Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 55862 |
| ensemblid | ENSG00000093144.19 |
| hgncid | 21489 |
| symbol | ECHDC1 |
| name | ethylmalonyl-CoA decarboxylase 1 |
| refseq_nuc | NM_001002030.2 |
| refseq_prot | NP_001002030.1 |
| ensembl_nuc | ENST00000454859.8 |
| ensembl_prot | ENSP00000401751.3 |
| mane_status | MANE Select |
| chr | chr6 |
| start | 127288712 |
| end | 127343609 |
| strand | - |
| ver | v1.2 |
| region | chr6:127288712-127343609 |
| region5000 | chr6:127283712-127348609 |
| regionname0 | ECHDC1_chr6_127288712_127343609 |
| regionname5000 | ECHDC1_chr6_127283712_127348609 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 903 | 356 | 98 | 59 | 139 | 16 | 42 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | ATGGC others(898): Show |
chr6 | 127283712 | 127348609 | ||
| a0001c0002 | 0/0 | 903 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | ATGGC others(898): Show |
chr6 | 127283712 | 127348609 | ||
| a0001c0003 | 0/0 | 903 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | ATGGC others(898): Show |
chr6 | 127283712 | 127348609 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 2339 | 223 | 61 | 29 | 108 | 5 | 19 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0001t0002 | 0/1 | 2339 | 89 | 23 | 28 | 11 | 8 | 18 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0001t0003 | 0/0 | 2339 | 27 | 11 | 2 | 8 | 3 | 3 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0001t0004 | 0/0 | 2339 | 5 | 0 | 0 | 5 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0001t0005 | 0/0 | 2339 | 4 | 0 | 0 | 3 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0001t0006 | 0/0 | 2339 | 3 | 3 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTCAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0001t0007 | 0/0 | 2339 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0001t0008 | 0/0 | 2339 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0001t0009 | 0/0 | 2339 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0002t0001 | 0/0 | 2339 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| a0001c0003t0001 | 0/0 | 2339 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | GTGAC others(2334): Show |
chr6 | 127283712 | 127348609 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 17 | 0 | 0 | 12 | 0 | 5 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0002 | 0/0 | 7 | 0 | 0 | 7 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0003 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0005 | 0/0 | 4 | 0 | 1 | 2 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0006 | 0/0 | 4 | 0 | 4 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0009 | 0/0 | 3 | 0 | 0 | 2 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0011 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0012 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0013 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0014 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0015 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0016 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0017 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0018 | 1/0 | 2 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0019 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0020 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0021 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0022 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0023 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0025 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0026 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0027 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0028 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0029 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0030 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0031 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0004 | 0/0 | 5 | 1 | 1 | 0 | 1 | 2 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0032 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0033 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0034 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0035 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0036 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0037 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0211 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0213 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0217 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0218 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0239 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0252 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0255 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0257 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0261 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0264 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0270 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0271 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0275 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0279 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0280 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0002g0282 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0010 | 0/0 | 3 | 0 | 1 | 1 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0109 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0115 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0003g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0004g0008 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0004g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0004g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0005g0024 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0005g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0005g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0006g0007 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0007g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0007g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0008g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0008g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0001t0009g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0002t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| a0001c0003t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0003 | g0108 | EUR | GBR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0018 | EUR | GBR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00140 | hp1 | a0001 | c0001 | t0003 | g0109 | EUR | GBR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00140 | hp2 | a0001 | c0001 | t0002 | g0217 | EUR | GBR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0009 | EUR | FIN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00280 | hp2 | a0001 | c0001 | t0002 | g0279 | EUR | FIN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00323 | hp1 | a0001 | c0001 | t0002 | g0257 | EUR | FIN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00323 | hp2 | a0001 | c0001 | t0002 | g0004 | EUR | FIN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0189 | EAS | CHS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | CHS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | CHS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | CHS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | CHS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | CHS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00642 | hp1 | a0001 | c0001 | t0002 | g0220 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00642 | hp2 | a0001 | c0001 | t0002 | g0240 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | CHS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | CHS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00733 | hp1 | a0001 | c0001 | t0002 | g0256 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0179 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00735 | hp1 | a0001 | c0001 | t0003 | g0010 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00735 | hp2 | a0001 | c0001 | t0002 | g0033 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00738 | hp1 | a0001 | c0001 | t0002 | g0214 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0098 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00741 | hp1 | a0001 | c0001 | t0003 | g0183 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0219 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01081 | hp1 | a0001 | c0001 | t0002 | g0234 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0064 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01106 | hp1 | a0001 | c0001 | t0002 | g0232 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01106 | hp2 | a0001 | c0001 | t0002 | g0273 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01109 | hp1 | a0001 | c0001 | t0002 | g0224 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01167 | hp1 | a0001 | c0001 | t0002 | g0216 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0238 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0212 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0074 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0088 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01169 | hp2 | a0001 | c0001 | t0002 | g0215 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0058 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01175 | hp2 | a0001 | c0001 | t0002 | g0278 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0034 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0014 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0169 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01243 | hp2 | a0001 | c0001 | t0002 | g0221 | AMR | PUR | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01255 | hp1 | a0001 | c0001 | t0002 | g0267 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0129 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0023 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01257 | hp2 | a0001 | c0001 | t0002 | g0237 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01258 | hp1 | a0001 | c0002 | t0001 | g0059 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0023 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0231 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01358 | hp2 | a0001 | c0001 | t0002 | g0275 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01433 | hp1 | a0001 | c0001 | t0002 | g0268 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0092 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0138 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01515 | hp1 | a0001 | c0001 | t0002 | g0271 | EUR | IBS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01515 | hp2 | a0001 | c0001 | t0002 | g0213 | EUR | IBS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01516 | hp1 | a0001 | c0001 | t0003 | g0115 | EUR | IBS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0016 | EUR | IBS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0016 | EUR | IBS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01517 | hp2 | a0001 | c0001 | t0002 | g0270 | EUR | IBS | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0013 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0084 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01891 | hp1 | a0001 | c0001 | t0003 | g0188 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0122 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0135 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01928 | hp2 | a0001 | c0001 | t0002 | g0235 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0070 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0131 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01975 | hp2 | a0001 | c0001 | t0002 | g0276 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0071 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01981 | hp2 | a0001 | c0001 | t0002 | g0004 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0026 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01993 | hp2 | a0001 | c0001 | t0002 | g0245 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0130 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02004 | hp2 | a0001 | c0001 | t0002 | g0263 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0250 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0157 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02074 | hp2 | a0001 | c0001 | t0003 | g0112 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02080 | hp2 | a0001 | c0001 | t0005 | g0024 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02083 | hp1 | a0001 | c0001 | t0002 | g0033 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02083 | hp2 | a0001 | c0001 | t0005 | g0134 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02132 | hp1 | a0001 | c0001 | t0004 | g0039 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0004 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0055 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0139 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0063 | AMR | PEL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CDX | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | CDX | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0066 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0155 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02258 | hp2 | a0001 | c0001 | t0006 | g0007 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0128 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02280 | hp2 | a0001 | c0001 | t0006 | g0007 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0100 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0082 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02523 | hp2 | a0001 | c0001 | t0003 | g0116 | EAS | KHV | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0041 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02572 | hp2 | a0001 | c0001 | t0002 | g0281 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0057 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0030 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0124 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0020 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02630 | hp1 | a0001 | c0001 | t0003 | g0117 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0154 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0081 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02647 | hp2 | a0001 | c0001 | t0002 | g0248 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02683 | hp1 | a0001 | c0001 | t0002 | g0223 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02683 | hp2 | a0001 | c0001 | t0002 | g0253 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0261 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02717 | hp1 | a0001 | c0001 | t0002 | g0251 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02717 | hp2 | a0001 | c0001 | t0003 | g0187 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02723 | hp1 | a0001 | c0001 | t0003 | g0185 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0085 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02735 | hp2 | a0001 | c0001 | t0002 | g0004 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0044 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0168 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0046 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02818 | hp2 | a0001 | c0001 | t0002 | g0246 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02886 | hp2 | a0001 | c0001 | t0002 | g0229 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0028 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02895 | hp2 | a0001 | c0001 | t0002 | g0226 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0152 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02922 | hp1 | a0001 | c0001 | t0006 | g0007 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02922 | hp2 | a0001 | c0001 | t0003 | g0184 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0021 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02965 | hp2 | a0001 | c0001 | t0002 | g0274 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0156 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02976 | hp2 | a0001 | c0001 | t0002 | g0259 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03017 | hp1 | a0001 | c0001 | t0003 | g0111 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0198 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03041 | hp1 | a0001 | c0001 | t0002 | g0035 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0093 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0037 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0153 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0083 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03130 | hp2 | a0001 | c0001 | t0002 | g0272 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03139 | hp1 | a0001 | c0001 | t0003 | g0182 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03195 | hp1 | a0001 | c0001 | t0002 | g0247 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0027 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03209 | hp1 | a0001 | c0001 | t0002 | g0035 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0076 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0037 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0161 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03239 | hp1 | a0001 | c0001 | t0003 | g0106 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0277 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0043 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0176 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0151 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03486 | hp2 | a0001 | c0001 | t0002 | g0244 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03490 | hp2 | a0001 | c0001 | t0002 | g0032 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0032 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0072 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0121 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0228 | AFR | ESN | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03540 | hp1 | a0001 | c0001 | t0002 | g0258 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0040 | AFR | GWD | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0021 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0027 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03654 | hp1 | a0001 | c0001 | t0003 | g0010 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0067 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0086 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0004 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03688 | hp1 | a0001 | c0001 | t0002 | g0255 | SAS | STU | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03688 | hp2 | a0001 | c0001 | t0002 | g0227 | SAS | STU | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0222 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03704 | hp2 | a0001 | c0001 | t0009 | g0078 | SAS | PJL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0192 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03831 | hp2 | a0001 | c0001 | t0002 | g0218 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0132 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0252 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0177 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03927 | hp2 | a0001 | c0001 | t0002 | g0034 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03942 | hp1 | a0001 | c0001 | t0005 | g0136 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0079 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0030 | SAS | STU | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG04184 | hp1 | a0001 | c0001 | t0002 | g0280 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0080 | SAS | BEB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG04199 | hp2 | a0001 | c0001 | t0002 | g0236 | SAS | STU | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0282 | SAS | STU | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18522 | hp1 | a0001 | c0001 | t0002 | g0249 | AFR | YRI | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18522 | hp2 | a0001 | c0001 | t0003 | g0114 | AFR | YRI | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | CHB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | CHB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0077 | AFR | YRI | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | YRI | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0243 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18946 | hp1 | a0001 | c0001 | t0003 | g0103 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18946 | hp2 | a0001 | c0001 | t0004 | g0008 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18953 | hp1 | a0001 | c0001 | t0004 | g0008 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18954 | hp2 | a0001 | c0001 | t0002 | g0036 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0193 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18960 | hp2 | a0001 | c0001 | t0003 | g0104 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18965 | hp1 | a0001 | c0003 | t0001 | g0087 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18967 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18978 | hp1 | a0001 | c0001 | t0003 | g0107 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18980 | hp2 | a0001 | c0001 | t0002 | g0265 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18982 | hp1 | a0001 | c0001 | t0003 | g0110 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18982 | hp2 | a0001 | c0001 | t0007 | g0165 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18988 | hp2 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18993 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19002 | hp1 | a0001 | c0001 | t0002 | g0241 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0036 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0014 | AFR | LWK | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19030 | hp2 | a0001 | c0001 | t0003 | g0119 | AFR | LWK | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19043 | hp1 | a0001 | c0001 | t0003 | g0118 | AFR | LWK | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | LWK | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19057 | hp2 | a0001 | c0001 | t0002 | g0260 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19059 | hp1 | a0001 | c0001 | t0008 | g0209 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19059 | hp2 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19060 | hp2 | a0001 | c0001 | t0002 | g0254 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19062 | hp2 | a0001 | c0001 | t0002 | g0266 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19063 | hp1 | a0001 | c0001 | t0002 | g0269 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19064 | hp1 | a0001 | c0001 | t0004 | g0008 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19076 | hp1 | a0001 | c0001 | t0005 | g0024 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19076 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19078 | hp1 | a0001 | c0001 | t0004 | g0038 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19078 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19079 | hp2 | a0001 | c0001 | t0003 | g0010 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19081 | hp1 | a0001 | c0001 | t0007 | g0166 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19081 | hp2 | a0001 | c0001 | t0003 | g0105 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19083 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19087 | hp1 | a0001 | c0001 | t0002 | g0242 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19089 | hp1 | a0001 | c0001 | t0008 | g0210 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0159 | AFR | YRI | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0120 | AFR | YRI | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0069 | AFR | ASW | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0068 | AFR | ASW | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0091 | EUR | TSI | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA20805 | hp2 | a0001 | c0001 | t0002 | g0211 | EUR | TSI | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0264 | SAS | GIH | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0137 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG01123 | hp2 | a0001 | c0001 | t0002 | g0225 | AMR | CLM | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02109 | hp2 | a0001 | c0001 | t0003 | g0113 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02486 | hp1 | a0001 | c0001 | t0003 | g0186 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02486 | hp2 | a0001 | c0001 | t0002 | g0233 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0045 | AFR | ACB | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03471 | hp1 | a0001 | c0001 | t0002 | g0262 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | MSL | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0013 | AFR | USA | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0020 | AFR | USA | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0167 | AFR | USA | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0073 | AFR | USA | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0050 | AFR | LWK | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0230 | AFR | LWK | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0002 | g0239 | REF | REF | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0018 | REF | REF | ECHDC1_chr6_127283712_127348609 | ECHDC1 | chr6 | 127283712 | 127348609 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:127327083 | T | C | 1 | a0001c0002 | 1 | HG01258.hp1 | synonymous_variant | LOW | c.282A>G | p.Lys94Lys | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/6 | 558/2339 | 282/906 | 94/301 | chr6 | 127327083 | |||
| chr6:127330918 | C | A | 1 | a0001c0003 | 1 | NA18965.hp1 | synonymous_variant | LOW | c.111G>T | p.Val37Val | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/6 | 387/2339 | 111/906 | 37/301 | chr6 | 127330918 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:127288756 | A | G | 1 | a0001c0001t0005 | 4 | HG02080.hp2 HG02083.hp2 HG03942.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1113T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 6/6 | 1113 | chr6 | 127288756 | ||||||
| chr6:127288765 | T | G | 1 | a0001c0001t0009 | 1 | HG03704.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1104A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 6/6 | 1104 | chr6 | 127288765 | ||||||
| chr6:127288876 | G | A | 2 | a0001c0001t0002 a0001c0001t0003 |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
3_prime_UTR_variant | MODIFIER | c.*993C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 6/6 | 993 | chr6 | 127288876 | ||||||
| chr6:127289840 | A | G | 1 | a0001c0001t0007 | 2 | NA18982.hp2 NA19081.hp1 |
3_prime_UTR_variant | MODIFIER | c.*29T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 6/6 | 29 | chr6 | 127289840 | ||||||
| chr6:127343451 | T | C | 1 | a0001c0001t0008 | 2 | NA19059.hp1 NA19089.hp1 |
5_prime_UTR_variant | MODIFIER | c.-118A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/6 | 12423 | chr6 | 127343451 | ||||||
| chr6:127343502 | C | G | 1 | a0001c0001t0004 | 5 | HG02132.hp1 NA18946.hp2 NA18953.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-169G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/6 | 12474 | chr6 | 127343502 | ||||||
| chr6:127343516 | G | A | 1 | a0001c0001t0002 | 88 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-183C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/6 | chr6 | 127343516 | |||||||
| chr6:127343607 | C | G | 1 | a0001c0001t0006 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
5_prime_UTR_variant | MODIFIER | c.-274G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/6 | 12579 | chr6 | 127343607 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr6:127290608 | T | A | 3 | a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0274 |
3 | HG02965.hp2 HG02976.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.498-331A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127290608 | |||||||
| chr6:127291026 | T | C | 1 | a0001c0001t0001g0064 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.498-749A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291026 | |||||||
| chr6:127291028 | G | C | 1 | a0001c0001t0003g0113 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.498-751C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291028 | |||||||
| chr6:127291276 | C | CT | 82 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 others(79): Show |
90 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(87): Show |
intron_variant | MODIFIER | c.498-1000dupA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291276 | |||||||
| chr6:127291276 | C | CTT | 23 | a0001c0001t0001g0066 a0001c0001t0002g0004 a0001c0001t0002g0033 others(20): Show |
29 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.498-1001_498-1000d others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291276 | |||||||
| chr6:127291276 | C | CTTT | 8 | a0001c0001t0002g0032 a0001c0001t0002g0211 a0001c0001t0002g0219 others(5): Show |
9 | HG00741.hp2 HG01123.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.498-1002_498-1000d others(5): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291276 | |||||||
| chr6:127291276 | CT | C | 81 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(78): Show |
114 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(111): Show |
intron_variant | MODIFIER | c.498-1000delA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291276 | |||||||
| chr6:127291276 | CTT | C | 6 | a0001c0001t0001g0129 a0001c0001t0001g0146 a0001c0001t0001g0150 others(3): Show |
6 | HG01255.hp2 HG02896.hp2 NA18982.hp2 others(3): Show |
intron_variant | MODIFIER | c.498-1001_498-1000d others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291276 | |||||||
| chr6:127291684 | T | C | 2 | a0001c0001t0001g0031 a0001c0001t0001g0192 |
3 | HG01099.hp1 HG01109.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.498-1407A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291684 | |||||||
| chr6:127291937 | A | C | 2 | a0001c0001t0003g0114 a0001c0001t0003g0117 |
2 | HG02630.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.498-1660T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291937 | |||||||
| chr6:127291994 | T | C | 1 | a0001c0001t0001g0063 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.498-1717A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127291994 | |||||||
| chr6:127292821 | C | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.498-2544G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127292821 | |||||||
| chr6:127292914 | T | C | 29 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(26): Show |
36 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.498-2637A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127292914 | |||||||
| chr6:127293061 | A | G | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-2784T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127293061 | |||||||
| chr6:127293156 | G | A | 61 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(58): Show |
86 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(83): Show |
intron_variant | MODIFIER | c.498-2879C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127293156 | |||||||
| chr6:127293190 | C | T | 2 | a0001c0001t0002g0212 a0001c0001t0002g0214 |
2 | HG00738.hp1 HG01168.hp1 |
intron_variant | MODIFIER | c.498-2913G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127293190 | |||||||
| chr6:127293301 | T | C | 5 | a0001c0001t0002g0033 a0001c0001t0002g0212 a0001c0001t0002g0214 others(2): Show |
6 | HG00735.hp2 HG00738.hp1 HG01167.hp1 others(3): Show |
intron_variant | MODIFIER | c.498-3024A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127293301 | |||||||
| chr6:127293555 | T | A | 1 | a0001c0001t0007g0166 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.498-3278A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127293555 | |||||||
| chr6:127293676 | A | G | 1 | a0001c0001t0002g0224 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.498-3399T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127293676 | |||||||
| chr6:127293855 | C | A | 208 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(205): Show |
256 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.498-3578G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127293855 | |||||||
| chr6:127293858 | T | C | 1 | a0001c0001t0002g0262 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.498-3581A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127293858 | |||||||
| chr6:127294003 | T | G | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-3726A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294003 | |||||||
| chr6:127294310 | T | C | 1 | a0001c0001t0001g0130 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.498-4033A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294310 | |||||||
| chr6:127294422 | C | T | 1 | a0001c0001t0007g0165 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.498-4145G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294422 | |||||||
| chr6:127294592 | T | G | 1 | a0001c0001t0001g0081 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.498-4315A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294592 | |||||||
| chr6:127294593 | C | T | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.498-4316G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294593 | |||||||
| chr6:127294594 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.498-4317C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294594 | |||||||
| chr6:127294671 | C | A | 2 | a0001c0001t0001g0019 a0001c0001t0001g0128 |
3 | HG02280.hp1 HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.498-4394G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294671 | |||||||
| chr6:127294697 | C | T | 3 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 |
3 | HG01496.hp1 HG02735.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.498-4420G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294697 | |||||||
| chr6:127294870 | T | G | 1 | a0001c0001t0001g0180 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.498-4593A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294870 | |||||||
| chr6:127294952 | A | AT | 11 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(8): Show |
14 | HG00438.hp2 HG00733.hp2 HG01175.hp1 others(11): Show |
intron_variant | MODIFIER | c.498-4676dupA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127294952 | |||||||
| chr6:127295113 | T | A | 1 | a0001c0001t0003g0119 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.498-4836A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127295113 | |||||||
| chr6:127295252 | G | A | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.498-4975C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127295252 | |||||||
| chr6:127295459 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.498-5182T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127295459 | |||||||
| chr6:127295696 | A | T | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-5419T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127295696 | |||||||
| chr6:127295944 | A | G | 1 | a0001c0001t0001g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.498-5667T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127295944 | |||||||
| chr6:127296043 | T | G | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-5766A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296043 | |||||||
| chr6:127296098 | T | C | 49 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(46): Show |
52 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.498-5821A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296098 | |||||||
| chr6:127296171 | G | A | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.498-5894C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296171 | |||||||
| chr6:127296190 | G | C | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.498-5913C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296190 | |||||||
| chr6:127296198 | C | G | 5 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(2): Show |
7 | HG00423.hp2 HG02129.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.498-5921G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296198 | |||||||
| chr6:127296280 | G | A | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.498-6003C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296280 | |||||||
| chr6:127296321 | G | T | 8 | a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0046 others(5): Show |
9 | HG00738.hp2 HG02451.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.498-6044C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296321 | |||||||
| chr6:127296329 | A | G | 25 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(22): Show |
27 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.498-6052T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296329 | |||||||
| chr6:127296394 | C | T | 29 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(26): Show |
36 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.498-6117G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296394 | |||||||
| chr6:127296435 | C | T | 1 | a0001c0002t0001g0059 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.498-6158G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296435 | |||||||
| chr6:127296671 | A | T | 79 | a0001c0001t0001g0071 a0001c0001t0002g0004 a0001c0001t0002g0032 others(76): Show |
89 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.498-6394T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296671 | |||||||
| chr6:127296874 | G | A | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.498-6597C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296874 | |||||||
| chr6:127296927 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.498-6650A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296927 | |||||||
| chr6:127296950 | A | T | 25 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(22): Show |
27 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.498-6673T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127296950 | |||||||
| chr6:127297053 | A | G | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.498-6776T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127297053 | |||||||
| chr6:127297171 | T | C | 1 | a0001c0001t0002g0281 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.498-6894A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127297171 | |||||||
| chr6:127297219 | A | G | 1 | a0001c0001t0001g0079 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.498-6942T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127297219 | |||||||
| chr6:127297635 | A | G | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.498-7358T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127297635 | |||||||
| chr6:127297649 | C | T | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.498-7372G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127297649 | |||||||
| chr6:127297925 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.498-7648A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127297925 | |||||||
| chr6:127297962 | G | A | 1 | a0001c0001t0001g0159 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.498-7685C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127297962 | |||||||
| chr6:127297971 | C | T | 10 | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 others(7): Show |
10 | HG00408.hp1 HG02071.hp1 HG02523.hp1 others(7): Show |
intron_variant | MODIFIER | c.498-7694G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127297971 | |||||||
| chr6:127298226 | T | C | 2 | a0001c0001t0001g0081 a0001c0001t0001g0100 |
2 | HG02451.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.498-7949A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127298226 | |||||||
| chr6:127298325 | C | CT | 105 | a0001c0001t0001g0143 a0001c0001t0001g0199 a0001c0001t0002g0004 others(102): Show |
117 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(114): Show |
intron_variant | MODIFIER | c.498-8049dupA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127298325 | |||||||
| chr6:127298535 | T | G | 1 | a0001c0001t0001g0079 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.498-8258A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127298535 | |||||||
| chr6:127298589 | AAGGTATA others(1): Show |
A | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.498-8320_498-8313d others(10): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127298589 | |||||||
| chr6:127298639 | G | A | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | NA18963.hp1 NA18991.hp1 |
intron_variant | MODIFIER | c.498-8362C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127298639 | |||||||
| chr6:127298860 | C | T | 29 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(26): Show |
36 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.498-8583G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127298860 | |||||||
| chr6:127298879 | A | AT | 6 | a0001c0001t0001g0076 a0001c0001t0001g0120 a0001c0001t0001g0121 others(3): Show |
6 | HG01891.hp2 HG03209.hp2 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.498-8603dupA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127298879 | |||||||
| chr6:127299041 | A | AT | 106 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(103): Show |
142 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(139): Show |
intron_variant | MODIFIER | c.498-8765dupA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127299041 | |||||||
| chr6:127299041 | A | ATT | 103 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(100): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.498-8766_498-8765d others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127299041 | |||||||
| chr6:127299272 | A | G | 2 | a0001c0001t0001g0156 a0001c0001t0001g0169 |
2 | HG01243.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.498-8995T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127299272 | |||||||
| chr6:127299447 | TA | T | 24 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0060 others(21): Show |
27 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.498-9171delT | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127299447 | |||||||
| chr6:127299471 | A | G | 2 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | NA19068.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.498-9194T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127299471 | |||||||
| chr6:127299725 | A | T | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.498-9448T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127299725 | |||||||
| chr6:127299805 | C | A | 49 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(46): Show |
52 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.498-9528G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127299805 | |||||||
| chr6:127300082 | C | T | 1 | a0001c0001t0001g0148 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.498-9805G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127300082 | |||||||
| chr6:127300118 | T | G | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.498-9841A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127300118 | |||||||
| chr6:127300603 | A | G | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.498-10326T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127300603 | |||||||
| chr6:127300996 | TACC | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.498-10722_498-1072 others(7): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127300996 | |||||||
| chr6:127301163 | T | C | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.498-10886A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127301163 | |||||||
| chr6:127301201 | G | A | 1 | a0001c0001t0001g0147 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.498-10924C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127301201 | |||||||
| chr6:127301578 | G | A | 1 | a0001c0001t0001g0069 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.498-11301C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127301578 | |||||||
| chr6:127301579 | T | A | 3 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0175 |
5 | HG02559.hp1 HG02615.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.498-11302A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127301579 | |||||||
| chr6:127302034 | T | C | 1 | a0001c0001t0001g0132 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.498-11757A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127302034 | |||||||
| chr6:127302091 | A | G | 1 | a0001c0001t0001g0060 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.498-11814T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127302091 | |||||||
| chr6:127302103 | A | G | 1 | a0001c0001t0003g0119 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.498-11826T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127302103 | |||||||
| chr6:127302231 | A | G | 1 | a0001c0001t0001g0122 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.498-11954T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127302231 | |||||||
| chr6:127302396 | A | G | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-12119T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127302396 | |||||||
| chr6:127302545 | G | A | 1 | a0001c0001t0003g0110 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.498-12268C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127302545 | |||||||
| chr6:127302615 | G | C | 5 | a0001c0001t0001g0030 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
6 | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.497+12201C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127302615 | |||||||
| chr6:127303033 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.497+11783G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127303033 | |||||||
| chr6:127303067 | A | G | 1 | a0001c0001t0003g0115 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.497+11749T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127303067 | |||||||
| chr6:127303263 | AT | A | 103 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(100): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.497+11552delA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127303263 | |||||||
| chr6:127303269 | C | G | 103 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(100): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.497+11547G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127303269 | |||||||
| chr6:127303464 | C | G | 3 | a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0261 |
3 | HG02683.hp2 HG02698.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.497+11352G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127303464 | |||||||
| chr6:127303572 | C | T | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | NA18963.hp1 NA18991.hp1 |
intron_variant | MODIFIER | c.497+11244G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127303572 | |||||||
| chr6:127303799 | C | T | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.497+11017G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127303799 | |||||||
| chr6:127304099 | C | A | 1 | a0001c0001t0001g0083 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.497+10717G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127304099 | |||||||
| chr6:127304148 | T | C | 1 | a0001c0001t0002g0267 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.497+10668A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127304148 | |||||||
| chr6:127304333 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.497+10483G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127304333 | |||||||
| chr6:127304386 | C | G | 1 | a0001c0001t0001g0153 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.497+10430G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127304386 | |||||||
| chr6:127304564 | C | G | 2 | a0001c0001t0001g0019 a0001c0001t0001g0128 |
3 | HG02280.hp1 HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.497+10252G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127304564 | |||||||
| chr6:127304583 | G | C | 1 | a0001c0001t0001g0011 | 3 | HG02132.hp2 NA18998.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.497+10233C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127304583 | |||||||
| chr6:127304767 | T | C | 1 | a0001c0001t0005g0136 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.497+10049A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127304767 | |||||||
| chr6:127304847 | G | T | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.497+9969C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127304847 | |||||||
| chr6:127305337 | A | C | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.497+9479T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127305337 | |||||||
| chr6:127305547 | GTCTTA | G | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.497+9264_497+9268d others(7): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127305547 | |||||||
| chr6:127305842 | A | T | 15 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(12): Show |
17 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(14): Show |
intron_variant | MODIFIER | c.497+8974T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127305842 | |||||||
| chr6:127306014 | TA | T | 8 | a0001c0001t0001g0097 a0001c0001t0001g0156 a0001c0001t0001g0162 others(5): Show |
8 | HG01993.hp2 HG02083.hp2 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.497+8801delT | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127306014 | |||||||
| chr6:127306311 | T | C | 1 | a0001c0001t0001g0164 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.497+8505A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127306311 | |||||||
| chr6:127306917 | A | G | 2 | a0001c0001t0002g0241 a0001c0001t0002g0242 |
2 | NA19002.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.497+7899T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127306917 | |||||||
| chr6:127306986 | C | A | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.497+7830G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127306986 | |||||||
| chr6:127307005 | A | C | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.497+7811T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307005 | |||||||
| chr6:127307020 | T | C | 2 | a0001c0001t0001g0019 a0001c0001t0001g0128 |
3 | HG02280.hp1 HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.497+7796A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307020 | |||||||
| chr6:127307251 | A | G | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.497+7565T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307251 | |||||||
| chr6:127307427 | G | A | 25 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(22): Show |
27 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.497+7389C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307427 | |||||||
| chr6:127307464 | A | G | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.497+7352T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307464 | |||||||
| chr6:127307498 | A | G | 1 | a0001c0001t0003g0119 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.497+7318T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307498 | |||||||
| chr6:127307648 | G | GAAAAAAA | 61 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(58): Show |
87 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(84): Show |
intron_variant | MODIFIER | c.497+7161_497+7167d others(9): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307648 | G | GAAAAAAA others(1): Show |
9 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0144 others(6): Show |
11 | HG01993.hp1 HG02071.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.497+7160_497+7167d others(10): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307648 | G | GAAAAAAA others(3): Show |
19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.497+7158_497+7167d others(12): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307648 | G | GAAAAAAA others(4): Show |
4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.497+7157_497+7167d others(13): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307648 | G | GAAAAAAA others(6): Show |
4 | a0001c0001t0001g0030 a0001c0001t0001g0177 a0001c0001t0001g0178 others(1): Show |
5 | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.497+7155_497+7167d others(15): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307648 | G | GAAAAAAA others(7): Show |
5 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(2): Show |
5 | HG01891.hp2 HG03239.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.497+7154_497+7167d others(16): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307648 | G | GAAAAAAA others(8): Show |
54 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(51): Show |
63 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(60): Show |
intron_variant | MODIFIER | c.497+7167_497+7168i others(17): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307648 | G | GAAAAAAA others(9): Show |
42 | a0001c0001t0002g0036 a0001c0001t0002g0218 a0001c0001t0002g0219 others(39): Show |
45 | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(42): Show |
intron_variant | MODIFIER | c.497+7167_497+7168i others(18): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307648 | G | GAAAAAAA others(10): Show |
5 | a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0268 others(2): Show |
5 | HG01106.hp2 HG01358.hp2 HG01433.hp1 others(2): Show |
intron_variant | MODIFIER | c.497+7167_497+7168i others(19): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307648 | G | GAAAAAAA others(11): Show |
1 | a0001c0001t0002g0251 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.497+7167_497+7168i others(20): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307648 | |||||||
| chr6:127307759 | G | GA | 8 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(5): Show |
8 | HG00423.hp2 HG01891.hp2 HG02129.hp1 others(5): Show |
intron_variant | MODIFIER | c.497+7056dupT | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307759 | |||||||
| chr6:127307759 | G | GAA | 199 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(196): Show |
247 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(244): Show |
intron_variant | MODIFIER | c.497+7055_497+7056d others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307759 | |||||||
| chr6:127307854 | T | C | 1 | a0001c0001t0003g0111 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.497+6962A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307854 | |||||||
| chr6:127307993 | T | C | 103 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(100): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.497+6823A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127307993 | |||||||
| chr6:127308278 | A | G | 2 | a0001c0001t0002g0255 a0001c0001t0002g0280 |
2 | HG03688.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.497+6538T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127308278 | |||||||
| chr6:127308657 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+6159A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127308657 | |||||||
| chr6:127308728 | G | C | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.497+6088C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127308728 | |||||||
| chr6:127308798 | C | T | 1 | a0001c0001t0001g0068 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.497+6018G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127308798 | |||||||
| chr6:127308808 | T | C | 29 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(26): Show |
36 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.497+6008A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127308808 | |||||||
| chr6:127308900 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.497+5916C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127308900 | |||||||
| chr6:127308947 | A | C | 2 | a0001c0001t0002g0255 a0001c0001t0002g0280 |
2 | HG03688.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.497+5869T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127308947 | |||||||
| chr6:127309005 | A | C | 2 | a0001c0001t0001g0138 a0001c0001t0001g0139 |
2 | HG01496.hp2 HG02148.hp1 |
intron_variant | MODIFIER | c.497+5811T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309005 | |||||||
| chr6:127309444 | TAAAGAA | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+5366_497+5371d others(8): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309444 | |||||||
| chr6:127309479 | AAACACAC others(6): Show |
A | 1 | a0001c0001t0001g0138 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.497+5324_497+5336d others(15): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309479 | |||||||
| chr6:127309479 | AAACACAC others(10): Show |
A | 1 | a0001c0001t0001g0180 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.497+5320_497+5336d others(19): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309479 | |||||||
| chr6:127309480 | AACAC | A | 3 | a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0208 |
3 | HG02602.hp1 HG02647.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.497+5332_497+5335d others(6): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACAC | A | 7 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(4): Show |
12 | HG01943.hp1 HG02451.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.497+5330_497+5335d others(8): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(1): Show |
A | 18 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(15): Show |
22 | HG01081.hp2 HG02280.hp1 HG02630.hp2 others(19): Show |
intron_variant | MODIFIER | c.497+5328_497+5335d others(10): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(3): Show |
A | 46 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(43): Show |
58 | HG00408.hp1 HG00673.hp1 HG00738.hp2 others(55): Show |
intron_variant | MODIFIER | c.497+5326_497+5335d others(12): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(5): Show |
A | 10 | a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0001g0072 others(7): Show |
10 | HG00280.hp1 HG01496.hp1 HG02735.hp1 others(7): Show |
intron_variant | MODIFIER | c.497+5324_497+5335d others(14): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(7): Show |
A | 28 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(25): Show |
35 | HG01099.hp1 HG01109.hp2 HG01192.hp2 others(32): Show |
intron_variant | MODIFIER | c.497+5322_497+5335d others(16): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(9): Show |
A | 58 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(55): Show |
76 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(73): Show |
intron_variant | MODIFIER | c.497+5320_497+5335d others(18): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(11): Show |
A | 16 | a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0029 others(13): Show |
21 | HG00423.hp2 HG00438.hp2 HG00733.hp2 others(18): Show |
intron_variant | MODIFIER | c.497+5318_497+5335d others(20): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(15): Show |
A | 5 | a0001c0001t0002g0004 a0001c0001t0002g0034 a0001c0001t0002g0213 others(2): Show |
6 | HG00323.hp2 HG01515.hp2 HG01891.hp1 others(3): Show |
intron_variant | MODIFIER | c.497+5314_497+5335d others(24): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(17): Show |
A | 33 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(30): Show |
37 | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(34): Show |
intron_variant | MODIFIER | c.497+5312_497+5335d others(26): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(19): Show |
A | 12 | a0001c0001t0002g0246 a0001c0001t0002g0258 a0001c0001t0002g0259 others(9): Show |
12 | HG00099.hp1 HG00140.hp1 HG01358.hp2 others(9): Show |
intron_variant | MODIFIER | c.497+5310_497+5335d others(28): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(21): Show |
A | 54 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(51): Show |
57 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(54): Show |
intron_variant | MODIFIER | c.497+5308_497+5335d others(30): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309480 | AACACACA others(23): Show |
A | 3 | a0001c0001t0002g0035 a0001c0001t0002g0274 a0001c0001t0002g0281 |
3 | HG02572.hp2 HG02965.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.497+5306_497+5335d others(32): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309480 | |||||||
| chr6:127309549 | A | T | 5 | a0001c0001t0002g0036 a0001c0001t0002g0243 a0001c0001t0002g0260 others(2): Show |
6 | HG00280.hp2 NA18942.hp1 NA18954.hp2 others(3): Show |
intron_variant | MODIFIER | c.497+5267T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309549 | |||||||
| chr6:127309724 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.497+5092A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309724 | |||||||
| chr6:127309780 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+5036A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309780 | |||||||
| chr6:127309790 | T | A | 7 | a0001c0001t0002g0035 a0001c0001t0002g0244 a0001c0001t0002g0246 others(4): Show |
8 | HG02647.hp2 HG02717.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.497+5026A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309790 | |||||||
| chr6:127309793 | C | T | 7 | a0001c0001t0002g0035 a0001c0001t0002g0244 a0001c0001t0002g0246 others(4): Show |
8 | HG02647.hp2 HG02717.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.497+5023G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309793 | |||||||
| chr6:127309798 | G | A | 1 | a0001c0001t0002g0258 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.497+5018C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309798 | |||||||
| chr6:127309815 | C | T | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.497+5001G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309815 | |||||||
| chr6:127309818 | A | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+4998T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309818 | |||||||
| chr6:127309847 | A | T | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.497+4969T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309847 | |||||||
| chr6:127309920 | G | A | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.497+4896C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309920 | |||||||
| chr6:127309966 | C | A | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.497+4850G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309966 | |||||||
| chr6:127309968 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+4848A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127309968 | |||||||
| chr6:127310113 | G | A | 1 | a0001c0001t0001g0203 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.497+4703C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127310113 | |||||||
| chr6:127310135 | A | G | 1 | a0001c0001t0002g0275 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.497+4681T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127310135 | |||||||
| chr6:127310226 | C | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+4590G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127310226 | |||||||
| chr6:127310410 | G | T | 1 | a0001c0001t0001g0066 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.497+4406C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127310410 | |||||||
| chr6:127310540 | G | T | 1 | a0001c0001t0002g0264 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.497+4276C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127310540 | |||||||
| chr6:127310547 | A | C | 1 | a0001c0001t0001g0171 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.497+4269T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127310547 | |||||||
| chr6:127310609 | A | C | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.497+4207T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127310609 | |||||||
| chr6:127310682 | A | T | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.497+4134T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127310682 | |||||||
| chr6:127311008 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.497+3808T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311008 | |||||||
| chr6:127311040 | G | C | 3 | a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0272 |
3 | HG02055.hp1 HG03130.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.497+3776C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311040 | |||||||
| chr6:127311144 | A | G | 19 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(16): Show |
25 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.497+3672T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311144 | |||||||
| chr6:127311321 | A | G | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.497+3495T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311321 | |||||||
| chr6:127311396 | A | G | 1 | a0001c0001t0001g0062 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.497+3420T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311396 | |||||||
| chr6:127311400 | G | A | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.497+3416C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311400 | |||||||
| chr6:127311431 | T | C | 1 | a0001c0001t0001g0155 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.497+3385A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311431 | |||||||
| chr6:127311434 | G | A | 14 | a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0244 others(11): Show |
16 | HG02572.hp2 HG02647.hp2 HG02683.hp2 others(13): Show |
intron_variant | MODIFIER | c.497+3382C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311434 | |||||||
| chr6:127311493 | G | A | 1 | a0001c0001t0001g0156 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.497+3323C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311493 | |||||||
| chr6:127311548 | G | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+3268C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311548 | |||||||
| chr6:127311611 | T | C | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.497+3205A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311611 | |||||||
| chr6:127311669 | C | CA | 31 | a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0042 others(28): Show |
32 | HG00140.hp2 HG00423.hp2 HG00673.hp1 others(29): Show |
intron_variant | MODIFIER | c.497+3146dupT | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311669 | |||||||
| chr6:127311669 | C | CAA | 20 | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0031 others(17): Show |
26 | HG01099.hp1 HG01109.hp1 HG01109.hp2 others(23): Show |
intron_variant | MODIFIER | c.497+3145_497+3146d others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311669 | |||||||
| chr6:127311669 | C | CAAA | 8 | a0001c0001t0001g0030 a0001c0001t0001g0173 a0001c0001t0001g0177 others(5): Show |
9 | HG00408.hp1 HG02071.hp1 HG02602.hp2 others(6): Show |
intron_variant | MODIFIER | c.497+3144_497+3146d others(5): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311669 | |||||||
| chr6:127311669 | CA | C | 31 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0085 others(28): Show |
35 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(32): Show |
intron_variant | MODIFIER | c.497+3146delT | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311669 | |||||||
| chr6:127311669 | CAAAAAAA others(3): Show |
C | 1 | a0001c0001t0001g0139 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.497+3137_497+3146d others(12): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311669 | |||||||
| chr6:127311669 | CAAAAAAA others(4): Show |
C | 7 | a0001c0001t0001g0023 a0001c0001t0001g0135 a0001c0001t0001g0137 others(4): Show |
9 | HG01123.hp1 HG01257.hp1 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.497+3136_497+3146d others(13): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311669 | |||||||
| chr6:127311687 | A | G | 18 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(15): Show |
27 | HG01192.hp2 HG01243.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.497+3129T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311687 | |||||||
| chr6:127311688 | A | G | 35 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(32): Show |
50 | HG00423.hp1 HG00438.hp1 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.497+3128T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311688 | |||||||
| chr6:127311689 | A | G | 9 | a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0142 others(6): Show |
11 | HG00408.hp2 NA18939.hp1 NA18962.hp1 others(8): Show |
intron_variant | MODIFIER | c.497+3127T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311689 | |||||||
| chr6:127311692 | A | G | 18 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(15): Show |
27 | HG01192.hp2 HG01243.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.497+3124T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311692 | |||||||
| chr6:127311693 | A | G | 35 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(32): Show |
50 | HG00423.hp1 HG00438.hp1 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.497+3123T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311693 | |||||||
| chr6:127311694 | A | AAAG | 8 | a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 others(5): Show |
8 | HG02055.hp1 HG02630.hp1 HG03130.hp2 others(5): Show |
intron_variant | MODIFIER | c.497+3121_497+3122i others(5): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311694 | |||||||
| chr6:127311694 | A | G | 10 | a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0142 others(7): Show |
12 | HG00408.hp2 NA18939.hp1 NA18962.hp1 others(9): Show |
intron_variant | MODIFIER | c.497+3122T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311694 | |||||||
| chr6:127311697 | AAGAAAAG | A | 34 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(31): Show |
49 | HG00423.hp1 HG00438.hp1 HG00673.hp2 others(46): Show |
intron_variant | MODIFIER | c.497+3112_497+3118d others(9): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311697 | |||||||
| chr6:127311698 | AGAAAAG | A | 9 | a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0142 others(6): Show |
11 | HG00408.hp2 NA18939.hp1 NA18962.hp1 others(8): Show |
intron_variant | MODIFIER | c.497+3112_497+3117d others(8): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311698 | |||||||
| chr6:127311699 | G | A | 3 | a0001c0001t0001g0141 a0001c0001t0001g0178 a0001c0001t0001g0180 |
3 | HG00438.hp2 NA19000.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.497+3117C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311699 | |||||||
| chr6:127311699 | GAAAAGAA others(1): Show |
G | 18 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(15): Show |
27 | HG01192.hp2 HG01243.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.497+3109_497+3116d others(10): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311699 | |||||||
| chr6:127311700 | A | G | 1 | a0001c0001t0001g0141 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.497+3116T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311700 | |||||||
| chr6:127311703 | AG | A | 9 | a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 others(6): Show |
9 | HG02055.hp1 HG02630.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.497+3112delC | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311703 | |||||||
| chr6:127311707 | A | AAAAG | 128 | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0029 others(125): Show |
148 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
intron_variant | MODIFIER | c.497+3105_497+3108d others(6): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311707 | |||||||
| chr6:127311707 | A | G | 52 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(49): Show |
69 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(66): Show |
intron_variant | MODIFIER | c.497+3109T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311707 | |||||||
| chr6:127311768 | T | C | 1 | a0001c0001t0002g0223 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.497+3048A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311768 | |||||||
| chr6:127311789 | GA | G | 136 | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0029 others(133): Show |
154 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(151): Show |
intron_variant | MODIFIER | c.497+3026delT | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311789 | |||||||
| chr6:127311966 | G | A | 1 | a0001c0001t0001g0157 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.497+2850C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127311966 | |||||||
| chr6:127312058 | TA | T | 208 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(205): Show |
256 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.497+2757delT | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127312058 | |||||||
| chr6:127312493 | A | G | 1 | a0001c0001t0001g0051 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.497+2323T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127312493 | |||||||
| chr6:127312610 | G | A | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.497+2206C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127312610 | |||||||
| chr6:127312617 | C | T | 4 | a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0254 others(1): Show |
4 | NA18980.hp2 NA19002.hp1 NA19060.hp2 others(1): Show |
intron_variant | MODIFIER | c.497+2199G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127312617 | |||||||
| chr6:127312644 | C | G | 1 | a0001c0001t0001g0040 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.497+2172G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127312644 | |||||||
| chr6:127312665 | A | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+2151T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127312665 | |||||||
| chr6:127312814 | T | C | 226 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(223): Show |
277 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(274): Show |
intron_variant | MODIFIER | c.497+2002A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127312814 | |||||||
| chr6:127312927 | C | T | 25 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(22): Show |
27 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.497+1889G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127312927 | |||||||
| chr6:127313099 | G | T | 103 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(100): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.497+1717C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127313099 | |||||||
| chr6:127313197 | AATTT | A | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.497+1615_497+1618d others(6): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127313197 | |||||||
| chr6:127313302 | C | T | 49 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(46): Show |
52 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.497+1514G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127313302 | |||||||
| chr6:127313441 | G | T | 1 | a0001c0001t0001g0145 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.497+1375C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127313441 | |||||||
| chr6:127313562 | G | A | 1 | a0001c0001t0002g0256 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.497+1254C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127313562 | |||||||
| chr6:127313677 | A | T | 1 | a0001c0001t0002g0264 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.497+1139T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127313677 | |||||||
| chr6:127313776 | C | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+1040G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127313776 | |||||||
| chr6:127313841 | T | A | 1 | a0001c0001t0001g0158 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.497+975A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127313841 | |||||||
| chr6:127313992 | A | G | 3 | a0001c0001t0002g0263 a0001c0001t0002g0275 a0001c0001t0002g0276 |
3 | HG01358.hp2 HG01975.hp2 HG02004.hp2 |
intron_variant | MODIFIER | c.497+824T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127313992 | |||||||
| chr6:127314072 | G | A | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+744C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127314072 | |||||||
| chr6:127314140 | C | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.497+676G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127314140 | |||||||
| chr6:127314287 | A | G | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.497+529T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | 127314287 | |||||||
| chr6:127315588 | A | G | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.417-692T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127315588 | |||||||
| chr6:127315642 | A | T | 2 | a0001c0001t0001g0125 a0001c0001t0001g0144 |
2 | NA18965.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.417-746T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127315642 | |||||||
| chr6:127315678 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.416+772A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127315678 | |||||||
| chr6:127315815 | A | G | 1 | a0001c0001t0002g0248 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.416+635T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127315815 | |||||||
| chr6:127315822 | T | G | 1 | a0001c0001t0001g0067 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.416+628A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127315822 | |||||||
| chr6:127315876 | A | C | 1 | a0001c0001t0001g0011 | 3 | HG02132.hp2 NA18998.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.416+574T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127315876 | |||||||
| chr6:127316109 | T | C | 3 | a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0278 |
3 | HG01175.hp2 HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.416+341A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127316109 | |||||||
| chr6:127316229 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.416+221A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127316229 | |||||||
| chr6:127316237 | C | T | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.416+213G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127316237 | |||||||
| chr6:127316322 | T | C | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.416+128A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 4/5 | chr6 | 127316322 | |||||||
| chr6:127316547 | T | C | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.364-45A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127316547 | |||||||
| chr6:127316568 | T | C | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.364-66A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127316568 | |||||||
| chr6:127316894 | T | TA | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.364-393dupT | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127316894 | |||||||
| chr6:127316979 | A | G | 2 | a0001c0001t0007g0165 a0001c0001t0007g0166 |
2 | NA18982.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.364-477T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127316979 | |||||||
| chr6:127317046 | C | G | 1 | a0001c0001t0001g0177 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.364-544G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317046 | |||||||
| chr6:127317203 | A | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.364-701T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317203 | |||||||
| chr6:127317216 | ATTTC | A | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.364-718_364-715del others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317216 | |||||||
| chr6:127317342 | T | C | 1 | a0001c0001t0002g0225 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.364-840A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317342 | |||||||
| chr6:127317437 | T | G | 5 | a0001c0001t0001g0030 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
6 | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.364-935A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317437 | |||||||
| chr6:127317446 | A | G | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.364-944T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317446 | |||||||
| chr6:127317455 | C | G | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.364-953G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317455 | |||||||
| chr6:127317522 | T | C | 1 | a0001c0001t0001g0068 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.364-1020A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317522 | |||||||
| chr6:127317549 | TA | T | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.364-1048delT | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317549 | |||||||
| chr6:127317561 | C | T | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.364-1059G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317561 | |||||||
| chr6:127317766 | C | T | 103 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(100): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.364-1264G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127317766 | |||||||
| chr6:127318672 | C | T | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.364-2170G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127318672 | |||||||
| chr6:127318702 | T | G | 1 | a0001c0001t0002g0233 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.364-2200A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127318702 | |||||||
| chr6:127318707 | C | T | 1 | a0001c0001t0002g0254 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.364-2205G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127318707 | |||||||
| chr6:127318937 | A | G | 3 | a0001c0001t0001g0025 a0001c0001t0001g0142 a0001c0001t0001g0181 |
4 | HG00423.hp1 HG00438.hp1 NA18959.hp2 others(1): Show |
intron_variant | MODIFIER | c.364-2435T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127318937 | |||||||
| chr6:127319045 | A | G | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.364-2543T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127319045 | |||||||
| chr6:127319370 | A | C | 4 | a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0088 others(1): Show |
4 | HG01168.hp2 HG01169.hp1 HG02148.hp2 others(1): Show |
intron_variant | MODIFIER | c.364-2868T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127319370 | |||||||
| chr6:127319431 | A | G | 1 | a0001c0001t0002g0231 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.364-2929T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127319431 | |||||||
| chr6:127319648 | T | G | 1 | a0001c0001t0002g0033 | 2 | HG00735.hp2 HG02083.hp1 |
intron_variant | MODIFIER | c.364-3146A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127319648 | |||||||
| chr6:127320005 | G | A | 1 | a0001c0001t0002g0242 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.364-3503C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127320005 | |||||||
| chr6:127320057 | T | A | 279 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(276): Show |
354 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show |
intron_variant | MODIFIER | c.364-3555A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127320057 | |||||||
| chr6:127320275 | C | T | 1 | a0001c0001t0002g0211 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.364-3773G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127320275 | |||||||
| chr6:127320316 | C | T | 1 | a0001c0001t0001g0084 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.364-3814G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127320316 | |||||||
| chr6:127320398 | T | C | 1 | a0001c0001t0001g0181 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.364-3896A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127320398 | |||||||
| chr6:127320623 | T | C | 18 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(15): Show |
20 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.364-4121A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127320623 | |||||||
| chr6:127320813 | T | C | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.364-4311A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127320813 | |||||||
| chr6:127320815 | G | A | 31 | a0001c0001t0002g0036 a0001c0001t0002g0235 a0001c0001t0002g0236 others(28): Show |
32 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(29): Show |
intron_variant | MODIFIER | c.364-4313C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127320815 | |||||||
| chr6:127320866 | G | A | 1 | a0001c0001t0001g0084 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.364-4364C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127320866 | |||||||
| chr6:127321373 | C | G | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.364-4871G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127321373 | |||||||
| chr6:127321495 | G | C | 1 | a0001c0001t0003g0113 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.364-4993C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127321495 | |||||||
| chr6:127321558 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.364-5056A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127321558 | |||||||
| chr6:127321682 | T | C | 1 | a0001c0001t0001g0128 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.364-5180A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127321682 | |||||||
| chr6:127321706 | A | G | 3 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 |
3 | HG01496.hp1 HG02735.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.364-5204T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127321706 | |||||||
| chr6:127321726 | G | C | 1 | a0001c0001t0001g0180 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.364-5224C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127321726 | |||||||
| chr6:127322253 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.363+4749A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127322253 | |||||||
| chr6:127322272 | A | G | 1 | a0001c0001t0001g0177 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.363+4730T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127322272 | |||||||
| chr6:127322630 | C | CTA | 3 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 |
3 | HG01496.hp1 HG02735.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.363+4370_363+4371d others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127322630 | |||||||
| chr6:127322640 | A | G | 2 | a0001c0001t0002g0033 a0001c0001t0002g0247 |
3 | HG00735.hp2 HG02083.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.363+4362T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127322640 | |||||||
| chr6:127322646 | G | GTA | 81 | a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 others(78): Show |
87 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(84): Show |
intron_variant | MODIFIER | c.363+4354_363+4355d others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127322646 | |||||||
| chr6:127322646 | G | GTATA | 22 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(19): Show |
28 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(25): Show |
intron_variant | MODIFIER | c.363+4352_363+4355d others(6): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127322646 | |||||||
| chr6:127323280 | A | G | 1 | a0001c0001t0001g0161 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.363+3722T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127323280 | |||||||
| chr6:127323305 | T | A | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.363+3697A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127323305 | |||||||
| chr6:127323447 | A | C | 1 | a0001c0001t0001g0073 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.363+3555T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127323447 | |||||||
| chr6:127323487 | C | T | 5 | a0001c0001t0001g0030 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
6 | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.363+3515G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127323487 | |||||||
| chr6:127323494 | A | G | 5 | a0001c0001t0001g0030 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
6 | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.363+3508T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127323494 | |||||||
| chr6:127323745 | T | C | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.363+3257A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127323745 | |||||||
| chr6:127324044 | A | T | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.363+2958T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127324044 | |||||||
| chr6:127324224 | T | G | 1 | a0001c0001t0002g0245 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.363+2778A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127324224 | |||||||
| chr6:127324236 | A | G | 1 | a0001c0001t0002g0246 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.363+2766T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127324236 | |||||||
| chr6:127324259 | T | C | 2 | a0001c0001t0002g0035 a0001c0001t0002g0274 |
3 | HG02965.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.363+2743A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127324259 | |||||||
| chr6:127324574 | T | A | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.363+2428A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127324574 | |||||||
| chr6:127324810 | C | T | 1 | a0001c0001t0001g0133 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.363+2192G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127324810 | |||||||
| chr6:127324835 | C | T | 1 | a0001c0001t0001g0207 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.363+2167G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127324835 | |||||||
| chr6:127324969 | A | G | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.363+2033T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127324969 | |||||||
| chr6:127325143 | C | G | 1 | a0001c0001t0001g0141 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.363+1859G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127325143 | |||||||
| chr6:127325392 | T | C | 1 | a0001c0001t0001g0069 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.363+1610A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127325392 | |||||||
| chr6:127325504 | G | C | 102 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(99): Show |
114 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(111): Show |
intron_variant | MODIFIER | c.363+1498C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127325504 | |||||||
| chr6:127325711 | A | AT | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.363+1290dupA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127325711 | |||||||
| chr6:127325841 | C | T | 1 | a0001c0001t0001g0178 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.363+1161G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127325841 | |||||||
| chr6:127326061 | T | C | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.363+941A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127326061 | |||||||
| chr6:127326149 | A | T | 2 | a0001c0001t0004g0008 a0001c0001t0004g0038 |
4 | NA18946.hp2 NA18953.hp1 NA19064.hp1 others(1): Show |
intron_variant | MODIFIER | c.363+853T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127326149 | |||||||
| chr6:127326186 | G | A | 1 | a0001c0001t0001g0159 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.363+816C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127326186 | |||||||
| chr6:127326274 | C | A | 2 | a0001c0001t0001g0041 a0001c0001t0001g0093 |
2 | HG02572.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.363+728G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127326274 | |||||||
| chr6:127326361 | T | C | 1 | a0001c0001t0002g0259 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.363+641A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127326361 | |||||||
| chr6:127326728 | A | G | 1 | a0001c0001t0001g0170 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.363+274T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127326728 | |||||||
| chr6:127326758 | T | A | 1 | a0001c0001t0002g0281 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.363+244A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127326758 | |||||||
| chr6:127326846 | T | C | 1 | a0001c0001t0003g0118 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.363+156A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 3/5 | chr6 | 127326846 | |||||||
| chr6:127327321 | A | G | 1 | a0001c0001t0001g0122 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.221-177T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127327321 | |||||||
| chr6:127327385 | A | G | 1 | a0001c0001t0001g0192 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.221-241T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127327385 | |||||||
| chr6:127327501 | C | T | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.221-357G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127327501 | |||||||
| chr6:127328063 | T | C | 1 | a0001c0001t0002g0246 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.221-919A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328063 | |||||||
| chr6:127328063 | TG | T | 4 | a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 others(1): Show |
4 | HG00408.hp1 NA18959.hp1 NA19012.hp2 others(1): Show |
intron_variant | MODIFIER | c.221-920delC | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328063 | |||||||
| chr6:127328113 | C | A | 5 | a0001c0001t0001g0030 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
6 | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.221-969G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328113 | |||||||
| chr6:127328174 | A | C | 25 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(22): Show |
27 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.221-1030T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328174 | |||||||
| chr6:127328205 | C | T | 103 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(100): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.221-1061G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328205 | |||||||
| chr6:127328207 | T | C | 1 | a0001c0001t0002g0217 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.221-1063A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328207 | |||||||
| chr6:127328239 | C | T | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.221-1095G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328239 | |||||||
| chr6:127328316 | A | G | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.221-1172T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328316 | |||||||
| chr6:127328340 | A | C | 1 | a0001c0001t0001g0124 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.221-1196T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328340 | |||||||
| chr6:127328577 | C | A | 1 | a0001c0001t0001g0160 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.221-1433G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328577 | |||||||
| chr6:127328735 | C | T | 7 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 others(4): Show |
7 | NA18953.hp2 NA18955.hp2 NA18972.hp1 others(4): Show |
intron_variant | MODIFIER | c.221-1591G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328735 | |||||||
| chr6:127328819 | G | C | 1 | a0001c0001t0001g0161 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.221-1675C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328819 | |||||||
| chr6:127328899 | C | T | 1 | a0001c0001t0001g0023 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.221-1755G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328899 | |||||||
| chr6:127328944 | G | A | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.221-1800C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127328944 | |||||||
| chr6:127329112 | A | G | 29 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(26): Show |
36 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.220+1697T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329112 | |||||||
| chr6:127329154 | T | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.220+1655A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329154 | |||||||
| chr6:127329221 | C | G | 25 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(22): Show |
27 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.220+1588G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329221 | |||||||
| chr6:127329373 | A | ATT | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.220+1435_220+1436i others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329373 | |||||||
| chr6:127329487 | T | A | 3 | a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0274 |
3 | HG02965.hp2 HG02976.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.220+1322A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329487 | |||||||
| chr6:127329492 | T | C | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.220+1317A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329492 | |||||||
| chr6:127329615 | C | A | 1 | a0001c0001t0001g0127 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.220+1194G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329615 | |||||||
| chr6:127329744 | GTTAAAC | G | 2 | a0001c0001t0001g0031 a0001c0001t0001g0192 |
3 | HG01099.hp1 HG01109.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.220+1059_220+1064d others(8): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329744 | |||||||
| chr6:127329758 | T | C | 4 | a0001c0001t0001g0020 a0001c0001t0001g0127 a0001c0001t0001g0162 others(1): Show |
5 | HG02622.hp2 HG06807.hp2 NA18941.hp2 others(2): Show |
intron_variant | MODIFIER | c.220+1051A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329758 | |||||||
| chr6:127329971 | T | C | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.220+838A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127329971 | |||||||
| chr6:127330061 | A | T | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.220+748T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127330061 | |||||||
| chr6:127330068 | T | C | 29 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(26): Show |
36 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.220+741A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127330068 | |||||||
| chr6:127330234 | T | C | 2 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | NA19068.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.220+575A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127330234 | |||||||
| chr6:127330406 | A | C | 102 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(99): Show |
114 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(111): Show |
intron_variant | MODIFIER | c.220+403T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127330406 | |||||||
| chr6:127330406 | A | T | 1 | a0001c0001t0002g0261 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.220+403T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127330406 | |||||||
| chr6:127330626 | A | G | 1 | a0001c0001t0001g0175 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.220+183T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 2/5 | chr6 | 127330626 | |||||||
| chr6:127331151 | CT | C | 178 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(175): Show |
224 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(221): Show |
intron_variant | MODIFIER | c.-2-122delA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127331151 | |||||||
| chr6:127331302 | C | T | 49 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(46): Show |
52 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.-2-272G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127331302 | |||||||
| chr6:127331394 | C | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.-2-364G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127331394 | |||||||
| chr6:127331503 | T | C | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-2-473A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127331503 | |||||||
| chr6:127331585 | G | A | 1 | a0001c0001t0001g0168 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-2-555C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127331585 | |||||||
| chr6:127331884 | G | A | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-2-854C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127331884 | |||||||
| chr6:127332087 | A | G | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-2-1057T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332087 | |||||||
| chr6:127332117 | C | A | 1 | a0001c0001t0001g0089 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.-2-1087G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332117 | |||||||
| chr6:127332204 | C | T | 1 | a0001c0001t0001g0072 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-2-1174G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332204 | |||||||
| chr6:127332251 | T | G | 1 | a0001c0001t0001g0164 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.-2-1221A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332251 | |||||||
| chr6:127332298 | C | T | 2 | a0001c0001t0001g0070 a0001c0001t0001g0071 |
2 | HG01943.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.-2-1268G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332298 | |||||||
| chr6:127332457 | G | C | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.-2-1427C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332457 | |||||||
| chr6:127332473 | A | T | 1 | a0001c0001t0003g0104 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.-2-1443T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332473 | |||||||
| chr6:127332613 | G | A | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.-2-1583C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332613 | |||||||
| chr6:127332724 | A | T | 1 | a0001c0001t0001g0016 | 2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.-2-1694T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332724 | |||||||
| chr6:127332849 | TG | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.-2-1820delC | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332849 | |||||||
| chr6:127332957 | T | G | 5 | a0001c0001t0001g0030 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
6 | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.-2-1927A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127332957 | |||||||
| chr6:127333136 | C | A | 103 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(100): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.-2-2106G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333136 | |||||||
| chr6:127333137 | G | A | 1 | a0001c0001t0001g0092 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.-2-2107C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333137 | |||||||
| chr6:127333447 | T | C | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-2-2417A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333447 | |||||||
| chr6:127333666 | T | TAC | 22 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0041 others(19): Show |
26 | HG00642.hp2 HG01123.hp2 HG01175.hp2 others(23): Show |
intron_variant | MODIFIER | c.-2-2638_-2-2637dup others(2): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | T | TACAC | 6 | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0096 others(3): Show |
6 | HG00280.hp2 HG02809.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.-2-2640_-2-2637dup others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | T | TACACACA others(1): Show |
6 | a0001c0001t0001g0093 a0001c0001t0002g0034 a0001c0001t0002g0231 others(3): Show |
7 | HG01106.hp1 HG01192.hp1 HG01346.hp2 others(4): Show |
intron_variant | MODIFIER | c.-2-2644_-2-2637dup others(8): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | T | TACACACA others(3): Show |
1 | a0001c0001t0002g0234 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-2-2646_-2-2637dup others(10): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TAC | T | 43 | a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0060 others(40): Show |
48 | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(45): Show |
intron_variant | MODIFIER | c.-2-2638_-2-2637del others(2): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACAC | T | 31 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(28): Show |
36 | HG00673.hp1 HG01099.hp1 HG01109.hp2 others(33): Show |
intron_variant | MODIFIER | c.-2-2640_-2-2637del others(4): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACACAC | T | 8 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(5): Show |
8 | HG02145.hp2 NA18942.hp1 NA18953.hp2 others(5): Show |
intron_variant | MODIFIER | c.-2-2642_-2-2637del others(6): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACACACA others(1): Show |
T | 13 | a0001c0001t0001g0050 a0001c0001t0001g0190 a0001c0001t0003g0010 others(10): Show |
15 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.-2-2644_-2-2637del others(8): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACACACA others(3): Show |
T | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0003g0103 |
3 | HG03516.hp1 NA18946.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-2-2646_-2-2637del others(10): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACACACA others(5): Show |
T | 1 | a0001c0001t0001g0040 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-2-2648_-2-2637del others(12): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACACACA others(7): Show |
T | 2 | a0001c0001t0001g0122 a0001c0001t0001g0169 |
2 | HG01243.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.-2-2650_-2-2637del others(14): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACACACA others(9): Show |
T | 18 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(15): Show |
22 | HG00438.hp2 HG00733.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.-2-2652_-2-2637del others(16): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACACACA others(11): Show |
T | 63 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(60): Show |
90 | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(87): Show |
intron_variant | MODIFIER | c.-2-2654_-2-2637del others(18): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACACACA others(13): Show |
T | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-2-2656_-2-2637del others(20): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333666 | TACACACA others(21): Show |
T | 1 | a0001c0001t0001g0124 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-2-2664_-2-2637del others(28): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333666 | |||||||
| chr6:127333788 | T | C | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.-2-2758A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333788 | |||||||
| chr6:127333823 | A | T | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-2-2793T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127333823 | |||||||
| chr6:127334103 | T | A | 49 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(46): Show |
52 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.-2-3073A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334103 | |||||||
| chr6:127334282 | T | C | 76 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(73): Show |
106 | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(103): Show |
intron_variant | MODIFIER | c.-2-3252A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334282 | |||||||
| chr6:127334299 | T | C | 1 | a0001c0001t0002g0225 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.-2-3269A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334299 | |||||||
| chr6:127334340 | C | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.-2-3310G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334340 | |||||||
| chr6:127334384 | T | A | 1 | a0001c0001t0001g0014 | 3 | HG01192.hp2 HG02257.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.-2-3354A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334384 | |||||||
| chr6:127334469 | G | A | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.-2-3439C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334469 | |||||||
| chr6:127334546 | C | T | 2 | a0001c0001t0002g0241 a0001c0001t0002g0242 |
2 | NA19002.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.-2-3516G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334546 | |||||||
| chr6:127334604 | C | T | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-2-3574G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334604 | |||||||
| chr6:127334665 | T | A | 1 | a0001c0001t0001g0094 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-2-3635A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334665 | |||||||
| chr6:127334666 | C | A | 1 | a0001c0001t0001g0094 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-2-3636G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127334666 | |||||||
| chr6:127335099 | T | C | 1 | a0001c0001t0001g0022 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-2-4069A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127335099 | |||||||
| chr6:127335121 | G | C | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-2-4091C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127335121 | |||||||
| chr6:127335469 | C | T | 1 | a0001c0001t0001g0189 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.-2-4439G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127335469 | |||||||
| chr6:127335647 | G | T | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.-2-4617C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127335647 | |||||||
| chr6:127335819 | A | G | 71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
99 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.-2-4789T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127335819 | |||||||
| chr6:127335895 | C | A | 49 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(46): Show |
52 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.-2-4865G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127335895 | |||||||
| chr6:127335946 | T | C | 1 | a0001c0001t0001g0204 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.-2-4916A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127335946 | |||||||
| chr6:127335954 | T | C | 10 | a0001c0001t0002g0034 a0001c0001t0002g0226 a0001c0001t0002g0227 others(7): Show |
11 | HG01081.hp1 HG01106.hp1 HG01192.hp1 others(8): Show |
intron_variant | MODIFIER | c.-2-4924A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127335954 | |||||||
| chr6:127336181 | C | G | 8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.-2-5151G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127336181 | |||||||
| chr6:127336378 | A | G | 3 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 |
3 | HG00673.hp1 NA18948.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.-2-5348T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127336378 | |||||||
| chr6:127336437 | C | A | 2 | a0001c0001t0002g0037 a0001c0001t0002g0281 |
3 | HG02572.hp2 HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-2-5407G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127336437 | |||||||
| chr6:127336438 | C | G | 2 | a0001c0001t0002g0037 a0001c0001t0002g0281 |
3 | HG02572.hp2 HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-2-5408G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127336438 | |||||||
| chr6:127336501 | G | T | 1 | a0001c0001t0001g0177 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-2-5471C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127336501 | |||||||
| chr6:127336747 | C | A | 25 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(22): Show |
27 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.-2-5717G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127336747 | |||||||
| chr6:127336953 | T | C | 4 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show |
intron_variant | MODIFIER | c.-2-5923A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127336953 | |||||||
| chr6:127337037 | C | T | 2 | a0001c0001t0001g0045 a0001c0001t0001g0046 |
2 | HG02559.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.-2-6007G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337037 | |||||||
| chr6:127337073 | C | T | 3 | a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 |
3 | HG00642.hp2 HG01167.hp2 HG01257.hp2 |
intron_variant | MODIFIER | c.-2-6043G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337073 | |||||||
| chr6:127337076 | T | TA | 18 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(15): Show |
20 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.-2-6047_-2-6046ins others(1): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337076 | |||||||
| chr6:127337077 | G | A | 191 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(188): Show |
237 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(234): Show |
intron_variant | MODIFIER | c.-2-6047C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337077 | |||||||
| chr6:127337077 | G | T | 18 | a0001c0001t0003g0010 a0001c0001t0003g0103 a0001c0001t0003g0104 others(15): Show |
20 | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.-2-6047C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337077 | |||||||
| chr6:127337095 | T | C | 2 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | NA19068.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.-2-6065A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337095 | |||||||
| chr6:127337433 | G | A | 1 | a0001c0001t0001g0205 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.-3+5903C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337433 | |||||||
| chr6:127337494 | C | G | 11 | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0123 others(8): Show |
15 | HG01123.hp1 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.-3+5842G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337494 | |||||||
| chr6:127337710 | G | A | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.-3+5626C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337710 | |||||||
| chr6:127337719 | A | C | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.-3+5617T>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337719 | |||||||
| chr6:127337906 | C | T | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-3+5430G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127337906 | |||||||
| chr6:127338201 | T | A | 1 | a0001c0001t0001g0097 | 1 | NA19059.hp2 | intron_variant | MODIFIER | c.-3+5135A>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127338201 | |||||||
| chr6:127338328 | A | T | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.-3+5008T>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127338328 | |||||||
| chr6:127338664 | ATCCTACA others(10): Show |
A | 1 | a0001c0001t0001g0097 | 1 | NA19059.hp2 | intron_variant | MODIFIER | c.-3+4655_-3+4671del others(17): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127338664 | |||||||
| chr6:127338676 | T | C | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-3+4660A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127338676 | |||||||
| chr6:127339047 | T | C | 1 | a0001c0001t0001g0174 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.-3+4289A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127339047 | |||||||
| chr6:127339437 | C | T | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-3+3899G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127339437 | |||||||
| chr6:127339604 | C | T | 1 | a0001c0001t0001g0042 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.-3+3732G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127339604 | |||||||
| chr6:127339709 | A | ATTGCAGT others(1): Show |
8 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
11 | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.-3+3626_-3+3627ins others(8): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127339709 | |||||||
| chr6:127339731 | C | G | 76 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(73): Show |
106 | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(103): Show |
intron_variant | MODIFIER | c.-3+3605G>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127339731 | |||||||
| chr6:127339774 | CAA | C | 208 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(205): Show |
256 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(253): Show |
intron_variant | MODIFIER | c.-3+3560_-3+3561del others(2): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127339774 | |||||||
| chr6:127339931 | A | G | 1 | a0001c0001t0001g0041 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-3+3405T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127339931 | |||||||
| chr6:127339975 | C | T | 1 | a0001c0001t0002g0236 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.-3+3361G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127339975 | |||||||
| chr6:127340072 | T | C | 1 | a0001c0001t0002g0282 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-3+3264A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127340072 | |||||||
| chr6:127340183 | A | G | 1 | a0001c0001t0001g0132 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-3+3153T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127340183 | |||||||
| chr6:127340306 | C | T | 1 | a0001c0001t0006g0007 | 3 | HG02258.hp2 HG02280.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-3+3030G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127340306 | |||||||
| chr6:127340610 | C | T | 4 | a0001c0001t0001g0006 a0001c0001t0001g0129 a0001c0001t0001g0130 others(1): Show |
7 | HG01099.hp2 HG01255.hp2 HG01346.hp1 others(4): Show |
intron_variant | MODIFIER | c.-3+2726G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127340610 | |||||||
| chr6:127340742 | GT | G | 204 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(201): Show |
252 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(249): Show |
intron_variant | MODIFIER | c.-3+2593delA | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127340742 | |||||||
| chr6:127340966 | C | T | 5 | a0001c0001t0001g0030 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
6 | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.-3+2370G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127340966 | |||||||
| chr6:127341030 | G | C | 1 | a0001c0001t0001g0098 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-3+2306C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127341030 | |||||||
| chr6:127341168 | G | A | 1 | a0001c0001t0001g0176 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-3+2168C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127341168 | |||||||
| chr6:127341186 | T | C | 2 | a0001c0001t0002g0037 a0001c0001t0002g0281 |
3 | HG02572.hp2 HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-3+2150A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127341186 | |||||||
| chr6:127341227 | A | G | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-3+2109T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127341227 | |||||||
| chr6:127341507 | G | T | 1 | a0001c0001t0001g0040 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-3+1829C>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127341507 | |||||||
| chr6:127341541 | C | T | 1 | a0001c0001t0002g0235 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.-3+1795G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127341541 | |||||||
| chr6:127341565 | T | C | 49 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(46): Show |
52 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.-3+1771A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127341565 | |||||||
| chr6:127341971 | C | T | 103 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(100): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.-3+1365G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127341971 | |||||||
| chr6:127342035 | T | G | 6 | a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 others(3): Show |
6 | HG00741.hp1 HG01891.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-3+1301A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127342035 | |||||||
| chr6:127342259 | G | A | 5 | a0001c0001t0001g0030 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
6 | HG00438.hp2 HG00733.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.-3+1077C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127342259 | |||||||
| chr6:127342265 | A | G | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | NA18963.hp1 NA18991.hp1 |
intron_variant | MODIFIER | c.-3+1071T>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127342265 | |||||||
| chr6:127342335 | T | G | 1 | a0001c0001t0001g0099 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.-3+1001A>C | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127342335 | |||||||
| chr6:127342558 | C | T | 29 | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0033 others(26): Show |
36 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.-3+778G>A | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127342558 | |||||||
| chr6:127342777 | C | CCCTGTAT others(17): Show |
1 | a0001c0001t0001g0181 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.-3+535_-3+558dupTT others(22): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127342777 | |||||||
| chr6:127342778 | C | A | 1 | a0001c0001t0002g0282 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-3+558G>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127342778 | |||||||
| chr6:127342967 | T | C | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.-3+369A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127342967 | |||||||
| chr6:127343028 | T | C | 7 | a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 others(4): Show |
7 | HG00741.hp1 HG01891.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.-3+308A>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127343028 | |||||||
| chr6:127343078 | G | A | 2 | a0001c0001t0001g0022 a0001c0001t0001g0100 |
3 | HG02451.hp1 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-3+258C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127343078 | |||||||
| chr6:127343109 | G | C | 19 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0189 others(16): Show |
22 | HG00408.hp1 HG01099.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.-3+227C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127343109 | |||||||
| chr6:127343113 | G | A | 1 | a0001c0001t0001g0206 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-3+223C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127343113 | |||||||
| chr6:127343113 | G | C | 209 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(206): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.-3+223C>G | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127343113 | |||||||
| chr6:127343202 | G | A | 2 | a0001c0001t0001g0207 a0001c0001t0001g0208 |
2 | NA18945.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.-3+134C>T | ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | 127343202 |