| Chromosome |
Position |
Variation ID |
Gene |
Codon change |
Amino acid change |
Allele frequency |
More details |
| chr10 |
47838 |
rs782272071 |
TUBB8 |
c.C554T |
p.A185V |
0.0101 |
TUBB8 |
| chr16 |
59475 |
. |
RHBDF1 |
c.G1837A |
p.E613K |
|
RHBDF1 |
| chr1 |
69428 |
rs140739101 |
OR4F5 |
c.T338G |
p.F113C |
0.0246 |
OR4F5 |
| chr19 |
110853 |
. |
OR4F17 |
c.C175T |
p.L59F |
|
OR4F17 |
| chr9 |
117666 |
rs7031810 |
FOXD4 |
c.A454G |
p.I152V |
0.1985 |
FOXD4 |
| chr9 |
117696 |
rs9406415 |
FOXD4 |
c.C424T |
p.R142C |
0.2541 |
FOXD4 |
| chr9 |
117720 |
rs10959293 |
FOXD4 |
c.A400T |
p.I134F |
0.0116 |
FOXD4 |
| chr20 |
158815 |
rs12624954 |
DEFB127 |
c.G91A |
p.G31R |
0.3603 |
DEFB127 |
| chr8 |
166815 |
. |
OR4F21 |
c.C210A |
p.D70E |
|
OR4F21 |
| chr5 |
171278 |
rs115996841 |
PLEKHG4B |
c.G3884A |
p.R1295H |
0.0012 |
PLEKHG4B |
| chr5 |
172915 |
rs759975320 |
PLEKHG4B |
c.G4069A |
p.G1357R |
8.24E-06 |
PLEKHG4B |
| chr20 |
187911 |
rs368724506 |
DEFB128 |
c.C257T |
p.P86L |
|
DEFB128 |
| chr5 |
191939 |
rs182961336 |
LRRC14B |
c.G401A |
p.R134H |
0.0007 |
LRRC14B |
| chr11 |
199492 |
rs72878024 |
ODF3 |
c.G658A |
p.A220T |
0.0784 |
ODF3 |
| chr5 |
205541 |
rs370948312 |
CCDC127 |
c.G539A |
p.R180H |
0.001 |
CCDC127 |
| chr11 |
212473 |
rs763932407 |
RIC8A |
c.C1027T |
p.R343W |
0.0003 |
RIC8A |
| chr11 |
212645 |
rs747911911 |
RIC8A |
c.C1096T |
p.R366W |
2.54E-05 |
RIC8A |
| chr2 |
218834 |
rs545313794 |
SH3YL1 |
c.G718A |
p.A240T |
0.0001 |
SH3YL1 |
| chr12 |
237241 |
rs199825876 |
SLC6A13 |
c.C337T |
p.R113C |
0.0004 |
SLC6A13 |
| chr10 |
242036 |
. |
ZMYND11 |
c.C796A |
p.L266M |
|
ZMYND11 |
| chr2 |
249755 |
rs568441687 |
SH3YL1 |
c.G202T |
p.V68L |
|
SH3YL1 |
| chr2 |
249761 |
rs375557464 |
SH3YL1 |
c.G196A |
p.G66R |
0.0013 |
SH3YL1 |
| chr7 |
257051 |
. |
FAM20C |
c.T1410A |
p.N470K |
|
FAM20C |
| chr20 |
259163 |
rs79298157 |
DEFB132 |
c.T145C |
p.C49R |
0.0022 |
DEFB132 |
| chr18 |
260270 |
. |
THOC1 |
c.G291T |
p.L97F |
|
THOC1 |
| chr16 |
264882 |
rs200909290 |
FAM234A |
c.G1519A |
p.G507S |
0.0012 |
FAM234A |
| chr16 |
270541 |
rs376519795 |
RGS11 |
c.A636G |
p.I212M |
0.0017 |
RGS11 |
| chr16 |
270572 |
rs543301245 |
RGS11 |
c.G605A |
p.R202H |
0.0004 |
RGS11 |
| chr16 |
270760 |
rs9806942 |
RGS11 |
c.G499A |
p.V167M |
0.1234 |
RGS11 |
| chr4 |
271758 |
rs150738695 |
ZNF732 |
c.T1096C |
p.C366R |
0.0186 |
ZNF732 |
| chr2 |
272203 |
rs11553746 |
ACP1 |
c.C284T |
p.T95I |
0.3104 |
ACP1 |
| chr11 |
280141 |
. |
NLRP6 |
c.G407T |
p.R136M |
|
NLRP6 |
| chr19 |
282795 |
rs201440917 |
PLPP2 |
c.C560T |
p.S187L |
0.0006 |
PLPP2 |
| chr11 |
284348 |
rs200341428 |
NLRP6 |
c.C2317T |
p.R773C |
0.0003 |
NLRP6 |
| chr16 |
284543 |
rs45614840 |
PDIA2 |
c.C356G |
p.T119R |
0.1043 |
PDIA2 |
| chr16 |
286377 |
rs45529833 |
PDIA2 |
c.C1144G |
p.P382A |
0.0272 |
PDIA2 |
| chr16 |
304329 |
. |
AXIN1 |
c.A1229T |
p.E410V |
|
AXIN1 |
| chr16 |
304425 |
rs548567255 |
AXIN1 |
c.C1133G |
p.P378R |
2.62E-05 |
AXIN1 |
| chr5 |
306703 |
. |
PDCD6 |
c.C100T |
p.R34W |
|
PDCD6 |
| chr12 |
323202 |
. |
KDM5A |
c.C2155A |
p.R719S |
|
KDM5A |
| chr12 |
323205 |
rs763650631 |
KDM5A |
c.T2152A |
p.Y718N |
2.36E-05 |
KDM5A |
| chr9 |
325699 |
rs543445912 |
DOCK8 |
c.G652C |
p.A218P |
8.24E-06 |
DOCK8 |
| chr18 |
334742 |
rs2305027 |
COLEC12 |
c.G1816A |
p.G606S |
0.4353 |
COLEC12 |
| chr16 |
346839 |
rs145608130 |
AXIN1 |
c.C187T |
p.R63C |
2.49E-05 |
AXIN1 |
| chr3 |
360359 |
rs199822757 |
CHL1 |
c.T1241C |
p.V414A |
0.0023 |
CHL1 |
| chr12 |
365989 |
. |
KDM5A |
c.A482G |
p.H161R |
|
KDM5A |
| chr9 |
368128 |
rs17673268 |
DOCK8 |
c.C1586T |
p.A529V |
0.0751 |
DOCK8 |
| chr16 |
377578 |
rs757010920 |
TMEM8A |
c.C307G |
p.R103G |
0.0009 |
TMEM8A |
| chr20 |
391525 |
. |
TRIB3 |
c.G611T |
p.G204V |
|
TRIB3 |
| chr20 |
396491 |
rs541757425 |
TRIB3 |
c.G959A |
p.R320H |
7.65E-05 |
TRIB3 |
| chr11 |
397150 |
rs545630545 |
PKP3 |
c.C694T |
p.R232C |
0.0004 |
PKP3 |
| chr11 |
397331 |
rs200371913 |
PKP3 |
c.G875C |
p.R292P |
0.0699 |
PKP3 |
| chr9 |
406999 |
rs34390308 |
DOCK8 |
c.C3256T |
p.R1086C |
0.0026 |
DOCK8 |
| chr11 |
408174 |
rs117739035 |
SIGIRR |
c.C239A |
p.S80Y |
0.0286 |
SIGIRR |
| chr9 |
429816 |
rs536373496 |
DOCK8 |
c.C4384G |
p.L1462V |
0.001 |
DOCK8 |
| chr12 |
441801 |
rs766505954 |
CCDC77 |
c.G1252A |
p.D418N |
|
CCDC77 |
| chr12 |
460381 |
rs766979963 |
B4GALNT3 |
c.G5A |
p.G2E |
0.0048 |
B4GALNT3 |
| chr5 |
465127 |
. |
EXOC3 |
c.C1793G |
p.A598G |
|
EXOC3 |
| chr19 |
467664 |
rs79399119 |
ODF3L2 |
c.C334T |
p.R112W |
0.0133 |
ODF3L2 |
| chr5 |
476302 |
rs752930361 |
SLC9A3 |
c.C1940T |
p.T647I |
2.48E-05 |
SLC9A3 |
| chr16 |
488888 |
rs139898544 |
RAB11FIP3 |
c.G265A |
p.G89R |
0.0003 |
RAB11FIP3 |
| chr4 |
499412 |
rs530918336 |
PIGG |
c.G77T |
p.G26V |
1.88E-05 |
PIGG |
| chr17 |
521621 |
rs751703857 |
VPS53 |
c.C2203T |
p.R735W |
|
VPS53 |
| chr17 |
537124 |
. |
VPS53 |
c.C1919T |
p.S640F |
|
VPS53 |
| chr19 |
547381 |
. |
GZMM |
c.G40A |
p.G14S |
|
GZMM |
| chr19 |
549093 |
rs549703952 |
GZMM |
c.C403T |
p.R135C |
0.0003 |
GZMM |
| chr16 |
563344 |
rs116903998 |
PRR35 |
c.G50A |
p.R17Q |
0.0112 |
PRR35 |
| chr19 |
579604 |
rs367570309 |
BSG |
c.G172C |
p.G58R |
8.43E-06 |
BSG |
| chr18 |
580623 |
rs61734344 |
CETN1 |
c.T215C |
p.M72T |
0.1416 |
CETN1 |
| chr16 |
582922 |
rs775925962 |
PIGQ |
c.C1571T |
p.P524L |
3.34E-05 |
PIGQ |
| chr11 |
618833 |
rs139058512 |
CDHR5 |
c.C1708G |
p.P570A |
0.0002 |
CDHR5 |
| chr18 |
619243 |
rs557572063 |
CLUL1 |
c.A293T |
p.D98V |
0.0005 |
CLUL1 |
| chr17 |
623667 |
rs16954056 |
VPS53 |
c.C982A |
p.L328I |
0.1116 |
VPS53 |
| chr16 |
632856 |
. |
WFIKKN1 |
c.G446T |
p.G149V |
|
WFIKKN1 |
| chr16 |
633062 |
. |
WFIKKN1 |
c.A652G |
p.T218A |
|
WFIKKN1 |
| chr16 |
650707 |
rs745306860 |
WDR90 |
c.C557T |
p.P186L |
8.47E-06 |
WDR90 |
| chr17 |
653315 |
rs548219603 |
VPS53 |
c.C584T |
p.P195L |
|
VPS53 |
| chr17 |
655848 |
rs569382620 |
VPS53 |
c.G478A |
p.D160N |
3.31E-05 |
VPS53 |
| chr6 |
656555 |
rs1766848 |
HUS1B |
c.C390A |
p.H130Q |
0.091 |
HUS1B |
| chr16 |
656840 |
. |
WDR90 |
c.C2311A |
p.L771M |
|
WDR90 |
| chr16 |
662277 |
rs375846352 |
WDR90 |
c.G4091A |
p.R1364H |
0.0048 |
WDR90 |
| chr8 |
668730 |
rs555321417 |
ERICH1 |
c.C1126A |
p.L376I |
0.0004 |
ERICH1 |
| chr16 |
672293 |
rs190450557 |
RHOT2 |
c.C1235T |
p.T412M |
0.0007 |
RHOT2 |
| chr4 |
679983 |
rs61748885 |
MYL5 |
c.C257T |
p.T86I |
0.0402 |
MYL5 |
| chr18 |
683287 |
rs146518307 |
ENOSF1 |
c.A292G |
p.T98A |
5.77E-05 |
ENOSF1 |
| chr16 |
683424 |
rs72773413 |
JMJD8 |
c.G382C |
p.G128R |
0.0042 |
JMJD8 |
| chr18 |
694303 |
rs150777254 |
ENOSF1 |
c.C95T |
p.A32V |
0.0018 |
ENOSF1 |
| chr9 |
711991 |
rs781031033 |
KANK1 |
c.A1225G |
p.M409V |
6.59E-05 |
KANK1 |
| chr9 |
713381 |
rs148558003 |
KANK1 |
c.C2141G |
p.S714C |
0.0005 |
KANK1 |
| chr9 |
713381 |
rs148558003 |
KANK1 |
c.C2615G |
p.S872C |
0.0005 |
KANK1 |
| chr16 |
721846 |
rs12931094 |
FAM173A |
c.G313A |
p.E105K |
0.0015 |
FAM173A |
| chr16 |
731626 |
rs372706521 |
NARFL |
c.C667T |
p.R223W |
0.0003 |
NARFL |
| chr9 |
740838 |
. |
KANK1 |
c.C3126G |
p.I1042M |
|
KANK1 |
| chr17 |
745333 |
rs774075432 |
GEMIN4 |
c.C2710G |
p.P904A |
2.56E-05 |
GEMIN4 |
| chr17 |
746307 |
rs910925 |
GEMIN4 |
c.C1736G |
p.A579G |
0.6244 |
GEMIN4 |
| chr19 |
746789 |
rs538060937 |
PALM |
c.G1007A |
p.R336H |
4.85E-05 |
PALM |
| chr17 |
746794 |
rs370614163 |
GEMIN4 |
c.C1249T |
p.R417C |
5.82E-05 |
GEMIN4 |
| chr16 |
765549 |
rs75279195 |
MSLN |
c.T727C |
p.S243P |
0.027 |
MSLN |
| chr16 |
765565 |
rs77260498 |
MSLN |
c.T743C |
p.L248P |
0.0272 |
MSLN |
| chr17 |
782506 |
rs536301279 |
MRM3 |
c.C128A |
p.P43H |
0.0009 |
MRM3 |
| chr16 |
786149 |
rs3751672 |
RPUSD1 |
c.T353C |
p.L118P |
0.0159 |
RPUSD1 |
| chr4 |
786668 |
. |
CPLX1 |
c.G238T |
p.A80S |
|
CPLX1 |
| chr16 |
793229 |
rs756159674 |
CHTF18 |
c.T1757C |
p.L586P |
1.08E-05 |
CHTF18 |
| chr16 |
797052 |
rs776438056 |
CHTF18 |
c.G2693A |
p.R898Q |
1.86E-05 |
CHTF18 |
| chr16 |
797715 |
rs766026350 |
CHTF18 |
c.C2755T |
p.R919C |
1.69E-05 |
CHTF18 |
| chr11 |
802347 |
rs554113133 |
PIDD1 |
c.C1024T |
p.R342C |
0.0002 |
PIDD1 |
| chr11 |
802802 |
rs200869254 |
PIDD1 |
c.C799T |
p.R267W |
0.0003 |
PIDD1 |
| chr19 |
812795 |
. |
PLPPR3 |
c.C1932A |
p.S644R |
|
PLPPR3 |
| chr19 |
813292 |
rs772784383 |
PLPPR3 |
c.G1435A |
p.G479R |
0.0002 |
PLPPR3 |
| chr11 |
824700 |
. |
PNPLA2 |
c.C1353A |
p.N451K |
|
PNPLA2 |
| chr11 |
836426 |
rs200217814 |
CD151 |
c.G260T |
p.R87L |
0.0002 |
CD151 |
| chr20 |
845484 |
rs74457967 |
FAM110A |
c.C680T |
p.A227V |
0.0136 |
FAM110A |
| chr5 |
848594 |
. |
ZDHHC11 |
c.G289A |
p.D97N |
|
ZDHHC11 |
| chr7 |
851463 |
rs142011077 |
SUN1 |
c.G738T |
p.W246C |
0.0126 |
SUN1 |
| chr19 |
860987 |
. |
CFD |
c.C360A |
p.H120Q |
|
CFD |
| chr11 |
869901 |
. |
CHID1 |
c.G1046T |
p.W349L |
|
CHID1 |
| chr16 |
869929 |
rs757628838 |
LMF1 |
c.C1370T |
p.P457L |
0.0002 |
LMF1 |
| chr16 |
869948 |
rs138205062 |
LMF1 |
c.C1351T |
p.R451W |
0.0044 |
LMF1 |
| chr1 |
939334 |
rs201596485 |
SAMD11 |
c.C580T |
p.R194W |
0.0007 |
SAMD11 |
| chr1 |
948231 |
. |
NOC2L |
c.A1559G |
p.D520G |
|
NOC2L |
| chr1 |
952443 |
. |
NOC2L |
c.A1160G |
p.H387R |
|
NOC2L |
| chr1 |
953858 |
rs3828049 |
NOC2L |
c.C812T |
p.A271V |
0.0578 |
NOC2L |
| chr4 |
958003 |
rs80114247 |
TMEM175 |
c.T674C |
p.M225T |
0.0309 |
TMEM175 |
| chr1 |
963165 |
. |
KLHL17 |
c.G1099T |
p.D367Y |
|
KLHL17 |
| chr20 |
964096 |
rs568780057 |
RSPO4 |
c.G434T |
p.G145V |
4.46E-05 |
RSPO4 |
| chr4 |
973238 |
. |
DGKQ |
c.G245C |
p.W82S |
|
DGKQ |
| chr4 |
973283 |
rs369795656 |
DGKQ |
c.C200T |
p.T67M |
0.0273 |
DGKQ |
| chr9 |
977237 |
. |
DMRT3 |
c.C236T |
p.A79V |
|
DMRT3 |
| chr1 |
979288 |
rs546960804 |
PERM1 |
c.C1460G |
p.P487R |
0.0007 |
PERM1 |
| chr1 |
979300 |
rs866428768 |
PERM1 |
c.C1448T |
p.A483V |
|
PERM1 |
| chr7 |
984500 |
rs545987026 |
CYP2W1 |
c.C263A |
p.A88E |
0.0003 |
CYP2W1 |
| chr7 |
987198 |
rs551440848 |
CYP2W1 |
c.C911T |
p.T304M |
0.0006 |
CYP2W1 |
| chr7 |
987352 |
rs745500143 |
CYP2W1 |
c.G964A |
p.V322M |
0.0001 |
CYP2W1 |
| chr4 |
987900 |
rs564306004 |
IDUA |
c.G250A |
p.G84S |
0.0006 |
IDUA |
| chr4 |
989637 |
. |
SLC26A1 |
c.C1302A |
p.F434L |
|
SLC26A1 |
| chr4 |
989750 |
rs572968482 |
SLC26A1 |
c.G1189A |
p.A397T |
0.0004 |
SLC26A1 |
| chr4 |
989849 |
rs760307096 |
SLC26A1 |
c.G1090A |
p.A364T |
3.99E-05 |
SLC26A1 |
| chr4 |
991421 |
rs777205197 |
SLC26A1 |
c.G283A |
p.G95R |
8.35E-06 |
SLC26A1 |
| chr1 |
999375 |
. |
HES4 |
c.G428T |
p.C143F |
|
HES4 |
| chr1 |
999882 |
. |
HES4 |
c.C92A |
p.A31E |
|
HES4 |
| chr10 |
1000764 |
rs199736710 |
GTPBP4 |
c.C742T |
p.R248C |
0.0013 |
GTPBP4 |
| chr4 |
1002395 |
rs751547595 |
IDUA |
c.G1099A |
p.A367T |
3.76E-05 |
IDUA |
| chr4 |
1003137 |
rs570594115 |
IDUA |
c.C1504T |
p.R502W |
0.0002 |
IDUA |
| chr19 |
1004675 |
rs375645814 |
GRIN3B |
c.G1174A |
p.G392S |
2.89E-05 |
GRIN3B |
| chr19 |
1008259 |
. |
GRIN3B |
c.C2434T |
p.P812S |
|
GRIN3B |
| chr1 |
1022361 |
rs533320704 |
AGRN |
c.C362A |
p.P121H |
0.0001 |
AGRN |
| chr12 |
1028211 |
rs535851221 |
ERC1 |
c.G308C |
p.R103P |
0.0003 |
ERC1 |
| chr19 |
1037719 |
rs199741851 |
CNN2 |
c.G812T |
p.G271V |
6.86E-05 |
CNN2 |
| chr1 |
1044368 |
rs113288277 |
AGRN |
c.A2183T |
p.E728V |
0.0302 |
AGRN |
| chr1 |
1045274 |
. |
AGRN |
c.C2368G |
p.P790A |
|
AGRN |
| chr19 |
1054643 |
rs146191555 |
ABCA7 |
c.C3800T |
p.P1267L |
7.55E-05 |
ABCA7 |
| chr19 |
1055203 |
rs766588125 |
ABCA7 |
c.C4057T |
p.R1353W |
4.09E-05 |
ABCA7 |
| chr9 |
1056870 |
rs41311430 |
DMRT2 |
c.C1283T |
p.A428V |
0.0149 |
DMRT2 |
| chr7 |
1057919 |
rs61997249 |
GPR146 |
c.G404A |
p.R135Q |
0.0017 |
GPR146 |
| chr19 |
1058185 |
rs576938426 |
ABCA7 |
c.C5065T |
p.L1689F |
0.0006 |
ABCA7 |
| chr7 |
1058440 |
rs368953737 |
GPR146 |
c.C925T |
p.R309W |
5.81E-05 |
GPR146 |
| chr19 |
1058940 |
rs530249460 |
ABCA7 |
c.G5400C |
p.K1800N |
0.0001 |
ABCA7 |
| chr5 |
1076201 |
. |
SLC12A7 |
c.C1784A |
p.A595D |
|
SLC12A7 |
| chr19 |
1077879 |
. |
ARHGAP45 |
c.G1220A |
p.R407H |
|
ARHGAP45 |
| chr16 |
1079287 |
rs773082314 |
SSTR5 |
c.C419T |
p.A140V |
2.55E-05 |
SSTR5 |
| chr19 |
1085913 |
rs147739351 |
ARHGAP45 |
c.C3330A |
p.N1110K |
0.0004 |
ARHGAP45 |
| chr1 |
1085920 |
rs199905391 |
C1orf159 |
c.C511T |
p.R171C |
8.37E-06 |
C1orf159 |
| chr20 |
1165064 |
. |
PSMF1 |
c.A800G |
p.D267G |
|
PSMF1 |
| chr2 |
1173095 |
rs28505970 |
SNTG2 |
c.C503A |
p.S168Y |
0.1629 |
SNTG2 |
| chr20 |
1181227 |
rs749097687 |
TMEM74B |
c.T320C |
p.V107A |
9.08E-05 |
TMEM74B |
| chr12 |
1189974 |
. |
ERC1 |
c.T2273C |
p.V758A |
|
ERC1 |
| chr1 |
1197156 |
rs764129576 |
TTLL10 |
c.G1582T |
p.V528F |
0.0001 |
TTLL10 |
| chr16 |
1201709 |
. |
CACNA1H |
c.C1259T |
p.T420M |
|
CACNA1H |
| chr16 |
1204361 |
rs28365117 |
CACNA1H |
c.A2354T |
p.K785M |
0.0039 |
CACNA1H |
| chr16 |
1208171 |
rs370833327 |
CACNA1H |
c.C3313T |
p.R1105C |
0.0007 |
CACNA1H |
| chr1 |
1212701 |
. |
TNFRSF4 |
c.G374T |
p.C125F |
|
TNFRSF4 |
| chr16 |
1218513 |
rs552691524 |
CACNA1H |
c.C5731T |
p.R1911C |
0.0028 |
CACNA1H |
| chr5 |
1218916 |
rs760886608 |
SLC6A19 |
c.C1187G |
p.T396R |
3.32E-05 |
SLC6A19 |
| chr16 |
1222206 |
. |
TPSG1 |
c.A647G |
p.D216G |
|
TPSG1 |
| chr16 |
1222750 |
rs113856625 |
TPSG1 |
c.C413T |
p.S138F |
0.0535 |
TPSG1 |
| chr16 |
1223558 |
rs201153431 |
TPSG1 |
c.G110A |
p.R37Q |
0.002 |
TPSG1 |
| chr16 |
1223592 |
. |
TPSG1 |
c.T76A |
p.C26S |
|
TPSG1 |
| chr5 |
1232293 |
rs113861454 |
SLC6A18 |
c.G235A |
p.G79S |
0.0538 |
SLC6A18 |
| chr11 |
1233160 |
rs747846001 |
MUC5B |
c.C2213A |
p.T738N |
0.0001 |
MUC5B |
| chr11 |
1233186 |
rs764281334 |
MUC5B |
c.G2239A |
p.V747M |
0.0001 |
MUC5B |
| chr19 |
1233491 |
. |
CBARP |
c.C914G |
p.P305R |
|
CBARP |
| chr11 |
1234231 |
rs554418515 |
MUC5B |
c.G2404T |
p.D802Y |
0.0004 |
MUC5B |
| chr7 |
1235864 |
. |
UNCX |
c.G483T |
p.R161S |
|
UNCX |
| chr19 |
1242484 |
rs779769527 |
ATP5D |
c.A170G |
p.Q57R |
0.0011 |
ATP5D |
| chr5 |
1242720 |
. |
SLC6A18 |
c.C988T |
p.L330F |
|
SLC6A18 |
| chr1 |
1243973 |
. |
C1QTNF12 |
c.A512T |
p.E171V |
|
C1QTNF12 |
| chr1 |
1244434 |
rs774799617 |
C1QTNF12 |
c.C241T |
p.R81W |
6.85E-05 |
C1QTNF12 |
| chr11 |
1246272 |
rs141653894 |
MUC5B |
c.C9392T |
p.T3131M |
0.0435 |
MUC5B |
| chr11 |
1247733 |
rs201155330 |
MUC5B |
c.G10853A |
p.R3618H |
0.0007 |
MUC5B |
| chr11 |
1249356 |
rs201712842 |
MUC5B |
c.G12476A |
p.R4159H |
0.0141 |
MUC5B |
| chr20 |
1254407 |
. |
RAD21L1 |
c.C1621T |
p.P541S |
|
RAD21L1 |
| chr16 |
1256641 |
rs61739908 |
TPSD1 |
c.C208T |
p.L70F |
0.1478 |
TPSD1 |
| chr1 |
1287748 |
. |
SCNN1D |
c.T1475A |
p.M492K |
|
SCNN1D |
| chr1 |
1310913 |
rs571929121 |
PUSL1 |
c.G773A |
p.R258Q |
0.0006 |
PUSL1 |
| chr20 |
1312345 |
rs4814111 |
SDCBP2 |
c.G724A |
p.G242R |
0.0686 |
SDCBP2 |
| chr6 |
1312763 |
rs148598230 |
FOXQ1 |
c.T59C |
p.L20P |
0.0548 |
FOXQ1 |
| chr3 |
1321796 |
rs41293401 |
CNTN6 |
c.G596A |
p.R199Q |
0.0056 |
CNTN6 |
| chr1 |
1327255 |
rs142934629 |
CPTP |
c.T137A |
p.L46Q |
0.002 |
CPTP |
| chr1 |
1331730 |
rs776847816 |
TAS1R3 |
c.T284C |
p.L95P |
1.68E-05 |
TAS1R3 |
| chr1 |
1332244 |
rs186067621 |
TAS1R3 |
c.C713T |
p.A238V |
0.0016 |
TAS1R3 |
| chr1 |
1333379 |
. |
TAS1R3 |
c.G1600C |
p.D534H |
|
TAS1R3 |
| chr1 |
1333839 |
rs201675765 |
TAS1R3 |
c.C1934T |
p.T645M |
0.0002 |
TAS1R3 |
| chr1 |
1339584 |
rs368319147 |
DVL1 |
c.G1052T |
p.R351L |
|
DVL1 |
| chr16 |
1341184 |
rs141276912 |
BAIAP3 |
c.A575G |
p.K192R |
0.0011 |
BAIAP3 |
| chr16 |
1348184 |
rs201064433 |
BAIAP3 |
c.G3289A |
p.A1097T |
7.22E-05 |
BAIAP3 |
| chr1 |
1354682 |
. |
MXRA8 |
c.G949T |
p.D317Y |
|
MXRA8 |
| chr1 |
1354957 |
. |
MXRA8 |
c.T674A |
p.L225H |
|
MXRA8 |
| chr16 |
1361927 |
rs753385216 |
GNPTG |
c.C289T |
p.R97C |
8.34E-06 |
GNPTG |
| chr10 |
1379109 |
rs527533816 |
ADARB2 |
c.C152G |
p.P51R |
0.0007 |
ADARB2 |
| chr1 |
1387374 |
rs200276576 |
CCNL2 |
c.C1027T |
p.R343W |
0.0001 |
CCNL2 |
| chr19 |
1397381 |
rs776537906 |
GAMT |
c.C689T |
p.T230M |
2.72E-05 |
GAMT |
| chr1 |
1452384 |
rs9793256 |
ATAD3C |
c.G172A |
p.G58R |
0.2282 |
ATAD3C |
| chr20 |
1452563 |
rs201890755 |
NSFL1C |
c.C622T |
p.R208W |
8.24E-06 |
NSFL1C |
| chr19 |
1457003 |
rs143870588 |
APC2 |
c.G964C |
p.G322R |
0.0109 |
APC2 |
| chr1 |
1462677 |
rs368568045 |
ATAD3C |
c.G1058A |
p.R353Q |
4.15E-05 |
ATAD3C |
| chr19 |
1465306 |
rs149484068 |
APC2 |
c.G2002A |
p.V668M |
9.97E-06 |
APC2 |
| chr7 |
1474238 |
. |
INTS1 |
c.C5759G |
p.P1920R |
|
INTS1 |
| chr7 |
1479461 |
. |
INTS1 |
c.G4298A |
p.C1433Y |
|
INTS1 |
| chr11 |
1480743 |
. |
MOB2 |
c.G253A |
p.E85K |
|
MOB2 |
| chr7 |
1480892 |
. |
INTS1 |
c.G3892A |
p.A1298T |
|
INTS1 |
| chr1 |
1486611 |
rs860213 |
ATAD3B |
c.G1019A |
p.R340Q |
0.2149 |
ATAD3B |
| chr7 |
1487439 |
rs750043714 |
INTS1 |
c.C2527T |
p.R843W |
9.84E-06 |
INTS1 |
| chr16 |
1487600 |
rs2667674 |
PTX4 |
c.T512C |
p.L171P |
0.0912 |
PTX4 |
| chr16 |
1497438 |
rs374512269 |
TELO2 |
c.C760T |
p.R254C |
4.94E-05 |
TELO2 |
| chr16 |
1502979 |
rs146401595 |
TELO2 |
c.C1819T |
p.R607W |
0.0011 |
TELO2 |
| chr19 |
1506032 |
rs144153954 |
ADAMTSL5 |
c.C1399T |
p.R467W |
0.0092 |
ADAMTSL5 |
| chr19 |
1507271 |
rs149051157 |
ADAMTSL5 |
c.G823A |
p.G275R |
0.0021 |
ADAMTSL5 |
| chr16 |
1507327 |
rs746207169 |
TELO2 |
c.G2248C |
p.A750P |
1.68E-05 |
TELO2 |
| chr19 |
1508495 |
. |
ADAMTSL5 |
c.G437A |
p.G146D |
|
ADAMTSL5 |
| chr19 |
1510691 |
. |
ADAMTSL5 |
c.T139C |
p.C47R |
|
ADAMTSL5 |
| chr16 |
1520280 |
rs755460299 |
IFT140 |
c.A3724G |
p.R1242G |
1.65E-05 |
IFT140 |
| chr20 |
1551702 |
. |
SIRPD |
c.T410G |
p.V137G |
|
SIRPD |
| chr16 |
1571518 |
rs150903791 |
IFT140 |
c.T1541A |
p.L514H |
0.0043 |
IFT140 |
| chr20 |
1611443 |
. |
SIRPB1 |
c.G347T |
p.G116V |
|
SIRPB1 |
| chr1 |
1623574 |
rs763099461 |
MIB2 |
c.G122A |
p.R41H |
0.0001 |
MIB2 |
| chr1 |
1626889 |
rs578020266 |
MIB2 |
c.G935A |
p.R312H |
0.0003 |
MIB2 |
| chr1 |
1626981 |
rs776765127 |
MIB2 |
c.C1027T |
p.R343C |
1.01E-05 |
MIB2 |
| chr19 |
1627366 |
rs35354874 |
TCF3 |
c.T359C |
p.L120P |
0.0257 |
TCF3 |
| chr1 |
1628380 |
. |
MIB2 |
c.C1754A |
p.A585D |
|
MIB2 |
| chr1 |
1630510 |
. |
MIB2 |
c.C2998A |
p.R1000S |
|
MIB2 |
| chr2 |
1648971 |
rs373870490 |
PXDN |
c.C2809T |
p.R937W |
0.0002 |
PXDN |
| chr4 |
1655123 |
rs62287701 |
FAM53A |
c.C737T |
p.T246M |
0.0175 |
FAM53A |
| chr4 |
1717200 |
. |
TMEM129 |
c.G1069T |
p.D357Y |
|
TMEM129 |
| chr7 |
1745906 |
rs773552624 |
ELFN1 |
c.A1310G |
p.Y437C |
0 |
ELFN1 |
| chr1 |
1754365 |
rs149269930 |
NADK |
c.A766T |
p.I256F |
0.0011 |
NADK |
| chr19 |
1754397 |
. |
ONECUT3 |
c.C735A |
p.F245L |
|
ONECUT3 |
| chr19 |
1754831 |
. |
ONECUT3 |
c.G1169T |
p.R390L |
|
ONECUT3 |
| chr16 |
1775922 |
rs199869634 |
EME2 |
c.G905A |
p.R302Q |
0.0002 |
EME2 |
| chr16 |
1776227 |
rs143305780 |
EME2 |
c.C1129A |
p.L377M |
0.0017 |
EME2 |
| chr17 |
1776553 |
rs369314029 |
SERPINF1 |
c.G247A |
p.G83R |
0.0002 |
SERPINF1 |
| chr16 |
1778507 |
rs142760336 |
SPSB3 |
c.G232A |
p.E78K |
0.0003 |
SPSB3 |
| chr16 |
1787788 |
rs150174780 |
NUBP2 |
c.G23A |
p.R8H |
5.89E-05 |
NUBP2 |
| chr19 |
1796194 |
. |
ATP8B3 |
c.G1684T |
p.V562L |
|
ATP8B3 |
| chr19 |
1796804 |
rs201814416 |
ATP8B3 |
c.C1519T |
p.R507W |
0.0005 |
ATP8B3 |
| chr17 |
1799881 |
rs757078660 |
SMYD4 |
c.G1513T |
p.A505S |
2.59E-05 |
SMYD4 |
| chr17 |
1800249 |
rs3809875 |
SMYD4 |
c.C1145G |
p.P382R |
0.2779 |
SMYD4 |
| chr17 |
1801002 |
rs7224496 |
SMYD4 |
c.G392T |
p.R131I |
0.3875 |
SMYD4 |
| chr1 |
1815790 |
rs141326438 |
GNB1 |
c.A169G |
p.K57E |
0.0002 |
GNB1 |
| chr11 |
1835886 |
. |
SYT8 |
c.G298A |
p.V100M |
|
SYT8 |
| chr11 |
1837032 |
rs484955 |
SYT8 |
c.C905T |
p.T302M |
0.1483 |
SYT8 |
| chr16 |
1853104 |
. |
MEIOB |
c.T713G |
p.F238C |
|
MEIOB |
| chr19 |
1877283 |
. |
ABHD17A |
c.C850A |
p.H284N |
|
ABHD17A |
| chr12 |
1886278 |
. |
CACNA2D4 |
c.C938T |
p.T313I |
|
CACNA2D4 |
| chr17 |
1888714 |
rs139432886 |
RPA1 |
c.C1414T |
p.R472C |
3.3E-05 |
RPA1 |
| chr12 |
1913030 |
rs202054008 |
CACNA2D4 |
c.C419G |
p.A140G |
0.0024 |
CACNA2D4 |
| chr1 |
1917065 |
. |
CALML6 |
c.G439T |
p.D147Y |
|
CALML6 |
| chr1 |
1918035 |
. |
TMEM52 |
c.A477C |
p.E159D |
|
TMEM52 |
| chr11 |
1936982 |
rs747756859 |
TNNT3 |
c.G677A |
p.R226H |
5.77E-05 |
TNNT3 |
| chr16 |
1947003 |
rs113956264 |
RPL3L |
c.G784A |
p.V262M |
0.0255 |
RPL3L |
| chr16 |
1947006 |
rs756908767 |
RPL3L |
c.C781T |
p.R261C |
1.68E-05 |
RPL3L |
| chr16 |
1959629 |
rs765628078 |
NDUFB10 |
c.C5T |
p.P2L |
3.23E-05 |
NDUFB10 |
| chr16 |
1967803 |
rs146108433 |
RNF151 |
c.T228G |
p.I76M |
0.0096 |
RNF151 |
| chr16 |
1968577 |
rs45488492 |
RNF151 |
c.C390G |
p.H130Q |
0.0563 |
RNF151 |
| chr16 |
1974634 |
rs138822494 |
TBL3 |
c.G334A |
p.V112M |
0.0001 |
TBL3 |
| chr16 |
1977282 |
. |
TBL3 |
c.A1669G |
p.K557E |
|
TBL3 |
| chr16 |
1992649 |
rs140958780 |
SYNGR3 |
c.C351A |
p.F117L |
0.0043 |
SYNGR3 |
| chr19 |
1993126 |
. |
BTBD2 |
c.C578T |
p.T193M |
|
BTBD2 |
| chr19 |
1993157 |
. |
BTBD2 |
c.G547A |
p.V183M |
|
BTBD2 |
| chr16 |
1999082 |
rs771294666 |
ZNF598 |
c.C2093A |
p.P698Q |
0.0001 |
ZNF598 |
| chr16 |
2036421 |
rs555526303 |
SLC9A3R2 |
c.G173A |
p.R58Q |
6.59E-05 |
SLC9A3R2 |
| chr16 |
2040181 |
rs577781337 |
NTHL1 |
c.C413T |
p.T138I |
0.0003 |
NTHL1 |
| chr16 |
2044644 |
rs561923127 |
NTHL1 |
c.G181A |
p.V61I |
2.54E-05 |
NTHL1 |
| chr8 |
2072440 |
rs538305376 |
MYOM2 |
c.C889G |
p.L297V |
0.0001 |
MYOM2 |
| chr8 |
2072447 |
rs373509557 |
MYOM2 |
c.G896T |
p.C299F |
8.29E-06 |
MYOM2 |
| chr8 |
2076236 |
rs200681518 |
MYOM2 |
c.C1216T |
p.P406S |
0.002 |
MYOM2 |
| chr19 |
2076888 |
rs746262774 |
MOB3A |
c.G547A |
p.V183M |
1.66E-05 |
MOB3A |
| chr16 |
2090317 |
rs376852054 |
PKD1 |
c.C12412T |
p.R4138C |
3.41E-05 |
PKD1 |
| chr8 |
2098870 |
rs2294066 |
MYOM2 |
c.C2327T |
p.T776M |
0.1563 |
MYOM2 |
| chr16 |
2105927 |
rs376429519 |
PKD1 |
c.C7801T |
p.R2601W |
9.84E-05 |
PKD1 |
| chr16 |
2108679 |
rs145217118 |
PKD1 |
c.G6488A |
p.R2163Q |
0.0037 |
PKD1 |
| chr16 |
2109207 |
rs527929848 |
PKD1 |
c.G5960A |
p.G1987D |
0.0001 |
PKD1 |
| chr16 |
2110773 |
rs777140825 |
PKD1 |
c.C4394T |
p.P1465L |
8.59E-06 |
PKD1 |
| chr16 |
2111823 |
rs552292318 |
PKD1 |
c.C3344T |
p.T1115M |
0.0003 |
PKD1 |
| chr16 |
2119363 |
. |
PKD1 |
c.C231G |
p.N77K |
|
PKD1 |
| chr19 |
2137789 |
. |
AP3D1 |
c.G211A |
p.D71N |
|
AP3D1 |
| chr11 |
2164252 |
. |
TH |
c.C1556A |
p.A519E |
|
TH |
| chr11 |
2171782 |
rs139474171 |
TH |
c.C5T |
p.P2L |
0.0004 |
TH |
| chr16 |
2179616 |
rs201211065 |
CASKIN1 |
c.C3752T |
p.P1251L |
0.0223 |
CASKIN1 |
| chr16 |
2180715 |
. |
CASKIN1 |
c.C2653T |
p.R885C |
|
CASKIN1 |
| chr16 |
2181024 |
rs183093419 |
CASKIN1 |
c.A2344G |
p.K782E |
0.0063 |
CASKIN1 |
| chr16 |
2185118 |
. |
CASKIN1 |
c.G1232C |
p.G411A |
|
CASKIN1 |
| chr16 |
2209409 |
rs111384111 |
BRICD5 |
c.C640T |
p.P214S |
0.0035 |
BRICD5 |
| chr16 |
2214368 |
. |
PGP |
c.G410T |
p.G137V |
|
PGP |
| chr16 |
2214473 |
. |
PGP |
c.C305T |
p.A102V |
|
PGP |
| chr7 |
2219363 |
rs561869058 |
MAD1L1 |
c.G289A |
p.E97K |
0.0007 |
MAD1L1 |
| chr19 |
2226848 |
rs113842228 |
DOT1L |
c.G4327T |
p.G1443C |
0.039 |
DOT1L |
| chr16 |
2229628 |
rs200326283 |
E4F1 |
c.A368G |
p.E123G |
0.0003 |
E4F1 |
| chr19 |
2236193 |
rs572154067 |
PLEKHJ1 |
c.C56T |
p.A19V |
0.0132 |
PLEKHJ1 |
| chr16 |
2237843 |
rs745600592 |
DNASE1L2 |
c.G668C |
p.R223T |
2.74E-05 |
DNASE1L2 |
| chr19 |
2243456 |
. |
SF3A2 |
c.G38T |
p.S13I |
|
SF3A2 |
| chr16 |
2246876 |
rs141206306 |
ECI1 |
c.G277A |
p.G93S |
0.0091 |
ECI1 |
| chr7 |
2249951 |
rs4866 |
NUDT1 |
c.G316A |
p.V106M |
0.0206 |
NUDT1 |
| chr7 |
2249951 |
rs4866 |
NUDT1 |
c.G247A |
p.V83M |
0.0206 |
NUDT1 |
| chr19 |
2250426 |
rs768050453 |
AMH |
c.C502A |
p.P168T |
0.0004 |
AMH |
| chr19 |
2251812 |
rs566876047 |
AMH |
c.T1538C |
p.M513T |
0.0005 |
AMH |
| chr19 |
2253641 |
. |
JSRP1 |
c.T415C |
p.S139P |
|
JSRP1 |
| chr19 |
2253652 |
. |
JSRP1 |
c.C404T |
p.A135V |
|
JSRP1 |
| chr4 |
2261924 |
. |
MXD4 |
c.G57T |
p.R19S |
|
MXD4 |
| chr17 |
2299881 |
rs1885986 |
SMG6 |
c.G872C |
p.R291P |
0.2929 |
SMG6 |
| chr17 |
2299995 |
rs780358862 |
SMG6 |
c.G758A |
p.R253H |
4.94E-05 |
SMG6 |
| chr17 |
2324335 |
rs201986401 |
TSR1 |
c.T2276G |
p.L759R |
0.0004 |
TSR1 |
| chr17 |
2324361 |
rs35343613 |
TSR1 |
c.C2250A |
p.H750Q |
0.0253 |
TSR1 |
| chr4 |
2353976 |
. |
ZFYVE28 |
c.C137A |
p.P46H |
|
ZFYVE28 |
| chr17 |
2372237 |
rs201675265 |
SGSM2 |
c.C1490T |
p.S497F |
0.0009 |
SGSM2 |
| chr17 |
2373043 |
. |
SGSM2 |
c.C1744T |
p.H582Y |
|
SGSM2 |
| chr1 |
2385892 |
rs772641540 |
MORN1 |
c.G364A |
p.G122R |
2.48E-05 |
MORN1 |
| chr20 |
2400338 |
rs200341133 |
TGM6 |
c.G883A |
p.V295M |
0.0013 |
TGM6 |
| chr11 |
2403129 |
. |
TSSC4 |
c.A304G |
p.S102G |
|
TSSC4 |
| chr11 |
2421155 |
rs552166045 |
TRPM5 |
c.G342C |
p.R114S |
0.0008 |
TRPM5 |
| chr19 |
2421968 |
rs567914070 |
TMPRSS9 |
c.C2167T |
p.R723C |
6.67E-05 |
TMPRSS9 |
| chr16 |
2472728 |
rs201961012 |
NTN3 |
c.G956A |
p.R319H |
0.0001 |
NTN3 |
| chr16 |
2473110 |
rs141616597 |
NTN3 |
c.C1243T |
p.R415C |
0.0014 |
NTN3 |
| chr16 |
2473912 |
. |
NTN3 |
c.C1550A |
p.P517Q |
|
NTN3 |
| chr7 |
2520102 |
. |
LFNG |
c.C241A |
p.L81I |
|
LFNG |
| chr7 |
2538703 |
. |
BRAT1 |
c.C1307T |
p.A436V |
|
BRAT1 |
| chr7 |
2538737 |
rs56727079 |
BRAT1 |
c.C1273T |
p.L425F |
0.056 |
BRAT1 |
| chr7 |
2542173 |
rs150942467 |
BRAT1 |
c.T437G |
p.L146R |
0.0103 |
BRAT1 |
| chr12 |
2566548 |
. |
CACNA1C |
c.C1635A |
p.H545Q |
|
CACNA1C |
| chr7 |
2571580 |
rs367876515 |
IQCE |
c.C137T |
p.T46M |
0.0003 |
IQCE |
| chr18 |
2578141 |
rs572698153 |
NDC80 |
c.G476C |
p.G159A |
4.98E-05 |
NDC80 |
| chr7 |
2647568 |
. |
TTYH3 |
c.C556A |
p.P186T |
|
TTYH3 |
| chr6 |
2678307 |
rs35609073 |
MYLK4 |
c.G1121A |
p.C374Y |
0.0019 |
MYLK4 |
| chr20 |
2693701 |
. |
EBF4 |
c.C44A |
p.P15Q |
|
EBF4 |
| chr7 |
2712712 |
rs113735463 |
AMZ1 |
c.C1331T |
p.T444M |
0.0015 |
AMZ1 |
| chr16 |
2712802 |
rs771025868 |
PRSS27 |
c.G385A |
p.G129S |
0.0002 |
PRSS27 |
| chr19 |
2737179 |
rs769054198 |
SLC39A3 |
c.G79A |
p.V27M |
|
SLC39A3 |
| chr20 |
2752384 |
. |
EBF4 |
c.C1367T |
p.S456F |
|
EBF4 |
| chrY |
2787202 |
. |
SRY |
c.G402T |
p.K134N |
|
SRY |
| chr12 |
2800501 |
. |
FKBP4 |
c.T956C |
p.L319P |
|
FKBP4 |
| chr20 |
2815605 |
rs576728084 |
C20orf141 |
c.G328A |
p.G110S |
0.0004 |
C20orf141 |
| chr16 |
2821450 |
rs569822792 |
PRSS21 |
c.C748T |
p.R250W |
0.0012 |
PRSS21 |
| chr12 |
2822800 |
rs751656032 |
ITFG2 |
c.G955A |
p.G319R |
2.47E-05 |
ITFG2 |
| chr19 |
2834611 |
rs182872936 |
ZNF554 |
c.C1376T |
p.T459M |
2.48E-05 |
ZNF554 |
| chr20 |
2839007 |
rs371631991 |
PCED1A |
c.C280T |
p.R94C |
|
PCED1A |
| chr12 |
2859050 |
rs201504517 |
FOXM1 |
c.C1832T |
p.T611M |
0.0008 |
FOXM1 |
| chr20 |
2864978 |
rs199753911 |
VPS16 |
c.C1495T |
p.R499C |
0.0016 |
VPS16 |
| chr20 |
2865406 |
rs61729229 |
VPS16 |
c.T1750C |
p.W584R |
0.0068 |
VPS16 |
| chr11 |
2884708 |
. |
CDKN1C |
c.G749T |
p.G250V |
|
CDKN1C |
| chr4 |
2898254 |
. |
ADD1 |
c.A812G |
p.H271R |
|
ADD1 |
| chr4 |
2904980 |
rs4961 |
ADD1 |
c.G1378T |
p.G460W |
0.2019 |
ADD1 |
| chr4 |
2933197 |
rs563475962 |
MFSD10 |
c.C281T |
p.S94L |
5.99E-05 |
MFSD10 |
| chr16 |
2933276 |
rs377699630 |
FLYWCH1 |
c.C943T |
p.R315W |
0.0006 |
FLYWCH1 |
| chr16 |
2937288 |
. |
FLYWCH1 |
c.G1681T |
p.V561F |
|
FLYWCH1 |
| chr12 |
2938271 |
rs544419371 |
TULP3 |
c.T1181C |
p.V394A |
0.0002 |
TULP3 |
| chr4 |
2939269 |
rs148382749 |
NOP14 |
c.G2393T |
p.R798L |
0.0001 |
NOP14 |
| chr4 |
2941692 |
rs61740573 |
NOP14 |
c.C2089T |
p.R697C |
0.0088 |
NOP14 |
| chr6 |
2948315 |
rs201117044 |
SERPINB6 |
c.C1114T |
p.R372C |
1.65E-05 |
SERPINB6 |
| chr4 |
2963181 |
. |
NOP14 |
c.A139C |
p.K47Q |
|
NOP14 |
| chr16 |
2967965 |
. |
KREMEN2 |
c.G1217T |
p.R406L |
|
KREMEN2 |
| chr16 |
2971918 |
rs141132998 |
PAQR4 |
c.G591C |
p.W197C |
0.0009 |
PAQR4 |
| chr4 |
2988736 |
. |
GRK4 |
c.A158G |
p.Y53C |
|
GRK4 |
| chrX |
3010130 |
rs189249374 |
ARSH |
c.G193A |
p.G65S |
0.0001 |
ARSH |
| chr4 |
3013688 |
. |
GRK4 |
c.G19T |
p.V7F |
|
GRK4 |
| chr4 |
3013710 |
. |
GRK4 |
c.C41A |
p.A14D |
|
GRK4 |
| chr16 |
3013834 |
rs752351415 |
CLDN9 |
c.C472T |
p.R158W |
3.47E-05 |
CLDN9 |
| chrX |
3014973 |
rs750230033 |
ARSH |
c.A344G |
p.K115R |
3.82E-05 |
ARSH |
| chr1 |
3022045 |
. |
ACTRT2 |
c.G359T |
p.R120L |
|
ACTRT2 |
| chr1 |
3022360 |
rs72629486 |
ACTRT2 |
c.T674G |
p.L225W |
0.0142 |
ACTRT2 |
| chr1 |
3022425 |
rs3795263 |
ACTRT2 |
c.G739A |
p.G247R |
0.1763 |
ACTRT2 |
| chrX |
3027436 |
rs61751925 |
ARSH |
c.C1160T |
p.T387M |
0.0687 |
ARSH |
| chr16 |
3029684 |
rs2244494 |
BICDL2 |
c.A818G |
p.Q273R |
0.3613 |
BICDL2 |
| chr16 |
3030997 |
rs534898547 |
BICDL2 |
c.C436T |
p.R146W |
0.0002 |
BICDL2 |
| chr4 |
3035486 |
rs34022679 |
GRK4 |
c.T788C |
p.L263P |
0.0179 |
GRK4 |
| chr16 |
3057035 |
rs762354889 |
MMP25 |
c.G664T |
p.G222C |
9.01E-06 |
MMP25 |
| chr18 |
3067534 |
rs375965840 |
MYOM1 |
c.G4498A |
p.V1500M |
0.0002 |
MYOM1 |
| chr20 |
3083136 |
. |
AVP |
c.C163T |
p.P55S |
|
AVP |
| chr18 |
3089183 |
. |
MYOM1 |
c.G3840T |
p.L1280F |
|
MYOM1 |
| chr17 |
3092278 |
rs4300683 |
OR1D2 |
c.C719T |
p.T240I |
0.1027 |
OR1D2 |
| chr11 |
3101656 |
rs547003210 |
OSBPL5 |
c.G1265A |
p.R422Q |
8.31E-06 |
OSBPL5 |
| chr18 |
3119949 |
rs557671408 |
MYOM1 |
c.C2750T |
p.A917V |
0.0041 |
MYOM1 |
| chr4 |
3135947 |
rs363075 |
HTT |
c.G2677A |
p.G893R |
0.0428 |
HTT |
| chr3 |
3147573 |
. |
TRNT1 |
c.T866G |
p.L289W |
|
TRNT1 |
| chr6 |
3152526 |
rs2231370 |
BPHL |
c.T776C |
p.L259S |
0.0154 |
BPHL |
| chr6 |
3152528 |
rs201051901 |
BPHL |
c.C778T |
p.R260C |
0.0001 |
BPHL |
| chr6 |
3152547 |
rs140507260 |
BPHL |
c.A797G |
p.N266S |
0.002 |
BPHL |
| chr10 |
3157527 |
rs561396436 |
PITRM1 |
c.G1231A |
p.G411R |
0.0002 |
PITRM1 |
| chr18 |
3168822 |
rs558801546 |
MYOM1 |
c.G1334T |
p.R445I |
0.0001 |
MYOM1 |
| chr17 |
3198284 |
rs2241091 |
OR1A2 |
c.G766T |
p.G256C |
0.3404 |
OR1A2 |
| chr16 |
3204293 |
rs142486394 |
OR1F1 |
c.G47C |
p.G16A |
0.0017 |
OR1F1 |
| chr17 |
3292209 |
rs703903 |
OR3A1 |
c.G374A |
p.R125Q |
0.5614 |
OR3A1 |
| chr16 |
3355986 |
rs1218762 |
OR2C1 |
c.G46A |
p.G16S |
0.2644 |
OR2C1 |
| chr20 |
3376239 |
rs140971067 |
C20orf194 |
c.A347G |
p.Y116C |
0.0022 |
C20orf194 |
| chr16 |
3384773 |
rs764465833 |
ZSCAN32 |
c.G701A |
p.R234H |
3.3E-05 |
ZSCAN32 |
| chr16 |
3443152 |
. |
ZNF597 |
c.T2G |
p.M1R |
|
ZNF597 |
| chr4 |
3446163 |
rs370096728 |
HGFAC |
c.C1245G |
p.I415M |
0.0004 |
HGFAC |
| chr4 |
3448244 |
rs370129244 |
HGFAC |
c.G1774A |
p.G592S |
4E-05 |
HGFAC |
| chr4 |
3449351 |
rs559231140 |
HGFAC |
c.G1921A |
p.V641M |
0.0021 |
HGFAC |
| chr1 |
3473431 |
rs539145625 |
ARHGEF16 |
c.T1214G |
p.I405S |
0.0023 |
ARHGEF16 |
| chr19 |
3478839 |
rs377295257 |
SMIM24 |
c.G158A |
p.R53H |
0.0043 |
SMIM24 |
| chr19 |
3492303 |
. |
DOHH |
c.G548T |
p.R183L |
|
DOHH |
| chr1 |
3507824 |
rs947345 |
MEGF6 |
c.C1760T |
p.P587L |
0.0477 |
MEGF6 |
| chr16 |
3508389 |
rs79133712 |
CLUAP1 |
c.C320T |
p.A107V |
0.0292 |
CLUAP1 |
| chr1 |
3509884 |
. |
MEGF6 |
c.G1343C |
p.R448P |
|
MEGF6 |
| chr1 |
3511639 |
. |
MEGF6 |
c.G1025A |
p.C342Y |
|
MEGF6 |
| chr17 |
3532694 |
rs144323237 |
TRPV3 |
c.C1028T |
p.T343M |
4.14E-05 |
TRPV3 |
| chr19 |
3543236 |
rs73920156 |
C19orf71 |
c.G85T |
p.D29Y |
0.0005 |
C19orf71 |
| chr19 |
3543882 |
rs115888985 |
C19orf71 |
c.G502A |
p.V168M |
0.0455 |
C19orf71 |
| chr16 |
3544316 |
rs74760019 |
NLRC3 |
c.G2785A |
p.A929T |
0.0162 |
NLRC3 |
| chr20 |
3547418 |
rs536310570 |
ATRN |
c.G524T |
p.C175F |
6.59E-05 |
ATRN |
| chr19 |
3557197 |
. |
MFSD12 |
c.C207A |
p.D69E |
|
MFSD12 |
| chr16 |
3589826 |
rs3810813 |
SLX4 |
c.C3812T |
p.S1271F |
0.0642 |
SLX4 |
| chr17 |
3590985 |
. |
TRPV1 |
c.T583C |
p.Y195H |
|
TRPV1 |
| chr16 |
3594514 |
rs373081094 |
SLX4 |
c.G2099A |
p.G700E |
0.0001 |
SLX4 |
| chr16 |
3606624 |
rs79842542 |
SLX4 |
c.C610T |
p.R204C |
0.0642 |
SLX4 |
| chr12 |
3627492 |
. |
CRACR2A |
c.G1876A |
p.D626N |
|
CRACR2A |
| chr1 |
3627628 |
. |
TPRG1L |
c.A599G |
p.D200G |
|
TPRG1L |
| chr1 |
3631558 |
rs151110688 |
WRAP73 |
c.C1148T |
p.P383L |
0.0047 |
WRAP73 |
| chr11 |
3639752 |
rs372472425 |
ART5 |
c.C677G |
p.P226R |
6.6E-05 |
ART5 |
| chr11 |
3640045 |
rs749840441 |
ART5 |
c.T384G |
p.F128L |
6.6E-05 |
ART5 |
| chr16 |
3657335 |
rs199826318 |
DNASE1 |
c.A698G |
p.Y233C |
1.67E-05 |
DNASE1 |
| chr20 |
3661208 |
. |
GFRA4 |
c.G128A |
p.R43H |
|
GFRA4 |
| chr16 |
3664437 |
rs144787542 |
TRAP1 |
c.G1247A |
p.R416H |
0.0069 |
TRAP1 |
| chr11 |
3669328 |
rs55719530 |
CHRNA10 |
c.C230A |
p.T77N |
0.0149 |
CHRNA10 |
| chr16 |
3671772 |
rs1136948 |
TRAP1 |
c.C1026G |
p.D342E |
0.153 |
TRAP1 |
| chr16 |
3677573 |
rs540672961 |
TRAP1 |
c.T470C |
p.M157T |
0.001 |
TRAP1 |
| chr16 |
3686084 |
rs61758086 |
TRAP1 |
c.G224A |
p.R75H |
0.0033 |
TRAP1 |
| chr17 |
3688065 |
rs146166049 |
P2RX5 |
c.C856T |
p.R286C |
0.0028 |
P2RX5 |
| chr20 |
3690252 |
rs369196280 |
SIGLEC1 |
c.C4604T |
p.T1535M |
0.0063 |
SIGLEC1 |
| chr20 |
3693467 |
rs544860792 |
SIGLEC1 |
c.C3488T |
p.P1163L |
0.0006 |
SIGLEC1 |
| chr20 |
3701479 |
rs34924243 |
SIGLEC1 |
c.G1391A |
p.R464H |
0.0563 |
SIGLEC1 |
| chr20 |
3706419 |
rs201385984 |
SIGLEC1 |
c.T337C |
p.Y113H |
0.0006 |
SIGLEC1 |
| chr17 |
3725167 |
. |
HASPIN |
c.C1232A |
p.S411Y |
|
HASPIN |
| chr19 |
3730611 |
. |
TJP3 |
c.G545A |
p.G182E |
|
TJP3 |
| chr1 |
3731061 |
rs768327423 |
TP73 |
c.G1267A |
p.V423I |
3.58E-05 |
TP73 |
| chr17 |
3731123 |
rs766531421 |
ITGAE |
c.A2815T |
p.I939F |
7.41E-05 |
ITGAE |
| chr17 |
3732446 |
rs3744679 |
ITGAE |
c.G2676C |
p.Q892H |
0.0732 |
ITGAE |
| chr19 |
3734345 |
rs145208682 |
TJP3 |
c.C923T |
p.S308L |
0.0001 |
TJP3 |
| chr19 |
3750668 |
rs371169848 |
TJP3 |
c.C2771T |
p.P924L |
1.26E-05 |
TJP3 |
| chr6 |
3751528 |
. |
PXDC1 |
c.G4A |
p.A2T |
|
PXDC1 |
| chr19 |
3753876 |
rs34868972 |
APBA3 |
c.C900G |
p.I300M |
3.9E-05 |
APBA3 |
| chr17 |
3757758 |
rs71366574 |
ITGAE |
c.C968T |
p.T323M |
0.0227 |
ITGAE |
| chr1 |
3766595 |
rs144089943 |
CCDC27 |
c.A1513C |
p.N505H |
0.009 |
CCDC27 |
| chr19 |
3767358 |
rs372558303 |
MRPL54 |
c.C382T |
p.R128C |
0.0005 |
MRPL54 |
| chr19 |
3784857 |
. |
MATK |
c.C100T |
p.H34Y |
|
MATK |
| chr1 |
3787290 |
. |
LRRC47 |
c.C636G |
p.N212K |
|
LRRC47 |
| chr20 |
3800767 |
rs375465916 |
CDC25B |
c.G148A |
p.V50M |
9.33E-05 |
CDC25B |
| chr19 |
3819211 |
rs2301839 |
ZFR2 |
c.G1765A |
p.D589N |
0.0026 |
ZFR2 |
| chr17 |
3846117 |
rs12449334 |
NCBP3 |
c.A107C |
p.E36A |
0.0312 |
NCBP3 |
| chr7 |
3951025 |
rs34775958 |
SDK1 |
c.C950T |
p.A317V |
0.0078 |
SDK1 |
| chr16 |
3966008 |
. |
ADCY9 |
c.G3829A |
p.E1277K |
|
ADCY9 |
| chr7 |
3971567 |
rs555051428 |
SDK1 |
c.C1816T |
p.R606C |
0.0001 |
SDK1 |
| chr8 |
4032073 |
rs548910975 |
CSMD1 |
c.C442T |
p.P148S |
0.0004 |
CSMD1 |
| chr17 |
4076690 |
rs772354795 |
ZZEF1 |
c.C3181T |
p.L1061F |
2.5E-05 |
ZZEF1 |
| chr6 |
4087715 |
rs13200786 |
C6orf201 |
c.A74T |
p.D25V |
0.0581 |
C6orf201 |
| chr9 |
4118534 |
. |
GLIS3 |
c.A944G |
p.D315G |
|
GLIS3 |
| chr9 |
4118540 |
rs35154632 |
GLIS3 |
c.G938C |
p.G313A |
0.0078 |
GLIS3 |
| chr6 |
4130403 |
rs145899487 |
ECI2 |
c.G470A |
p.R157Q |
4.12E-05 |
ECI2 |
| chr17 |
4154817 |
rs142095753 |
CYB5D2 |
c.T199C |
p.W67R |
0.0004 |
CYB5D2 |
| chr19 |
4171162 |
rs758438696 |
CREB3L3 |
c.G956A |
p.G319D |
7.42E-05 |
CREB3L3 |
| chr20 |
4182836 |
rs199700652 |
SMOX |
c.C1198T |
p.R400C |
0.0003 |
SMOX |
| chr20 |
4182836 |
rs199700652 |
SMOX |
c.C1357T |
p.R453C |
0.0003 |
SMOX |
| chr17 |
4195086 |
rs745620490 |
ANKFY1 |
c.C1264A |
p.P422T |
7.46E-05 |
ANKFY1 |
| chr19 |
4210334 |
rs374562535 |
ANKRD24 |
c.C1021T |
p.R341W |
0.0049 |
ANKRD24 |
| chr19 |
4234789 |
rs199852649 |
EBI3 |
c.C502T |
p.R168C |
0.0002 |
EBI3 |
| chr4 |
4246276 |
. |
TMEM128 |
c.G165T |
p.W55C |
|
TMEM128 |
| chr19 |
4267684 |
rs149224144 |
CCDC94 |
c.C769T |
p.R257W |
0.0027 |
CCDC94 |
| chr4 |
4267965 |
rs201378892 |
LYAR |
c.T1064C |
p.L355P |
0.0008 |
LYAR |
| chr4 |
4306146 |
. |
ZBTB49 |
c.C1264A |
p.P422T |
|
ZBTB49 |
| chr19 |
4359194 |
rs34522164 |
MPND |
c.C1358T |
p.P453L |
0.0311 |
MPND |
| chr4 |
4387705 |
rs142822048 |
NSG1 |
c.C76T |
p.P26S |
0.0037 |
NSG1 |
| chr17 |
4445094 |
rs146383415 |
SPNS3 |
c.C328T |
p.R110C |
0.0024 |
SPNS3 |
| chr19 |
4446309 |
rs569734108 |
UBXN6 |
c.G866A |
p.R289H |
0.0005 |
UBXN6 |
| chr11 |
4450239 |
rs61997232 |
OR52K2 |
c.A900C |
p.Q300H |
0.0238 |
OR52K2 |
| chr19 |
4454043 |
rs576544561 |
UBXN6 |
c.G134A |
p.R45H |
0.0002 |
UBXN6 |
| chr3 |
4467091 |
. |
SUMF1 |
c.G155T |
p.C52F |
|
SUMF1 |
| chr19 |
4524004 |
rs1062223 |
PLIN5 |
c.C916T |
p.R306W |
0.1433 |
PLIN5 |
| chr17 |
4538965 |
rs746817244 |
MYBBP1A |
c.T3974G |
p.F1325C |
1.66E-05 |
MYBBP1A |
| chr17 |
4539965 |
rs373407355 |
MYBBP1A |
c.G3437A |
p.R1146H |
2.62E-05 |
MYBBP1A |
| chr17 |
4542624 |
rs370611519 |
MYBBP1A |
c.C3010T |
p.R1004W |
0.0008 |
MYBBP1A |
| chr17 |
4543158 |
rs375427927 |
MYBBP1A |
c.C2647A |
p.L883M |
0.0024 |
MYBBP1A |
| chr17 |
4545672 |
rs139356015 |
MYBBP1A |
c.C2011T |
p.R671W |
0.0044 |
MYBBP1A |
| chr17 |
4548158 |
rs56716962 |
MYBBP1A |
c.G1709A |
p.R570H |
0.0424 |
MYBBP1A |
| chr17 |
4555220 |
rs117128211 |
MYBBP1A |
c.C105A |
p.F35L |
0.0293 |
MYBBP1A |
| chr9 |
4561478 |
rs144425673 |
SLC1A1 |
c.G262A |
p.G88R |
0.0001 |
SLC1A1 |
| chr16 |
4576218 |
rs192982572 |
C16orf96 |
c.G1738A |
p.A580T |
0.0025 |
C16orf96 |
| chr16 |
4576314 |
rs546348818 |
C16orf96 |
c.G1834T |
p.A612S |
0.0008 |
C16orf96 |
| chr17 |
4584652 |
. |
SMTNL2 |
c.C47A |
p.A16E |
|
SMTNL2 |
| chr11 |
4587312 |
rs1847632 |
OR52I2 |
c.C500T |
p.T167M |
0.3486 |
OR52I2 |
| chr11 |
4594889 |
rs61997192 |
OR52I1 |
c.T851C |
p.L284P |
0.0365 |
OR52I1 |
| chr12 |
4599033 |
rs3741927 |
DYRK4 |
c.A566G |
p.N189S |
0.0284 |
DYRK4 |
| chr11 |
4600643 |
. |
TRIM68 |
c.T422G |
p.V141G |
|
TRIM68 |
| chr9 |
4625344 |
rs574415067 |
SPATA6L |
c.C478A |
p.P160T |
4.15E-05 |
SPATA6L |
| chr17 |
4632019 |
rs34210653 |
ALOX15 |
c.C1679T |
p.T560M |
0.0231 |
ALOX15 |
| chr17 |
4633270 |
rs202058747 |
ALOX15 |
c.G1294A |
p.A432T |
0.0018 |
ALOX15 |
| chr11 |
4640596 |
rs79020081 |
OR51D1 |
c.T806C |
p.I269T |
0.0606 |
OR51D1 |
| chr1 |
4712387 |
rs563247718 |
AJAP1 |
c.C517T |
p.R173W |
0.0006 |
AJAP1 |
| chr9 |
4713043 |
rs757819525 |
AK3 |
c.C407G |
p.P136R |
0.0001 |
AK3 |
| chr16 |
4736632 |
rs201059353 |
C16orf71 |
c.G118A |
p.D40N |
0.0004 |
C16orf71 |
| chr12 |
4739260 |
rs369783290 |
GALNT8 |
c.A607G |
p.S203G |
0.0004 |
GALNT8 |
| chr16 |
4746963 |
. |
C16orf71 |
c.G1218C |
p.E406D |
|
C16orf71 |
| chr16 |
4765786 |
. |
ZNF500 |
c.C193G |
p.R65G |
|
ZNF500 |
| chr11 |
4769241 |
rs1030723 |
OR51F1 |
c.C677T |
p.S226F |
0.1202 |
OR51F1 |
| chr16 |
4783705 |
. |
41153 |
c.G436A |
p.V146M |
2.49E-05 |
41153 |
| chr7 |
4785676 |
rs11772411 |
AP5Z1 |
c.T1124A |
p.L375Q |
0.1716 |
AP5Z1 |
| chr17 |
4786018 |
rs2279961 |
VMO1 |
c.C230G |
p.T77S |
0.1043 |
VMO1 |
| chr7 |
4787671 |
rs764872323 |
AP5Z1 |
c.T1349C |
p.F450S |
4.88E-05 |
AP5Z1 |
| chr17 |
4789653 |
rs567449261 |
GLTPD2 |
c.T314C |
p.L105P |
0.0004 |
GLTPD2 |
| chr7 |
4790589 |
rs200280538 |
AP5Z1 |
c.G1936A |
p.V646M |
0.0013 |
AP5Z1 |
| chr7 |
4791270 |
. |
AP5Z1 |
c.C2309G |
p.P770R |
|
AP5Z1 |
| chr7 |
4799678 |
rs766532873 |
RADIL |
c.G3074A |
p.R1025H |
4.14E-05 |
RADIL |
| chr17 |
4809158 |
rs778003297 |
PLD2 |
c.C442T |
p.P148S |
1.65E-05 |
PLD2 |
| chr17 |
4809304 |
rs557038351 |
PLD2 |
c.C496G |
p.L166V |
0.0003 |
PLD2 |
| chr17 |
4814659 |
rs745921406 |
PLD2 |
c.G1121A |
p.R374H |
1.65E-05 |
PLD2 |
| chr7 |
4815304 |
rs566056396 |
RADIL |
c.G2113A |
p.A705T |
0 |
RADIL |
| chr7 |
4815373 |
rs749059385 |
RADIL |
c.C2044T |
p.R682W |
0.0002 |
RADIL |
| chr17 |
4817024 |
rs759266914 |
PLD2 |
c.G1670A |
p.R557Q |
1.65E-05 |
PLD2 |
| chr11 |
4821636 |
rs35003053 |
OR51F2 |
c.A251G |
p.D84G |
0.1039 |
OR51F2 |
| chr11 |
4822218 |
rs532943557 |
OR51F2 |
c.A833G |
p.Y278C |
0.0002 |
OR51F2 |
| chr19 |
4839305 |
rs552438963 |
PLIN3 |
c.C1156T |
p.R386C |
0.0002 |
PLIN3 |
| chr11 |
4848428 |
rs113028061 |
OR51S1 |
c.C781A |
p.P261T |
0.0076 |
OR51S1 |
| chr11 |
4848799 |
. |
OR51S1 |
c.C410G |
p.P137R |
|
OR51S1 |
| chr11 |
4849039 |
rs12417164 |
OR51S1 |
c.T170A |
p.I57N |
0.1795 |
OR51S1 |
| chr16 |
4858005 |
rs759350110 |
UBN1 |
c.G265C |
p.D89H |
8.28E-06 |
UBN1 |
| chr16 |
4868902 |
. |
UBN1 |
c.G1180T |
p.D394Y |
|
UBN1 |
| chr16 |
4870313 |
rs369212734 |
UBN1 |
c.G1283A |
p.R428H |
0.0002 |
UBN1 |
| chr16 |
4883628 |
rs751113704 |
PPL |
c.G5027A |
p.R1676H |
2.47E-05 |
PPL |
| chr16 |
4885048 |
rs753167986 |
PPL |
c.C3607T |
p.R1203W |
1.65E-05 |
PPL |
| chr16 |
4895686 |
rs35340520 |
PPL |
c.C1003A |
p.L335M |
0.0642 |
PPL |
| chr17 |
4899251 |
. |
CHRNE |
c.C1166T |
p.P389L |
|
CHRNE |
| chr11 |
4907712 |
rs533562438 |
OR51A7 |
c.C343A |
p.L115I |
0.0002 |
OR51A7 |
| chr11 |
4915566 |
rs768511859 |
OR51G2 |
c.C98T |
p.S33F |
5.8E-05 |
OR51G2 |
| chr11 |
4923436 |
rs144243455 |
OR51G1 |
c.C904T |
p.R302C |
0.004 |
OR51G1 |
| chr11 |
4923468 |
rs552022062 |
OR51G1 |
c.C872A |
p.P291H |
0.0004 |
OR51G1 |
| chr11 |
4923969 |
rs34742470 |
OR51G1 |
c.G371A |
p.R124H |
0.0937 |
OR51G1 |
| chr11 |
4923999 |
rs10836954 |
OR51G1 |
c.C341T |
p.S114L |
0.0639 |
OR51G1 |
| chr11 |
4924003 |
rs35264256 |
OR51G1 |
c.G337A |
p.E113K |
0.104 |
OR51G1 |
| chr11 |
4946421 |
rs28673258 |
OR51A4 |
c.T680C |
p.L227P |
0.2149 |
OR51A4 |
| chr11 |
4946448 |
rs12271991 |
OR51A4 |
c.C653T |
p.S218F |
0.0874 |
OR51A4 |
| chr11 |
4946887 |
rs2412467 |
OR51A4 |
c.G214A |
p.D72N |
0.0256 |
OR51A4 |
| chr11 |
4946925 |
rs1817206 |
OR51A4 |
c.A176G |
p.E59G |
0.0094 |
OR51A4 |
| chr11 |
4955061 |
rs55889636 |
OR51A2 |
c.C653T |
p.S218F |
0.4043 |
OR51A2 |
| chr10 |
4972715 |
rs535430563 |
AKR1C1 |
c.G812A |
p.S271N |
0.0006 |
AKR1C1 |
| chr10 |
4972743 |
rs142200840 |
AKR1C1 |
c.C840A |
p.N280K |
0.0123 |
AKR1C1 |
| chr11 |
4991995 |
rs551177575 |
MMP26 |
c.G627C |
p.E209D |
0.0003 |
MMP26 |
| chr6 |
4995230 |
rs12332997 |
RPP40 |
c.G814A |
p.V272I |
0.0429 |
RPP40 |
| chr10 |
4995756 |
. |
AKR1C2 |
c.G602C |
p.W201S |
|
AKR1C2 |
| chr10 |
4998708 |
rs782597135 |
AKR1C2 |
c.A409G |
p.I137V |
0.0001 |
AKR1C2 |
| chr11 |
4999703 |
rs61729748 |
OR51L1 |
c.A721T |
p.N241Y |
0.0302 |
OR51L1 |
| chr11 |
4999817 |
rs759055439 |
OR51L1 |
c.G835A |
p.A279T |
1.65E-05 |
OR51L1 |
| chr10 |
5001555 |
rs142672563 |
AKR1C2 |
c.G211C |
p.D71H |
0.0025 |
AKR1C2 |
| chr17 |
5003999 |
rs146872023 |
KIF1C |
c.A866C |
p.Q289P |
0.0012 |
KIF1C |
| chr16 |
5027995 |
rs764722220 |
NAGPA |
c.G1111A |
p.G371R |
2.53E-05 |
NAGPA |
| chr12 |
5044694 |
rs147601692 |
KCNA5 |
c.G547T |
p.G183C |
8.31E-06 |
KCNA5 |
| chr12 |
5044763 |
. |
KCNA5 |
c.G616C |
p.G206R |
|
KCNA5 |
| chr11 |
5047067 |
rs58664826 |
OR52J3 |
c.G542A |
p.C181Y |
0.1303 |
OR52J3 |
| chr11 |
5047319 |
rs537500364 |
OR52J3 |
c.T794C |
p.F265S |
1.65E-05 |
OR52J3 |
| chr16 |
5055315 |
rs372562360 |
C16orf89 |
c.T799G |
p.Y267D |
0.0003 |
C16orf89 |
| chrY |
5057296 |
. |
PCDH11Y |
c.G473C |
p.R158P |
|
PCDH11Y |
| chr11 |
5058951 |
rs72873928 |
OR52E2 |
c.T677C |
p.V226A |
0.0248 |
OR52E2 |
| chr11 |
5059089 |
. |
OR52E2 |
c.A539G |
p.Y180C |
|
OR52E2 |
| chr11 |
5059387 |
. |
OR52E2 |
c.C241A |
p.P81T |
|
OR52E2 |
| chr7 |
5065089 |
. |
RBAK |
c.G1633A |
p.G545R |
|
RBAK |
| chr9 |
5090524 |
rs777544455 |
JAK2 |
c.G2393A |
p.R798Q |
1.66E-05 |
JAK2 |
| chr16 |
5091797 |
rs543128575 |
EEF2KMT |
c.G339C |
p.L113F |
0.0007 |
EEF2KMT |
| chr10 |
5096551 |
rs370884375 |
AKR1C3 |
c.A226G |
p.R76G |
0.0026 |
AKR1C3 |
| chr11 |
5151999 |
rs147169118 |
OR52A1 |
c.G371A |
p.R124H |
0.0112 |
OR52A1 |
| chr9 |
5164040 |
. |
INSL6 |
c.G515C |
p.R172T |
|
INSL6 |
| chr17 |
5182903 |
rs148424048 |
ZNF594 |
c.C1354T |
p.R452C |
0.004 |
ZNF594 |
| chr17 |
5182908 |
rs574718094 |
ZNF594 |
c.A1349G |
p.H450R |
0.0071 |
ZNF594 |
| chr11 |
5199778 |
rs143609610 |
OR51V1 |
c.T923G |
p.I308S |
0.002 |
OR51V1 |
| chr11 |
5199902 |
rs61736992 |
OR51V1 |
c.C799T |
p.L267F |
0.0262 |
OR51V1 |
| chr10 |
5206369 |
rs201298644 |
AKR1C4 |
c.G542T |
p.G181V |
0.0007 |
AKR1C4 |
| chr19 |
5210714 |
rs116345982 |
PTPRS |
c.G3997A |
p.V1333M |
3.3E-05 |
PTPRS |
| chr19 |
5210785 |
rs758652323 |
PTPRS |
c.C3926T |
p.A1309V |
3.33E-05 |
PTPRS |
| chr11 |
5301717 |
rs536411467 |
OR51B4 |
c.C230T |
p.P77L |
8.25E-06 |
OR51B4 |
| chr11 |
5323451 |
rs11036815 |
OR51B2 |
c.C847T |
p.P283S |
0.2721 |
OR51B2 |
| chr11 |
5323898 |
rs10837814 |
OR51B2 |
c.C400T |
p.L134F |
0.5445 |
OR51B2 |
| chr7 |
5332672 |
rs544435950 |
TNRC18 |
c.A6097G |
p.S2033G |
0.0055 |
TNRC18 |
| chr11 |
5343263 |
rs57900141 |
OR51B5 |
c.A262G |
p.R88G |
0.0611 |
OR51B5 |
| chr11 |
5352012 |
rs5006885 |
OR51B6 |
c.T505G |
p.S169A |
0.24 |
OR51B6 |
| chr11 |
5352021 |
rs5006884 |
OR51B6 |
c.C514T |
p.L172F |
0.2382 |
OR51B6 |
| chr11 |
5352332 |
rs5024042 |
OR51B6 |
c.C825A |
p.S275R |
0.2381 |
OR51B6 |
| chr7 |
5376884 |
. |
TNRC18 |
c.G2571T |
p.Q857H |
|
TNRC18 |
| chr7 |
5388730 |
. |
TNRC18 |
c.G1094A |
p.R365H |
|
TNRC18 |
| chr10 |
5394110 |
rs34080891 |
TUBAL3 |
c.C628T |
p.R210W |
0.0358 |
TUBAL3 |
| chr11 |
5422739 |
rs58283839 |
OR51Q1 |
c.A539C |
p.Y180S |
0.0712 |
OR51Q1 |
| chr17 |
5434961 |
rs56014026 |
C1QBP |
c.C389T |
p.T130M |
0.0144 |
C1QBP |
| chr11 |
5441196 |
. |
OR51I1 |
c.C319T |
p.H107Y |
|
OR51I1 |
| chr17 |
5444468 |
rs75426953 |
DHX33 |
c.C1342T |
p.R448C |
0.013 |
DHX33 |
| chr11 |
5454275 |
rs75620804 |
OR51I2 |
c.C787T |
p.R263C |
0.0179 |
OR51I2 |
| chr11 |
5454276 |
rs11037502 |
OR51I2 |
c.G788A |
p.R263H |
0.126 |
OR51I2 |
| chr19 |
5455976 |
rs369680601 |
ZNRF4 |
c.G485A |
p.R162H |
0.0012 |
ZNRF4 |
| chr19 |
5455978 |
rs8104246 |
ZNRF4 |
c.C487T |
p.R163C |
0.0671 |
ZNRF4 |
| chr19 |
5455979 |
rs17304380 |
ZNRF4 |
c.G488A |
p.R163H |
0.1944 |
ZNRF4 |
| chr11 |
5489368 |
rs7950082 |
OR52D1 |
c.A662T |
p.Y221F |
0.1013 |
OR52D1 |
| chr11 |
5489458 |
rs7101919 |
OR52D1 |
c.T752C |
p.I251T |
0.2611 |
OR52D1 |
| chr17 |
5539470 |
rs61754791 |
NLRP1 |
c.G2815A |
p.V939M |
0.0153 |
NLRP1 |
| chr9 |
5549514 |
rs544152379 |
PDCD1LG2 |
c.C541T |
p.R181C |
0.0002 |
PDCD1LG2 |
| chr17 |
5558809 |
rs149035689 |
NLRP1 |
c.C1887A |
p.F629L |
0.0019 |
NLRP1 |
| chr12 |
5575934 |
rs549254794 |
ANO2 |
c.G2524A |
p.G842S |
4.56E-05 |
ANO2 |
| chr19 |
5616427 |
rs781167966 |
SAFB2 |
c.G334A |
p.G112R |
8.24E-06 |
SAFB2 |
| chr4 |
5622728 |
rs572056540 |
EVC2 |
c.G2070T |
p.W690C |
0.0004 |
EVC2 |
| chr11 |
5642476 |
rs3740997 |
TRIM34;TRIM6-TRIM34 |
c.G844C |
p.D282H |
0.0456 |
TRIM34;TRIM6-TRIM34 |
| chr11 |
5642476 |
rs3740997 |
TRIM34;TRIM6-TRIM34 |
c.G1906C |
p.D636H |
0.0456 |
TRIM34;TRIM6-TRIM34 |
| chr11 |
5709113 |
rs12364019 |
TRIM22 |
c.G950A |
p.R317K |
0.0295 |
TRIM22 |
| chr4 |
5729347 |
rs16837598 |
EVC |
c.C341T |
p.A114V |
0.0236 |
EVC |
| chr10 |
5735430 |
rs758532350 |
FAM208B |
c.C1331A |
p.S444Y |
8.3E-06 |
FAM208B |
| chr11 |
5736832 |
rs7397032 |
OR56B1 |
c.T316C |
p.C106R |
0.8171 |
OR56B1 |
| chr7 |
5752964 |
rs536794545 |
RNF216 |
c.G83A |
p.R28Q |
0.0003 |
RNF216 |
| chr11 |
5755249 |
rs75108386 |
OR52N4 |
c.A509C |
p.Y170S |
0.0342 |
OR52N4 |
| chr19 |
5776239 |
rs553233604 |
CATSPERD |
c.C2020T |
p.R674W |
0.0003 |
CATSPERD |
| chr11 |
5777848 |
rs867329035 |
OR52N5 |
c.C787T |
p.P263S |
|
OR52N5 |
| chr19 |
5785733 |
rs556988645 |
DUS3L |
c.A895G |
p.I299V |
5.08E-05 |
DUS3L |
| chr11 |
5787969 |
. |
OR52N1 |
c.A848C |
p.Y283S |
|
OR52N1 |
| chr11 |
5821126 |
rs8181512 |
OR52N2 |
c.A791G |
p.H264R |
0.5121 |
OR52N2 |
| chr19 |
5831504 |
rs150572233 |
FUT6 |
c.C1064T |
p.A355V |
8.28E-05 |
FUT6 |
| chr19 |
5843773 |
rs3894326 |
FUT3 |
c.T1067A |
p.I356K |
0.0865 |
FUT3 |
| chr19 |
5844332 |
rs3745635 |
FUT3 |
c.G508A |
p.G170S |
0.0826 |
FUT3 |
| chr19 |
5844781 |
rs28362459 |
FUT3 |
c.T59G |
p.L20R |
0.1752 |
FUT3 |
| chr19 |
5866737 |
rs755190918 |
FUT5 |
c.T989C |
p.L330P |
0 |
FUT5 |
| chr1 |
5867758 |
rs560329867 |
NPHP4 |
c.C1918T |
p.P640S |
0.001 |
NPHP4 |
| chr1 |
5867767 |
rs201605415 |
NPHP4 |
c.C1909T |
p.R637C |
3.33E-05 |
NPHP4 |
| chr7 |
5880893 |
. |
OCM |
c.A4T |
p.S2C |
|
OCM |
| chr7 |
5882598 |
rs41280702 |
OCM |
c.G167T |
p.S56I |
0.002 |
OCM |
| chr10 |
5887999 |
rs2296136 |
ANKRD16 |
c.C383G |
p.A128G |
0.0529 |
ANKRD16 |
| chr10 |
5889089 |
. |
ANKRD16 |
c.A266G |
p.Y89C |
|
ANKRD16 |
| chr10 |
5889127 |
rs768955233 |
ANKRD16 |
c.C228G |
p.H76Q |
4.77E-05 |
ANKRD16 |
| chr19 |
5908963 |
. |
VMAC |
c.C331T |
p.R111W |
|
VMAC |
| chr1 |
5909165 |
rs375051705 |
NPHP4 |
c.C1490G |
p.P497R |
0.0111 |
NPHP4 |
| chr7 |
5910069 |
rs542423106 |
CCZ1 |
c.T733C |
p.Y245H |
0.0005 |
CCZ1 |
| chr19 |
5914639 |
rs199930097 |
CAPS |
c.G418A |
p.G140R |
0.0035 |
CAPS |
| chr9 |
5922004 |
rs537102553 |
KIAA2026 |
c.C3992G |
p.S1331C |
0.0002 |
KIAA2026 |
| chr12 |
5952393 |
rs7962217 |
VWF |
c.G8113A |
p.G2705R |
0.0593 |
VWF |
| chr20 |
5955229 |
rs58487183 |
MCM8 |
c.G464A |
p.C155Y |
0.0053 |
MCM8 |
| chr9 |
5968714 |
rs183413824 |
KIAA2026 |
c.G1517A |
p.R506Q |
0.0002 |
KIAA2026 |
| chr11 |
5986542 |
rs61750896 |
OR52L1 |
c.C389T |
p.S130L |
0.0965 |
OR52L1 |
| chr11 |
5986669 |
rs4501959 |
OR52L1 |
c.G262A |
p.D88N |
0.1968 |
OR52L1 |
| chr12 |
5994484 |
rs61750615 |
VWF |
c.C6187T |
p.P2063S |
0.0127 |
VWF |
| chr19 |
6004280 |
rs769861701 |
RFX2 |
c.T1346C |
p.I449T |
0.0001 |
RFX2 |
| chr12 |
6016197 |
rs267607353 |
VWF |
c.T5347G |
p.S1783A |
0.0001 |
VWF |
| chr12 |
6019621 |
rs61749370 |
VWF |
c.C3797A |
p.P1266Q |
0.0005 |
VWF |
| chr12 |
6025919 |
rs531867007 |
VWF |
c.C3095T |
p.A1032V |
5.77E-05 |
VWF |
| chr11 |
6026852 |
rs139101039 |
OR56A1 |
c.G853T |
p.V285F |
0.0004 |
OR56A1 |
| chr11 |
6027019 |
rs554287498 |
OR56A1 |
c.T686C |
p.L229P |
0.0008 |
OR56A1 |
| chr20 |
6052358 |
rs6117050 |
LRRN4 |
c.C442T |
p.L148F |
0.3168 |
LRRN4 |
| chr20 |
6107618 |
rs62200482 |
FERMT1 |
c.C763T |
p.R255C |
0.0709 |
FERMT1 |
| chr11 |
6107912 |
rs544772300 |
OR56B4 |
c.T134G |
p.L45R |
0.0005 |
OR56B4 |
| chr6 |
6197223 |
. |
F13A1 |
c.G1216A |
p.G406S |
|
F13A1 |
| chr11 |
6199984 |
rs11040799 |
OR52W1 |
c.T761A |
p.L254Q |
0.6795 |
OR52W1 |
| chr18 |
6213208 |
rs757230528 |
L3MBTL4 |
c.C922T |
p.R308W |
9.09E-05 |
L3MBTL4 |
| chr19 |
6216469 |
rs752596385 |
MLLT1 |
c.G1243A |
p.D415N |
1.41E-05 |
MLLT1 |
| chr11 |
6217407 |
rs141812318 |
FAM160A2 |
c.C2179T |
p.R727W |
0.0006 |
FAM160A2 |
| chr12 |
6236267 |
rs759234865 |
CD9 |
c.G406A |
p.V136M |
8.25E-06 |
CD9 |
| chr1 |
6244394 |
rs114198341 |
HES3 |
c.A29G |
p.N10S |
0.0105 |
HES3 |
| chr1 |
6245254 |
. |
HES3 |
c.C308T |
p.T103I |
|
HES3 |
| chr1 |
6253827 |
rs143332760 |
GPR153 |
c.G677A |
p.R226Q |
0.0017 |
GPR153 |
| chr11 |
6319450 |
. |
CAVIN3 |
c.G499T |
p.D167Y |
|
CAVIN3 |
| chr11 |
6320093 |
. |
CAVIN3 |
c.G384T |
p.K128N |
|
CAVIN3 |
| chr11 |
6320253 |
rs539550314 |
CAVIN3 |
c.G224A |
p.S75N |
0.0034 |
CAVIN3 |
| chr11 |
6320367 |
. |
CAVIN3 |
c.A110G |
p.E37G |
|
CAVIN3 |
| chr1 |
6339568 |
. |
ACOT7 |
c.G160T |
p.A54S |
|
ACOT7 |
| chr12 |
6349184 |
rs5742912 |
SCNN1A |
c.T1654C |
p.W552R |
0.0182 |
SCNN1A |
| chr12 |
6355418 |
rs146177203 |
SCNN1A |
c.C1174T |
p.R392C |
0.0002 |
SCNN1A |
| chr12 |
6384374 |
. |
LTBR |
c.G16A |
p.A6T |
|
LTBR |
| chr11 |
6392060 |
rs202081954 |
SMPD1 |
c.C34A |
p.P12T |
1.65E-05 |
SMPD1 |
| chr7 |
6412861 |
rs766451252 |
DAGLB |
c.G1132T |
p.D378Y |
4.59E-05 |
DAGLB |
| chr19 |
6430095 |
rs34488963 |
SLC25A41 |
c.G16A |
p.G6S |
0.0737 |
SLC25A41 |
| chr19 |
6432083 |
rs200270386 |
SLC25A41 |
c.C329T |
p.T110M |
0.0003 |
SLC25A41 |
| chr12 |
6445132 |
rs146726863 |
CD27 |
c.G37A |
p.G13R |
0.0002 |
CD27 |
| chr1 |
6449002 |
. |
ESPN |
c.C1826T |
p.A609V |
|
ESPN |
| chr1 |
6464441 |
rs11800462 |
TNFRSF25 |
c.A341G |
p.D114G |
0.0902 |
TNFRSF25 |
| chr1 |
6464441 |
rs11800462 |
TNFRSF25 |
c.A476G |
p.D159G |
0.0902 |
TNFRSF25 |
| chr1 |
6468378 |
rs202191898 |
PLEKHG5 |
c.G2665A |
p.G889S |
0.0015 |
PLEKHG5 |
| chr1 |
6474583 |
rs141032388 |
PLEKHG5 |
c.G307A |
p.V103M |
0.002 |
PLEKHG5 |
| chr7 |
6502076 |
. |
GRID2IP |
c.C3193G |
p.H1065D |
|
GRID2IP |
| chr11 |
6502916 |
rs539207151 |
DNHD1 |
c.C910T |
p.R304W |
0.0004 |
DNHD1 |
| chr11 |
6502923 |
. |
DNHD1 |
c.T917G |
p.F306C |
|
DNHD1 |
| chr7 |
6508271 |
rs112305062 |
GRID2IP |
c.C2258T |
p.P753L |
0.1127 |
GRID2IP |
| chr7 |
6510953 |
rs61732374 |
GRID2IP |
c.C1510T |
p.R504C |
0.009 |
GRID2IP |
| chr12 |
6528244 |
rs764438216 |
NCAPD2 |
c.G3215A |
p.R1072Q |
1.66E-05 |
NCAPD2 |
| chr9 |
6533110 |
. |
GLDC |
c.T2970A |
p.D990E |
|
GLDC |
| chr11 |
6539255 |
rs529587242 |
DNHD1 |
c.T3362C |
p.L1121P |
0.0014 |
DNHD1 |
| chr11 |
6539258 |
rs549431412 |
DNHD1 |
c.C3365T |
p.T1122M |
0.0003 |
DNHD1 |
| chr12 |
6540533 |
rs370846800 |
IFFO1 |
c.G1636A |
p.E546K |
0.0008 |
IFFO1 |
| chr12 |
6540544 |
rs138380449 |
IFFO1 |
c.C1625T |
p.P542L |
0.012 |
IFFO1 |
| chr11 |
6546322 |
rs200580361 |
DNHD1 |
c.G5383A |
p.V1795M |
0.0001 |
DNHD1 |
| chr1 |
6554475 |
rs4908923 |
NOL9 |
c.C28T |
p.R10W |
0.8446 |
NOL9 |
| chr11 |
6557313 |
rs537026393 |
DNHD1 |
c.T8018C |
p.L2673P |
0.0009 |
DNHD1 |
| chr11 |
6557411 |
rs192678564 |
DNHD1 |
c.C8116A |
p.P2706T |
0.0052 |
DNHD1 |
| chr1 |
6579013 |
rs149418903 |
TAS1R1 |
c.G1193A |
p.R398H |
0.0018 |
TAS1R1 |
| chr9 |
6589232 |
. |
GLDC |
c.A1543G |
p.R515G |
|
GLDC |
| chr4 |
6609162 |
rs61733402 |
MAN2B2 |
c.G1717A |
p.G573R |
0.0668 |
MAN2B2 |
| chr17 |
6620978 |
rs9889363 |
KIAA0753 |
c.A228T |
p.E76D |
0.3695 |
KIAA0753 |
| chr7 |
6622580 |
. |
ZNF853 |
c.C1589T |
p.T530M |
|
ZNF853 |
| chr11 |
6629812 |
rs762690260 |
DCHS1 |
c.C4895T |
p.T1632M |
8.37E-06 |
DCHS1 |
| chr12 |
6656757 |
. |
ING4 |
c.C79T |
p.L27F |
|
ING4 |
| chr5 |
6752970 |
. |
PAPD7 |
c.A827G |
p.H276R |
|
PAPD7 |
| chr19 |
6754157 |
rs146711285 |
SH2D3A |
c.C1279G |
p.R427G |
0.0011 |
SH2D3A |
| chr11 |
6785602 |
rs531882406 |
OR2AG1 |
c.T565C |
p.C189R |
3.3E-05 |
OR2AG1 |
| chr12 |
6845700 |
rs5442 |
GNB3 |
c.G811A |
p.G271S |
0.05 |
GNB3 |
| chr11 |
6845862 |
rs138436507 |
OR10A5 |
c.G180C |
p.M60I |
0.0007 |
OR10A5 |
| chr12 |
6869274 |
. |
TPI1 |
c.T95G |
p.V32G |
|
TPI1 |
| chr12 |
6870050 |
rs782244635 |
TPI1 |
c.C299G |
p.A100G |
4.94E-05 |
TPI1 |
| chr11 |
6870527 |
rs7926083 |
OR10A2 |
c.A773C |
p.K258T |
0.3533 |
OR10A2 |
| chr11 |
6877264 |
rs2595453 |
OR10A4 |
c.T617C |
p.L206P |
0.04 |
OR10A4 |
| chr2 |
6878014 |
rs760116163 |
RSAD2 |
c.C214T |
p.P72S |
4.95E-05 |
RSAD2 |
| chr2 |
6886947 |
rs373866214 |
RSAD2 |
c.A521G |
p.D174G |
0.0002 |
RSAD2 |
| chr18 |
6890539 |
rs74414891 |
ARHGAP28 |
c.G1367T |
p.R456L |
0.0063 |
ARHGAP28 |
| chr11 |
6892328 |
. |
OR2D2 |
c.C173G |
p.P58R |
|
OR2D2 |
| chr11 |
6892467 |
. |
OR2D2 |
c.T34A |
p.F12I |
|
OR2D2 |
| chr19 |
6897298 |
rs143012410 |
ADGRE1 |
c.T388C |
p.C130R |
0.0012 |
ADGRE1 |
| chr12 |
6905911 |
rs2071072 |
LRRC23 |
c.A193C |
p.N65H |
0.0175 |
LRRC23 |
| chr11 |
6921245 |
rs10839658 |
OR2D3 |
c.C244A |
p.L82I |
0.5244 |
OR2D3 |
| chr11 |
6921495 |
rs10839659 |
OR2D3 |
c.G494C |
p.W165S |
0.3345 |
OR2D3 |
| chr11 |
6921906 |
rs556958972 |
OR2D3 |
c.A905T |
p.N302I |
0.0008 |
OR2D3 |
| chr8 |
6936844 |
rs140882302 |
DEFA4 |
c.C56A |
p.A19E |
0.022 |
DEFA4 |
| chr12 |
6938745 |
rs782509350 |
ATN1 |
c.C2782T |
p.P928S |
0.0001 |
ATN1 |
| chr11 |
7000176 |
rs574761979 |
ZNF214 |
c.T1507C |
p.C503R |
1.65E-05 |
ZNF214 |
| chr17 |
7005904 |
rs762709740 |
ALOX12 |
c.C1295T |
p.A432V |
1.65E-05 |
ALOX12 |
| chr18 |
7016601 |
rs745925162 |
LAMA1 |
c.C2879T |
p.S960L |
9.97E-05 |
LAMA1 |
| chr19 |
7032419 |
. |
MBD3L5 |
c.G152C |
p.R51T |
|
MBD3L5 |
| chr18 |
7034563 |
rs556604476 |
LAMA1 |
c.G1967A |
p.R656H |
5.77E-05 |
LAMA1 |
| chr17 |
7038272 |
. |
SLC16A13 |
c.T464C |
p.F155S |
|
SLC16A13 |
| chr17 |
7041683 |
rs367810297 |
SLC16A11 |
c.G1412C |
p.C471S |
9.19E-06 |
SLC16A11 |
| chr11 |
7042561 |
rs149541731 |
NLRP14 |
c.G535A |
p.V179M |
0.0051 |
NLRP14 |
| chr18 |
7044754 |
rs201386303 |
LAMA1 |
c.C944T |
p.P315L |
0.0001 |
LAMA1 |
| chr12 |
7070367 |
. |
C1S |
c.T1282C |
p.C428R |
|
C1S |
| chr17 |
7075202 |
. |
CLEC10A |
c.C722A |
p.P241Q |
|
CLEC10A |
| chr17 |
7078012 |
rs147504959 |
CLEC10A |
c.G169A |
p.V57M |
0.0017 |
CLEC10A |
| chr12 |
7136241 |
rs768043934 |
CLSTN3 |
c.G778A |
p.G260R |
1.65E-05 |
CLSTN3 |
| chr10 |
7188636 |
rs200601568 |
SFMBT2 |
c.C1796T |
p.T599M |
0.0003 |
SFMBT2 |
| chr12 |
7203486 |
rs767306549 |
PEX5 |
c.C766T |
p.R256W |
8.37E-05 |
PEX5 |
| chr17 |
7227237 |
. |
DVL2 |
c.G1396A |
p.V466M |
|
DVL2 |
| chr17 |
7230073 |
. |
DVL2 |
c.C493T |
p.R165C |
|
DVL2 |
| chr10 |
7248600 |
. |
SFMBT2 |
c.A920G |
p.E307G |
|
SFMBT2 |
| chr12 |
7324590 |
rs199564292 |
ACSM4 |
c.C1528T |
p.R510C |
0.0001 |
ACSM4 |
| chrX |
7325414 |
rs780720545 |
STS |
c.G1157C |
p.G386A |
0.0006 |
STS |
| chr17 |
7327526 |
rs11655578 |
NEURL4 |
c.C641A |
p.P214H |
0.1901 |
NEURL4 |
| chr12 |
7374457 |
rs531121255 |
CD163L1 |
c.G3424A |
p.G1142R |
0.0003 |
CD163L1 |
| chr12 |
7406713 |
rs761427685 |
CD163L1 |
c.G936C |
p.Q312H |
0.0001 |
CD163L1 |
| chr17 |
7426313 |
rs13290 |
C17orf74 |
c.T322G |
p.S108A |
0.5045 |
C17orf74 |
| chr17 |
7427388 |
rs369230826 |
C17orf74 |
c.T1397C |
p.L466P |
3.37E-05 |
C17orf74 |
| chr4 |
7433994 |
rs6850206 |
PSAPL1 |
c.G886A |
p.V296M |
0.1673 |
PSAPL1 |
| chr17 |
7442672 |
rs4151131 |
FGF11 |
c.C310T |
p.R104C |
0.0003 |
FGF11 |
| chr19 |
7451185 |
rs368588291 |
ARHGEF18 |
c.G1210A |
p.V404M |
0.0002 |
ARHGEF18 |
| chr19 |
7477282 |
rs11668511 |
PEX11G |
c.C436T |
p.L146F |
0.0488 |
PEX11G |
| chr19 |
7505544 |
rs532483506 |
TEX45 |
c.C923T |
p.T308I |
8.29E-06 |
TEX45 |
| chr7 |
7531566 |
rs200426969 |
COL28A1 |
c.G463A |
p.V155M |
0.0017 |
COL28A1 |
| chr19 |
7559099 |
rs762047744 |
PNPLA6 |
c.C3647T |
p.P1216L |
5.77E-05 |
PNPLA6 |
| chr10 |
7580046 |
rs41298373 |
ITIH5 |
c.C485T |
p.A162V |
0.1104 |
ITIH5 |
| chr10 |
7580046 |
rs41298373 |
ITIH5 |
c.C1127T |
p.A376V |
0.1104 |
ITIH5 |
| chr6 |
7582816 |
rs550818559 |
DSP |
c.C4225T |
p.R1409C |
0.0003 |
DSP |
| chr6 |
7585453 |
rs201397978 |
DSP |
c.T6862C |
p.Y2288H |
0.0028 |
DSP |
| chr19 |
7617888 |
rs775086306 |
CAMSAP3 |
c.C3662T |
p.T1221M |
8.4E-06 |
CAMSAP3 |
| chr11 |
7621019 |
rs533969622 |
PPFIBP2 |
c.G274C |
p.A92P |
6.61E-05 |
PPFIBP2 |
| chr17 |
7626584 |
rs13894 |
SAT2 |
c.C274T |
p.R92C |
0.0725 |
SAT2 |
| chr11 |
7648505 |
rs149157151 |
PPFIBP2 |
c.T1336A |
p.L446I |
0.005 |
PPFIBP2 |
| chr1 |
7661787 |
. |
CAMTA1 |
c.G636T |
p.Q212H |
|
CAMTA1 |
| chr11 |
7667798 |
rs61733057 |
CYB5R2 |
c.T488G |
p.L163W |
0.0446 |
CYB5R2 |
| chr12 |
7690059 |
rs387906945 |
GDF3 |
c.T914C |
p.L305P |
0.0007 |
GDF3 |
| chr12 |
7690153 |
rs387906946 |
GDF3 |
c.C820T |
p.R274W |
0.0002 |
GDF3 |
| chr12 |
7690167 |
rs755438714 |
GDF3 |
c.T806A |
p.L269Q |
8.24E-06 |
GDF3 |
| chr17 |
7768033 |
rs141149043 |
DNAH2 |
c.G3809A |
p.R1270H |
0.0051 |
DNAH2 |
| chr17 |
7778104 |
. |
DNAH2 |
c.A5275G |
p.T1759A |
|
DNAH2 |
| chr17 |
7778111 |
. |
DNAH2 |
c.C5282T |
p.T1761M |
|
DNAH2 |
| chr17 |
7780168 |
rs143690370 |
DNAH2 |
c.C5734G |
p.R1912G |
8.24E-06 |
DNAH2 |
| chr17 |
7780663 |
. |
DNAH2 |
c.C5884G |
p.L1962V |
|
DNAH2 |
| chr17 |
7794296 |
. |
DNAH2 |
c.C7612T |
p.R2538W |
|
DNAH2 |
| chr10 |
7797058 |
. |
ATP5C1 |
c.C103A |
p.L35I |
|
ATP5C1 |
| chr4 |
7800500 |
rs28406288 |
AFAP1 |
c.C1208G |
p.S403C |
0.1444 |
AFAP1 |
| chr1 |
7803123 |
rs145870917 |
PER3 |
c.C949T |
p.R317C |
3.3E-05 |
PER3 |
| chr17 |
7818938 |
rs140819153 |
DNAH2 |
c.G10690A |
p.G3564S |
0.0015 |
DNAH2 |
| chr12 |
7832722 |
rs10846018 |
SLC2A14 |
c.G14T |
p.R5L |
0.0242 |
SLC2A14 |
| chr17 |
7832924 |
rs116930996 |
DNAH2 |
c.C12974G |
p.P4325R |
0.0277 |
DNAH2 |
| chr1 |
7835906 |
rs35802556 |
PER3 |
c.C2399T |
p.T800I |
0.0012 |
PER3 |
| chr19 |
7863030 |
. |
EVI5L |
c.C2006A |
p.A669D |
|
EVI5L |
| chr5 |
7870860 |
rs1801394 |
MTRR |
c.A147G |
p.I49M |
0.473 |
MTRR |
| chr5 |
7889191 |
rs2287780 |
MTRR |
c.C1324T |
p.R442C |
0.0566 |
MTRR |
| chr5 |
7891393 |
rs16879334 |
MTRR |
c.C1430G |
p.P477R |
0.055 |
MTRR |
| chr17 |
7899056 |
rs149562838 |
CHD3 |
c.G2197A |
p.G733R |
0.0004 |
CHD3 |
| chr19 |
7899814 |
rs749110589 |
LRRC8E |
c.A905G |
p.D302G |
1.7E-05 |
LRRC8E |
| chr6 |
7904583 |
rs558569361 |
TXNDC5 |
c.G80T |
p.G27V |
9.89E-05 |
TXNDC5 |
| chr19 |
7921753 |
rs475002 |
SNAPC2 |
c.C352G |
p.L118V |
0.4983 |
SNAPC2 |
| chrX |
7926076 |
rs764962946 |
PNPLA4 |
c.G44A |
p.G15D |
0.0002 |
PNPLA4 |
| chr17 |
7927348 |
rs780329348 |
KCNAB3 |
c.G400A |
p.G134R |
2.47E-05 |
KCNAB3 |
| chr12 |
7931432 |
rs757016296 |
SLC2A3 |
c.T323C |
p.M108T |
0.0003 |
SLC2A3 |
| chr17 |
7949406 |
rs151174639 |
CNTROB |
c.C2611T |
p.R871C |
0.0039 |
CNTROB |
| chr17 |
7949410 |
rs538266374 |
CNTROB |
c.G2615A |
p.R872H |
6.6E-05 |
CNTROB |
| chr17 |
7949490 |
. |
CNTROB |
c.C2695T |
p.R899W |
8.39E-06 |
CNTROB |
| chr1 |
7962868 |
rs142405016 |
PARK7 |
c.G83A |
p.R28Q |
4.94E-05 |
PARK7 |
| chr7 |
7969481 |
. |
GLCCI1 |
c.G131A |
p.G44D |
|
GLCCI1 |
| chr17 |
8046919 |
rs148578247 |
ALOX15B |
c.G1213A |
p.G405S |
0.0002 |
ALOX15B |
| chr6 |
8062589 |
. |
BLOC1S5 |
c.T140G |
p.L47W |
|
BLOC1S5 |
| chr4 |
8077710 |
rs772095925 |
ABLIM2 |
c.C593T |
p.P198L |
2.07E-05 |
ABLIM2 |
| chr4 |
8080744 |
. |
ABLIM2 |
c.G513C |
p.K171N |
|
ABLIM2 |
| chr19 |
8086248 |
rs144887983 |
FBN3 |
c.G6832C |
p.D2278H |
0.0074 |
FBN3 |
| chr19 |
8094494 |
rs149496112 |
FBN3 |
c.C5857T |
p.R1953C |
0.0003 |
FBN3 |
| chr11 |
8100947 |
rs747234368 |
TUB |
c.G1337A |
p.R446H |
8.24E-06 |
TUB |
| chr19 |
8103661 |
rs33967815 |
FBN3 |
c.G4840A |
p.G1614S |
0.2471 |
FBN3 |
| chr12 |
8222496 |
rs377727701 |
FAM90A1 |
c.C721T |
p.P241S |
0.0024 |
FAM90A1 |
| chr17 |
8232435 |
. |
CTC1 |
c.G1986C |
p.E662D |
|
CTC1 |
| chr4 |
8233493 |
rs111285143 |
SH3TC1 |
c.C3034A |
p.L1012M |
0.0063 |
SH3TC1 |
| chr19 |
8257024 |
rs777818786 |
CERS4 |
c.C688T |
p.R230C |
8.3E-05 |
CERS4 |
| chr17 |
8258112 |
rs748225485 |
PFAS |
c.C1249T |
p.R417W |
1.65E-05 |
PFAS |
| chr17 |
8263187 |
rs748884021 |
PFAS |
c.C1489T |
p.R497C |
3.3E-05 |
PFAS |
| chr17 |
8265075 |
rs866028921 |
PFAS |
c.G2230A |
p.V744M |
|
PFAS |
| chr17 |
8268595 |
rs748046422 |
PFAS |
c.C3445T |
p.R1149W |
8.35E-06 |
PFAS |
| chr17 |
8268775 |
rs374115035 |
PFAS |
c.G3625A |
p.V1209M |
4.28E-05 |
PFAS |
| chr17 |
8313048 |
rs769948298 |
ARHGEF15 |
c.C728T |
p.P243L |
8.35E-06 |
ARHGEF15 |
| chr19 |
8316574 |
rs532995788 |
NDUFA7 |
c.A173G |
p.D58G |
0.0004 |
NDUFA7 |
| chr1 |
8330512 |
rs753490288 |
SLC45A1 |
c.C1121T |
p.P374L |
4.22E-05 |
SLC45A1 |
| chr9 |
8331583 |
. |
PTPRD |
c.A4312G |
p.S1438G |
|
PTPRD |
| chr1 |
8335563 |
. |
SLC45A1 |
c.C1672T |
p.R558C |
|
SLC45A1 |
| chr19 |
8335708 |
rs536701986 |
KANK3 |
c.A119T |
p.Y40F |
0.0046 |
KANK3 |
| chr1 |
8360128 |
rs538629961 |
RERE |
c.G1717A |
p.A573T |
0.0004 |
RERE |
| chr17 |
8370144 |
rs529177884 |
KRBA2 |
c.C223T |
p.R75C |
4.12E-05 |
KRBA2 |
| chr18 |
8380398 |
rs769342771 |
PTPRM |
c.G3889A |
p.V1297I |
4.94E-05 |
PTPRM |
| chr9 |
8486247 |
rs139171396 |
PTPRD |
c.G2570A |
p.R857H |
0.0006 |
PTPRD |
| chr19 |
8490913 |
rs545511903 |
PRAM1 |
c.G1717A |
p.E573K |
3.31E-05 |
PRAM1 |
| chr19 |
8499639 |
rs4804305 |
PRAM1 |
c.A169C |
p.K57Q |
0.2812 |
PRAM1 |
| chr19 |
8499648 |
rs547450112 |
PRAM1 |
c.G160A |
p.E54K |
0.0007 |
PRAM1 |
| chr19 |
8513151 |
rs8100431 |
ZNF414 |
c.A194G |
p.Q65R |
0.3478 |
ZNF414 |
| chr19 |
8527474 |
rs201198914 |
MYO1F |
c.C2326G |
p.R776G |
0.0001 |
MYO1F |
| chr19 |
8550342 |
rs774935688 |
MYO1F |
c.G907A |
p.A303T |
8.23E-05 |
MYO1F |
| chr4 |
8582565 |
rs144674484 |
GPR78 |
c.C703T |
p.R235C |
0.0001 |
GPR78 |
| chr4 |
8614467 |
. |
CPZ |
c.A1061G |
p.N354S |
|
CPZ |
| chr11 |
8618903 |
rs369568930 |
TRIM66 |
c.G3438C |
p.E1146D |
0.012 |
TRIM66 |
| chr4 |
8619568 |
. |
CPZ |
c.A1499C |
p.Y500S |
|
CPZ |
| chr3 |
8619881 |
rs181750881 |
SSUH2 |
c.G896C |
p.C299S |
0.0014 |
SSUH2 |
| chr3 |
8623613 |
. |
SSUH2 |
c.C698A |
p.A233D |
|
SSUH2 |
| chr3 |
8633761 |
rs112366230 |
SSUH2 |
c.G25A |
p.A9T |
0.007 |
SSUH2 |
| chr11 |
8640969 |
rs11042023 |
TRIM66 |
c.A971G |
p.H324R |
0.5939 |
TRIM66 |
| chr11 |
8641102 |
rs61743935 |
TRIM66 |
c.T838C |
p.Y280H |
0.0619 |
TRIM66 |
| chr11 |
8649750 |
rs548951886 |
TRIM66 |
c.G147C |
p.K49N |
0.0001 |
TRIM66 |
| chr8 |
8703267 |
rs543033189 |
CLDN23 |
c.C869A |
p.S290Y |
0.0008 |
CLDN23 |
| chr19 |
8731873 |
rs548312485 |
OR2Z1 |
c.C845T |
p.T282I |
0.0007 |
OR2Z1 |
| chr17 |
8743697 |
rs9893451 |
CCDC42 |
c.C223T |
p.R75C |
0.0381 |
CCDC42 |
| chr17 |
8797401 |
rs78093130 |
MFSD6L |
c.G1720A |
p.D574N |
0.0055 |
MFSD6L |
| chr17 |
8797460 |
rs74899363 |
MFSD6L |
c.C1661T |
p.S554L |
0.0166 |
MFSD6L |
| chr17 |
8798921 |
. |
MFSD6L |
c.C200T |
p.A67V |
|
MFSD6L |
| chr12 |
8857224 |
rs1558526 |
A2ML1 |
c.G1436A |
p.C479Y |
0.1881 |
A2ML1 |
| chr19 |
8862912 |
rs374745546 |
MUC16 |
c.T42728C |
p.L14243P |
0.0024 |
MUC16 |
| chr12 |
8863953 |
. |
A2ML1 |
c.T2189A |
p.I730K |
|
A2ML1 |
| chr4 |
8868274 |
. |
HMX1 |
c.G466T |
p.G156W |
|
HMX1 |
| chr2 |
8873294 |
rs34573615 |
MBOAT2 |
c.G298A |
p.V100I |
0.0051 |
MBOAT2 |
| chr2 |
8873294 |
rs34573615 |
MBOAT2 |
c.G430A |
p.V144I |
0.0051 |
MBOAT2 |
| chr19 |
8882768 |
rs577248883 |
MUC16 |
c.T41645G |
p.L13882R |
3.32E-05 |
MUC16 |
| chr19 |
8888844 |
rs866888569 |
MUC16 |
c.C40655T |
p.T13552I |
|
MUC16 |
| chr19 |
8888845 |
rs868660041 |
MUC16 |
c.A40654C |
p.T13552P |
|
MUC16 |
| chr19 |
8888874 |
rs78879019 |
MUC16 |
c.G40625A |
p.G13542E |
0.0002 |
MUC16 |
| chr19 |
8892964 |
rs76660617 |
MUC16 |
c.C40000A |
p.L13334M |
0.0242 |
MUC16 |
| chr19 |
8896061 |
. |
MUC16 |
c.C39511T |
p.L13171F |
|
MUC16 |
| chr19 |
8900736 |
rs114676657 |
MUC16 |
c.G38821A |
p.E12941K |
0.0225 |
MUC16 |
| chr19 |
8910464 |
rs755275783 |
MUC16 |
c.A37183G |
p.T12395A |
1.66E-05 |
MUC16 |
| chr17 |
8911440 |
rs370330027 |
PIK3R5 |
c.C55T |
p.R19C |
2.54E-05 |
PIK3R5 |
| chr19 |
8915619 |
rs532237530 |
MUC16 |
c.C36691A |
p.P12231T |
0.0025 |
MUC16 |
| chr11 |
8932248 |
rs147009902 |
C11orf16 |
c.C61A |
p.L21M |
0.0065 |
C11orf16 |
| chr19 |
8938520 |
. |
MUC16 |
c.C32435A |
p.T10812K |
|
MUC16 |
| chr19 |
8946306 |
rs11670318 |
MUC16 |
c.C30464T |
p.T10155I |
0.2867 |
MUC16 |
| chr19 |
8947821 |
rs545014054 |
MUC16 |
c.C28949T |
p.T9650I |
0.0002 |
MUC16 |
| chr1 |
8949392 |
rs2274329 |
CA6 |
c.G209C |
p.G70A |
0.0924 |
CA6 |
| chr19 |
8951745 |
. |
MUC16 |
c.C25025A |
p.T8342K |
|
MUC16 |
| chr19 |
8953686 |
rs577486426 |
MUC16 |
c.C23084A |
p.A7695D |
0.0005 |
MUC16 |
| chr19 |
8957259 |
rs200919021 |
MUC16 |
c.C19511A |
p.S6504Y |
0.0039 |
MUC16 |
| chr19 |
8959116 |
rs1862458 |
MUC16 |
c.C17654T |
p.S5885F |
0.1978 |
MUC16 |
| chr19 |
8972426 |
rs546609813 |
MUC16 |
c.G8713A |
p.A2905T |
0.0009 |
MUC16 |
| chr19 |
8972467 |
rs7245949 |
MUC16 |
c.C8672T |
p.T2891I |
0.2933 |
MUC16 |
| chr19 |
8975642 |
rs4520945 |
MUC16 |
c.C5497T |
p.L1833F |
0.1956 |
MUC16 |
| chr19 |
8976919 |
rs755126570 |
MUC16 |
c.G4220T |
p.G1407V |
8.28E-06 |
MUC16 |
| chr1 |
9022946 |
rs563784708 |
SLC2A7 |
c.G283A |
p.V95M |
0.0003 |
SLC2A7 |
| chr11 |
9029928 |
rs3751057 |
SCUBE2 |
c.C2372G |
p.T791S |
0.084 |
SCUBE2 |
| chr11 |
9047514 |
rs144080898 |
SCUBE2 |
c.G1757A |
p.R586H |
0.0002 |
SCUBE2 |
| chr1 |
9058190 |
. |
SLC2A5 |
c.T94C |
p.Y32H |
|
SLC2A5 |
| chr11 |
9060521 |
rs72547298 |
SCUBE2 |
c.C854T |
p.T285M |
0.0076 |
SCUBE2 |
| chr5 |
9066501 |
rs199817743 |
SEMA5A |
c.C2219G |
p.P740R |
8.24E-06 |
SEMA5A |
| chr19 |
9093552 |
rs543820916 |
OR1M1 |
c.T308G |
p.F103C |
0.002 |
OR1M1 |
| chr19 |
9093608 |
rs185062607 |
OR1M1 |
c.C364T |
p.R122W |
0.0007 |
OR1M1 |
| chr12 |
9157336 |
rs746654060 |
PZP |
c.C3389T |
p.A1130V |
3.32E-05 |
PZP |
| chr12 |
9160355 |
rs57006764 |
PZP |
c.C3008T |
p.T1003M |
0.2101 |
PZP |
| chr19 |
9160411 |
rs780575735 |
ZNF317 |
c.G670A |
p.G224R |
2.47E-05 |
ZNF317 |
| chr11 |
9178961 |
. |
DENND5A |
c.G1280T |
p.R427L |
|
DENND5A |
| chr11 |
9203867 |
rs773366039 |
DENND5A |
c.C454G |
p.L152V |
8.24E-06 |
DENND5A |
| chr18 |
9254675 |
. |
ANKRD12 |
c.G1339T |
p.G447C |
|
ANKRD12 |
| chr19 |
9339212 |
rs77267061 |
ZNF559 |
c.A53G |
p.D18G |
0.0624 |
ZNF559 |
| chr19 |
9339212 |
rs77267061 |
ZNF559 |
c.A137G |
p.D46G |
0.0624 |
ZNF559 |
| chr3 |
9384270 |
rs763382657 |
THUMPD3 |
c.C1294T |
p.R432C |
9.07E-05 |
THUMPD3 |
| chr19 |
9466893 |
rs557801059 |
ZNF560 |
c.A1736T |
p.E579V |
0.0002 |
ZNF560 |
| chr2 |
9517944 |
. |
ADAM17 |
c.G1148A |
p.G383D |
|
ADAM17 |
| chr17 |
9586825 |
. |
CFAP52 |
c.A194G |
p.D65G |
|
CFAP52 |
| chr1 |
9597045 |
rs143014771 |
TMEM201 |
c.C421T |
p.R141C |
4.29E-05 |
TMEM201 |
| chr1 |
9598596 |
rs143297414 |
TMEM201 |
c.C577T |
p.R193C |
0.0004 |
TMEM201 |
| chr17 |
9676786 |
rs761456862 |
USP43 |
c.C874T |
p.R292W |
3.34E-05 |
USP43 |
| chr12 |
9692841 |
rs773472399 |
CLEC2D |
c.G260T |
p.R87I |
7.41E-05 |
CLEC2D |
| chr12 |
9694792 |
rs756571538 |
CLEC2D |
c.A383G |
p.Y128C |
0.0007 |
CLEC2D |
| chr19 |
9758439 |
rs544734614 |
ZNF846 |
c.T638G |
p.L213R |
5.8E-05 |
ZNF846 |
| chr4 |
9783147 |
. |
DRD5 |
c.T1118C |
p.L373P |
|
DRD5 |
| chr12 |
9833319 |
rs2232548 |
KLRF1 |
c.G201T |
p.L67F |
0.0737 |
KLRF1 |
| chr3 |
9838206 |
rs369448971 |
RPUSD3 |
c.T821A |
p.V274D |
0.0002 |
RPUSD3 |
| chrX |
9896003 |
rs369472774 |
SHROOM2 |
c.C2095T |
p.R699C |
0.0005 |
SHROOM2 |
| chr4 |
9920506 |
rs3733591 |
SLC2A9 |
c.G794A |
p.R265H |
0.2459 |
SLC2A9 |
| chr4 |
9920546 |
rs73225891 |
SLC2A9 |
c.G754C |
p.D252H |
0.0212 |
SLC2A9 |
| chr3 |
9920599 |
rs201607994 |
IL17RC |
c.C787T |
p.P263S |
0.0001 |
IL17RC |
| chr12 |
9922160 |
rs548351677 |
CLEC2A |
c.A212G |
p.Y71C |
0.0007 |
CLEC2A |
| chr3 |
9934853 |
rs764479214 |
CRELD1 |
c.C193T |
p.R65W |
9.74E-06 |
CRELD1 |
| chr3 |
9946763 |
. |
PRRT3 |
c.C2410G |
p.L804V |
|
PRRT3 |
| chr19 |
9968710 |
rs145421008 |
COL5A3 |
c.G4171A |
p.G1391R |
0.0001 |
COL5A3 |
| chr19 |
9974378 |
rs3815745 |
COL5A3 |
c.C3373T |
p.P1125S |
0.1939 |
COL5A3 |
| chr19 |
9974386 |
rs111357806 |
COL5A3 |
c.G3365A |
p.R1122H |
0.0428 |
COL5A3 |
| chr19 |
9986597 |
rs556243775 |
COL5A3 |
c.G2200A |
p.G734S |
3.3E-05 |
COL5A3 |
| chr3 |
10032962 |
rs36084488 |
FANCD2 |
c.G195C |
p.Q65H |
0.003 |
FANCD2 |
| chr2 |
10046252 |
rs765203290 |
KLF11 |
c.G94A |
p.E32K |
6.59E-05 |
KLF11 |
| chr2 |
10048496 |
. |
KLF11 |
c.G1108C |
p.D370H |
|
KLF11 |
| chr2 |
10048518 |
. |
KLF11 |
c.A1130G |
p.Y377C |
|
KLF11 |
| chr4 |
10077926 |
. |
WDR1 |
c.G1396A |
p.D466N |
|
WDR1 |
| chr19 |
10092740 |
rs548381762 |
ANGPTL6 |
c.A1262G |
p.H421R |
0.0002 |
ANGPTL6 |
| chr19 |
10113876 |
rs147013486 |
P2RY11;PPAN-P2RY11 |
c.A1523G |
p.Y508C |
1.68E-05 |
P2RY11;PPAN-P2RY11 |
| chr19 |
10114427 |
rs147142449 |
P2RY11;PPAN-P2RY11 |
c.G2074A |
p.V692M |
0.0023 |
P2RY11;PPAN-P2RY11 |
| chrX |
10136714 |
rs56399961 |
WWC3 |
c.C2845T |
p.R949C |
0.0032 |
WWC3 |
| chr19 |
10182048 |
. |
DNMT1 |
c.C110G |
p.T37R |
|
DNMT1 |
| chr12 |
10190025 |
rs542201515 |
TMEM52B |
c.G437A |
p.R146H |
0.0005 |
TMEM52B |
| chr3 |
10222796 |
rs3844283 |
IRAK2 |
c.C1174G |
p.L392V |
0.3612 |
IRAK2 |
| chr3 |
10234486 |
rs199614498 |
IRAK2 |
c.A1300T |
p.S434C |
0.0016 |
IRAK2 |
| chr3 |
10242146 |
. |
IRAK2 |
c.A1796G |
p.N599S |
|
IRAK2 |
| chr5 |
10264748 |
. |
CCT5 |
c.G1477C |
p.D493H |
|
CCT5 |
| chr19 |
10284116 |
rs1799969 |
ICAM1 |
c.G721A |
p.G241R |
0.1001 |
ICAM1 |
| chr3 |
10289835 |
rs34911341 |
GHRL |
c.G152A |
p.R51Q |
0.0069 |
GHRL |
| chr19 |
10295600 |
. |
ICAM5 |
c.G2485A |
p.V829M |
|
ICAM5 |
| chr19 |
10296455 |
. |
ICAM5 |
c.G2614T |
p.V872L |
|
ICAM5 |
| chr8 |
10301630 |
rs774632520 |
MSRA |
c.C230A |
p.P77Q |
1.65E-05 |
MSRA |
| chr1 |
10303559 |
rs374263753 |
KIF1B |
c.G2374A |
p.V792I |
0.0003 |
KIF1B |
| chr17 |
10306461 |
rs116935297 |
MYH13 |
c.C5464T |
p.R1822W |
0.0113 |
MYH13 |
| chr8 |
10319899 |
. |
MSRA |
c.C255A |
p.N85K |
|
MSRA |
| chr17 |
10320233 |
rs202075781 |
MYH13 |
c.G3268C |
p.E1090Q |
0.0013 |
MYH13 |
| chr17 |
10333147 |
rs2190729 |
MYH13 |
c.G2101A |
p.G701R |
0.0173 |
MYH13 |
| chr1 |
10337509 |
rs2297881 |
KIF1B |
c.A3260G |
p.Y1087C |
0.0325 |
KIF1B |
| chr19 |
10352442 |
rs34536443 |
TYK2 |
c.C3310G |
p.P1104A |
0.0273 |
TYK2 |
| chr19 |
10359299 |
rs12720356 |
TYK2 |
c.T2051G |
p.I684S |
0.0639 |
TYK2 |
| chr17 |
10360161 |
rs766342832 |
MYH13 |
c.C533T |
p.T178I |
6.84E-05 |
MYH13 |
| chr17 |
10362181 |
rs367783054 |
MYH13 |
c.C442T |
p.R148C |
0.0002 |
MYH13 |
| chr17 |
10362383 |
rs200117357 |
MYH13 |
c.C325T |
p.R109C |
0.0018 |
MYH13 |
| chr19 |
10378250 |
rs55762744 |
TYK2 |
c.G157A |
p.A53T |
0.008 |
TYK2 |
| chr17 |
10392944 |
rs141215006 |
MYH8 |
c.C5350G |
p.R1784G |
0.006 |
MYH8 |
| chr12 |
10433808 |
rs542207562 |
KLRC2 |
c.G466C |
p.D156H |
8.6E-05 |
KLRC2 |
| chr17 |
10445037 |
rs2277649 |
MYH4 |
c.A5405G |
p.D1802G |
0.4282 |
MYH4 |
| chr17 |
10452054 |
rs11651295 |
MYH4 |
c.G3625A |
p.E1209K |
0.4522 |
MYH4 |
| chr17 |
10452144 |
rs757546892 |
MYH4 |
c.C3535A |
p.R1179S |
1.65E-05 |
MYH4 |
| chr17 |
10459346 |
rs143641715 |
MYH4 |
c.G1492A |
p.V498M |
6.59E-05 |
MYH4 |
| chr17 |
10463636 |
. |
MYH4 |
c.T656C |
p.L219P |
|
MYH4 |
| chr18 |
10471604 |
rs371385019 |
APCDD1 |
c.A317G |
p.Y106C |
0.0006 |
APCDD1 |
| chr11 |
10495727 |
. |
AMPD3 |
c.G947A |
p.R316Q |
|
AMPD3 |
| chr17 |
10525032 |
rs529367667 |
MYH2 |
c.C4696T |
p.R1566C |
0.0004 |
MYH2 |
| chr19 |
10554003 |
. |
KRI1 |
c.G2078A |
p.R693H |
8.41E-06 |
KRI1 |
| chr20 |
10598725 |
rs78689061 |
SLX4IP |
c.C289T |
p.R97C |
0.0033 |
SLX4IP |
| chr2 |
10607266 |
rs201230711 |
NOL10 |
c.A922T |
p.T308S |
0.0004 |
NOL10 |
| chr8 |
10622715 |
rs187140236 |
RP1L1 |
c.C487T |
p.R163C |
0.0002 |
RP1L1 |
| chr20 |
10623010 |
rs549576681 |
SLX4IP |
c.T858A |
p.S286R |
0.0001 |
SLX4IP |
| chr11 |
10626171 |
rs368554401 |
MRVI1 |
c.C218T |
p.P73L |
0.0005 |
MRVI1 |
| chr6 |
10626423 |
rs786205577 |
GCNT2 |
c.A1025G |
p.Y342C |
|
GCNT2 |
| chr1 |
10645048 |
rs773451210 |
CASZ1 |
c.G3737A |
p.R1246H |
0.0001 |
CASZ1 |
| chr2 |
10671608 |
. |
NOL10 |
c.G332A |
p.G111E |
|
NOL10 |
| chr2 |
10675856 |
rs202129521 |
NOL10 |
c.G227A |
p.R76Q |
7.67E-05 |
NOL10 |
| chr6 |
10702566 |
rs62621438 |
PAK1IP1 |
c.G370A |
p.G124R |
0.0161 |
PAK1IP1 |
| chr19 |
10712964 |
. |
QTRT1 |
c.C983T |
p.A328V |
|
QTRT1 |
| chr18 |
10759816 |
rs760341535 |
PIEZO2 |
c.C3469T |
p.R1157C |
0.0002 |
PIEZO2 |
| chr11 |
10779053 |
rs541490334 |
CTR9 |
c.A3398T |
p.N1133I |
0.0004 |
CTR9 |
| chr11 |
10807270 |
rs762099037 |
EIF4G2 |
c.G26T |
p.G9V |
8.27E-06 |
EIF4G2 |
| chr19 |
10850348 |
rs73009507 |
C19orf38 |
c.C121G |
p.P41A |
0.0544 |
C19orf38 |
| chr19 |
10923919 |
. |
YIPF2 |
c.G448T |
p.G150C |
|
YIPF2 |
| chr19 |
10929035 |
. |
TIMM29 |
c.T116G |
p.L39R |
|
TIMM29 |
| chr6 |
10955175 |
rs1225746 |
SYCP2L |
c.C2014T |
p.P672S |
0.9403 |
SYCP2L |
| chr16 |
10957901 |
rs200715491 |
CLEC16A |
c.C200G |
p.S67C |
0.0007 |
CLEC16A |
| chr19 |
10991215 |
. |
SMARCA4 |
c.G1311T |
p.K437N |
|
SMARCA4 |
| chr19 |
11027833 |
. |
SMARCA4 |
c.C3265T |
p.L1089F |
|
SMARCA4 |
| chr1 |
11045485 |
rs41307788 |
MASP2 |
c.G467A |
p.C156Y |
0.0066 |
MASP2 |
| chr1 |
11059796 |
. |
SRM |
c.G148T |
p.D50Y |
|
SRM |
| chr2 |
11133569 |
rs570965112 |
C2orf50 |
c.G235C |
p.E79Q |
9.05E-05 |
C2orf50 |
| chr19 |
11217304 |
. |
DOCK6 |
c.C3638G |
p.S1213C |
|
DOCK6 |
| chr19 |
11222178 |
rs570124917 |
DOCK6 |
c.G3311A |
p.R1104Q |
0.0002 |
DOCK6 |
| chr19 |
11238284 |
rs12609039 |
DOCK6 |
c.C1664T |
p.P555L |
0.0717 |
DOCK6 |
| chr16 |
11255202 |
. |
SOCS1 |
c.C277A |
p.L93M |
|
SOCS1 |
| chr16 |
11268918 |
rs757232187 |
TNP2 |
c.G345C |
p.K115N |
0.0001 |
TNP2 |
| chr8 |
11331125 |
. |
SLC35G5 |
c.T19C |
p.Y7H |
|
SLC35G5 |
| chr8 |
11331243 |
rs6990563 |
SLC35G5 |
c.G137A |
p.G46D |
0.4625 |
SLC35G5 |
| chr16 |
11345643 |
. |
RMI2 |
c.G172A |
p.V58M |
|
RMI2 |
| chr3 |
11348028 |
rs143545741 |
ATG7 |
c.C344T |
p.P115L |
0.0011 |
ATG7 |
| chr19 |
11397491 |
rs201346905 |
RGL3 |
c.G1871A |
p.R624H |
0.0029 |
RGL3 |
| chr19 |
11402522 |
rs559094730 |
RGL3 |
c.T1262C |
p.V421A |
0.0005 |
RGL3 |
| chr19 |
11406549 |
rs201798500 |
RGL3 |
c.C866G |
p.P289R |
0.0011 |
RGL3 |
| chr19 |
11416132 |
rs757486544 |
RGL3 |
c.C442A |
p.L148M |
1.13E-05 |
RGL3 |
| chr19 |
11416990 |
rs752249354 |
RGL3 |
c.C217T |
p.R73C |
2.5E-05 |
RGL3 |
| chr7 |
11469934 |
rs2285744 |
THSD7A |
c.C2313G |
p.D771E |
0.4303 |
THSD7A |
| chr10 |
11527528 |
rs750244541 |
USP6NL |
c.G95A |
p.R32Q |
2.74E-05 |
USP6NL |
| chr2 |
11585203 |
rs548480650 |
GREB1 |
c.G944A |
p.G315E |
0.0002 |
GREB1 |
| chr17 |
11610475 |
. |
DNAH9 |
c.C694T |
p.L232F |
|
DNAH9 |
| chr1 |
11650623 |
. |
FBXO2 |
c.G234T |
p.W78C |
|
FBXO2 |
| chr17 |
11690372 |
rs139715944 |
DNAH9 |
c.G4550A |
p.R1517Q |
0.0011 |
DNAH9 |
| chr17 |
11699827 |
rs752972438 |
DNAH9 |
c.T4969A |
p.Y1657N |
3.3E-05 |
DNAH9 |
| chr1 |
11706683 |
rs367999965 |
DRAXIN |
c.G425A |
p.R142H |
3.75E-05 |
DRAXIN |
| chr19 |
11722263 |
. |
ZNF823 |
c.C725A |
p.A242D |
|
ZNF823 |
| chr6 |
11735578 |
rs201668990 |
ADTRP |
c.T550G |
p.Y184D |
0.0006 |
ADTRP |
| chr10 |
11755501 |
rs35986488 |
ECHDC3 |
c.G484A |
p.D162N |
0.063 |
ECHDC3 |
| chr2 |
11765693 |
rs766980528 |
LPIN1 |
c.G299A |
p.R100H |
3.31E-05 |
LPIN1 |
| chr17 |
11781126 |
rs768788141 |
DNAH9 |
c.C7670T |
p.T2557M |
8.34E-06 |
DNAH9 |
| chr1 |
11796321 |
rs1801133 |
MTHFR |
c.C788T |
p.A263V |
0.3037 |
MTHFR |
| chr1 |
11796327 |
rs144920629 |
MTHFR |
c.C782T |
p.A261V |
1.65E-05 |
MTHFR |
| chr1 |
11801177 |
rs767890671 |
MTHFR |
c.C582G |
p.I194M |
0.0001 |
MTHFR |
| chr19 |
11830320 |
rs370096249 |
ZNF440 |
c.C41T |
p.T14I |
0.0013 |
ZNF440 |
| chr1 |
11834005 |
rs147341529 |
CLCN6 |
c.C1435A |
p.R479S |
4.16E-05 |
CLCN6 |
| chr17 |
11834642 |
rs577577010 |
DNAH9 |
c.A9251T |
p.D3084V |
0.0001 |
DNAH9 |
| chr10 |
11869742 |
rs202165239 |
PROSER2 |
c.C644T |
p.S215F |
0.0039 |
PROSER2 |
| chr17 |
11902903 |
rs531080995 |
DNAH9 |
c.A527G |
p.Y176C |
0.0005 |
DNAH9 |
| chr17 |
11905695 |
rs760242503 |
DNAH9 |
c.G571A |
p.V191M |
1.65E-05 |
DNAH9 |
| chr16 |
11915447 |
rs11544193 |
GSPT1 |
c.G274T |
p.G92C |
0.5308 |
GSPT1 |
| chr11 |
11942737 |
rs776071039 |
USP47 |
c.C2776T |
p.L926F |
1.67E-05 |
USP47 |
| chr1 |
11958528 |
rs748920493 |
PLOD1 |
c.C997T |
p.P333S |
7.71E-05 |
PLOD1 |
| chr11 |
11967049 |
rs775760814 |
DKK3 |
c.G578A |
p.G193D |
1.65E-05 |
DKK3 |
| chr1 |
11974732 |
rs775807168 |
PLOD1 |
c.G2249A |
p.R750Q |
1.66E-05 |
PLOD1 |
| chr19 |
11978949 |
rs551536153 |
ZNF763 |
c.G1034A |
p.C345Y |
0.0021 |
ZNF763 |
| chr19 |
11978990 |
rs7250894 |
ZNF763 |
c.C1075G |
p.R359G |
0.0167 |
ZNF763 |
| chr10 |
11979066 |
. |
UPF2 |
c.C1944A |
p.F648L |
|
UPF2 |
| chr18 |
11981717 |
. |
IMPA2 |
c.G48T |
p.W16C |
|
IMPA2 |
| chr8 |
11984510 |
rs73663074 |
DEFB135 |
c.G154A |
p.E52K |
0.0139 |
DEFB135 |
| chr19 |
12015533 |
rs202067147 |
ZNF433 |
c.C1229T |
p.T410M |
0.0015 |
ZNF433 |
| chr19 |
12015633 |
. |
ZNF433 |
c.C1129T |
p.H377Y |
|
ZNF433 |
| chr1 |
12029788 |
rs2295289 |
MIIP |
c.C739T |
p.R247W |
0.003 |
MIIP |
| chr19 |
12043984 |
rs67102109 |
ZNF878 |
c.C1417G |
p.H473D |
0.0728 |
ZNF878 |
| chr19 |
12044021 |
rs574738413 |
ZNF878 |
c.C1380A |
p.F460L |
0.0003 |
ZNF878 |
| chr12 |
12094859 |
rs61739220 |
BCL2L14 |
c.A874T |
p.R292W |
0.031 |
BCL2L14 |
| chr12 |
12125343 |
rs769406679 |
LRP6 |
c.G4402A |
p.A1468T |
8.24E-06 |
LRP6 |
| chr8 |
12137966 |
rs9774478 |
USP17L2 |
c.G795C |
p.K265N |
8.65E-05 |
USP17L2 |
| chr8 |
12138276 |
rs202050503 |
USP17L2 |
c.A485T |
p.H162L |
0.1253 |
USP17L2 |
| chr8 |
12138525 |
rs201032518 |
USP17L2 |
c.G236A |
p.G79E |
7.75E-05 |
USP17L2 |
| chr8 |
12185402 |
rs775301778 |
FAM86B1 |
c.C764T |
p.T255M |
9.11E-05 |
FAM86B1 |
| chr8 |
12185412 |
rs143411140 |
FAM86B1 |
c.A754C |
p.N252H |
0.0407 |
FAM86B1 |
| chr8 |
12185415 |
rs200255336 |
FAM86B1 |
c.C751A |
p.R251S |
0.0125 |
FAM86B1 |
| chr8 |
12186577 |
rs749586537 |
FAM86B1 |
c.C415T |
p.L139F |
0.0051 |
FAM86B1 |
| chr11 |
12204450 |
rs746628783 |
MICAL2 |
c.C465A |
p.D155E |
8.26E-06 |
MICAL2 |
| chr19 |
12273704 |
rs757345087 |
ZNF44 |
c.T695G |
p.L232R |
0.0002 |
ZNF44 |
| chr18 |
12337481 |
rs551015841 |
AFG3L2 |
c.C2035T |
p.R679C |
0.0001 |
AFG3L2 |
| chr19 |
12349984 |
rs750098525 |
ZNF442 |
c.A1601G |
p.H534R |
0.0001 |
ZNF442 |
| chr7 |
12361157 |
rs35171886 |
VWDE |
c.G2339A |
p.C780Y |
0.1198 |
VWDE |
| chr7 |
12369637 |
rs17165906 |
VWDE |
c.G1859T |
p.C620F |
0.1482 |
VWDE |
| chr7 |
12370493 |
. |
VWDE |
c.A1003C |
p.S335R |
|
VWDE |
| chr19 |
12391679 |
rs199602674 |
ZNF799 |
c.A623G |
p.Y208C |
0.004 |
ZNF799 |
| chr8 |
12427693 |
rs200871887 |
FAM86B2 |
c.A856C |
p.N286H |
0.0646 |
FAM86B2 |
| chr8 |
12428649 |
rs7844327 |
FAM86B2 |
c.T726A |
p.D242E |
0.0508 |
FAM86B2 |
| chr8 |
12430405 |
rs79061869 |
FAM86B2 |
c.T287C |
p.L96P |
0.031 |
FAM86B2 |
| chr19 |
12430728 |
rs34507016 |
ZNF443 |
c.G1444A |
p.G482R |
0.2692 |
ZNF443 |
| chr19 |
12430733 |
rs74181783 |
ZNF443 |
c.A1439C |
p.K480T |
0.4114 |
ZNF443 |
| chr19 |
12433160 |
rs62110661 |
ZNF443 |
c.C41T |
p.T14I |
0.0184 |
ZNF443 |
| chr11 |
12504376 |
rs774089763 |
PARVA |
c.C724T |
p.R242C |
8.37E-06 |
PARVA |
| chr3 |
12585755 |
. |
RAF1 |
c.G1462T |
p.G488C |
|
RAF1 |
| chr19 |
12628613 |
. |
ZNF791 |
c.G1084A |
p.G362R |
|
ZNF791 |
| chr19 |
12628919 |
rs550302847 |
ZNF791 |
c.G1390A |
p.G464R |
0.0003 |
ZNF791 |
| chr7 |
12644620 |
rs576384572 |
SCIN |
c.A1796T |
p.Y599F |
0.0004 |
SCIN |
| chr1 |
12666025 |
rs142659885 |
AADACL4 |
c.C514G |
p.H172D |
0.0024 |
AADACL4 |
| chrY |
12736418 |
. |
USP9Y |
c.C1033A |
p.Q345K |
|
USP9Y |
| chr17 |
12753229 |
rs28730825 |
MYOCD |
c.G1941C |
p.Q647H |
0.0206 |
MYOCD |
| chr10 |
12760974 |
. |
CAMK1D |
c.G35A |
p.R12Q |
|
CAMK1D |
| chr19 |
12763341 |
rs534259244 |
HOOK2 |
c.C2095T |
p.R699C |
0.0016 |
HOOK2 |
| chr19 |
12767887 |
rs200777754 |
HOOK2 |
c.G1232A |
p.R411Q |
0.0005 |
HOOK2 |
| chr19 |
12769999 |
rs528310796 |
HOOK2 |
c.G986A |
p.R329Q |
7.27E-05 |
HOOK2 |
| chr1 |
12777526 |
rs201008398 |
PRAMEF12 |
c.G1379T |
p.G460V |
0.0255 |
PRAMEF12 |
| chr1 |
12795881 |
rs147283045 |
PRAMEF1 |
c.T575C |
p.L192P |
0.0044 |
PRAMEF1 |
| chr19 |
12800208 |
rs376456268 |
PRDX2 |
c.G349A |
p.V117M |
1.66E-05 |
PRDX2 |
| chr19 |
12810161 |
rs772940870 |
RNASEH2A |
c.G502T |
p.A168S |
4.12E-05 |
RNASEH2A |
| chrY |
12833752 |
rs759789874 |
USP9Y |
c.G5086A |
p.V1696M |
5.97E-05 |
USP9Y |
| chr19 |
12847863 |
. |
MAST1 |
c.G580C |
p.E194Q |
|
MAST1 |
| chr1 |
12847866 |
rs201144572 |
HNRNPCL1 |
c.C424T |
p.P142S |
0.0013 |
HNRNPCL1 |
| chr1 |
12879683 |
rs138447937 |
PRAMEF4 |
c.T1298G |
p.F433C |
0.0082 |
PRAMEF4 |
| chr1 |
12892944 |
rs200215952 |
PRAMEF10 |
c.A1397G |
p.E466G |
6.98E-05 |
PRAMEF10 |
| chr1 |
12893103 |
rs202151270 |
PRAMEF10 |
c.C1238A |
p.P413H |
0 |
PRAMEF10 |
| chr1 |
12893161 |
rs200671243 |
PRAMEF10 |
c.C1180G |
p.L394V |
0.0012 |
PRAMEF10 |
| chr1 |
12893295 |
rs200464146 |
PRAMEF10 |
c.C1046T |
p.A349V |
|
PRAMEF10 |
| chr1 |
12893329 |
rs202058855 |
PRAMEF10 |
c.G1012C |
p.E338Q |
0 |
PRAMEF10 |
| chr1 |
12895156 |
rs773296462 |
PRAMEF10 |
c.A296T |
p.K99I |
1.04E-05 |
PRAMEF10 |
| chr19 |
12924507 |
rs776938985 |
FARSA |
c.C1215A |
p.F405L |
1.65E-05 |
FARSA |
| chr3 |
12935487 |
rs141003089 |
IQSEC1 |
c.G1205A |
p.R402H |
0.0014 |
IQSEC1 |
| chr1 |
12938859 |
rs6604961 |
PRAMEF6 |
c.C1247T |
p.P416L |
|
PRAMEF6 |
| chr1 |
12938869 |
. |
PRAMEF6 |
c.T1237C |
p.Y413H |
|
PRAMEF6 |
| chr1 |
12938934 |
rs200768992 |
PRAMEF6 |
c.C1172G |
p.S391C |
0.0556 |
PRAMEF6 |
| chr1 |
12938982 |
rs199870986 |
PRAMEF6 |
c.G1124A |
p.S375N |
|
PRAMEF6 |
| chr1 |
12939075 |
rs6604962 |
PRAMEF6 |
c.T1031C |
p.L344P |
|
PRAMEF6 |
| chr17 |
12974310 |
. |
ARHGAP44 |
c.G1145T |
p.S382I |
|
ARHGAP44 |
| chr12 |
12975329 |
rs1941 |
HEBP1 |
c.G549C |
p.E183D |
0.025 |
HEBP1 |
| chr8 |
13021082 |
. |
KIAA1456 |
c.G25A |
p.G9S |
|
KIAA1456 |
| chr6 |
13053521 |
rs754343376 |
PHACTR1 |
c.C410T |
p.T137M |
2.75E-05 |
PHACTR1 |
| chr18 |
13057656 |
rs61740922 |
CEP192 |
c.C4180T |
p.L1394F |
0.0181 |
CEP192 |
| chr9 |
13107075 |
rs745854560 |
MPDZ |
c.G6103A |
p.D2035N |
7.46E-05 |
MPDZ |
| chr19 |
13112787 |
rs772113572 |
TRMT1 |
c.C788T |
p.A263V |
1.66E-05 |
TRMT1 |
| chr19 |
13112896 |
. |
TRMT1 |
c.G757T |
p.G253W |
|
TRMT1 |
| chr10 |
13124008 |
. |
OPTN |
c.T896C |
p.V299A |
|
OPTN |
| chr10 |
13204349 |
rs148330476 |
MCM10 |
c.C2486T |
p.P829L |
0.0004 |
MCM10 |
| chr10 |
13209099 |
rs544718421 |
MCM10 |
c.G2510A |
p.G837D |
0.0003 |
MCM10 |
| chr20 |
13221790 |
. |
ISM1 |
c.C14T |
p.A5V |
|
ISM1 |
| chr10 |
13222162 |
rs147328988 |
UCMA |
c.C196T |
p.R66C |
0.0003 |
UCMA |
| chrY |
13302928 |
. |
UTY |
c.G2966T |
p.W989L |
|
UTY |
| chr11 |
13365524 |
rs557834190 |
ARNTL |
c.G355A |
p.V119I |
0.0003 |
ARNTL |
| chr17 |
13496364 |
. |
HS3ST3A1 |
c.C1054A |
p.L352M |
|
HS3ST3A1 |
| chr3 |
13570968 |
rs199643829 |
FBLN2 |
c.G613A |
p.E205K |
1.12E-05 |
FBLN2 |
| chr4 |
13577445 |
rs537476534 |
BOD1L1 |
c.G8842A |
p.G2948R |
0.0003 |
BOD1L1 |
| chr6 |
13591676 |
rs141049222 |
SIRT5 |
c.C257T |
p.A86V |
0.0003 |
SIRT5 |
| chr3 |
13614017 |
. |
FBLN2 |
c.G1582A |
p.V528M |
|
FBLN2 |
| chr20 |
13625219 |
. |
TASP1 |
c.A179G |
p.E60G |
|
TASP1 |
| chr6 |
13625659 |
rs779678243 |
RANBP9 |
c.A2053G |
p.I685V |
1.65E-05 |
RANBP9 |
| chrX |
13633036 |
rs16979033 |
EGFL6 |
c.G1606A |
p.D536N |
0.0381 |
EGFL6 |
| chr20 |
13714879 |
rs775535941 |
ESF1 |
c.A2551G |
p.K851E |
9.19E-06 |
ESF1 |
| chr5 |
13718909 |
rs3756672 |
DNAH5 |
c.C12472T |
p.R4158W |
0.0042 |
DNAH5 |
| chr5 |
13737335 |
rs17263496 |
DNAH5 |
c.C11372T |
p.T3791I |
0.1012 |
DNAH5 |
| chr19 |
13759008 |
rs763757735 |
CCDC130 |
c.C251T |
p.T84I |
0.0001 |
CCDC130 |
| chr19 |
13808947 |
rs149065965 |
ZSWIM4 |
c.A824G |
p.Y275C |
0.0022 |
ZSWIM4 |
| chr18 |
13826036 |
rs538464430 |
MC5R |
c.T271C |
p.W91R |
0.0016 |
MC5R |
| chr18 |
13826392 |
rs2236700 |
MC5R |
c.C627G |
p.F209L |
0.2071 |
MC5R |
| chr19 |
13828652 |
rs769400704 |
ZSWIM4 |
c.G2036A |
p.R679Q |
0.0002 |
ZSWIM4 |
| chr5 |
13830716 |
. |
DNAH5 |
c.C5942A |
p.P1981H |
|
DNAH5 |
| chr5 |
13859595 |
rs369137751 |
DNAH5 |
c.C4807A |
p.P1603T |
0.0027 |
DNAH5 |
| chr19 |
13913292 |
rs559696209 |
CC2D1A |
c.G503A |
p.R168Q |
3.43E-05 |
CC2D1A |
| chr19 |
13918945 |
rs576388238 |
CC2D1A |
c.C1052T |
p.A351V |
4.89E-05 |
CC2D1A |
| chr19 |
13929429 |
rs772528161 |
CC2D1A |
c.G2570A |
p.R857H |
8.31E-06 |
CC2D1A |
| chr19 |
13933056 |
. |
PODNL1 |
c.C915A |
p.S305R |
|
PODNL1 |
| chr19 |
13933169 |
rs376362504 |
PODNL1 |
c.C802T |
p.R268C |
0.0009 |
PODNL1 |
| chr19 |
13933939 |
rs369749137 |
PODNL1 |
c.C454T |
p.R152C |
0.0014 |
PODNL1 |
| chr16 |
13935176 |
rs1800067 |
ERCC4 |
c.G1244A |
p.R415Q |
0.0557 |
ERCC4 |
| chr10 |
14008127 |
rs536644917 |
FRMD4A |
c.C26T |
p.P9L |
0.0001 |
FRMD4A |
| chrX |
14009058 |
rs3747421 |
GEMIN8 |
c.A584T |
p.E195V |
0.0131 |
GEMIN8 |
| chr19 |
14053817 |
rs75841596 |
PALM3 |
c.G1810A |
p.D604N |
0.0286 |
PALM3 |
| chr19 |
14089190 |
rs557559415 |
SAMD1 |
c.G809T |
p.R270M |
0.0006 |
SAMD1 |
| chr19 |
14090360 |
. |
SAMD1 |
c.G61C |
p.A21P |
|
SAMD1 |
| chr3 |
14139231 |
rs113449357 |
TMEM43 |
c.C934T |
p.R312W |
0.009 |
TMEM43 |
| chr9 |
14150238 |
. |
NFIB |
c.A791G |
p.N264S |
|
NFIB |
| chr21 |
14152600 |
rs74369337 |
LIPI |
c.G1073A |
p.G358E |
0.0711 |
LIPI |
| chr3 |
14159812 |
rs367961191 |
XPC |
c.C919T |
p.R307W |
|
XPC |
| chr19 |
14162786 |
rs573132089 |
ADGRL1 |
c.G1030A |
p.V344M |
0.0003 |
ADGRL1 |
| chr21 |
14189302 |
rs11909217 |
LIPI |
c.G164A |
p.C55Y |
0.0049 |
LIPI |
| chr17 |
14235863 |
. |
CDRT15 |
c.G362A |
p.G121D |
|
CDRT15 |
| chr11 |
14294502 |
. |
RRAS2 |
c.G272A |
p.G91D |
|
RRAS2 |
| chr12 |
14460645 |
rs764840903 |
ATF7IP |
c.G2306A |
p.G769E |
2.47E-05 |
ATF7IP |
| chr19 |
14463843 |
rs377340991 |
PKN1 |
c.G1529A |
p.R510H |
0.0001 |
PKN1 |
| chr19 |
14478723 |
rs544474520 |
GIPC1 |
c.C520A |
p.L174M |
0.0007 |
GIPC1 |
| chr19 |
14482972 |
rs529101052 |
GIPC1 |
c.C5T |
p.P2L |
0.0004 |
GIPC1 |
| chr5 |
14498608 |
rs146227809 |
TRIO |
c.C8300T |
p.S2767L |
0.0012 |
TRIO |
| chr12 |
14503834 |
rs1600 |
PLBD1 |
c.C1600G |
p.P534A |
0.4879 |
PLBD1 |
| chr12 |
14535796 |
. |
PLBD1 |
c.C707T |
p.P236L |
|
PLBD1 |
| chr18 |
14537950 |
rs7505568 |
POTEC |
c.T661C |
p.C221R |
0.1981 |
POTEC |
| chr18 |
14542932 |
rs45554841 |
POTEC |
c.G215A |
p.C72Y |
0.1715 |
POTEC |
| chr19 |
14641532 |
rs59183049 |
ADGRE3 |
c.C757G |
p.L253V |
0.013 |
ADGRE3 |
| chr3 |
14654454 |
rs201187132 |
CCDC174 |
c.G71A |
p.R24Q |
2.77E-05 |
CCDC174 |
| chr5 |
14678739 |
. |
OTULIN |
c.G288T |
p.W96C |
|
OTULIN |
| chr3 |
14682838 |
rs17040154 |
C3orf20 |
c.G125A |
p.G42D |
0.066 |
C3orf20 |
| chr3 |
14759978 |
rs542535243 |
C3orf20 |
c.G1966A |
p.V656M |
9.91E-05 |
C3orf20 |
| chr9 |
14784494 |
rs121912610 |
FREM1 |
c.G4318A |
p.G1440S |
2.5E-05 |
FREM1 |
| chr12 |
14790552 |
rs149086245 |
WBP11 |
c.C1213T |
p.P405S |
0.0038 |
WBP11 |
| chr9 |
14797518 |
rs7025814 |
FREM1 |
c.T3819A |
p.D1273E |
0.0224 |
FREM1 |
| chr9 |
14801792 |
rs548077832 |
FREM1 |
c.T3554C |
p.F1185S |
5.8E-05 |
FREM1 |
| chr12 |
14806536 |
rs11609202 |
SMCO3 |
c.T145C |
p.C49R |
0.0318 |
SMCO3 |
| chr3 |
14820909 |
rs781520148 |
FGD5 |
c.T1838C |
p.V613A |
5.83E-05 |
FGD5 |
| chr12 |
14823503 |
rs577685882 |
C12orf60 |
c.A568G |
p.K190E |
0.0003 |
C12orf60 |
| chr19 |
14840998 |
rs144304833 |
OR7A10 |
c.A880G |
p.N294D |
0.0004 |
OR7A10 |
| chr19 |
14841500 |
. |
OR7A10 |
c.C378G |
p.I126M |
|
OR7A10 |
| chr19 |
14841757 |
rs761481257 |
OR7A10 |
c.G121A |
p.G41R |
2.47E-05 |
OR7A10 |
| chr19 |
14841771 |
rs28540032 |
OR7A10 |
c.T107C |
p.L36P |
0.0114 |
OR7A10 |
| chr9 |
14842562 |
rs200642807 |
FREM1 |
c.C1492T |
p.R498W |
0.0011 |
FREM1 |
| chr9 |
14846064 |
rs572625460 |
FREM1 |
c.G1289A |
p.R430Q |
0.0011 |
FREM1 |
| chr9 |
14857605 |
rs530182229 |
FREM1 |
c.A776G |
p.Y259C |
1.66E-05 |
FREM1 |
| chrX |
14859282 |
rs41309679 |
FANCB |
c.G1004A |
p.G335E |
0.064 |
FANCB |
| chr11 |
14879272 |
. |
CYP2R1 |
c.G1172C |
p.G391A |
|
CYP2R1 |
| chr19 |
14880647 |
rs13345394 |
OR7A17 |
c.G709A |
p.A237T |
0.036 |
OR7A17 |
| chr19 |
14941853 |
rs11883178 |
OR7C2 |
c.G365A |
p.R122H |
0.0182 |
OR7C2 |
| chr21 |
14966851 |
rs2229742 |
NRIP1 |
c.C1342G |
p.R448G |
0.0805 |
NRIP1 |
| chr10 |
14972618 |
. |
MEIG1 |
c.A244G |
p.K82E |
|
MEIG1 |
| chr19 |
15011084 |
rs568806898 |
CCDC105 |
c.C259A |
p.P87T |
0.005 |
CCDC105 |
| chr19 |
15011331 |
rs867336188 |
CCDC105 |
c.G506A |
p.R169H |
|
CCDC105 |
| chr19 |
15020464 |
rs117318288 |
CCDC105 |
c.C679G |
p.L227V |
0.0035 |
CCDC105 |
| chr10 |
15061745 |
rs150137442 |
OLAH |
c.G185C |
p.G62A |
0.0003 |
OLAH |
| chr19 |
15087795 |
rs73008812 |
OR1I1 |
c.C730T |
p.H244Y |
0.1942 |
OR1I1 |
| chr19 |
15087820 |
rs8105737 |
OR1I1 |
c.A755C |
p.Y252S |
0.6064 |
OR1I1 |
| chr19 |
15087909 |
rs75323205 |
OR1I1 |
c.A844T |
p.I282F |
0.0215 |
OR1I1 |
| chr19 |
15116179 |
rs540999139 |
ILVBL |
c.C1444T |
p.R482C |
0.0004 |
ILVBL |
| chr19 |
15122921 |
rs59102460 |
ILVBL |
c.C575T |
p.A192V |
0.0198 |
ILVBL |
| chr19 |
15161446 |
. |
NOTCH3 |
c.A6182C |
p.K2061T |
|
NOTCH3 |
| chr11 |
15178366 |
rs199801018 |
INSC |
c.G498T |
p.K166N |
0.002 |
INSC |
| chr11 |
15190800 |
rs556785106 |
INSC |
c.C784T |
p.R262C |
0.0002 |
INSC |
| chr19 |
15191645 |
rs749561286 |
NOTCH3 |
c.C815T |
p.T272M |
0.0001 |
NOTCH3 |
| chr9 |
15192621 |
rs560744000 |
TTC39B |
c.G404C |
p.G135A |
0.0012 |
TTC39B |
| chr11 |
15200872 |
rs201061980 |
INSC |
c.C742T |
p.R248W |
5.86E-05 |
INSC |
| chr11 |
15221513 |
rs17507577 |
INSC |
c.G730A |
p.D244N |
0.0684 |
INSC |
| chr11 |
15235620 |
rs113337994 |
INSC |
c.A1063G |
p.N355D |
0.0025 |
INSC |
| chr11 |
15239026 |
rs566217542 |
INSC |
c.C1219T |
p.R407C |
0.0014 |
INSC |
| chr19 |
15239814 |
rs35676845 |
BRD4 |
c.G3290A |
p.R1097H |
0.0106 |
BRD4 |
| chr10 |
15254730 |
. |
FAM171A1 |
c.A568G |
p.N190D |
|
FAM171A1 |
| chr19 |
15267551 |
. |
BRD4 |
c.C424G |
p.P142A |
|
BRD4 |
| chr10 |
15275921 |
. |
FAM171A1 |
c.C352T |
p.L118F |
|
FAM171A1 |
| chr10 |
15283887 |
rs771088600 |
FAM171A1 |
c.C316T |
p.R106W |
1.65E-05 |
FAM171A1 |
| chr2 |
15287137 |
rs779626422 |
NBAS |
c.C5074T |
p.R1692C |
2.48E-05 |
NBAS |
| chr17 |
15314163 |
rs17852986 |
TEKT3 |
c.G802A |
p.D268N |
4.12E-05 |
TEKT3 |
| chr1 |
15360563 |
rs4661330 |
FHAD1 |
c.A2756G |
p.E919G |
0.2354 |
FHAD1 |
| chr1 |
15360625 |
rs528012255 |
FHAD1 |
c.G2818A |
p.E940K |
4.49E-05 |
FHAD1 |
| chr19 |
15373119 |
rs547463044 |
AKAP8 |
c.G593A |
p.R198Q |
0.0001 |
AKAP8 |
| chr2 |
15379615 |
rs558365811 |
NBAS |
c.A3577G |
p.M1193V |
0.0001 |
NBAS |
| chr1 |
15440577 |
rs515726209 |
CTRC |
c.G217A |
p.A73T |
0.0007 |
CTRC |
| chr19 |
15448205 |
rs201021403 |
WIZ |
c.G103A |
p.E35K |
0.0014 |
WIZ |
| chr9 |
15453150 |
rs146075837 |
SNAPC3 |
c.T925A |
p.Y309N |
|
SNAPC3 |
| chr19 |
15454783 |
rs375317705 |
RASAL3 |
c.G1832A |
p.R611Q |
0.0007 |
RASAL3 |
| chr1 |
15462749 |
rs184977621 |
CELA2A |
c.C244T |
p.R82C |
0.0003 |
CELA2A |
| chr2 |
15468530 |
. |
NBAS |
c.A1729G |
p.K577E |
|
NBAS |
| chr19 |
15469874 |
. |
PGLYRP2 |
c.G1399T |
p.G467C |
|
PGLYRP2 |
| chrX |
15479812 |
rs545530472 |
PIR |
c.C106A |
p.L36M |
0.0003 |
PIR |
| chr1 |
15504656 |
rs200754043 |
CASP9 |
c.C574A |
p.L192M |
5.8E-05 |
CASP9 |
| chr12 |
15516954 |
rs368334371 |
PTPRO |
c.G1777A |
p.V593M |
0.0004 |
PTPRO |
| chr4 |
15540994 |
rs199768782 |
CC2D2A |
c.C2161T |
p.P721S |
0.0053 |
CC2D2A |
| chr7 |
15544808 |
. |
AGMO |
c.G373T |
p.D125Y |
|
AGMO |
| chr3 |
15586566 |
rs754482721 |
HACL1 |
c.C337T |
p.R113C |
2.48E-05 |
HACL1 |
| chr12 |
15589541 |
rs528784695 |
PTPRO |
c.G980C |
p.G327A |
0.0005 |
PTPRO |
| chr12 |
15589541 |
rs528784695 |
PTPRO |
c.G1064C |
p.G355A |
0.0005 |
PTPRO |
| chr10 |
15604251 |
rs551611225 |
ITGA8 |
c.T2030A |
p.I677K |
0.0001 |
ITGA8 |
| chr17 |
15636254 |
rs558803411 |
TRIM16 |
c.G145T |
p.V49F |
0.0003 |
TRIM16 |
| chr3 |
15644824 |
rs397507176 |
BTD |
c.A908G |
p.H303R |
0.0023 |
BTD |
| chr3 |
15645186 |
rs13078881 |
BTD |
c.G1270C |
p.D424H |
0.0317 |
BTD |
| chr4 |
15686981 |
rs2302469 |
FAM200B |
c.G4C |
p.D2H |
0.1244 |
FAM200B |
| chr4 |
15687865 |
. |
FAM200B |
c.T888G |
p.S296R |
|
FAM200B |
| chr3 |
15694747 |
. |
ANKRD28 |
c.C1495T |
p.H499Y |
|
ANKRD28 |
| chr4 |
15703251 |
rs2302468 |
BST1 |
c.G107C |
p.G36A |
0.0646 |
BST1 |
| chr4 |
15722897 |
rs144197373 |
BST1 |
c.G814A |
p.V272M |
0.0023 |
BST1 |
| chr17 |
15738296 |
rs202131240 |
TBC1D26 |
c.A296G |
p.Y99C |
0.0001 |
TBC1D26 |
| chr19 |
15742270 |
rs2240229 |
OR10H3 |
c.G878A |
p.S293N |
0.1877 |
OR10H3 |
| chr1 |
15744439 |
rs530209857 |
TMEM82 |
c.C616T |
p.R206C |
0.0006 |
TMEM82 |
| chr1 |
15770414 |
. |
FBLIM1 |
c.T256C |
p.C86R |
|
FBLIM1 |
| chr1 |
15770415 |
. |
FBLIM1 |
c.G257T |
p.C86F |
|
FBLIM1 |
| chr19 |
15794695 |
rs62106066 |
OR10H5 |
c.T647C |
p.L216P |
0.0828 |
OR10H5 |
| chr19 |
15807391 |
rs201868341 |
OR10H1 |
c.T647C |
p.L216P |
0.004 |
OR10H1 |
| chr19 |
15807992 |
rs4808383 |
OR10H1 |
c.G46C |
p.G16R |
0.1874 |
OR10H1 |
| chr19 |
15879621 |
rs2108622 |
CYP4F2 |
c.G1297A |
p.V433M |
0.2726 |
CYP4F2 |
| chr19 |
15885990 |
. |
CYP4F2 |
c.A1049G |
p.Y350C |
|
CYP4F2 |
| chr1 |
15933258 |
rs780023631 |
SPEN |
c.C7018T |
p.R2340C |
4.14E-05 |
SPEN |
| chr19 |
15934266 |
rs144570608 |
CYP4F11 |
c.T143A |
p.L48H |
0.0046 |
CYP4F11 |
| chr12 |
15982380 |
rs528639743 |
DERA |
c.G581A |
p.G194E |
0.0005 |
DERA |
| chr11 |
16014996 |
rs746874103 |
SOX6 |
c.G1717T |
p.D573Y |
1.66E-05 |
SOX6 |
| chr1 |
16030476 |
rs375233250 |
CLCNKA |
c.C1295T |
p.S432L |
0.0011 |
CLCNKA |
| chr1 |
16033179 |
rs528421254 |
CLCNKA |
c.C1810T |
p.L604F |
0.0013 |
CLCNKA |
| chr1 |
16033642 |
rs12746751 |
CLCNKA |
c.C1919T |
p.P640L |
0.0796 |
CLCNKA |
| chr1 |
16049650 |
rs577234417 |
CLCNKB |
c.C307T |
p.R103W |
6.02E-05 |
CLCNKB |
| chr1 |
16055706 |
rs143663847 |
CLCNKB |
c.G1367A |
p.C456Y |
0.0229 |
CLCNKB |
| chr1 |
16060046 |
rs777266764 |
FAM131C |
c.G274A |
p.V92M |
5.33E-05 |
FAM131C |
| chr1 |
16062107 |
rs200579113 |
FAM131C |
c.C260T |
p.S87F |
0.003 |
FAM131C |
| chr1 |
16148708 |
rs150790360 |
EPHA2 |
c.G331A |
p.V111M |
0.0015 |
EPHA2 |
| chr1 |
16148893 |
rs749562190 |
EPHA2 |
c.G146A |
p.R49H |
1.65E-05 |
EPHA2 |
| chr1 |
16150928 |
rs147977279 |
EPHA2 |
c.C121G |
p.L41V |
0.0024 |
EPHA2 |
| chr8 |
16155139 |
rs22 |