.07 |
0.48 |
0.32 |
hCV1655546 |
ATTGCCAAAGCAACTATCCCAAGGTCACTTCCAAGCCTTG[A/C]GCCACAAATACTCATGAGTTAAATGACACTCTCCCTCTCC |
T |
T |
C___1655541_10 |
|
|
hypothetical
protein LOC284361 |
LOC284361 |
|
19 |
55680573 |
0.33 |
0.18 |
0.14 |
0.26 |
hCV1655541 |
CGTGATTGGGACAGGGCAGTGCTCTGGTCCATGAGGTTGG[A/G]CAGGTGATGGCACCACTCACTGGAACAAAGATCCCTGGAG |
T |
T |
C___2001559_10 |
|
|
synaptotagmin
III |
SYT3 |
Intron |
19 |
55822411 |
|
|
0.15 |
0.17 |
hCV2001559 |
AGAGGCTCCTCCTGTGCCTCCCCATAACCCTGGCCCCTGA[C/T]ACAAGGCCCGACCATCTAGACCTGGAGCTGCCGAGGGCTG |
T |
T |
C___2001569_10 |
|
|
synaptotagmin
III |
SYT3 |
Intron |
19 |
55832318 |
0.16 |
0.19 |
0.07 |
0.08 |
hCV2001569 |
GTCTCCTGGCCATAGTGCAAGCAGGGGGCTGGCCAAGACA[G/A]GCAGGGGTGCTGACCTGCATCTGGACCCCGGGGATAGCCT |
A |
A |
C___8703660_10 |
rs889133 |
|
|
|
|
19 |
55850292 |
|
|
0.38 |
0.25 |
hCV8703660 |
GGTAAAACTCTAGGATTGTAGGGGAAGGGGAAAATGGAGT[A/G]CATGGAACAACTAGCACTTGGCCATAAGAGAGAGACCAGT |
G |
G |
C___3173874_10 |
|
|
SH3
and multiple ankyrin repeat domains 1 |
SHANK1 |
Intron |
19 |
55869332 |
0.1 |
0.05 |
0.09 |
0.09 |
hCV3173874 |
AGGGCCTGCTGTTCTACAAGCAAGTGTTAGATGAGTAACA[C/G]GGAGAATCAGCCAAGGTCAGGCACTTCGGGGCCCTGACTC |
C |
C |
C___2932092_10 |
|
|
SH3
and multiple ankyrin repeat domains 1 |
SHANK1 |
Intron |
19 |
55896945 |
0.33 |
0.3 |
0 |
0.06 |
hCV2932092 |
AAGCAGGGGAGACTGGCTCCACTTTCCAGATGAAGGTGGA[A/T]AAACCAAAGGGAGGTGAACCCTGATAACAGCACCACCATT |
T |
T |
C___2932091_10 |
|
|
SH3
and multiple ankyrin repeat domains 1 |
SHANK1 |
Intron |
19 |
55897128 |
0.06 |
0.03 |
0.14 |
0.1 |
hCV2932091 |
GCAGGAGGCAAAGTTAAGGCTGCTCGGCCTCACGCTCTGC[G/A]CCAGGTGGCAGGAAGGACTGTGGGCTTGGACTGAGGACCT |
G |
G |
C___2932084_10 |
|
|
SH3
and multiple ankyrin repeat domains 1 |
SHANK1 |
Intron |
19 |
55902263 |
0.21 |
0.22 |
0.39 |
0.25 |
hCV2932084 |
ACCCCGTCTCACTGAAATTCCATTTCCTGTTATTTGTCTC[A/G]GTAGTGTCTCTTCTCCTCTACACCATAAGTTGTACAGGGG |
G |
G |
C___2932079_1_ |
rs3745530 |
|
SH3
and multiple ankyrin repeat domains 1|stem cell growth factor; lymphocyte
secreted C-type lectin |
SHANK1|SCGF |
Intron |
19 |
55909362 |
|
|
0.07 |
0.05 |
hCV2932079 |
CCGAGCTGCACATACTCCAGGAACTTCTTCAACCCCGTCT[A/G]AGCCATGGGCAAAGAGAGAGAAGACAGGACAGTCAGGAGC |
A |
A |
C___2421328_10 |
rs722035 |
|
SH3
and multiple ankyrin repeat domains 1|stem cell growth factor; lymphocyte
secreted C-type lectin |
SHANK1|SCGF |
|
19 |
55922035 |
0.29 |
0.14 |
0.45 |
0.35 |
hCV2421328 |
CCTTCCCTTCCTTCAGCCATTGCACCACTGCCTAAAGGGT[C/G]ACCATTGGATCCACACATGGGAGGAGCAAGCCATCACTGT |
C |
C |
C___2932070_10 |
rs722036 |
|
SH3
and multiple ankyrin repeat domains 1|stem cell growth factor; lymphocyte
secreted C-type lectin |
SHANK1|SCGF |
|
19 |
55922302 |
0.25 |
0.15 |
0.43 |
0.31 |
hCV2932070 |
CCAACCAGAGGTCAGATTAGGCAGACAATGATGAGTATCT[G/A]TTATTTCCCAGAGGGGTCTCTGCCCTGGCAGAGCTTCCAT |
G |
G |
C___2932016_10 |
|
|
|
|
|
19 |
55953763 |
|
|
0.27 |
0.3 |
hCV2932016 |
CTCTGCCCATCCTCGTGTACTATATTGTCTCCAGGCAGTG[G/T]CTCCTTGGAGAGTGGGCCTGCAAACTCTACACCGGTTTTG |
T |
T |
C__16232369_10 |
rs2411335 |
|
G
protein-coupled receptor 32 |
GPR32 |
|
19 |
55970401 |
0.3 |
0.49 |
0.15 |
0.17 |
hCV16232369 |
ATCACTAAGTGAACAACCAGGCAACCCAGCCATAAAACAA[C/T]GTGGCCACCCCAGGGCTCCCCTCCCACCTCCTCGCCCTCT |
C |
C |
C___2931973_10 |
rs1465557 |
|
G
protein-coupled receptor 32 |
GPR32 |
|
19 |
55973037 |
0.31 |
0.14 |
0.17 |
0.13 |
hCV2931973 |
GTTGCATAAATTCCTCCTGGGGAACTGCCGGGTTAGAGGG[A/C]GTGTTCGATGTCGCAGACGCCGCCGCGAGCGCTCTGCAAG |
A |
A |
C__11508164_10 |
|
|
G
protein-coupled receptor 32 |
GPR32 |
|
19 |
55975401 |
0.35 |
0.36 |
0.12 |
0.26 |
hCV11508164 |
GGCCAAGGTCCCAGCCAGGACGTGGATGTCAGGGCCGAGA[C/T]TGGAATGTAGAACCGTGGGAGTCCAGAGCCCAGGTCCTTC |
T |
T |
C__16057219_10 |
rs2659063 |
|
multidrug
resistance-related protein|acid phosphatase, testicular |
MGC13170|ACPT |
Intron |
19 |
55998114 |
|
|
0.12 |
0.1 |
hCV16057219 |
AGAGAAAGCTGCCAAGACACAAATCCCCTGGAAGAACTTA[C/T]TGAGAGAAGGAAGAAGAAACAAAGCCAACTTGTAAATAAT |
G |
G |
C__15878664_10 |
rs2288417 |
IMS-JST039648 |
multidrug
resistance-related protein|acid phosphatase, testicular |
MGC13170|ACPT |
|
19 |
55999869 |
0.05 |
0.15 |
0.32 |
0.47 |
hCV15878664 |
CTGAACAAGCGAGGAGACGCTGTCTCTGGGGCTGACAAAA[A/C]GGGGCAAGGATATGATGGAAACGATTGTCTTGTCACCTGC |
T |
T |
C___8705487_10 |
rs788887 |
|
multidrug
resistance-related protein|hypothetical gene MGC45922 |
MGC13170|MGC45922 |
|
19 |
56004542 |
|
|
0.18 |
0.28 |
hCV8705487 |
TATAGATGGTTTAAAACGAAGGTGTTTTTTATAGTTTTTA[A/G]AAAACTCATGCTTTTTTTGCGCAATATTCTATACCTTGTA |
C |
C |
C___8705506_1_ |
rs5516 |
IMS-JST060444 |
hypothetical
gene MGC45922|kallikrein 1, renal/pancreas/salivary|kallikrein 15 |
MGC45922|KLK1|KLK15 |
Mis-sense
Mutation |
19 |
56015285 |
0.36 |
0.35 |
0.18 |
0.27 |
hCV8705506 |
CAGCCGGAAGCCAAACAGGTGCTCCCCACTTCGGGTTCCT[C/G]GGTGGGCAACTCCACGACCTTCACAGCGTCTGTGATGGTA |
C |
C |
C___2932114_1_ |
rs1054713 |
|
hypothetical
gene MGC45922|kallikrein 1, renal/pancreas/salivary|kallikrein 15 |
MGC45922|KLK1|KLK15 |
Silent
Mutation |
19 |
56015313 |
|
|
0.23 |
0.34 |
hCV2932114 |
CTTCGGGTTCCTCGGTGGGCAACTCCACGACCTTCACAGC[A/G]TCTGTGATGGTATCAGCAGGCTCTGTCAGGCGGAGCAGCA |
A |
A |
C___1531087_10 |
rs266115 |
|
kallikrein
1, renal/pancreas/salivary|kallikrein 15 |
KLK1|KLK15 |
Intron |
19 |
56025050 |
0.19 |
0.19 |
0.19 |
0.13 |
hCV1531087 |
TGGGGCAGCACCCAGACACGGGGCTGGGCATTCAAGGTCA[A/G]AGACATGCAGCTGAAGCCAGAGGCAGCCAGGGCAGGACAT |
G |
G |
C___1531063_10 |
rs925013 |
|
kallikrein
3, (prostate specific antigen) |
KLK3 |
|
19 |
56045413 |
0.25 |
0.07 |
0.41 |
0.32 |
hCV1531063 |
TTGACCCTCTCTTTTAGGGCTCTTTCTGACCTCCACCATG[A/G]TACTAGGACCCCATTGTATTCTGTACCCTCTTGACTCTAT |
G |
G |
C___7804303_1_ |
rs2292186 |
IMS-JST044846 |
kallikrein
3, (prostate specific antigen) |
KLK3 |
Intron|Silent
Mutation |
19 |
56050206 |
0.3 |
0.1 |
0.41 |
0.34 |
hCV7804303 |
ACAGGGAGCTGGGCTCTTTTCTGTCTCTCCCAGCCCCACT[C/T]CAAGCCCATACCCCCAGCCCCTCCATATTGCAACAGTCCT |
T |
T |
C___1531049_1_ |
rs266880 |
IMS-JST044845 |
kallikrein
3, (prostate specific antigen) |
KLK3 |
Intron|Mis-sense
Mutation |
19 |
56050283 |
0.44 |
0.48 |
0.18 |
0.24 |
hCV1531049 |
TCCTCACTCCCACACCAGGTCCCCGCTCCCTCCCACTTAC[C/G]CCAGAACTTTCTCCCCATTGCCCAGCCAGCTCCCTGCTCC |
G |
G |
C___1531026_10 |
rs2739459 |
|
kallikrein
2, prostatic|kallikrein 3, (prostate specific antigen) |
KLK2|KLK3 |
|
19 |
56060886 |
0.32 |
0.47 |
0.17 |
0.17 |
hCV1531026 |
TACAGGTATTACAAGCACAGCCTAATGGCAAATCTTTGGC[A/G]TGGCTTGGCTTCAAGACTTTAGGCTCTTAAAAGTCGAATC |
G |
G |
C___3032276_10 |
|
|
kallikrein
2, prostatic |
KLK2 |
|
19 |
56068318 |
0.1 |
0.06 |
0.03 |
0.12 |
hCV3032276 |
GCCCAATCTGACCTCACACCGTGGGAATGCCTCCAGACTG[A/G]TCTAGTATGTGTGGAACAGCAAGTGCTGGCTCTCCCTCCC |
G |
G |
C__15867933_10 |
rs2070854 |
|
kallikrein
2, prostatic |
KLK2 |
Intron |
19 |
56068702 |
|
|
0.02 |
0.05 |
hCV15867933 |
CCCCAGCCTCGTCCCTTCAGCCCACAGTTCAGCCCAGACA[A/G]TGTGCCCCTGACTCTTCCACATTGCAATAGTCCTCATGCC |
#N/A |
#N/A |
C____736084_10 |
rs198977 |
IMS-JST045030 |
kallikrein
2, prostatic |
KLK2 |
Mis-sense
Mutation |
19 |
56073589 |
0.29 |
0.32 |
0.22 |
0.33 |
hCV736084 |
GCCTGAAAAGCCTGCTGTGTACACCAAGGTGGTGCATTAC[T/C]GGAAGTGGATCAAGGACACCATCGCAGCCAACCCCTGAGT |
#N/A |
#N/A |
C___3032267_10 |
rs198957 |
|
kallikrein
2, prostatic |
KLK2 |
|
19 |
56081372 |
|
|
0.23 |
0.27 |
hCV3032267 |
TGCACATGTGATCACTTGGGCTCTTATTATATAAGCCACA[T/C]GTACATGCATATGAATTTCTGCTTAAGGCACACAGTCTAT |
T |
T |
C___8705909_10 |
rs1654513 |
|
|
|
|
19 |
56094494 |
0.23 |
0.15 |
0.28 |
0.26 |
hCV8705909 |
GAAGCTCAAAGTCTAGAATCTGAATTTGGTGACTGAGGTC[T/C]TCATTTTGGAGTTAAGATTTTTTTATGTAGATCACAAGAG |
T |
T |
C__15879128_10 |
rs2235091 |
IMS-JST015001 |
kallikrein
4 (prostase, enamel matrix, prostate) |
KLK4 |
Intron |
19 |
56102283 |
0.44 |
0.49 |
0.22 |
0.24 |
hCV15879128 |
AACAAAGACAGAACCATCATCAATAACAACATAGCCCAGC[G/A]ACATATCTGTTGGAAGTCCCATTCCAGATCCCTGACTTCA |
#N/A |
#N/A |
C____736068_1_ |
rs198968 |
IMS-JST014998 |
kallikrein
4 (prostase, enamel matrix, prostate) |
KLK4 |
Intron |
19 |
56105140 |
0.15 |
0.11 |
0.39 |
0.2 |
hCV736068 |
CGGTCAGGAGGGGTTCAACAGAGGAGTCTAGGCTCATAGC[A/G]GTAGGATCGGGTCCTTCGGGGTGAATTAAAGCTCAGGGGG |
G |
G |
C___1531017_10 |
rs1701932 |
|
kallikrein
4 (prostase, enamel matrix, prostate) |
KLK4 |
|
19 |
56111506 |
0.3 |
0.18 |
0.2 |
0.15 |
hCV1531017 |
ACACAGGTCATGGGGGCCCACCCTGGCCCACTATCCATCA[T/C]CTGAGTCATCTGAGTTCACCCCCACCTGCGGATGAGATGC |
C |
C |
C___1530872_1_ |
rs1701946 |
IMS-JST000071 |
kallikrein
8 (neuropsin/ovasin)|kallikrein 9 |
KLK8|KLK9 |
Intron |
19 |
56195336 |
0.37 |
0.2 |
0.43 |
0.25 |
hCV1530872 |
GCTGTGGTCTCCCAGGCGTACTGTGTATTTCCTGTAATGG[T/C]GGGGATAGTTTGGGACCCAGGCAGGGGTATTGCCCCCAGC |
C |
C |
C__11715588_1_ |
rs2075802 |
IMS-JST003610 |
kallikrein
10|kallikrein 8 (neuropsin/ovasin)|kallikrein 9 |
KLK10|KLK8|KLK9 |
Silent
Mutation |
19 |
56198832 |
0.42 |
0.24 |
0.28 |
0.21 |
hCV11715588 |
CCTCCCACAGGCCCGCACAGAGCATGCTGTCCGAGATGTG[G/T]CCAGGGTATGCCCAGTGACAGAGTTTGTTCTCCAGGATGC |
G |
G |
C__16166786_10 |
rs2066975 |
|
kallikrein
10|kallikrein 8 (neuropsin/ovasin)|kallikrein 9 |
KLK10|KLK8|KLK9 |
Intron |
19 |
56204166 |
|
|
0.14 |
0.06 |
hCV16166786 |
|
#N/A |
#N/A |
C___8704128_30 |
rs10426 |
|
kallikrein
10|kallikrein 11|kallikrein 8 (neuropsin/ovasin)|kallikrein 9 |
KLK10|KLK11|KLK8|KLK9 |
UTR
3 |
19 |
56209610 |
0.16 |
0.16 |
0.2 |
0.1 |
hCV8704128 |
GTGACCCCAGTAACTGCTCTCAGAGGCTGGGTGATGACCG[A/G]CTTCCTGGCTTCTCTGGAATAAACCTTTGCCACCACTTCC |
A |
A |
C__16166666_10 |
rs2075690 |
IMS-JST003407 |
kallikrein
10|kallikrein 11|kallikrein 8 (neuropsin/ovasin)|kallikrein 9 |
KLK10|KLK11|KLK8|KLK9 |
Mis-sense
Mutation|Silent Mutation |
19 |
56211048 |
0.49 |
0.21 |
0.38 |
0.36 |
hCV16166666 |
ACAGCGGTAGGGAAGCTGCAGGGCCCGGACGCGGGGCCCC[A/G]GCACTACGGGCCTGGCCAGCTTTAGCAACATGAGATCGTG |
#N/A |
#N/A |
C___1844292_10 |
|
|
kallikrein
11|kallikrein 12 |
KLK11|KLK12 |
|
19 |
56229966 |
0.41 |
0.48 |
0.38 |
0.33 |
hCV1844292 |
CCTCGTCGCTGCTATCTCTCCGTCCACCTACCTGCCTGTC[G/T]TCTCATGTGCTGGCCACTCCGCCAGCCAACTCTACCACTC |
T |
T |
C___1844291_10 |
rs3760739 |
|
kallikrein
11|kallikrein 12 |
KLK11|KLK12 |
|
19 |
56230373 |
0.32 |
0.23 |
0.34 |
0.32 |
hCV1844291 |
TAGGGAGCTGGGTTCTAATCCTGACTCCAGTGACAAAGGA[T/G]GGTGGGGAGACCTTGGACACCTGGGGCCCATCCCCATGCA |
T |
T |
C___7805411_10 |
|
|
kallikrein
13 |
KLK13 |
|
19 |
56242667 |
0.06 |
0.38 |
0.18 |
0.29 |
hCV7805411 |
CGTGTATCCTTTGCTATTGTTTTTATTATTGTGTATCCTT[C/T]GCAATTATTTTCGCTCTCTTGTCTCCTTTACAGTTATCCT |
T |
T |
C___1844275_10 |
rs1880413 |
|
kallikrein
13 |
KLK13 |
Intron |
19 |
56252279 |
0.4 |
0.18 |
0.18 |
0.11 |
hCV1844275 |
TTAAGGCTCATTTGTGTCTCTCACTATTGAGTGAACCCAT[C/T]CATATCTGGGCAGGGTATGCAACACACGTGTAAGTCTATT |
T |
T |
C___1844267_10 |
rs2736433 |
|
kallikrein
13 |
KLK13 |
Intron |
19 |
56258755 |
0.34 |
0.49 |
0.4 |
0.3 |
hCV1844267 |
GGCACTCAGGAGTGGCACGGGCATGAATCCAGGGAGTGTC[A/G]CCAGAGGAGAAAAGCCACCCCACCTTCAGGCCAAGGATGG |
A |
A |
C___1844502_10 |
rs2691244 |
|
kallikrein
14 |
KLK14 |
Intron |
19 |
56277071 |
0.41 |
0.23 |
0.44 |
0.47 |
hCV1844502 |
CCTTGCTACATCTACGACCCTTAGCTCTATGCTCCCATAA[C/T]TTCTGTGATCACTTCTCGAAATATGCCACATTTCCCCCCA |
T |
T |
C___1487493_10 |
rs1039405 |
|
sialic
acid binding Ig-like lectin 9 |
SIGLEC9 |
|
19 |
56318049 |
0.35 |
0.17 |
0.44 |
0.36 |
hCV1487493 |
CACATTTCCCTGAGCCTCTGTGCAGAGTGAGTTGCAGGAC[A/G]GCTGCTGAGGCAGGCAGCCTAGTCGGGTGTTTGGGCTGTC |
A |
A |
C___1487485_10 |
|
|
sialic
acid binding Ig-like lectin 7|sialic acid binding Ig-like lectin 9 |
SIGLEC7|SIGLEC9 |
|
19 |
56334596 |
0.38 |
0.33 |
0.49 |
0.33 |
hCV1487485 |
GTCATATGTGGTTCACAAGTTCCTCCTTTCTACAGATTCT[G/T]TGGCTTCCTTAAGTCTCTCCTTCCCATTTTTTTTTCTGAT |
T |
T |
C____709336_10 |
rs273671 |
|
sialic
acid binding Ig-like lectin 7 |
SIGLEC7 |
|
19 |
56353280 |
0.06 |
0.41 |
0.32 |
0.45 |
hCV709336 |
CAAGCAAACCCCAGAACTATACCTGGCCCATCTCATCCAG[C/G]ATCCCCCATGACTTTGAGAATCTTGTCTGAAACCCTGTCT |
G |
G |
C____709316_10 |
rs273645 |
|
CD33
antigen (gp67)|hypothetical protein FLJ40235 |
CD33|FLJ40235 |
|
19 |
56444082 |
0.49 |
0.14 |
0.44 |
0.36 |
hCV709316 |
GTTATTTTGACAATTGGGAGAGCTCAAGTTCATGGGGTAA[T/G]GTTTGGGAAAGGGACAGAAATAGGTAACTTACTGAAACAC |
G |
G |
C___1487333_10 |
rs875283 |
|
hypothetical
protein FLJ40235 |
FLJ40235 |
Intron |
19 |
56459297 |
0.48 |
0.16 |
0.44 |
0.47 |
hCV1487333 |
GAGAAAGAGGACATATGGGCATAAGTACCAAATAATCAAC[A/G]TGAATTAGACAGCTTCTGTGTGTCAGATTTTGACAGGGCT |
A |
G |
C___1487326_10 |
|
|
hypothetical
protein FLJ40235 |
FLJ40235 |
Intron |
19 |
56461944 |
0.12 |
0.26 |
0.07 |
0.12 |
hCV1487326 |
TCGGAGCCATGGAAGAGTGCTAAGCTGTGAAGGAAAGCTT[C/G]AGCTTGGGGTGGGACACAGATTAGAGAGAGTGAGAGCCAG |
C |
C |
C___1487294_10 |
rs1626153 |
|
|
|
|
19 |
56477836 |
0.07 |
0.36 |
0.28 |
0.24 |
hCV1487294 |
CAATATGGAATTCACACTTCCAGCATCTTCCTGATACCAA[C/G]TGAGTATCCAGGGACCTAGTGACTGAGCTGGAAAGAACAC |
G |
G |
C___1516705_10 |
|
|
|
|
|
19 |
56507702 |
0.4 |
0.24 |
0.48 |
0.48 |
hCV1516705 |
ATACAGGAAGTTGGGGTGCTGGGCTGGGGTCTTGGATTCC[G/C]AAGCTCTGATTGAATGTCTAGGTTCGTGGGGCTGGACAGT |
G |
C |
C___1516696_10 |
|
|
|
|
|
19 |
56514827 |
0.26 |
0.27 |
0.48 |
0.47 |
hCV1516696 |
GATCCTCCTTTCCAGCTGACCTGCTGCTGGGTGCCTGTGC[A/G]GAGCTGGGTCTGTCAGCATCACTGTATATACACACCTGTC |
A |
G |
C___2885192_10 |
|
|
|
|
|
19 |
56527361 |
0.06 |
0.04 |
0.31 |
0.28 |
hCV2885192 |
AGGGGACCTTTTCAGAGAACATGGCCAAGCTCCCTCTCTA[A/G]CTCAGAGCAACACAGCAAGCCCTGCCTGTCTGCTGCAGAG |
A |
A |
C___2885201_10 |
|
|
electron-transfer-flavoprotein,
beta polypeptide |
ETFB |
|
19 |
56535620 |
0.41 |
0.29 |
0.38 |
0.41 |
hCV2885201 |
GCACAGGGCGCACGATGAGCAGCTGGTCGCCCTCTGAGCG[T/C]ATCCGGGGCGTCTCGGCTCCCTCCGATTCCGCCGCCTCCA |
C |
C |
C___2885203_10 |
rs1035454 |
|
electron-transfer-flavoprotein,
beta polypeptide |
ETFB |
|
19 |
56537368 |
0.39 |
0.26 |
0.37 |
0.33 |
hCV2885203 |
GATCCTCAACCCCAGTGTGGTGGCTGAGCTGCCCACCTCA[C/T]CCCACTCTCTTCATTAGCTGGTCCCATCTGCAGAGAGGCC |
T |
T |
C___2885211_10 |
|
|
electron-transfer-flavoprotein,
beta polypeptide |
ETFB |
Intron |
19 |
56542881 |
0.41 |
0.24 |
0.16 |
0.23 |
hCV2885211 |
TGCCCTTATGAACCTGCCCCTGGAGACACACTGTGAACAC[A/G]ACCAGTGAAGCACCAGCTTGGGTGGGCTCATATTCTGCCA |
A |
A |
C___2885242_10 |
|
|
electron-transfer-flavoprotein,
beta polypeptide|hypothetical protein MGC33839|natural killer cell group 7
sequence |
ETFB|MGC33839|NKG7 |
Intron |
19 |
56558136 |
0.21 |
0.33 |
0.29 |
0.33 |
hCV2885242 |
TTGAACTTTCATCTCTAGCAAACATACTTTCCTCTCCCTT[C/T]CTAGTTGCTAAGTATAGGGGAAAACACAGCAAAACACAGG |
C |
C |
C___2885247_10 |
rs3009 |
|
electron-transfer-flavoprotein,
beta polypeptide|hypothetical protein MGC33839|lens intrinsic membrane
protein 2, 19kDa|natural killer cell group 7 sequence |
ETFB|MGC33839|LIM2|NKG7 |
UTR
3 |
19 |
56566762 |
0.47 |
0.23 |
0.23 |
0.23 |
hCV2885247 |
GAGGAGGGGCTGGGGAAGGGCTGGAAGGGCGGGCAGATGT[G/A]GGACCAGACTTTCCCGAGGCTCCAGATGAGGCCTTTGGAA |
G |
G |
C___2885254_1_ |
|
|
lens
intrinsic membrane protein 2, 19kDa|natural killer cell group 7 sequence |
LIM2|NKG7 |
|
19 |
56574475 |
|
|
0.39 |
0.26 |
hCV2885254 |
TTTTCATTTGTCCGATTATCCTACACATCCATATCCTGGA[A/C]GTTGAACTGTGGTGAGCTCCTGGACACGGACTGTTGATTC |
A |
A |
C__15895118_10 |
|
|
lens
intrinsic membrane protein 2, 19kDa|natural killer cell group 7 sequence |
LIM2|NKG7 |
Intron |
19 |
56575539 |
|
|
0.39 |
0.27 |
hCV15895118 |
|
#N/A |
#N/A |
C___2885293_10 |
|
|
sialic
acid binding Ig-like lectin 10 |
SIGLEC10 |
|
19 |
56598818 |
0.17 |
0.48 |
0.14 |
0.18 |
hCV2885293 |
GGGAGAATGACCGGGAGTTGCCGATACGTGGAGTGAGGGA[T/C]AAGTCAGAGTTGTTCCTAAGATTTTGAGTTTGGGCAATGG |
C |
C |
C___3057051_10 |
rs2607258 |
|
|
|
|
19 |
56664239 |
0.16 |
0.11 |
0.07 |
0.04 |
hCV3057051 |
GATAGGAGAATGAGCAAGGCATGAGGGTGCACAGACACTC[T/C]TGTACAGTCACAGACTCCTGCACTTCCAGCTAGAAAACTG |
T |
T |
C__11465020_10 |
rs1902604 |
|
SIGLEC-like
1 |
SIGLECL1 |
|
19 |
56680384 |
|
|
0.13 |
0.1 |
hCV11465020 |
AGGACCTGAAGCTGATGGGAGCAAGAGAGGGTTTAGAGTC[G/A]GCCATGGTTCTAAATAGCTGTGGGGTTTCTTCTAGCAACT |
A |
A |
C___3057052_10 |
|
|
SIGLEC-like
1 |
SIGLECL1 |
Mis-sense
Mutation |
19 |
56693297 |
0.45 |
0.12 |
0.17 |
0.31 |
hCV3057052 |
AGCCTGGCAGGGGGATTGCTGTCGACAGCACAGACAAGGT[A/G]CAGGGACTGGCCCTCCAGGACTGAAAGGGCCGAGCCATTC |
A |
A |
C___1654798_10 |
|
|
sialic
acid binding Ig-like lectin 6 |
SIGLEC6 |
Intron |
19 |
56723460 |
|
|
0.42 |
0.44 |
hCV1654798 |
GACTCAGTCACTCACCATTTCACTGCCCTGTGAACCCGGA[G/A]CCAGCCTCTTCTCTCTCCATGACTCCCCCTTCCCCCAACT |
G |
A |
C___1654800_1_ |
rs2305771 |
IMS-JST063178 |
sialic
acid binding Ig-like lectin 6 |
SIGLEC6 |
Intron |
19 |
56725384 |
0.11 |
0.1 |
0.08 |
0.08 |
hCV1654800 |
TCCTGCCGAAGAGGCGACAAAGGCTGGGGGTGAGCAAAGA[T/C]TCAGTCCAGGTCTTTGAAGTCTATGGAGGCCTTAGTCCTG |
C |
C |
C__11465054_1_ |
rs1993462 |
IMS-JST063180 |
sialic
acid binding Ig-like lectin 6 |
SIGLEC6 |
Silent
Mutation |
19 |
56726281 |
0.27 |
0.15 |
0.06 |
0.08 |
hCV11465054 |
AGAGCTTGGAAGATGTATAACCGTATTTCATCCATTTGGA[C/T]TTCAACCGAAAGAAGTATGCAGCATTGTCCCTCCTCCGGG |
T |
T |
C___1654848_10 |
|
|
zinc
finger protein 175 |
ZNF175 |
|
19 |
56759540 |
0.34 |
0.49 |
0.1 |
0.16 |
hCV1654848 |
TACCTATCACGTTCAAAGACAGTGTCTTTTGCTTGAAGCT[A/G]AATTTCACGACAGGACCCCTCTCCAACCGAAATAAATACA |
A |
A |
C___2184192_1_ |
rs2305371 |
IMS-JST062650 |
zinc
finger protein 175 |
ZNF175 |
UTR
5 |
19 |
56768293 |
0.19 |
0.3 |
0.19 |
0.33 |
hCV2184192 |
GCTGCAGGATCTCTCTTCATAGCCCAGTACGACTCTCCGC[A/C]GTGTCCCTGGTTGGAAAATCCAAACACCTATCCAGCTTCT |
C |
C |
C___2184223_10 |
|
|
zinc
finger protein 175 |
ZNF175 |
|
19 |
56789398 |
|
|
0.46 |
0.49 |
hCV2184223 |
ACAGCAGAAAATCTGAAAAAAAAGTCCATCCCATCTTTGC[A/G]CTGACAGCAGTGCACAGCAGCTGGCAGAGAATTCTGGCAC |
A |
G |
C__11709340_10 |
|
|
sialic
acid binding Ig-like lectin 5 |
SIGLEC5 |
|
19 |
56801754 |
0.32 |
0.42 |
0.13 |
0.07 |
hCV11709340 |
TGCATATTTCTCCAAGCTGTACCCCAAAATGATGACGAAG[A/G]ACCTTCTGTGAAGTCACATTTCCTGCAATCCTCTTGTCCC |
A |
A |
C___2184250_10 |
|
|
sialic
acid binding Ig-like lectin 5 |
SIGLEC5 |
|
19 |
56802196 |
0.42 |
0.12 |
0.13 |
0.15 |
hCV2184250 |
TGGAACTCGGAGATCTCTCTCAGAGCAGAAGAGTGTAGGA[A/G]CCCTGAAACTGAATCTTCTGCCCCTCCACCCATCACACAA |
A |
A |
C__11465088_10 |
rs1868950 |
|
sialic
acid binding Ig-like lectin 5 |
SIGLEC5 |
Intron |
19 |
56816138 |
|
|
0.03 |
0.07 |
hCV11465088 |
AATTTCTATATACTAGTTATTTGAACTAATAAGGGAGCTT[A/G]GCAAGTTGGAAGGAAATGAAATCAATTAAAAATGAGTTTT |
G |
G |
C__25628562_10 |
rs2278831 |
|
sialic
acid binding Ig-like lectin 5 |
SIGLEC5 |
Mis-sense
Mutation |
19 |
56822931 |
0.08 |
0.05 |
0.09 |
0.14 |
hCV25628562 |
ACACTCACAGTAAACTGAGAGATTCAGAAAAATTTGCAGG[A/G]AGCCCAGCGGGTGCTGAGCGCGGCAGGTGAAGCCTCCTTC |
#N/A |
#N/A |
C__15977172_10 |
rs2305372 |
|
sialic
acid binding Ig-like lectin 5 |
SIGLEC5 |
Silent
Mutation |
19 |
56824137 |
|
|
0.48 |
0.5 |
hCV15977172 |
TCCTACCTATGCCGTTCCTGAAGATGGTGATGGTCTGTGG[A/T]GCATCTGGGATAAAAAGATATAAACTTGGCTTCAGCAGTG |
A |
A |
C___2184427_10 |
|
|
hyaluronan
synthase 1 |
HAS1 |
Silent
Mutation |
19 |
56912163 |
0.06 |
0.14 |
0.4 |
0.45 |
hCV2184427 |
GGAAGCTGACCCAGGAGTCCAGAGGGTTAAGGATCCGCAC[A/G]TCCCCACCAACAGCCCCTACCCGGGGGTCCTCGTCCAGTA |
A |
A |
C___2184444_10 |
|
|
hyaluronan
synthase 1 |
HAS1 |
|
19 |
56923788 |
|
|
0.31 |
0.24 |
hCV2184444 |
AACCTGAAGAGATCCTTGTTTTATTAAATGCTTGAATCCC[G/A]GTAGATGGTTTCTTTGCCAGGTGTCCTGGATTGGGAAGGG |
A |
A |
C___3266374_1_ |
rs867228 |
IMS-JST005728 |
formyl
peptide receptor 1 |
FPR1 |
Mis-sense
Mutation |
19 |
56941023 |
0.18 |
0.17 |
0.24 |
0.27 |
hCV3266374 |
CGAAAGTGTCCCCCAGCTCCCTCCTCACTTTGCCTGTAAC[G/T]CCACCTCTGCAGAAGGTAAAGTAGAATTGGTAGCTGTGTC |
T |
T |
C___3266375_1_ |
rs1042229 |
IMS-JST005727 |
formyl
peptide receptor 1 |
FPR1 |
Mis-sense
Mutation |
19 |
56941484 |
0.45 |
0.49 |
0.49 |
0.36 |
hCV3266375 |
ACCGGATGATGCCTCTCACCGTCAACATGGCAACGGCCAC[A/C]TTTATCCTCTCTTTAGGGTCGTTGGTCCAGGGCGAAAAGT |
C |
C |
C___3266377_1_ |
rs2070745 |
IMS-JST005725 |
formyl
peptide receptor 1 |
FPR1 |
Mis-sense
Mutation |
19 |
56941759 |
0.3 |
0.32 |
0.5 |
0.44 |
hCV3266377 |
AAGACACTTCCGAACAAGTTGATGTCCACTATGGTAAAGA[C/G]GAATTTGCACAGGAACCAGCCGAAAGGCCAATGTCCTCCC |
C |
C |
C____329922_10 |
|
|
|
|
|
19 |
57051417 |
0.33 |
0.49 |
0.24 |
0.3 |
hCV329922 |
TTACTGTTTATCAATATATAATACTGCACCAATTTAATAA[T/C]TGTGCTAATGAACTGTTAAAAATTCGAATATGTCCCCAGA |
C |
C |
C___7806686_10 |
|
|
zinc
finger protein 577|hypothetical protein MGC4400 |
ZNF577|MGC4400 |
|
19 |
57065800 |
0.02 |
0.29 |
0.07 |
0.02 |
hCV7806686 |
AGCTCTTCTCCAATAATCCAATTCATGAATTTGGGCCACC[T/A]TGAATTCCTCAAACCCTAAACTCTGTCTCAATTCAGAGAG |
A |
A |
C___8706599_10 |
|
|
zinc
finger protein 577|hypothetical protein MGC4400 |
ZNF577|MGC4400 |
Intron |
19 |
57071458 |
0.02 |
0.43 |
0.07 |
0.02 |
hCV8706599 |
CGTTAGTAGCAGACATGCTACTTTGCGAGTCTCCAGCAGG[G/A]GCCAGAGAGCTCAGGCCCTGAGAGTGAATTAAACTTCTAC |
A |
A |
C___7806738_10 |
|
|
hypothetical
protein FLJ12644|zinc finger protein 577|hypothetical protein MGC4400 |
FLJ12644|ZNF577|MGC4400 |
Intron |
19 |
57089627 |
0.17 |
0.24 |
0.27 |
0.3 |
hCV7806738 |
CTAGCTATGTCTCTTGCATAAGATATTTTATCAGTCTGTC[A/T]TTCTCCATCTTGTCTAGACCACTGTAGGTTACATTTCTTC |
A |
A |
C___7806746_1_ |
rs1549931 |
IMS-JST040236 |
hypothetical
protein FLJ12644 |
FLJ12644 |
UTR
5 |
19 |
57095328 |
0.49 |
0.18 |
0.25 |
0.24 |
hCV7806746 |
AATGATGACATCCACATCCAGGAACCTCCTCCTTCCTTCA[C/T]TTGAACTCTCTTGCTTCTGGGGAGCCAGGACCTATGGAGT |
T |
T |
C___1129593_10 |
|
|
hypothetical
protein FLJ13590 |
FLJ13590 |
UTR
5 |
19 |
57122551 |
0.49 |
0.19 |
0.3 |
0.3 |
hCV1129593 |
TAGGCCGGCTTGGAGGCTGGGGGAGGGCCCAGAAGTGGAA[T/G]AATTCAGGAAAGTGCAGGTTCTGGGAAGTCTCGGTGGGTT |
T |
T |
C___7806806_10 |
rs919779 |
|
hypothetical
protein FLJ13590 |
FLJ13590 |
Intron |
19 |
57130159 |
0.36 |
0.5 |
0.23 |
0.26 |
hCV7806806 |
GAGCTTGTCACAATGATTCCACCCAGGTGGAAGGAAAGCT[T/C]AGGGTGACTCCATCCAGTTGATGCTCTCACCATGTGAGCC |
C |
C |
C___7806939_1_ |
rs2278416 |
IMS-JST025698 |
zinc
finger protein 350|zinc-finger protein ZBRK1 |
ZNF350|ZBRK1 |
Intron |
19 |
57163376 |
0.21 |
0.33 |
0.19 |
0.23 |
hCV7806939 |
TCGTAACAAGAGAGGTGGAACAACATGAAGAAGGGAAATA[C/T]TTGAAACCCGAGGAAGAAGAAAATTATGCAGGCAAACAAA |
T |
T |
C___7806946_1_ |
rs2278417 |
IMS-JST025699 |
zinc
finger protein 350|zinc-finger protein ZBRK1 |
ZNF350|ZBRK1 |
Intron |
19 |
57163581 |
0.36 |
0.48 |
0.28 |
0.28 |
hCV7806946 |
GGAACTGTTTACATATCCTCAAACCCCCTTCACAGCTGTG[C/T]TGCCTTCTCTGACTGTCTAGAATGTGACTTCCATAGCCTT |
T |
T |
C___1597642_10 |
|
|
FLJ21941
protein|zinc finger protein 350|zinc finger protein 432|zinc-finger protein
ZBRK1 |
FLJ21941|ZNF350|ZNF432|ZBRK1 |
Intron |
19 |
57189755 |
0.36 |
0.44 |
0.37 |
0.38 |
hCV1597642 |
ACTTAAATTTGATTTTAAAGGTTTTTCATGTAAGTCAAAC[A/G]TATCACAATCTTGCTTCAGCAGGAAATGACCTTTGTTCTG |
A |
A |
C___8706642_1_ |
rs1433089 |
IMS-JST040264 |
FLJ21941
protein|zinc finger protein 432 |
FLJ21941|ZNF432 |
Intron |
19 |
57198797 |
0.2 |
0.09 |
0.3 |
0.37 |
hCV8706642 |
GTCACCTGGGCCTGCATCATTGTCTCCTAAATTTGGGAAA[T/C]GACTGCTAACTTGGACGTTCTGTATTTGTCTCTTCTGAAT |
C |
C |
C___7807043_10 |
|
|
FLJ21941
protein|zinc finger protein 432 |
FLJ21941|ZNF432 |
Intron |
19 |
57201061 |
0.4 |
0.47 |
0.47 |
0.5 |
hCV7807043 |
CAGATCGAGTCAGTATTAAGAGCAGAACCTTTCTTGGGAA[C/T]AATTTAACATTCTATTGAAAATTGCCAATAAAGGTATACC |
T |
C |
C___1129591_10 |
|
|
FLJ21941
protein|zinc finger protein 432 |
FLJ21941|ZNF432 |
Intron |
19 |
57225117 |
0.44 |
0.38 |
0.43 |
0.5 |
hCV1129591 |
GATGGGACCTTCACTGATCATTTCCAGGAGTGGGCTGATA[C/A]AACTTTGCCGTGGCAGGCTGTGCTGATTCACGGGACAAGG |
C |
A |
C__25772260_10 |
|
|
FLJ21941
protein|zinc finger protein 432 |
FLJ21941|ZNF432 |
Silent
Mutation |
19 |
57230240 |
0.17 |
0.16 |
0.14 |
0.1 |
hCV25772260 |
TTACAGAGAATTTAGCTGCAGAATAAAGTTCTTCATAGTT[G/A]CCATGAAGAAATGATTTCCCATCTCCACTAAATTTAGTAG |
G |
G |
C___1129587_10 |
|
|
FLJ21941
protein|zinc finger protein 432 |
FLJ21941|ZNF432 |
|
19 |
57269160 |
|
|
0.41 |
0.5 |
hCV1129587 |
CAGGTGAAACAGAAGTAAAAGGAATAACTGATACTATCAA[C/T]ACAACATTATGGAGTTTCTGTAAGTTTTAGGGAAACTGCT |
C |
C |
C___8706643_10 |
rs1560690 |
|
FLJ21941
protein|zinc finger protein 432 |
FLJ21941|ZNF432 |
|
19 |
57270159 |
0.38 |
0.27 |
0.41 |
0.5 |
hCV8706643 |
CTTCAAAAATTTTCTCTTACCCAGTAAACTCACTCCATAC[A/G]ATAGTCCACAAGATATTCATAACCCCAAGATGGGTTATCA |
G |
A |
C___2931540_10 |
|
|
|
|
|
19 |
57352091 |
0.4 |
0.45 |
0.33 |
0.45 |
hCV2931540 |
GACTTGAAGACACTCTAAAGGCTTTGCCACACCCTTTACA[C/T]ATATAAGGTTTTTCCCTAATGTGTGTTTTCTCAAGTTGGG |
C |
C |
C__11524586_10 |
|
|
|
|
|
19 |
57369983 |
0.13 |
0.04 |
0.23 |
0.22 |
hCV11524586 |
TGTGACATTCTATGGATGGATTCTTCTCCCTGAGACCAGA[A/G]CTTCATCTTTTGCATATGATCAGAGGCTTTTAGAGGCTCT |
G |
G |
C___8706654_10 |
rs1465556 |
|
|
|
|
19 |
57370875 |
0.43 |
0.39 |
0.42 |
0.26 |
hCV8706654 |
TATGCCACGTGGAGTCCAGTTTGAGTTCAGCCATAGGCAC[C/T]GAGTGTCCTCCCACAAAGAAATGGCTCTCTATTATTTGAA |
C |
C |
C__11973220_10 |
rs2059809 |
|
|
|
|
19 |
57374378 |
0.33 |
0.28 |
0.43 |
0.25 |
hCV11973220 |
TGCTCTTGCATTGGGGGCTTGAAGCTCTTCCCTTCTACCT[A/G]TGCAGCCCCTTACCCTGCTGTCCTGCTCTTCTCTGTCCTG |
A |
A |
C___2931495_10 |
rs1006111 |
|
protein
phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform |
PPP2R1A |
Intron |
19 |
57409044 |
0.4 |
0.37 |
0.31 |
0.22 |
hCV2931495 |
TGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGC[C/T]AGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGA |
C |
C |
C___2931494_10 |
|
|
protein
phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform |
PPP2R1A |
Intron |
19 |
57409412 |
0.27 |
0.22 |
0.13 |
0.14 |
hCV2931494 |
CCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACT[A/G]GCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACC |
A |
A |
C___2931487_10 |
|
|
protein
phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform |
PPP2R1A |
|
19 |
57423384 |
0.08 |
0.08 |
0.08 |
0.01 |
hCV2931487 |
TATGAGAGACGAGGGTGAAGGATAGCTTGAGTTATTGAAC[G/A]CTGGCAGAGTCCTGAGTTAACCAGGAGTTGCCTGGTGTCT |
A |
A |
C__11973210_10 |
rs2059808 |
|
|
|
|
19 |
57442865 |
0 |
0.23 |
0.07 |
0.01 |
hCV11973210 |
ACACCACTCCCTAAGCACTTGGGGGTTACAGGATGCAGTG[C/T]GTTTAAAGGGCTCTGCTGGGTTTCAGTGTAGCATGAGACA |
C |
C |
C___2931479_10 |
|
|
|
|
|
19 |
57460244 |
0.31 |
0.4 |
0.18 |
0.01 |
hCV2931479 |
CTACAACAGTATAATTCTGTTGTTTCTATTTGCAGGAGTG[G/T]AACTCTTGAGATTTTGGTTTACATCTCTTCCAGTATTTAA |
G |
G |
C__15919512_10 |
rs2657928 |
|
|
|
|
19 |
57464890 |
0.33 |
0.47 |
0.26 |
0.02 |
hCV15919512 |
CCTAGGGCTGGTTCTGTCTCCGGTCGTTCTGCCGTAGGGC[T/C]GCGTAGGCAGCTGCTTTCGCGCCGTTTTCCTGCTTAAAAC |
C |
C |
C__16259161_10 |
rs2560904 |
|
|
|
|
19 |
57477757 |
0.36 |
0.5 |
0.2 |
0.21 |
hCV16259161 |
CTGTTGACTCAGAAATGAAAAGCTCCCGTATGCTTTCTGG[A/T]CTTGAAATTCCCCCTTTCTTCAGACATTCTGTATCCTTCA |
A |
A |
C___2931441_10 |
|
|
hypothetical
protein MGC32104 |
MGC32104 |
Intron |
19 |
57507615 |
0.43 |
0.45 |
0.33 |
0.41 |
hCV2931441 |
CTTTTTTCTTAGGTAATTGTCAATTTACTTTTGATGCTGA[G/T]CTGTTCATTGTTTGATTCTTTTGGTTTGGTTCTAATGCCC |
G |
G |
C___2421191_10 |
rs321932 |
|
hypothetical
protein FLJ36040|hypothetical protein MGC32104 |
FLJ36040|MGC32104 |
|
19 |
57524954 |
|
|
0.39 |
0.39 |
hCV2421191 |
TTTGTATAGACGGGAGGACCAAGTGCTCCAGATTATTTCA[G/A]CAACTCATTGGGATGTAGCTCTGGACTAGTTTAAAATTTT |
A |
A |
C___2931400_10 |
rs2560979 |
|
hypothetical
protein FLJ36040 |
FLJ36040 |
Intron |
19 |
57550451 |
0.35 |
0.48 |
0.48 |
0.36 |
hCV2931400 |
CATCTGGGCCCTGGAAACTACAGGTGCCTCCAGCCCCCTC[G/T]GCCTGTTCAGGTCTATTTGGATGGGAAGAAGCCAGTGATT |
G |
G |
C__11713899_10 |
rs3170100 |
|
zinc
finger protein 528|KIAA1827 protein |
ZNF528|KIAA1827 |
|
19 |
57580432 |
0.36 |
0.37 |
0.38 |
0.18 |
hCV11713899 |
AAGATCTTTAGTAATAATTCACACCTTGCACAGCATGAGA[G/T]AATTCATTCATGAGAGAGTTCTTACAAACTGAGTATGGCA |
G |
G |
C__11467342_10 |
rs2059816 |
|
zinc
finger protein 528|KIAA1827 protein |
ZNF528|KIAA1827 |
|
19 |
57613718 |
0.1 |
0.22 |
0.22 |
0.41 |
hCV11467342 |
CTGTGCTCTGCCCTAGAATGCTTCTGTGGGTACAGTGAAA[G/A]TCCCAAAGCAGTGCAACTCCAGCATCCTATACCCTCAAAT |
G |
G |
C___3066827_10 |
rs2560996 |
|
zinc
finger protein 534|hypothetical protein FLJ25344 |
ZNF534|FLJ25344 |
Intron |
19 |
57628912 |
0.33 |
0.36 |
0.29 |
0.36 |
hCV3066827 |
AGACACATAACTAGCTCAAGAATCCTTTAATGTGGATTTG[T/G]CGCAGTGCTCGCTTCAGTGGAGTGAGTCCTTACAACTGTC |
T |
T |
C__11467355_10 |
rs1896643 |
|
zinc
finger protein 534|hypothetical protein FLJ25344 |
ZNF534|FLJ25344 |
Intron |
19 |
57636905 |
0.06 |
0.18 |
0.36 |
0.34 |
hCV11467355 |
AAATCACCACATAATGGAGAGAAACCTTACAAATGCAACA[T/C]ATGTGGTAAAATGTTTTAGTCACAATTCACACCTTGGACA |
T |
T |
C__11467356_10 |
rs1896644 |
|
zinc
finger protein 534|hypothetical protein FLJ25344 |
ZNF534|FLJ25344 |
Intron |
19 |
57636982 |
0.06 |
0.07 |
0.36 |
0.33 |
hCV11467356 |
GACAGCATCAGATAATTTATTCATGAAAGAGTCCTTACAA[A/G]CTGTGTACGGAAAGCTCGTCATGAGTTTTAGCATTAATGA |
G |
G |
C___8706945_10 |
rs1457858 |
|
|
|
|
19 |
57668492 |
0.06 |
0.15 |
0.38 |
0.33 |
hCV8706945 |
TCATTATATTTGTAAGGTTTCTCTCCAGAATGGACTCTGT[A/G]ATAACTTGTAAGGTGGAACTTTTGTCTAAAAACCTAGTCT |
A |
A |
C____804578_10 |
rs36680 |
|
|
|
|
19 |
57687916 |
0.07 |
0.14 |
0.14 |
0.09 |
hCV804578 |
GCGCGCGCAAACCAGGTGGCGTATCGCTTGGAGTGAAGGT[T/C]CTACCGCGGCATGTGAGTTTCGCTCTGTGTTGTGTTAAGT |
T |
T |
C___3098516_10 |
rs619872 |
|
zinc
finger protein 83 (HPF1) |
ZNF83 |
|
19 |
57844212 |
0.47 |
0.33 |
0.31 |
0.26 |
hCV3098516 |
TCTTCAGCACTCGAGGCTGACACAGGTGAGTGGTTTTTTT[G/C]TCTTCCTGCTTCAAACCTGGCTTTCGCAGCACCCCAGCAC |
G |
G |
C___3098506_10 |
rs546139 |
|
zinc
finger protein 83 (HPF1) |
ZNF83 |
|
19 |
57847014 |
0.47 |
0.32 |
0.31 |
0.24 |
hCV3098506 |
TTGAACTCAATGTTAAGTCAACTCAAACTCTAGTCAATGC[A/G]GAATTGACTCTAATGTCAATTAAAGTTTGTCATTTTCTAT |
A |
A |
C___1999509_10 |
|
|
|
|
|
19 |
57990279 |
0.16 |
0.39 |
0.1 |
0.14 |
hCV1999509 |
GAAGGGAACATTTACTTAAAAGCTCACAGCTCACTATTTA[G/C]TCAGATGACATAAAGAAAATGGAATAATAGGCTACATGAA |
G |
G |
C___2940892_10 |
rs1966574 |
|
|
|
|
19 |
58059204 |
0.48 |
0.34 |
0.39 |
0.34 |
hCV2940892 |
CCAGGCGTTTCCACTCCAGCAAAGAGAACTCTATAGCCAC[A/G]TCTCTGAAAGTCAAGTATCCCTAAAATGAGAAACACGTTT |
G |
G |
C___2940908_10 |
|
|
|
|
|
19 |
58066719 |
0.15 |
0.14 |
0.22 |
0.31 |
hCV2940908 |
AATTACTCACTCCCAGAAAATCACAGAAATATGTTCAAAA[T/C]GTACACATTGTGAACACATAGCTGCAGGTGTTTAAAACAC |
C |
C |
C___2940909_10 |
|
|
|
|
|
19 |
58066796 |
0.15 |
0.15 |
0.22 |
0.31 |
hCV2940909 |
ACACTGAAAAATTGTGCACACATAGCTCTAGGTGCTTAAA[G/A]CACTGAAAAAGAGGCAGCTGTAGCAATGAGATCTGAGCAA |
G |
G |
C___2932282_10 |
rs1650930 |
|
hypothetical
protein FLJ32214|hypothetical protein FLJ14345 |
FLJ32214|FLJ14345 |
|
19 |
58206139 |
0.17 |
0.29 |
0.43 |
0.31 |
hCV2932282 |
GTTAAAAGACCAATTAATCTTTTCCCATGAGTTCCTGATA[C/A]TGTCTGAATGTCCCATACGTCTTTAGGGCAGGGATATACT |
C |
A |
C___2932301_1_ |
rs2288421 |
|
zinc
finger protein 160|KRAB zinc finger protein KR18|hypothetical protein
FLJ14345 |
ZNF160|KR18|FLJ14345 |
UTR
3 |
19 |
58263118 |
|
|
0.27 |
0.33 |
hCV2932301 |
TTCTGTCAAGAATGAAATTAACTGATGTGAAAGGAGTGAA[T/C]TGTACCTAATGACCTCACCACACTCATTTGTAAGGTTTCT |
T |
T |
C___2932305_10 |
rs329733 |
|
zinc
finger protein 160|KRAB zinc finger protein KR18|hypothetical protein
FLJ14345 |
ZNF160|KR18|FLJ14345 |
Intron |
19 |
58268401 |
0.37 |
0.36 |
0.43 |
0.45 |
hCV2932305 |
GGATTTTGTTAGGTGTCTTTACGGTTATGCTGAGAACAAT[C/G]TTAGAAGATAGAACCCACTCGCTTATCACACACCCCCATG |
C |
G |
C___2932368_1_ |
rs1045764 |
|
zinc
finger protein 160|zinc finger protein 415|KRAB zinc finger protein
KR18|hypothetical protein FLJ11191|hypothetical protein FLJ14345 |
ZNF160|ZNF415|KR18|FLJ11191|FLJ14345 |
UTR
3 |
19 |
58303285 |
|
|
0.47 |
0.45 |
hCV2932368 |
CAATGAATGCTTGAACTTGTGATGAAGGGTTTGCTGTACT[C/T]GTAAGGATTCTCTCAAGAATGAAATTCTCTGATGCTGTGT |
C |
C |
C___8718291_10 |
rs1054484 |
|
zinc
finger protein 160|zinc finger protein 415|KRAB zinc finger protein
KR18|hypothetical protein FLJ11191|hypothetical protein FLJ14345 |
ZNF160|ZNF415|KR18|FLJ11191|FLJ14345 |
Silent
Mutation |
19 |
58304801 |
0.23 |
0.05 |
0.29 |
0.3 |
hCV8718291 |
TTTCTTTTGGGGCCGTAGTCACTTTGTTGCAATTTCTTTC[A/G]TCATCTCTCCACTGACAGTCAAAGTCGTGTATTTTTTTCT |
G |
G |
C___2932378_1_ |
rs3745180 |
|
zinc
finger protein 415|hypothetical protein FLJ11191|hypothetical protein
FLJ14345 |
ZNF415|FLJ11191|FLJ14345 |
Intron |
19 |
58311203 |
|
|
0.28 |
0.28 |
hCV2932378 |
GCTCTGGAACCACCACTGTTGTATCATGAAGGGGTCAGAA[C/A]ATCTGGAAAAAGGGGATGGTTAAACTCCAGAGTTCACATT |
A |
A |
C__11708644_10 |
rs2042908 |
|
zinc
finger protein 415|hypothetical protein FLJ11191|hypothetical protein
FLJ14345 |
ZNF415|FLJ11191|FLJ14345 |
Intron |
19 |
58318325 |
|
|
0.44 |
0.41 |
hCV11708644 |
CCCAGCACTTTCATATGAAGCCAGGGGGTAGCTCTACTCA[C/A]ATGTGGTCAGCCCAGCATAGCCCCCACCTTCTGACTCTAT |
C |
C |
C___2932250_10 |
rs2195310 |
|
zinc
finger protein 347|zinc finger protein 415|hypothetical protein
FLJ11191|hypothetical protein FLJ14345 |
ZNF347|ZNF415|FLJ11191|FLJ14345 |
Mis-sense
Mutation |
19 |
58337103 |
0.32 |
0.44 |
0.3 |
0.16 |
hCV2932250 |
GCAAGGTGTGAATTTTGAGGAAAGACCATGCCACATCCAT[C/T]AGATTTGTAAGGGCTTCCCCAATTATTTGCTTTTTGCCCC |
T |
T |
C____440860_10 |
|
|
hypothetical
protein MGC48625|hypothetical protein MGC48625 |
MGC48625|MGC48625 |
UTR
3 |
19 |
58431770 |
0.4 |
0.18 |
0.29 |
0.19 |
hCV440860 |
ACATTGCTTAAAGGACTTGCCACATTTGTATGGTTTCCAT[T/C]CTGAATGTCTTCTGTTATAACCATAATAGGGTAAATATTT |
C |
C |
C__11509250_10 |
rs3097248 |
|
hypothetical
protein MGC48625|hypothetical protein MGC48625 |
MGC48625|MGC48625 |
Intron |
19 |
58435148 |
0.4 |
0.19 |
0.29 |
0.21 |
hCV11509250 |
CACCACTGCTCTCAGATAGCATTTAAGTCACCTTATCTTG[T/C]ACAAGTTGTTTAGACAGTGACCAGATCATGTTGCTGTCCT |
C |
C |
C___2939890_10 |
rs2914383 |
|
hypothetical
protein MGC48625|hypothetical protein MGC48625 |
MGC48625|MGC48625 |
Intron |
19 |
58437969 |
0.37 |
0.26 |
0.28 |
0.19 |
hCV2939890 |
AAAATGGTCAGAGGGGCCAAACAGTATTGTAGGTCATGAT[A/G]GCACCTTTGCTTTTGTGTCTGTATGAGTTGGGGCATCACG |
A |
A |
C___2939869_10 |
rs2965234 |
|
hypothetical
protein MGC48625|vomeronasal 1 receptor 2|hypothetical protein MGC48625 |
MGC48625|VN1R2|MGC48625 |
Intron |
19 |
58444531 |
0.38 |
0.14 |
0.23 |
0.17 |
hCV2939869 |
TCAGTAAGACAATGCTCCAATGAGAAAGTAAAAACTCAAG[C/T]TGTCTCTGTTTACCAGCAAAAAACCAAAACAAAGACATAC |
C |
C |
C___2939868_10 |
rs2965235 |
|
hypothetical
protein MGC48625|vomeronasal 1 receptor 2|hypothetical protein MGC48625 |
MGC48625|VN1R2|MGC48625 |
Intron |
19 |
58444684 |
0.36 |
0.13 |
0.24 |
0.17 |
hCV2939868 |
ATTATGATTTTTACGACTTCTCTTCCATTGAAAAGAATGA[T/A]CAGTAGTTCCTGATGGAGATAGTGGGTGATGGTGGACTGG |
T |
T |
C__11509288_10 |
rs1469440 |
|
hypothetical
protein MGC48625|vomeronasal 1 receptor 2|hypothetical protein MGC48625 |
MGC48625|VN1R2|MGC48625 |
|
19 |
58451333 |
0.34 |
0.33 |
0.41 |
0.42 |
hCV11509288 |
AAACCAAGGTCTATCCACTGTCTCTTTGGGTCTCTGTTTT[T/C]GTAACTGGGAATTACATCTGATAACAGGTGAAGGGTGAAA |
T |
T |
C___2939835_10 |
rs1978611 |
|
vomeronasal
1 receptor 2|vomeronasal 1 receptor 4 |
VN1R2|VN1R4 |
|
19 |
58460745 |
0.34 |
0.13 |
0.4 |
0.43 |
hCV2939835 |
CATCTTCACATGATAAAGAAAAAGAGTCTACCATCTACTC[A/G]TCTAGATCCTCAAATCTATGCAGTCTCACAGAGTGTGTGT |
A |
A |
C___7844071_10 |
|
|
baculoviral
IAP repeat-containing 8 |
BIRC8 |
|
19 |
58492194 |
|
|
0.32 |
0.35 |
hCV7844071 |
GGCTAGGTGCGGGGGAGGCTGAAAGTCCCCGGGGATAAGC[G/A]TGGGTCATGGGTGCACGCGTGGGCAGAAAAAGAAAGGCTC |
G |
G |
C___2939776_10 |
rs1428642 |
|
|
|
|
19 |
58504335 |
0.45 |
0.41 |
0.39 |
0.43 |
hCV2939776 |
TTTTTGCATATGCATGTAGGACACAGATACACAGGGCGGG[T/C]TTGGGGCGGGACCTCGTGCGGTGCAGGCGCTGTGGGAAGC |
C |
C |
C__15898585_10 |
rs2617652 |
|
hypothetical
protein BC001610 |
LOC91661 |
|
19 |
58583885 |
0.35 |
0.46 |
0.44 |
0.49 |
hCV15898585 |
GGAAGGACAACAGGAGAAGTGGTGGCCTCATTCCATACTA[A/G]TATTTGATTAAATAACCCATTCTATGTAATTTTAGCCAAT |
A |
A |
C___1878261_10 |
|
|
hypothetical
protein BC001610 |
LOC91661 |
Intron |
19 |
58614099 |
0.12 |
0.2 |
0.47 |
0.43 |
hCV1878261 |
AAAGCCACACAGGAAGGAGGAATAATTCCTGAGGCATGAG[C/T]TGAGCCAGGAAAGAGAGTTGGGGACTGTAGACCCTATACC |
T |
T |
C____917742_10 |
rs37403 |
|
zinc
finger protein 331|zinc finger protein 463 |
ZNF331|ZNF463 |
|
19 |
58706650 |
0.35 |
0.45 |
0.37 |
0.43 |
hCV917742 |
TGACTCAGTTTAGATATAAAAGAAAGAAAAATCAAACAAT[G/A]ACATGGTGGTTTTGCCATGATGTCATCAAGCGTAAAAAGA |
G |
G |
C___1878376_10 |
rs37396 |
|
zinc
finger protein 331|zinc finger protein 463 |
ZNF331|ZNF463 |
|
19 |
58712155 |
0.34 |
0.23 |
0.49 |
0.48 |
hCV1878376 |
ATTCCACAGGCACACGTGGTAGAGTAGGCTAAGATCATCA[T/C]GGACAGTAATGACTTGCAATGCCATTTGACAAATCCCCCA |
C |
T |
C__11710937_10 |
|
|
zinc
finger protein 331|zinc finger protein 463 |
ZNF331|ZNF463 |
Intron |
19 |
58734644 |
0.26 |
0.16 |
0.41 |
0.41 |
hCV11710937 |
CATATGAAGGTAACTGGGATGGGTGTTTGCAGGTTCACAA[A/C]ATGAACCACAGCCTCAAATGGCCTAGAACTGTTGTCCTTA |
A |
A |
C___7796186_10 |
|
|
zinc
finger protein 331|zinc finger protein 463 |
ZNF331|ZNF463 |
Intron |
19 |
58737635 |
0.23 |
0.09 |
0.09 |
0.15 |
hCV7796186 |
TATCTCCCTTATCCCGTGGAACACAAAATTCAGCCTCTTG[C/T]TAATGTTCTCAACTTGGCATCTTCTCAGATTAGAGTCATT |
T |
T |
C___7840704_1_ |
rs3746304 |
|
zinc
finger protein 331|zinc finger protein 463 |
ZNF331|ZNF463 |
Intron |
19 |
58764569 |
0.3 |
0.1 |
0.48 |
0.22 |
hCV7840704 |
TTTTATCTAGTCAAGCTCTTTATAATTACCTGTTTCCCAG[C/T]TCTTTCTATTCCAGTGAATGATAATGCCACGTAGCTCCGT |
C |
C |
C___7840692_10 |
|
|
zinc
finger protein 331|zinc finger protein 463 |
ZNF331|ZNF463 |
Intron |
19 |
58767245 |
0.33 |
0.45 |
0.14 |
0.12 |
hCV7840692 |
ATGTGTTTGAAGTACAGTAGATCAGACAAACAGAATTTGT[G/A]TAAAACCAAAGTGGGCGTATTTCATTTCTTACATACCATA |
A |
A |
C__11528643_10 |
|
|
zinc
finger protein 331|zinc finger protein 463 |
ZNF331|ZNF463 |
Mis-sense
Mutation |
19 |
58771956 |
0.31 |
0.12 |
0.48 |
0.22 |
hCV11528643 |
GGAGGTATGTCAATCAGATGATCATCAATTATGTCAAAAG[G/A]CCTGCTACTAGAGAAGGCACCCCTCCTAGAACACATCAGA |
A |
A |
C__11528663_10 |
|
|
|
|
|
19 |
58801969 |
0.46 |
0.36 |
0.43 |
0.38 |
hCV11528663 |
GTAGCCTTTAATGAAACCTGTGCCCAGCGGCAGCCCAAAC[A/T]GTGCCCAAACCCCCGATGAGACAGAATGACCGTGTTACCT |
T |
T |
C__11528667_10 |
|
|
|
|
|
19 |
58803352 |
|
|
0.1 |
0.22 |
hCV11528667 |
AAAATAAACCTGTGCCCTCACCTGTGGGTGTCGTTGGACC[A/C]CCCCAGCTCGGCCCATTTGTAGTCGGCGTCTGTGAGCTGC |
A |
A |
C___7797111_10 |
|
|
|
|
|
19 |
58872014 |
|
|
0.2 |
0.16 |
hCV7797111 |
TGCCAACAACCCTAGTGAGTTCTTTTGACTACAGCTGGAC[C/T]ATTTATCCTGTTTCCTGTGGGTAACGGTTCCAATGTACCA |
T |
T |
C__11465945_10 |
rs1808658 |
|
|
|
|
19 |
58927398 |
0.39 |
0.41 |
0.34 |
0.41 |
hCV11465945 |
GAGATGTACTTGAACAACAAATGATTTGCTGTTTAGATGT[A/G]AGCATCTTTTTTTGCTCCTGTTTTTAAACATAGGACAAGG |
G |
G |
C___1997392_10 |
|
|
|
|
|
19 |
58966787 |
0.11 |
0.06 |
0.2 |
0.2 |
hCV1997392 |
AAATGATCTATAAATGCATTTTTCCCCCCTGCTACCTACC[A/G]TAAATCGTAAAAAGGGAGTTAAAGCAAAGTTTCCTTGTTG |
A |
A |
C___1997401_10 |
|
|
NACHT,
leucine rich repeat and PYD containing 12|leucine-rich-repeat protein |
NALP12|RNO2 |
|
19 |
58980658 |
0.47 |
0.38 |
0.48 |
0.45 |
hCV1997401 |
AATGCTGTACATTTTCATTGATGAAGGAACTAGGTTTAAC[G/C]AGAAAGGTTGAGCACGTACTCCCGCAGCTGGCTAGGATTA |
C |
G |
C___1997452_10 |
|
|
NACHT,
leucine rich repeat and PYD containing 12|leucine-rich-repeat protein |
NALP12|RNO2 |
Mis-sense
Mutation |
19 |
58999134 |
0.44 |
0.25 |
0.33 |
0.49 |
hCV1997452 |
TTCCTGTCAGGTCCAACTCAACCAGATGTGGGTTGGTGCC[G/A]AGCACAGAAGCCATCTCCTGACAAGCCCCGGACTCCAGCT |
G |
A |
C____516715_10 |
|
|
NACHT,
leucine rich repeat and PYD containing 12|leucine-rich-repeat protein |
NALP12|RNO2 |
|
19 |
59023853 |
0.48 |
0.48 |
0.43 |
0.36 |
hCV516715 |
ATTCCGGAAGAGACCTGTTTCCTTTGAGGGAATACTTTGA[G/A]AAGTCACTTGAGTATGAAATCTGTTAACTGGAGAAATTTT |
A |
A |
C____516716_10 |
|
|
NACHT,
leucine rich repeat and PYD containing 12|leucine-rich-repeat protein |
NALP12|RNO2 |
|
19 |
59023873 |
0.48 |
0.48 |
0.43 |
0.36 |
hCV516716 |
CCTTTGAGGGAATACTTTGAGAAGTCACTTGAGTATGAAA[T/C]CTGTTAACTGGAGAAATTTTGCAGTATGGTGTTTGCTTGT |
C |
C |
C__22273625_10 |
rs3745406 |
|
protein
kinase C, gamma |
PRKCG |
Silent
Mutation |
19 |
59086777 |
0.42 |
0.24 |
0.36 |
0.24 |
hCV22273625 |
TAGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAA[C/T]GGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAG |
C |
C |
C__22274080_10 |
rs3745405 |
|
protein
kinase C, gamma |
PRKCG |
Intron |
19 |
59086910 |
|
|
0.36 |
0.24 |
hCV22274080 |
|
#N/A |
#N/A |
C__11711373_10 |
|
|
calcium
channel, voltage-dependent, gamma subunit 7 |
CACNG7 |
Intron |
19 |
59122491 |
0.31 |
0.49 |
0.12 |
0.07 |
hCV11711373 |
TAGGGTGCTCTGGAGAGGGTGAGAGAGACCAGGGAGGGCT[T/C]CCAGGAAAAGGTGACAGCTAAGTTGATGCCGAAAGGGTCA |
T |
T |
C___1898481_10 |
|
|
calcium
channel, voltage-dependent, gamma subunit 8 |
CACNG8 |
Intron |
19 |
59172962 |
0.31 |
0.03 |
0.44 |
0.4 |
hCV1898481 |
AGCTTACAGGACCAAGGTCCTGTAGCCTTGCAGTGAGTGC[T/C]GCAAGGATGTTAGACTTTGGGTTTTTTTCCTTGCTTTTCT |
T |
T |
C___1898491_10 |
rs2042177 |
|
calcium
channel, voltage-dependent, gamma subunit 6|calcium channel,
voltage-dependent, gamma subunit 8 |
CACNG6|CACNG8 |
|
19 |
59179192 |
0.36 |
0.3 |
0.17 |
0.13 |
hCV1898491 |
GTGGGAGGAAGCACGTAATTACACAGATGCTGAAGCATAG[T/A]CATGGTGTCTGGTGTGCAGGAGAAAGCCGTGGGGCTTAGA |
T |
T |
C___3112101_10 |
|
|
calcium
channel, voltage-dependent, gamma subunit 6|calcium channel,
voltage-dependent, gamma subunit 8 |
CACNG6|CACNG8 |
|
19 |
59184785 |
0.38 |
0.31 |
0.49 |
0.44 |
hCV3112101 |
CCCCTAGCTGGGGCGGGGATGTCTGTGTGCCATCATCTCA[T/C]TCCATCTGGTCATTCCTTTGCCCATTCATCCATCCATTCA |
C |
C |
C___7838804_10 |
rs922515 |
|
calcium
channel, voltage-dependent, gamma subunit 6 |
CACNG6 |
Intron |
19 |
59197760 |
0.01 |
0.47 |
0.25 |
0.4 |
hCV7838804 |
TTGAACTCACACCTGCATTACTCCTGGGGGTGCACAGGAA[A/G]CTGTTGATATAAAAGTGTTTTATGAAAGTCTTGAGCACAA |
G |
G |
C__11527698_1_ |
rs459247 |
|
calcium
channel, voltage-dependent, gamma subunit 6 |
CACNG6 |
UTR
3 |
19 |
59207686 |
|
|
0.5 |
0.48 |
hCV11527698 |
TCTGCAGCTCCGGGTGCGGTTGGGGGAGATAGCGAAGGGT[C/T]TGGCCTCGCTGTGATCTGATTTGGGATTAAAGGTTTGGAA |
C |
T |
C__11975019_10 |
rs628604 |
|
|
|
|
19 |
59223436 |
0.44 |
0.39 |
0.17 |
0.31 |
hCV11975019 |
TGAATTCCTACCATCCATTCTCCTTCCAAACTGCTCATAC[C/G]CAGTATTCCCAAGGTTTTTGCACATGTATATAACAGAATG |
C |
C |
C___3112147_10 |
|
|
|
|
|
19 |
59226281 |
0.07 |
0.11 |
0.16 |
0.07 |
hCV3112147 |
CACGATTCTAAGCCTCTTCCCGTAGCATGTCCCATGTGGA[A/G]GAGAAAAGTTAAGAAAATGAAACTGGCCAAAACTTGCTAC |
G |
G |
C___2916381_1_ |
rs1035829 |
IMS-JST060265 |
LAIR
hlog |
UNQ3033 |
UTR
3 |
19 |
59235989 |
0.33 |
0.22 |
0.22 |
0.31 |
hCV2916381 |
AGTATCTGCATCTCCAGATTTCCGATAACCTTGGCCAGCA[C/T]GATCCCCCCTCCTTTAGTGGCCAGGGCTGTCTTCTTGCTA |
T |
T |
C___2916416_10 |
rs662850 |
|
|
|
|
19 |
59258713 |
0.5 |
0.41 |
0.48 |
0.37 |
hCV2916416 |
GCCCAGACCCACCCACCGCAGGTGTGCAACACCTGGAAGT[C/T]ATTACTTCCACACACCGCATTTCCACCTGGACTGCCACTC |
C |
T |
C___2916417_10 |
rs612529 |
|
|
|
|
19 |
59259065 |
0.2 |
0.49 |
0.48 |
0.33 |
hCV2916417 |
ACTCAGGAAACAAGAAGCCGTCGATGATAACTTCTTCCCC[A/G]TGAATCCGGTGTGTGTGGCCCCACCCGCCCGAGCTCTGTC |
G |
G |
C___2916423_10 |
|
|
|
|
|
19 |
59264043 |
0.28 |
0.28 |
0.12 |
0.07 |
hCV2916423 |
GAGATAACCATTGTCACAATGAGTGAAATTTCTTCCTCGG[C/T]ACACAATTAATTACTTAGTTAGTAGGAAAGTTCCCAGAAG |
T |
T |
C___2916227_10 |
|
|
|
|
|
19 |
59271175 |
0.29 |
0.38 |
0.33 |
0.29 |
hCV2916227 |
TGGCTTCTGCTCGACTTCCAGCTCCTCCATCCTTTCCCAG[A/C]GATTCTCCTTGACCATCCTGTGTGGCTGTCACCTCCCCCT |
A |
A |
C___2414374_10 |
rs254254 |
|
osteoclast-associated
receptor |
OSCAR |
|
19 |
59285915 |
|
|
0.27 |
0.37 |
hCV2414374 |
AAATAATAATTGTGTGAGCCCTTTTCTCTCTGTCCTCTCC[A/T]CTTTCTTGGGGCTCAGAACCAGAAATTAAAGCTACATGTT |
T |
T |
C___8716885_10 |
rs1657535 |
|
NADH
dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa|osteoclast-associated
receptor |
NDUFA3|OSCAR |
Mis-sense
Mutation |
19 |
59292044 |
0.03 |
0.06 |
0.26 |
0.44 |
hCV8716885 |
ACCCGGCCCCCAGTCTGGCCTTCGGTAGCAGCAGCGGTAA[A/C]TTCCCCCTTGGGCTGGAGTCACCTCCTCCAGAAAGAATTC |
A |
A |
C___2916248_10 |
rs3760698 |
|
NADH
dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa|TCF3 (E2A) fusion
partner (in childhood Leukemia)|osteoclast-associated receptor |
NDUFA3|TFPT|OSCAR |
UTR
5 |
19 |
59296006 |
0.47 |
0.1 |
0.49 |
0.45 |
hCV2916248 |
AACATCAGAAAACCAGACCCAGATCCTCATTTACGGAAGA[C/G]AGTATCGAGGTGGGGGCCTGTGGGTGACTGTGTCATAGCC |
C |
C |
C___2414383_10 |
rs254260 |
|
NADH
dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa|TCF3 (E2A) fusion
partner (in childhood Leukemia)|osteoclast-associated receptor |
NDUFA3|TFPT|OSCAR |
Intron |
19 |
59298021 |
|
|
0.37 |
0.31 |
hCV2414383 |
GCCGCCGCGGAGACAAAGATGGCTGCGAGTAAGTGCAGGT[T/G]CCGGTGGCGCACGGGGCTCGGGTAGTTCTGGGAACCTCTG |
#N/A |
#N/A |
C___2414386_1_ |
rs254257 |
IMS-JST061541 |
NADH
dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa|TCF3 (E2A) fusion
partner (in childhood Leukemia)|osteoclast-associated receptor |
NDUFA3|TFPT|OSCAR |
Intron |
19 |
59300839 |
0.45 |
0.49 |
0.48 |
0.47 |
hCV2414386 |
GCCTCCTCCAGGCCCCACGTATCTGTGAGTGTTAGGCTCC[A/G]ACCCCTACCTCCACTTAACCCCCCAAAAAAGAGTTTTAAA |
G |
G |
C___2414416_10 |
rs40168 |
|
CCR4-NOT
transcription complex, subunit 3|PRP31 pre-mRNA processing factor 31 homolog
(yeast) |
CNOT3|PRPF31 |
|
19 |
59333200 |
|
|
0.29 |
0.13 |
hCV2414416 |
ACCAATAGAAAGCCTCCAAGGGTCAGGAGCGACGTTCAGC[A/G]GGAGCAATGACTGGCCTATATTCGGGACTCGGGGGCGGGT |
G |
G |
C___8716859_1_ |
rs36633 |
IMS-JST025819 |
CCR4-NOT
transcription complex, subunit 3 |
CNOT3 |
UTR
5 |
19 |
59338102 |
0.5 |
0.42 |
0.16 |
0.26 |
hCV8716859 |
TAGCCACCTCTGCCCAGCCCCTCTGAGTAGGAAGTGTGAT[T/C]TCCAGGGCTAATGCCTCCATCCCAGTCATCAGCTGTGTGC |
C |
C |
C__11509346_1_ |
rs2241790 |
|
CCR4-NOT
transcription complex, subunit 3|leukocyte receptor cluster (LRC) member
1|transmembrane channel-like 4|hypothetical protein MGC39329 |
CNOT3|LENG1|TMC4|MGC39329 |
Intron |
19 |
59347459 |
|
|
0.39 |
0.3 |
hCV11509346 |
GAGCGTGTACTATTGGCACATCCTTTGACAAAAATGGTAG[C/T]GCACTGTACATATTCTGCAGGTTGGCGTTTACTTCTGTAG |
T |
T |
C___2414432_1_ |
rs40167 |
IMS-JST025817 |
leukocyte
receptor cluster (LRC) member 4|transmembrane channel-like 4|hypothetical
protein MGC39329 |
LENG4|TMC4|MGC39329 |
Intron |
19 |
59374787 |
0.19 |
0.22 |
0.45 |
0.45 |
hCV2414432 |
AGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAA[G/A]CTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCT |
G |
A |
C___8716800_1_ |
|
|
leukocyte
receptor cluster (LRC) member 4|leukocyte receptor cluster (LRC) member 5 |
LENG4|LENG5 |
Intron |
19 |
59379146 |
0.42 |
0.4 |
0.14 |
0.32 |
hCV8716800 |
GCTCTGTCTCCTGTGTCCCCTTCCGCCCTGAGTGCCTGTT[C/G]TGTGTTCCCGCCCTGCCCAGGGCAACCTCCATCCTAGCAT |
G |
G |
C___2916358_10 |
|
|
leukocyte
receptor cluster (LRC) member 4|leukocyte receptor cluster (LRC) member 5 |
LENG4|LENG5 |
|
19 |
59385680 |
0.14 |
0.16 |
0.4 |
0.5 |
hCV2916358 |
AAGTCGCTTTCGCCCCGCCCCCTTGTAAATACTCATGGGT[A/G]TCTGGCGAACCTGTTGACTCCGCCTATCATCCTAGCGTCA |
C |
C |
C___8716692_1_ |
rs158366 |
IMS-JST061535 |
leukocyte
receptor cluster (LRC) member 5|ribosomal protein S9 |
LENG5|RPS9 |
Intron |
19 |
59397129 |
0.27 |
0.17 |
0.41 |
0.39 |
hCV8716692 |
CGCCTGGTGGGGAGAAGGGGGTGGACAAGTGTAGTCCCAC[C/G]TACTGGCACAACAACTAGACTGGCAGCTTTGGAATCACAA |
G |
G |
C___2941281_10 |
rs3786631 |
|
ribosomal
protein S9|leukocyte immunoglobulin-like receptor, subfamily B (with TM and
ITIM domains), member 3|leukocyte immunoglobulin-like receptor, subfamily B
(with TM and ITIM domains), member 5|leukocyte immunoglobulin-like receptor,
subfamily B (wit |
RPS9|LILRB3|LILRB5|ILT8 |
Intron |
19 |
59402485 |
0.47 |
0.23 |
0.04 |
0.12 |
hCV2941281 |
CGCAGTCATGGATCGGGGTCTGGAATCAACTTCACAAGCG[A/G]GCCAGGAGACAGCTGAACCCACCACCCAAGCGAGGTGAGG |
C |
C |
C__11505951_1_ |
rs2304523 |
IMS-JST061533 |
ribosomal
protein S9|leukocyte immunoglobulin-like receptor, subfamily B (with TM and
ITIM domains), member 3|leukocyte immunoglobulin-like receptor, subfamily B
(with TM and ITIM domains), member 5|leukocyte immunoglobulin-like receptor,
subfamily B (wit |
RPS9|LILRB3|LILRB5|ILT8 |
Intron |
19 |
59403070 |
0.13 |
0.46 |
0.47 |
0.5 |
hCV11505951 |
AAGGACGGGATGTTCACCACCTGCTTGCGGACCCTGGAAG[A/C]AGCGACAAGGTGAGGTGGACTGGAGGAGAAACGGACGCTA |
G |
G |
C___2941278_1_ |
rs3745409 |
|
ribosomal
protein S9|leukocyte immunoglobulin-like receptor, subfamily B (with TM and
ITIM domains), member 3|leukocyte immunoglobulin-like receptor, subfamily B
(with TM andITIM domains), member 5|leukocyte immunoglobulin-like receptor,
subfamily B (with |
RPS9|LILRB3|LILRB5|ILT8 |
|
19 |
59404396 |
|
|
0.24 |
0.29 |
hCV2941278 |
ACTCTCCCCTCCCTCCAGGCTGCCGTGGAGCTCCGCAATT[C/G]TGAGCTACACCCAGGTGAGCCACCACCTCTCAGACCAGAG |
C |
C |
C___2941225_10 |
rs2361796 |
|
leukocyte
immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member
5|leukocyte immunoglobulin-like receptor, subfamily A (without TM domain),
member 3|leukocyte immunoglobulin-like receptor, subfamily B (with TM and
ITIM domains), memb |
LILRB5|LILRA3|LILRB3|ILT8 |
Intron |
19 |
59446197 |
0.28 |
0.2 |
0.15 |
0.18 |
hCV2941225 |
TCATCATTTAATGTGTAATATTTACATTATCATTCCAAAT[T/G]TATACCATGCTCTAATTTCTGTTTCAGTTTTCTCAGCTCA |
G |
G |
C___2941212_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member
5|leukocyte immunoglobulin-like receptor, subfamily A (without TM domain),
member 3|leukocyte immunoglobulin-like receptor, subfamily B (with TM and
ITIM domains), memb |
LILRB5|LILRA3|LILRB3|ILT8 |
Intron |
19 |
59459777 |
0.39 |
0.08 |
0.11 |
0 |
hCV2941212 |
TTATCTACAAATGAGGCAAACAAAGCATATGGGTGTGAAT[G/A]GGGAGAAGTACAGTGTTCTCTGTTGTAATTGACCCCGAGG |
A |
A |
C___3299714_10 |
rs4806741 |
|
leukocyte
immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member
3|leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM
domains), member 5|leukocyte immunoglobulin-like receptor, subfamily B (with
TM and ITIM domains |
LILRB3|LILRB5|ILT8 |
Intron |
19 |
59502182 |
0.24 |
0.03 |
0.15 |
0.35 |
hCV3299714 |
TGGGGGTCGGCGGTGACTGGGACTTCGAAGGAGCTCAATG[A/G]TGGTTAATTCCCAGGACAGAGTAAGACATAGGGTTGTAAA |
G |
G |
C___2819246_10 |
rs1761462 |
|
leukocyte
immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member
3|leukocyte immunoglobulin-like receptor, subfamily B (with TM andITIM
domains), member 5|leukocyte immunoglobulin-like receptor, subfamily B (with
TM and ITIM domains) |
LILRB3|LILRB5|ILT8 |
|
19 |
59516479 |
|
|
0.35 |
0.1 |
hCV2819246 |
TTGGGCTTCCCTCTATACCTCAATCCATGTTCAACATTTT[T/C]GGAGTAATTACTTAGGCTTTGTTTTAAAATTTTCATTCTT |
T |
T |
C___8706984_10 |
rs1205318 |
|
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member
4|leukocyte-associated Ig-like receptor 1 |
ILT7|LAIR1 |
|
19 |
59533210 |
0.29 |
0.1 |
0.08 |
0.07 |
hCV8706984 |
TCTGACTTCCTCACCTGAGAACAGGAGCTTCAGGGAGTCG[C/T]TGAGTTCCGACCACACCTGAAGGGTGTTCCTGTTATTGCC |
T |
T |
C___3170730_10 |
rs885733 |
|
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member
4|leukocyte-associated Ig-like receptor 1 |
ILT7|LAIR1 |
|
19 |
59535859 |
0.46 |
0.43 |
0.36 |
0.4 |
hCV3170730 |
GCTTCTTCTCCTCTGAGGGGTGAATTCCTCTGTGGCTGAG[T/C]CTCCCTCAGAGCCCCCTTCACTCCATCTCTGCCCAGAGCT |
C |
C |
C___1997111_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member
4|leukocyte-associated Ig-like receptor 1 |
ILT7|LAIR1 |
|
19 |
59544316 |
0.34 |
0.36 |
0.47 |
0.36 |
hCV1997111 |
TCTCCCAACGTTATCACCCTTGCAGCTGTGAGATTAACTC[C/G]TTCTTGCACACCTGTACCTGAAAAAAATAATAGTCCTCTT |
C |
C |
C___1997109_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member
4|leukocyte-associated Ig-like receptor 1 |
ILT7|LAIR1 |
|
19 |
59544422 |
0.17 |
0.14 |
0.1 |
0.19 |
hCV1997109 |
GGAACATGCCTCCGCTCCTCCAGATTCTTCCCGCCCTATC[T/G]CAGTTTTTTTCTGCAGATTCTCCAAGGTTCTGCAAACTGT |
G |
G |
C___7798685_1_ |
rs2287824 |
IMS-JST038844 |
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member
4|leukocyte-associated Ig-like receptor 1 |
ILT7|LAIR1 |
|
19 |
59554712 |
0.18 |
0.27 |
0.21 |
0.34 |
hCV7798685 |
AGCAGGTGCAGAGCTCTGGGGACTCTCAAAGCACTTTTAA[C/A]TCTGGTTAAGTGTCAGAATTGCATTTAGACATCAACACAT |
C |
C |
C___1996961_10 |
|
|
leukocyte-associated
Ig-like receptor 1 |
LAIR1 |
|
19 |
59580515 |
0.41 |
0.17 |
0.28 |
0.27 |
hCV1996961 |
AAGTATGGCATCATCATATTTTTGTCTAAAATGTATCTGT[G/A]AGACCACTTCCTGAAGTCAGAATTGCACGAAGCAAAAACA |
A |
A |
C___1997000_10 |
|
|
tweety
homolog 1 (Drosophila) |
TTYH1 |
Intron |
19 |
59627504 |
0.26 |
0.28 |
0.49 |
0.48 |
hCV1997000 |
CTGACCACAATGCAGAACCTGGACTTCTTCAAACCCAGGC[C/T]TGTCTGTCTCTTGCACCTGCTGCCCTGCGGGTGTGTCCTG |
G |
G |
C___1997001_10 |
rs3786637 |
|
tweety
homolog 1 (Drosophila) |
TTYH1 |
Intron |
19 |
59627649 |
0.07 |
0.09 |
0.02 |
0.06 |
hCV1997001 |
GGGTGCTTTCGCAGTGGTGCACCCGGAAGATATTTTCTAG[C/T]GATGGTGGGTCTGCCTCACCCTGGCATCACCCTTATGGCT |
A |
A |
C___1997005_10 |
rs3745428 |
|
tweety
homolog 1 (Drosophila) |
TTYH1 |
Intron |
19 |
59632115 |
|
|
0.49 |
0.48 |
hCV1997005 |
|
#N/A |
#N/A |
C___1997043_10 |
|
|
CDC42
effector protein (Rho GTPase binding) 5|leukocyte receptor cluster (LRC)
member 8|KIAA1932 protein |
CDC42EP5|LENG8|KIAA1932 |
Intron |
19 |
59660224 |
0.37 |
0.25 |
0.36 |
0.38 |
hCV1997043 |
AGGTTCTGCAGCAGAACAGTGACTACGCCAAACACTGGAA[G/A]CACAGCCCCCCACGCCCCACAGCCCACGGGCCTGGGAGAA |
T |
T |
C___1997056_10 |
|
|
CDC42
effector protein (Rho GTPase binding) 5|leukocyte receptor cluster (LRC)
member 8|KIAA1932 protein |
CDC42EP5|LENG8|KIAA1932 |
Intron |
19 |
59673067 |
0.27 |
0.16 |
0.34 |
0.36 |
hCV1997056 |
TTCCAACCCCTGTTTTTTGAGGAGTAAACTGAGCTTTAGG[C/T]TGAGGAAGCCAGTTTGGGATCGCACAAGAAGGAAATGGCA |
A |
A |
C__11527482_10 |
|
|
leukocyte-associated
Ig-like receptor 2 |
LAIR2 |
|
19 |
59702438 |
0.2 |
0.48 |
0.32 |
0.42 |
hCV11527482 |
GAAACCACCAACATATCCAAGATTTTCCTCACTACTCAGA[T/A]GATTCCTCCTGCTGACAGAATCAACATCAAAGGTCACAGA |
A |
A |
C__15964256_10 |
rs2277974 |
|
leukocyte-associated
Ig-like receptor 2 |
LAIR2 |
Intron |
19 |
59711214 |
0.44 |
0.48 |
0.27 |
0.22 |
hCV15964256 |
|
#N/A |
#N/A |
C___1996983_10 |
|
|
leukocyte-associated
Ig-like receptor 2 |
LAIR2 |
|
19 |
59715845 |
0.44 |
0.41 |
0.44 |
0.32 |
hCV1996983 |
GAACAGTTGGGTGCTTTTGTTTAATTTCCCCTAAACCATG[A/T]CTGTCCTGCTTTTCACTGTGGCCTGGCTGCCTGCACATCC |
A |
A |
C___8718695_1_ |
|
|
|
|
|
19 |
59738299 |
0.48 |
0.2 |
0.34 |
0.15 |
hCV8718695 |
CCTCACTGTTTTTCAACTCTGCGTGTTGAAAAATACAAGA[A/C]TCTCTGGAGGATCAGAAGAAATCTCACAGGCTCACACTGA |
T |
T |
C___2912591_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily A (with TM domain), member
1|leukocyte immunoglobulin-like receptor, subfamily A (with TM domain),
member 2 |
LILRA1|LILRA2 |
|
19 |
59791407 |
0.1 |
0.2 |
0.3 |
0.33 |
hCV2912591 |
GGACTGTAGGTATATGGGTGAGCTCTCAGTGGGATGTGCC[G/A]CAGGTCCCTGGTGCTCATTAGTGAAGACAGTTCTGTCCCT |
C |
C |
C___3137438_10 |
rs2363863 |
|
leukocyte
immunoglobulin-like receptor, subfamily A (with TM domain), member 1 |
LILRA1 |
Intron |
19 |
59803597 |
0.33 |
0.31 |
0.16 |
0.17 |
hCV3137438 |
AATTATTTCAGATTTCTTGCATTCTAGAAATTCGAATGTT[A/G]CTCCTGAGGCATTTGGGGAGGGCGTTTTCCTGCACTCTGG |
T |
T |
C___3137439_10 |
rs1000574 |
|
leukocyte
immunoglobulin-like receptor, subfamily A (with TM domain), member 1 |
LILRA1 |
|
19 |
59806587 |
|
|
0.45 |
0.3 |
hCV3137439 |
TCAAAGGGGGGAATGCCCATATTTATGACATACATTGCAC[G/A]TAAAATGTTAAGTATTTACTGGACAAGGAAGGAAAAATCT |
C |
C |
C___3137451_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily A (with TM domain), member
1|leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM
domains), member 1 |
LILRA1|LILRB1 |
|
19 |
59815117 |
0.34 |
0.45 |
0.46 |
0.28 |
hCV3137451 |
AATCACAGGAAACATCCTGTTGTTATAGGCATTGACAAAG[C/T]GTTTACAGCTAAGTCCTTGAACGCAATTAAACAAAAATAA |
A |
A |
C___1946484_10 |
rs1654656 |
|
leukocyte
immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member
4 |
LILRB4 |
|
19 |
59875789 |
0.47 |
0.29 |
0.03 |
0.06 |
hCV1946484 |
CTGAGGTCGCAGGACTCATGGAGAATTCAACCTCTACCAC[G/A]GAGTAGGGTACTTTGATATTAGATACGAGGGTGGGGTCTT |
C |
C |
C___1946544_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member 5 |
ILT10 |
|
19 |
59905093 |
0.06 |
0.02 |
0.48 |
0.49 |
hCV1946544 |
TTCAAAAAATGTCTTTTTCAGAATTAGCATACCATTGGGT[C/T]GTGACTTCAAATGCCAGTGTGTTGATTCCAGGTGGTGATA |
A |
G |
C___1946549_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member 5 |
ILT10 |
|
19 |
59907531 |
0.26 |
0.16 |
0.5 |
0.47 |
hCV1946549 |
AGCTGAGAAGGAAGGTCTCTTGTAGACGCCTGGGGAAAAA[A/T]ATAGTCCTTGACTGTCGAGCACAAGCCTTACCCAGCCTAT |
A |
T |
C___1946552_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member 5 |
ILT10 |
|
19 |
59908493 |
0.29 |
0.16 |
0.5 |
0.47 |
hCV1946552 |
GGTAGATTCTGTGTGTGACTAACAAGTTCTCTTAGGGTTC[C/T]GAGGTAACAGGACAGCAAATGGATGAGTGAGAGTTTCCCT |
A |
G |
C__22273226_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member 5 |
ILT10 |
|
19 |
59916767 |
0.31 |
0.3 |
0.26 |
0.15 |
hCV22273226 |
CCTCCATTAAACTTCCATTAAATGGCAGTGCTTTCAGTCC[T/A]GCTGTTGTGGACCCTCCGTGTCTGCCCCTCCCTTCCTTTC |
T |
T |
C___2996800_10 |
|
|
leukocyte
immunoglobulin-like receptor, subfamily A (without TM domain), member
5|killer cell immunoglobulin-like receptor, three domains, long cytoplasmic
tail, 3|killer cell Ig-like receptor KIR3DL7 |
ILT10|KIR3DL3|KIR3DL7 |
|
19 |
59925429 |
|
|
0.44 |
0.42 |
hCV2996800 |
ACTAATCCACAAGATGTAAATATTGAAAGAATGACATTAC[C/A]TTGTCATGATAATGCCCAGTGCAAAATATGCTTCTAGTCA |
A |
C |
C___2996831_1_ |
rs270790 |
IMS-JST002375 |
killer
cell immunoglobulin-like receptor, three domains, long cytoplasmic tail,
3|killer cell Ig-like receptor KIR3DL7 |
KIR3DL3|KIR3DL7 |
Mis-sense
Mutation |
19 |
59931035 |
0.45 |
0.34 |
0.31 |
0.22 |
hCV2996831 |
TCTGCACAGAGAGGGGATCACTGAGGACCCCTTGCGCCTC[A/G]TTGGACAGCTCCACGATGCGGGTTCCCAGGTCAACTATTC |
G |
G |
C___1305477_10 |
|
|
killer
cell immunoglobulin-like receptor, three domains, short cytoplasmic tail,
1|killer cell immunoglobulin-like receptor, two domains, long cytoplasmic
tail, 4|killer cell immunoglobulin-like receptor, three domains, long
cytoplasmic tail, 1|killer cel |
KIR3DS1|KIR2DL4|KIR3DL1|KIR2DL1|KIR2DL2|KIR2DS1|KIR2DS4 |
Intron |
19 |
60012591 |
0.14 |
0.07 |
0.09 |
0.13 |
hCV1305477 |
TGATCCAACCCTGGTTGACTTAGTGGAACAAGAGCTTTGC[A/G]GTAAGAGAGAACGTAGTTCATCCGTGCACATGACACTTCC |
A |
A |
C___1478510_10 |
|
|
Fc
fragment of IgA, receptor for|killer cell immunoglobulin-like receptor, three
domains, long cytoplasmic tail, 2 |
FCAR|KIR3DL2 |
Intron |
19 |
60078702 |
0.38 |
0.46 |
0.07 |
0.09 |
hCV1478510 |
CCTTTAGACCCTCTTGGGAGCTCTAGGATAAAGAAATTGA[A/G]GAATAGCCTGAAGCACCATTCTTATTTTAATCCCCATTCT |
A |
A |
C___7841409_10 |
rs269950 |
|
NACHT,
leucine rich repeat and PYD containing 7|PYRIN-containing Apaf1-like protein
3 |
NALP7|PYPAF3 |
Mis-sense
Mutation |
19 |
60133714 |
0.45 |
0.43 |
0.35 |
0.27 |
hCV7841409 |
CCTACCGTAGGTGTTTTAGGTTACAGTTTGGATTCTCTAA[T/C]GCCTGACAGAGAATCCACAATCCACGAGCTATCTGGTTGA |
T |
T |
C___7841402_10 |
rs269951 |
|
NACHT,
leucine rich repeat and PYD containing 7|PYRIN-containing Apaf1-like protein
3 |
NALP7|PYPAF3 |
Mis-sense
Mutation |
19 |
60133807 |
0.47 |
0.43 |
0.34 |
0.28 |
hCV7841402 |
GGTTTGTGAGGCTGCAGGCTTCTTGGAGCGCCTCTGAGAG[A/G]TATCTACAGCCAAGCTTGGTTATGCTGCATTGCTGTAACC |
A |
A |
C___8718028_10 |
rs775883 |
|
NACHT,
leucine rich repeat and PYD containing 7|PYRIN-containing Apaf1-like protein
3 |
NALP7|PYPAF3 |
Mis-sense
Mutation |
19 |
60143609 |
|
|
0.17 |
0.23 |
hCV8718028 |
CAATGTCTCCTTGCCAAAAGGTGTTCTTCCAGACCAAAGA[C/T]TGTTTCTCCATTGAATTTCTCCATCCTTCCTTTTCACCTG |
T |
T |
C___8717948_1_ |
rs1654496 |
IMS-JST062889 |
NACHT,
leucine rich repeat and PYD containing 2 |
NALP2 |
Intron |
19 |
60193646 |
0.38 |
0.27 |
0 |
0.06 |
hCV8717948 |
CTGGCACTTGTGGAGCTAGCCGGGAAGGTTGAAGTTGGAC[A/C]TGTCAACCGTGTTGCCATTTGTGATTCTTTTGTAGGTTGG |
A |
A |
C___1376227_10 |
rs1671133 |
|
NACHT,
leucine rich repeat and PYD containing 2 |
NALP2 |
Intron |
19 |
60198861 |
0.45 |
0.38 |
0.12 |
0.24 |
hCV1376227 |
ATCAGCAGGTGAGTGGTCTCAACTTGGCTATCTTACAAAT[C/A]CCTTGTGAGTTAGCTACAATCAGATGCACTTGAACCTGGA |
C |
C |
C___1376266_10 |
rs1654413 |
|
glycoprotein
VI (platelet)|retinol dehydrogenase 13 (all-transand 9-cis) |
GP6|RDH13 |
Mis-sense
Mutation |
19 |
60218171 |
|
|
0.18 |
0.21 |
hCV1376266 |
CTGTCGGCCTCCATCCTGACCCCCGTGTGATTTCCGGGTC[T/A]GCGGGAGGGGCGGGAGGGGCGGAAGCGGCCTCTGCACAGC |
#N/A |
#N/A |
C___1376340_10 |
rs1671191 |
|
glycoprotein
VI (platelet)|retinol dehydrogenase 13 (all-trans and 9-cis) |
GP6|RDH13 |
Intron |
19 |
60221454 |
0.1 |
0.32 |
0.18 |
0.22 |
hCV1376340 |
AGCGTATCTGCAGAGGCCTGGAGCGGTTAGAAGATGTGCT[G/A]TGTCCAGGTGCCTACAGTCTGTGTGCGTCCGAGCATGGGC |
G |
G |
C___1376342_1_ |
rs1654416 |
IMS-JST061074 |
glycoprotein
VI (platelet)|retinol dehydrogenase 13 (all-trans and 9-cis) |
GP6|RDH13 |
Mis-sense
Mutation |
19 |
60221847 |
0.1 |
0.33 |
0.28 |
0.11 |
hCV1376342 |
GAGCATGAAATGCCTGGTTACTCACCAGTTGTGAAGACTT[T/C]GTTTGTGAATGAGACGGTCAGTTCAGCGGTGGCTTCTGAG |
C |
C |
C___8717871_10 |
rs1654421 |
|
glycoprotein
VI (platelet)|retinol dehydrogenase 13 (all-trans and 9-cis) |
GP6|RDH13 |
Intron |
19 |
60229274 |
0.09 |
0.34 |
0.19 |
0.21 |
hCV8717871 |
TTCTGGGCTATTAACAAGGAAATGCATGCAGCTCCCGTCC[G/A]CCTTTTTCAACCTCAGTTCTATTTCTTCTGGATTCCTGTG |
A |
A |
C___1376388_1_ |
|
|
glycoprotein
VI (platelet)|retinol dehydrogenase 13 (all-trans and 9-cis) |
GP6|RDH13 |
|
19 |
60244831 |
0.33 |
0.42 |
0.14 |
0.19 |
hCV1376388 |
TTGCTTTTTCCTTGAGAGAACTGTACTCAAGATGATGTAA[A/C]TGTCACCCCGGGTGCCACTTGGGTGCTTTGGAGAAGCGCT |
C |
C |
C___1376463_10 |
rs1654468 |
|
retinol
dehydrogenase 13 (all-trans and 9-cis)|EPS8-like 1|epidermal growth factor
receptor pathway substrate 8-related protein 1 |
RDH13|EPS8L1|EPS8R1 |
Intron |
19 |
60276005 |
0.27 |
0.29 |
0.13 |
0.16 |
hCV1376463 |
CATCAATCGAAGGCAAAAATGTGCCTTCTCTGATTTCCAG[C/G]CTCACTCAGCATAGACCGTGGAGGCAACATATCTTGAATG |
C |
C |
C__22272348_10 |
rs2290476 |
|
protein
phosphatase 1, regulatory (inhibitor) subunit 12C|EPS8-like 1|epidermal
growth factor receptor pathway substrate 8-related protein 1 |
PPP1R12C|EPS8L1|EPS8R1 |
Intron |
19 |
60289181 |
|
|
0.47 |
0.45 |
hCV22272348 |
|
#N/A |
#N/A |
C___3015152_10 |
|
|
protein
phosphatase 1, regulatory (inhibitor) subunit 12C |
PPP1R12C |
Intron |
19 |
60306572 |
0.18 |
0.24 |
0.29 |
0.22 |
hCV3015152 |
GACAAGATCCACAGGAAGGTATAAGACAGCAAGATGGAAC[A/G]GACTGGCCCAACTCACCTCATCACCTCAATGTAGCCCTTG |
G |
G |
C__25594134_10 |
|
|
protein
phosphatase 1, regulatory (inhibitor)subunit 12C |
PPP1R12C |
Mis-sense
Mutation |
19 |
60315925 |
0.12 |
0.09 |
0.15 |
0.15 |
hCV25594134 |
GTGGCGTCCAGCCCTCGTTGTCTGCCTGGTTCACAGTGGC[A/G]CCCTGCTCCACCAAGAAGCGCACCACCTCCAGGTTCTCAT |
A |
A |
C__11506318_10 |
rs2560942 |
|
troponin
T1, skeletal, slow |
TNNT1 |
Intron |
19 |
60344570 |
0.32 |
0.42 |
0.47 |
0.36 |
hCV11506318 |
GCAGCCTCCCAGCACCTCCCCCATGCAGGATGGTGAACTG[A/G]ACCGTTTCCCAGGACGGTATCCAGCAGGTGGCAGCAATGC |
A |
A |
C___2829707_10 |
|
|
troponin
T1, skeletal, slow|similar to hypothetical testis protein from
macaque|troponin I, cardiac |
TNNT1|LOC352909|TNNI3 |
|
19 |
60360631 |
0.28 |
0.32 |
0.2 |
0.12 |
hCV2829707 |
TTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCC[A/G]CTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCA |
G |
G |
C___2829694_10 |
|
|
synaptotagmin
V|similar to hypothetical testis protein from macaque|troponin I, cardiac |
SYT5|LOC352909|TNNI3 |
Intron |
19 |
60369335 |
0.49 |
0.46 |
0.42 |
0.44 |
hCV2829694 |
TTCTAAGGGGAGGTGTTTCCTCTGAGTATTCTGGGATTCG[C/T]AGTCCGCAGACAGGACCTCGGGGCTGCCCCTGGGAGCGCG |
T |
T |
C__15869281_10 |
rs2071574 |
|
protein
tyrosine phosphatase, receptor type, H|synaptotagmin V|similar to
hypothetical testis protein from macaque|troponin I, cardiac |
PTPRH|SYT5|LOC352909|TNNI3 |
Intron |
19 |
60377950 |
|
|
0.17 |
0.33 |
hCV15869281 |
CGGGTCTCCCTAGCTCTATGCCAAAATCCATGCCTTCCAC[A/G]GCAGCCAGGTCCTCCCTGTCCCCGAAGAAACCCTCGAGGC |
G |
G |
C___8718739_1_ |
rs2288420 |
IMS-JST039652 |
protein
tyrosine phosphatase, receptor type, H|synaptotagmin V |
PTPRH|SYT5 |
Nonsense
Mutation |
19 |
60384935 |
0.01 |
0.12 |
0.2 |
0.33 |
hCV8718739 |
TTGAGGATGCCTGGGCTGCCGACCCAGCCCCCTCGTCACT[C/T]AGACCTCCAACTTGTGGGCCTGGATGGCGGCCACGTTCTC |
C |
C |
C__15878898_10 |
rs2288523 |
IMS-JST039804 |
protein
tyrosine phosphatase, receptor type, H |
PTPRH |
Mis-sense
Mutation |
19 |
60394722 |
0.18 |
0.31 |
0.27 |
0.38 |
hCV15878898 |
TAAAGACCAGATCCCTGAGTTCTGGTTTCTGCTGCTTCTT[C/A]TTATTCCTGGGAAAAGGACGTTAGGATGAGAGGCTCAGGG |
#N/A |
#N/A |
C___2829600_10 |
|
|
KIAA1115|hypothetical
protein MGC30208 |
KIAA1115|MGC30208 |
|
19 |
60427759 |
0.48 |
0.27 |
0.39 |
0.35 |
hCV2829600 |
GGGCTGGAAGGAGCCTGAGAGGGATGTGCGCAGCACCTCC[A/G]AGAGTCCCGCTTTAGAGAAACACGAATCAGATCATGAGAA |
G |
G |
C__11506418_10 |
rs4473307 |
|
KIAA1115|hsp70-interacting
protein|hypothetical protein MGC30208 |
KIAA1115|HSPBP1|MGC30208 |
|
19 |
60458618 |
|
|
0.12 |
0.1 |
hCV11506418 |
GCTTGCATTCCCATTTGACCTCCCCAAACTGAAATCTCTG[T/G]GGCCTAGACCAAGGATCTCACCCCACCGAGCCCCAGTTTC |
G |
G |
C__11786410_10 |
|
|
KIAA1811
protein|hsp70-interacting protein |
KIAA1811|HSPBP1 |
Intron |
19 |
60480307 |
0.39 |
0.45 |
0.3 |
0.07 |
hCV11786410 |
GGCCAGGCGCAGGAAACAGCGCTGGGGTGGGCCTCGCAGA[T/C]GGGGAGGTAAATGCTGTTTTACTCCAAGCAGCAGAGCTCA |
T |
T |
C__15792691_10 |
|
|
KIAA1811
protein|hsp70-interacting protein |
KIAA1811|HSPBP1 |
Intron |
19 |
60491117 |
0.24 |
0.34 |
0.08 |
0.17 |
hCV15792691 |
ACGGACCTGATGTCAGTTCATCCGGGGGACTGGGTGCCGG[G/C]GGGGAACACGAGGGCTGTCCCCTCTCCGGCTTCCCAGCCC |
C |
C |
C___1142349_10 |
|
|
KIAA1811
protein |
KIAA1811 |
|
19 |
60517753 |
0.38 |
0.29 |
0.1 |
0.02 |
hCV1142349 |
GGGTGGGGTAGGTGGGGGAGGGAACCATAAAGACAGCTAG[C/T]TGAGTGTCGTAAGGGATGGACGTCTGTAAAGACGGGCCTG |
A |
A |
C___1142369_10 |
|
|
KIAA1811
protein |
KIAA1811 |
|
19 |
60525476 |
0.38 |
0.33 |
0.1 |
0.02 |
hCV1142369 |
CCTCTCATTCTCCTGCAGAGCCCAGCATGTGAGGCTTACC[C/T]GTCCCTGTCCCTGCTGGCTGGGCTATCTTGGGGTCTGGAC |
G |
G |
C___8876911_10 |
rs897798 |
|
KIAA1811
protein |
KIAA1811 |
|
19 |
60525566 |
0.49 |
0.44 |
0.1 |
0.02 |
hCV8876911 |
ATGCACCTGGGCCCTCCCCAAGGGGCTGGTTCTTCAGGTG[C/T]GAAGGGGAGGAGAGAGAAAGAGGAAAGCGAGAGGGGCCCA |
G |
G |
C___8876900_10 |
rs1466304 |
|
hypothetical
protein MGC2705|hypothetical protein MGC35045|cytochrome c oxidase subunit
VIb, testes-specific|hypothetical protein FLJ32865 |
MGC2705|MGC35045|COXVIB2|FLJ32865 |
Intron |
19 |
60556215 |
|
|
0.04 |
0.06 |
hCV8876900 |
CCCAGAACATCGAGATCCCCATCATGTGAGCCAGCTTATT[C/T]CCAACAGAATCCCCTGGTGTCCACGCTTTCGGCACCCGCA |
A |
A |
C___1142386_10 |
|
|
hypothetical
protein MGC2705|hypothetical protein MGC35045|interleukin 11|cytochrome c
oxidase subunit VIb, testes-specific|hypothetical protein FLJ32865 |
MGC2705|MGC35045|IL11|COXVIB2|FLJ32865 |
|
19 |
60558741 |
0.46 |
0.31 |
0.26 |
0.24 |
hCV1142386 |
TGAAACCACCTGCCCAGATTCCAGTTACTTGTCTGCCCCT[G/A]GAGCCAAGACTCATTGATTCCGCCTCGGATTTATTGTGCA |
T |
T |
C___1142395_10 |
|
|
hypothetical
protein MGC35045|interleukin 11|cytochrome c oxidase subunit VIb,
testes-specific|hypothetical protein FLJ32865 |
MGC35045|IL11|COXVIB2|FLJ32865 |
|
19 |
60565454 |
0.15 |
0.44 |
0.08 |
0.13 |
hCV1142395 |
CAGGACCACGCGCACGGCCCCCCTGGATATGCCGCTGGCC[A/G]AAGCGCCTGCCTCCACCTGGCACCTGCAGGTGGGATCCCA |
C |
C |
C___8104551_10 |
|
|
MDAC1|interleukin
11|ribosomal protein L28 |
MDAC1|IL11|RPL28 |
|
19 |
60579968 |
0.4 |
0.12 |
0.2 |
0.27 |
hCV8104551 |
ACTGTGGGAAGAGGCCTTACAGGACATCACCCCAGCAACC[G/A]GCCCCGCCCGCCTGCCCGCCAGGCCCCAGGATTGTGAGTT |
C |
C |
C___2001119_10 |
|
|
hypothetical
protein FLJ23469 |
FLJ23469 |
Intron |
19 |
60658783 |
|
|
0.09 |
0.16 |
hCV2001119 |
GGAAGGAGGTTCTATTTAGGATGGGGGTCCCAGGTTAGAA[C/T]GAGGGACCCCTGGGGTCAGTCAGCATCTCACCAAGATGCA |
T |
T |
C___2001117_10 |
|
|
hypothetical
protein FLJ23469 |
FLJ23469 |
Intron |
19 |
60660200 |
0.15 |
0.05 |
0.24 |
0.2 |
hCV2001117 |
CAGCCCTGGTTACCATCAGCCCCAAAACGGAGGCTCTGCT[G/C]GGCGTCCTCCTGTGTTGGGCCAGCCCACTCCCCAGGGCCT |
C |
C |
C__11512406_1_ |
rs3745452 |
|
hypothetical
protein FLJ23469 |
FLJ23469 |
|
19 |
60671036 |
0.44 |
0.35 |
0.1 |
0.13 |
hCV11512406 |
ATTCACATCTGGTAGCTCTTATTTCAAAATTTGCATTCCA[C/T]AGTCCAGGGGCCAAGAGCAACATCCGCCGGCCAGCTCTGT |
T |
T |
C___8879227_1_ |
rs7478 |
IMS-JST025071 |
K562
cell-derived leucine-zipper-like protein 1|zinc finger protein 580|zinc
finger protein 581 |
KLP1|ZNF580|ZNF581 |
UTR
3 |
19 |
60690323 |
0.48 |
0.11 |
0.27 |
0.22 |
hCV8879227 |
AGCCTGGCCTCTGTCCACCCGTCAGCAGTGTGAAGTCTGT[T/A]GTGTTTGAGCTTCTCAGAGTGGAATGACTCCTTTTCCTTC |
A |
A |
C___8879214_10 |
rs1477334 |
|
K562
cell-derived leucine-zipper-like protein 1|zinc finger protein 580|zinc
finger protein 581 |
KLP1|ZNF580|ZNF581 |
|
19 |
60695589 |
0.28 |
0.45 |
0.37 |
0.31 |
hCV8879214 |
TGCCTAGTGTACAAGCTGTGGGGGAAGAAGTGGGACCTTC[A/G]GAGCAGAGTTCATTGGAGGGAAGTTGAGGCTCTGGAGAGG |
G |
G |
C____990905_10 |
rs721781 |
|
K562
cell-derived leucine-zipper-like protein 1|zinc finger protein 580|zinc
finger protein 581 |
KLP1|ZNF580|ZNF581 |
|
19 |
60695892 |
0.36 |
0.35 |
0.29 |
0.25 |
hCV990905 |
GGGGGACAGAGAGAGGGACTCCAGAGTCCTCCAATGATGA[C/G]TCAACTCTTACCCCAACAGAAATGTACCCGAAGAGCCAGG |
C |
C |
C__11512425_10 |
|
|
zinc
finger protein 580|zinc finger protein 581 |
ZNF580|ZNF581 |
|
19 |
60701693 |
0.44 |
0.32 |
0.22 |
0.21 |
hCV11512425 |
GAAGCTTCTGCTTCCTCTTCCTTCCAGGAATCAAGGAAAT[T/C]TCCCACTAAGAAAGGAGCTTTAGCTTTCCTAAGATGAAAG |
C |
C |
C___3173731_10 |
rs645973 |
|
zinc
finger protein 580|zinc finger protein 581 |
ZNF580|ZNF581 |
|
19 |
60731863 |
0.28 |
0.49 |
0.28 |
0.32 |
hCV3173731 |
GCTGGGGCGAGAGAAGGCAAAACACATCACAGAGAGGGTG[A/G]TGCCAGGTGGGAGGGAGACCCGGCCGGAGAGAAGGAGAGA |
A |
A |
C____990875_10 |
rs310453 |
|
zinc
finger protein 580|zinc finger protein 581 |
ZNF580|ZNF581 |
|
19 |
60739260 |
0.1 |
0.06 |
0.14 |
0.08 |
hCV990875 |
CCTTTCTGACGATGGGTGACCAGAAGGACGCGGCCATAGC[A/G]ACCCTGGCCCAGGGGACGCACTTCCTCGTAGAGCTCGTCC |
A |
A |
C___3173722_10 |
rs654439 |
|
zinc
finger protein 580|zinc finger protein 581 |
ZNF580|ZNF581 |
|
19 |
60744582 |
0.14 |
0.13 |
0.42 |
0.29 |
hCV3173722 |
GGGTCAGACCCAGGTCTCCCAGGGCCACACGGCTGCAGAC[C/T]GGGTCGAAGACCAGCACGTTGTCAGGTTTGACATCTGCGT |
C |
C |
C___3173682_10 |
rs1079085 |
|
zinc
finger protein 579|zinc finger protein 580|zinc finger protein
581|hypothetical protein FLJ35453 |
ZNF579|ZNF580|ZNF581|FLJ35453 |
|
19 |
60784457 |
0.25 |
0.2 |
0.19 |
0.16 |
hCV3173682 |
CGGGGGAGGAAGATGAATGAATCAGTGACAGAGGCTTCAG[A/G]AAGTACTGGCACTCTGGATCAGAACCTGGCTCCAGCCTTC |
A |
A |
C___3173679_10 |
rs1079082 |
|
hypothetical
protein FLJ14768|zinc finger protein 579|zinc finger protein 580|zinc finger
protein 581|hypothetical protein FLJ35453 |
FLJ14768|ZNF579|ZNF580|ZNF581|FLJ35453 |
|
19 |
60784611 |
0.24 |
0.21 |
0.2 |
0.17 |
hCV3173679 |
CTCATTCAACCCTAAGCGACCAATATTTACTGAATATCTA[T/C]TACGGGCCAGCCTGCATATATTTGTCTACATATACGCATA |
T |
T |
C____990852_10 |
rs588115 |
|
hypothetical
protein FLJ14768|zinc finger protein 579|zinc finger protein 580|zinc finger
protein 581|hypothetical protein FLJ35453 |
FLJ14768|ZNF579|ZNF580|ZNF581|FLJ35453 |
|
19 |
60790747 |
0.34 |
0.32 |
0.44 |
0.41 |
hCV990852 |
GCGGTGCCTGCTTCGAAGTGGGCGGGCCTTGTTTCTCGAA[A/G]GAAGATACTTTTTTTCTCAAACCAGAAAGCATGTCTGGTT |
A |
A |
C___3173662_10 |
|
|
hypothetical
protein FLJ14768|zinc finger protein 524|zinc finger protein 580|zinc finger
protein 581|hypothetical protein MGC23143 |
FLJ14768|ZNF524|ZNF580|ZNF581|MGC23143 |
Intron |
19 |
60798033 |
0.35 |
0.29 |
0.2 |
0.13 |
hCV3173662 |
GCCCTGCTATCCCGAGCCAGTTATCATGAGCTGAATACAG[G/C]CCTTAGGTGTGTTAGGGCAGAGAAGTGATTTTGAACCGAA |
C |
C |
C___3173655_10 |
rs484519 |
|
hypothetical
protein FLJ14768|zinc finger protein 524|zinc finger protein 580|zinc finger
protein 581|hypothetical protein MGC23143 |
FLJ14768|ZNF524|ZNF580|ZNF581|MGC23143 |
|
19 |
60809178 |
0.36 |
0.19 |
0.31 |
0.42 |
hCV3173655 |
AATGACGGGGAGCGCTATGTGGAGGGGATCCTACGAGGAG[G/A]TATCATTTGGGGGCCCTGGCAGCCGTTTAGGGGATCGCCA |
T |
T |
C___8879030_10 |
rs908668 |
|
zinc
finger protein 580|zinc finger protein 581 |
ZNF580|ZNF581 |
|
19 |
60825850 |
0.23 |
0.24 |
0.34 |
0.16 |
hCV8879030 |
AATTGGGGCGTGCTGGGGCGGTCCTGAGGCAGGTTCCACA[G/A]GCTCCTCTTTCTTCTCCTCTTGCCCAGGTCCTGGTGCCTG |
T |
T |
C____990835_10 |
rs610811 |
|
zinc
finger protein 580|zinc finger protein 581|LDL induced EC protein |
ZNF580|ZNF581|LOC51157 |
|
19 |
60836050 |
0.07 |
0.04 |
0.31 |
0.26 |
hCV990835 |
AATAAATAAAATCAAGTAGGTGGCCTCAGCCTTCTCAGCC[G/A]GCCAGGATATGCTGGGCCAACTCCTGGAAATGTTGGGAAC |
C |
C |
C___3173619_10 |
rs636806 |
|
protein
predicted by clone 23882|U2 (RNU2) small nuclear RNA auxiliary factor 2|U2
small nuclear ribonucleoprotein auxiliary factor (65kD) |
HSU79303|U2AF2|U2AF65 |
Intron |
19 |
60860260 |
0.44 |
0.11 |
0.31 |
0.47 |
hCV3173619 |
GAACCGCCCAATCAGCTCCACTTGGTCCAGCAGAGTGGAA[T/C]TTGGCCTTGCAGCCAGAGCTCAGAATCAGTACCTGCTTTT |
A |
A |
C___3173615_10 |
|
|
epsin
1|U2 (RNU2) small nuclear RNA auxiliary factor 2|U2 small nuclear
ribonucleoprotein auxiliary factor (65kD) |
EPN1|U2AF2|U2AF65 |
Intron |
19 |
60873220 |
0.11 |
0.23 |
0.28 |
0.15 |
hCV3173615 |
GGTGTCTCGGGACTGTTCCCGGCACTCTTCCCCACTCCAC[A/G]GACCAGGCAAAACCATTTGCACAAGCCAGGCCATATAAGG |
C |
C |
C____990794_1_ |
rs664684 |
IMS-JST013230 |
epsin
1|U2 (RNU2) small nuclear RNA auxiliary factor 2|U2 small nuclear
ribonucleoprotein auxiliary factor (65kD) |
EPN1|U2AF2|U2AF65 |
Intron |
19 |
60877062 |
0.2 |
0.33 |
0.35 |
0.41 |
hCV990794 |
AAGGAGAGGCAGGTTTGTGAACAAGGCTCACGCCCAACAG[C/T]CAGTCAGCGTCCACCCAACCCCAGCACTGAAGGCAGGAAG |
A |
G |
C___2942364_10 |
|
|
epsin
1 |
EPN1 |
Intron |
19 |
60888038 |
0.1 |
0.18 |
0.3 |
0.15 |
hCV2942364 |
ATCTCAATCCAAATAAAAGAGGAAATGGCAGCTACAGGCA[C/A]CACAGCCGCCATGGGCATCGCCTGGCATCCTGGAGCCCTG |
T |
T |
C___2942368_10 |
|
|
epsin
1 |
EPN1 |
Intron |
19 |
60893629 |
0.12 |
0.33 |
0.39 |
0.24 |
hCV2942368 |
TCACAGGGAAGTACTGAAGCGTGACCTGGAAGCACAAGGT[C/T]GTGGGAGGGTTTGCTACTCAGCTGCAGAGCATGGGGACGC |
G |
G |
C___3170935_10 |
|
|
epsin
1|NACHT, leucine rich repeat and PYD containing 9 |
EPN1|NALP9 |
|
19 |
60907251 |
0.16 |
0.27 |
0.29 |
0.14 |
hCV3170935 |
CCGGGACCACGAGTAAGAGCCCGCGAGAGGTACGTGTGAG[A/G]GCGACTGTCTCCGTGTGGGCGAGAAGCCTGGAAACGGAGG |
C |
C |
C___1875073_10 |
|
|
|
|
|
19 |
60957864 |
0.05 |
0.11 |
0.12 |
0.06 |
hCV1875073 |
CAAGGATGCTGAAGTTCCAAGGTAAAGTATCTGCCCCACC[C/T]AGACCCTCCCCACAAAGGGCCTAGGGAAAAACAACTGGGC |
C |
C |
C___1875113_10 |
|
|
NACHT,
leucine rich repeat and PYD containing 11|PYRIN-containing APAF1-like protein
6 |
NALP11|PYPAF6 |
|
19 |
60986373 |
0.49 |
0.35 |
0.42 |
0.45 |
hCV1875113 |
CCACAAAGGCTGATTTTGACAGTTATTTCCCAGTTTAATT[T/C]TTGTTTTACCAAAGACTACTTTTAAAATTCCCTACCTTGA |
C |
C |
C___1875143_10 |
rs299169 |
|
NACHT,
leucine rich repeat and PYD containing 11|PYRIN-containing APAF1-like protein
6 |
NALP11|PYPAF6 |
Intron |
19 |
61008608 |
0.42 |
0.08 |
0.16 |
0.16 |
hCV1875143 |
TGTGGCGACTCGGTGGGAGACTGGATGTTTTCCATGTTGC[C/T]GTATTTTCAGAGTCCTTTACCTAGCAATTCTCCTGATCCC |
C |
C |
C__11512621_10 |
|
|
NACHT,
leucine rich repeat and PYD containing 11|PYRIN-containing APAF1-like protein
6 |
NALP11|PYPAF6 |
Intron |
19 |
61021891 |
0.08 |
0.4 |
0.17 |
0.21 |
hCV11512621 |
GATTATACTCCTTGGAGGTATGTCATTGATACGTATAAGG[G/A]CTCCTAATGAAGAGGCAACTGTTATAATAAGCAAACAGGC |
G |
G |
C___1875181_10 |
rs302473 |
|
NACHT,
leucine rich repeat and PYD containing 11|PYRIN-containing APAF1-like protein
6 |
NALP11|PYPAF6 |
|
19 |
61035444 |
0.36 |
0.41 |
0.4 |
0.39 |
hCV1875181 |
GCTCATGGGGCATCTGACCAAGAACCTCCAAAACAATTGA[T/C]TTAGGCAGTGCCGGGGGAAAGAAGTTTTCCACCAATAATC |
C |
C |
C___8877043_10 |
rs369887 |
|
NACHT,
leucine rich repeat and PYD containing 11|PYRIN-containing APAF1-like protein
6 |
NALP11|PYPAF6 |
|
19 |
61043979 |
0.26 |
0.43 |
0.38 |
0.32 |
hCV8877043 |
CTGGTAATTTGAGCCCTGTGGTTATGCAGCATCTAGATTT[G/C]TCACCAATGTTTTGGCTTGGGGTCTGCTTTTCTGGTATCA |
G |
G |
C___8878779_10 |
rs436488 |
|
NACHT,
leucine rich repeat and PYD containing 4|PYRIN-containing APAF1-like protein
4 |
NALP4|PYPAF4 |
Intron |
19 |
61056102 |
0.19 |
0.41 |
0.18 |
0.14 |
hCV8878779 |
GGGTCACCAATGATTTTTACCCTAAGCTGAGAACTTGCAG[T/C]CAAGCCAGAAACTCTGTGAGGTGAAGTCGTTGCATAAGAA |
C |
C |
C___1875242_10 |
|
|
NACHT,
leucine rich repeat and PYD containing 4|PYRIN-containing APAF1-like protein
4 |
NALP4|PYPAF4 |
Intron |
19 |
61062570 |
0.32 |
0.26 |
0.5 |
0.41 |
hCV1875242 |
CATTTTTTCTGCCACAAAACCTCAGCTCACATCCTGGCCC[A/G]ACATTTTAGGAGCTCTTAGACTTTGTCTGTGAGCCTTGCC |
A |
G |
C___1875262_10 |
|
|
NACHT,
leucine rich repeat and PYD containing 4|PYRIN-containing APAF1-like protein
4 |
NALP4|PYPAF4 |
Intron |
19 |
61069619 |
0.17 |
0.36 |
0.43 |
0.44 |
hCV1875262 |
GGCGTGAGGAGCCATGGACTCGGTGACTTGCCAATTCCAC[A/G]TTTATTTCTGGACAACTCCCATAATGGCTTTCATCTTTAT |
A |
G |
C___1875270_10 |
rs2043690 |
|
NACHT,
leucine rich repeat and PYD containing 4|PYRIN-containing APAF1-like protein
4 |
NALP4|PYPAF4 |
Intron |
19 |
61075463 |
0.41 |
0.42 |
0.22 |
0.13 |
hCV1875270 |
ACTAGTACTGAACAGATGCCTGAAAGAAACAAGAGCAAAT[T/C]GTCTCAGGAGGTAGGTAATAGGATGACATGATCCTTGACC |
T |
T |
C___1036683_10 |
rs304002 |
|
NACHT,
leucine rich repeat and PYD containing 13 |
NALP13 |
Mis-sense
Mutation |
19 |
61115066 |
0.48 |
0.3 |
0.43 |
0.43 |
hCV1036683 |
GACCCAACATCTTCTTTGTGAAGTCTTCCTCCTGGGACTC[A/G]TGTAGGCAGTGAAAAAGTCGTAGAATGTGAAATTGGAGAG |
G |
A |
C___2092172_10 |
rs303995 |
|
NACHT,
leucine rich repeat and PYD containing 13 |
NALP13 |
Intron |
19 |
61117042 |
0.3 |
0.24 |
0.21 |
0.4 |
hCV2092172 |
GTGTGCCCACTCCATTGCCTGACCAGCTCAGCACCCCAAA[A/G]ACACCTTCTAGCCAGTAGAGGGGGCCCATGAGCCCTCTTC |
G |
G |
C___8110296_10 |
rs387114 |
|
NACHT,
leucine rich repeat and PYD containing 5|NACHT, leucine rich repeat and PYD
containing 8|maternal-antigen-that-embryos-require |
NALP5|NALP8|MATER |
|
19 |
61144642 |
0.39 |
0.23 |
0.08 |
0.06 |
hCV8110296 |
TGTGTGCATACCCATGGGAGCACTCCATGATGAGAACACT[C/A]AGGGGTGGTTAGAACTTAGGCTTATATGTCATGCTAACAA |
C |
C |
C___8110253_10 |
|
|
NACHT,
leucine rich repeat and PYD containing 5|NACHT, leucine rich repeat and PYD
containing 8|maternal-antigen-that-embryos-require |
NALP5|NALP8|MATER |
Intron |
19 |
61165457 |
|
|
0.49 |
0.45 |
hCV8110253 |
TGAGTATAACACAAATCCCACTGGAAGGAACTTTATGGAG[A/G]TGGTCTGTTTCCCATCCACTTTCTTCATTCCCTCTCCACT |
A |
A |
C___8110157_10 |
rs306481 |
|
NACHT,
leucine rich repeat and PYD containing 5|NACHT, leucine rich repeat and PYD
containing 8|maternal-antigen-that-embryos-require |
NALP5|NALP8|MATER |
Mis-sense
Mutation |
19 |
61179415 |
0.44 |
0.37 |
0.39 |
0.29 |
hCV8110157 |
AAAACCCTGAAAAGTCTTGACCTAAGTTTTAATAGCCTGA[A/G]GGATGATGGGGTGATCCTGCTGTGTGAGGCCCTGAAGAAC |
A |
A |
C___8878420_10 |
rs388295 |
|
NACHT,
leucine rich repeat and PYD containing 5|NACHT, leucine rich repeat and PYD
containing 8|maternal-antigen-that-embryos-require |
NALP5|NALP8|MATER |
Intron |
19 |
61235622 |
|
|
0.06 |
0.08 |
hCV8878420 |
CCCCTCGGGTATCGGTATATCCGGGAGGCAGGGTGGACAC[A/C]GGGCTAGTCATGCAAAGTGTGATGGCAGCCGCTAAGTTGC |
A |
A |
C___1936862_10 |
rs2867224 |
|
NACHT,
leucine rich repeat and PYD containing 5|NACHT, leucine rich repeat and PYD
containing 8|maternal-antigen-that-embryos-require |
NALP5|NALP8|MATER |
Intron |
19 |
61254854 |
0.35 |
0.24 |
0.21 |
0.21 |
hCV1936862 |
ATTGTGTCTGAGGATATGTCTATTATAATAAATGAAGTAC[C/A]GTAAGGTATTCCATTGAATGGTGTAGGCTTTAAAAATCTC |
C |
C |
C___8878350_10 |
rs386127 |
|
NACHT,
leucine rich repeat and PYD containing 5|NACHT, leucine rich repeat and PYD
containing 8|maternal-antigen-that-embryos-require |
NALP5|NALP8|MATER |
Intron |
19 |
61257045 |
|
|
0.41 |
0.38 |
hCV8878350 |
TCTTTGCGGGCCGGGCTGGGAGGAGGTGGGGGACCCCAGC[A/T]TGAGGTTGCTTGAACAGGGATGATGATGATCTGGTTTCCA |
T |
T |
C___1936733_10 |
rs884493 |
|
NACHT,
leucine rich repeat and PYD containing 5|NACHT, leucine rich repeat and PYD
containing 8|maternal-antigen-that-embryos-require |
NALP5|NALP8|MATER |
|
19 |
61269389 |
|
|
0.27 |
0.27 |
hCV1936733 |
TAGTTTTTCGTTTTGTCTTGTTGTTTGTTTTTAACATTTG[T/C]ACCACGGGGAGGGAAGAGCATCAGGAAGGCAACGGACCCG |
C |
C |
C___1936767_10 |
|
|
|
|
|
19 |
61293110 |
0.21 |
0.29 |
0.37 |
0.32 |
hCV1936767 |
ATGGGCTTGCCTCCTCCCCAGCTCATTCACTCCTGAGAAG[A/G]GTCCGTGTGCAGCTTCTACATTTGCTCTCCCTTGGGGCCT |
A |
A |
C____947002_10 |
rs540900 |
|
|
|
|
19 |
61294186 |
|
|
0.25 |
0.26 |
hCV947002 |
AGTATTCGAATATGGCTCTTGAACCTGCGGCAGAAGAAAA[C/A]ACTCCAGGTGAAGTCAGGAAGGGGGGAGCCTTCTGGAGAG |
C |
C |
C____947021_1_ |
rs588574 |
|
|
|
|
19 |
61306797 |
|
|
0.28 |
0.27 |
hCV947021 |
GGAGAACATGTTACTGTCAAGCGTACACAAGACAGTGTAC[G/A]TGTGGTGCTCATGCCAAACAGGGACTGGAGTTCCCACACC |
A |
A |
C___1936808_10 |
rs744309 |
|
|
|
|
19 |
61321904 |
0.22 |
0.29 |
0.39 |
0.41 |
hCV1936808 |
TCTCACACCACAGAGGCCCCAGCACCTGGCACAGTCCTCA[C/G]TAGGCTGGAGGCCTCAGGATGCACCAGAGGACACACGAAC |
G |
G |
C___1936816_10 |
rs659424 |
|
|
|
|
19 |
61329303 |
|
|
0.29 |
0.29 |
hCV1936816 |
GAGAGTTTGCAGCTGTTGAAGTACAATTGCTTCGAAGTCC[G/T]TGATACACAGAGAAACGCACACAATCACACTTTTCAAATG |
T |
T |
C____947062_1_ |
|
|
|
|
|
19 |
61330839 |
0 |
0.14 |
0.31 |
0.31 |
hCV947062 |
GAGAGGACGGAAGGGGTGCTCTATTCTCCCTTCAGGACAG[C/A]CTGGGTACAGTGACTGCAGACAAGGGTGGGTGCCCAGAGC |
A |
A |
C___1936826_10 |
rs599405 |
|
|
|
|
19 |
61333547 |
0 |
0.05 |
0.3 |
0.29 |
hCV1936826 |
TTAGAAAAATCAAAACATGAATGAGGTGCGGATTTGTACA[A/G]TTTCCCCGATGTGACTTTCACAGCACAGTTATAAAGAGGG |
G |
G |
C__11460881_10 |
rs665082 |
|
zinc
finger protein 444|endothelial zinc finger protein 2 |
ZNF444|EZF-2 |
|
19 |
61335967 |
|
|
0.28 |
0.29 |
hCV11460881 |
TCCAAGGAATTCTTCTCTGCCTTGGCAGTGAGGGTAAGGT[G/C]AGCTTGACTCGCTCCTCCTGTAGGCCCTGCTCACTCTCTG |
G |
G |
C___8936534_10 |
rs901476 |
|
zinc
finger protein 444|endothelial zinc finger protein 2 |
ZNF444|EZF-2 |
Intron |
19 |
61356351 |
0.13 |
0.1 |
0.41 |
0.26 |
hCV8936534 |
GGGGCAGGCTCTTCCATTTGGGGGAGAACAGGGGACATTT[G/A]GGAATCACAGCCTCCATGGTTCTAAGGACTGTTCCCATCT |
A |
A |
C___1936831_10 |
|
|
zinc
finger protein 444|endothelial zinc finger protein 2 |
ZNF444|EZF-2 |
Intron |
19 |
61357963 |
0.45 |
0.42 |
0.18 |
0.27 |
hCV1936831 |
CACGAGGATGCTTCATCCTTAGGGGATCCTCAGCAGAACA[G/T]CAGCAGCTTGATCCCACAGTGGGTGGACAGGCCTATGCAC |
G |
G |
C____947099_10 |
rs274148 |
|
zinc
finger protein 444|endothelial zinc finger protein 2 |
ZNF444|EZF-2 |
|
19 |
61366115 |
0.12 |
0.42 |
0.37 |
0.45 |
hCV947099 |
TCCTGCCCCACTCTTTTGTGTCACTCAAGATGGACAGTCC[C/T]GGATGGATTGGAGGATGCTGGAAGAACACCCCTGCAAAGG |
C |
C |
C__11702927_10 |
|
|
zinc
finger protein 495|hypothetical protein MGC4161 |
ZNF495|MGC4161 |
Mis-sense
Mutation |
19 |
61425237 |
0.36 |
0.02 |
0.16 |
0.13 |
hCV11702927 |
GGCTTCTTGGCCATCCGGGTGACTGACTGGGCTCGCAGGG[C/A]CTGGGGAATGAATTGAATTCATCCCAGCTTGTCCCGGGGA |
A |
A |
C___8936377_10 |
rs892180 |
|
zinc
finger protein 495|hypothetical protein MGC4161 |
ZNF495|MGC4161 |
|
19 |
61437316 |
0.27 |
0.25 |
0.19 |
0.14 |
hCV8936377 |
TGTCAGTAGGAGAGGAGGTGTGTGGGATAGCAGCCAATTC[G/C]TCAGTGAATGAGGCAGAGAAATTGGTAAAAAGAAGGAAAG |
G |
G |
C___8936375_10 |
rs873733 |
|
zinc
finger protein 495|hypothetical protein MGC4161 |
ZNF495|MGC4161 |
|
19 |
61437381 |
0.15 |
0.09 |
0.19 |
0.31 |
hCV8936375 |
GTAAAAAGAAGGAAAGTGAAAACAAGAAGCATGTTCCCAT[C/T]TTCAAGGTCTTCCTGGTTCACAAAGTGGGAAGGAAGAAAC |
C |
C |
C__11460940_10 |
rs1036243 |
|
zinc
finger protein 495|hypothetical protein MGC4161 |
ZNF495|MGC4161 |
|
19 |
61442497 |
0.33 |
0.47 |
0.48 |
0.34 |
hCV11460940 |
GAATGAGCCACAATTTGAATGGATTTGCGAGTCAGTCAGC[A/G]GATGCTGCGAACTTCCCAAATTGTAACCTAATCATGTAAT |
A |
G |
C___9982982_10 |
rs2033489 |
|
zinc
finger protein 495|hypothetical protein MGC4161 |
ZNF495|MGC4161 |
|
19 |
61460027 |
0.34 |
0.1 |
0.31 |
0.42 |
hCV9982982 |
GAAGGGCTGTTGATGAAGCAGAAGAAATGTTTGAGAAGCA[T/C]TGGAAAAATCCGGAGCCACCTGTTTTGCGATGGATTATCT |
T |
T |
C___9982978_10 |
|
|
zinc
finger protein 495|hypothetical protein MGC4161 |
ZNF495|MGC4161 |
|
19 |
61466373 |
0.48 |
0.16 |
0.22 |
0.3 |
hCV9982978 |
CTTCTTCCAAGAAGATTGCCCACATACTCAACATTTAGCA[G/T]TGGGCTTCTGGAATGTGGTGATATCTAAGGTTCTTCCAGC |
G |
G |
C__11460954_10 |
rs2058320 |
|
zinc
finger protein 583|hypothetical protein FLJ31030 |
ZNF583|FLJ31030 |
|
19 |
61607136 |
|
|
0.08 |
0.04 |
hCV11460954 |
CCTCTCCAGCTGGCTCAGGCTCCACACTGGTCCTCCAGCT[C/T]CCTTTTCTCAGCGATGGACTCACAGCCCCACCCGGAGCGC |
T |
T |
C___2658072_20 |
rs2288863 |
IMS-JST040228 |
zinc
finger protein 583|hypothetical protein FLJ31030 |
ZNF583|FLJ31030 |
Intron |
19 |
61610410 |
0.15 |
0.08 |
0.06 |
0.03 |
hCV2658072 |
TGTTTTTCTTCCAAAATTCTGCAACCTAATAAGGTTCCAT[T/C]CATCCAGTGACTCGTTCCTCATATCTTGCTTTCCAGTAAA |
T |
T |
C___2658085_10 |
rs917651 |
|
zinc
finger protein 583|hypothetical protein FLJ31030 |
ZNF583|FLJ31030 |
Intron |
19 |
61625676 |
|
|
0.16 |
0.09 |
hCV2658085 |
AGTTTTACATGTATCCTAATAAGGATATTAATACTGCCTA[C/G]TGTTGTTTTTAGGCCTGGGATTCCAATGGAGTTTTTAATC |
C |
C |
C___2658091_10 |
|
|
zinc
finger protein 583|hypothetical protein FLJ31030 |
ZNF583|FLJ31030 |
|
19 |
61633541 |
|
|
0.16 |
0.09 |
hCV2658091 |
TACATATTACTTGGCTCTGGCTCTTCAGAGAATAACAAAT[G/A]TTGGTAGTAATGCAATGCTATTTTATTTTATACATTTAGA |
G |
G |
C___2658106_10 |
rs3760850 |
|
hypothetical
zinc finger protein FLJ14011 |
FLJ14011 |
Silent
Mutation |
19 |
61645084 |
0.01 |
0.14 |
0.42 |
0.35 |
hCV2658106 |
TTAGATGCAGAATAAGGGTTGAAAGCCGCCTGAAGAACTT[G/A]TCACATTTATCACATTTGTACGGTTTCTCTGAAGTGTGAA |
A |
A |
C___2658107_10 |
rs3760849 |
|
hypothetical
zinc finger protein FLJ14011 |
FLJ14011 |
Mis-sense
Mutation |
19 |
61645397 |
0.42 |
0.48 |
0.16 |
0.09 |
hCV2658107 |
TTTCTTATGAAGTAAAAGGGATGACATCTGATTGAAGGCT[C/T]TTCCGCACTTTCTGCACTGGCAGACATTCCCAACAACATG |
T |
T |
C___2785901_10 |
|
|
hypothetical
zinc finger protein FLJ14011 |
FLJ14011 |
Intron |
19 |
61650561 |
0.41 |
0.35 |
0.16 |
0.09 |
hCV2785901 |
AACAATTCACGAGAATAAGTAAAAACAGAAAACAAATGCT[A/G]GTAAATCTACAAGAAAGATTTATGGCCTATCCAGTATGGG |
G |
G |
C___2785920_10 |
|
|
hypothetical
zinc finger protein FLJ14011 |
FLJ14011 |
Intron |
19 |
61669604 |
0.38 |
0.38 |
0.14 |
0.09 |
hCV2785920 |
GGATCCAGCGAACAGTCATTCTGCAACAGATGGAGTTGAG[A/G]TGGGCACATGATCAATGTCCTGGCCCCAATGGGAGGCAGC |
A |
A |
C___2785921_10 |
|
|
hypothetical
zinc finger protein FLJ14011 |
FLJ14011 |
Intron |
19 |
61670337 |
0.41 |
0.36 |
0.29 |
0.24 |
hCV2785921 |
GGGCCTCTAATTAGCACTGTGTGCCATGCCGGCCACATCA[G/T]GCTAAGGGGAATACTTGACTTCATCTGCCTGGGAATGGGG |
G |
G |
C___2563774_10 |
|
|
|
|
|
19 |
61685653 |
0.4 |
0.31 |
0.18 |
0.16 |
hCV2563774 |
AGTCCTAATGGTTGCTATTTCTGCTGTACTAATCAAAGGC[C/T]AGAGGTACTGCACATGGCAGGGCATTCTTCTGCACCTATA |
C |
C |
C____349368_10 |
|
|
|
|
|
19 |
61688204 |
0.06 |
0.25 |
0.41 |
0.45 |
hCV349368 |
GAGCATGTTTAGGCTTTATTACAGGGTCTCAGATGAAGGT[C/T]TGACCTGTAATAAGTCACATGTCTGCCCTCTGTTTTTCTC |
T |
C |
C___2563796_10 |
|
|
|
|
|
19 |
61699803 |
0.38 |
0.22 |
0.28 |
0.42 |
hCV2563796 |
GTGGTACAATCTGATCTCAGCTGGGATAAACCAAGAAACG[A/G]AATCAGCAACCTCATGCCATGTTGGTGGGCATTTGAAAGG |
G |
G |
C___2563812_10 |
|
|
zinc
finger protein 471 |
ZNF471 |
|
19 |
61711837 |
0.23 |
0.31 |
0.01 |
0.06 |
hCV2563812 |
CGAGACTAGACTGTGCAAGAACAGAGTGTGAGACTGTGGT[A/G]TGTTAATGTGTGAAAGGGAGACCAGTGAGTGTGAGAAATG |
G |
G |
C___2563815_10 |
|
|
zinc
finger protein 471 |
ZNF471 |
|
19 |
61719418 |
|
|
0.2 |
0.18 |
hCV2563815 |
GTAGAGACACTTTGGATCAACTCAGAGTTATCTTTGGACA[C/T]GAGCATTGGTTGGTTAAGAATATATTTGTCACTTCAGGAC |
T |
T |
C___2563817_10 |
|
|
zinc
finger protein 471|zinc finger protein 471 |
ZNF471|ZNF471 |
Intron |
19 |
61721649 |
0.3 |
0.21 |
0.4 |
0.45 |
hCV2563817 |
GTTCTGAAATAACCCAAAACATGACCAATTTTCATGTCTT[G/T]TTTTTATATGTAGGTCTTTGCATTTCTAAGCCATATGTGA |
T |
G |
C___3275376_1_ |
rs3752176 |
|
zinc
finger protein 471|zinc finger protein 471 |
ZNF471|ZNF471 |
Mis-sense
Mutation |
19 |
61728465 |
0.34 |
0.46 |
0.2 |
0.19 |
hCV3275376 |
CATAGGAGAATTCATACAGGAGAGAAACCTTACAAATGTG[G/A]TGTGTGTGGAAAAACCTTCAGCTCGGGTTCATCCCGTACT |
A |
A |
C___2588506_10 |
|
|
zinc
finger protein 28 homolog (mouse) |
ZFP28 |
Intron |
19 |
61743206 |
0.32 |
0.42 |
0.33 |
0.47 |
hCV2588506 |
TCTGATGGAGGAATTGTGCCCCTTGAGGAACACGGCAGAC[T/C]CTTCTGCTATACATGGTTTGTTTGGTGACCACTTTGTGCC |
T |
T |
C___2588514_10 |
|
|
zinc
finger protein 28 homolog (mouse) |
ZFP28 |
Intron |
19 |
61749068 |
0.32 |
0.47 |
0.34 |
0.48 |
hCV2588514 |
AGGCTTCATGCAGAAGGACAGTAGTCATTTCATAGTATGG[G/A]GCCTTTTCTATCTAGAACACACAAATGGGGACTGGGTGAG |
G |
G |
C___2588517_10 |
rs2159162 |
|
zinc
finger protein 28 homolog (mouse) |
ZFP28 |
Intron |
19 |
61751899 |
0.31 |
0.45 |
0.33 |
0.48 |
hCV2588517 |
TCTGCTAAAAACATAATGTGAACTCTTATTCAACTTTTAG[G/C]TGGGAAAGGTCTTATTGTGGCCTTTAGGACTATGGCTACA |
G |
G |
C___2273737_1_ |
rs145011 |
IMS-JST002597 |
zinc
finger protein 28 homolog (mouse) |
ZFP28 |
Silent
Mutation |
19 |
61757001 |
0.33 |
0.06 |
0.3 |
0.34 |
hCV2273737 |
GTTCCAGTTTCAGAGAAAATTGGGATTCTGACTATGTGTT[T/C]GGAAGGAAGCTTGCAGTAGGTCAAGAGACACAATTCAGGC |
C |
C |
C___2677490_10 |
|
|
zinc
finger protein 28 homolog (mouse) |
ZFP28 |
|
19 |
61764233 |
0.3 |
0.34 |
0.29 |
0.2 |
hCV2677490 |
AAGTGTATTTTCAGGGTTAGAAATTACTTTGCGTAATATA[T/G]ATGGACTGAAAGAATTCAGAAGTTTATAATGCTGGATTGG |
T |
T |
C___2677491_10 |
|
|
zinc
finger protein 28 homolog (mouse) |
ZFP28 |
|
19 |
61766244 |
0.3 |
0.27 |
0.29 |
0.19 |
hCV2677491 |
AATTCCTTTATTAGGTCACATGGCCTGGGATAATTATCCA[T/C]CATCTGAACTCTTGGTTCTGCCCTCTGAATCCTTTTTTCC |
T |
T |
C___2677508_10 |
|
|
|
|
|
19 |
61777581 |
0.29 |
0.27 |
0.3 |
0.17 |
hCV2677508 |
CTGAGTGAGCAAGATCATATTTGTGTCATTTTAGGGTTCA[C/G]TGACTTTCACAGATGTGGCCATAGACTTTTCCCAAGATGA |
C |
C |
C__25745603_10 |
rs4801177 |
|
|
|
|
19 |
61780862 |
|
|
0.28 |
0.33 |
hCV25745603 |
GCTTTCACTGATCACATAGGACTTATTCAGCATAAGAGAA[T/C]TCATACTGGAGAGAGACCTTACAAATGTAATGTGTGTGGG |
C |
C |
C___2677528_10 |
rs2904241 |
|
zinc
finger protein 71 (Cos26) |
ZNF71 |
|
19 |
61791289 |
|
|
0.29 |
0.17 |
hCV2677528 |
ATGCACATACTAATTTGGAAACAGGTAAAACAGACATAAG[A/G]GTTTTATTTGTAGGGGGAGGGTCTGTAAAGTTAATTATGT |
G |
G |
C___2310110_10 |
rs714082 |
|
zinc
finger protein 71 (Cos26) |
ZNF71 |
Intron |
19 |
61816940 |
0.27 |
0.49 |
0.34 |
0.41 |
hCV2310110 |
CCTCCCCTAAATCCTCTTGGCTTTTCTGGCCATTCCTCCA[C/T]GCCTCTGTAAGGAGGGCCCTGCGATGAGCGGATGTGGGTT |
C |
C |
C__15872467_10 |
rs2241112 |
|
zinc
finger protein 71 (Cos26) |
ZNF71 |
|
19 |
61827558 |
0.14 |
0.13 |
0.14 |
0.32 |
hCV15872467 |
|
#N/A |
#N/A |
C____348665_10 |
|
|
|
|
|
19 |
61852263 |
0.39 |
0.37 |
0.19 |
0.1 |
hCV348665 |
GAAATAAGTGCTGGGCACAGTGGAGTGGCCCAAAGGAAGA[A/C]GTTAACTGCATGCCAGGAGGTTTATTCTTGGATATCCCAG |
A |
A |
C___2677620_10 |
|
|
|
|
|
19 |
61865129 |
0.3 |
0.32 |
0.44 |
0.45 |
hCV2677620 |
TTAACTTTATAAATTGTGGACTACATGAGTGTATTCCCCC[A/G]TAAAATAATTTTCCAATGATTATAGTCATGTGAAGTTATG |
A |
G |
C___2657726_1_ |
rs2302375 |
IMS-JST058713 |
|
|
|
19 |
61909928 |
0.43 |
0.26 |
0.19 |
0.3 |
hCV2657726 |
CAGACAGTCTGGCTCCAGCCACCTTGGCGTTTCACCTTCC[C/G]TGTATTGAATAAAGTTCAGGACCTTTGCAGGTGCAGCTCC |
C |
C |
C___2657747_10 |
rs4801364 |
|
|
|
|
19 |
61915628 |
0.4 |
0.3 |
0.1 |
0.27 |
hCV2657747 |
GAGCTATGTGCCTGTTGGGCACTGCACGACTTCTCACACT[C/T]TGGAATCAGCCTGGAAAATGTCATCCTCAGTTCCTTGTCT |
T |
T |
C__11460827_10 |
rs2041397 |
|
|
|
|
19 |
61922814 |
0.4 |
0.16 |
0.27 |
0.09 |
hCV11460827 |
CAATTTGGTCATGTCCTGCCCACAGCCCCACATAAAGATG[G/A]GTTAGGTGTGTGTTTCTCACATCAACAGCCCCTTAGCATG |
A |
A |
C___2657791_10 |
|
|
|
|
|
19 |
61951448 |
0.24 |
0.1 |
0.25 |
0.17 |
hCV2657791 |
GAGACTTCCCTCTCTGAGCCCAGTATTTTCCGCCATAAAA[T/C]GCAGGCACTTGTAGGTCTCACTCACAACCAGGGCTGTGGG |
C |
C |
C__16180574_10 |
rs2286750 |
IMS-JST037400 |
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
Intron |
19 |
61982545 |
0.17 |
0.02 |
0.4 |
0.38 |
hCV16180574 |
AGCATTTACTGGTTCCCCCTCCTACACCCCGGGCTTCCCC[A/C]TCACTACTCACCTTGACAAATCACTGTATGTCTGCTGTCT |
A |
A |
C____474528_10 |
|
|
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
Intron |
19 |
62004792 |
|
|
0.39 |
0.37 |
hCV474528 |
ATTCAGAATAGTTTCAGACCCATGACCTCAACTGGGCAGA[T/C]GTCCAGTCCCTTTTAATATTCTCCTCAGTGAAACAGAAAA |
C |
C |
C___2657832_10 |
|
|
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
Intron |
19 |
62010486 |
0.24 |
0.13 |
0.12 |
0.13 |
hCV2657832 |
TTCAAGATGACAGGCAAATGACCAACGTATCCCTTTATGC[A/G]CTTCCTCATGATGGGATGAGGGAAAAAATAGAATAAAGAA |
A |
A |
C____344000_10 |
rs3143 |
|
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
Intron |
19 |
62015419 |
0.41 |
0.41 |
0.5 |
0.5 |
hCV344000 |
GGGGAGGGGAAGCAAAGGAGCACAGGTAGTCCACAGAATA[G/A]GACACAAGAAACCTCAAGCTGTGAGGTCAATTTGTAATTA |
A |
A |
C___8936118_10 |
rs1055359 |
|
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
IntronUTR
3 |
19 |
62016152 |
0.15 |
0.28 |
0.38 |
0.37 |
hCV8936118 |
ATTGTAAAGCCTTACACAGTATTAGGTTCCAAAGTGTTGG[C/T]GCAGATGAAATGGCTGCAGAAAGAAGCTAAAGTACTTATC |
C |
C |
C__15757536_10 |
rs2191432 |
|
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
Mis-sense
MutationMis-sense Mutation |
19 |
62021849 |
|
|
0.2 |
0.26 |
hCV15757536 |
|
#N/A |
#N/A |
C____335372_10 |
|
|
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
IntronIntron |
19 |
62023724 |
0.17 |
0.28 |
0.38 |
0.39 |
hCV335372 |
TCTTCCTATATCCCAGCCACCTGGCCCTTGGTTTGGTTCC[T/C]ATCCCACAACTTTAGCTGAGCTCTCCCTAATGCCTGGGGT |
C |
C |
C___2657840_10 |
rs1860565 |
|
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
Silent
MutationSilent Mutation |
19 |
62026834 |
|
|
0.07 |
0.16 |
hCV2657840 |
GTGGTGAGGACTCTCTTCTGTTCCGGGTCATGTCGTCGTC[A/G]CTGGTCACGTCACTGTTGTTGTCGTCTAAGAGGACACCGG |
A |
A |
C___2657843_10 |
rs2870477 |
|
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
IntronIntron |
19 |
62036725 |
0.17 |
0.27 |
0.42 |
0.4 |
hCV2657843 |
TGCCCGACACTCAGTGTCCCTTCATCCAAATTCTCAGTAT[T/G]AAAGTGCATGCTACAGCCTGATTCCTTCTAGGGCAGTGGT |
T |
T |
C___2303755_10 |
rs758752 |
|
zinc
finger, imprinted 2|paternally expressed 3 |
ZIM2|PEG3 |
IntronIntron |
19 |
62042009 |
0.18 |
0.21 |
0.43 |
0.4 |
hCV2303755 |
GCGCGGCACTCCACAGCTTTCCATCACCGCAAGGCAGGCA[A/G]GCACAGCAACCGTGGCCCCGCCCCTCCCTGTGGACAACCC |
A |
A |
C___1465414_10 |
rs1027392 |
|
ubiquitin
specific protease 29|zinc finger, imprinted 3 |
USP29|ZIM3 |
Mis-sense
Mutation |
19 |
62332958 |
0.35 |
0.3 |
0.13 |
0.1 |
hCV1465414 |
AAAAAAGTCATTTCAGCAGTTGCAGAAATATTTTCTGGCA[A/G]CATGCAGAATGATGCTCATGAGTTTTTAGGTCAGTGTTTA |
A |
A |
C___1465415_10 |
rs3795003 |
|
ubiquitin
specific protease 29|zinc finger, imprinted 3 |
USP29|ZIM3 |
Mis-sense
Mutation |
19 |
62333611 |
|
|
0.32 |
0.35 |
hCV1465415 |
GATCAACAGCCCATTGACACCATCAATGAAGCTGACCTCA[A/G]AATCCAGTGATTCCCTGGTTCTACCCGTTGAACCAGACAA |
A |
A |
C___2580945_10 |
|
|
zinc
finger protein 264 |
ZNF264 |
Intron |
19 |
62395377 |
0.32 |
0.13 |
0.28 |
0.37 |
hCV2580945 |
CTTCCTCTGGGGACTCCCATCATCCTTGGCCTGCAAGCAT[T/C]CTCTGGTGGACCAGGTCTCATTCCAGCATGAATTGGGGGC |
C |
C |
C___2580968_10 |
|
|
zinc
finger protein 264 |
ZNF264 |
Intron |
19 |
62410427 |
0.33 |
0.12 |
0.28 |
0.34 |
hCV2580968 |
GTCAACCCCTCCACCTCCATGAGTCCCTGCATCCAGCCAA[C/G]TAGACAGTTTTTGTCTCCAGGCACAGATGTCTCAGCATGT |
C |
C |
C___2580976_10 |
|
|
zinc
finger protein 264 |
ZNF264 |
Intron |
19 |
62413992 |
0.41 |
0.43 |
0.19 |
0.18 |
hCV2580976 |
CTGAGTCATCTCTTCAGGATAAACTGTGGAGGACTCCATA[A/G]TGAGTTCCCCGTTTGCATAAACTGTCAGATAGGGCCATTG |
A |
A |
C__11701008_10 |
|
|
zinc
finger protein 264|aurora kinase C|serine/threonine kinase 13
(aurora/IPL1-like) |
ZNF264|AURKC|STK13 |
|
19 |
62427892 |
0.19 |
0.03 |
0.34 |
0.44 |
hCV11701008 |
CCAGGCGTTTGAGGGACCATTGTGTTAGCAAAATCTCAAC[G/C]ATCTGAGGGGTTGGGGTTTTTAGGAAGGTAGCTCCTGATG |
G |
G |
C___2581008_1_ |
rs758099 |
IMS-JST002032 |
aurora
kinase C|serine/threonine kinase 13 (aurora/IPL1-like) |
AURKC|STK13 |
Intron |
19 |
62435146 |
0.27 |
0.23 |
0.28 |
0.32 |
hCV2581008 |
GCAGAGGAAGGATACAATGAAAGAGGAAGGGGAGCATTGG[T/C]ATCCCTGACTTTCCCTCCGCCTACCCTACCTCCCAAGCTG |
C |
C |
C___2581009_1_ |
rs2074859 |
IMS-JST002033 |
aurora
kinase C|serine/threonine kinase 13 (aurora/IPL1-like) |
AURKC|STK13 |
Intron |
19 |
62435578 |
0.27 |
0.22 |
0.28 |
0.32 |
hCV2581009 |
CTACCCTGGGTCAGACACTCGAATCCTGGTTCCTGTTCTC[C/T]GTTCTCCCCTCACTTGCTCCCAGATAGGGCTGTTGTTATT |
C |
C |
C___2581024_10 |
|
|
aurora
kinase C|serine/threonine kinase 13 (aurora/IPL1-like) |
AURKC|STK13 |
|
19 |
62445743 |
0.48 |
0.49 |
0.1 |
0.14 |
hCV2581024 |
TCATGACCACAGCCTGCATTATCTTCAGCCACTTGAGTTT[T/C]CTGGTCCTGAAGCACACTGGCCTTAGGGATACCTGCTGGC |
C |
C |
C___2581087_10 |
|
|
|
|
|
19 |
62488531 |
0.32 |
0.49 |
0.28 |
0.38 |
hCV2581087 |
CTGGCTTCCCTTTATGGGTCTGCTCCTGTCACTGTCTTTT[T/C]ATAATGGCTTTTTCTGGCTCAGCTATTGTGTGGAACGAAG |
C |
C |
C____349028_1_ |
rs3746227 |
|
|
|
|
19 |
62496336 |
0.5 |
0.32 |
0.16 |
0.21 |
hCV349028 |
GGAGTCCTAATTCTTCCCTCTGATTGTGGTTTCTCAGCTT[C/T]TTTACTGCTCTTTAGAGAGAGTAAATAGTTCAAAATTCAC |
C |
C |
C__11460162_10 |
rs1859955 |
|
|
|
|
19 |
62514181 |
|
|
0.16 |
0.22 |
hCV11460162 |
GGAAAACTGTAGGGCATTGTGAGACTGATCTTGTGACCTG[A/G]ATGTCAGGATCTCTGTGAGCCCTAAGCTCACCCTCATGAG |
A |
A |
C___2581136_10 |
|
|
|
|
|
19 |
62527606 |
|
|
0.29 |
0.27 |
hCV2581136 |
TTTGTTTCATAGGGCTAGTGTGAGGGCAAATGGTTCAGTA[G/C]AGTGTGTTGTGATAGGTGGCTGGGCGCAGGTTAGCAATTG |
C |
C |
C___2581181_10 |
|
|
zinc
finger protein 304 |
ZNF304 |
|
19 |
62546749 |
0.36 |
0.34 |
0.02 |
0.06 |
hCV2581181 |
TTTGAGGTTAAGAGAAAAGGTAGTGATTATAATCAGAAAA[T/G]CTAGAGTGGGTGTAATTACCTCCAGAACTCACTACTGTTA |
G |
G |
C___3275306_1_ |
rs3746226 |
|
zinc
finger protein 304 |
ZNF304 |
|
19 |
62554317 |
0.37 |
0.36 |
0.02 |
0.06 |
hCV3275306 |
GGAGAACCCGAAAGGCGCTCGTTGCCTGGTTGGATGCAGG[A/G]TACAAACTACGTTACCCAGAAATCTGTGCCCAGCTCATTG |
A |
A |
C___3275311_10 |
|
|
zinc
finger protein 304 |
ZNF304 |
Intron |
19 |
62556300 |
0.13 |
0.06 |
0.14 |
0.02 |
hCV3275311 |
ATCTTCAAATCATGGTGGTAATGCTGTTATTCAGTAAGAA[G/A]GTTGAAACTGGACACTGAGAGAAAACTGGGTCTGTTGCTT |
G |
G |
C___3275313_10 |
rs862707 |
|
zinc
finger protein 304|zinc finger protein 547|hypothetical protein FLJ31100 |
ZNF304|ZNF547|FLJ31100 |
Intron |
19 |
62558685 |
0.14 |
0.27 |
0.26 |
0.23 |
hCV3275313 |
AGTGTTTTGTTGCCAAGGCCCATAGTGATTCTTCACATCT[A/G]CTTTACTTTCCTCATTCTTGGCACTTTTTCCATTTGTCAT |
G |
G |
C___8936042_1_ |
|
|
zinc
finger protein 304|zinc finger protein 547|hypothetical protein FLJ31100 |
ZNF304|ZNF547|FLJ31100 |
Silent
Mutation |
19 |
62559411 |
|
|
0.12 |
0.21 |
hCV8936042 |
CAGGGATCACACCTTACACAGAAACTGTGCACACGTGGGC[C/T]GTGTAGGAGAAGATTCTCGTTCAGTGCAAACTTTTACCAG |
C |
C |
C__15777116_10 |
rs2361119 |
|
zinc
finger protein 547|hypothetical protein FLJ31100 |
ZNF547|FLJ31100 |
UTR
3 |
19 |
62581812 |
0.05 |
0.2 |
0.12 |
0.19 |
hCV15777116 |
GAAAAAGGCCACGTATGTGCCTTGAATGTAGCCAAAATGA[T/C]GAACAACACCCAGAAATCTGTGATTTAGCACTGAGAACTA |
C |
C |
C___2547617_10 |
|
|
zinc
finger protein 548|hypothetical protein FLJ32932 |
ZNF548|FLJ32932 |
UTR
5 |
19 |
62593073 |
0.21 |
0.42 |
0.08 |
0.09 |
hCV2547617 |
CGGGACTTCCGCCGTCCTCCTGGTGGTGGTCGTTTTGGTT[T/C]TGTGTGGTGTTTCACCAACTTCGGCCTATGGCTCTGTCTG |
T |
T |
C___2547622_10 |
|
|
zinc
finger protein 548|hypothetical protein FLJ32932 |
ZNF548|FLJ32932 |
|
19 |
62606120 |
|
|
0.21 |
0.28 |
hCV2547622 |
CAGTGCCTATTTAAAAATGTCATCTCTTTTCTACCAACTG[A/G]CAAAGAGCCATGGTGTGTAGCATTTTAGTCACATTAAAAT |
A |
A |
C___8935988_10 |
|
|
|
|
|
19 |
62623115 |
0.22 |
0 |
0.21 |
0.31 |
hCV8935988 |
TTTGTGAATGACAGTGTTCACCTGGCAAAGAGGAACCTCA[C/A]ATGCATGCAGGGTGGCAAGGATTTTACTGGTGATTCAGAT |
A |
A |
C___2260998_10 |
rs726260 |
|
|
|
|
19 |
62643847 |
0.35 |
0.48 |
0.09 |
0.08 |
hCV2260998 |
GTTGGGCCAGGGCTGCTGTTAGTATTGCAAGAGTGGAGGC[A/G]TTAGATACATGAGAGAGGTACTGTCCAAAGCGAGATGCGA |
G |
G |
C___2552471_10 |
|
|
vomeronasal
1 receptor 1 |
VN1R1 |
|
19 |
62663210 |
0.36 |
0.3 |
0.17 |
0.11 |
hCV2552471 |
TATATACAATTATATACTTTTCTCCTGACTTTTTGAGTTT[G/T]GGCTTCTTGGTGTGGGTCAGTGGCTCCATAGTCTTTGTCC |
G |
G |
C____341399_1_ |
rs2074059 |
IMS-JST000761 |
|
|
|
19 |
62677272 |
0.4 |
0.36 |
0.29 |
0.22 |
hCV341399 |
AAGTCCTTACAAGCCTCCCCTGTCACAAAAGACATCTCCA[A/T]TGATTGCACAGCACAGTTGTTCAGAAGAAAGGGCCTGCTC |
T |
T |
C____335593_10 |
|
|
|
|
|
19 |
62680887 |
0.33 |
0.3 |
0.17 |
0.11 |
hCV335593 |
ACACTAGTAAGCGGCGTCTCGCTTCACCTCCAGGTTAAAA[T/G]CCCAGAGAAGACCGCCAGGGGCGCGTGGAAATGGTGTCCC |
T |
T |
C___2547654_1_ |
rs2285612 |
IMS-JST035867 |
hypothetical
protein FLJ23233 |
FLJ23233 |
|
19 |
62684534 |
0.38 |
0.35 |
0.27 |
0.22 |
hCV2547654 |
ATAGGCAAAACTATGTTAGATGACAATGTAAGAAATCAGA[A/C]ATGCCACAAATTAGACCTCCTTGATGGGTGAATGACTTAC |
C |
C |
C____340799_10 |
|
|
hypothetical
protein FLJ23233 |
FLJ23233 |
|
19 |
62688132 |
0.38 |
0.34 |
0.29 |
0.22 |
hCV340799 |
AGTGGTTAGGAATAGCTGTACTCTTGAGTAGTTGGTGATC[C/G]TGGTTCCTCAGTTCCACTGGAGCTTCCGAAGAGTTTATAA |
G |
G |
C__15862408_10 |
rs2074074 |
|
hypothetical
protein FLJ23233|similar to hypothetical protein FLJ23233 |
FLJ23233|MGC4728 |
Intron |
19 |
62695685 |
|
|
0.29 |
0.21 |
hCV15862408 |
CTTATCCTTGCATAGTCCTTGAGCATCAGCTATTTGGTTG[C/T]AGTTGGTTTTTTCTGGACCTGGACATAACCTTCTGTGCCG |
C |
C |
C___2259109_10 |
rs756980 |
|
similar
to hypothetical protein FLJ23233 |
MGC4728 |
Intron |
19 |
62709447 |
0.18 |
0.17 |
0.06 |
0.09 |
hCV2259109 |
ACCAAGCGCTAGCCCCCTCATTCTGCAAGCAGTCCCACAC[A/G]CTAATTACCAGGTGTGTCAGACACGTGTGAGAGTGCTGCC |
A |
A |
C__11701326_10 |
|
|
zinc
finger protein 549|hypothetical protein FLJ34917 |
ZNF549|FLJ34917 |
|
19 |
62727577 |
0.36 |
0.33 |
0.47 |
0.36 |
hCV11701326 |
CTAAAAGAGATGGAATTTCTTCTAGAATATCAACCAATAC[T/G]TCAAGAAAGTTGTTTAAAAATAGCAGAAAGGTCAATATAA |
T |
T |
C___2552375_10 |
rs1548475 |
|
zinc
finger protein 549|zinc finger protein 550|hypothetical protein
FLJ34917|hypothetical protein MGC41917 |
ZNF549|ZNF550|FLJ34917|MGC41917 |
UTR
3 |
19 |
62750058 |
|
|
0.19 |
0.14 |
hCV2552375 |
GCTGACAAAAAAAATGAAAAGTTTCCTGACATTCTTTGCA[C/T]TCGAAGGACTTCTTCCTACAGTGTGGGTCCCATTATGAAT |
T |
T |
C___2552379_1_ |
rs2285668 |
IMS-JST035937 |
zinc
finger protein 550|hypothetical protein MGC41917 |
ZNF550|MGC41917 |
Intron |
19 |
62754086 |
0.29 |
0.22 |
0.21 |
0.12 |
hCV2552379 |
CCAAGAAGCTTGGCTTTACAAGTGGGGTCAACACAAGTTA[T/C]AGGGTATTGTAGGTGAAAAAGCATTTTGTCTGTTTTCGCC |
T |
T |
C___2552382_10 |
|
|
zinc
finger protein 550|hypothetical protein MGC41917 |
ZNF550|MGC41917 |
Intron |
19 |
62758890 |
0.28 |
0.16 |
0.29 |
0.42 |
hCV2552382 |
GACAGAGAAAGTAAAAGGAATGGCTTTATCAGGGTATCAA[C/A]CCATGCCATTTGAGGACATTCCTGTGTACCCTCTAAAAAC |
A |
A |
C__25628705_10 |
rs3746222 |
|
hypothetical
protein FLJ20557 |
FLJ20557 |
Silent
Mutation |
19 |
62776742 |
|
|
0.14 |
0.12 |
hCV25628705 |
ATAGTTCCTGCCCAGGCAAATCGGTCAGGTGCAAAATGTC[G/A]GTCAGGAATGGGACACACATGTCACAGGATTGAATCTTCT |
A |
A |
C____328984_10 |
rs886265 |
|
hypothetical
protein FLJ20557 |
FLJ20557 |
Intron |
19 |
62781333 |
0.4 |
0.34 |
0.5 |
0.38 |
hCV328984 |
AGGCTATGAGAGGCAGGTAACTATGGTGGAAGCTCCATGG[G/C]CTGATGCCTCCTTGTTTCCCTGCGCAGCCCTGGAGCCAGG |
C |
C |
C____340895_1_ |
rs2074205 |
IMS-JST000954 |
zinc
finger protein 530|KIAA1508 protein |
ZNF530|KIAA1508 |
|
19 |
62793122 |
0.06 |
0.2 |
0.24 |
0.13 |
hCV340895 |
ATTATCCTCAAAACAAACCTGGTGAATCATTCGTTTGGTA[T/C]GTGTGTAATGGGGCTTCTTGCTCTCAGCATAGTCAATGTA |
C |
C |
C____333992_10 |
rs1004206 |
|
zinc
finger protein 530|KIAA1508 protein |
ZNF530|KIAA1508 |
|
19 |
62798435 |
0.07 |
0.17 |
0.22 |
0.13 |
hCV333992 |
ATTTTTCCTCTTCTAATGGATATTTTCAAGTATATACACA[A/G]ATGGAAAGGACTGTGTTCAGATGCACTATGAAACCTTTCT |
G |
G |
C____327557_1_ |
rs2074206 |
IMS-JST000955 |
zinc
finger protein 134 (clone pHZ-15)|zinc finger protein 530|KIAA1508 protein |
ZNF134|ZNF530|KIAA1508 |
Intron |
19 |
62807955 |
0.23 |
0.13 |
0.31 |
0.42 |
hCV327557 |
TCTCAAGCTGCCTGTTTCAGGAATTGCAGGTATCATCATG[G/T]TAACTACTTAACTGGTCCATAGGCTTTTCATAAAGATCCA |
T |
T |
C__25472476_10 |
|
|
zinc
finger protein 211 |
ZNF211 |
Mis-sense
Mutation |
19 |
62836527 |
0.18 |
0.17 |
0.31 |
0.22 |
hCV25472476 |
CGGGGGCAGAGCCGCCCGCGAGGCCGGCCTGGGGATAGCG[G/A]TGCTCGGGTTCCCCCCGGGTCGCCCGCAGCTCCCGGTCCA |
G |
G |
C___2548772_10 |
|
|
zinc
finger protein 551|hypothetical protein BC005868 |
ZNF551|LOC90233 |
|
19 |
62893172 |
0.37 |
0.3 |
0.27 |
0.22 |
hCV2548772 |
CCAACATTCCTATTAATTCAGGTGGCAACAGCCTTCATTG[T/C]TTGCCAAAATTTGCTGCCCCTGAGGCAAGGTTGCCTCTCT |
T |
T |
C___2547685_1_ |
rs2239985 |
IMS-JST011374 |
hypothetical
protein FLJ23506 |
FLJ23506 |
|
19 |
62922743 |
0.24 |
0.02 |
0.2 |
0.2 |
hCV2547685 |
ACTGGCATCCAGGTCACATGATTTGTCTCCCAAAGCCCTG[A/C]AGTCTGTCTTAGAAGGGCTTGAACAGCAACACAAATTAGG |
A |
A |
C___2547686_1_ |
rs1059397 |
IMS-JST011375 |
hypothetical
protein FLJ23506 |
FLJ23506 |
UTR
3 |
19 |
62923353 |
0.42 |
0.35 |
0.23 |
0.3 |
hCV2547686 |
AAAAGTGCAACACAGCTGCTGAAAGCATCTCACATACTTG[G/A]CACTCACAGGGAATCTCCCCAGTGGGAATGTCCATATCTA |
G |
G |
C___2547696_10 |
|
|
hypothetical
protein FLJ38288 |
FLJ38288 |
|
19 |
62941116 |
0.23 |
0.15 |
0.18 |
0.19 |
hCV2547696 |
GATTTATGTGTTCTCAGACTTCACAGAAACTTTTCTAGCT[G/A]CTTATGTCATTCTCAGTGGTAACTTCATTTATCCACAATA |
G |
G |
C___8935891_10 |
|
|
hypothetical
protein FLJ38288 |
FLJ38288 |
Intron |
19 |
62955811 |
0.02 |
0.38 |
0.09 |
0.02 |
hCV8935891 |
TAGAAGCTCTCTGATTTCACAAGTATTTACCTGGCAACAT[A/G]ACGAGCCATATGCTGTTTCTGTCTTCCCCATTCTTGAGAG |
A |
A |
C___2547707_10 |
|
|
hypothetical
protein FLJ38288|zinc finger protein 586|hypothetical protein FLJ20070 |
FLJ38288|ZNF586|FLJ20070 |
|
19 |
62967616 |
|
|
0.34 |
0.24 |
hCV2547707 |
ATTCCTAGGGAGAAACTACAGATACATCTGGATTGAGTAA[A/C]CGGACTTCTTGGATACCCTACTCCAAAAAGTAAAAGACAG |
C |
C |
C___2547708_10 |
|
|
hypothetical
protein FLJ38288|zinc finger protein 586|hypothetical protein FLJ20070 |
FLJ38288|ZNF586|FLJ20070 |
|
19 |
62968468 |
0.35 |
0.45 |
0.35 |
0.23 |
hCV2547708 |
GATTGGTTTCTTATGACAAACTTACACTGTCTGCTTCATA[G/T]GCTGCCCTCTCTATCTGTAATACTCTTAATCCTGCAGTGC |
T |
T |
C___2547711_10 |
|
|
zinc
finger protein 586|hypothetical protein FLJ20070 |
ZNF586|FLJ20070 |
Intron |
19 |
62977871 |
0.43 |
0.27 |
0.48 |
0.46 |
hCV2547711 |
TCTTTTTGTCTGTGGATTTATGCATGGAGGGCGTCAGAAT[T/G]ATTTGGGGCTACCATTGCTATTGAGAAACATTGGAATTCT |
T |
G |
C__15965126_10 |
rs2278290 |
IMS-JST025531 |
zinc
finger protein 586|hypothetical protein FLJ20070 |
ZNF586|FLJ20070 |
|
19 |
62989501 |
0.44 |
0.49 |
0.47 |
0.47 |
hCV15965126 |
ACTTCCTGCGTCCTCGCCGCGGTGGCCATTTTGGCTTGTC[A/G]GGACCATCCACCTATGCTGCGTCTGTACCTCTTTGTCAGG |
A |
G |
C___2830554_10 |
|
|
|
|
|
19 |
62995607 |
0.49 |
0.33 |
0.46 |
0.44 |
hCV2830554 |
AGAATAACCTAAAGATTTTGTTATTTGTGGTAGTCCTTCT[A/G]GTCTAATTGACCTAAAGGTCATTCCTGCATAGGCAGGAGG |
A |
A |
C___2941409_10 |
|
|
zinc
finger protein 587|hypothetical protein FLJ20813|ubiquitin UBF-fl |
ZNF587|FLJ20813|UBF-fl |
|
19 |
63046077 |
0.2 |
0.16 |
0.18 |
0.18 |
hCV2941409 |
CAGGAGAGCTGTCACTACGGAAATGCCTTTTGAATGTAAT[G/A]TTTGCAAAAAAGCACTGTGCCTTCTGTCATTGAATCCTAG |
A |
A |
C___8105112_10 |
|
|
hypothetical
protein MGC34079 |
MGC34079 |
UTR
3 |
19 |
63110630 |
|
|
0.32 |
0.29 |
hCV8105112 |
AAGATAAAGCTCTTAAAATGGACTTTGTGAGGTTCCATGT[A/G]TTTGGTCAGTCATGAGAGGAAGAATAATTCAGAGTGAGAG |
A |
A |
C__11701699_10 |
|
|
hypothetical
protein MGC34079 |
MGC34079 |
|
19 |
63128041 |
0.37 |
0.19 |
0.32 |
0.29 |
hCV11701699 |
TATCTATAAACCCAGAAATTATTGGAGTATCTAGTCAACA[A/T]ATAAGGACCACAAAGTTCTGGAGTCTTTGGAGGCCTTGGG |
T |
T |
C___1399060_10 |
rs3760622 |
|
zinc
finger protein 256 |
ZNF256 |
|
19 |
63139716 |
0.42 |
0.31 |
0.32 |
0.3 |
hCV1399060 |
CTCTCCTGCTTATATAGTCAATTATTGTGTCCAATTCATT[C/G]AGCAAAACATTTATTCATGTAATATCCCTTACTTGGTATT |
G |
G |
C___1399059_10 |
|
|
zinc
finger protein 256 |
ZNF256 |
|
19 |
63139966 |
0.36 |
0.19 |
0.32 |
0.29 |
hCV1399059 |
CATTTGTTTCTCTTGTGACAGCGGGGAGTGTTCTGCATGA[C/G]GAACTAATATGATACCAGAAAAACAGGTGAAATGCCAGTT |
C |
C |
C___2842429_10 |
rs257655 |
|
zinc
finger protein 256 |
ZNF256 |
Intron |
19 |
63150296 |
|
|
0.32 |
0.3 |
hCV2842429 |
CTGGCGTAGATTTCATAACCCTTTACAGCCAAGGGAAACG[C/T]AGAAAGAGCCAGGCCTCAGAGAAGAGCATCTATGGCGGTA |
C |
C |
C___2842431_10 |
rs257656 |
|
zinc
finger protein 256|chromosome 19 open reading frame 18|hypothetical protein
MGC41906 |
ZNF256|C19orf18|MGC41906 |
|
19 |
63152020 |
|
|
0.32 |
0.3 |
hCV2842431 |
GAGCATTAACAGGTGGAACAAAGGGTGCTCTGAATCCCAA[T/A]TGTAGGGTGTATCTTAAATTCAAGATCTCTTCTCAACGCT |
T |
T |
C___2842435_10 |
rs257663 |
|
zinc
finger protein 256|chromosome 19 open reading frame 18|hypothetical protein
MGC41906 |
ZNF256|C19orf18|MGC41906 |
|
19 |
63156742 |
|
|
0.44 |
0.4 |
hCV2842435 |
TACCTATGTCCATGTACTCACCCTTCCAGCAGGCCAAGGC[A/G]TTTTTCCAGCATCGAGCCCGGAAATGGACAGTCACAGGCT |
G |
G |
C___2842457_10 |
rs257677 |
|
hypothetical
protein FLJ14260|chromosome 19 open reading frame 18|hypothetical protein
MGC41906 |
FLJ14260|C19orf18|MGC41906 |
|
19 |
63178665 |
0.42 |
0.15 |
0.44 |
0.4 |
hCV2842457 |
ACCTGGGAGTGCTGGATGTTAGGGACCACTGAAATCAATA[G/C]TGTCCAGGCTGTGCATGATAGGTGAGAGGAAGGGAATACT |
G |
G |
C___2842473_10 |
|
|
hypothetical
protein FLJ14260 |
FLJ14260 |
Intron |
19 |
63198468 |
0.29 |
0.28 |
0.03 |
0.08 |
hCV2842473 |
GGGTATGCCTAGATAAAAACTACATAAACACGTGCACAAA[G/A]TGAAGTCACAGGAATGTTCACACAGCTTTCACTGGAGCAG |
A |
A |
C___2842477_10 |
rs1035521 |
|
hypothetical
protein FLJ14260 |
FLJ14260 |
Intron |
19 |
63202694 |
|
|
0.03 |
0.08 |
hCV2842477 |
GCACTGCACAGCATCAGCCTAAATCGGGTGCTAAAGACAT[G/A]AGTGAAGGTGGCAATAGAGAAGTGGGGCTGCCAGCCAAAA |
A |
A |
C___2842478_10 |
rs1035522 |
|
hypothetical
protein FLJ14260 |
FLJ14260 |
Intron |
19 |
63202744 |
0.31 |
0.35 |
0.49 |
0.35 |
hCV2842478 |
GGCAATAGAGAAGTGGGGCTGCCAGCCAAAAGGGCTGCCC[C/T]TCATGCCCCACAACAAGCCAGGGAGAGTTGGAGCTCAGTA |
C |
T |
C___2842490_10 |
|
|
hypothetical
protein FLJ14260 |
FLJ14260 |
|
19 |
63210703 |
0.4 |
0.18 |
0.42 |
0.45 |
hCV2842490 |
TGGGGGACAAGTGAGACCAGTGAGAGAGGGTTTTTGCCTT[A/G]GAATTGCCCCTTCCCTGGAGACAGCAGCAAGATGAAGGCC |
G |
A |
C____987319_10 |
rs384702 |
|
hypothetical
protein FLJ33779|zinc finger protein 135 (clone pHZ-17) |
FLJ33779|ZNF135 |
Intron |
19 |
63244613 |
|
|
0.31 |
0.48 |
hCV987319 |
GGGCACACATTGGGAAACAGAGACCTCCACACGAGGCACT[G/A]CACCCAGCACAAACTGGGGGGACCCCTTATCTCTTGGTAA |
G |
G |
C__11701774_10 |
rs4801552 |
|
zinc
finger protein 135 (clone pHZ-17) |
ZNF135 |
|
19 |
63261443 |
0.49 |
0.46 |
0.11 |
0.24 |
hCV11701774 |
CACAAATGTGGGGCTTTACAGTACTTGGAATGTACAGGAC[A/G]CCCTTAAAAGCCAAGAAGCTTGCCTTTGCTTTGTTTACAT |
A |
A |
C___3170855_10 |
rs1549491 |
|
hypothetical
protein FLJ12895|zinc finger protein 135 (clone pHZ-17) |
FLJ12895|ZNF135 |
|
19 |
63280246 |
0.35 |
0.16 |
0.42 |
0.43 |
hCV3170855 |
GAGACATCTGGGAACCTTTCTACAAATTCATGTTCTCTCG[A/G]GTTGAGGGAAGGCTGGGCTGCACTATGTTTTGAGGCTCTG |
G |
A |
C___3170854_10 |
rs1004526 |
|
hypothetical
protein FLJ12895|zinc fingerprotein 135 (clone pHZ-17) |
FLJ12895|ZNF135 |
|
19 |
63280661 |
|
|
0.43 |
0.42 |
hCV3170854 |
AATCTGCACACCAAGGCACTGGGTGATTCTGAAACAGACC[C/T]GGAAGCCTCAAGTGAGAACTGTGCCCAAACTTCCTGAAGC |
T |
C |
C__11701786_1_ |
rs3745126 |
|
hypothetical
protein FLJ12895|zinc finger protein 135 (clone pHZ-17) |
FLJ12895|ZNF135 |
Intron |
19 |
63289780 |
0.03 |
0.17 |
0.22 |
0.15 |
hCV11701786 |
TTCTGGGGCAAGAACGTCTACAAAAGAGGAGACCCTTGAT[C/G]AGGCCATGCAGGTGAGGCCCTGTATCTGGCAAGGAGGGTG |
G |
G |
C___1997232_10 |
rs1025020 |
|
hypothetical
protein FLJ12895|zinc finger protein 135 (clone pHZ-17) |
FLJ12895|ZNF135 |
Intron |
19 |
63296809 |
0.14 |
0.41 |
0.37 |
0.3 |
hCV1997232 |
GGGCGGGTAAACTGCCCACTTTCCCGTGACTTTTTCTTTA[T/C]AGCTCTTTCTGTCAACCAGTTAACGAGTTCCCTGTCTGGC |
T |
T |
C___3170842_10 |
rs3810126 |
|
hypothetical
protein FLJ12895 |
FLJ12895 |
|
19 |
63302066 |
0.33 |
0.34 |
0.49 |
0.45 |
hCV3170842 |
AGACACTGATGCGCTAAAATGGGTTCTACAGTTTCAAGGA[A/G]TGGATAGAACTCAAAGATTACCCACCCCAGGGATTCAGGA |
G |
G |
C___3170823_10 |
|
|
hypothetical
protein FLJ12895 |
FLJ12895 |
|
19 |
63305847 |
|
|
0.49 |
0.45 |
hCV3170823 |
GGACTACAATGGCACACAGACTTGCCATTTTGTACTGCAT[C/T]GGATATGTCAATGTTAATTGTCATCTCAGCAACAAGATTT |
C |
C |
C___7625301_10 |
rs933670 |
|
|
|
|
19 |
63311659 |
0.14 |
0.03 |
0.4 |
0.34 |
hCV7625301 |
TATGTGGGTTTTCTCATGCTTGGTAAAGGTGGAGCCAGCA[T/C]TGAAGGCTTTCCCACTTCTTGCATTTATAGGATTTCTCTC |
C |
C |
C___3170802_10 |
rs2547348 |
|
|
|
|
19 |
63318691 |
0.16 |
0.48 |
0.46 |
0.35 |
hCV3170802 |
TTTACTTCCTGTTTTCTTCACAGAGAATCATTTTGAAACA[G/C]GTGGAGTCAACGTGTGTATATAACTTGGGTCCTTTTTTGT |
G |
G |
C___3170799_10 |
rs2098686 |
|
hypothetical
protein FLJ12586|hypothetical protein FLJ12586 |
FLJ12586|FLJ12586 |
|
19 |
63321855 |
0.16 |
0.5 |
0.48 |
0.37 |
hCV3170799 |
GCCGCTGCGGACGAGCACCTGGTCTCTCAGGTTGACCAGC[C/T]GTATATCCGCTTGCGAGCCTGCACCACCCTGGGCGCGCGT |
C |
C |
C____954845_10 |
rs159680 |
|
hypothetical
protein FLJ12586 |
FLJ12586 |
|
19 |
63353393 |
0.13 |
0.08 |
0.31 |
0.32 |
hCV954845 |
TGCAAAAATGCGGCCCTCACTGAGAATTGCAGTAAAACAT[A/G]ATTTTGCAAATATCAAATGGAAAAACACACAGGTGATCTA |
A |
A |
C____794932_10 |
rs171853 |
|
zinc
finger protein 274 |
ZNF274 |
|
19 |
63376863 |
0.34 |
0.3 |
0.48 |
0.49 |
hCV794932 |
CCGCGCAGCCTCACGTGAAAAAGACTTTTCTCTCAATTTC[G/A]CAATCTGTCTCTCTGTCTCTCTCTCTCTGTCACGTTTTGA |
G |
A |
C___1654736_10 |
rs174280 |
|
zinc
finger protein 274 |
ZNF274 |
Intron |
19 |
63403734 |
0.33 |
0.37 |
0.26 |
0.36 |
hCV1654736 |
GTAGGAAGATGGTTCTGAGGAGGTGACGTTTGAGCTCAGA[C/G]CTGAATGGGAAAGGCGAACCAGGTGAAGATGTTGGGGAAG |
G |
G |
C____795015_10 |
rs260422 |
|
zinc
finger protein 274 |
ZNF274 |
|
19 |
63421645 |
0.41 |
0.39 |
0.27 |
0.36 |
hCV795015 |
CTCTAGGCACGCCCGGCAGGGGGAATATCGAGATGCTTAC[T/C]ACACCAGTTTGTGTTTTGCCATATCCAGGATCCTCAGTCT |
C |
C |
C____795052_1_ |
rs260502 |
IMS-JST014481 |
zinc
finger protein 8 (clone HF.18) |
ZNF8 |
Intron |
19 |
63482596 |
0.19 |
0.29 |
0.45 |
0.49 |
hCV795052 |
GTCCTCCCCAGGGCTGGGGTCGGTCATTCCCGAGAGAATC[G/A]AGCAGGCCCATCTCCTGCGTTCTGCTCCGCCCCGCCGACA |
A |
G |
C___8877831_10 |
rs3848524 |
|
zinc
finger protein 8 (clone HF.18) |
ZNF8 |
|
19 |
63508341 |
|
|
0.3 |
0.17 |
hCV8877831 |
AGAACATATAAAACCATGGATGTCAATATACTTCCCTTCC[A/G]GTGCGCTGCCTGCGCAGAACCGAGAGGTTCTGACGATCCG |
A |
A |
C___1116899_10 |
|
|
alpha-1-B
glycoprotein|zinc finger protein 497 |
A1BG|ZNF497 |
Intron |
19 |
63565396 |
0.38 |
0.2 |
0.13 |
0.07 |
hCV1116899 |
ACAACCCCCAAGGCCTAGGCTGGACAAACAAATACGGAGT[A/G]GATAAAGGGGAGGAAGCTGCGGCCAGGTGGCGCGAGGCCT |
A |
A |
C___8877726_10 |
|
|
hypothetical
protein FLJ39005|ribosomal protein S5 |
FLJ39005|RPS5 |
|
19 |
63598907 |
0.4 |
0.44 |
0.48 |
0.5 |
hCV8877726 |
GGAGGCTTCCACAGGTAGGAAGGCGCCCACAGGCTGGCTG[G/C]GGTCTGTCATTACTCTGTGGGGGGTGCCTATCTCTGCTCC |
C |
C |
C___1116853_1_ |
rs2278498 |
IMS-JST025813 |
hypothetical
protein FLJ39005|ribosomal protein S5|zinc finger protein 584|hypothetical
protein LOC201514 |
FLJ39005|RPS5|ZNF584|LOC201514 |
UTR
3 |
19 |
63603580 |
0.41 |
0.35 |
0.42 |
0.48 |
hCV1116853 |
GTGCCCAATGTCTGCCTGCCTATCCACTGCTTTCAAACAA[A/G]GAGGCTGCCTGACACCACCCAGGGGGACGCCTCCCACCCT |
A |
A |
C___1116812_10 |
|
|
zinc
finger protein 584|hypothetical protein LOC201514 |
ZNF584|LOC201514 |
|
19 |
63624513 |
0.24 |
0.14 |
0.06 |
0.01 |
hCV1116812 |
TCCCCCACTTCCCCAGACTGGCTGCTGGATAGGATATTGA[T/C]CACCTTGCTGCCTATAGAAATCTCAGTGCTGCTTTTTTAG |
C |
C |
C___1116765_10 |
rs893186 |
|
hypothetical
protein FLJ20626|zinc finger protein 324|zinc finger protein |
FLJ20626|ZNF324|ZF5128 |
|
19 |
63660991 |
0.49 |
0.22 |
0.3 |
0.23 |
hCV1116765 |
CTTTTCAATGGAGAAAAAAAAAGACTAGTATTTGCAACTT[A/C]AAATAGATGTAGTTTCCTTTACAGCCGTGTGGACCTCCAC |
A |
A |
C___1116755_10 |
rs3794968 |
|
hypothetical
protein FLJ20626|zinc finger protein 324|zinc finger protein |
FLJ20626|ZNF324|ZF5128 |
|
19 |
63678611 |
0.48 |
0.3 |
0.28 |
0.22 |
hCV1116755 |
CTCCCCAAATTCAAAGGTAAATAAACGGTTGAGCATGTCC[C/G]ATCAGCCTGGAGGGAAACCTCCACCCCCGACTTTGTAGGA |
C |
C |
C____522137_10 |
rs731259 |
|
hypothetical
protein FLJ20626|zinc finger protein 324|zinc finger protein |
FLJ20626|ZNF324|ZF5128 |
Intron |
19 |
63681236 |
0.23 |
0.13 |
0.06 |
0.02 |
hCV522137 |
GAGCTCCTCATCTGCCATGGCTCATGTGGGCAGCCCCTGA[T/C]ACCACCCTTCCATCTGCCCCACTTTTCAGCACCCTCCAGC |
T |
T |
C___1116753_1_ |
rs3752112 |
|
hypothetical
protein FLJ20626|zinc finger protein 324|zinc finger protein |
FLJ20626|ZNF324|ZF5128 |
UTR
3 |
19 |
63684032 |
0.23 |
0.18 |
0.06 |
0.03 |
hCV1116753 |
CAGCAGGGGATGCCAGAGTGAACAAGGGGTCCCAAGCCAG[G/T]TCCCTGCCCCTGGTCTGGTCTCCCCCAAAAGACCTGGGTG |
G |
G |
C___2145915_10 |
|
|
putative
breast adenocarcinoma marker (32kD)|tripartite motif-containing 28|zinc
finger protein 42 (myeloid-specific retinoic
acid-responsive)|ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)|zinc
finger protein 499|hypothetical protein FLJ14486 |
BC-2|TRIM28|ZNF42|UBE2M|ZNF499|FLJ14486 |
Intron |
19 |
63749895 |
0.39 |
0.33 |
0.18 |
0.33 |
hCV2145915 |
TGAGCCCTGATGCTACATATTTTGGATTTGGTTGGTATGT[T/G]GGACCAGTGTGTTTGATCAGTTTTCTAATGGGGAGACAGG |
G |
G |
C__15976555_10 |
rs2305120 |
|
putative
breast adenocarcinoma marker (32kD)|tripartite motif-containing 28|zinc
finger protein 42 (myeloid-specific retinoic
acid-responsive)|ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)|zinc
finger protein 499|hypothetical protein FLJ14486 |
BC-2|TRIM28|ZNF42|UBE2M|ZNF499|FLJ14486 |
Silent
Mutation |
19 |
63751541 |
0.05 |
0.12 |
0.39 |
0.32 |
hCV15976555 |
|
#N/A |
#N/A |
C___3252356_10 |
|
|
putative
breast adenocarcinoma marker (32kD)|tripartite motif-containing 28|zinc
finger protein 42 (myeloid-specific retinoic
acid-responsive)|ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast) |
BC-2|TRIM28|ZNF42|UBE2M |
|
19 |
63763133 |
0.41 |
0.1 |
0.18 |
0.3 |
hCV3252356 |
CTGGACAATGGGATGGAAGGGGAAGATGGCTAGGGCAAAA[T/C]AGGCAATGGCACTGGGTCCTGGAGACGCTGCCCTGAAGCC |
C |
C |
C___8351670_1_ |
rs7910 |
|
hypothetical
protein MGC2752|zinc finger protein 42 (myeloid-specific retinoic
acid-responsive)|ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast) |
MGC2752|ZNF42|UBE2M |
UTR
3 |
19 |
63785276 |
|
|
0.26 |
0.36 |
hCV8351670 |
TCCTGACCCTATTGCTCGGTGGCAACGCAGCCGGCGACTT[T/C]AAGCTGAAGGCCCTGCTGGGGTACCCCTCGGAGAACCCGT |
C |
C |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|