Table 2.
Selection of the coding variants.
| Trait | Locus | Variants in the coding region | Observations ≤ 5% | Predicted to be damaging | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Synonymous | Missense | Stop | Splice | Total | Missense | Stop | Splice | Missense | Stop | Splice | Genes | ||
| QT | 1 | 3110 | 5089 | 117 | 36 | 8353 | 660 | 0 | 4 | 207 | 2 | 0 | DENND2C, RWDD3, FCER1A, GPR25, CD1C, OMA1, LIX1L, LRRC8B, TPR, HOOK1, GTF2B, TXNIP, DDR2, CNN3, RBM15, BCL9, IVNS1ABP TNN, CEPT1, ACOT11, SARS, VAV3, TOMM40L, GABPB2, RFX5, ETV3L, APOBEC4, KIAA1614 ASPM, SPRR3, CEP350, C1orf168 COL24A1, SEMA6C, C1orf49, CACNA1S, IVL, VSIG8, EDEM3, HMCN1, TBX19, GLRX2, IFI16, PODN, INADL, MPL, HYI, CAPZA1, AMIGO1, HCN3, RTCD1, OR10J1, FLG, DMRTB1, SPTA1, HFM1, CFHR2, FCRL2, NCF2, CHIA, RBMXL1, C8A, SGIP1, FMO4, GBP1, CELSR2, ODF2L, PEAR1, FCRL1, SLC44A5, UROD, MOBKL2C, LRRC7, LRRC8C, IPO9, PRPF38B, MSH4, KIFAP3, LAMC2, PAQR6, ZNF687, MIER1, SMG7, TMEM61, ALX3, FAM189B, PDE4DIP, ATPAF1, C1orf50, PRRC2C, ZNF281, IGSF3, CRCT1, UQCRH, SLC27A3, NPHS2, PKLR, ATP1A4, TMEM125, TNR, OVGP1, SHCBP1L, UHMK1, B4GALT2 RNF220, PIAS3, KIF2C, TARS2, TMEM59, PIGK, CMPK1, PIK3R3, METTL11B CITED4, EFCAB7, TTF2, AXDND1, DDX20, IGSF9, LEPRE1, ADAMTSL4 WDR77, GNAT2, GPSM2, PPM1J, ABCA4, EXTL2, AP4B1, HIVEP3, UBQLN4, POLR3C, NEGR1, TBX15, GBP6, KIAA1324 DPYD, F5, GJA5, CYP4A22, HENMT1, MRPL37, TDRD5, ZBTB7B, SPATA6, FCRLB, ABL2, ZFYVE9, LAMC1, RHBG, DUSP12, ZYG11A, WDR3, FAAH, C1orf106 HSD3B1, CTSS, TRIM45, ALG6, ACP6, PRUNE, TRIM46, AGL, MAGI3, C1orf27, AL359075.1 SLC5A9, EBNA1BP2, COL11A1, FGGY, AMPD1, FAM63A, GLT25D2, DMRTA2, EVI5, DPT, OR6P1 |
| 2 | 1662 | 2444 | 40 | 17 | 4165 | 328 | 0 | 2 | 113 | 2 | 0 | CRYGA, TTN, ARMC9, GTF3C3, ADAM23, ZFAND2B, PER2, COL6A3, TNS1, PAX3, HDAC4, OBSL1, CAPN10, IGFBP5, TMEM198, ESPNL, SPAG16, COL4A3, ANKAR, NEUROD1, NOP58, DNAH7, IQCA1, CCDC141, KIF1A, CASP10, SSFA2, CRYGC, ECEL1, AP1S3, COL5A2, NDUFS1, ATF2, STK36, UNC80, ABCB6, KIAA1486, ANKMY1, C2orf67, PLEKHM3, CNPPD1, ALPP, EFHD1, ZSWIM2, C2orf62, AQP12B, WIPF1, PDE11A, GLB1L, CCDC150, DGKD, SERPINE2, ABCA12, ITGAV, IDH1, SPHKAP, FN1, CDK15, GPR35, WNT10A, CYP27A1, ACSL3, ANKZF1, DNAJC10, FBXO36, STK16, MYO1B, KLHL30, PIKFYVE, DES, ASNSD1 | |
| QRS | 1 | 1057 | 1446 | 25 | 17 | 2546 | 152 | 1 | 4 | 51 | 1 | 0 | OTUD3, PHC2, SYF2, DHDDS, EPB41, NBPF3, ZBTB40, COL16A1, RAP1GAP, C1orf38, EPHA10, MACF1, PADI4, LDLRAP1, RCC2, AK2, SEPN1, TMCO2, HSPG2, MAP3K6, TMCO4, CCDC28B, TMEM234 GRHL3, ALDH4A1, GJB4, MAN1C1, SERINC2, E2F2, MUL1, PHACTR4, MYOM3, SRRM1, RLF, TINAGL1, KIAA0319L, C1orf94, C1orf63, UBXN11, USP48 |
| PR | 9 | 375 | 656 | 8 | 5 | 1053 | 96 | 0 | 0 | 29 | 0 | 0 | DENND4C, CA9, FRMPD1, PLIN2, CCIN, IFT74, UBAP1, IFNA10, RECK, UNC13B, GRHPR, KIAA1045, FREM1, OR2S2, IFNA14, FAM154A, KIAA1797, RGP1, ALDH1B1, NOL6, (GALT; GALT; RP11-195F19.29), PTPLAD2, DDX58 |
| 14 | 440 | 792 | 24 | 6 | 1276 | 86 | 0 | 1 | 31 | 1 | 0 | HEATR5A, RABGGTA, LRRC16B, RBM23, CMA1, SUPT16H, MMP14, PARP2, CEBPE, OR4K1, PRKD1, LRRC16B, MYH6, PSMB11, HEATR5A, LRP10, LRRC16B, TTC5, OR10G3, OR4N5, MYH6, TEP1, SDR39U1, TEP1, SLC7A7, LRP10, TEP1, ADCY4, (AL163636.2;AL163636.2;AL163636.2;RNASE4;RNASE4; RNASE4), PCK2, ARHGEF40, KLHL33 | |
Overview of variants predicted to be damaging for each trait with a frequency or less than 5%.