Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 55268 |
| ensemblid | ENSG00000121310.17 |
| hgncid | 23408 |
| symbol | ECHDC2 |
| name | enoyl-CoA hydratase domain containing 2 |
| refseq_nuc | NM_001198961.2 |
| refseq_prot | NP_001185890.1 |
| ensembl_nuc | ENST00000371522.9 |
| ensembl_prot | ENSP00000360577.4 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 52895910 |
| end | 52921740 |
| strand | - |
| ver | v1.2 |
| region | chr1:52895910-52921740 |
| region5000 | chr1:52890910-52926740 |
| regionname0 | ECHDC2_chr1_52895910_52921740 |
| regionname5000 | ECHDC2_chr1_52890910_52926740 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 292 | 309 | 85 | 50 | 134 | 6 | 32 | 106 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | MLRVL others(287): Show |
chr1 | 52890910 | 52926740 |
| a0002 | 0/0 | 292 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | MLRVL others(287): Show |
chr1 | 52890910 | 52926740 |
| a0003 | 0/0 | 292 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | MLRVL others(287): Show |
chr1 | 52890910 | 52926740 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 876 | 306 | 83 | 49 | 134 | 6 | 32 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | ATGCT others(871): Show |
chr1 | 52890910 | 52926740 | ||
| a0001c0002 | 0/0 | 876 | 3 | 2 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | ATGCT others(871): Show |
chr1 | 52890910 | 52926740 | ||
| a0002c0003 | 0/0 | 876 | 3 | 3 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | ATGCT others(871): Show |
chr1 | 52890910 | 52926740 | ||
| a0003c0004 | 0/0 | 876 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | ATGCT others(871): Show |
chr1 | 52890910 | 52926740 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 1556 | 205 | 28 | 30 | 124 | 4 | 18 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | GAGCT others(1551): Show |
chr1 | 52890910 | 52926740 |
| a0001c0001t0002 | 0/1 | 1556 | 43 | 15 | 13 | 2 | 2 | 10 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | GAGCT others(1551): Show |
chr1 | 52890910 | 52926740 |
| a0001c0001t0003 | 0/0 | 1556 | 30 | 12 | 6 | 8 | 0 | 4 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | GAGCT others(1551): Show |
chr1 | 52890910 | 52926740 |
| a0001c0001t0004 | 0/0 | 1556 | 19 | 19 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | GAGCT others(1551): Show |
chr1 | 52890910 | 52926740 |
| a0001c0001t0005 | 0/0 | 1556 | 8 | 8 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | GAGCT others(1551): Show |
chr1 | 52890910 | 52926740 |
| a0001c0001t0006 | 0/0 | 1556 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | GAGCT others(1551): Show |
chr1 | 52890910 | 52926740 |
| a0001c0002t0001 | 0/0 | 1556 | 3 | 2 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | GAGCT others(1551): Show |
chr1 | 52890910 | 52926740 |
| a0002c0003t0001 | 0/0 | 1556 | 3 | 3 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | GAGCT others(1551): Show |
chr1 | 52890910 | 52926740 |
| a0003c0004t0001 | 0/0 | 1556 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | GAGCT others(1551): Show |
chr1 | 52890910 | 52926740 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 1/0 | 19 | 1 | 3 | 10 | 1 | 3 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0002 | 0/0 | 18 | 0 | 0 | 18 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0003 | 0/0 | 16 | 0 | 0 | 14 | 0 | 2 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0006 | 0/0 | 5 | 0 | 0 | 4 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0007 | 0/0 | 5 | 0 | 1 | 4 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0009 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0014 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0015 | 0/0 | 3 | 0 | 1 | 0 | 1 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0016 | 0/0 | 3 | 1 | 1 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0017 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0018 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0019 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0021 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0022 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0023 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0024 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0025 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0026 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0027 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0028 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0029 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0030 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0031 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0032 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0033 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0034 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0035 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0004 | 0/0 | 10 | 0 | 5 | 0 | 0 | 5 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0013 | 0/0 | 4 | 0 | 2 | 1 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0037 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0038 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0165 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0172 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0002g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0005 | 0/0 | 9 | 0 | 3 | 3 | 0 | 3 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0012 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0003g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0010 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0011 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0004g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0005g0008 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0005g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0005g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0005g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0001t0006g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0001c0002t0001g0020 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0002c0003t0001g0036 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0002c0003t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0003c0004t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| a0003c0004t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0002 | g0174 | EUR | GBR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0110 | EUR | FIN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0015 | EUR | FIN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0054 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0098 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | CHS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0145 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0004 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00642 | hp2 | a0001 | c0001 | t0003 | g0005 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00735 | hp2 | a0001 | c0001 | t0003 | g0156 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0004 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00741 | hp1 | a0001 | c0001 | t0002 | g0037 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0115 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0021 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0086 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0083 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01106 | hp2 | a0001 | c0001 | t0002 | g0038 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01109 | hp1 | a0001 | c0002 | t0001 | g0020 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0138 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01167 | hp1 | a0001 | c0001 | t0002 | g0161 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0047 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0035 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01175 | hp2 | a0001 | c0001 | t0002 | g0004 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0013 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01192 | hp2 | a0001 | c0001 | t0003 | g0154 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0016 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0056 | AMR | PUR | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0017 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0026 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0032 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0032 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0037 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01261 | hp1 | a0001 | c0001 | t0002 | g0013 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01261 | hp2 | a0001 | c0001 | t0003 | g0146 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0004 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01358 | hp1 | a0001 | c0001 | t0002 | g0170 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01433 | hp1 | a0001 | c0001 | t0003 | g0005 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01433 | hp2 | a0001 | c0001 | t0002 | g0038 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0096 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0021 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01515 | hp1 | a0001 | c0001 | t0002 | g0165 | EUR | IBS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0076 | EUR | IBS | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01884 | hp1 | a0001 | c0001 | t0004 | g0136 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01884 | hp2 | a0001 | c0001 | t0002 | g0169 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01891 | hp1 | a0001 | c0001 | t0004 | g0010 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0024 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0033 | AMR | PEL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0097 | AMR | PEL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PEL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0114 | AMR | PEL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01993 | hp1 | a0001 | c0001 | t0003 | g0005 | AMR | PEL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0021 | AMR | PEL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | KHV | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02055 | hp2 | a0001 | c0001 | t0004 | g0134 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02056 | hp1 | a0001 | c0001 | t0002 | g0013 | EAS | KHV | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | KHV | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | KHV | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02145 | hp1 | a0001 | c0001 | t0006 | g0144 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02145 | hp2 | a0001 | c0001 | t0002 | g0175 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CDX | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CDX | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | CDX | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | CDX | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0042 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0034 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02258 | hp1 | a0001 | c0001 | t0003 | g0147 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02258 | hp2 | a0001 | c0002 | t0001 | g0020 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02280 | hp1 | a0001 | c0001 | t0005 | g0008 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02280 | hp2 | a0001 | c0001 | t0002 | g0182 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0022 | AMR | PEL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0029 | AMR | PEL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0035 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02572 | hp1 | a0001 | c0001 | t0005 | g0008 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02572 | hp2 | a0001 | c0001 | t0004 | g0011 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02602 | hp1 | a0001 | c0001 | t0002 | g0171 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02602 | hp2 | a0001 | c0001 | t0003 | g0005 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02622 | hp1 | a0001 | c0001 | t0004 | g0011 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02622 | hp2 | a0001 | c0001 | t0002 | g0176 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02630 | hp1 | a0001 | c0001 | t0004 | g0128 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0168 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02647 | hp1 | a0001 | c0001 | t0003 | g0141 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02647 | hp2 | a0001 | c0001 | t0004 | g0010 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02683 | hp2 | a0001 | c0001 | t0003 | g0150 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0006 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02698 | hp2 | a0001 | c0001 | t0002 | g0004 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02717 | hp1 | a0001 | c0001 | t0005 | g0008 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02717 | hp2 | a0001 | c0001 | t0003 | g0149 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02723 | hp1 | a0001 | c0001 | t0002 | g0180 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02723 | hp2 | a0001 | c0001 | t0004 | g0129 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0075 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0062 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02809 | hp1 | a0001 | c0001 | t0003 | g0153 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02809 | hp2 | a0001 | c0001 | t0002 | g0164 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02818 | hp2 | a0001 | c0001 | t0002 | g0162 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02886 | hp2 | a0001 | c0001 | t0005 | g0008 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02895 | hp1 | a0001 | c0001 | t0004 | g0010 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0118 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02897 | hp1 | a0001 | c0001 | t0004 | g0130 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02897 | hp2 | a0001 | c0001 | t0004 | g0135 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02922 | hp1 | a0001 | c0001 | t0003 | g0012 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02922 | hp2 | a0001 | c0001 | t0002 | g0177 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0119 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02965 | hp2 | a0001 | c0001 | t0003 | g0012 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02970 | hp1 | a0001 | c0001 | t0003 | g0012 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02970 | hp2 | a0001 | c0001 | t0004 | g0127 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0167 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0015 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03098 | hp1 | a0001 | c0001 | t0003 | g0155 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03098 | hp2 | a0001 | c0001 | t0005 | g0183 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03130 | hp1 | a0001 | c0001 | t0002 | g0163 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03130 | hp2 | a0002 | c0003 | t0001 | g0036 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0117 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03139 | hp2 | a0003 | c0004 | t0001 | g0124 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03195 | hp1 | a0001 | c0001 | t0002 | g0181 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03209 | hp1 | a0001 | c0001 | t0005 | g0008 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03209 | hp2 | a0001 | c0001 | t0003 | g0140 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03225 | hp1 | a0001 | c0001 | t0003 | g0151 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0034 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0026 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0004 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03453 | hp1 | a0002 | c0003 | t0001 | g0036 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03453 | hp2 | a0001 | c0001 | t0003 | g0157 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03486 | hp1 | a0001 | c0001 | t0005 | g0185 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03486 | hp2 | a0001 | c0001 | t0004 | g0133 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03516 | hp1 | a0001 | c0001 | t0004 | g0011 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03516 | hp2 | a0001 | c0002 | t0001 | g0020 | AFR | ESN | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0090 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0111 | AFR | GWD | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0024 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03654 | hp2 | a0001 | c0001 | t0002 | g0013 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0094 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0016 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0079 | SAS | STU | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03688 | hp2 | a0001 | c0001 | t0002 | g0004 | SAS | STU | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0068 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03710 | hp2 | a0001 | c0001 | t0002 | g0004 | SAS | PJL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0004 | SAS | BEB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0060 | SAS | BEB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03927 | hp2 | a0001 | c0001 | t0003 | g0005 | SAS | BEB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0066 | SAS | BEB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG04184 | hp2 | a0001 | c0001 | t0002 | g0166 | SAS | BEB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG04199 | hp1 | a0001 | c0001 | t0002 | g0173 | SAS | STU | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG04199 | hp2 | a0001 | c0001 | t0003 | g0005 | SAS | STU | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0100 | SAS | STU | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0137 | SAS | STU | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0070 | EAS | CHB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | CHB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0116 | AFR | YRI | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18906 | hp2 | a0003 | c0004 | t0001 | g0125 | AFR | YRI | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18940 | hp2 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18959 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18962 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18963 | hp1 | a0001 | c0001 | t0003 | g0148 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18989 | hp1 | a0001 | c0001 | t0003 | g0143 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18992 | hp2 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18997 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18997 | hp2 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19004 | hp1 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19006 | hp2 | a0001 | c0001 | t0003 | g0142 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19030 | hp1 | a0001 | c0001 | t0002 | g0179 | AFR | LWK | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | LWK | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0014 | AFR | LWK | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0058 | AFR | LWK | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0073 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19075 | hp2 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19084 | hp1 | a0001 | c0001 | t0003 | g0139 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19089 | hp1 | a0001 | c0001 | t0003 | g0152 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19089 | hp2 | a0001 | c0001 | t0002 | g0158 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19240 | hp1 | a0001 | c0001 | t0004 | g0131 | AFR | YRI | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0057 | AFR | YRI | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA20129 | hp1 | a0001 | c0001 | t0004 | g0123 | AFR | ASW | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA20129 | hp2 | a0001 | c0001 | t0002 | g0159 | AFR | ASW | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG01123 | hp2 | a0001 | c0001 | t0002 | g0004 | AMR | CLM | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02109 | hp2 | a0001 | c0001 | t0004 | g0011 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02486 | hp1 | a0001 | c0001 | t0003 | g0012 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02486 | hp2 | a0001 | c0001 | t0004 | g0010 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02559 | hp1 | a0001 | c0001 | t0005 | g0184 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0084 | AFR | ACB | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0040 | AFR | MSL | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG06807 | hp1 | a0001 | c0001 | t0002 | g0178 | AFR | USA | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| HG06807 | hp2 | a0001 | c0001 | t0002 | g0160 | AFR | USA | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA20300 | hp1 | a0001 | c0001 | t0004 | g0132 | AFR | USA | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | USA | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA21309 | hp1 | a0002 | c0003 | t0001 | g0126 | AFR | LWK | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0109 | AFR | LWK | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0002 | g0172 | REF | REF | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | ECHDC2_chr1_52890910_52926740 | ECHDC2 | chr1 | 52890910 | 52926740 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:52899203 | C | T | 2 | a0002 a0003 |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
missense_variant | MODERATE | c.724G>A | p.Gly242Ser | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/10 | 791/1556 | 724/879 | 242/292 | chr1 | 52899203 | |||
| chr1:52906527 | C | A | 1 | a0002 | 3 | HG03130.hp2 HG03453.hp1 NA21309.hp1 |
missense_variant | MODERATE | c.449G>T | p.Arg150Leu | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/10 | 516/1556 | 449/879 | 150/292 | chr1 | 52906527 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:52905056 | C | T | 1 | a0001c0002 | 3 | HG01109.hp1 HG02258.hp2 HG03516.hp2 |
synonymous_variant | LOW | c.492G>A | p.Thr164Thr | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 6/10 | 559/1556 | 492/879 | 164/292 | chr1 | 52905056 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:52896150 | A | C | 1 | a0001c0001t0005 | 8 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*370T>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 10/10 | 370 | chr1 | 52896150 | ||||||
| chr1:52896256 | A | G | 1 | a0001c0001t0003 | 30 | HG00642.hp2 HG00735.hp2 HG01192.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*264T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 10/10 | 264 | chr1 | 52896256 | ||||||
| chr1:52896451 | C | T | 1 | a0001c0001t0006 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*69G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 10/10 | 69 | chr1 | 52896451 | ||||||
| chr1:52896492 | T | G | 1 | a0001c0001t0004 | 19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*28A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 10/10 | 28 | chr1 | 52896492 | ||||||
| chr1:52921707 | G | C | 2 | a0001c0001t0002 a0001c0001t0005 |
50 | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(47): Show |
5_prime_UTR_variant | MODIFIER | c.-34C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/10 | 34 | chr1 | 52921707 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:52896635 | G | A | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.802-38C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 9/9 | chr1 | 52896635 | |||||||
| chr1:52896824 | C | T | 1 | a0001c0001t0002g0170 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.802-227G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 9/9 | chr1 | 52896824 | |||||||
| chr1:52896860 | TGCCGTCT others(7): Show |
T | 2 | a0001c0001t0001g0046 a0001c0001t0001g0059 |
2 | NA18946.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.802-277_802-264del others(14): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 9/9 | chr1 | 52896860 | |||||||
| chr1:52896925 | C | G | 1 | a0001c0001t0001g0025 | 2 | NA18747.hp1 NA18955.hp2 |
intron_variant | MODIFIER | c.802-328G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 9/9 | chr1 | 52896925 | |||||||
| chr1:52897058 | A | C | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.801+379T>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 9/9 | chr1 | 52897058 | |||||||
| chr1:52897118 | A | G | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.801+319T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 9/9 | chr1 | 52897118 | |||||||
| chr1:52897146 | T | C | 116 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(113): Show |
180 | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(177): Show |
intron_variant | MODIFIER | c.801+291A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 9/9 | chr1 | 52897146 | |||||||
| chr1:52897497 | C | T | 11 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 others(8): Show |
13 | NA18940.hp2 NA18946.hp1 NA18948.hp1 others(10): Show |
intron_variant | MODIFIER | c.754-13G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52897497 | |||||||
| chr1:52897550 | G | GC | 5 | a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show |
6 | HG02055.hp1 HG02257.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.754-67dupG | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52897550 | |||||||
| chr1:52898223 | T | C | 5 | a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show |
6 | HG02055.hp1 HG02257.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.754-739A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898223 | |||||||
| chr1:52898274 | G | C | 4 | a0001c0001t0005g0008 a0001c0001t0005g0183 a0001c0001t0005g0184 others(1): Show |
8 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.754-790C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898274 | |||||||
| chr1:52898275 | C | T | 4 | a0001c0001t0005g0008 a0001c0001t0005g0183 a0001c0001t0005g0184 others(1): Show |
8 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.754-791G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898275 | |||||||
| chr1:52898329 | G | A | 1 | a0001c0001t0002g0169 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.753+845C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898329 | |||||||
| chr1:52898377 | C | T | 20 | a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0037 others(17): Show |
34 | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(31): Show |
intron_variant | MODIFIER | c.753+797G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898377 | |||||||
| chr1:52898509 | G | A | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.753+665C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898509 | |||||||
| chr1:52898511 | G | A | 1 | a0001c0001t0001g0116 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.753+663C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898511 | |||||||
| chr1:52898667 | C | T | 1 | a0001c0001t0001g0026 | 2 | HG01257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.753+507G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898667 | |||||||
| chr1:52898718 | GACTAGAT others(28): Show |
G | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.753+421_753+455del others(35): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898718 | |||||||
| chr1:52898814 | C | T | 1 | a0001c0001t0002g0171 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.753+360G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898814 | |||||||
| chr1:52898818 | G | T | 1 | a0001c0001t0001g0089 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.753+356C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898818 | |||||||
| chr1:52898860 | G | A | 1 | a0001c0001t0001g0115 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.753+314C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898860 | |||||||
| chr1:52898881 | G | A | 2 | a0001c0001t0003g0153 a0001c0001t0003g0155 |
2 | HG02809.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.753+293C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52898881 | |||||||
| chr1:52899029 | G | A | 2 | a0001c0001t0001g0014 a0001c0001t0001g0042 |
4 | HG02257.hp1 HG03195.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.753+145C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52899029 | |||||||
| chr1:52899094 | G | GCTGT | 5 | a0001c0001t0001g0040 a0002c0003t0001g0036 a0002c0003t0001g0126 others(2): Show |
6 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.753+76_753+79dupAC others(2): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52899094 | |||||||
| chr1:52899118 | T | C | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.753+56A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52899118 | |||||||
| chr1:52899140 | A | G | 1 | a0001c0001t0004g0131 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.753+34T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | 52899140 | |||||||
| chr1:52899236 | CAA | C | 52 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(49): Show |
85 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(82): Show |
intron_variant | MODIFIER | c.703-14_703-13delTT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899236 | |||||||
| chr1:52899304 | A | G | 115 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(112): Show |
179 | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(176): Show |
intron_variant | MODIFIER | c.703-80T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899304 | |||||||
| chr1:52899416 | A | G | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.703-192T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899416 | |||||||
| chr1:52899432 | A | G | 21 | a0001c0001t0001g0145 a0001c0001t0003g0005 a0001c0001t0003g0012 others(18): Show |
32 | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.703-208T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899432 | |||||||
| chr1:52899459 | A | G | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.703-235T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899459 | |||||||
| chr1:52899563 | G | C | 110 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(107): Show |
173 | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(170): Show |
intron_variant | MODIFIER | c.703-339C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899563 | |||||||
| chr1:52899592 | T | C | 2 | a0001c0001t0001g0067 a0001c0001t0001g0069 |
2 | NA18982.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.703-368A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899592 | |||||||
| chr1:52899809 | A | G | 116 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(113): Show |
180 | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(177): Show |
intron_variant | MODIFIER | c.703-585T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899809 | |||||||
| chr1:52899821 | C | T | 37 | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0056 others(34): Show |
56 | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(53): Show |
intron_variant | MODIFIER | c.703-597G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899821 | |||||||
| chr1:52899899 | A | G | 12 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(9): Show |
18 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.703-675T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899899 | |||||||
| chr1:52899991 | C | CA | 31 | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0046 others(28): Show |
41 | HG00423.hp2 HG00639.hp1 HG00735.hp2 others(38): Show |
intron_variant | MODIFIER | c.703-768dupT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899991 | |||||||
| chr1:52899991 | CA | C | 9 | a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0042 others(6): Show |
14 | HG00741.hp1 HG01257.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.703-768delT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52899991 | |||||||
| chr1:52900024 | A | G | 1 | a0001c0001t0001g0088 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.703-800T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52900024 | |||||||
| chr1:52900160 | C | T | 1 | a0001c0001t0002g0159 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.703-936G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52900160 | |||||||
| chr1:52900569 | CATATGTG others(4): Show |
C | 1 | a0001c0001t0002g0164 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.703-1356_703-1346d others(13): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52900569 | |||||||
| chr1:52900769 | A | G | 1 | a0001c0001t0001g0091 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.703-1545T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52900769 | |||||||
| chr1:52900893 | C | T | 1 | a0001c0001t0002g0178 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.703-1669G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52900893 | |||||||
| chr1:52900980 | G | A | 1 | a0001c0001t0001g0026 | 2 | HG01257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.703-1756C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52900980 | |||||||
| chr1:52901098 | C | T | 1 | a0001c0001t0001g0116 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.703-1874G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901098 | |||||||
| chr1:52901152 | T | A | 2 | a0001c0001t0001g0090 a0001c0002t0001g0020 |
4 | HG01109.hp1 HG02258.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.703-1928A>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901152 | |||||||
| chr1:52901159 | A | AAAAT | 19 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0031 others(16): Show |
26 | HG00621.hp1 HG00621.hp2 HG01255.hp1 others(23): Show |
intron_variant | MODIFIER | c.703-1939_703-1936d others(6): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901159 | |||||||
| chr1:52901159 | AAAAT | A | 70 | a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0035 others(67): Show |
107 | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(104): Show |
intron_variant | MODIFIER | c.703-1939_703-1936d others(6): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901159 | |||||||
| chr1:52901159 | AAAATAAA others(1): Show |
A | 7 | a0001c0001t0001g0071 a0001c0001t0004g0011 a0001c0001t0004g0123 others(4): Show |
10 | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.703-1943_703-1936d others(10): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901159 | |||||||
| chr1:52901159 | AAAATAAA others(5): Show |
A | 1 | a0001c0001t0001g0100 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.703-1947_703-1936d others(14): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901159 | |||||||
| chr1:52901219 | C | CTTTAATA others(69): Show |
1 | a0001c0001t0001g0072 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.703-1996_703-1995i others(78): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901219 | |||||||
| chr1:52901220 | G | A | 1 | a0001c0001t0001g0072 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.703-1996C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901220 | |||||||
| chr1:52901237 | G | A | 7 | a0001c0001t0004g0010 a0001c0001t0004g0127 a0001c0001t0004g0128 others(4): Show |
10 | HG01891.hp1 HG02486.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.703-2013C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901237 | |||||||
| chr1:52901321 | C | T | 1 | a0001c0001t0001g0031 | 2 | NA18954.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.703-2097G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901321 | |||||||
| chr1:52901416 | G | GAA | 8 | a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0168 others(5): Show |
8 | HG01884.hp2 HG02145.hp2 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.703-2194_703-2193d others(4): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901416 | |||||||
| chr1:52901423 | AAC | A | 5 | a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show |
6 | HG02055.hp1 HG02257.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.703-2201_703-2200d others(4): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901423 | |||||||
| chr1:52901594 | C | G | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.703-2370G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901594 | |||||||
| chr1:52901602 | C | T | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.703-2378G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901602 | |||||||
| chr1:52901744 | C | G | 4 | a0001c0001t0005g0008 a0001c0001t0005g0183 a0001c0001t0005g0184 others(1): Show |
8 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.703-2520G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52901744 | |||||||
| chr1:52902027 | TA | T | 91 | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0034 others(88): Show |
132 | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(129): Show |
intron_variant | MODIFIER | c.702+2618delT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52902027 | |||||||
| chr1:52902620 | T | A | 37 | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0056 others(34): Show |
56 | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(53): Show |
intron_variant | MODIFIER | c.702+2026A>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52902620 | |||||||
| chr1:52902667 | T | C | 6 | a0001c0001t0004g0011 a0001c0001t0004g0123 a0001c0001t0004g0133 others(3): Show |
9 | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.702+1979A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52902667 | |||||||
| chr1:52902694 | TTAAA | T | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.702+1948_702+1951d others(6): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52902694 | |||||||
| chr1:52903155 | C | T | 1 | a0001c0001t0001g0016 | 3 | HG01243.hp1 HG03669.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.702+1491G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903155 | |||||||
| chr1:52903225 | G | A | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.702+1421C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903225 | |||||||
| chr1:52903449 | TTTTG | T | 24 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(21): Show |
46 | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.702+1193_702+1196d others(6): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903449 | |||||||
| chr1:52903511 | C | T | 2 | a0003c0004t0001g0124 a0003c0004t0001g0125 |
2 | HG03139.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.702+1135G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903511 | |||||||
| chr1:52903553 | A | G | 2 | a0001c0001t0001g0046 a0001c0001t0001g0059 |
2 | NA18946.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.702+1093T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903553 | |||||||
| chr1:52903587 | G | T | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.702+1059C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903587 | |||||||
| chr1:52903623 | G | A | 1 | a0001c0001t0002g0170 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.702+1023C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903623 | |||||||
| chr1:52903648 | C | A | 1 | a0001c0001t0001g0110 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.702+998G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903648 | |||||||
| chr1:52903670 | C | T | 8 | a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0168 others(5): Show |
8 | HG01884.hp2 HG02145.hp2 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.702+976G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903670 | |||||||
| chr1:52903718 | T | C | 1 | a0001c0001t0001g0073 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.702+928A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903718 | |||||||
| chr1:52903733 | C | T | 2 | a0001c0001t0001g0099 a0001c0001t0001g0101 |
2 | NA18945.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.702+913G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903733 | |||||||
| chr1:52903752 | G | A | 1 | a0001c0001t0003g0147 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.702+894C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903752 | |||||||
| chr1:52903805 | ATTTC | A | 5 | a0001c0001t0001g0040 a0002c0003t0001g0036 a0002c0003t0001g0126 others(2): Show |
6 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.702+837_702+840del others(4): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903805 | |||||||
| chr1:52903813 | C | G | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.702+833G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903813 | |||||||
| chr1:52903821 | C | CT | 15 | a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0026 others(12): Show |
18 | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(15): Show |
intron_variant | MODIFIER | c.702+824dupA | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903821 | |||||||
| chr1:52903825 | T | C | 40 | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 others(37): Show |
63 | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(60): Show |
intron_variant | MODIFIER | c.702+821A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903825 | |||||||
| chr1:52903850 | C | T | 2 | a0001c0001t0002g0038 a0001c0001t0002g0161 |
3 | HG01106.hp2 HG01167.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.702+796G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903850 | |||||||
| chr1:52903904 | G | A | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.702+742C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52903904 | |||||||
| chr1:52904467 | A | G | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.702+179T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52904467 | |||||||
| chr1:52904587 | C | T | 14 | a0001c0001t0001g0116 a0001c0001t0004g0010 a0001c0001t0004g0011 others(11): Show |
20 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(17): Show |
intron_variant | MODIFIER | c.702+59G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 7/9 | chr1 | 52904587 | |||||||
| chr1:52905095 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA18986.hp2 | splice_region_variant&intron_variant | LOW | c.458-5A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52905095 | |||||||
| chr1:52905132 | G | C | 1 | a0001c0001t0002g0180 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.458-42C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52905132 | |||||||
| chr1:52905204 | G | A | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.458-114C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52905204 | |||||||
| chr1:52905323 | G | A | 1 | a0001c0001t0001g0120 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.458-233C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52905323 | |||||||
| chr1:52905687 | C | T | 1 | a0001c0001t0002g0167 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.458-597G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52905687 | |||||||
| chr1:52905836 | G | C | 4 | a0001c0001t0005g0008 a0001c0001t0005g0183 a0001c0001t0005g0184 others(1): Show |
8 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.457+683C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52905836 | |||||||
| chr1:52905936 | C | T | 1 | a0001c0001t0001g0096 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.457+583G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52905936 | |||||||
| chr1:52906053 | A | G | 1 | a0001c0001t0003g0149 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.457+466T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52906053 | |||||||
| chr1:52906063 | C | G | 2 | a0001c0001t0001g0035 a0001c0001t0001g0138 |
3 | HG01109.hp2 HG01175.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.457+456G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52906063 | |||||||
| chr1:52906101 | C | A | 2 | a0001c0001t0001g0019 a0001c0001t0001g0084 |
4 | HG02451.hp2 HG02559.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.457+418G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52906101 | |||||||
| chr1:52906115 | C | G | 1 | a0001c0001t0002g0176 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.457+404G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52906115 | |||||||
| chr1:52906167 | G | T | 1 | a0001c0001t0001g0116 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.457+352C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52906167 | |||||||
| chr1:52906247 | G | A | 27 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(24): Show |
50 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(47): Show |
intron_variant | MODIFIER | c.457+272C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52906247 | |||||||
| chr1:52906466 | A | G | 6 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 others(3): Show |
12 | HG00741.hp2 HG01255.hp2 HG01358.hp2 others(9): Show |
intron_variant | MODIFIER | c.457+53T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 5/9 | chr1 | 52906466 | |||||||
| chr1:52906717 | C | A | 5 | a0001c0001t0004g0011 a0001c0001t0004g0133 a0001c0001t0004g0134 others(2): Show |
8 | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.365-106G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52906717 | |||||||
| chr1:52906764 | C | CT | 29 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 others(26): Show |
54 | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(51): Show |
intron_variant | MODIFIER | c.365-154dupA | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52906764 | |||||||
| chr1:52906764 | CT | C | 10 | a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 others(7): Show |
11 | HG01167.hp2 HG02683.hp2 HG03130.hp2 others(8): Show |
intron_variant | MODIFIER | c.365-154delA | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52906764 | |||||||
| chr1:52906764 | CTT | C | 14 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(11): Show |
20 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(17): Show |
intron_variant | MODIFIER | c.365-155_365-154del others(2): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52906764 | |||||||
| chr1:52906914 | G | A | 2 | a0001c0001t0004g0123 a0001c0001t0004g0131 |
2 | NA19240.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.365-303C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52906914 | |||||||
| chr1:52906922 | G | A | 34 | a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0002g0004 others(31): Show |
52 | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(49): Show |
intron_variant | MODIFIER | c.365-311C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52906922 | |||||||
| chr1:52906941 | A | AT | 43 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(40): Show |
75 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(72): Show |
intron_variant | MODIFIER | c.365-331dupA | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52906941 | |||||||
| chr1:52906941 | A | T | 14 | a0001c0001t0001g0065 a0001c0001t0004g0010 a0001c0001t0004g0011 others(11): Show |
20 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(17): Show |
intron_variant | MODIFIER | c.365-330T>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52906941 | |||||||
| chr1:52906944 | T | TTG | 12 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(9): Show |
18 | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.365-334_365-333ins others(2): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52906944 | |||||||
| chr1:52907099 | C | CT | 18 | a0001c0001t0001g0040 a0001c0001t0002g0176 a0001c0001t0002g0177 others(15): Show |
24 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.365-489dupA | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52907099 | |||||||
| chr1:52907105 | T | C | 28 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(25): Show |
51 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(48): Show |
intron_variant | MODIFIER | c.365-494A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52907105 | |||||||
| chr1:52907693 | C | T | 2 | a0001c0001t0001g0035 a0001c0001t0001g0138 |
3 | HG01109.hp2 HG01175.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.364+175G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 4/9 | chr1 | 52907693 | |||||||
| chr1:52908401 | G | A | 2 | a0001c0001t0001g0035 a0001c0001t0001g0138 |
3 | HG01109.hp2 HG01175.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.278-447C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908401 | |||||||
| chr1:52908433 | G | A | 1 | a0001c0001t0001g0116 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.278-479C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908433 | |||||||
| chr1:52908533 | C | T | 1 | a0001c0001t0002g0182 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.278-579G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908533 | |||||||
| chr1:52908566 | A | G | 7 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0164 others(4): Show |
7 | HG02280.hp2 HG02723.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.278-612T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908566 | |||||||
| chr1:52908611 | C | A | 1 | a0001c0001t0002g0178 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.278-657G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908611 | |||||||
| chr1:52908659 | C | T | 1 | a0001c0001t0001g0108 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.278-705G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908659 | |||||||
| chr1:52908749 | C | T | 2 | a0001c0001t0001g0019 a0001c0001t0001g0084 |
4 | HG02451.hp2 HG02559.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.278-795G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908749 | |||||||
| chr1:52908929 | C | CA | 26 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0017 others(23): Show |
41 | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(38): Show |
intron_variant | MODIFIER | c.278-976dupT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908929 | |||||||
| chr1:52908929 | C | CAA | 20 | a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0121 others(17): Show |
31 | HG00642.hp2 HG01192.hp2 HG01261.hp2 others(28): Show |
intron_variant | MODIFIER | c.278-977_278-976dup others(2): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908929 | |||||||
| chr1:52908929 | CA | C | 8 | a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0114 others(5): Show |
10 | HG01978.hp2 HG02257.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.278-976delT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908929 | |||||||
| chr1:52908929 | CAAAA | C | 4 | a0001c0001t0004g0011 a0001c0001t0004g0133 a0001c0001t0004g0134 others(1): Show |
7 | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.278-979_278-976del others(4): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908929 | |||||||
| chr1:52908929 | CAAAAA | C | 8 | a0001c0001t0004g0010 a0001c0001t0004g0123 a0001c0001t0004g0127 others(5): Show |
11 | HG01891.hp1 HG02486.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.278-980_278-976del others(5): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908929 | |||||||
| chr1:52908951 | A | G | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.278-997T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908951 | |||||||
| chr1:52908994 | C | T | 115 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(112): Show |
179 | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(176): Show |
intron_variant | MODIFIER | c.278-1040G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52908994 | |||||||
| chr1:52909080 | C | T | 2 | a0001c0001t0001g0046 a0001c0001t0001g0059 |
2 | NA18946.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.278-1126G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909080 | |||||||
| chr1:52909112 | C | T | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.278-1158G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909112 | |||||||
| chr1:52909135 | G | A | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.278-1181C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909135 | |||||||
| chr1:52909304 | G | A | 5 | a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0042 others(2): Show |
8 | HG01109.hp2 HG01175.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.278-1350C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909304 | |||||||
| chr1:52909318 | C | T | 1 | a0001c0001t0001g0120 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.278-1364G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909318 | |||||||
| chr1:52909422 | T | G | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.278-1468A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909422 | |||||||
| chr1:52909462 | C | T | 115 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(112): Show |
179 | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(176): Show |
intron_variant | MODIFIER | c.278-1508G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909462 | |||||||
| chr1:52909514 | T | C | 1 | a0001c0001t0001g0031 | 2 | NA18954.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.278-1560A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909514 | |||||||
| chr1:52909523 | T | TA | 36 | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0056 others(33): Show |
55 | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
intron_variant | MODIFIER | c.278-1570dupT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909523 | |||||||
| chr1:52909523 | T | TAA | 16 | a0001c0001t0002g0158 a0001c0001t0002g0175 a0001c0001t0003g0005 others(13): Show |
27 | HG00642.hp2 HG00735.hp2 HG01192.hp2 others(24): Show |
intron_variant | MODIFIER | c.278-1571_278-1570d others(4): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909523 | |||||||
| chr1:52909523 | T | TAAA | 8 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0164 others(5): Show |
8 | HG02280.hp2 HG02723.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.278-1572_278-1570d others(5): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909523 | |||||||
| chr1:52909523 | TA | T | 30 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(27): Show |
53 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(50): Show |
intron_variant | MODIFIER | c.278-1570delT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909523 | |||||||
| chr1:52909592 | T | C | 1 | a0001c0001t0003g0157 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.278-1638A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909592 | |||||||
| chr1:52909638 | G | A | 1 | a0001c0001t0001g0079 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.278-1684C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909638 | |||||||
| chr1:52909844 | G | A | 3 | a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 |
3 | HG02622.hp2 HG02922.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.277+1722C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909844 | |||||||
| chr1:52909972 | ATTACAAT others(6): Show |
A | 24 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(21): Show |
46 | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.277+1581_277+1593d others(15): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52909972 | |||||||
| chr1:52910181 | G | C | 2 | a0001c0001t0001g0046 a0001c0001t0001g0059 |
2 | NA18946.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.277+1385C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910181 | |||||||
| chr1:52910314 | C | T | 7 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0164 others(4): Show |
7 | HG02280.hp2 HG02723.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.277+1252G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910314 | |||||||
| chr1:52910352 | G | GT | 17 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(14): Show |
26 | HG00408.hp2 HG00642.hp1 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.277+1213dupA | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | G | GTT | 28 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(25): Show |
39 | HG00621.hp1 HG00735.hp1 HG01123.hp1 others(36): Show |
intron_variant | MODIFIER | c.277+1212_277+1213d others(4): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | G | GTTT | 21 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(18): Show |
35 | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(32): Show |
intron_variant | MODIFIER | c.277+1211_277+1213d others(5): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | G | GTTTT | 8 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0015 others(5): Show |
10 | HG00438.hp1 HG00544.hp1 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.277+1210_277+1213d others(6): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | GT | G | 8 | a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0043 others(5): Show |
9 | HG01891.hp2 HG02055.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.277+1213delA | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | GTT | G | 12 | a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0056 others(9): Show |
16 | HG00741.hp1 HG01109.hp2 HG01167.hp2 others(13): Show |
intron_variant | MODIFIER | c.277+1212_277+1213d others(4): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | GTTT | G | 23 | a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0059 others(20): Show |
31 | HG00738.hp2 HG01106.hp2 HG01123.hp2 others(28): Show |
intron_variant | MODIFIER | c.277+1211_277+1213d others(5): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | GTTTT | G | 29 | a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0002g0004 others(26): Show |
40 | HG00099.hp1 HG00639.hp2 HG00642.hp2 others(37): Show |
intron_variant | MODIFIER | c.277+1210_277+1213d others(6): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | GTTTTTTT | G | 9 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(6): Show |
15 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.277+1207_277+1213d others(9): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | GTTTTTTT others(6): Show |
G | 6 | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0030 others(3): Show |
9 | HG01978.hp1 HG04204.hp1 NA18940.hp2 others(6): Show |
intron_variant | MODIFIER | c.277+1201_277+1213d others(15): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | GTTTTTTT others(7): Show |
G | 23 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0031 others(20): Show |
42 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(39): Show |
intron_variant | MODIFIER | c.277+1200_277+1213d others(16): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | GTTTTTTT others(8): Show |
G | 1 | a0001c0001t0001g0050 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.277+1199_277+1213d others(17): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910352 | GTTTTTTT others(15): Show |
G | 3 | a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 |
3 | HG02622.hp2 HG02922.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.277+1192_277+1213d others(24): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910352 | |||||||
| chr1:52910355 | T | G | 1 | a0001c0001t0003g0156 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.277+1211A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910355 | |||||||
| chr1:52910359 | T | C | 4 | a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 others(1): Show |
4 | HG02630.hp1 HG02723.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.277+1207A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910359 | |||||||
| chr1:52910360 | T | C | 9 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(6): Show |
15 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.277+1206A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910360 | |||||||
| chr1:52910366 | T | G | 1 | a0001c0001t0001g0116 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.277+1200A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910366 | |||||||
| chr1:52910369 | T | G | 1 | a0001c0001t0001g0080 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.277+1197A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910369 | |||||||
| chr1:52910371 | T | G | 1 | a0001c0001t0001g0116 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.277+1195A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910371 | |||||||
| chr1:52910508 | A | G | 1 | a0001c0001t0002g0159 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.277+1058T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910508 | |||||||
| chr1:52910529 | T | C | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.277+1037A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910529 | |||||||
| chr1:52910589 | G | A | 2 | a0001c0001t0001g0046 a0001c0001t0001g0059 |
2 | NA18946.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.277+977C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910589 | |||||||
| chr1:52910751 | C | T | 4 | a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0042 others(1): Show |
7 | HG01109.hp2 HG01175.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.277+815G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910751 | |||||||
| chr1:52910933 | C | T | 1 | a0001c0001t0002g0166 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.277+633G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910933 | |||||||
| chr1:52910935 | G | T | 1 | a0001c0001t0001g0063 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.277+631C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910935 | |||||||
| chr1:52910986 | C | T | 2 | a0001c0001t0001g0014 a0001c0001t0001g0042 |
4 | HG02257.hp1 HG03195.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.277+580G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52910986 | |||||||
| chr1:52911013 | G | C | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.277+553C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52911013 | |||||||
| chr1:52911070 | G | A | 1 | a0001c0001t0001g0025 | 2 | NA18747.hp1 NA18955.hp2 |
intron_variant | MODIFIER | c.277+496C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52911070 | |||||||
| chr1:52911170 | G | C | 1 | a0001c0001t0002g0173 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.277+396C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52911170 | |||||||
| chr1:52911204 | G | T | 2 | a0003c0004t0001g0124 a0003c0004t0001g0125 |
2 | HG03139.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.277+362C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52911204 | |||||||
| chr1:52911453 | G | A | 29 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(26): Show |
52 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(49): Show |
intron_variant | MODIFIER | c.277+113C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | 52911453 | |||||||
| chr1:52911676 | T | C | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.190-23A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 2/9 | chr1 | 52911676 | |||||||
| chr1:52911706 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.189+17G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 2/9 | chr1 | 52911706 | |||||||
| chr1:52911797 | G | A | 1 | a0001c0001t0002g0174 | 1 | HG00099.hp1 | splice_region_variant&intron_variant | LOW | c.122-7C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52911797 | |||||||
| chr1:52911879 | A | C | 18 | a0001c0001t0001g0116 a0001c0001t0004g0010 a0001c0001t0004g0011 others(15): Show |
25 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(22): Show |
intron_variant | MODIFIER | c.122-89T>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52911879 | |||||||
| chr1:52911957 | C | A | 24 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(21): Show |
46 | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.122-167G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52911957 | |||||||
| chr1:52912097 | G | C | 8 | a0001c0001t0004g0010 a0001c0001t0004g0123 a0001c0001t0004g0127 others(5): Show |
11 | HG01891.hp1 HG02486.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.122-307C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912097 | |||||||
| chr1:52912101 | G | C | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.122-311C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912101 | |||||||
| chr1:52912105 | C | G | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.122-315G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912105 | |||||||
| chr1:52912123 | C | T | 1 | a0001c0001t0001g0062 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.122-333G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912123 | |||||||
| chr1:52912142 | T | C | 1 | a0001c0001t0001g0041 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.122-352A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912142 | |||||||
| chr1:52912171 | CT | C | 20 | a0001c0001t0001g0093 a0001c0001t0001g0116 a0001c0001t0003g0152 others(17): Show |
27 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(24): Show |
intron_variant | MODIFIER | c.122-382delA | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912171 | |||||||
| chr1:52912209 | G | GT | 41 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(38): Show |
64 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(61): Show |
intron_variant | MODIFIER | c.122-420dupA | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912209 | |||||||
| chr1:52912300 | T | C | 1 | a0001c0001t0004g0123 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.122-510A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912300 | |||||||
| chr1:52912367 | C | T | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.122-577G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912367 | |||||||
| chr1:52912601 | C | T | 2 | a0001c0001t0001g0046 a0001c0001t0001g0059 |
2 | NA18946.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.122-811G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912601 | |||||||
| chr1:52912607 | C | T | 3 | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0056 |
4 | HG01167.hp2 HG01243.hp2 HG01891.hp2 others(1): Show |
intron_variant | MODIFIER | c.122-817G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912607 | |||||||
| chr1:52912631 | A | G | 24 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(21): Show |
46 | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.122-841T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912631 | |||||||
| chr1:52912773 | C | T | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.122-983G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912773 | |||||||
| chr1:52912793 | T | G | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.122-1003A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912793 | |||||||
| chr1:52912885 | C | T | 3 | a0001c0001t0001g0034 a0001c0001t0001g0118 a0001c0001t0001g0119 |
4 | HG02257.hp2 HG02895.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.122-1095G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912885 | |||||||
| chr1:52912948 | AG | A | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.122-1159delC | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912948 | |||||||
| chr1:52912996 | A | C | 24 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(21): Show |
46 | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.122-1206T>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52912996 | |||||||
| chr1:52913007 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.122-1217G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52913007 | |||||||
| chr1:52913057 | T | C | 1 | a0001c0001t0001g0081 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.122-1267A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52913057 | |||||||
| chr1:52913289 | A | T | 2 | a0001c0001t0001g0046 a0001c0001t0001g0059 |
2 | NA18946.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.122-1499T>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52913289 | |||||||
| chr1:52913469 | T | C | 2 | a0001c0001t0001g0018 a0001c0001t0001g0082 |
4 | HG00423.hp2 NA18983.hp2 NA19079.hp2 others(1): Show |
intron_variant | MODIFIER | c.122-1679A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52913469 | |||||||
| chr1:52913486 | T | G | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.122-1696A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52913486 | |||||||
| chr1:52913732 | G | A | 5 | a0001c0001t0004g0011 a0001c0001t0004g0133 a0001c0001t0004g0134 others(2): Show |
8 | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.122-1942C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52913732 | |||||||
| chr1:52913780 | C | T | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.122-1990G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52913780 | |||||||
| chr1:52913956 | G | T | 1 | a0001c0001t0001g0060 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.122-2166C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52913956 | |||||||
| chr1:52914157 | C | G | 1 | a0001c0001t0002g0176 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.122-2367G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52914157 | |||||||
| chr1:52914188 | G | A | 1 | a0001c0001t0001g0083 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.122-2398C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52914188 | |||||||
| chr1:52914811 | C | T | 1 | a0001c0001t0001g0116 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.122-3021G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52914811 | |||||||
| chr1:52914843 | C | G | 27 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(24): Show |
50 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(47): Show |
intron_variant | MODIFIER | c.122-3053G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52914843 | |||||||
| chr1:52914952 | C | A | 1 | a0001c0001t0001g0026 | 2 | HG01257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.122-3162G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52914952 | |||||||
| chr1:52915029 | G | T | 2 | a0001c0001t0002g0162 a0001c0001t0002g0163 |
2 | HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.122-3239C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52915029 | |||||||
| chr1:52915200 | G | C | 1 | a0001c0001t0002g0175 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.122-3410C>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52915200 | |||||||
| chr1:52915250 | T | G | 25 | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0022 others(22): Show |
51 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(48): Show |
intron_variant | MODIFIER | c.122-3460A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52915250 | |||||||
| chr1:52915374 | G | T | 1 | a0001c0001t0002g0176 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.122-3584C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52915374 | |||||||
| chr1:52915595 | A | G | 2 | a0001c0001t0001g0035 a0001c0001t0001g0138 |
3 | HG01109.hp2 HG01175.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.122-3805T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52915595 | |||||||
| chr1:52915618 | G | A | 5 | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0056 others(2): Show |
6 | HG01167.hp2 HG01243.hp2 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.122-3828C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52915618 | |||||||
| chr1:52915720 | T | A | 4 | a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 others(1): Show |
4 | HG02280.hp2 HG02723.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.122-3930A>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52915720 | |||||||
| chr1:52915723 | C | T | 2 | a0001c0001t0001g0046 a0001c0001t0001g0059 |
2 | NA18946.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.122-3933G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52915723 | |||||||
| chr1:52916058 | C | G | 1 | a0001c0001t0001g0100 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.122-4268G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52916058 | |||||||
| chr1:52916110 | T | C | 1 | a0001c0001t0001g0094 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.122-4320A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52916110 | |||||||
| chr1:52916196 | T | G | 1 | a0001c0001t0001g0095 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.122-4406A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52916196 | |||||||
| chr1:52916616 | C | A | 2 | a0001c0001t0001g0046 a0001c0001t0001g0059 |
2 | NA18946.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.122-4826G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52916616 | |||||||
| chr1:52916731 | T | C | 1 | a0001c0001t0001g0042 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.121+4822A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52916731 | |||||||
| chr1:52916786 | C | T | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.121+4767G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52916786 | |||||||
| chr1:52916937 | A | G | 17 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(14): Show |
24 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.121+4616T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52916937 | |||||||
| chr1:52917012 | C | G | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.121+4541G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917012 | |||||||
| chr1:52917084 | G | T | 5 | a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show |
6 | HG02055.hp1 HG02257.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.121+4469C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917084 | |||||||
| chr1:52917144 | A | C | 111 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(108): Show |
174 | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(171): Show |
intron_variant | MODIFIER | c.121+4409T>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917144 | |||||||
| chr1:52917192 | G | A | 2 | a0001c0001t0001g0035 a0001c0001t0001g0138 |
3 | HG01109.hp2 HG01175.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.121+4361C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917192 | |||||||
| chr1:52917223 | G | GA | 6 | a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0096 others(3): Show |
9 | HG00438.hp2 HG01071.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.121+4329dupT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917223 | |||||||
| chr1:52917223 | GA | G | 20 | a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 others(17): Show |
27 | HG00408.hp2 HG01891.hp1 HG02055.hp2 others(24): Show |
intron_variant | MODIFIER | c.121+4329delT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917223 | |||||||
| chr1:52917412 | C | T | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.121+4141G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917412 | |||||||
| chr1:52917467 | A | C | 1 | a0001c0001t0001g0099 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.121+4086T>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917467 | |||||||
| chr1:52917479 | A | G | 17 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(14): Show |
24 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.121+4074T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917479 | |||||||
| chr1:52917522 | G | A | 17 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(14): Show |
24 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.121+4031C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917522 | |||||||
| chr1:52917648 | T | C | 28 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 others(25): Show |
51 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(48): Show |
intron_variant | MODIFIER | c.121+3905A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917648 | |||||||
| chr1:52917703 | T | C | 1 | a0001c0001t0002g0182 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.121+3850A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917703 | |||||||
| chr1:52917759 | A | G | 1 | a0001c0001t0001g0116 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.121+3794T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52917759 | |||||||
| chr1:52918145 | T | A | 1 | a0001c0001t0001g0113 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.121+3408A>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918145 | |||||||
| chr1:52918224 | T | C | 17 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(14): Show |
24 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.121+3329A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918224 | |||||||
| chr1:52918272 | G | A | 4 | a0001c0001t0001g0034 a0001c0001t0001g0118 a0001c0001t0001g0119 others(1): Show |
5 | HG02055.hp1 HG02257.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.121+3281C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918272 | |||||||
| chr1:52918287 | C | A | 18 | a0001c0001t0001g0116 a0001c0001t0004g0010 a0001c0001t0004g0011 others(15): Show |
25 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(22): Show |
intron_variant | MODIFIER | c.121+3266G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918287 | |||||||
| chr1:52918331 | G | A | 4 | a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 others(1): Show |
4 | HG00735.hp2 HG01192.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.121+3222C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918331 | |||||||
| chr1:52918358 | T | TA | 17 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0033 others(14): Show |
23 | HG00741.hp2 HG01255.hp2 HG01358.hp2 others(20): Show |
intron_variant | MODIFIER | c.121+3194dupT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918358 | |||||||
| chr1:52918358 | T | TAA | 4 | a0001c0001t0005g0008 a0001c0001t0005g0183 a0001c0001t0005g0184 others(1): Show |
8 | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.121+3193_121+3194d others(4): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918358 | |||||||
| chr1:52918358 | T | TAAA | 13 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(10): Show |
19 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.121+3192_121+3194d others(5): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918358 | |||||||
| chr1:52918358 | TA | T | 12 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(9): Show |
12 | HG00558.hp1 HG01167.hp1 HG01167.hp2 others(9): Show |
intron_variant | MODIFIER | c.121+3194delT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918358 | |||||||
| chr1:52918371 | A | G | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.121+3182T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918371 | |||||||
| chr1:52918665 | G | A | 5 | a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show |
6 | HG02055.hp1 HG02257.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.121+2888C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918665 | |||||||
| chr1:52918990 | G | A | 4 | a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 others(1): Show |
4 | HG00735.hp2 HG01192.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.121+2563C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52918990 | |||||||
| chr1:52919067 | C | T | 2 | a0003c0004t0001g0124 a0003c0004t0001g0125 |
2 | HG03139.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.121+2486G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52919067 | |||||||
| chr1:52919105 | G | A | 19 | a0001c0001t0001g0145 a0001c0001t0003g0005 a0001c0001t0003g0012 others(16): Show |
30 | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.121+2448C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52919105 | |||||||
| chr1:52919449 | A | G | 2 | a0001c0001t0001g0014 a0001c0001t0001g0042 |
4 | HG02257.hp1 HG03195.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.121+2104T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52919449 | |||||||
| chr1:52919614 | T | C | 1 | a0001c0001t0001g0121 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.121+1939A>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52919614 | |||||||
| chr1:52919620 | A | G | 17 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(14): Show |
24 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.121+1933T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52919620 | |||||||
| chr1:52919656 | G | A | 4 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.121+1897C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52919656 | |||||||
| chr1:52919664 | G | A | 1 | a0002c0003t0001g0126 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.121+1889C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52919664 | |||||||
| chr1:52919841 | C | A | 17 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0123 others(14): Show |
24 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.121+1712G>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52919841 | |||||||
| chr1:52919913 | T | G | 1 | a0001c0001t0001g0122 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.121+1640A>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52919913 | |||||||
| chr1:52920171 | G | A | 1 | a0001c0001t0003g0157 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.121+1382C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52920171 | |||||||
| chr1:52920410 | C | T | 1 | a0001c0001t0004g0123 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.121+1143G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52920410 | |||||||
| chr1:52920509 | A | G | 1 | a0001c0001t0001g0045 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.121+1044T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52920509 | |||||||
| chr1:52920744 | T | TA | 7 | a0001c0001t0001g0035 a0001c0001t0001g0138 a0001c0001t0004g0123 others(4): Show |
9 | HG01109.hp2 HG01175.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.121+808dupT | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52920744 | |||||||
| chr1:52920744 | T | TAA | 12 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0127 others(9): Show |
18 | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.121+807_121+808dup others(2): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52920744 | |||||||
| chr1:52920758 | A | C | 1 | a0001c0001t0001g0044 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.121+795T>G | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52920758 | |||||||
| chr1:52920906 | C | T | 1 | a0001c0001t0002g0158 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.121+647G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52920906 | |||||||
| chr1:52920953 | C | G | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.121+600G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52920953 | |||||||
| chr1:52920994 | C | T | 1 | a0001c0001t0001g0043 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.121+559G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52920994 | |||||||
| chr1:52921042 | A | G | 21 | a0001c0001t0001g0145 a0001c0001t0003g0005 a0001c0001t0003g0012 others(18): Show |
32 | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.121+511T>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921042 | |||||||
| chr1:52921098 | C | G | 2 | a0001c0001t0001g0014 a0001c0001t0001g0042 |
4 | HG02257.hp1 HG03195.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.121+455G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921098 | |||||||
| chr1:52921151 | C | T | 1 | a0001c0001t0003g0139 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.121+402G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921151 | |||||||
| chr1:52921197 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.121+356C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921197 | |||||||
| chr1:52921242 | C | T | 1 | a0001c0001t0001g0041 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.121+311G>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921242 | |||||||
| chr1:52921308 | G | T | 21 | a0001c0001t0001g0145 a0001c0001t0003g0005 a0001c0001t0003g0012 others(18): Show |
32 | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.121+245C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921308 | |||||||
| chr1:52921358 | C | G | 1 | a0001c0001t0001g0040 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.121+195G>C | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921358 | |||||||
| chr1:52921414 | G | T | 1 | a0001c0001t0001g0039 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.121+139C>A | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921414 | |||||||
| chr1:52921415 | G | A | 1 | a0001c0001t0001g0138 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.121+138C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921415 | |||||||
| chr1:52921543 | G | A | 21 | a0001c0001t0001g0145 a0001c0001t0003g0005 a0001c0001t0003g0012 others(18): Show |
32 | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.121+10C>T | ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1/9 | chr1 | 52921543 |