chr chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 loc geneName type dbSNP refAllele snpCode strand depth transcriptID geneID startCodonLoc distToExon codonSeq oldAA newSeqs newAA nsORss zygosity 3745535 KIAA0562 CDS rs1891941 T C ENST00000378230 ENSG00000116198 3758829 8 GAA E GAG E ssSNP 3745535 KIAA0562 CDS rs1891941 T C ENST00000378224 ENSG00000116198 3758829 8 GAA E GAG E ssSNP 3745535 KIAA0562 CDS rs1891941 T C ENST00000428079 ENSG00000116198 3758829 8 GAA E GAG E ssSNP 6627222 DNAJC11 CDS rs200458:rs17851110 A G ENST00000377577 ENSG00000007923 6684445 17 GGT G GGC G ssSNP 6627222 DNAJC11 CDS rs200458:rs17851110 A G ENST00000294401 ENSG00000007923 6684445 17 GGT G GGC G ssSNP 7792635 PER3 CDS rs228669 T C + ENST00000377532 ENSG00000049246 7767525 33 AGT S AGC S ssSNP 7792635 PER3 CDS rs228669 T C + ENST00000361923 ENSG00000049246 7767525 33 AGT S AGC S ssSNP 10518928 PEX14 CDS rs12375 C T + ENST00000356607 ENSG00000142655 10457611 13 TTC F TTT F ssSNP 11777044 MTHFR CDS rs4846051 G A ENST00000376592 ENSG00000177000 11785758 42 TTC F TTT F ssSNP 11777044 MTHFR CDS rs4846051 G A ENST00000376583 ENSG00000177000 11786156 42 TTC F TTT F ssSNP 11777044 MTHFR CDS rs4846051 G A ENST00000376590 ENSG00000177000 11785758 42 TTC F TTT F ssSNP 11777044 MTHFR CDS rs4846051 G A ENST00000376585 ENSG00000177000 11786156 42 TTC F TTT F ssSNP 12758455 PRAMEF12 CDS rs1812242 T C + ENST00000357726 ENSG00000116726 12757598 182 ATG M ACG T nsSNP 12760221 PRAMEF12 CDS rs848578 T A + ENST00000357726 ENSG00000116726 12757598 415 ATT I ATA I ssSNP 13320870 PRAMEF13 CDS rs55990133 A G ENST00000376132 ENSG00000204495 13323421 325 TTG L CTG L ssSNP 15639623 CTRC CDS rs497078 C T + ENST00000400792 ENSG00000162438 15637548 47 GGC G GGT G ssSNP 15639623 CTRC CDS rs497078 C T + ENST00000375949 ENSG00000162438 15637548 47 GGC G GGT G ssSNP 15705130 CASP9 CDS rs1052576 T C ENST00000375890 ENSG00000132906 NSCF 31 * * * * * * 15705130 CASP9 CDS rs1052576 T C ENST00000333868 ENSG00000132906 15723280 31 CAG Q CGG R nsSNP 15705130 CASP9 CDS rs1052576 T C ENST00000375874 ENSG00000132906 15706140 31 CAG Q CGG R nsSNP 15705130 CASP9 CDS rs1052576 T C ENST00000424908 ENSG00000132906 NSCF 31 * * * * * * 15705130 CASP9 CDS rs1052576 T C ENST00000447522 ENSG00000132906 15717358 31 CAG Q CGG R nsSNP 16245711 CLCNKB CDS rs5257 A G + ENST00000331579 ENSG00000184908 16243575 34 TCA S TCG S ssSNP 16245711 CLCNKB CDS rs5257 A G + chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 ENST00000375679 ENSG00000184908 16243575 34 ssSNP 17530121 PADI4 CDS rs11203366 G A + ENSG00000159339 17507305 70 GGC G AGC 17530121 PADI4 CDS rs11203366 G A + ENSG00000159339 17507305 70 GGC G AGC 17530121 PADI4 CDS rs11203366 G A + ENSG00000159339 17507305 70 GGC G AGC 17535249 PADI4 CDS rs1748033 T C + ENSG00000159339 17507305 8 TTG L CTG 20855218 DDOST CDS rs4704 G A ENSG00000244038 20860479 37 GGC G GGT 20855218 DDOST CDS rs4704 G A ENSG00000244038 20860479 37 GGC G GGT 21039991 EIF4G3 CDS rs58732904:rs7553394 ENST00000264211 ENSG00000075151 21201820 55 ssSNP 21039991 EIF4G3 CDS rs58732904:rs7553394 ENST00000400415 ENSG00000075151 NSCF 55 * * 21039991 EIF4G3 CDS rs58732904:rs7553394 ENST00000374935 ENSG00000075151 NSCF 55 * * 21039991 EIF4G3 CDS rs58732904:rs7553394 ENST00000400422 ENSG00000075151 21201820 55 ssSNP 21039991 EIF4G3 CDS rs58732904:rs7553394 ENST00000400409 ENSG00000075151 NSCF 55 * * 21039991 EIF4G3 CDS rs58732904:rs7553394 ENST00000435383 ENSG00000075151 21046901 55 ssSNP 22208864 CELA3A CDS rs3820285 C G ENST00000290122 ENSG00000142789 22200755 73 nsSNP 22208864 CELA3A CDS rs3820285 C G ENST00000400271 ENSG00000142789 NSCF 73 * * 23292442 LUZP1 CDS rs1983965 T C ENSG00000169641 23293339 1018 ACA T ACG 23292442 LUZP1 CDS rs1983965 T C ENSG00000169641 23293339 1018 ACA T ACG 23292442 LUZP1 CDS rs1983965 T C ENSG00000169641 23293339 1018 ACA T ACG 23568739 C1orf213 CDS rs665977 G A ENST00000335648 ENSG00000187251 23568378 423 nsSNP 24337700 IL22RA1 CDS rs10903022 C T ENST00000270800 ENSG00000142677 24342157 41 ssSNP 26454678 CCDC21 CDS rs3795686 G A ENST00000252992 ENSG00000130695 26438862 265 nsSNP 26454678 CCDC21 CDS rs3795686 G A ENST00000451429 ENSG00000130695 26438862 265 nsSNP 26500065 UBXN11 CDS rs2276712 T C ENST00000314675 ENSG00000158062 26501959 37 ssSNP TCA S TCG S G A TTA ENST00000375453 nsSNP ENST00000375448 nsSNP ENST00000358829 nsSNP ENST00000375448 ssSNP ENST00000375048 ssSNP ENST00000415136 ssSNP G L CTA L A * G * * * A * G * * * A TTA G L CTA L A * G * * * A TTA G L CTA L + GCC A GGC G + * * * * S S S L G T T T + CGA ENST00000374623 ssSNP ENST00000418342 ssSNP ENST00000314174 ssSNP R CAA Q CCG P CCA P + AGC S AAC N + AGC S AAC N TCA S TCG S chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 26500065 UBXN11 CDS rs2276712 T ENST00000374222 ENSG00000158062 26501959 ssSNP 26500065 UBXN11 CDS rs2276712 T ENST00000374221 ENSG00000158062 26501959 ssSNP 26500065 UBXN11 CDS rs2276712 T ENST00000436301 ENSG00000158062 26501959 ssSNP 26500065 UBXN11 CDS rs2276712 T ENST00000374215 ENSG00000158062 26500086 ssSNP 26500065 UBXN11 CDS rs2276712 T ENST00000423664 ENSG00000158062 26500086 ssSNP 26500065 UBXN11 CDS rs2276712 T ENST00000421827 ENSG00000158062 26501959 ssSNP 28081892 C1orf38 CDS rs3766398 A ENST00000328928 ENSG00000130775 28071670 ssSNP 28081892 C1orf38 CDS rs3766398 A ENST00000373921 ENSG00000130775 28071670 ssSNP 28081892 C1orf38 CDS rs3766398 A ENST00000456990 ENSG00000130775 NSCF 249 * 31674866 SERINC2 CDS rs34728687 G ENST00000373710 ENSG00000168528 31655272 nsSNP 31674866 SERINC2 CDS rs34728687 G ENST00000373709 ENSG00000168528 31658700 nsSNP 31674866 AC114494.3 CDS rs34728687 G ENST00000419858 ENSG00000233530 31675199 ssSNP 31936793 COL16A1 CDS rs2228550 T ENST00000373672 ENSG00000084636 31940379 ssSNP 31936793 COL16A1 CDS rs2228550 T ENST00000271069 ENSG00000084636 31940379 ssSNP 31936793 COL16A1 CDS rs2228550 T ENST00000373668 ENSG00000084636 31940379 ssSNP 33605452 PHC2 CDS rs6425816 A G ENSG00000134686 33613725 148 CCT P 33605452 PHC2 CDS rs6425816 A G ENSG00000134686 33613725 148 CCT P 33605452 PHC2 CDS rs6425816 A G ENSG00000134686 33613725 148 CCT P 34435998 C1orf94 CDS rs1414474 C ENST00000373374 ENSG00000142698 34435663 nsSNP 34435998 C1orf94 CDS rs1414474 C ENST00000398041 ENSG00000142698 34415978 nsSNP 36700320 MRPS15 CDS rs60798953:rs7065 ENST00000373116 ENSG00000116898 36702461 C 37 TCA S TCG S C 37 TCA S TCG S C 37 TCA S TCG S C 61 TCA S TCG S C 61 TCA S TCG S C 37 TCA S TCG S G 249 + CTA L CTG L G 249 + CTA L CTG L G * + * * * * A 35 + GGC G AGC S A 35 + GGC G AGC S A 87 GCC A GCT A G 1 AGA R CGA R G 1 AGA R CGA R G 1 AGA R CGA R CCC CCC CCC G 103 P P P + GAC ENST00000419414 ssSNP ENST00000431992 ssSNP ENST00000257118 ssSNP D GAG E G 103 + GAC D GAG E G 31 A CCC P CCT P chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 ssSNP 39521508 MACF1 CDS rs2275188 G A ENSG00000127603 39322478 52 CAG Q 39521508 MACF1 CDS rs2275188 G A ENSG00000127603 NSCF 52 * * * 39521508 MACF1 CDS rs2275188 G A ENSG00000127603 39506957 52 CAG Q 39579197 MACF1 CDS rs3116396 C T ENSG00000127603 39569528 15 TGC C 40753146 DEM1 CDS rs1134586 G A ENSG00000164002 40752804 372 GAC D 40753146 DEM1 CDS rs1134586 G A ENSG00000164002 40752804 372 GAC D 40753146 DEM1 CDS rs1134586 G A ENSG00000164002 40752804 335 GAC D 40753146 DEM1 CDS rs1134586 G A ENSG00000164002 40752804 372 GAC D 40753146 DEM1 CDS rs1134586 G A ENSG00000164002 40752804 329 GAC D 40753146 DEM1 CDS rs1134586 G A ENSG00000164002 40752804 140 GAC D 40753146 DEM1 CDS rs1134586 G A ENSG00000164002 40752804 372 GAC D 40753146 DEM1 CDS rs1134586 G A ENSG00000164002 40752804 372 GAC D 42466184 FOXJ3 CDS rs343376 A G ENSG00000198815 42549349 40 GTG V 42466184 FOXJ3 CDS rs343376 A G ENSG00000198815 42549349 40 GTG V 42466184 FOXJ3 CDS rs343376 A G ENSG00000198815 42549349 40 GTG V 42466184 FOXJ3 CDS rs343376 A G ENSG00000198815 42516927 40 GTG V 42466184 FOXJ3 CDS rs343376 A G ENSG00000198815 42549349 40 GTG V 42671430 ZMYND12 CDS rs1034268 A ENST00000372565 ENSG00000066185 42694253 nsSNP 42671430 ZMYND12 CDS rs1034268 A ENST00000433602 ENSG00000066185 42688267 nsSNP 42905668 PPIH CDS * G A + ENSG00000171960 42896705 30 GGG G 42905668 PPIH CDS * G A + ENSG00000171960 42897603 30 GGG G 42905668 PPIH CDS * G A + ENSG00000171960 42897603 30 GGG G 43448054 WDR65 CDS rs56792091:rs2453412 ENST00000296394 ENSG00000243710 43411012 ssSNP 43857326 PTPRF CDS rs1143701 C T ENSG00000142949 43783334 20 CGC R 43857326 PTPRF CDS rs1143701 C T ENSG00000142949 43783334 20 CGC R 43857326 PTPRF CDS rs1143701 C T ENSG00000142949 43783334 20 CGC R 43857326 PTPRF CDS rs1143701 C T ENSG00000142949 43783334 20 CGC R 43857326 PTPRF CDS rs1143701 C T + CAA + * + CAA + TGT + AAC + AAC + AAC + AAC + AAC + AAC + AAC + AAC GCG GCG GCG GCG GCG G 29 G 29 GGA GGA GGA G 53 + CGT + CGT + CGT + CGT + Q * Q C N N N N N N N N A A A A A TTT ENST00000361689 ssSNP ENST00000317713 * ENST00000372900 ssSNP ENST00000289893 ssSNP ENST00000358527 nsSNP ENST00000372703 nsSNP ENST00000420209 nsSNP ENST00000296380 nsSNP ENST00000418186 nsSNP ENST00000415550 nsSNP ENST00000443729 nsSNP ENST00000419161 nsSNP ENST00000372573 nsSNP ENST00000372572 nsSNP ENST00000361346 nsSNP ENST00000361776 nsSNP ENST00000445886 nsSNP F CTT L F CTT L ENST00000304979 G ssSNP ENST00000372550 G ssSNP ENST00000455203 G ssSNP A + TCG S TCA S TTT R R R R ENST00000359947 ssSNP ENST00000438120 ssSNP ENST00000372414 ssSNP ENST00000372413 ssSNP ENST00000372412 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 ENSG00000142949 43827225 20 CGC R CGT 43857326 PTPRF CDS rs1143701 C T + ENSG00000142949 43830162 20 CGC R CGT 43857326 PTPRF CDS rs1143701 C T + ENSG00000142949 NSCF 20 * * * * 43857326 PTPRF CDS rs1143701 C T + ENSG00000142949 NSCF 20 * * * * 43857326 PTPRF CDS rs1143701 C T + ENSG00000142949 NSCF 20 * * * * 43857326 PTPRF CDS rs1143701 C T + ENSG00000142949 NSCF 20 * * * * 43857326 PTPRF CDS rs1143701 C T + ENSG00000142949 NSCF 20 * * * * 44367634 KLF17 CDS rs11210969 T A + ENSG00000171872 44357167 22 ATC I AAC 46249174 MAST2 CDS rs11211247 T G + ENSG00000086015 46042155 24 GAT D GAG 46249174 MAST2 CDS rs11211247 T G + ENSG00000086015 46244629 24 GAT D GAG 46249174 MAST2 CDS rs11211247 T G + ENSG00000086015 46155638 24 GAT D GAG 48470320 SLC5A9 CDS rs212991 T G ENST00000236495 ENSG00000117834 48460996 90 nsSNP 48470320 SLC5A9 CDS rs212991 T G ENST00000438567 ENSG00000117834 48460996 90 nsSNP 48470320 SLC5A9 CDS rs212991 T G ENST00000420136 ENSG00000117834 48461017 90 nsSNP 50439102 ELAVL4 CDS rs2494876 C T ENST00000371823 ENSG00000162374 50347449 34 nsSNP 50439102 ELAVL4 CDS rs2494876 C T ENST00000371821 ENSG00000162374 50348200 34 nsSNP 54454508 MRPL37 CDS rs13571 G C ENST00000360840 ENSG00000116221 54438505 97 nsSNP 54454508 MRPL37 CDS rs13571 G C ENST00000336230 ENSG00000116221 54438596 97 nsSNP 54454508 MRPL37 CDS rs13571 G C ENST00000329505 ENSG00000116221 54438694 97 nsSNP 54454508 MRPL37 CDS rs13571 G C ENST00000398219 ENSG00000116221 NSCF 97 * * 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000339553 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000414150 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000425300 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000421030 ENSG00000184313 54891188 541 R R * * * * * N E E E + ATT ssSNP ENST00000422171 ssSNP ENST00000412568 * ENST00000429895 * ENST00000414879 * ENST00000372407 * ENST00000422755 * ENST00000372299 nsSNP ENST00000361297 nsSNP ENST00000432341 nsSNP ENST00000372008 nsSNP I ATG M + ATT I ATG M + ATT I ATG M + CCC P TCC S + CCC P TCC S + TGT C TCT S + TGT C TCT S + TGT C TCT S + * * * * G CTG C L + CTC L G CTG C L + CTC L G CTG C L + CTC L G CTG C L + CTC L chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000433509 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000440047 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000395690 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000413188 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000422659 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000438846 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000414867 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000454855 ENSG00000184313 54891188 541 ssSNP 54891877 C1orf175 CDS rs59011092:rs9332417 ENST00000413785 ENSG00000184313 54891188 541 ssSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000339553 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000414150 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000425300 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000421030 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000433509 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000440047 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000395690 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000413188 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000422659 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G ENST00000438846 ENSG00000184313 54891188 284 nsSNP 54892134 C1orf175 CDS rs1655518 A G G CTG C L + CTC L G CTG C L + CTC L G CTG C L + CTC L G CTG C L + CTC L G CTG C L + CTC L G CTG C L + CTC L G CTG C L + CTC L G CTG C L + CTC L G CTG C L + CTC L + GAG E GGG G + GAG E GGG G + GAG E GGG G + GAG E GGG G + GAG E GGG G + GAG E GGG G + GAG E GGG G + GAG E GGG G + GAG E GGG G + GAG E GGG G + chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 ENST00000414867 ENSG00000184313 54891188 nsSNP 54892134 C1orf175 CDS rs1655518 A ENST00000454855 ENSG00000184313 54891188 nsSNP 54892134 C1orf175 CDS rs1655518 A ENST00000413785 ENSG00000184313 54891188 nsSNP 54912329 C1orf175 CDS rs570218 A ENST00000339553 ENSG00000184313 54891188 nsSNP 54912329 C1orf175 CDS rs570218 A ENST00000414150 ENSG00000184313 54891188 ssSNP 54912329 C1orf175 CDS rs570218 A ENST00000425300 ENSG00000184313 54891188 ssSNP 54912329 C1orf175 CDS rs570218 A ENST00000421030 ENSG00000184313 54891188 nsSNP 54912329 C1orf175 CDS rs570218 A ENST00000440047 ENSG00000184313 54891188 nsSNP 54912329 C1orf175 CDS rs570218 A ENST00000409996 ENSG00000184313 54903493 nsSNP 54912329 C1orf175 CDS rs570218 A ENST00000395690 ENSG00000184313 54891188 nsSNP 54912329 C1orf175 CDS rs570218 A ENST00000413188 ENSG00000184313 54891188 ssSNP 54912329 C1orf175 CDS rs570218 A ENST00000422659 ENSG00000184313 54891188 ssSNP 54912329 C1orf175 CDS rs570218 A ENST00000438846 ENSG00000184313 54891188 ssSNP 54912329 C1orf175 CDS rs570218 A ENST00000414867 ENSG00000184313 54891188 nsSNP 54912329 C1orf175 CDS rs570218 A ENST00000454855 ENSG00000184313 54891188 nsSNP 54912329 C1orf175 CDS rs570218 A ENST00000413785 ENSG00000184313 54891188 nsSNP 62102668 INADL CDS rs2799627 T G ENSG00000132849 62001153 170 ATT I 62102668 INADL CDS rs2799627 T G ENSG00000132849 62001153 170 ATT I 62102668 INADL CDS rs2799627 T G ENSG00000132849 62001153 170 ATT I 62102668 INADL CDS rs2799627 T G ENSG00000132849 62001153 170 ATT I 62102668 INADL CDS rs2799627 T G ENSG00000132849 62043782 170 ATT I 62352411 INADL CDS rs1475563 G A ENSG00000132849 62001153 95 GAG E 284 GAG E GGG G G 284 + GAG E GGG G G 284 + GAG E GGG G G 52 + CAC H CGC R G 68 + TCA S TCG S G 68 + TCA S TCG S G 52 + CAC H CGC R G 52 + CAC H CGC R G 52 + CAC H CGC R G 52 + CAC H CGC R G 68 + TCA S TCG S G 68 + TCA S TCG S G 68 + TCA S TCG S G 52 + CAC H CGC R G 52 + CAC H CGC R G 52 + CAC H CGC R + ATG + ATG + ATG + ATG + ATG + GAA M M M M M E ENST00000371158 nsSNP ENST00000316485 nsSNP ENST00000395513 nsSNP ENST00000371156 nsSNP ENST00000255202 nsSNP ENST00000371158 ssSNP chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 62352411 INADL CDS rs1475563 G A + ENSG00000132849 62001153 98 GAG E GAA 62352411 INADL CDS rs1475563 G A + ENSG00000132849 62001153 95 GAG E GAA 62352411 INADL CDS rs1475563 G A + ENSG00000132849 62001153 95 GAG E GAA 62352411 INADL CDS rs1475563 G A + ENSG00000132849 62043782 95 GAG E GAA 64287967 ROR1 CDS rs1772626 C T + ENSG00000185483 64012677 16 CTC L CTT 64287967 ROR1 CDS rs1772626 C T + ENSG00000185483 64012677 16 CTC L CTT 67039344 INSL5 CDS rs549148 T A ENSG00000172410 67039490 26 CAG Q CTG 67567907 IL12RB2 CDS rs1495963 T C ENST00000262345 ENSG00000081985 67558640 49 ssSNP 67567907 IL12RB2 CDS rs1495963 T C ENST00000371000 ENSG00000081985 67558640 49 ssSNP 67567907 IL12RB2 CDS rs1495963 T C ENST00000441640 ENSG00000081985 NSCF 49 * * 67624923 IL12RB2 CDS rs4297265 G A ENST00000262345 ENSG00000081985 67558640 17 ssSNP 67624923 IL12RB2 CDS rs4297265 G A ENST00000371000 ENSG00000081985 67558640 17 ssSNP 71104018 PTGER3 CDS rs5702 G A ENST00000340762 ENSG00000050628 71285846 58 ssSNP 71104018 PTGER3 CDS rs5702 G A ENST00000370934 ENSG00000050628 71285846 58 ssSNP 74944589 CRYZ CDS rs7527057 T A ENSG00000116791 74963091 140 GGA G GGT 74944589 CRYZ CDS rs7527057 T A ENSG00000116791 74961404 140 GGA G GGT 74944589 CRYZ CDS rs7527057 T A ENSG00000116791 74963091 140 GGA G GGT 74944589 CRYZ CDS rs7527057 T A ENSG00000116791 NSCF 140 * * * * 74944589 CRYZ CDS rs7527057 T A ENSG00000116791 74963091 140 GGA G GGT 75489513 SLC44A5 CDS rs60195479:rs588098 ENST00000370859 ENSG00000137968 75779718 30 ssSNP 75489513 SLC44A5 CDS rs60195479:rs588098 ENST00000370855 ENSG00000137968 75779718 30 ssSNP 84885791 SSX2IP CDS rs2994949 T C ENST00000342203 ENSG00000117155 84909488 87 ssSNP 84885791 SSX2IP CDS rs2994949 T C ENST00000437941 ENSG00000117155 84909488 87 ssSNP 86672920 CLCA2 CDS rs17449526 T C + ENSG00000137975 86662519 96 AAT N AAC E E E E L L L + TCT ENST00000316485 ssSNP ENST00000395513 ssSNP ENST00000371156 ssSNP ENST00000255202 ssSNP ENST00000371080 ssSNP ENST00000371079 ssSNP ENST00000304526 nsSNP S TCC S + TCT S TCC S + * * * * + ACG T ACA T + ACG T ACA T CCC P CCT P CCC P CCT P G C GTG ENST00000340866 ssSNP ENST00000370872 ssSNP ENST00000417775 ssSNP ENST00000395054 * ENST00000370871 ssSNP T V GTA V C GTG T V GTA V GCA A GCG A GCA A GCG A N ENST00000370565 ssSNP G G G * chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 92933490 EVI5 CDS rs2391199 T C ENSG00000067208 93030537 35 ATT I GTT 93392981 TMED5 CDS rs1060622 G A ENSG00000117500 93418385 52 ACT T ATT 93392981 TMED5 CDS rs1060622 G A ENSG00000117500 93418385 52 AAC N AAT 94243663 ABCA4 CDS rs1762114 A G ENSG00000198691 94359187 63 ATT I ATC 94412035 ARHGAP29 CDS rs61713536:rs1999272 ENST00000260526 ENSG00000137962 94469753 858 nsSNP 98998215 SNX7 CDS rs2019213 G A + ENSG00000162627 98899876 17 GAG E GAA 98998215 SNX7 CDS rs2019213 G A + ENSG00000162627 98923041 17 GAG E GAA 98998215 SNX7 CDS rs2019213 G A + ENSG00000162627 98923041 17 GAG E GAA 98998215 SNX7 CDS rs2019213 G A + ENSG00000162627 98923041 17 GAG E GAA 98998215 SNX7 CDS rs2019213 G A + ENSG00000162627 98923041 17 GAG E GAA 99976236 FRRS1 CDS rs7537296 C T ENSG00000156869 99986910 6 CAG Q CAA 99976236 FRRS1 CDS rs7537296 C T ENSG00000156869 99986910 6 CAG Q CAA 99976236 FRRS1 CDS rs7537296 C T ENSG00000156869 99986910 6 CAG Q CAA 99976281 FRRS1 CDS rs7514021 G A ENSG00000156869 99986910 51 AGC S AGT 99976281 FRRS1 CDS rs7514021 G A ENSG00000156869 99986910 51 AGC S AGT 99976281 FRRS1 CDS rs7514021 G A ENSG00000156869 99986910 51 AGC S AGT 109196628 C1orf62 CDS rs1277207 C T ENST00000370001 ENSG00000162641 109196807 284 nsSNP 109196628 C1orf62 CDS rs1277207 C T ENST00000370000 ENSG00000162641 109196807 284 nsSNP 109196628 C1orf62 CDS rs1277207 C T ENST00000369995 ENSG00000162641 109196807 284 nsSNP 109196628 C1orf62 CDS rs1277207 C T ENST00000369994 ENSG00000162641 109196807 234 nsSNP 109196628 C1orf62 CDS rs1277207 C T ENST00000357393 ENSG00000162641 109196807 284 nsSNP 109596549 CELSR2 CDS rs60946126:rs413380 ENST00000271332 ENSG00000143126 109594225 985 ssSNP 111585519 CHI3L2 CDS rs2494007 A G ENST00000369748 ENSG00000064886 111571875 47 ssSNP 111585519 CHI3L2 CDS rs2494007 A G ENST00000369744 ENSG00000064886 111571875 47 ssSNP 111585519 CHI3L2 CDS rs2494007 A G ENST00000419203 ENSG00000064886 111575054 47 V I N I C GGT E E E E E Q Q Q S S S AGT ENST00000370331 nsSNP ENST00000370282 nsSNP ENST00000479918 ssSNP ENST00000370225 ssSNP T G GAT D ENST00000306121 ssSNP ENST00000439833 ssSNP ENST00000351590 ssSNP ENST00000415097 ssSNP ENST00000370189 ssSNP ENST00000414213 ssSNP ENST00000287474 ssSNP ENST00000370176 ssSNP ENST00000414213 ssSNP ENST00000287474 ssSNP ENST00000370176 ssSNP S AAT N AGT S AAT N AGT S AAT N AGT S AAT N AGT S AAT N T TAT C Y + TAC Y + CAA Q CAG Q + CAA Q CAG Q + CAA Q CAG Q chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 ssSNP 111585519 CHI3L2 CDS rs2494007 A G ENST00000393553 ENSG00000064886 111575054 47 ssSNP 111844155 ADORA3 CDS rs2229155 A G ENST00000241356 ENSG00000121933 111847497 546 ssSNP 112800750 CTTNBP2NL CDS rs1175641 G A ENST00000271277 ENSG00000143079 112760311 674 ssSNP 113258069 SLC16A1 CDS rs60325966:rs1049434 ENST00000369626 ENSG00000155380 113273451 241 nsSNP 114749804 TRIM33 CDS rs6537825 A G ENST00000358465 ENSG00000197323 114855218 100 nsSNP 114749804 TRIM33 CDS rs6537825 A G ENST00000450349 ENSG00000197323 114772016 100 nsSNP 114749804 TRIM33 CDS rs6537825 A G ENST00000369543 ENSG00000197323 114855218 100 nsSNP 114749804 TRIM33 CDS rs6537825 A G ENST00000448034 ENSG00000197323 NSCF 100 * * 117361249 IGSF2 CDS rs57253605:rs2249265 A ENST00000256652 ENSG00000134256 117345963 14 nsSNP 117361249 IGSF2 CDS rs57253605:rs2249265 A ENST00000437666 ENSG00000134256 117345963 14 nsSNP 117361249 IGSF2 CDS rs57253605:rs2249265 A ENST00000369470 ENSG00000134256 117345963 14 nsSNP 143623510 PDE4DIP CDS rs1628172 A G ENST00000313382 ENSG00000178104 143750964 23 nsSNP 143623510 PDE4DIP CDS rs1628172 A G ENST00000369356 ENSG00000178104 143706086 23 nsSNP 143623510 PDE4DIP CDS rs1628172 A G ENST00000369354 ENSG00000178104 143706086 23 nsSNP 143623510 PDE4DIP CDS rs1628172 A G ENST00000369353 ENSG00000178104 143643063 23 nsSNP 143623510 PDE4DIP CDS rs1628172 A G ENST00000369351 ENSG00000178104 143706086 23 nsSNP 143623510 PDE4DIP CDS rs1628172 A G ENST00000369349 ENSG00000178104 143706086 23 nsSNP 143623510 PDE4DIP CDS rs1628172 A G ENST00000313431 ENSG00000178104 143643063 23 nsSNP 144243906 ITGA10 CDS rs1328584 T C ENST00000369304 ENSG00000143127 144236423 73 ssSNP 145585897 ACP6 CDS rs1344 G A - + CAA Q CAG Q GCT A GCC A + CAG Q CAA Q A GAT T D GAA E ATT I ACT T ATT I ACT T ATT I ACT T * * * * G ATG + M GTG V G ATG + M GTG V G ATG + M GTG V TGT C CGT R TGT C CGT R TGT C CGT R TGT C CGT R TGT C CGT R TGT C CGT R TGT C CGT R + TTT F TTC F ENST00000369238 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 ENSG00000162836 145608792 95 CAC H CAT 145590934 ACP6 CDS rs2153463 T G ENSG00000162836 145608792 42 AGG R CGG 146476077 NBPF14 CDS rs6143414:rs10704875 ENST00000310701 ENSG00000122497 NSCF 63 * * 146476077 NBPF14 CDS rs6143414:rs10704875 ENST00000369219 ENSG00000122497 146492453 63 ssSNP 150346613 TCHH CDS rs1131471 T G ENSG00000159450 150353178 1196 AAA K CAA 150459255 HRNR CDS rs6587647 C T ENSG00000197915 150462351 1335 GGA G AGA 150459311 HRNR CDS rs6587648 T C ENSG00000197915 150462351 1279 GAG E GGG 150459676 HRNR CDS rs6587650 A G ENSG00000197915 150462351 914 CAT H CAC 151211218 SPRR4 CDS rs3170863 C T + ENSG00000184148 151210991 247 AGC S AGT 154104891 SYT11 CDS rs822521 T C + ENSG00000132718 154096177 315 CAT H CAC 155780721 FCRL5 CDS rs6679793 A G ENSG00000143297 155788774 45 TAC Y CAC 155780721 FCRL5 CDS rs6679793 A G ENSG00000143297 155788774 45 TAC Y CAC 155780721 FCRL5 CDS rs6679793 A G ENSG00000143297 155788774 45 TAC Y CAC 155780721 FCRL5 CDS rs6679793 A G ENSG00000143297 155788774 45 TAC Y CAC 156816135 OR10X1 CDS rs863363 A G ENST00000334579 ENSG00000186400 156816260 127 nsSNP 156816135 OR10X1 CDS rs863363 A G ENST00000368150 ENSG00000186400 156816311 178 nsSNP 156849270 SPTA1 CDS rs2251969 T C ENSG00000163554 156922929 39 GCA A GCG 156849270 SPTA1 CDS rs2251969 T C ENSG00000163554 156922929 39 GCA A GCG 156953787 OR6K3 CDS rs28568406 G A ENSG00000203757 156954527 205 CCG P CTG 156953787 OR6K3 CDS rs28568406 G A ENSG00000203757 156954575 205 CCG P CTG 156953848 OR6K3 CDS rs857703 G A ENSG00000203757 156954527 266 CCC P TCC 156953848 OR6K3 CDS rs857703 G A ENSG00000203757 156954575 266 CCC P TCC 157002219 OR6N1 CDS rs857824 C T ENSG00000197403 157003094 61 CGC R CAC 157002839 OR6N1 CDS rs6666753 G A ENSG00000197403 157003094 257 CTC L CTT 157253101 IFI16 CDS rs866484 G C + ENSG00000163565 157251095 13 AGT S ACT 157253101 IFI16 CDS rs866484 G C + ENSG00000163565 157251095 5 AGT S ACT 157253101 IFI16 CDS rs866484 G C + ENSG00000163565 157251095 13 AGT S ACT 157253101 IFI16 CDS rs866484 G C + ENSG00000163565 157251095 13 AGT S ACT H R G * ssSNP ENST00000369238 ssSNP A * * * G TGC A C Q R G H S H H H H H ATC ATC A A L L S S H L T T T T TGT C ENST00000368804 nsSNP ENST00000368801 nsSNP ENST00000368801 nsSNP ENST00000368801 ssSNP ENST00000328051 ssSNP ENST00000368324 ssSNP ENST00000361835 nsSNP ENST00000356953 nsSNP ENST00000368190 nsSNP ENST00000368189 nsSNP I ACC T I ACC T ENST00000368148 ssSNP ENST00000368147 ssSNP ENST00000368145 nsSNP ENST00000368146 nsSNP ENST00000368145 nsSNP ENST00000368146 nsSNP ENST00000335094 nsSNP ENST00000335094 ssSNP ENST00000359709 nsSNP ENST00000447473 nsSNP ENST00000368131 nsSNP ENST00000368132 nsSNP chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 157253101 IFI16 CDS rs866484 G C ENSG00000163565 157251095 13 AGT S 157253101 IFI16 CDS rs866484 G C ENSG00000163565 157251095 13 AGT S 157676358 OR10J8P CDS rs10908722 G ENST00000328408 ENSG00000196184 157587507 nsSNP 157676358 OR10J8P CDS rs10908722 G ENST00000442100 ENSG00000196184 157668618 nsSNP 157676358 OR10J8P CDS rs10908722 G ENST00000423932 ENSG00000196184 157676173 nsSNP 158661561 VANGL2 CDS rs17380127 A ENST00000368061 ENSG00000162738 158652252 ssSNP 160027900 ATF6 CDS rs2070150 G C ENSG00000118217 160002775 51 GCG A 163439840 LMX1A CDS rs1354509 A G ENSG00000162761 163591418 61 GAT D 163439840 LMX1A CDS rs1354509 A G ENSG00000162761 163441864 61 GAT D 163439840 LMX1A CDS rs1354509 A G ENSG00000162761 163441864 61 GAT D 163439840 LMX1A CDS rs1354509 A G ENSG00000162761 163591418 61 GAT D 163439840 LMX1A CDS rs1354509 A G ENSG00000162761 163591418 61 GAT D 163644176 RXRG CDS rs2134095 G A ENSG00000143171 163680752 3 GTC V 167765599 F5 CDS rs6030 T C ENSG00000198734 167822246 81 ATG M 167765599 F5 CDS rs6030 T C ENSG00000198734 167822246 81 ATG M 170825147 C1orf9 CDS rs41264546 A ENST00000367723 ENSG00000094975 170768236 ssSNP 170825147 C1orf9 CDS rs41264546 A ENST00000392073 ENSG00000094975 170768236 ssSNP 170825147 C1orf9 CDS rs41264546 A ENST00000263688 ENSG00000094975 170769199 ssSNP 173359297 TNN CDS rs2285215 C T ENSG00000120332 173313178 125 CCG P 177787129 NPHS2 CDS rs1410592 G A ENSG00000116218 177811620 80 GCC A 177787129 NPHS2 CDS rs1410592 G A ENSG00000116218 177811620 80 GCC A 180635856 TEDDM1 CDS rs6674281 A ENST00000367565 ENSG00000203730 180636241 nsSNP 180836249 RGS16 CDS rs1144566 T C ENSG00000143333 180840015 22 CAC H 181360498 LAMC1 CDS rs20557 T C ENSG00000135862 181259475 109 AAT N 181883889 APOBEC4 CDS rs17436878 C ENST00000308641 ENSG00000173627 181884537 ssSNP + ACT + ACT T 152 T T + ATG ENST00000340979 nsSNP ENST00000295809 nsSNP M ATT I T 144 + ATG M ATT I T 185 + ATG M ATT I C 29 + GGA G GGC G + CCG GAC GAC GAC GAC GAC GTT GTG GTG G 542 P D D D D D V V V + CCA ENST00000367942 nsSNP ENST00000342310 ssSNP ENST00000392137 ssSNP ENST00000448252 ssSNP ENST00000294816 ssSNP ENST00000367893 ssSNP ENST00000359842 ssSNP ENST00000367797 nsSNP ENST00000367796 nsSNP P CCG P G 542 + CCA P CCG P G 542 + CCA P CCG P + CTG GCT GCT G 518 CGC + AAC G 680 L A A TAT R N GGG ENST00000239462 nsSNP ENST00000367615 ssSNP ENST00000367616 ssSNP Y CAT H ENST00000367558 nsSNP ENST00000258341 ssSNP G GGC G chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 182942437 EDEM3 CDS rs1062994 G A ENSG00000116406 NSCF 37 * * * 182942437 EDEM3 CDS rs1062994 G A ENSG00000116406 182990401 37 AAC N 182942437 EDEM3 CDS rs1062994 G A ENSG00000116406 182990272 37 AAC N 185213535 PLA2G4A CDS rs2307198 G ENST00000442353 ENSG00000116711 185090110 nsSNP 185213535 PLA2G4A CDS rs2307198 G ENST00000367466 ENSG00000116711 185090110 nsSNP 199313734 CACNA1S CDS rs9427714 A ENST00000362061 ENSG00000081248 199348088 ssSNP 199313734 CACNA1S CDS rs9427714 A ENST00000367338 ENSG00000081248 199348088 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000367334 ENSG00000116857 199389672 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000367332 ENSG00000116857 199389672 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000367330 ENSG00000116857 199389672 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000367329 ENSG00000116857 199389672 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000367333 ENSG00000116857 199389672 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000263947 ENSG00000116857 199389672 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000421960 ENSG00000116857 199389672 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000455367 ENSG00000116857 199389672 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000435310 ENSG00000116857 199389672 ssSNP 199379604 TMEM9 CDS rs59741734:rs8158 A ENST00000367327 ENSG00000116857 199389672 ssSNP 199454387 IGFN1 CDS rs10920144 T C ENSG00000163395 199429045 22 GCT A 199454387 IGFN1 CDS rs10920144 T C ENSG00000163395 NSCF 22 * * * 199454387 IGFN1 CDS rs10920144 T C ENSG00000163395 199449165 22 GCT A 199454387 IGFN1 CDS rs10920144 T C ENSG00000163395 199449165 22 GCT A 199552382 PKP1 CDS rs1779297 A G ENSG00000081277 199519454 66 AAA K 199552382 PKP1 CDS rs1779297 A G * AAT AAT A 8 * N N + AGG ENST00000439962 * ENST00000318130 ssSNP ENST00000367512 ssSNP R AAG K A 8 + AGG R AAG K G 104 TGT C TGC C G 104 TGT C TGC C G 33 TAT Y TAC Y G 33 TAT Y TAC Y G 33 TAT Y TAC Y G 33 TAT Y TAC Y G 33 TAT Y TAC Y G 33 TAT Y TAC Y G 33 TAT Y TAC Y G 33 TAT Y TAC Y G 33 TAT Y TAC Y G 33 TAT Y TAC Y + GCC + * + GCC + GCC + AAG + A * A A K ENST00000451870 ssSNP ENST00000412892 * ENST00000335211 ssSNP ENST00000295591 ssSNP ENST00000367324 ssSNP ENST00000263946 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 ENSG00000081277 199519454 66 AAA K AAG 199552382 PKP1 CDS rs1779297 A G + ENSG00000081277 199519454 66 AAA K AAG 200127249 SHISA4 CDS rs2250377 A G ENST00000362011 ENSG00000198892 200124746 70 nsSNP 200235705 RNPEP CDS rs1130790 G A + ENSG00000176393 200218418 52 CAG Q CAA 200235705 RNPEP CDS rs1130790 G A + ENSG00000176393 200218418 52 CAG Q CAA 200235705 RNPEP CDS rs1130790 G A + ENSG00000176393 200219214 52 CAG Q CAA 201919067 ATP2B4 CDS rs1419114 A G ENST00000357681 ENSG00000058668 201918957 82 ssSNP 201919067 ATP2B4 CDS rs1419114 A G ENST00000391954 ENSG00000058668 201918957 82 ssSNP 201919067 ATP2B4 CDS rs1419114 A G ENST00000367219 ENSG00000058668 201918957 82 ssSNP 201919067 ATP2B4 CDS rs1419114 A G ENST00000367218 ENSG00000058668 201918957 82 ssSNP 201919067 ATP2B4 CDS rs1419114 A G ENST00000341360 ENSG00000058668 201918957 82 ssSNP 202705266 PIK3C2B CDS rs1553921 G T ENST00000367187 ENSG00000133056 202705551 371 ssSNP 202705266 PIK3C2B CDS rs1553921 G T ENST00000424712 ENSG00000133056 202705551 371 ssSNP 202705266 PIK3C2B CDS rs1553921 G T ENST00000415899 ENSG00000133056 202705551 105 ssSNP 203542044 NUAK2 CDS rs4951197 A G ENSG00000163545 203557377 14 GGT G GGC 203542044 NUAK2 CDS rs4951197 A G ENSG00000163545 203557509 14 GGT G GGC 207848966 CAMK1G CDS rs56761532:rs11119314 ENST00000009105 ENSG00000008118 207834952 18 ssSNP 207848966 CAMK1G CDS rs56761532:rs11119314 ENST00000361322 ENSG00000008118 207834952 18 ssSNP 207848966 CAMK1G CDS rs56761532:rs11119314 ENST00000423146 ENSG00000008118 207834952 18 nsSNP 208017383 TRAF3IP3 CDS rs669694 C G ENST00000400959 ENSG00000009790 208000008 63 nsSNP 208017383 TRAF3IP3 CDS rs669694 C G ENST00000367025 ENSG00000009790 208000008 63 nsSNP 208017383 TRAF3IP3 CDS rs669694 C G ENST00000341173 ENSG00000009790 208015335 63 nsSNP 208017383 TRAF3IP3 CDS rs669694 C G K K + ATA Q Q Q + TCA ssSNP ENST00000352845 ssSNP I ATG M ENST00000295640 ssSNP ENST00000367286 ssSNP ENST00000447312 ssSNP S TCG S + TCA S TCG S + TCA S TCG S + TCA S TCG S + TCA S TCG S CTC L CTA L CTC L CTA L CTC L CTA L G A CCA ENST00000367157 ssSNP ENST00000441520 ssSNP G + P CCG P A CCA G P + CCG P A CAT G H + CGT R + CAA Q GAA E + CAA Q GAA E + CAA Q GAA E G + chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 ENST00000456166 ENSG00000009790 208017344 nsSNP 208017383 TRAF3IP3 CDS rs669694 C ENST00000367026 ENSG00000009790 208000008 nsSNP 208017383 TRAF3IP3 CDS rs669694 C ENST00000367024 ENSG00000009790 208000008 nsSNP 208017383 TRAF3IP3 CDS rs669694 C ENST00000010338 ENSG00000009790 208000008 nsSNP 208017383 TRAF3IP3 CDS rs669694 C ENST00000367023 ENSG00000009790 208015335 nsSNP 208017383 TRAF3IP3 CDS rs669694 C ENST00000477431 ENSG00000009790 208015335 nsSNP 208644496 HHAT CDS rs2066721 G C ENSG00000054392 208588943 65 CTG L 208644496 HHAT CDS rs2066721 G C ENSG00000054392 208588943 65 CTG L 208644496 HHAT CDS rs2066721 G C ENSG00000054392 208588943 65 CTG L 208644496 HHAT CDS rs2066721 G C ENSG00000054392 208588943 65 CTG L 208644496 HHAT CDS rs2066721 G C ENSG00000054392 208588943 65 CTG L 208644496 HHAT CDS rs2066721 G C ENSG00000054392 208627465 65 CTG L 210340262 DTL CDS rs3135474 C T ENSG00000143476 210275856 45 GCA A 210340262 DTL CDS rs3135474 C T ENSG00000143476 210275856 45 GCA A 210341036 DTL CDS rs6540718 A C ENSG00000143476 210275856 13 AAA K 210341036 DTL CDS rs6540718 A C ENSG00000143476 210275856 13 AAA K 210978459 NSL1 CDS rs15702 T C ENSG00000117697 211031726 192 ATG M 210978459 NSL1 CDS rs15702 T C ENSG00000117697 211031726 192 ATG M 212558909 SMYD2 CDS rs1134647 G A ENSG00000143499 212521221 40 GGA G 213915210 USH2A CDS rs2797234 T C ENSG00000042781 214662299 371 ACA T 213915210 USH2A CDS rs2797234 T C ENSG00000042781 214662299 371 ACA T 213915264 USH2A CDS rs2797235 T C ENSG00000042781 214662299 317 ACA T 213915264 USH2A CDS rs2797235 T C ENSG00000042781 214662299 317 ACA T 220900224 MIA3 CDS rs3002153 T C ENSG00000154305 220858076 55 CCT P 220900224 MIA3 CDS rs3002153 T C ENSG00000154305 220858076 55 CCT P 220900224 MIA3 CDS rs3002153 T C ENSG00000154305 220884441 55 CCT P 221350533 TLR5 CDS rs7512943 A G ENSG00000187554 221352994 326 TTC F 63 CAA Q GAA E G 63 + CAA Q GAA E G 63 + CAA Q GAA E G 63 + CAA Q GAA E G 63 + CAA Q GAA E G 63 + CAA Q GAA E + CTC + CTC + CTC + CTC + CTC + CTC + GTA + GTA + ACA + ACA GTG GTG + GAA ACG ACG ACG ACG + CCC + CCC + CCC CTC L L L L L L V V T T V V E T T T T P P P L ENST00000413764 ssSNP ENST00000391905 ssSNP ENST00000308852 ssSNP ENST00000261458 ssSNP ENST00000367010 ssSNP ENST00000426968 ssSNP ENST00000366991 nsSNP ENST00000420235 nsSNP ENST00000366991 nsSNP ENST00000420235 nsSNP ENST00000366977 nsSNP ENST00000422588 nsSNP ENST00000366957 nsSNP ENST00000307340 ssSNP ENST00000366943 ssSNP ENST00000307340 ssSNP ENST00000366943 ssSNP ENST00000344922 ssSNP ENST00000344441 ssSNP ENST00000340535 ssSNP ENST00000342210 nsSNP chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 221350533 TLR5 CDS rs7512943 A G ENSG00000187554 221352994 263 TTC F CTC 222562475 NVL CDS rs7534447:rs61729123 C ENST00000281701 ENSG00000143748 222584450 113 ssSNP 222562475 NVL CDS rs7534447:rs61729123 C ENST00000391875 ENSG00000143748 222566146 113 ssSNP 222562475 NVL CDS rs7534447:rs61729123 C ENST00000361463 ENSG00000143748 222566146 113 ssSNP 222562475 NVL CDS rs7534447:rs61729123 C ENST00000467882 ENSG00000143748 222584450 113 ssSNP 222562475 NVL CDS rs7534447:rs61729123 C ENST00000492281 ENSG00000143748 222584450 113 ssSNP 222562475 NVL CDS rs7534447:rs61729123 C ENST00000436927 ENSG00000143748 222567432 67 ssSNP 225249198 CDC42BPA CDS rs1045247 A G ENST00000366769 ENSG00000143776 225571504 51 ssSNP 225249198 CDC42BPA CDS rs1045247 A G ENST00000366767 ENSG00000143776 225571504 51 ssSNP 225249198 CDC42BPA CDS rs1045247 A G ENST00000448940 ENSG00000143776 NSCF 51 * * 225249198 CDC42BPA CDS rs1045247 A G ENST00000366764 ENSG00000143776 225571504 51 ssSNP 225249198 CDC42BPA CDS rs1045247 A G ENST00000366766 ENSG00000143776 225571504 51 ssSNP 225249198 CDC42BPA CDS rs1045247 A G ENST00000334218 ENSG00000143776 225571504 51 ssSNP 225249198 CDC42BPA CDS rs1045247 A G ENST00000442054 ENSG00000143776 NSCF 51 * * 225249198 CDC42BPA CDS rs1045247 A G ENST00000366765 ENSG00000143776 225571504 51 ssSNP 226679461 HIST3H3 CDS rs2230656 G T ENST00000366696 ENSG00000168148 226679647 188 ssSNP 230717373 SIPA1L2 CDS rs3795366 A G ENST00000366630 ENSG00000116991 230717706 604 ssSNP 230717373 SIPA1L2 CDS rs3795366 A G ENST00000262861 ENSG00000116991 230717706 562 ssSNP 230717490 SIPA1L2 CDS rs59574149:rs4649383 ENST00000366630 ENSG00000116991 230717706 487 ssSNP 230717490 SIPA1L2 CDS rs59574149:rs4649383 ENST00000262861 ENSG00000116991 230717706 445 ssSNP L T CGG ENST00000366881 nsSNP R CGA R T CGG R CGA R T CGG R CGA R T CGG R CGA R T CGG R CGA R T CGG R CGA R TCT S TCC S TCT S TCC S * * * * TCT S TCC S TCT S TCC S TCT S TCC S * * * * TCT S TCC S ATC I ATA I TCT S TCC S TCT S TCC S C AAG T K AAA K C AAG T K AAA K chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr1 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 234241962 NID1 CDS rs57523874:rs2031487 ENST00000264187 ENSG00000116962 234295000 ssSNP 234788354 HEATR1 CDS rs819431 T ENST00000366582 ENSG00000119285 234834016 ssSNP 234788354 HEATR1 CDS rs819431 T ENST00000366581 ENSG00000119285 234834016 ssSNP 245386881 ZNF124 CDS rs41304032 A ENST00000366499 ENSG00000196418 245387427 ssSNP 245386881 ZNF124 CDS rs41304032 A ENST00000340684 ENSG00000196418 245401800 ssSNP 245987975 OR1C1 CDS rs1552813 C T ENSG00000221888 245988329 356 GCG A 246126046 OR2W3 CDS rs10888267 C T ENSG00000238243 246125512 476 CGT R 246433325 OR2M3 CDS rs4916112 G A ENSG00000228198 246432993 370 GAG E 246524602 OR2T12 CDS rs6667171 C ENST00000317996 ENSG00000177201 246525501 nsSNP 246554391 OR2M7 CDS rs7555424 A G ENSG00000177186 246554491 102 TTT F 246579260 OR14C36 CDS rs2039824 C ENST00000317861 ENSG00000177174 246578700 ssSNP 246911720 OR14I1 CDS rs2000390 C ENST00000342623 ENSG00000189181 246912226 nsSNP 246912122 OR14I1 CDS rs4462184 A ENST00000342623 ENSG00000189181 246912226 nsSNP 9408468 ASAP2 CDS rs60877276:rs4669385 ENST00000315273 ENSG00000151693 9264685 ssSNP 9408468 ASAP2 CDS rs60877276:rs4669385 ENST00000281419 ENSG00000151693 9264685 ssSNP 10848354 PDIA6 CDS rs4807 T C ENSG00000143870 10870271 56 AAA K 10848354 PDIA6 CDS rs4807 T C ENSG00000143870 10876882 56 AAA K 10848354 PDIA6 CDS rs4807 T C ENSG00000143870 10878439 56 AAA K 10848354 PDIA6 CDS rs4807 T C ENSG00000143870 10876882 56 AAA K 17975954 KCNS3 CDS rs4240213 G A ENSG00000170745 17975757 256 GAG E 17975954 KCNS3 CDS rs4240213 G A ENSG00000170745 17975757 256 GAG E 17975954 KCNS3 CDS rs4240213 G A ENSG00000170745 17975757 25 GAG E 17977104 KCNS3 CDS rs4832524 A G ENSG00000170745 17975757 598 ACC T 17977104 KCNS3 CDS rs4832524 A G ENSG00000170745 17975757 605 ACC T T 4 C GTA V GTG V C 98 GCA A GCG A C 98 GCA A GCG A G 1010 CAT H CAC H G 261 CAT H CAC H GCA + TGT + GAA A 61 A C E CGG CTT T 378 L + TGC T 427 ENST00000408896 ssSNP ENST00000360358 nsSNP ENST00000456743 ssSNP R CTG L ENST00000317965 nsSNP C TGT C AGT S AAT N G 106 GTG V GCG A C 7 T CTC + L CTT L C 7 T CTC + L CTT L AGA AGA AGA AGA + GAA + GAA + GAA + GCC + GCC R R R R E E E A A ENST00000272227 nsSNP ENST00000404371 nsSNP ENST00000381611 nsSNP ENST00000404824 nsSNP ENST00000403915 ssSNP ENST00000304101 ssSNP ENST00000419802 ssSNP ENST00000403915 nsSNP ENST00000304101 nsSNP chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 24783355 NCOA1 CDS rs3731628 A T ENSG00000084676 24735051 414 CCA P 24783355 NCOA1 CDS rs3731628 A T ENSG00000084676 24735051 414 CCA P 24783355 NCOA1 CDS rs3731628 A T ENSG00000084676 24759423 414 CCA P 24783355 NCOA1 CDS rs3731628 A T ENSG00000084676 24735051 414 CCA P 24783355 NCOA1 CDS rs3731628 A T ENSG00000084676 24735051 414 CCA P 24783355 NCOA1 CDS rs3731628 A T ENSG00000084676 24735051 414 CCA P 27205452 ABHD1 CDS rs6715286 T G ENSG00000143994 27200321 47 GAT D 27205452 ABHD1 CDS rs6715286 T G ENSG00000143994 27200321 47 GAT D 27205452 ABHD1 CDS rs6715286 T G ENSG00000143994 27200321 47 GAT D 27205452 ABHD1 CDS rs6715286 T G ENSG00000143994 27200349 47 GAT D 27205452 ABHD1 CDS rs6715286 T G ENSG00000143994 27200349 47 GAT D 27294289 CAD CDS rs1275536 C T ENSG00000084774 27293924 40 ACC T 27294289 CAD CDS rs1275536 C T ENSG00000084774 27293924 40 ACC T 27294289 CAD CDS rs1275536 C T ENSG00000084774 27293924 40 ACC T 28946354 TRMT61B CDS rs4666122 G ENST00000306108 ENSG00000171103 28946645 ssSNP 28946354 TRMT61B CDS rs4666122 G ENST00000439947 ENSG00000171103 28946645 ssSNP 29308771 ALK CDS rs2256740:rs55952420 ENST00000389048 ENSG00000171094 29997027 ssSNP 29308771 ALK CDS rs2256740:rs55952420 ENST00000415678 ENSG00000171094 NSCF 47 * 29397167 ALK CDS rs2293564 T C ENSG00000171094 29997027 46 CAA Q 29397167 ALK CDS rs2293564 T C ENSG00000171094 NSCF 46 * * * 32329894 NLRC4 CDS rs408813 T G ENSG00000091106 32335348 280 CGA R 32329894 NLRC4 CDS rs408813 T G ENSG00000091106 32335348 280 CGA R 32329894 NLRC4 CDS rs408813 T G ENSG00000091106 32335348 280 CGA R 33300706 LTBP1 CDS rs2290448 C T ENSG00000049323 33025896 16 AAC N 33300706 LTBP1 CDS rs2290448 C T ENSG00000049323 33025896 16 AAC N 33300706 LTBP1 CDS rs2290448 C T ENSG00000049323 33025896 16 AAC N 33300706 LTBP1 CDS rs2290448 C T ENSG00000049323 33025896 16 AAC N 33300706 LTBP1 CDS rs2290448 C T + CCT + CCT + CCT + CCT + CCT + CCT + GAG + GAG + GAG + GAG + GAG + ACT + ACT + ACT T 317 P P P P P P E E E E E T T T TCC ENST00000406961 ssSNP ENST00000405141 ssSNP ENST00000407230 ssSNP ENST00000288599 ssSNP ENST00000348332 ssSNP ENST00000395856 ssSNP ENST00000432813 nsSNP ENST00000448950 nsSNP ENST00000316470 nsSNP ENST00000420647 nsSNP ENST00000416071 nsSNP ENST00000264705 ssSNP ENST00000403525 ssSNP ENST00000457605 ssSNP S TCA S T 311 TCC S TCA S A 47 G GGT G GGC G A * G * * * * CAG * CGC CGC CGC + AAT + AAT + AAT + AAT + Q * R R R N N N N ENST00000389048 ssSNP ENST00000415678 * ENST00000360906 ssSNP ENST00000402280 ssSNP ENST00000404025 ssSNP ENST00000404816 ssSNP ENST00000272273 ssSNP ENST00000354476 ssSNP ENST00000407024 ssSNP ENST00000390003 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 ENSG00000049323 33213309 16 AAC N 33300706 LTBP1 CDS rs2290448 C T ENSG00000049323 33213309 16 AAC N 33300706 LTBP1 CDS rs2290448 C T ENSG00000049323 33213309 16 AAC N 33300706 LTBP1 CDS rs2290448 C T ENSG00000049323 33213309 16 AAC N 36557648 CRIM1 CDS rs848547 C T ENSG00000150938 36436940 70 ACC T 37094554 HEATR5B CDS rs17020125 G ENST00000233099 ENSG00000008869 37164059 ssSNP 37094554 HEATR5B CDS rs17020125 G ENST00000354531 ENSG00000008869 37164059 ssSNP 38941827 DHX57 CDS rs11893062 G A ENSG00000163214 38949049 182 TCT S 38941827 DHX57 CDS rs11893062 G A ENSG00000163214 38944081 182 TCT S 38941827 DHX57 CDS rs11893062 G A ENSG00000163214 38949049 182 TCT S 38941827 DHX57 CDS rs11893062 G A ENSG00000163214 38944081 182 TCT S 42869223 HAAO CDS rs3816183 T C ENSG00000162882 42873178 28 ATC I 42869223 HAAO CDS rs3816183 T C ENSG00000162882 42869227 28 ATC I 42869223 HAAO CDS rs3816183 T C ENSG00000162882 42873178 28 ATC I 48752302 STON1-GTF2A1L CDS rs3920390 ENST00000402114 ENSG00000068781 48661277 ssSNP 48752302 STON1-GTF2A1L CDS rs3920390 ENST00000405008 ENSG00000068781 48661277 ssSNP 48752302 STON1-GTF2A1L CDS rs3920390 ENST00000394754 ENSG00000068781 48661277 ssSNP 48752302 STON1-GTF2A1L CDS rs3920390 ENST00000411619 ENSG00000068781 48661277 ssSNP 48752302 STON1-GTF2A1L CDS rs3920390 ENST00000309827 ENSG00000068781 48661277 ssSNP 48752302 GTF2A1L CDS rs3920390 T ENST00000394751 ENSG00000242441 48698518 ssSNP 48752302 GTF2A1L CDS rs3920390 T ENST00000403751 ENSG00000242441 48698518 ssSNP 48752302 GTF2A1L CDS rs3920390 T ENST00000430487 ENSG00000242441 48698518 ssSNP 48752302 GTF2A1L CDS rs3920390 T ENST00000394749 ENSG00000242441 NSCF 21 * 55261258 C2orf63 CDS rs6716066 C ENST00000443984 ENSG00000162994 55293443 nsSNP AAT + AAT + AAT + AAT + ACT A 66 N A 66 TCC TTT TTT TTT TTT GTC GTC GTC T 21 N N N T TCC ssSNP ENST00000402934 ssSNP ENST00000404525 ssSNP ENST00000407925 ssSNP ENST00000280527 ssSNP S TCT S S TCT S V A GTT ENST00000295373 nsSNP ENST00000457308 nsSNP ENST00000441663 nsSNP ENST00000355320 nsSNP ENST00000294973 nsSNP ENST00000431905 nsSNP ENST00000414285 nsSNP + V GTA V T 21 A GTT + V GTA V T 21 A GTT + V GTA V T 21 A GTT + V GTA V T 21 A GTT + V GTA V A 21 + GTT V GTA V A 21 + GTT V GTA V A 21 + GTT V GTA V A * + * * * * T 94 GTC V ATC I F F F F V V chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 55261258 C2orf63 CDS rs6716066 C ENST00000295110 ENSG00000162994 55303049 nsSNP 55261258 C2orf63 CDS rs6716066 C ENST00000402516 ENSG00000162994 55303049 nsSNP 55261258 C2orf63 CDS rs6716066 C ENST00000407122 ENSG00000162994 55303049 nsSNP 55261258 C2orf63 CDS rs6716066 C ENST00000401408 ENSG00000162994 55303049 nsSNP 55261258 C2orf63 CDS rs6716066 C ENST00000406437 ENSG00000162994 55303049 nsSNP 55261258 C2orf63 CDS rs6716066 C ENST00000406076 ENSG00000162994 55293443 nsSNP 71151203 NAGK CDS rs2287328 T C ENSG00000124357 71149322 21 GAT D 71151203 NAGK CDS rs2287328 T C ENSG00000124357 71149184 21 GAT D 71151203 NAGK CDS rs2287328 T C ENSG00000124357 71149322 21 GAT D 71151203 NAGK CDS rs2287328 T C ENSG00000124357 71149322 21 GAT D 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71534637 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71534637 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71534637 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71534637 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71534637 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71534637 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71547481 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71547481 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71547481 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71547481 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71547481 60 TCA S 71648660 DYSF CDS rs2288355 A T ENSG00000135636 71547481 60 TCA S 73529352 ALMS1 CDS rs45617134:rs7598901 ENST00000264448 ENSG00000116127 73466505 ssSNP 73529352 ALMS1 CDS rs45617134:rs7598901 ENST00000409009 ENSG00000116127 73466505 ssSNP 73529352 ALMS1 CDS rs45617134:rs7598901 ENST00000377715 ENSG00000116127 73466505 ssSNP T 94 GTC V ATC I T 94 GTC V ATC I T 94 GTC V ATC I T 94 GTC V ATC I T 94 GTC V ATC I T 94 GTC V ATC I + GAC + GAC + GAC + GAC + TCT + TCT + TCT + TCT + TCT + TCT + TCT + TCT + TCT + TCT + TCT + TCT C 754 S T TTC ENST00000244204 ssSNP ENST00000455662 ssSNP ENST00000443938 ssSNP ENST00000450272 ssSNP ENST00000435743 ssSNP ENST00000413539 ssSNP ENST00000429174 ssSNP ENST00000258104 ssSNP ENST00000409762 ssSNP ENST00000409582 ssSNP ENST00000409651 ssSNP ENST00000394120 ssSNP ENST00000409744 ssSNP ENST00000409366 ssSNP ENST00000410020 ssSNP ENST00000410041 ssSNP + F TTT F C 754 T TTC + F TTT F C 754 T TTC + F TTT F D D D D S S S S S S S S S S S chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 73529352 ALMS1 CDS rs45617134:rs7598901 ENST00000443750 ENSG00000116127 73466505 ssSNP 79107769 REG3G CDS rs452267 T C ENSG00000143954 79106728 36 TAT Y 79107769 REG3G CDS rs452267 T C ENSG00000143954 79106728 36 TAT Y 85634829 GGCX CDS rs1254896 T G ENSG00000115486 85642060 52 GGA G 85634829 GGCX CDS rs1254896 T G ENSG00000115486 85642060 52 GGA G 85778240 GNLY CDS rs11127 C T ENSG00000115523 85775053 71 ACC T 85778240 GNLY CDS rs11127 C T ENSG00000115523 85775624 71 ACC T 86544761 KDM3A CDS rs12714187 G A ENSG00000115548 86522682 74 GCG A 86544761 KDM3A CDS rs12714187 G A ENSG00000115548 86522682 74 GCG A 86544761 KDM3A CDS rs12714187 G A ENSG00000115548 86522682 74 GCG A 86544761 KDM3A CDS rs12714187 G A ENSG00000115548 86522682 74 GCG A 88253906 THNSL2 CDS rs4129190 G ENST00000358591 ENSG00000144115 88253785 nsSNP 88253906 THNSL2 CDS rs4129190 G ENST00000377254 ENSG00000144115 88253785 nsSNP 88253906 THNSL2 CDS rs4129190 G ENST00000402102 ENSG00000144115 88253785 nsSNP 88253906 THNSL2 CDS rs4129190 G ENST00000449349 ENSG00000144115 88251938 nsSNP 88253906 THNSL2 CDS rs4129190 G ENST00000419759 ENSG00000144115 88253785 nsSNP 88253906 THNSL2 CDS rs4129190 G ENST00000343544 ENSG00000144115 88253785 nsSNP 88253906 THNSL2 CDS rs4129190 G ENST00000324166 ENSG00000144115 88253785 nsSNP 96357484 ITPRIPL1 CDS rs2279105 C ENST00000439118 ENSG00000198885 96355305 nsSNP 96357484 ITPRIPL1 CDS rs2279105 C ENST00000420728 ENSG00000198885 NSCF 305 * 96357484 ITPRIPL1 CDS rs2279105 C ENST00000361124 ENSG00000198885 96356073 nsSNP 106789620 ST6GAL2 CDS rs1470591 G ENST00000361686 ENSG00000144057 106826863 ssSNP 106789620 ST6GAL2 CDS rs1470591 G ENST00000409382 ENSG00000144057 106826863 ssSNP C 754 + TAC + TAC GGC GGC + ATC + ATC + GCA + GCA + GCA + GCA A 101 T TTC Y Y G G I I A A A A + GGG + F TTT F ENST00000393897 ssSNP ENST00000272324 ssSNP ENST00000233838 ssSNP ENST00000430215 ssSNP ENST00000263863 nsSNP ENST00000409696 nsSNP ENST00000409556 ssSNP ENST00000312912 ssSNP ENST00000441719 ssSNP ENST00000409064 ssSNP G GAG E A 101 + GGG G GAG E A 101 + GGG G GAG E A 21 + GGG G GAG E A 101 + GGG G GAG E A 101 + GGG G GAG E A 101 + GGG G GAG E T 307 + ACG T ATG M T * + * * * * T 309 + ACG T ATG M A 217 CCC P CCT P A 217 CCC P CCT P chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 106789620 ST6GAL2 CDS rs1470591 G ENST00000361803 ENSG00000144057 NSCF 86 * 112403459 MERTK CDS rs13027171 G A ENSG00000153208 112372784 129 AGT S 112471472 MERTK CDS rs2230515 A G ENSG00000153208 112372784 52 ATT I 112471472 MERTK CDS rs2230515 A G ENSG00000153208 112419054 52 ATT I 112471472 MERTK CDS rs2230515 A G ENSG00000153208 112456961 12 ATT I 112471472 MERTK CDS rs2230515 A G ENSG00000153208 112456961 12 ATT I 119846311 DBI CDS rs8192506 A G ENSG00000155368 119841098 20 ATG M 119846311 DBI CDS rs8192506 A G ENSG00000155368 119841631 20 ATG M 119846311 DBI CDS rs8192506 A G ENSG00000155368 119841631 20 ATG M 119846311 DBI CDS rs8192506 A G ENSG00000155368 119841330 20 ATG M 119846311 DBI CDS rs8192506 A G ENSG00000155368 119841631 20 ATG M 119846311 DBI CDS rs8192506 A G ENSG00000155368 119841966 20 ATG M 119915610 SCTR CDS rs1530100:rs17415798 ENST00000019103 ENSG00000080293 119998270 ssSNP 121442917 GLI2 CDS rs2592595 G A ENSG00000074047 121271367 44 TCG S 121442917 GLI2 CDS rs2592595 G A ENSG00000074047 121271367 44 TCG S 121442917 GLI2 CDS rs2592595 G A ENSG00000074047 121271367 44 TCG S 121442917 GLI2 CDS rs2592595 G A ENSG00000074047 121271367 44 TCG S 121442917 GLI2 CDS rs2592595 G A ENSG00000074047 NSCF 44 * * * 121705959 TFCP2L1 CDS rs2304667 G ENST00000263707 ENSG00000115112 121759153 ssSNP 130668419 TUBA3E CDS rs62165074 G ENST00000312988 ENSG00000152086 130672401 nsSNP 131204143 GPR148 CDS rs272128 A ENST00000309926 ENSG00000173302 131203195 nsSNP 136272129 LCT CDS rs2322659 T C ENSG00000115850 136311207 49 AAT N 136272129 LCT CDS rs2322659 T C ENSG00000115850 136291450 49 CAA Q 136272129 LCT CDS rs2322659 T C ENSG00000115850 NSCF 49 * * * 136310628 LCT CDS rs2236783 G A ENSG00000115850 136311207 58 ACC T 151934816 TNFAIP6 CDS rs1046668 A ENST00000243347 ENSG00000123610 151922427 nsSNP 159371862 DAPL1 CDS rs10497199 G A A * + AAT + GTT + GTT + GTT + GTT + GTG + GTG + GTG + GTG + GTG + GTG A 6 + TCA + TCA + TCA + TCA + * A 55 * N V V V V V V V V V V G AAT S S S S * ATC * * * ENST00000295408 nsSNP ENST00000295408 nsSNP ENST00000409780 nsSNP ENST00000421804 nsSNP ENST00000393237 nsSNP ENST00000355857 nsSNP ENST00000409094 nsSNP ENST00000311521 nsSNP ENST00000419076 nsSNP ENST00000401684 nsSNP ENST00000393103 nsSNP N AAC N ENST00000452319 ssSNP ENST00000361492 ssSNP ENST00000435313 ssSNP ENST00000360874 ssSNP ENST00000449588 * I ATT I A 90 CGG R TGG W C 236 + ACA T CCA P AGT CAG * ACT G 36 + S Q * T + CAA ENST00000264162 nsSNP ENST00000455227 ssSNP ENST00000452974 * ENST00000264162 ssSNP Q CGA R ENST00000409042 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 ENSG00000163331 159360131 11 GCA A 159371862 DAPL1 CDS rs10497199 G A ENSG00000163331 159360131 11 GCA A 159371862 DAPL1 CDS rs10497199 G A ENSG00000163331 NSCF 11 * * * 159662421 TANC1 CDS rs34588551 C T ENSG00000115183 159630669 26 CCA P 159662421 TANC1 CDS rs34588551 C T ENSG00000115183 159630669 26 CCA P 159743441 TANC1 CDS rs12988603 C T ENSG00000115183 159630669 128 AAC N 159743441 TANC1 CDS rs12988603 C T ENSG00000115183 159630669 128 AAC N 169741235 LRP2 CDS rs2229265 C T ENSG00000081479 169927153 68 CAG Q 169837774 LRP2 CDS rs830994 G A ENSG00000081479 169927153 49 GTC V 169837774 LRP2 CDS rs830994 G A ENSG00000081479 169927153 49 GTC V 178644860 PDE11A CDS rs6433711 C ENST00000286063 ENSG00000128655 178645408 nsSNP 183335749 DNAJC10 CDS rs192618 A ENST00000264065 ENSG00000077232 183291059 ssSNP 183335749 DNAJC10 CDS rs192618 A ENST00000392392 ENSG00000077232 183291059 ssSNP 189583666 COL3A1 CDS rs1516446 T ENST00000304636 ENSG00000168542 189547461 nsSNP 189583666 COL3A1 CDS rs1516446 T ENST00000317840 ENSG00000168542 189547461 nsSNP 189616182 COL5A2 CDS rs6434312 A ENST00000374866 ENSG00000204262 189752573 ssSNP 189616182 COL5A2 CDS rs6434312 A ENST00000452536 ENSG00000204262 189651526 ssSNP 189641076 COL5A2 CDS rs2229495 T ENST00000374866 ENSG00000204262 189752573 ssSNP 189641076 COL5A2 CDS rs2229495 T ENST00000452536 ENSG00000204262 189651526 ssSNP 206289278 NRP2 CDS rs849541 G A ENSG00000118257 206256260 65 AGG R 206289278 NRP2 CDS rs849541 G A ENSG00000118257 206256260 65 AGG R 206289278 NRP2 CDS rs849541 G A ENSG00000118257 206256260 65 AGG R 206289278 NRP2 CDS rs849541 G A ENSG00000118257 206256260 65 AGG R 206289278 NRP2 CDS rs849541 G A ENSG00000118257 206256260 65 AGG R 206289278 NRP2 CDS rs849541 G A ENSG00000118257 206256260 65 AGG R 206289278 NRP2 CDS rs849541 G A ACA + ACA + * + TCA + TCA + AAT + AAT CAA GTT GTT T 361 T G 24 T * S S N N Q V V CGG nsSNP ENST00000309950 nsSNP ENST00000343761 * ENST00000454300 nsSNP ENST00000263635 nsSNP ENST00000454300 ssSNP ENST00000263635 ssSNP ENST00000263816 ssSNP ENST00000263816 ssSNP ENST00000443831 ssSNP R CAG Q + AAA K AAG K G 24 + AAA K AAG K G 47 + CAT H CAG Q G 47 + CAT H CAG Q G 47 GGT G GGC G G 47 GGT G GGC G C 8 CCA P CCG P C 8 CCA P CCG P + AAG + AAG + AAG + AAG + AAG + AAG + K K K K K K ENST00000360409 nsSNP ENST00000355117 nsSNP ENST00000417189 nsSNP ENST00000357118 nsSNP ENST00000357785 nsSNP ENST00000412873 nsSNP ENST00000272849 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 ENSG00000118257 206256260 65 AGG R 206300940 NRP2 CDS rs61590847:rs849526 ENST00000360409 ENSG00000118257 206256260 ssSNP 206300940 NRP2 CDS rs61590847:rs849526 ENST00000355117 ENSG00000118257 206256260 ssSNP 206300940 NRP2 CDS rs61590847:rs849526 ENST00000417189 ENSG00000118257 206256260 ssSNP 206300940 NRP2 CDS rs61590847:rs849526 ENST00000357118 ENSG00000118257 206256260 ssSNP 206300940 NRP2 CDS rs61590847:rs849526 ENST00000357785 ENSG00000118257 206256260 ssSNP 206300940 NRP2 CDS rs61590847:rs849526 ENST00000412873 ENSG00000118257 206256260 ssSNP 206300940 NRP2 CDS rs61590847:rs849526 ENST00000272849 ENSG00000118257 206256260 ssSNP 207167712 ADAM23 CDS rs3732079 C ENST00000264377 ENSG00000114948 207016836 ssSNP 207167712 ADAM23 CDS rs3732079 C ENST00000374415 ENSG00000114948 207016836 ssSNP 207167712 ADAM23 CDS rs3732079 C ENST00000374416 ENSG00000114948 207016836 ssSNP 207167712 ADAM23 CDS rs3732079 C ENST00000431817 ENSG00000114948 NSCF 6 * 207330004 MDH1B CDS rs1990849 A G ENSG00000138400 207338238 5 TAT Y 207330004 MDH1B CDS rs1990849 A G ENSG00000138400 207338238 5 TAT Y 207330004 MDH1B CDS rs1990849 A G ENSG00000138400 207338238 5 TAT Y 207330004 MDH1B CDS rs1990849 A G ENSG00000138400 207338238 5 TAT Y 207330004 MDH1B CDS rs1990849 A G ENSG00000138400 207338238 5 TAT Y 208715804 CRYGB CDS rs796287 T G ENSG00000182187 208719087 78 ATC I 208898575 PIKFYVE CDS rs2363468 T ENST00000264380 ENSG00000115020 208844489 nsSNP 208898575 PIKFYVE CDS rs2363468 T ENST00000392200 ENSG00000115020 208873960 nsSNP 208898575 PIKFYVE CDS rs2363468 T ENST00000452564 ENSG00000115020 208844489 nsSNP 215528258 ABCA12 CDS rs10498027 G ENST00000272895 ENSG00000144452 215711174 ssSNP 215528258 ABCA12 CDS rs10498027 G AAG T 75 K C TAT nsSNP + Y TAC Y T 75 C TAT + Y TAC Y T 75 C TAT + Y TAC Y T 75 C TAT + Y TAC Y T 75 C TAT + Y TAC Y T 75 C TAT + Y TAC Y T 75 C TAT + Y TAC Y T 6 + GCC A GCT A T 6 + GCC A GCT A T 6 + GCC A GCT A T * + * * * * TAC TAC TAC TAC TAC CTC C 336 Y Y Y Y Y L + TTG ENST00000374412 ssSNP ENST00000432911 ssSNP ENST00000454776 ssSNP ENST00000436472 ssSNP ENST00000392214 ssSNP ENST00000260988 nsSNP L TCG S C 336 + TTG L TCG S C 336 + TTG L TCG S A 72 TAC Y TAT Y A - chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 ENST00000419637 ENSG00000144452 215711174 72 ssSNP 215528258 ABCA12 CDS rs10498027 G A ENST00000389661 ENSG00000144452 215604894 72 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000258412 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000444881 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000437694 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000439306 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000429501 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000425694 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000418569 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000440422 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000444183 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000453776 ENSG00000135926 218855106 34 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000444000 ENSG00000135926 218855106 33 ssSNP 218853059 TMBIM1 CDS rs2045435 T C ENST00000453281 ENSG00000135926 218855106 15 ssSNP 218940051 C2orf62 CDS rs3845833 C T ENST00000289388 ENSG00000158428 218929852 16 ssSNP 227581239 COL4A4 CDS rs60763679:rs2228555 ENST00000396625 ENSG00000081052 227720441 25 ssSNP 227581239 COL4A4 CDS rs60763679:rs2228555 ENST00000329662 ENSG00000081052 227720441 25 ssSNP 227624076 COL4A4 CDS rs1800517 G A ENST00000396625 ENSG00000081052 227720441 42 nsSNP 227624076 COL4A4 CDS rs1800517 G A ENST00000329662 ENSG00000081052 227720441 42 nsSNP 227821419 COL4A3 CDS rs6436669 A G ENST00000396578 ENSG00000169031 227737687 16 nsSNP TAC Y TAT Y TAC Y TAT Y GCA A GCG A GCA A GCG A GCA A GCG A GCA A GCG A GCA A GCG A GCA A GCG A GCA A GCG A GCA A GCG A GCA A GCG A GCA A GCG A GCA A GCG A GCA A GCG A + CCC P CCT P T GTA C V GTG V T GTA C V GTG V CCG P CTG L CCG P CTG L + GAA E GGA G chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 227821419 COL4A3 CDS rs6436669 A ENST00000328380 ENSG00000169031 227737687 nsSNP 227821419 COL4A3 CDS rs6436669 A ENST00000335583 ENSG00000169031 227737687 nsSNP 227821419 COL4A3 CDS rs6436669 A ENST00000396574 ENSG00000169031 227737687 nsSNP 227821419 COL4A3 CDS rs6436669 A ENST00000315699 ENSG00000169031 227737687 nsSNP 228124956 AGFG1 CDS rs13426457 A G ENSG00000173744 228045427 37 ACA T 228124956 AGFG1 CDS rs13426457 A G ENSG00000173744 228045382 37 ACA T 228124956 AGFG1 CDS rs13426457 A G ENSG00000173744 228045382 37 ACA T 228124956 AGFG1 CDS rs13426457 A G ENSG00000173744 228045382 37 ACA T 228124956 AGFG1 CDS rs13426457 A G ENSG00000173744 228045382 37 ACA T 228124956 AGFG1 CDS rs13426457 A G ENSG00000173744 228045382 37 ACA T 228124956 AGFG1 CDS rs13426457 A G ENSG00000173744 NSCF 37 * * * 231114924 SP100 CDS rs836237 T C ENSG00000067066 230989256 70 ATG M 231114924 SP100 CDS rs836237 T C ENSG00000067066 231047358 70 ATG M 231114924 SP100 CDS rs836237 T C ENSG00000067066 NSCF 70 * * * 233057832 ECEL1 CDS rs1529874 G A ENSG00000171551 233059605 15 CAT H 233057832 ECEL1 CDS rs1529874 G A ENSG00000171551 233059605 15 CAT H 233057832 ECEL1 CDS rs1529874 G A ENSG00000171551 233059605 15 CAT H 234292676 UGT1A4 CDS rs2011404 T ENST00000373409 ENSG00000244474 234292206 ssSNP 234292676 UGT1A4 CDS rs2011404 T ENST00000450233 ENSG00000244474 234292206 ssSNP 234415281 HJURP CDS rs3732215 G C ENSG00000123485 234427883 309 TCC S 234415281 HJURP CDS rs3732215 G C ENSG00000123485 234427883 309 TCC S 234415281 HJURP CDS rs3732215 G C ENSG00000123485 234427883 309 TCC S 234415281 HJURP CDS rs3732215 G C ENSG00000123485 234427883 309 TCC S 234415281 HJURP CDS rs3732215 G C ENSG00000123485 NSCF 45 * * * 234415570 HJURP CDS rs3806589 T C ENSG00000123485 234427883 20 AGA R 234415570 HJURP CDS rs3806589 T C ENSG00000123485 234427883 20 AGA R 234415570 HJURP CDS rs3806589 T C G 16 + GAA E GGA G G 16 + GAA E GGA G G 16 + GAA E GGA G G 16 + GAA E GGA G + ACG + ACG + ACG + ACG + ACG + ACG + * + ACG + ACG + * TAT TAT TAT C 396 C 396 TGC TGC TGC TGC * GGA GGA - T T T T T T * T T * Y Y Y + TGT + TGT C C C C * G G ENST00000409979 ssSNP ENST00000310078 ssSNP ENST00000446083 ssSNP ENST00000409315 ssSNP ENST00000373671 ssSNP ENST00000409171 ssSNP ENST00000458212 * ENST00000340126 nsSNP ENST00000414648 nsSNP ENST00000431952 * ENST00000304546 nsSNP ENST00000427467 nsSNP ENST00000409941 nsSNP C TGC C C TGC C ENST00000411486 nsSNP ENST00000432087 nsSNP ENST00000441687 nsSNP ENST00000414924 nsSNP ENST00000454020 * ENST00000411486 nsSNP ENST00000432087 nsSNP ENST00000441687 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 ENSG00000123485 234427883 20 AGA R 234415570 HJURP CDS rs3806589 T C ENSG00000123485 234427883 20 AGA R 234415570 HJURP CDS rs3806589 T C ENSG00000123485 NSCF 20 * * * 235616558 SH3BP4 CDS rs3795962 A ENST00000392011 ENSG00000130147 235608386 ssSNP 235616558 SH3BP4 CDS rs3795962 A ENST00000409212 ENSG00000130147 235608386 ssSNP 235616558 SH3BP4 CDS rs3795962 A ENST00000344528 ENSG00000130147 235608386 ssSNP 236622561 AGAP1 CDS rs2034648 G A ENSG00000157985 236068070 103 GTC V 236622561 AGAP1 CDS rs2034648 G A ENSG00000157985 236068070 103 GTC V 236622561 AGAP1 CDS rs2034648 G A ENSG00000157985 236243483 103 GTC V 236622561 AGAP1 CDS rs2034648 G A ENSG00000157985 NSCF 103 * * * 236622561 AGAP1 CDS rs2034648 G A ENSG00000157985 NSCF 103 * * * 237908203 COL6A3 CDS rs2270669 C ENST00000295550 ENSG00000163359 237970197 nsSNP 237908203 COL6A3 CDS rs2270669 C ENST00000414860 ENSG00000163359 237970197 nsSNP 237908203 COL6A3 CDS rs2270669 C ENST00000346358 ENSG00000163359 237970197 nsSNP 237908203 COL6A3 CDS rs2270669 C ENST00000347401 ENSG00000163359 237970197 nsSNP 237908203 COL6A3 CDS rs2270669 C ENST00000353578 ENSG00000163359 237970197 nsSNP 237908203 COL6A3 CDS rs2270669 C ENST00000472056 ENSG00000163359 237970197 nsSNP 237908203 COL6A3 CDS rs2270669 C ENST00000409809 ENSG00000163359 237970197 nsSNP 237914369 COL6A3 CDS rs4433949 C ENST00000295550 ENSG00000163359 237970197 ssSNP 237914369 COL6A3 CDS rs4433949 C ENST00000414860 ENSG00000163359 237970197 ssSNP 237914369 COL6A3 CDS rs4433949 C ENST00000346358 ENSG00000163359 237970197 ssSNP 237914369 COL6A3 CDS rs4433949 C ENST00000347401 ENSG00000163359 237970197 ssSNP 237914369 COL6A3 CDS rs4433949 C ENST00000353578 ENSG00000163359 237970197 GGA GGA * G 72 G G 72 G 72 + ATC + ATC + ATC + * + * G 68 G * + CTA nsSNP ENST00000414924 nsSNP ENST00000454020 * L CTG L + CTA L CTG L + CTA L CTG L I I I * * GCT ENST00000304032 nsSNP ENST00000336665 nsSNP ENST00000409538 nsSNP ENST00000418654 * ENST00000453371 * A CCT P G 68 GCT A CCT P G 68 GCT A CCT P G 68 GCT A CCT P G 68 GCT A CCT P G 68 GCT A CCT P G 68 GCT A CCT P T 163 GCG A GCA A T 163 GCG A GCA A T 163 GCG A GCA A T 163 GCG A GCA A T 163 GCG A GCA A chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr2 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 ssSNP 237914369 COL6A3 CDS rs4433949 C ENST00000472056 ENSG00000163359 237970197 ssSNP 237914369 COL6A3 CDS rs4433949 C ENST00000409809 ENSG00000163359 237970197 ssSNP 238664622 SCLY CDS rs1128552 T C ENSG00000132330 238634435 12 GCT A 238664622 SCLY CDS rs1128552 T C ENSG00000132330 238634435 12 GCT A 238664622 SCLY CDS rs1128552 T C ENSG00000132330 NSCF 24 * * * 238664622 SCLY CDS rs1128552 T C ENSG00000132330 238634435 24 GCT A 238664622 SCLY CDS rs1128552 T C ENSG00000132330 NSCF 12 * * * 238664622 SCLY CDS rs1128552 T C ENSG00000132330 NSCF 12 * * * 238664622 SCLY CDS rs1128552 T C ENSG00000132330 NSCF 24 * * * 238664622 SCLY CDS rs1128552 T C ENSG00000132330 NSCF 12 * * * 241730935 PASK CDS rs6709462 T C ENSG00000115687 241731118 10 ACA T 241730935 PASK CDS rs6709462 T C ENSG00000115687 241731118 10 ACA T 241730935 PASK CDS rs6709462 T C ENSG00000115687 241731118 10 ACA T 241730935 PASK CDS rs6709462 T C ENSG00000115687 241731118 10 ACA T 241730935 PASK CDS rs6709462 T C ENSG00000115687 241731118 10 ACA T 241730935 PASK CDS rs6709462 T C ENSG00000115687 241731118 10 ACA T 1399718 CNTN6 CDS rs2291101 G A OTTHUMG00000119030 1164693 92 GTG 1399718 CNTN6 CDS rs2291101 G A OTTHUMG00000119030 1164693 92 GTG 3145792 TRNT1 CDS rs60687142:rs334773 OTTHUMT00000314014 OTTHUMG00000090259 CTG L nsSNP 3145792 TRNT1 CDS rs60687142:rs334773 OTTHUMT00000314015 OTTHUMG00000090259 CTG L nsSNP 3145792 TRNT1 CDS rs60687142:rs334773 OTTHUMT00000314016 OTTHUMG00000090259 CTG L nsSNP 3145792 TRNT1 CDS rs60687142:rs334773 OTTHUMT00000314017 OTTHUMG00000090259 CTG L nsSNP 3145792 TRNT1 CDS rs60687142:rs334773 OTTHUMT00000337579 OTTHUMG00000090259 CTG L nsSNP 3145792 TRNT1 CDS rs60687142:rs334773 OTTHUMT00000337580 OTTHUMG00000090259 CTG L nsSNP 3145792 TRNT1 CDS rs60687142:rs334773 OTTHUMT00000337582 OTTHUMG00000090259 T 163 GCG A GCA A T 163 GCG A GCA A + GCC A + GCC A + * * + GCC A + * * + * * + * * + * * ACG T ACG T ACG T ACG T ACG T ACG T + V GTA + V GTA C T 3145725 ENST00000254663 ssSNP ENST00000422984 ssSNP ENST00000373332 * ENST00000409736 ssSNP ENST00000437134 * ENST00000450965 * ENST00000440143 * ENST00000433750 * ENST00000234040 ssSNP ENST00000405260 ssSNP ENST00000358649 ssSNP ENST00000403638 ssSNP ENST00000437780 ssSNP ENST00000452907 ssSNP OTTHUMT00000337490 V ssSNP OTTHUMT00000239235 V ssSNP + 80 CCG P C T 3145725 + 80 CCG P C T 3145725 + 80 CCG P C T 3145725 + 80 CCG P C T 3145725 + 80 CCG P C T 3145725 + 80 CCG P C T 3145725 + 80 CCG P chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 CTG L nsSNP 3145792 TRNT1 CDS OTTHUMT00000337583 CTG L nsSNP 3145792 TRNT1 CDS OTTHUMT00000337616 CTG L nsSNP 9966163 PRRT3 CDS OTTHUMG00000155285 9966163 PRRT3 CDS OTTHUMG00000155285 9966163 PRRT3 CDS OTTHUMG00000155285 10388601 ATP2B2 OTTHUMT00000250576 GGT G ssSNP 10388601 ATP2B2 OTTHUMT00000276086 GGT G ssSNP 10388601 ATP2B2 OTTHUMT00000276087 * * * 10388601 ATP2B2 OTTHUMT00000276089 GGT G ssSNP 13342406 NUP210 OTTHUMT00000340085 TCA S ssSNP 14699417 C3orf20 OTTHUMT00000340586 AAC N nsSNP 33030725 GLB1 CDS OTTHUMG00000155781 33030725 GLB1 CDS OTTHUMG00000155781 33030725 GLB1 CDS OTTHUMG00000155781 37549955 ITGA9 CDS OTTHUMG00000130815 37549955 ITGA9 CDS OTTHUMG00000130815 38383365 XYLB CDS OTTHUMG00000131294 42762473 CCDC13 OTTHUMT00000256652 TCC S ssSNP 45508228 LARS2 CDS OTTHUMT00000256884 GCA A ssSNP 45508228 LARS2 CDS OTTHUMT00000345001 GCA A ssSNP 45508228 LARS2 CDS OTTHUMT00000345002 GCA A ssSNP 45540558 LARS2 CDS OTTHUMG00000133177 45540558 LARS2 CDS OTTHUMG00000133177 rs60687142:rs334773 OTTHUMG00000090259 C T 3145725 + 68 CCG P rs60687142:rs334773 OTTHUMG00000090259 C T 3145725 + 80 CCG P rs55847610 A G 9966797 378 TCC S CCC rs55847610 A G 9966797 378 TCC S CCC rs55847610 A G 9966797 378 TCC S CCC CDS rs58627534:rs2289273 G OTTHUMG00000128679 10466225 OTTHUMT00000339322 P nsSNP OTTHUMT00000339324 P nsSNP OTTHUMT00000339325 P nsSNP A 108 GGC G CDS rs58627534:rs2289273 G OTTHUMG00000128679 10466225 A 108 GGC G CDS rs58627534:rs2289273 OTTHUMG00000128679 NSCF A * * * CDS rs58627534:rs2289273 G OTTHUMG00000128679 10466225 A 108 GGC G CDS rs665064 C OTTHUMG00000157268 T 13436724 25 TCG S CDS rs9821143 G OTTHUMG00000155545 A + 14699225 291 GAC D rs4302331 A G 33113579 81 TGC rs4302331 A G 33089192 81 TGC rs4302331 A G 33113579 81 TGC rs267561 G A 37468870 8 GGA rs267561 G A 37468870 8 GGA rs843890 G A 38363364 3 ACG CDS rs2240859 A OTTHUMG00000133046 C CGC C CGC C CGC + G GAA + G GAA + T ACA G 42774839 OTTHUMT00000341569 R nsSNP OTTHUMT00000341570 R nsSNP OTTHUMT00000341571 R nsSNP OTTHUMT00000253361 E nsSNP OTTHUMT00000342360 E nsSNP OTTHUMT00000254062 T ssSNP 50 TCT S rs58467714:rs2128361 OTTHUMG00000133177 G A 45410950 + 68 GCG A rs58467714:rs2128361 OTTHUMG00000133177 G A 45410950 + 68 GCG A rs58467714:rs2128361 OTTHUMG00000133177 G A 45410950 + 68 GCG A rs267220 45410950 rs267220 45410950 + V + V OTTHUMT00000256884 V ssSNP OTTHUMT00000345001 V ssSNP A 46 A 46 G GTA G GTA G 108 GTG GTG chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 45540558 LARS2 CDS rs267220 A G OTTHUMG00000133177 45410950 46 GTA 47593957 CSPG5 CDS rs3732530 C A OTTHUMG00000133518 47594103 630 GGG 47593957 CSPG5 CDS rs3732530 C A OTTHUMG00000133518 47595185 465 GGG 47593957 CSPG5 CDS rs3732530 C A OTTHUMG00000133518 47595185 465 GGG 50119955 RBM5 CDS rs1061474 T C OTTHUMG00000156785 50102872 36 GCT 52428933 PHF7 CDS rs498778 C T OTTHUMG00000158495 52421936 44 GGC 52428933 PHF7 CDS rs498778 C T OTTHUMG00000158495 NSCF 44 * * 52428933 PHF7 CDS rs498778 C T OTTHUMG00000158495 52421936 44 GGC 52428933 PHF7 CDS rs498778 C T OTTHUMG00000158495 NSCF 44 * * 52519510 STAB1 CDS rs9835659 A G OTTHUMG00000158574 52504470 53 ATG 52529344 STAB1 CDS rs7630214 G C OTTHUMG00000158574 52504470 2 GCC 53199042 PRKCD CDS rs900495 T C OTTHUMG00000133659 53187479 15 CCT 53199042 PRKCD CDS rs900495 T C OTTHUMG00000133659 53187479 15 CCT 57503543 DNAH12 CDS rs9311651 A OTTHUMT00000351432 OTTHUMG00000158598 GCT A nsSNP 57503543 DNAH12 CDS rs9311651 A OTTHUMT00000351433 OTTHUMG00000158598 GCT A nsSNP 57503543 DNAH12 CDS rs9311651 A OTTHUMT00000351434 OTTHUMG00000158598 GCT A nsSNP 69179304 TMF1 CDS rs2292199 G A OTTHUMG00000158771 69183925 105 TCC 69179304 TMF1 CDS rs2292199 G A OTTHUMG00000158771 69183925 105 TCC 99465947 OR5H6 CDS rs2132894 C G ENSG00000197621 99465819 128 CTC L 113282535 TMPRSS7 CDS rs340151 A OTTHUMT00000347590 OTTHUMG00000157148 TGT C nsSNP 113667715 BTLA CDS rs9288952 G A ENSG00000186265 113700893 205 CCG P 113667715 BTLA CDS rs9288952 G A ENSG00000186265 113700893 205 CCG P 114658812 CCDC52 CDS rs7637618 G ENST00000295872 ENSG00000163611 114708140 ssSNP 114856620 KIAA2018 CDS rs930818 A ENST00000316407 ENSG00000176542 114876413 nsSNP 114857767 KIAA2018 CDS * T C ENSG00000176542 114876413 5195 AGT S 120131750 IGSF11 CDS rs2903250 G ENST00000354673 ENSG00000144847 120306727 nsSNP + V GTG G GTG G GTG G GTG + A GCC + G GGT + * * + G GGT + * * + M GTG + A CCC + P CCC + P CCC G 57503635 OTTHUMT00000345002 V ssSNP OTTHUMT00000345350 V nsSNP OTTHUMT00000257489 V nsSNP OTTHUMT00000257490 V nsSNP OTTHUMT00000345797 A ssSNP OTTHUMT00000351155 G ssSNP OTTHUMT00000351157 * * OTTHUMT00000351158 G ssSNP OTTHUMT00000351164 * * OTTHUMT00000351380 V nsSNP OTTHUMT00000351380 P nsSNP OTTHUMT00000257818 P ssSNP OTTHUMT00000257819 P ssSNP 75 GTT V G 57503635 75 GTT V G 57503635 75 GTT V S TCT S TCT + CTG L T + 113243495 OTTHUMT00000352106 S ssSNP OTTHUMT00000352107 S ssSNP ENST00000359776 ssSNP CTG CTG A 82 ENST00000334529 nsSNP ENST00000383680 nsSNP L L CCC G 6342 GTG GGT T 62 G CCA 84 AGT S P CCT P V GCG A ENST00000316407 nsSNP P ACA T chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 120131750 IGSF11 CDS rs2903250 G T ENST00000393775 ENSG00000144847 NSCF 62 * * 120850080 POPDC2 CDS rs2688643 T C ENST00000264231 ENSG00000121577 120861958 125 ssSNP 120850080 POPDC2 CDS rs2688643 T C ENST00000341124 ENSG00000121577 120861958 125 ssSNP 120917217 C3orf15 CDS rs6438544 G C ENST00000273390 ENSG00000183833 120904636 63 nsSNP 120917217 C3orf15 CDS rs6438544 G C ENST00000264232 ENSG00000183833 120904636 63 nsSNP 120917217 C3orf15 CDS rs6438544 G C ENST00000383667 ENSG00000183833 NSCF 63 * * 121016600 NR1I2 CDS rs4058490 T C + ENSG00000144852 NSCF 58 * * * * 121016600 NR1I2 CDS rs4058490 T C + ENSG00000144852 120984295 58 AAT N AAC 121016600 NR1I2 CDS rs4058490 T C + ENSG00000144852 NSCF 58 * * * * 121369466 GPR156 CDS rs57838083:rs902790 ENST00000383665 ENSG00000175697 NSCF 455 * * 121369466 GPR156 CDS rs57838083:rs902790 ENST00000315843 ENSG00000175697 121445633 455 nsSNP 122835944 HCLS1 CDS rs2070179 T C ENSG00000180353 122859882 11 ACC T GCC 125862507 KALRN CDS rs333289 T C + OTTHUMG00000125545 125786359 3 ATT I 125862507 KALRN CDS rs333289 T C + OTTHUMG00000125545 125706440 3 ATT I 125862507 KALRN CDS rs333289 T C + OTTHUMG00000125545 NSCF 3 * * * 130769325 PLXND1 CDS rs2245278 G A ENST00000324093 ENSG00000004399 130808170 13 ssSNP 130769325 PLXND1 CDS rs2245278 G A ENST00000393239 ENSG00000004399 130808170 13 ssSNP 131029354 TMCC1 CDS * C T ENSG00000172765 131029909 18 GAG E GAA 133843573 NPHP3 CDS rs821572 C T ENSG00000113971 133861283 67 CGT R CAT 139363433 DBR1 CDS rs2622736 G A ENSG00000138231 139376325 681 GAC D GAT 139812552 FAIM CDS rs811322 G A + ENSG00000158234 139812490 17 CCG P CCA 141764413 CLSTN2 CDS rs11714465 C T ENST00000332210 ENSG00000158258 141136907 70 ssSNP 141889950 TRIM42 CDS rs9876490 C A ENST00000286349 ENSG00000155890 141879762 124 nsSNP 143651021 ATR CDS rs1802904 C T - * * * * TCA S TCG S TCA S TCG S + GCA A CCA P + GCA A CCA P + * * * * * T * ENST00000393716 * ENST00000337940 ssSNP ENST00000393719 * A * * * T GAA A E * N A ATC ATC * TTC TTC GAT D ENST00000314583 nsSNP OTTHUMT00000246891 I ssSNP OTTHUMT00000258840 I ssSNP OTTHUMT00000258842 * * F TTT F F TTT F ENST00000329333 E ssSNP ENST00000264990 H nsSNP ENST00000260803 D ssSNP ENST00000338446 P ssSNP + TCC S TCT S + GCA A GAA E ENST00000383101 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr3 ENSG00000175054 143780234 113 CAG Q 143651021 ATR CDS rs1802904 C T ENSG00000175054 143780234 113 CAG Q 152495187 GPR87 CDS rs2242353 T C ENSG00000138271 152500576 502 CTA L 152638310 IGSF10 CDS rs6781302 G ENST00000282466 ENSG00000152580 152659185 ssSNP 152638310 IGSF10 CDS rs6781302 G ENST00000358179 ENSG00000152580 152641094 ssSNP 156724434 PLCH1 CDS rs58333650:rs9840234 OTTHUMT00000351122 OTTHUMG00000158477 TCC S ssSNP 156724434 PLCH1 CDS rs58333650:rs9840234 OTTHUMT00000351123 OTTHUMG00000158477 TCC S ssSNP 156724434 PLCH1 CDS rs58333650:rs9840234 OTTHUMT00000351124 OTTHUMG00000158477 TCC S ssSNP 156724434 PLCH1 CDS rs58333650:rs9840234 OTTHUMT00000351125 OTTHUMG00000158477 TCC S ssSNP 166247413 SI CDS rs9838509 C A OTTHUMG00000158065 166276492 81 GCG 168560385 ZBBX CDS rs4257551 T A OTTHUMG00000133560 168569035 33 GTA 168560385 ZBBX CDS rs4257551 T A OTTHUMG00000133560 168573381 33 GTA 168560385 ZBBX CDS rs4257551 T A OTTHUMG00000133560 168573381 33 GTA 168560385 ZBBX CDS rs4257551 T A OTTHUMG00000133560 168573381 33 GTA 184336364 LAMP3 CDS rs482912 T C OTTHUMG00000158387 184363135 5 ATT 184336364 LAMP3 CDS rs482912 T C OTTHUMG00000158387 184354848 5 ATT 184408098 MCF2L2 CDS rs6804951 T OTTHUMT00000350868 OTTHUMG00000158388 GCC A nsSNP 184408098 MCF2L2 CDS rs6804951 T OTTHUMT00000350875 OTTHUMG00000158388 GCC A nsSNP 185553595 CLCN2 CDS * C T OTTHUMG00000156747 185561959 34 CGG 185553595 CLCN2 CDS * C T OTTHUMG00000156747 185561959 34 CGG 185553595 CLCN2 CDS * C T OTTHUMG00000156747 185561959 34 CGG 185553595 CLCN2 CDS * C T OTTHUMG00000156747 185561959 34 CGG 185911597 MAGEF1 CDS rs9872799 T OTTHUMT00000345417 OTTHUMG00000156712 GCA A nsSNP 188571350 RTP4 CDS rs1047584 C T OTTHUMG00000156459 188568924 80 ACA 188571620 RTP4 CDS rs1533594 G A OTTHUMG00000156459 188568924 350 TGC 194514620 ATP13A5 CDS rs2280268 C CAA CAA CTG A 765 Q A 765 AAC Q L AAC ssSNP ENST00000350721 ssSNP ENST00000260843 ssSNP N AAT N N AAT N A G 156876520 53 TCT S A G 156796848 53 TCT S A G 156876520 53 TCT S A G 156876520 53 TCT S A GCT V GTT V GTT V GTT V GTT I GTT I GTT C 184628457 OTTHUMT00000350116 A ssSNP OTTHUMT00000257633 V ssSNP OTTHUMT00000257657 V ssSNP OTTHUMT00000257658 V ssSNP OTTHUMT00000350578 V ssSNP OTTHUMT00000350863 V nsSNP OTTHUMT00000350864 V nsSNP C 184628457 8 ACC T 8 ACC T OTTHUMT00000345571 CAG Q nsSNP OTTHUMT00000345572 R CAG Q nsSNP OTTHUMT00000345573 R CAG Q nsSNP OTTHUMT00000345574 R CAG Q nsSNP G 185912301 748 GAA E R + T + C T ATA TAC - OTTHUMT00000344260 I nsSNP OTTHUMT00000344260 Y nsSNP chr3 chr3 chr3 chr3 chr3 chr3 chr3 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 OTTHUMT00000343012 OTTHUMG00000156101 AGC S nsSNP 194563108 ATP13A5 CDS rs6797429 C OTTHUMT00000343012 OTTHUMG00000156101 CAA Q nsSNP 194563108 ATP13A5 CDS rs6797429 C OTTHUMT00000343016 OTTHUMG00000156101 CAA Q nsSNP 195562211 LRRC15 CDS rs13070515 A OTTHUMT00000342858 OTTHUMG00000156048 CCG P nsSNP 195562211 LRRC15 CDS rs13070515 A OTTHUMT00000342859 OTTHUMG00000156048 CCG P nsSNP 195562474 LRRC15 CDS rs11715737 A OTTHUMT00000342858 OTTHUMG00000156048 AAC N ssSNP 195562474 LRRC15 CDS rs11715737 A OTTHUMT00000342859 OTTHUMG00000156048 AAC N ssSNP 197440159 Osta CDS rs939885 G A OTTHUMG00000155684 197427981 29 GTC 638643 PDE6B CDS rs10902758 G A ENSG00000133256 609416 30 GTC V 1367615 KIAA1530 CDS rs9996817 A ENST00000389851 ENSG00000163945 1331880 ssSNP 2796198 SH3BP2 CDS rs3213501 T ENST00000356331 ENSG00000087266 2792143 ssSNP 3189411 HTT CDS rs2857790 A C ENSG00000197386 3046351 66 CTA L 6012239 AC105915.4 CDS rs7695618 C OTTHUMT00000314647 OTTHUMG00000149971 ATG M nsSNP 6017702 AC105915.4 CDS rs6839295 T OTTHUMT00000314647 OTTHUMG00000149971 GTT V nsSNP 6670105 MAN2B2 CDS rs4689490 G ENST00000285599 ENSG00000013288 6627839 ssSNP 8666996 CPZ CDS rs1131140 T C OTTHUMG00000090513 8645461 10 GAT 8667079 CPZ CDS rs7378066 T C OTTHUMG00000090513 8645461 46 ATA 10055483 ZNF518B CDS rs9291410 C ENST00000326756 ENSG00000178163 10057048 nsSNP 15546829 FGFBP1 CDS rs2072313 T OTTHUMT00000214974 OTTHUMG00000097745 AAG K ssSNP 17427983 HCAP-G CDS rs2302212 T OTTHUMT00000250375 OTTHUMG00000128539 GAC D ssSNP 23424620 PPARGC1A CDS rs3755863 C OTTHUMT00000214976 OTTHUMG00000097747 ACA T ssSNP 41678875 WDR21B CDS rs2660320 C ENST00000333141 ENSG00000182308 41678567 194579206 56 GGC G G 194579206 12 GAA E G 194579206 11 GAA E G 195563065 859 CTG L G 195565387 859 CTG L G 195563065 596 AAT N G 195565387 596 AAT N + V + ATC G 61 C 57 ATC I + TCA + CAT + CTC L T 6040975 OTTHUMT00000341253 I nsSNP ENST00000255622 nsSNP S TCG S H CAC H ENST00000355072 ssSNP 15 GTG V C 6040975 50 ATT I A 15 V GTA V + D + I T 1778 + GTG GAC ACA AGC OTTHUMT00000207001 D ssSNP OTTHUMT00000207001 T nsSNP S AAC N C 15547351 539 AAA K C + 17421799 1 GAT D T 23500676 209 ACG T T 327 S AGT S + AGC chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 ssSNP 54856148 PDGFRA CDS rs7685117 T OTTHUMT00000250598 OTTHUMG00000128699 GAC D ssSNP 70547728 UGT2A1 CDS rs1347046 C OTTHUMT00000251554 OTTHUMG00000129398 AAG K nsSNP 72837198 GC CDS rs7041 A C OTTHUMG00000129915 72868597 33 GAT 73633150 ADAMTS3 CDS rs788908 C OTTHUMT00000252164 OTTHUMG00000129912 AAA K nsSNP 74209870 ANKRD17 CDS rs6822576 T ENST00000358602 ENSG00000132466 74343247 ssSNP 74209870 ANKRD17 CDS rs6822576 T ENST00000330838 ENSG00000132466 74343247 ssSNP 74209870 ANKRD17 CDS rs6822576 T ENST00000254802 ENSG00000132466 74343247 ssSNP 74537194 AFP CDS rs4235117 A G OTTHUMG00000130011 74520844 11 ACA 84057241 THAP9 CDS rs1031639 G A OTTHUMG00000130291 84040980 120 ATG 84057286 THAP9 CDS rs897945 G T OTTHUMG00000130291 84040980 165 TTG 88028411 AC093827.1 CDS rs1550931 G OTTHUMT00000253044 OTTHUMG00000130597 TAC Y nsSNP 88620640 SPARCL1 CDS rs61710458:rs9933 OTTHUMT00000253059 OTTHUMG00000130605 GAC D ssSNP 94535786 GRID2 CDS rs1385405 T G OTTHUMG00000130975 93444831 5 GGT 95758290 PDLIM5 CDS rs966845 G OTTHUMT00000253586 OTTHUMG00000130973 ACT T nsSNP 96325345 UNC5C CDS rs2289043 A G OTTHUMG00000130989 96689029 25 ATG 100271756 ADH4 CDS rs1126670 C A ENSG00000198099 100284394 78 CCG P 107081179 NPNT CDS rs4340795 A G ENSG00000168743 107036259 59 ATA I 107081179 NPNT CDS rs4340795 A G ENSG00000168743 107036259 59 ATA I 110823233 CCDC109B CDS rs3733611 T OTTHUMT00000342339 OTTHUMG00000131913 * * * 110823233 CCDC109B CDS rs3733611 T OTTHUMT00000254865 OTTHUMG00000131913 TCC S ssSNP 114496329 ANK2 CDS rs28377576 T C OTTHUMG00000132912 114190334 2679 GTT 126461321 FAT4 CDS rs2710555 C T OTTHUMG00000133100 126457017 870 ATC 126549239 FAT4 CDS rs958415 T C OTTHUMG00000133100 126457017 160 GAT 126549239 FAT4 CDS rs958415 T C C + 54819693 99 GAT D T 70547949 279 AGG R D GAG T 73653341 OTTHUMT00000252167 E nsSNP 91 AGA R C 23 GCA A GCG A C 23 GCA A GCG A C 23 GCA A GCG A + T ACG + M ATA + L TTT T 88031695 OTTHUMT00000252284 T ssSNP OTTHUMT00000252633 I nsSNP OTTHUMT00000252633 F nsSNP 41 TCC S A G 88639748 56 GAT D + G GGG A + 95595463 OTTHUMT00000253588 G ssSNP M CCT + GTA + GTA C NSCF OTTHUMT00000253607 T nsSNP ENST00000265512 ssSNP ENST00000305572 nsSNP ENST00000379987 nsSNP ACG P V V + 48 75 GCT A * * * C + 110700943 46 TCT S + V + I + D + OTTHUMT00000256422 A nsSNP OTTHUMT00000256765 I ssSNP OTTHUMT00000256765 D ssSNP OTTHUMT00000313530 GCT ATT GAC chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 chr4 OTTHUMG00000133100 126534541 160 GAT 126632025 FAT4 CDS rs1014866 A G OTTHUMG00000133100 126457017 1512 AGA 126632025 FAT4 CDS rs1014866 A G OTTHUMG00000133100 126534541 348 AGA 128784450 INTU CDS rs3749507 A G ENSG00000164066 128773640 211 CGA R 128784450 INTU CDS rs3749507 A G ENSG00000164066 128773640 211 CGA R 129034414 PLK4 CDS rs17012739 G T OTTHUMG00000133301 129021740 72 GAG 129232088 LARP2 CDS rs1064205 A G OTTHUMG00000133343 129215557 29 GCA 138669133 PCDH18 CDS rs10018837 A ENST00000344876 ENSG00000189184 138672690 ssSNP 148680523 EDNRA CDS rs5334 G A ENSG00000151617 148626284 29 GAG E 148680523 EDNRA CDS rs5334 G A ENSG00000151617 148626284 29 GAG E 149575966 NR3C2 CDS rs59467477:rs5525 A ENST00000355292 ENSG00000151623 149577460 ssSNP 149575966 NR3C2 CDS rs59467477:rs5525 A ENST00000342437 ENSG00000151623 149577460 ssSNP 149575966 NR3C2 CDS rs59467477:rs5525 A ENST00000358102 ENSG00000151623 149577460 ssSNP 149575966 NR3C2 CDS rs59467477:rs5525 A ENST00000344721 ENSG00000151623 149577460 ssSNP 149576925 NR3C2 CDS rs5522 C T ENSG00000151623 149577460 539 GTT V 149576925 NR3C2 CDS rs5522 C T ENSG00000151623 149577460 539 GTT V 149576925 NR3C2 CDS rs5522 C T ENSG00000151623 149577460 539 GTT V 149576925 NR3C2 CDS rs5522 C T ENSG00000151623 149577460 539 GTT V 154698880 AC106865.2 CDS rs6848033 T OTTHUMT00000334030 OTTHUMG00000153244 * * * 154698880 AC106865.2 CDS rs6848033 T OTTHUMT00000330369 OTTHUMG00000153244 CGC R ssSNP 154698880 AC106865.2 CDS rs6848033 T OTTHUMT00000330370 OTTHUMG00000153244 CGC R ssSNP 154698880 AC106865.2 CDS rs6848033 T OTTHUMT00000330371 OTTHUMG00000153244 CGC R ssSNP 167231831 TLL1 CDS rs2654492 G A ENSG00000038295 167014507 101 CTG L 175834909 GLRA3 CDS rs6812439 T C OTTHUMG00000149816 175986535 105 TCA 175834909 GLRA3 CDS rs6812439 T C OTTHUMG00000149816 175986535 105 TCA 178511744 NEIL3 CDS rs13112358 C T D + R + R + CGG + CGG + E + A G 51 + GAA + GAA G 260 GAC AGG AGG R R GAT GCG TTG E E GAT D ssSNP OTTHUMT00000256765 R ssSNP OTTHUMT00000313530 R ssSNP ENST00000296461 ssSNP ENST00000335251 ssSNP OTTHUMT00000257095 D nsSNP OTTHUMT00000257173 A ssSNP L CTG L ENST00000324300 ssSNP ENST00000358556 ssSNP D GAC D G 260 GAT D GAC D G 260 GAT D GAC D G 260 GAT D GAC D ATT ATT ATT ATT C NSCF I I I I + 20 ENST00000355292 nsSNP ENST00000342437 nsSNP ENST00000358102 nsSNP ENST00000344721 nsSNP * * * C + 154607000 20 CGT R C + 154607000 20 CGT R C + 154607000 20 CGT R + CTA S S + ENST00000061240 ssSNP OTTHUMT00000313427 S ssSNP OTTHUMT00000313428 S ssSNP ENST00000264596 L TCG TCG chr4 chr4 chr4 chr4 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 ENSG00000109674 178468102 132 CCA P CTA 178518748 NEIL3 CDS rs1876268 G A + ENSG00000109674 178468102 77 GGG G AGG 187314200 FAM149A CDS rs4862653 A G ENST00000356371 ENSG00000109794 187310108 52 nsSNP 187314200 FAM149A CDS rs4862653 A G ENST00000227065 ENSG00000109794 187310108 52 nsSNP 187314200 FAM149A CDS rs4862653 A G ENST00000389354 ENSG00000109794 NSCF 52 * * 718280 TPPP CDS rs1697963 T C ENSG00000171368 731173 131 TCA S TCG 1269775 SLC6A19 CDS rs58351406:rs4975629 ENST00000452116 ENSG00000174358 1254766 102 nsSNP 1269775 SLC6A19 CDS rs58351406:rs4975629 ENST00000304460 ENSG00000174358 1254766 26 ssSNP 5199335 ADAMTS16 CDS rs2086310 C G ENST00000433402 ENSG00000145536 5193581 92 nsSNP 5199335 ADAMTS16 CDS rs2086310 C G ENST00000274181 ENSG00000145536 5193581 92 nsSNP 31338045 CDH6 CDS rs2287582 C T + ENSG00000113361 31303338 70 GAC D GAT 52132646 PELO CDS rs1499280 C A + ENSG00000152684 52131986 65 CTG L ATG 52132646 PELO CDS rs1499280 C A + ENSG00000152684 52131986 65 CTG L ATG 52193131 ITGA1 CDS rs2447867 T C + ENSG00000213949 52119945 19 TGT C TGC 53787745 HSPB3 CDS rs7823 T C + ENSG00000169271 53787377 219 GGT G GGC 53851252 SNX18 CDS rs2548612 A C + ENSG00000178996 53849540 61 GAA E GAC 53851252 SNX18 CDS rs2548612 A C + ENSG00000178996 53849540 245 GAA E GAC 54189560 AC112198.2 CDS rs10040872 C T ENST00000453792 ENSG00000226810 NSCF 88 * * 54495718 GPX8 CDS rs381852 A G + ENSG00000164294 54491778 78 AAG K AGG 56213974 MAP3K1 CDS rs832583 A C ENST00000399503 ENSG00000095015 56147158 476 ssSNP 63940824 RGS7BP CDS rs889248 A G ENST00000334025 ENSG00000186479 63838208 80 nsSNP 65386130 ERBB2IP CDS rs36303 A G ENST00000284037 ENSG00000112851 65324303 405 ssSNP 65386130 ERBB2IP CDS rs36303 A G ENST00000380943 ENSG00000112851 65324303 405 ssSNP 65386130 ERBB2IP CDS rs36303 A G ENST00000380939 ENSG00000112851 65324303 405 L R + AAA nsSNP ENST00000264596 nsSNP K GAA E + AAA K GAA E + * * * * S A ACA ENST00000360578 ssSNP G + T GCA A A ACA G T + ACG T + CCC P GCC A + CCC P GCC A D M M C G D D + * R + AGA ENST00000265071 ssSNP ENST00000274311 nsSNP ENST00000381463 nsSNP ENST00000282588 ssSNP ENST00000302005 ssSNP ENST00000343017 nsSNP ENST00000326277 nsSNP * * * ENST00000296734 nsSNP R CGA R + ATC I GTC V + CGA R CGG R + CGA R CGG R + CGA R CGG R chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 ssSNP 65386130 ERBB2IP CDS rs36303 A ENST00000380938 ENSG00000112851 65324303 ssSNP 65386130 ERBB2IP CDS rs36303 A ENST00000380935 ENSG00000112851 65324303 ssSNP 65386130 ERBB2IP CDS rs36303 A ENST00000380936 ENSG00000112851 65324303 ssSNP 70842714 BDP1 CDS rs6886336 G A ENSG00000145734 70787461 80 GTG V 70842714 BDP1 CDS rs6886336 G A ENSG00000145734 70787461 20 GTG V 70980831 MCCC2 CDS rs10064079 A G ENSG00000131844 70919009 5 GCA A 70980831 MCCC2 CDS rs10064079 A G ENSG00000131844 70919009 5 GCA A 73967002 ENC1 CDS rs442425 T C ENSG00000171617 73968064 737 TCA S 76164277 F2RL1 CDS rs616235 G A ENSG00000164251 76150764 6 AGT S 76744743 PDE8B CDS rs335614 A G ENSG00000113231 76542507 51 GAA E 76744743 PDE8B CDS rs335614 A G ENSG00000113231 76542507 51 GAA E 76744743 PDE8B CDS rs335614 A G ENSG00000113231 76542507 51 GAA E 76744743 PDE8B CDS rs335614 A G ENSG00000113231 76542507 51 GAA E 76744743 PDE8B CDS rs335614 A G ENSG00000113231 76542507 51 GAA E 78217233 ARSB CDS rs1065757 C T ENSG00000113273 78316825 70 GTG V 78217233 ARSB CDS rs1065757 C T ENSG00000113273 78316825 70 GTG V 78217233 ARSB CDS rs1065757 C T ENSG00000113273 78316825 70 GTG V 78631800 JMY CDS rs10514159 T C ENSG00000152409 78569058 68 GAT D 78631800 JMY CDS rs10514159 T C ENSG00000152409 78568230 68 GAT D 78631800 JMY CDS rs10514159 T C ENSG00000152409 78568230 68 GAT D 79891128 ANKRD34B CDS rs32857 A ENST00000338682 ENSG00000189127 79891592 nsSNP 82821950 VCAN CDS rs12332199 T C ENSG00000038427 82815094 97 ACT T 82821950 VCAN CDS rs12332199 T C ENSG00000038427 82815094 97 ACT T 82821950 VCAN CDS rs12332199 T C ENSG00000038427 82815094 97 ACT T 82821950 VCAN CDS rs12332199 T C ENSG00000038427 82815094 97 ACT T 82821950 VCAN CDS rs12332199 T C ENSG00000038427 82815094 97 ACT T 96529279 RIOK2 CDS rs160632 C T ENSG00000058729 96544649 172 GGG G G 405 + CGA R CGG R G 405 + CGA R CGG R G 405 + CGA R CGG R + ATG + ATG + GCG + GCG TCG + AAT + GAG + GAG + GAG + GAG + GAG ATG ATG ATG + GAC + GAC + GAC G 489 + ACC + ACC + ACC + ACC + ACC AGG M M A A S N E E E E E M M M D D D TTG T T T T T R ENST00000437938 nsSNP ENST00000358731 nsSNP ENST00000323375 ssSNP ENST00000340941 ssSNP ENST00000302351 ssSNP ENST00000296677 nsSNP ENST00000346042 ssSNP ENST00000333194 ssSNP ENST00000340978 ssSNP ENST00000342343 ssSNP ENST00000264917 ssSNP ENST00000264914 nsSNP ENST00000341088 nsSNP ENST00000396151 nsSNP ENST00000396135 ssSNP ENST00000282259 ssSNP ENST00000396137 ssSNP L TCG S ENST00000265077 ssSNP ENST00000421036 ssSNP ENST00000348134 ssSNP ENST00000342785 ssSNP ENST00000343200 ssSNP ENST00000283109 nsSNP chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 111547639 EPB41L4A CDS rs1560058 T ENST00000359109 ENSG00000129595 111573544 nsSNP 111547639 EPB41L4A CDS rs1560058 T ENST00000261486 ENSG00000129595 111782633 nsSNP 112203669 APC CDS rs41115 G A ENSG00000134982 112118487 2520 ACG T 112203669 APC CDS rs41115 G A ENSG00000134982 112118487 2520 ACG T 112203669 APC CDS rs41115 G A ENSG00000134982 112118487 2520 ACG T 122710247 CEP120 CDS rs1047438 A ENST00000306481 ENSG00000168944 122786589 ssSNP 122710247 CEP120 CDS rs1047438 A ENST00000328236 ENSG00000168944 122786589 ssSNP 122710247 CEP120 CDS rs1047438 A ENST00000306467 ENSG00000168944 122786589 ssSNP 132126141 8-Sep CDS rs30510 A G ENSG00000164402 132140726 66 AAT N 132126141 8-Sep CDS rs30510 A G ENSG00000164402 132140726 66 AAT N 132126141 8-Sep CDS rs30510 A G ENSG00000164402 132127979 66 AAT N 132126141 8-Sep CDS rs30510 A G ENSG00000164402 132140726 66 AAT N 132126141 8-Sep CDS rs30510 A G ENSG00000164402 132140726 66 AAT N 132126141 8-Sep CDS rs30510 A G ENSG00000164402 132140726 66 AAT N 132126141 8-Sep CDS rs30510 A G ENSG00000164402 132127979 66 AAT N 132126141 8-Sep CDS rs30510 A G ENSG00000164402 132140726 66 AAT N 132126141 8-Sep CDS rs30510 A G ENSG00000164402 132140726 66 AAT N 137920069 HSPA9 CDS rs10117 G A ENSG00000113013 137938904 29 CTG L 140162076 PCDHA3 CDS rs3733707 T ENST00000378129 ENSG00000204968 140160967 ssSNP 140287468 PCDHAC1 CDS rs155361 G ENST00000409700 ENSG00000081842 140286662 ssSNP 140287468 PCDHAC1 CDS rs155361 G ENST00000253807 ENSG00000081842 140286662 ssSNP 140533765 PCDHB7 CDS rs2910313 G ENST00000231137 ENSG00000113212 140532601 nsSNP 140561694 PCDHB11 CDS rs638054 G ENST00000354757 ENSG00000197479 140559532 ssSNP 140837982 PCDHGC3 CDS rs1423148 T ENST00000308177 ENSG00000240184 140835868 ssSNP C 27 AAC N AGC S C 27 AAC N AGC S + ACA + ACA + ACA G 99 T T T GAT ENST00000457016 ssSNP ENST00000395617 ssSNP ENST00000257430 ssSNP D GAC D G 99 GAT D GAC D G 99 GAT D GAC D AAC AAC AAC AAC AAC AAC AAC AAC AAC TTG C 1109 N N N N N N N N N L + GCT ENST00000378719 ssSNP ENST00000378721 ssSNP ENST00000448933 ssSNP ENST00000412572 ssSNP ENST00000296873 ssSNP ENST00000378706 ssSNP ENST00000378699 ssSNP ENST00000378701 ssSNP ENST00000458488 ssSNP ENST00000297185 ssSNP A GCC A A 827 + CAG Q CAA Q A 806 + CAG Q CAA Q C 1246 + GTC V CTC L T 259 + TCG S TCT S C 315 + TTT F TTC F chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr5 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 140999294 RELL2 CDS rs14251 C A + ENSG00000164620 140997977 79 CTC L ATC 140999294 RELL2 CDS rs14251 C A + ENSG00000164620 140997977 79 CTC L ATC 149899932 NDST1 CDS rs1290147 G C + ENSG00000070614 149881010 87 ACG T ACC 150905337 FAT2 CDS rs3797875 A G ENSG00000086570 150928683 754 CCT P CCC 150923112 FAT2 CDS rs6872614 A G ENSG00000086570 150928683 33 TAC Y CAC 151752010 NMUR2 CDS rs1363422 C T ENSG00000132911 151764865 245 GCA A ACA 156309281 TIMD4 CDS rs6873053 A G ENSG00000145850 156322785 39 GTT V GCT 156309281 TIMD4 CDS rs6873053 A G ENSG00000145850 156322785 39 GTT V GCT 158137003 EBF1 CDS rs1368298 A G ENSG00000164330 158459062 4 TAT Y TAC 158137003 EBF1 CDS rs1368298 A G ENSG00000164330 158459062 4 TAT Y TAC 161061339 GABRA6 CDS rs59972945:rs4277944 ENST00000274545 ENSG00000145863 161045574 257 ssSNP 167876405 RARS CDS rs653568 G A + ENSG00000113643 167846082 44 GCG A GCA 169062000 DOCK2 CDS rs2306559 A G + ENSG00000134516 169061974 9 AAA K AAG 169062000 DOCK2 CDS rs2306559 A G + ENSG00000134516 168996909 9 AAA K AAG 174801446 DRD1 CDS rs155417 T C ENSG00000184845 174802706 1165 TCA S TCG 174801446 DRD1 CDS rs155417 T C ENSG00000184845 174802706 803 TCA S TCG 178439675 ZNF354C CDS rs1445846 T C ENST00000315475 ENSG00000177932 178421676 1385 nsSNP 2904512 SERPINB6 CDS rs2236277 C T ENST00000380500 ENSG00000124570 NSCF 19 * * 2904512 SERPINB6 CDS rs2236277 C T ENST00000380546 ENSG00000124570 2904563 63 ssSNP 2904512 SERPINB6 CDS rs2236277 C T ENST00000380539 ENSG00000124570 2904563 63 ssSNP 2904512 SERPINB6 CDS rs2236277 C T ENST00000380529 ENSG00000124570 2904563 63 ssSNP 2904512 SERPINB6 CDS rs2236277 C T ENST00000380520 ENSG00000124570 2904563 111 ssSNP 2904512 SERPINB6 CDS rs2236277 C T ENST00000335686 ENSG00000124570 2904563 63 ssSNP 2904512 SERPINB6 CDS rs2236277 C T ENST00000380524 ENSG00000124570 2904563 63 ssSNP 2904512 SERPINB6 CDS rs2236277 C T ENST00000316782 ENSG00000124570 2911719 63 I I T P H T A A Y Y C GTC A K K S S + TTT ENST00000444782 nsSNP ENST00000297164 nsSNP ENST00000261797 ssSNP ENST00000261800 ssSNP ENST00000261800 nsSNP ENST00000255262 nsSNP ENST00000274532 nsSNP ENST00000407087 nsSNP ENST00000313708 ssSNP ENST00000380654 ssSNP G + V GTG V ENST00000231572 ssSNP ENST00000343291 ssSNP ENST00000256935 ssSNP ENST00000393752 ssSNP ENST00000329144 ssSNP F CTT L * * * * ACG T ACA T ACG T ACA T ACG T ACA T ACG T ACA T ACG T ACA T ACG T ACA T ACG T ACA T chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 chr6 ssSNP 2904512 SERPINB6 CDS rs2236277 C T ENST00000440670 ENSG00000124570 2904563 63 ssSNP 4680070 CDYL CDS rs28360500 C G + ENSG00000153046 4661012 7 GCT A GGT 7508982 DSP CDS rs2806234 T G + ENSG00000096696 7487148 14 GCT A GCG 7508982 DSP CDS rs2806234 T G + ENSG00000096696 7487148 14 GCT A GCG 7517261 DSP CDS rs2076304 A G + ENSG00000096696 7487148 39 GGA G GGG 7517261 DSP CDS rs2076304 A G + ENSG00000096696 7487148 39 GGA G GGG 10695024 GCNT2 CDS rs539351 C G + ENSG00000111846 10694209 109 GAC D GAG 11063394 SYCP2L CDS rs61055884:rs1225746 ENST00000283141 ENSG00000153157 10995346 42 nsSNP 18507729 RNF144B CDS rs2296198 T C ENST00000397236 ENSG00000137393 NSCF 20 * * 24313215 DCDC2 CDS rs9467075 G A ENSG00000146038 24313488 6 GTC V GTT 24313215 DCDC2 CDS rs9467075 G A ENSG00000146038 24465955 6 GTC V GTT 24545424 GPLD1 CDS rs1772256 G A ENSG00000112293 24597716 72 ACA T ATA 26141485 HIST1H2AB CDS rs2230655 G A ENST00000259791 ENSG00000137259 26141773 186 ssSNP 26393539 HIST1H4H CDS rs57936257:rs2393592 ENST00000289352 ENSG00000158406 26393704 202 ssSNP 26393539 HIST1H4H CDS rs57936257:rs2393592 ENST00000377727 ENSG00000158406 26393704 177 ssSNP 26613341 BTN1A1 CDS rs3736781 G A ENST00000244513 ENSG00000124557 26609494 72 nsSNP 26613341 BTN1A1 CDS rs3736781 G A ENST00000377586 ENSG00...
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