Chr | Position | Ref | Sample | Type | Cytoband | Gene | Translation impact | dbSNP ID | 1000 genomes | CG public genomes |
---|---|---|---|---|---|---|---|---|---|---|
1 | 1650787 | T | C | SNV | 1p36.33 | CDK11B; CDK11A | Missense | 1137003 | Â | 28.7 |
1 | 1650797 | A | G | SNV | 1p36.33 | CDK11B; CDK11A | Missense | 1059830 | Â | 31.48 |
1 | 1650801 | T | C | SNV | 1p36.33 | CDK11B; CDK11A | Synonymous | 1137004 | Â | 31.48 |
1 | 13183225 | T | C | SNV | 1p36.21 | HNRNPCL1/HNRNPCL2 | Synonymous | 28634306 | Â | Â |
1 | 13183228 | C | T | SNV | 1p36.21 | HNRNPCL1/HNRNPCL2 | Synonymous | 144054379 | Â | Â |
1 | 13183237 | CT | TC | Sub | 1p36.21 | HNRNPCL1/HNRNPCL2 | In-frame | Â | Â | Â |
1 | 13183243 | T | C | SNV | 1p36.21 | HNRNPCL1/HNRNPCL2 | Synonymous | 138897759 | Â | Â |
1 | 13183248 | TC | AA | Sub | 1p36.21 | HNRNPCL1/HNRNPCL2 | In-frame | Â | Â | Â |
1 | 17266536 | G | C | SNV | 1p36.13 | CROCC | Missense | 9435714 | Â | 10.18 |
1 | 62675619 | C | T | SNV | 1p31.3 | L1TD1 | Synonymous | 4625314 | 29.85 | 33.33 |
1 | 109007867 | G | A | SNV | 1p13.3 | NBPF4/NBPF6 | Missense | Â | Â | 26.85 |
1 | 109007877 | T | G | SNV | 1p13.3 | NBPF4/NBPF6 | Synonymous | Â | Â | 26.85 |
1 | 109737063 | C | T | SNV | 1p13.3 | KIAA1324 | Synonymous | 386565601 | 71.37 | 68.51 |
1 | 109737090 | G | A | SNV | 1p13.3 | KIAA1324 | Synonymous | 386565600 | 71.53 | 67.59 |
1 | 111957583 | A | G | SNV | 1p13.2 | OVGP1 | Missense | 1126656 | Â | 3.7 |
1 | 111957592 | A | G | SNV | 1p13.2 | OVGP1 | Missense | 56294468 | 22.32 | 3.7 |
1 | 120539742 | G | A | SNV | 1p12 | NOTCH2 | Missense | 2258139 | Â | Â |
1 | 120548025 | G | A | SNV | 1p12 | NOTCH2 | Synonymous | 140551270 | Â | Â |
1 | 120548055 | T | C | SNV | 1p12 | NOTCH2 | Synonymous | 199592384 | Â | Â |
1 | 144873963 | T | Â | Del | 1q21.1 | PDE4DIP | Frame shift | Â | 28.91 | 32.4 |
1 | 144922523 | C | T | SNV | 1q21.1 | PDE4DIP | Missense | 2455994 | Â | 28.7 |
1 | 145103928 | G | A | SNV | 1q21.1 | SEC22B | Synonymous | 2596251 | 34.01 | 35.18 |
1 | 201178819 | G | A | SNV | 1q32.1 | IGFN1 | Missense | 72468019 | Â | 11.11 |
1 | 206566904 | T | C | SNV | 1q32.1 | SRGAP2B; SRGAP2D; SRGAP2; SRGAP2C | Synonymous | 2919105 | 49.44 | Â |
1 | 248813827 | T | C | SNV | 1q44 | OR2T27 | Missense | 1782241 | Â | Â |
2 | 132238043 | A | C | SNV | 2q21.1 | TUBA3C/TUBA3D | Synonymous | 74625243 | Â | 14.81 |
3 | 75786499 | CA | TG | Sub | 3p12.3 | ZNF717 | In-frame | Â | Â | 0.92 |
3 | 75786515 | GG | AT | Sub | 3p12.3 | ZNF717 | In-frame | Â | 0.92 | Â |
3 | 75787265 | C | G | SNV | 3p12.3 | ZNF717 | Synonymous | 144538707 | Â | Â |
3 | 75787269 | G | T | SNV | 3p12.3 | ZNF717 | Missense | Â | Â | Â |
3 | 75788023 | C | T | SNV | 3p12.3 | ZNF717 | Missense | 76889571 | Â | 50 |
3 | 100170634 | T | C | SNV | 3q12.2 | LNP1 | Synonymous | 9848109 | Â | 24.07 |
3 | 195510827 | C | T | SNV | 3q29 | MUC4 | Missense | 413807 | 3.53 | 24.07 |
3 | 195511780 | G | A | SNV | 3q29 | MUC4 | Missense | 391928 | Â | Â |
5 | 140725160 | Â | A | Insertion | 5q31.3 | PCDHGA3; PCDHGA2; PCDHGA1 | Frame shift | 372306793 | Â | Â |
6 | 26406255 | G | A | SNV | 6p22.2 | BTN3A1 | Synonymous | 3857550 | Â | 41.66 |
6 | 33037579 | AT | TG | Sub | 6p21.32 | HLA-DPA1 | In-frame | 386699858 | Â | 37.96 |
6 | 33052986 | T | C | SNV | 6p21.32 | HLA-DPB1 | Synonymous | Â | 46.37 | 37.03 |
7 | 100550039 | Â | CTC | Ins | 7q22.1 | MUC3A | In-frame | Â | Â | Â |
7 | 142460313 | T | C | SNV | 7q34 | PRSS1 | Synonymous | 6666 | 39.66 | 24.07 |
7 | 142460335 | A | G | SNV | 7q34 | PRSS1 | Missense | 201550522 | 0.16 | Â |
8 | 10467652 | GC | CT | Sub | 8p23.1 | RP1L1 | In-frame | 386722180 | Â | Â |
8 | 103573011 | TGCAACCCCTGCAGCCCCTGCAACCCG | Del | 8q22.3 | ODF1 | In-frame | Â | 31.29 | 23.14 | |
11 | 1016776 | C | T | SNV | 11p15.5 | MUC6 | Missense | 33988517 | Â | 38.88 |
11 | 1017110 | CGGT | TGCC | Sub | 11p15.5 | MUC6 | In-frame | Â | Â | 32.4 |
11 | 1018069 | G | A | SNV | 11p15.5 | MUC6 | Missense | 10736904 | Â | Â |
11 | 1018090 | G | Â | Del | 11p15.5 | MUC6 | Frame shift | Â | Â | Â |
11 | 1018095 | G | TA | Sub | 11p15.5 | MUC6 | Frame shift | Â | Â | Â |
11 | 1092684 | C | T | SNV | 11p15.5 | MUC2 | Synonymous | 201269049 | Â | Â |
11 | 5270686 | G | A | SNV | 11p15.4 | HBG1 | Missense | 1061234 | Â | 75.92 |
11 | 18290866 | T | C | SNV | 11p15.1 | SAA1 | Synonymous | 1136745 | Â | Â |
11 | 48346916 | G | C | SNV | 11p11.2 | OR4C3 | Missense | 77069283 | Â | Â |
11 | 48346924 | T | C | SNV | 11p11.2 | OR4C3 | Synonymous | 72911454 | Â | Â |
11 | 48346932 | G | A | SNV | 11p11.2 | OR4C3 | Missense | 80285195 | 0.28 | Â |
11 | 48347306 | G | T | SNV | 11p11.2 | OR4C3 | Missense | 73465911 | Â | 33.33 |
11 | 48367052 | Â | AG | Ins | 11p11.2 | OR4C45 | Frame shift | Â | Â | Â |
11 | 48367073 | A | C | SNV | 11p11.2 | OR4C45 | Missense | 7941588 | 79.55 | 75 |
11 | 56143357 | G | A | SNV | 11q12.1 | OR8U1; OR8U8 | Synonymous | 76949582 | Â | 36.11 |
11 | 56143963 | AATCTATAGC | GATTTACAGT | Sub | 11q12.1 | OR8U1; OR8U8 | Synonymous | Â | Â | Â |
11 | 56468020 | T | C | SNV | 11q12.1 | OR9G1; OR9G9 | Missense | 532637 | 41.21 | 56.48 |
11 | 57982726 | G | T | SNV | 11q12.1 | OR1S1 | Synonymous | 1993089 | 52.32 | 52.77 |
11 | 57982763 | A | G | SNV | 11q12.1 | OR1S1 | Missense | 61763008 | Â | 50.92 |
11 | 89703619 | G | A | SNV | 11q14.3 | TRIM64/TRIM64B | Missense | 79824618 | Â | 77.77 |
11 | 89819403 | G | T | SNV | 11q14.3 | UBTFL1 | Missense | Â | Â | Â |
12 | 11214857 | T | C | SNV | 12p13.2 | TAS2R46; PRH1 | Missense | 201891491 | Â | Â |
12 | 11214870 | A | T | SNV | 12p13.2 | TAS2R46; PRH1 | Synonymous | 200226376 | Â | Â |
12 | 11244721 | GAA | CAC | Sub | 12p13.2 | TAS2R43; PRH1 | In-frame | Â | Â | 19.44 |
12 | 11244730 | AA | GG | Sub | 12p13.2 | TAS2R43; PRH1 | In-frame | Â | Â | 18.51 |
12 | 49522578 | T | C | SNV | 12q13.12 | TUBA1B | Synonymous | 1057725 | 54.49 | Â |
12 | 49522605 | C | T | SNV | 12q13.12 | TUBA1B | Synonymous | 1057548 | 45.33 | Â |
12 | 52843610 | C | A | SNV | 12q13.13 | KRT6B | Missense | Â | Â | Â |
13 | 46170724 | ATACTCTTCCTCCTCCAG | Del | 13q14.13 | ERICH6B | In-frame | Â | Â | Â | |
13 | 53216666 | G | A | SNV | 13q14.3 | HNRNPA1L2 | Synonymous | 113869751 | 1.08 | 1.85 |
13 | 103399222 | G | T | SNV | 13q33.1 | CCDC168 | Stop gain | Â | Â | 25 |
18 | 9887394 | C | T | SNV | 18p11.22 | TXNDC2 | Synonymous | 2240910 | 51.84 | Â |
19 | 4511197 | G | A | SNV | 19p13.3 | PLIN4 | Synonymous | 199625614 | Â | Â |
19 | 4511200 | C | T | SNV | 19p13.3 | PLIN4 | Synonymous | 200718202 | 0.14 | Â |
19 | 55286854 | A | G | SNV | 19q13.42 | KIR2DL1/KIR2DL3 | Missense | 666590 | 0.08 | Â |
19 | 55286864 | A | C | SNV | 19q13.42 | KIR2DL1/KIR2DL3 | Synonymous | 77397437 | 16.63 | Â |
21 | 10942923 | G | A | SNV | 21p11.1 | TPTE | Missense | 76723236 | Â | 7.4 |
22 | 38120180 | CTC | Â | Del | 22q13.1 | TRIOBP | In-frame | Â | Â | Â |
22 | 39387558 | C | T | SNV | 22q13.1 | APOBEC3A_B; APOBEC3B | Synonymous | 1065184 | Â | Â |