Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 84288 |
| ensemblid | ENSG00000203666.13 |
| hgncid | 28166 |
| symbol | EFCAB2 |
| name | EF-hand calcium binding domain 2 |
| refseq_nuc | NM_032328.4 |
| refseq_prot | NP_115704.1 |
| ensembl_nuc | ENST00000366523.6 |
| ensembl_prot | ENSP00000355480.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 244969682 |
| end | 245087837 |
| strand | + |
| ver | v1.2 |
| region | chr1:244969682-245087837 |
| region5000 | chr1:244964682-245092837 |
| regionname0 | EFCAB2_chr1_244969682_245087837 |
| regionname5000 | EFCAB2_chr1_244964682_245092837 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 162 | 289 | 82 | 48 | 125 | 10 | 22 | 96 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | MADEK others(157): Show |
chr1 | 244964682 | 245092837 |
| a0002 | 0/0 | 162 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | MADEK others(157): Show |
chr1 | 244964682 | 245092837 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 486 | 201 | 67 | 28 | 85 | 6 | 13 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATGGC others(481): Show |
chr1 | 244964682 | 245092837 | ||
| a0001c0002 | 0/0 | 486 | 88 | 15 | 20 | 40 | 4 | 9 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATGGC others(481): Show |
chr1 | 244964682 | 245092837 | ||
| a0002c0003 | 0/0 | 486 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATGGC others(481): Show |
chr1 | 244964682 | 245092837 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 1418 | 111 | 55 | 14 | 26 | 3 | 12 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0001t0002 | 0/0 | 1418 | 5 | 5 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0001t0003 | 0/1 | 1418 | 75 | 1 | 14 | 55 | 3 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0001t0005 | 0/0 | 1418 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0001t0006 | 0/0 | 1418 | 2 | 2 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0001t0007 | 0/0 | 1418 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0001t0008 | 0/0 | 1418 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0001t0009 | 0/0 | 1418 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0001t0010 | 0/0 | 1418 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0001t0011 | 0/0 | 1418 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0002t0002 | 0/0 | 1418 | 80 | 15 | 18 | 35 | 4 | 8 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0001c0002t0004 | 0/0 | 1418 | 8 | 0 | 2 | 5 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| a0002c0003t0001 | 0/0 | 1418 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | ATTCC others(1413): Show |
chr1 | 244964682 | 245092837 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0147 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0285 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0001g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0002g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0002g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0002g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0042 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0091 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0003g0115 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0005g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0005g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0005g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0006g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0007g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0008g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0009g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0010g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0001t0011g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0085 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0168 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0212 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0255 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0256 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0002g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0004g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0004g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0004g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0004g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0004g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0004g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0004g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0001c0002t0004g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| a0002c0003t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0003 | g0091 | EUR | GBR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00099 | hp2 | a0001 | c0001 | t0003 | g0026 | EUR | GBR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00140 | hp1 | a0001 | c0002 | t0002 | g0212 | EUR | GBR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0135 | EUR | GBR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00280 | hp1 | a0001 | c0002 | t0002 | g0085 | EUR | FIN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0133 | EUR | FIN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00423 | hp2 | a0001 | c0002 | t0002 | g0258 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00597 | hp2 | a0001 | c0001 | t0003 | g0071 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00621 | hp1 | a0001 | c0002 | t0002 | g0200 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00621 | hp2 | a0001 | c0001 | t0003 | g0076 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00639 | hp1 | a0001 | c0002 | t0002 | g0171 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00639 | hp2 | a0001 | c0001 | t0003 | g0044 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0130 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00642 | hp2 | a0001 | c0002 | t0002 | g0149 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00673 | hp1 | a0001 | c0001 | t0003 | g0057 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | CHS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00735 | hp1 | a0001 | c0002 | t0002 | g0167 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00735 | hp2 | a0001 | c0002 | t0002 | g0159 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00738 | hp1 | a0001 | c0001 | t0003 | g0060 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00738 | hp2 | a0001 | c0002 | t0002 | g0098 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00741 | hp1 | a0001 | c0002 | t0002 | g0139 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0185 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01071 | hp1 | a0001 | c0001 | t0003 | g0036 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01071 | hp2 | a0001 | c0002 | t0002 | g0145 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0204 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01081 | hp2 | a0001 | c0002 | t0004 | g0046 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0129 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01099 | hp2 | a0001 | c0001 | t0003 | g0050 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0053 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01106 | hp2 | a0001 | c0002 | t0002 | g0140 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01109 | hp1 | a0001 | c0001 | t0003 | g0011 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0176 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0128 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01167 | hp2 | a0001 | c0001 | t0003 | g0064 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0023 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01192 | hp2 | a0001 | c0001 | t0003 | g0022 | AMR | PUR | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0205 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01255 | hp2 | a0001 | c0001 | t0003 | g0049 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01256 | hp1 | a0001 | c0001 | t0003 | g0005 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01256 | hp2 | a0001 | c0002 | t0002 | g0254 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0088 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01261 | hp2 | a0001 | c0002 | t0002 | g0100 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01358 | hp1 | a0001 | c0001 | t0003 | g0025 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01358 | hp2 | a0001 | c0002 | t0002 | g0150 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01361 | hp1 | a0001 | c0002 | t0002 | g0157 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01361 | hp2 | a0001 | c0001 | t0003 | g0032 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01433 | hp1 | a0001 | c0002 | t0002 | g0276 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01433 | hp2 | a0001 | c0002 | t0002 | g0246 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01496 | hp1 | a0001 | c0002 | t0004 | g0047 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0119 | AMR | CLM | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0142 | EUR | IBS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01515 | hp2 | a0001 | c0002 | t0002 | g0256 | EUR | IBS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01516 | hp1 | a0001 | c0001 | t0003 | g0042 | EUR | IBS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01516 | hp2 | a0001 | c0002 | t0002 | g0168 | EUR | IBS | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0268 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0103 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0187 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01978 | hp2 | a0001 | c0002 | t0002 | g0172 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01981 | hp2 | a0001 | c0001 | t0003 | g0059 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01993 | hp1 | a0001 | c0002 | t0002 | g0260 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG01993 | hp2 | a0001 | c0001 | t0003 | g0066 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02015 | hp1 | a0001 | c0001 | t0010 | g0237 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02015 | hp2 | a0001 | c0002 | t0004 | g0033 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02027 | hp1 | a0001 | c0002 | t0002 | g0261 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02027 | hp2 | a0001 | c0001 | t0003 | g0027 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02040 | hp1 | a0001 | c0001 | t0003 | g0067 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02055 | hp1 | a0001 | c0002 | t0002 | g0273 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0192 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02074 | hp1 | a0001 | c0001 | t0003 | g0016 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02074 | hp2 | a0001 | c0001 | t0003 | g0069 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02129 | hp1 | a0001 | c0002 | t0002 | g0289 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02129 | hp2 | a0001 | c0002 | t0004 | g0063 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02132 | hp1 | a0001 | c0001 | t0003 | g0051 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02132 | hp2 | a0001 | c0002 | t0002 | g0257 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02135 | hp1 | a0001 | c0001 | t0011 | g0278 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02135 | hp2 | a0001 | c0001 | t0003 | g0037 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0242 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02145 | hp2 | a0001 | c0001 | t0002 | g0193 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02148 | hp1 | a0001 | c0002 | t0002 | g0259 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0188 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02257 | hp1 | a0001 | c0001 | t0005 | g0191 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0178 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0125 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0089 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02280 | hp2 | a0001 | c0001 | t0003 | g0031 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02300 | hp1 | a0001 | c0002 | t0002 | g0249 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02300 | hp2 | a0001 | c0001 | t0003 | g0008 | AMR | PEL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02451 | hp1 | a0001 | c0002 | t0002 | g0154 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0108 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02523 | hp1 | a0002 | c0003 | t0001 | g0252 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02523 | hp2 | a0001 | c0002 | t0002 | g0233 | EAS | KHV | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0179 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0271 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02615 | hp1 | a0001 | c0002 | t0002 | g0156 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0180 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02630 | hp1 | a0001 | c0002 | t0002 | g0275 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0194 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0174 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0096 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0186 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0131 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0132 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02698 | hp2 | a0001 | c0002 | t0002 | g0184 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02717 | hp1 | a0001 | c0002 | t0002 | g0196 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0281 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0122 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0094 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02818 | hp2 | a0001 | c0002 | t0002 | g0152 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0283 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02895 | hp2 | a0001 | c0002 | t0002 | g0153 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02897 | hp1 | a0001 | c0002 | t0002 | g0158 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02897 | hp2 | a0001 | c0001 | t0002 | g0197 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0095 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0177 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0160 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0182 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0270 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02976 | hp2 | a0001 | c0001 | t0005 | g0190 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03017 | hp1 | a0001 | c0002 | t0002 | g0247 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03017 | hp2 | a0001 | c0002 | t0004 | g0065 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03041 | hp1 | a0001 | c0002 | t0002 | g0155 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0163 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0195 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0280 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0284 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0285 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0183 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0162 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0267 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03195 | hp2 | a0001 | c0002 | t0002 | g0137 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03209 | hp1 | a0001 | c0002 | t0002 | g0274 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0286 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0165 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0269 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0166 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0124 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0127 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03490 | hp2 | a0001 | c0002 | t0002 | g0170 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03492 | hp1 | a0001 | c0002 | t0002 | g0169 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03492 | hp2 | a0001 | c0002 | t0002 | g0148 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03516 | hp1 | a0001 | c0001 | t0006 | g0001 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0277 | AFR | ESN | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0113 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0118 | AFR | GWD | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0110 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03669 | hp2 | a0001 | c0002 | t0002 | g0253 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0101 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0146 | SAS | PJL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0241 | SAS | BEB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0106 | SAS | BEB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG04115 | hp1 | a0001 | c0002 | t0002 | g0255 | SAS | STU | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0105 | SAS | STU | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0234 | SAS | STU | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | STU | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | YRI | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18522 | hp2 | a0001 | c0001 | t0008 | g0288 | AFR | YRI | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18612 | hp1 | a0001 | c0001 | t0003 | g0007 | EAS | CHB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0090 | EAS | CHB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18747 | hp1 | a0001 | c0001 | t0003 | g0009 | EAS | CHB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0236 | EAS | CHB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0121 | AFR | YRI | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18906 | hp2 | a0001 | c0001 | t0006 | g0001 | AFR | YRI | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18941 | hp1 | a0001 | c0001 | t0003 | g0075 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18941 | hp2 | a0001 | c0002 | t0002 | g0250 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18943 | hp2 | a0001 | c0001 | t0003 | g0010 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18944 | hp1 | a0001 | c0002 | t0002 | g0244 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18944 | hp2 | a0001 | c0001 | t0003 | g0039 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18946 | hp1 | a0001 | c0001 | t0003 | g0102 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18946 | hp2 | a0001 | c0002 | t0002 | g0213 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18949 | hp1 | a0001 | c0001 | t0003 | g0029 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18949 | hp2 | a0001 | c0002 | t0002 | g0199 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18950 | hp2 | a0001 | c0001 | t0003 | g0035 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18952 | hp1 | a0001 | c0001 | t0003 | g0034 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18952 | hp2 | a0001 | c0002 | t0002 | g0222 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18960 | hp2 | a0001 | c0002 | t0002 | g0245 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18961 | hp1 | a0001 | c0001 | t0003 | g0002 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18962 | hp1 | a0001 | c0002 | t0002 | g0223 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18962 | hp2 | a0001 | c0001 | t0003 | g0078 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18966 | hp2 | a0001 | c0001 | t0003 | g0021 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18969 | hp1 | a0001 | c0001 | t0003 | g0017 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18969 | hp2 | a0001 | c0002 | t0002 | g0219 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18970 | hp1 | a0001 | c0001 | t0003 | g0082 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18970 | hp2 | a0001 | c0002 | t0004 | g0112 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18971 | hp1 | a0001 | c0001 | t0003 | g0062 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18971 | hp2 | a0001 | c0002 | t0002 | g0251 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18977 | hp1 | a0001 | c0001 | t0003 | g0038 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0264 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18978 | hp1 | a0001 | c0001 | t0003 | g0028 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0265 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18982 | hp1 | a0001 | c0001 | t0003 | g0048 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18983 | hp1 | a0001 | c0002 | t0004 | g0072 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0240 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18984 | hp1 | a0001 | c0001 | t0003 | g0079 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18986 | hp1 | a0001 | c0001 | t0003 | g0041 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18986 | hp2 | a0001 | c0002 | t0002 | g0263 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18988 | hp1 | a0001 | c0001 | t0003 | g0083 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18988 | hp2 | a0001 | c0002 | t0002 | g0224 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18989 | hp1 | a0001 | c0002 | t0002 | g0216 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18989 | hp2 | a0001 | c0001 | t0003 | g0020 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18992 | hp1 | a0001 | c0001 | t0003 | g0024 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18992 | hp2 | a0001 | c0001 | t0009 | g0232 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18993 | hp1 | a0001 | c0001 | t0003 | g0055 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18993 | hp2 | a0001 | c0002 | t0002 | g0214 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18998 | hp1 | a0001 | c0002 | t0002 | g0215 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18998 | hp2 | a0001 | c0001 | t0003 | g0043 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18999 | hp1 | a0001 | c0001 | t0003 | g0068 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA18999 | hp2 | a0001 | c0002 | t0002 | g0097 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19000 | hp1 | a0001 | c0001 | t0003 | g0056 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19000 | hp2 | a0001 | c0002 | t0002 | g0218 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19001 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19001 | hp2 | a0001 | c0001 | t0003 | g0111 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19002 | hp1 | a0001 | c0001 | t0003 | g0014 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19003 | hp1 | a0001 | c0001 | t0007 | g0243 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19003 | hp2 | a0001 | c0001 | t0003 | g0061 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19004 | hp1 | a0001 | c0001 | t0003 | g0012 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19004 | hp2 | a0001 | c0002 | t0002 | g0229 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19005 | hp1 | a0001 | c0002 | t0002 | g0217 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19005 | hp2 | a0001 | c0001 | t0003 | g0084 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19007 | hp1 | a0001 | c0001 | t0003 | g0058 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19010 | hp1 | a0001 | c0002 | t0002 | g0099 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19010 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0287 | AFR | LWK | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0143 | AFR | LWK | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19056 | hp2 | a0001 | c0002 | t0002 | g0262 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19062 | hp1 | a0001 | c0002 | t0002 | g0227 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19062 | hp2 | a0001 | c0001 | t0003 | g0077 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19065 | hp1 | a0001 | c0002 | t0002 | g0248 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19065 | hp2 | a0001 | c0001 | t0003 | g0070 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19070 | hp1 | a0001 | c0002 | t0002 | g0228 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19070 | hp2 | a0001 | c0001 | t0003 | g0030 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19072 | hp1 | a0001 | c0001 | t0003 | g0073 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19077 | hp1 | a0001 | c0001 | t0003 | g0045 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19077 | hp2 | a0001 | c0002 | t0002 | g0117 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19078 | hp1 | a0001 | c0001 | t0003 | g0015 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19078 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19080 | hp1 | a0001 | c0002 | t0002 | g0221 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19080 | hp2 | a0001 | c0001 | t0003 | g0040 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19081 | hp1 | a0001 | c0002 | t0002 | g0116 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19081 | hp2 | a0001 | c0002 | t0004 | g0054 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19083 | hp1 | a0001 | c0002 | t0002 | g0226 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19083 | hp2 | a0001 | c0001 | t0003 | g0013 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19086 | hp1 | a0001 | c0001 | t0003 | g0074 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19086 | hp2 | a0001 | c0002 | t0002 | g0225 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19088 | hp2 | a0001 | c0001 | t0003 | g0114 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19090 | hp1 | a0001 | c0001 | t0003 | g0081 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19091 | hp1 | a0001 | c0002 | t0002 | g0220 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19091 | hp2 | a0001 | c0001 | t0003 | g0080 | EAS | JPT | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0282 | AFR | YRI | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0126 | AFR | YRI | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0092 | AFR | ASW | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0272 | AFR | ASW | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA20905 | hp1 | a0001 | c0001 | t0003 | g0052 | SAS | GIH | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0109 | SAS | GIH | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02109 | hp1 | a0001 | c0002 | t0002 | g0086 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02109 | hp2 | a0001 | c0002 | t0002 | g0173 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0161 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0123 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0138 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0134 | AFR | ACB | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03471 | hp1 | a0001 | c0001 | t0002 | g0198 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0279 | AFR | MSL | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG06807 | hp1 | a0001 | c0002 | t0002 | g0141 | AFR | USA | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| HG06807 | hp2 | a0001 | c0001 | t0005 | g0136 | AFR | USA | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0181 | AFR | USA | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0189 | AFR | USA | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA21309 | hp1 | a0001 | c0002 | t0002 | g0151 | AFR | LWK | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0164 | AFR | LWK | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0003 | g0115 | REF | REF | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0147 | REF | REF | EFCAB2_chr1_244964682_245092837 | EFCAB2 | chr1 | 244964682 | 245092837 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:245017290 | T | C | 1 | a0002 | 1 | HG02523.hp1 | missense_variant | MODERATE | c.74T>C | p.Val25Ala | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/8 | 526/1418 | 74/489 | 25/162 | chr1 | 245017290 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:245082100 | C | T | 1 | a0001c0002 | 88 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(85): Show |
synonymous_variant | LOW | c.201C>T | p.Pro67Pro | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/8 | 653/1418 | 201/489 | 67/162 | chr1 | 245082100 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:244969729 | C | A | 1 | a0001c0001t0007 | 1 | NA19003.hp1 | 5_prime_UTR_variant | MODIFIER | c.-405C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/8 | 690 | chr1 | 244969729 | ||||||
| chr1:244969760 | T | G | 1 | a0001c0001t0008 | 1 | NA18522.hp2 | 5_prime_UTR_variant | MODIFIER | c.-374T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/8 | 659 | chr1 | 244969760 | ||||||
| chr1:244969789 | G | C | 1 | a0001c0001t0008 | 1 | NA18522.hp2 | 5_prime_UTR_variant | MODIFIER | c.-345G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/8 | 630 | chr1 | 244969789 | ||||||
| chr1:244970360 | G | C | 2 | a0001c0001t0003 a0001c0002t0004 |
82 | HG00099.hp1 HG00099.hp2 HG00597.hp2 others(79): Show |
5_prime_UTR_variant | MODIFIER | c.-59G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/8 | 59 | chr1 | 244970360 | ||||||
| chr1:245087427 | A | T | 1 | a0001c0001t0006 | 2 | HG03516.hp1 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*67A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 8/8 | 67 | chr1 | 245087427 | ||||||
| chr1:245087494 | T | A | 1 | a0001c0001t0009 | 1 | NA18992.hp2 | 3_prime_UTR_variant | MODIFIER | c.*134T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 8/8 | 134 | chr1 | 245087494 | ||||||
| chr1:245087538 | T | C | 1 | a0001c0001t0010 | 1 | HG02015.hp1 | 3_prime_UTR_variant | MODIFIER | c.*178T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 8/8 | 178 | chr1 | 245087538 | ||||||
| chr1:245087600 | A | G | 1 | a0001c0001t0011 | 1 | HG02135.hp1 | 3_prime_UTR_variant | MODIFIER | c.*240A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 8/8 | 240 | chr1 | 245087600 | ||||||
| chr1:245087718 | G | T | 3 | a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
3_prime_UTR_variant | MODIFIER | c.*358G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 8/8 | 358 | chr1 | 245087718 | ||||||
| chr1:245087740 | C | T | 1 | a0001c0001t0005 | 3 | HG02257.hp1 HG02976.hp2 HG06807.hp2 |
3_prime_UTR_variant | MODIFIER | c.*380C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 8/8 | 380 | chr1 | 245087740 | ||||||
| chr1:245087794 | A | G | 1 | a0001c0001t0005 | 3 | HG02257.hp1 HG02976.hp2 HG06807.hp2 |
3_prime_UTR_variant | MODIFIER | c.*434A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 8/8 | 434 | chr1 | 245087794 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:244970096 | G | T | 1 | a0001c0002t0002g0289 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-91+53G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | chr1 | 244970096 | |||||||
| chr1:244970187 | T | G | 113 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(110): Show |
113 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(110): Show |
intron_variant | MODIFIER | c.-90-142T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | chr1 | 244970187 | |||||||
| chr1:244970201 | T | G | 2 | a0001c0001t0003g0002 a0001c0001t0003g0003 |
2 | NA18961.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.-90-128T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | chr1 | 244970201 | |||||||
| chr1:244970247 | GGC | G | 111 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(108): Show |
111 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(108): Show |
intron_variant | MODIFIER | c.-90-75_-90-74delGC | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | 244970247 | ||||||
| chr1:244970298 | C | T | 7 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(4): Show |
7 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.-90-31C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | chr1 | 244970298 | |||||||
| chr1:244970302 | C | T | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-90-27C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | chr1 | 244970302 | |||||||
| chr1:244970321 | T | TCCTCC | 114 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(111): Show |
114 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
splice_acceptor_variant&intron_variant | HIGH | c.-90-7_-90-3dupCCTC others(1): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | 244970321 | ||||||
| chr1:244970444 | G | A | 2 | a0001c0002t0002g0116 a0001c0002t0002g0117 |
2 | NA19077.hp2 NA19081.hp1 |
splice_donor_variant&intron_variant | HIGH | c.25+1G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970444 | |||||||
| chr1:244970455 | G | C | 1 | a0001c0001t0003g0007 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.25+12G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970455 | |||||||
| chr1:244970587 | G | A | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.25+144G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970587 | |||||||
| chr1:244970599 | C | T | 5 | a0001c0001t0001g0277 a0001c0002t0002g0273 a0001c0002t0002g0274 others(2): Show |
5 | HG01433.hp1 HG02055.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.25+156C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970599 | |||||||
| chr1:244970620 | G | GCCCGCCC others(37): Show |
1 | a0001c0001t0001g0279 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.25+206_25+207insGG others(42): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970620 | ||||||
| chr1:244970620 | G | GCCCGCCC others(59): Show |
1 | a0001c0001t0001g0280 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.25+206_25+207insGG others(64): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970620 | ||||||
| chr1:244970638 | T | TCCGCC | 4 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(1): Show |
4 | HG01496.hp2 HG02723.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.25+211_25+215dupCC others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970638 | ||||||
| chr1:244970638 | TCCGCC | T | 8 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(5): Show |
9 | HG02055.hp2 HG02145.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+211_25+215delCC others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970638 | ||||||
| chr1:244970638 | TCCGCCCC others(21): Show |
T | 189 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(186): Show |
189 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show |
intron_variant | MODIFIER | c.25+211_25+238delCC others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970638 | ||||||
| chr1:244970641 | G | GCCCCGCC others(16): Show |
32 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(29): Show |
32 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(29): Show |
intron_variant | MODIFIER | c.25+225_25+247dupCG others(21): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970641 | ||||||
| chr1:244970641 | G | GCCCCGCC others(39): Show |
2 | a0001c0001t0001g0164 a0001c0002t0002g0274 |
2 | HG03209.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.25+202_25+247dupCG others(44): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970641 | ||||||
| chr1:244970641 | G | GCTCCGCC others(21): Show |
1 | a0001c0001t0001g0178 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.25+199_25+200insTC others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970641 | ||||||
| chr1:244970646 | G | GCCCCGCC others(16): Show |
2 | a0001c0001t0001g0124 a0001c0001t0001g0125 |
2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.25+215_25+216insCC others(21): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970646 | ||||||
| chr1:244970685 | C | G | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.25+242C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970685 | |||||||
| chr1:244970690 | C | CCGCCCCG others(16): Show |
1 | a0001c0001t0003g0008 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.25+247_25+248insCG others(21): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970690 | |||||||
| chr1:244970690 | C | G | 118 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(115): Show |
118 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(115): Show |
intron_variant | MODIFIER | c.25+247C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970690 | |||||||
| chr1:244970752 | A | T | 1 | a0001c0001t0003g0114 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.25+309A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970752 | |||||||
| chr1:244970784 | TC | T | 125 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(122): Show |
125 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(122): Show |
intron_variant | MODIFIER | c.25+346delC | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244970784 | ||||||
| chr1:244970804 | G | A | 1 | a0001c0001t0001g0123 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.25+361G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970804 | |||||||
| chr1:244970806 | C | A | 1 | a0001c0001t0003g0009 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.25+363C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970806 | |||||||
| chr1:244970812 | A | C | 125 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(122): Show |
125 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(122): Show |
intron_variant | MODIFIER | c.25+369A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970812 | |||||||
| chr1:244970905 | T | A | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+462T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970905 | |||||||
| chr1:244970938 | G | A | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.25+495G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970938 | |||||||
| chr1:244970969 | G | T | 1 | a0001c0001t0001g0113 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.25+526G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970969 | |||||||
| chr1:244970970 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.25+527G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970970 | |||||||
| chr1:244970983 | A | G | 1 | a0001c0001t0002g0198 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.25+540A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244970983 | |||||||
| chr1:244971014 | G | C | 1 | a0001c0001t0003g0010 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.25+571G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244971014 | |||||||
| chr1:244971109 | T | C | 1 | a0001c0001t0001g0124 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.25+666T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244971109 | |||||||
| chr1:244971177 | C | T | 1 | a0001c0002t0004g0112 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.25+734C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244971177 | |||||||
| chr1:244971204 | TA | T | 7 | a0001c0001t0001g0123 a0001c0001t0001g0181 a0001c0001t0001g0182 others(4): Show |
7 | HG02486.hp2 HG02698.hp2 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.25+774delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244971204 | ||||||
| chr1:244971338 | G | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.25+895G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244971338 | |||||||
| chr1:244971366 | G | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+923G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244971366 | |||||||
| chr1:244971381 | T | A | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+938T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244971381 | |||||||
| chr1:244971394 | A | G | 1 | a0001c0001t0001g0287 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.25+951A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244971394 | |||||||
| chr1:244971513 | T | G | 139 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(136): Show |
intron_variant | MODIFIER | c.25+1070T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244971513 | |||||||
| chr1:244971923 | C | T | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.25+1480C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244971923 | |||||||
| chr1:244971958 | C | CA | 114 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(111): Show |
115 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.25+1533dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244971958 | ||||||
| chr1:244971958 | C | CAA | 55 | a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 others(52): Show |
55 | HG00423.hp2 HG01109.hp1 HG01256.hp2 others(52): Show |
intron_variant | MODIFIER | c.25+1532_25+1533dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244971958 | ||||||
| chr1:244971958 | C | CAAA | 14 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(11): Show |
14 | HG00140.hp1 HG00597.hp1 HG00609.hp1 others(11): Show |
intron_variant | MODIFIER | c.25+1531_25+1533dup others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244971958 | ||||||
| chr1:244971958 | CAAAAAAA others(1): Show |
C | 9 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+1526_25+1533del others(8): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244971958 | ||||||
| chr1:244972007 | A | G | 71 | a0001c0001t0001g0118 a0001c0001t0001g0201 a0001c0001t0001g0202 others(68): Show |
71 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(68): Show |
intron_variant | MODIFIER | c.25+1564A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972007 | |||||||
| chr1:244972042 | G | A | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+1599G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972042 | |||||||
| chr1:244972063 | CTG | C | 7 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(4): Show |
7 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.25+1621_25+1622del others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972063 | |||||||
| chr1:244972256 | T | A | 2 | a0001c0001t0005g0136 a0001c0001t0005g0190 |
2 | HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.25+1813T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972256 | |||||||
| chr1:244972284 | A | G | 1 | a0001c0001t0001g0180 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.25+1841A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972284 | |||||||
| chr1:244972320 | A | C | 7 | a0001c0001t0003g0007 a0001c0001t0003g0078 a0001c0001t0003g0079 others(4): Show |
7 | NA18612.hp1 NA18962.hp2 NA18970.hp1 others(4): Show |
intron_variant | MODIFIER | c.25+1877A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972320 | |||||||
| chr1:244972320 | A | G | 1 | a0001c0001t0003g0084 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.25+1877A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972320 | |||||||
| chr1:244972412 | T | C | 131 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(128): Show |
131 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
intron_variant | MODIFIER | c.25+1969T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972412 | |||||||
| chr1:244972430 | G | T | 3 | a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 |
3 | HG01993.hp1 HG02027.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.25+1987G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972430 | |||||||
| chr1:244972609 | A | T | 1 | a0001c0001t0003g0010 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.25+2166A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972609 | |||||||
| chr1:244972731 | T | C | 211 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(208): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.25+2288T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972731 | |||||||
| chr1:244972815 | C | CA | 16 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 others(13): Show |
16 | HG00741.hp2 HG02055.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.25+2387dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244972815 | ||||||
| chr1:244972825 | A | C | 10 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(7): Show |
10 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(7): Show |
intron_variant | MODIFIER | c.25+2382A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972825 | |||||||
| chr1:244972845 | A | G | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+2402A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972845 | |||||||
| chr1:244972910 | T | C | 1 | a0001c0001t0001g0127 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.25+2467T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972910 | |||||||
| chr1:244972941 | G | A | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+2498G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244972941 | |||||||
| chr1:244973029 | A | G | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+2586A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244973029 | |||||||
| chr1:244973226 | CTAATA | C | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+2789_25+2793del others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244973226 | ||||||
| chr1:244973369 | G | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+2926G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244973369 | |||||||
| chr1:244973413 | A | G | 6 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(3): Show |
6 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.25+2970A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244973413 | |||||||
| chr1:244973536 | A | G | 1 | a0001c0001t0003g0007 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.25+3093A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244973536 | |||||||
| chr1:244973548 | A | G | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+3105A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244973548 | |||||||
| chr1:244973855 | TTACC | T | 22 | a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0213 others(19): Show |
22 | HG00621.hp1 HG01993.hp1 HG02148.hp1 others(19): Show |
intron_variant | MODIFIER | c.25+3415_25+3418del others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244973855 | ||||||
| chr1:244973884 | C | G | 2 | a0001c0001t0003g0077 a0001c0001t0003g0111 |
2 | NA19001.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.25+3441C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244973884 | |||||||
| chr1:244973946 | G | A | 11 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(8): Show |
12 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.25+3503G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244973946 | |||||||
| chr1:244974076 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.25+3633C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244974076 | |||||||
| chr1:244974649 | G | A | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+4206G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244974649 | |||||||
| chr1:244974726 | C | T | 1 | a0001c0001t0003g0076 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.25+4283C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244974726 | |||||||
| chr1:244974761 | C | G | 2 | a0001c0001t0001g0109 a0001c0001t0001g0110 |
2 | HG03669.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.25+4318C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244974761 | |||||||
| chr1:244974763 | C | G | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+4320C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244974763 | |||||||
| chr1:244974779 | C | T | 42 | a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0199 others(39): Show |
42 | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(39): Show |
intron_variant | MODIFIER | c.25+4336C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244974779 | |||||||
| chr1:244974856 | C | T | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+4413C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244974856 | |||||||
| chr1:244974944 | T | A | 1 | a0001c0002t0002g0289 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.25+4501T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244974944 | |||||||
| chr1:244975024 | A | G | 17 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(14): Show |
18 | HG01109.hp2 HG02055.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.25+4581A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975024 | |||||||
| chr1:244975079 | T | C | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+4636T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975079 | |||||||
| chr1:244975131 | C | T | 5 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(2): Show |
5 | HG01891.hp1 HG02572.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.25+4688C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975131 | |||||||
| chr1:244975181 | C | T | 5 | a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 others(2): Show |
5 | HG00140.hp2 HG00280.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.25+4738C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975181 | |||||||
| chr1:244975212 | G | A | 1 | a0001c0001t0003g0016 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.25+4769G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975212 | |||||||
| chr1:244975241 | G | A | 1 | a0001c0001t0001g0186 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.25+4798G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975241 | |||||||
| chr1:244975415 | T | G | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+4972T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975415 | |||||||
| chr1:244975446 | G | A | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+5003G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975446 | |||||||
| chr1:244975465 | A | C | 1 | a0001c0001t0007g0243 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.25+5022A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975465 | |||||||
| chr1:244975484 | A | T | 12 | a0001c0001t0003g0009 a0001c0001t0003g0066 a0001c0001t0003g0067 others(9): Show |
12 | HG00597.hp2 HG00621.hp2 HG01993.hp2 others(9): Show |
intron_variant | MODIFIER | c.25+5041A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975484 | |||||||
| chr1:244975750 | C | T | 5 | a0001c0001t0001g0277 a0001c0002t0002g0273 a0001c0002t0002g0274 others(2): Show |
5 | HG01433.hp1 HG02055.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.25+5307C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244975750 | |||||||
| chr1:244976094 | C | T | 1 | a0001c0002t0004g0065 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.25+5651C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976094 | |||||||
| chr1:244976140 | T | G | 211 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(208): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.25+5697T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976140 | |||||||
| chr1:244976210 | A | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+5767A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976210 | |||||||
| chr1:244976223 | C | T | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+5780C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976223 | |||||||
| chr1:244976291 | A | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+5848A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976291 | |||||||
| chr1:244976307 | CT | C | 202 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(199): Show |
202 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
intron_variant | MODIFIER | c.25+5868delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244976307 | ||||||
| chr1:244976535 | C | T | 1 | a0001c0001t0001g0287 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.25+6092C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976535 | |||||||
| chr1:244976537 | G | A | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+6094G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976537 | |||||||
| chr1:244976619 | C | G | 5 | a0001c0001t0001g0277 a0001c0002t0002g0273 a0001c0002t0002g0274 others(2): Show |
5 | HG01433.hp1 HG02055.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.25+6176C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976619 | |||||||
| chr1:244976903 | G | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+6460G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976903 | |||||||
| chr1:244976997 | G | C | 27 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(24): Show |
27 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.25+6554G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244976997 | |||||||
| chr1:244977138 | A | G | 222 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(219): Show |
222 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
intron_variant | MODIFIER | c.25+6695A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977138 | |||||||
| chr1:244977192 | G | A | 201 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(198): Show |
201 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
intron_variant | MODIFIER | c.25+6749G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977192 | |||||||
| chr1:244977213 | C | T | 2 | a0001c0001t0003g0002 a0001c0001t0003g0003 |
2 | NA18961.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.25+6770C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977213 | |||||||
| chr1:244977323 | G | A | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+6880G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977323 | |||||||
| chr1:244977339 | A | G | 2 | a0001c0002t0002g0257 a0001c0002t0002g0258 |
2 | HG00423.hp2 HG02132.hp2 |
intron_variant | MODIFIER | c.25+6896A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977339 | |||||||
| chr1:244977352 | A | G | 131 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(128): Show |
131 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
intron_variant | MODIFIER | c.25+6909A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977352 | |||||||
| chr1:244977547 | G | T | 1 | a0001c0002t0002g0173 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.25+7104G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977547 | |||||||
| chr1:244977582 | C | T | 1 | a0001c0001t0001g0108 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.25+7139C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977582 | |||||||
| chr1:244977635 | T | C | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+7192T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977635 | |||||||
| chr1:244977648 | ACT | A | 9 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+7210_25+7211del others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244977648 | ||||||
| chr1:244977809 | A | G | 6 | a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 others(3): Show |
6 | HG00639.hp1 HG00735.hp1 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.25+7366A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977809 | |||||||
| chr1:244977831 | C | A | 202 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(199): Show |
202 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
intron_variant | MODIFIER | c.25+7388C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977831 | |||||||
| chr1:244977839 | T | C | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.25+7396T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244977839 | |||||||
| chr1:244978107 | G | A | 1 | a0001c0001t0003g0076 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.25+7664G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978107 | |||||||
| chr1:244978248 | C | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+7805C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978248 | |||||||
| chr1:244978365 | T | C | 7 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(4): Show |
7 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.25+7922T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978365 | |||||||
| chr1:244978466 | A | C | 1 | a0001c0002t0002g0260 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.25+8023A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978466 | |||||||
| chr1:244978491 | C | CA | 129 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(126): Show |
129 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.25+8064dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244978491 | ||||||
| chr1:244978491 | CA | C | 68 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(65): Show |
68 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.25+8064delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244978491 | ||||||
| chr1:244978635 | G | A | 1 | a0001c0002t0002g0139 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.25+8192G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978635 | |||||||
| chr1:244978729 | A | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+8286A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978729 | |||||||
| chr1:244978732 | C | G | 130 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(127): Show |
130 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.25+8289C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978732 | |||||||
| chr1:244978864 | T | C | 9 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+8421T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978864 | |||||||
| chr1:244978871 | T | A | 4 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0231 others(1): Show |
4 | NA18950.hp1 NA18960.hp1 NA18961.hp2 others(1): Show |
intron_variant | MODIFIER | c.25+8428T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978871 | |||||||
| chr1:244978940 | A | T | 211 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(208): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.25+8497A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978940 | |||||||
| chr1:244978954 | A | G | 210 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(207): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
intron_variant | MODIFIER | c.25+8511A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978954 | |||||||
| chr1:244978965 | CAAT | C | 6 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(3): Show |
6 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.25+8523_25+8525del others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244978965 | |||||||
| chr1:244979044 | C | T | 8 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(5): Show |
8 | HG02486.hp1 HG02615.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.25+8601C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979044 | |||||||
| chr1:244979089 | T | C | 2 | a0001c0002t0002g0085 a0001c0002t0002g0086 |
2 | HG00280.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.25+8646T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979089 | |||||||
| chr1:244979143 | T | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+8700T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979143 | |||||||
| chr1:244979292 | C | CT | 25 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0126 others(22): Show |
26 | HG00735.hp2 HG00741.hp1 HG01361.hp1 others(23): Show |
intron_variant | MODIFIER | c.25+8879dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244979292 | ||||||
| chr1:244979292 | CT | C | 10 | a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0181 others(7): Show |
10 | HG02572.hp2 HG02723.hp2 HG02970.hp2 others(7): Show |
intron_variant | MODIFIER | c.25+8879delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244979292 | ||||||
| chr1:244979292 | CTT | C | 41 | a0001c0001t0001g0004 a0001c0001t0001g0053 a0001c0001t0001g0104 others(38): Show |
41 | HG00609.hp2 HG00621.hp2 HG00673.hp1 others(38): Show |
intron_variant | MODIFIER | c.25+8878_25+8879del others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244979292 | ||||||
| chr1:244979292 | CTTT | C | 79 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(76): Show |
79 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.25+8877_25+8879del others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244979292 | ||||||
| chr1:244979292 | CTTTT | C | 14 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0127 others(11): Show |
14 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(11): Show |
intron_variant | MODIFIER | c.25+8876_25+8879del others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244979292 | ||||||
| chr1:244979292 | CTTTTT | C | 10 | a0001c0001t0001g0211 a0001c0001t0001g0241 a0001c0001t0001g0265 others(7): Show |
10 | HG00597.hp1 HG01256.hp2 HG02148.hp1 others(7): Show |
intron_variant | MODIFIER | c.25+8875_25+8879del others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244979292 | ||||||
| chr1:244979292 | CTTTTTT | C | 59 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(56): Show |
59 | HG00140.hp1 HG00423.hp2 HG00609.hp1 others(56): Show |
intron_variant | MODIFIER | c.25+8874_25+8879del others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244979292 | ||||||
| chr1:244979292 | CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0001g0087 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.25+8868_25+8879del others(12): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244979292 | ||||||
| chr1:244979293 | T | C | 1 | a0001c0001t0001g0123 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.25+8850T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979293 | |||||||
| chr1:244979392 | G | T | 1 | a0001c0002t0002g0253 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.25+8949G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979392 | |||||||
| chr1:244979405 | A | C | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.25+8962A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979405 | |||||||
| chr1:244979557 | T | C | 211 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(208): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.25+9114T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979557 | |||||||
| chr1:244979586 | G | A | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.25+9143G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979586 | |||||||
| chr1:244979661 | G | A | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.25+9218G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979661 | |||||||
| chr1:244979684 | C | T | 1 | a0001c0002t0002g0155 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.25+9241C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979684 | |||||||
| chr1:244979942 | C | T | 21 | a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0161 others(18): Show |
21 | HG01109.hp2 HG01433.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.25+9499C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244979942 | |||||||
| chr1:244980040 | T | TA | 27 | a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 others(24): Show |
28 | HG00735.hp1 HG01106.hp2 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.25+9626dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAA | 6 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 others(3): Show |
6 | HG02055.hp1 HG02486.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.25+9625_25+9626dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(4): Show |
24 | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 others(21): Show |
24 | HG00639.hp2 HG01081.hp2 HG01099.hp2 others(21): Show |
intron_variant | MODIFIER | c.25+9616_25+9626dup others(11): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(5): Show |
31 | a0001c0001t0001g0019 a0001c0001t0001g0101 a0001c0001t0001g0267 others(28): Show |
31 | HG00099.hp2 HG00280.hp1 HG00738.hp1 others(28): Show |
intron_variant | MODIFIER | c.25+9615_25+9626dup others(12): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(6): Show |
30 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0088 others(27): Show |
30 | HG00597.hp2 HG00673.hp1 HG00738.hp2 others(27): Show |
intron_variant | MODIFIER | c.25+9614_25+9626dup others(13): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(7): Show |
9 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(6): Show |
9 | HG00621.hp2 HG02040.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+9613_25+9626dup others(14): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(8): Show |
8 | a0001c0001t0001g0006 a0001c0001t0001g0110 a0001c0001t0001g0268 others(5): Show |
8 | HG01891.hp1 HG02717.hp2 HG03453.hp2 others(5): Show |
intron_variant | MODIFIER | c.25+9612_25+9626dup others(15): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(9): Show |
7 | a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0093 others(4): Show |
7 | HG00099.hp1 HG01192.hp1 HG01192.hp2 others(4): Show |
intron_variant | MODIFIER | c.25+9611_25+9626dup others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(10): Show |
5 | a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0106 others(2): Show |
5 | HG00423.hp1 HG01106.hp1 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.25+9610_25+9626dup others(17): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(11): Show |
2 | a0001c0001t0001g0105 a0001c0001t0003g0013 |
2 | HG04115.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.25+9609_25+9626dup others(18): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(12): Show |
1 | a0001c0001t0001g0090 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.25+9608_25+9626dup others(19): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | T | TAAAAAAA others(14): Show |
1 | a0001c0001t0001g0104 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.25+9606_25+9626dup others(21): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | TA | T | 60 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 others(57): Show |
60 | HG00423.hp2 HG00621.hp1 HG00735.hp2 others(57): Show |
intron_variant | MODIFIER | c.25+9626delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | TAA | T | 24 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(21): Show |
24 | HG00140.hp1 HG00609.hp1 HG00673.hp2 others(21): Show |
intron_variant | MODIFIER | c.25+9625_25+9626del others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | TAAAAAAA others(3): Show |
T | 2 | a0001c0001t0003g0080 a0001c0001t0003g0081 |
2 | NA19090.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.25+9617_25+9626del others(10): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980040 | TAAAAAAA others(12): Show |
T | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.25+9608_25+9626del others(19): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980040 | ||||||
| chr1:244980080 | G | A | 1 | a0001c0001t0003g0067 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.25+9637G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980080 | |||||||
| chr1:244980116 | G | A | 1 | a0001c0001t0001g0283 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.25+9673G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980116 | |||||||
| chr1:244980135 | C | T | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.25+9692C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980135 | |||||||
| chr1:244980176 | G | A | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.25+9733G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980176 | |||||||
| chr1:244980218 | C | CA | 84 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0105 others(81): Show |
84 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(81): Show |
intron_variant | MODIFIER | c.25+9793dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980218 | ||||||
| chr1:244980218 | C | CAAAAAAA others(3): Show |
1 | a0001c0001t0001g0284 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.25+9784_25+9793dup others(10): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980218 | ||||||
| chr1:244980218 | C | CAAAAAAA others(42): Show |
1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+9793_25+9794ins others(49): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244980218 | ||||||
| chr1:244980335 | C | G | 257 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(254): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.25+9892C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980335 | |||||||
| chr1:244980337 | G | A | 2 | a0001c0002t0002g0098 a0001c0002t0002g0100 |
2 | HG00738.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.25+9894G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980337 | |||||||
| chr1:244980414 | T | C | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+9971T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980414 | |||||||
| chr1:244980438 | G | A | 211 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(208): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.25+9995G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980438 | |||||||
| chr1:244980477 | G | C | 1 | a0001c0002t0002g0233 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.25+10034G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980477 | |||||||
| chr1:244980567 | T | C | 1 | a0001c0001t0003g0007 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.25+10124T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980567 | |||||||
| chr1:244980607 | T | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+10164T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980607 | |||||||
| chr1:244980638 | T | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+10195T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980638 | |||||||
| chr1:244980650 | G | T | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+10207G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980650 | |||||||
| chr1:244980801 | A | G | 1 | a0001c0001t0003g0050 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.25+10358A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980801 | |||||||
| chr1:244980975 | C | G | 210 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(207): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
intron_variant | MODIFIER | c.25+10532C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244980975 | |||||||
| chr1:244981205 | CA | C | 7 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(4): Show |
7 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.25+10771delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244981205 | ||||||
| chr1:244981410 | A | G | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+10967A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244981410 | |||||||
| chr1:244981501 | A | G | 1 | a0001c0001t0001g0287 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.25+11058A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244981501 | |||||||
| chr1:244981532 | A | G | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+11089A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244981532 | |||||||
| chr1:244981592 | T | G | 2 | a0001c0001t0001g0204 a0001c0001t0001g0205 |
2 | HG01081.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.25+11149T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244981592 | |||||||
| chr1:244981667 | T | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+11224T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244981667 | |||||||
| chr1:244981669 | G | A | 1 | a0001c0001t0001g0242 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.25+11226G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244981669 | |||||||
| chr1:244981731 | C | T | 1 | a0001c0002t0002g0099 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.25+11288C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244981731 | |||||||
| chr1:244981829 | C | T | 1 | a0001c0001t0001g0194 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.25+11386C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244981829 | |||||||
| chr1:244982170 | C | T | 6 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(3): Show |
6 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.25+11727C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244982170 | |||||||
| chr1:244982177 | T | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+11734T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244982177 | |||||||
| chr1:244982367 | A | T | 3 | a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0060 |
3 | HG00738.hp1 HG01099.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.25+11924A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244982367 | |||||||
| chr1:244982688 | G | GA | 3 | a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0198 |
3 | HG02145.hp2 HG02897.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.25+12251dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244982688 | ||||||
| chr1:244982764 | G | A | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.25+12321G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244982764 | |||||||
| chr1:244982785 | T | C | 2 | a0001c0001t0005g0136 a0001c0001t0005g0190 |
2 | HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.25+12342T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244982785 | |||||||
| chr1:244982806 | C | T | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+12363C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244982806 | |||||||
| chr1:244982912 | T | C | 1 | a0001c0001t0003g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.25+12469T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244982912 | |||||||
| chr1:244982938 | T | C | 1 | a0001c0001t0001g0162 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.25+12495T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244982938 | |||||||
| chr1:244983014 | G | A | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+12571G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983014 | |||||||
| chr1:244983022 | A | G | 9 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+12579A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983022 | |||||||
| chr1:244983141 | G | A | 1 | a0001c0001t0005g0191 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.25+12698G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983141 | |||||||
| chr1:244983347 | A | G | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+12904A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983347 | |||||||
| chr1:244983382 | G | C | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.25+12939G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983382 | |||||||
| chr1:244983608 | C | T | 1 | a0001c0001t0001g0110 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.25+13165C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983608 | |||||||
| chr1:244983641 | G | A | 20 | a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0161 others(17): Show |
20 | HG01109.hp2 HG01433.hp1 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.25+13198G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983641 | |||||||
| chr1:244983689 | A | G | 9 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+13246A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983689 | |||||||
| chr1:244983708 | C | T | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0143 |
3 | NA18522.hp1 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.25+13265C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983708 | |||||||
| chr1:244983739 | C | CA | 10 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(7): Show |
10 | HG01106.hp2 HG01496.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.25+13316dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244983739 | ||||||
| chr1:244983739 | C | CAA | 139 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0019 others(136): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+13315_25+13316d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244983739 | ||||||
| chr1:244983739 | C | CAAA | 70 | a0001c0001t0001g0018 a0001c0001t0001g0126 a0001c0001t0001g0201 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+13314_25+13316d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244983739 | ||||||
| chr1:244983857 | A | G | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.25+13414A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983857 | |||||||
| chr1:244983940 | A | T | 1 | a0001c0001t0001g0164 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.25+13497A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983940 | |||||||
| chr1:244983987 | C | G | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.25+13544C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983987 | |||||||
| chr1:244983989 | C | T | 1 | a0001c0002t0002g0167 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.25+13546C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244983989 | |||||||
| chr1:244984034 | A | T | 117 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(114): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.25+13591A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984034 | |||||||
| chr1:244984090 | G | T | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+13647G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984090 | |||||||
| chr1:244984100 | G | C | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.25+13657G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984100 | |||||||
| chr1:244984108 | C | T | 1 | a0001c0002t0002g0256 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.25+13665C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984108 | |||||||
| chr1:244984128 | T | G | 1 | a0001c0001t0003g0051 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.25+13685T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984128 | |||||||
| chr1:244984130 | G | T | 8 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.25+13687G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984130 | |||||||
| chr1:244984135 | G | T | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.25+13692G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984135 | |||||||
| chr1:244984154 | T | A | 2 | a0001c0001t0005g0136 a0001c0001t0005g0190 |
2 | HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.25+13711T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984154 | |||||||
| chr1:244984186 | G | A | 1 | a0001c0001t0005g0191 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.25+13743G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984186 | |||||||
| chr1:244984213 | G | C | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.25+13770G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984213 | |||||||
| chr1:244984312 | A | G | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.25+13869A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984312 | |||||||
| chr1:244984351 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.25+13908C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984351 | |||||||
| chr1:244984371 | T | C | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.25+13928T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984371 | |||||||
| chr1:244984494 | C | A | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+14051C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984494 | |||||||
| chr1:244984599 | T | C | 225 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(222): Show |
225 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show |
intron_variant | MODIFIER | c.25+14156T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984599 | |||||||
| chr1:244984810 | G | C | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.25+14367G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984810 | |||||||
| chr1:244984848 | T | C | 1 | a0001c0002t0002g0117 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.25+14405T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984848 | |||||||
| chr1:244984850 | C | CA | 15 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(12): Show |
15 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(12): Show |
intron_variant | MODIFIER | c.25+14422dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244984850 | ||||||
| chr1:244984850 | C | CAA | 115 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(112): Show |
115 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
intron_variant | MODIFIER | c.25+14421_25+14422d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244984850 | ||||||
| chr1:244984850 | C | CAAA | 9 | a0001c0001t0001g0087 a0001c0001t0001g0267 a0001c0001t0001g0268 others(6): Show |
9 | HG00423.hp1 HG01256.hp1 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.25+14420_25+14422d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244984850 | ||||||
| chr1:244984850 | C | T | 1 | a0001c0002t0002g0117 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.25+14407C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984850 | |||||||
| chr1:244984850 | CA | C | 67 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(64): Show |
67 | HG00423.hp2 HG00597.hp1 HG00609.hp1 others(64): Show |
intron_variant | MODIFIER | c.25+14422delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244984850 | ||||||
| chr1:244984851 | A | C | 1 | a0001c0002t0002g0117 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.25+14408A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984851 | |||||||
| chr1:244984882 | A | G | 6 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(3): Show |
6 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.25+14439A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244984882 | |||||||
| chr1:244985026 | G | C | 1 | a0001c0001t0001g0138 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.25+14583G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985026 | |||||||
| chr1:244985052 | A | G | 6 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0003g0020 others(3): Show |
6 | HG00673.hp1 HG02132.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.25+14609A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985052 | |||||||
| chr1:244985076 | G | GTTT | 58 | a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 others(55): Show |
58 | HG00140.hp1 HG00423.hp2 HG00609.hp1 others(55): Show |
intron_variant | MODIFIER | c.25+14653_25+14655d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244985076 | ||||||
| chr1:244985076 | G | GTTTT | 20 | a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 others(17): Show |
20 | HG00597.hp1 HG00621.hp1 HG00673.hp2 others(17): Show |
intron_variant | MODIFIER | c.25+14652_25+14655d others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244985076 | ||||||
| chr1:244985076 | GTTTTTT | G | 121 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(118): Show |
121 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(118): Show |
intron_variant | MODIFIER | c.25+14650_25+14655d others(8): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244985076 | ||||||
| chr1:244985080 | T | TG | 18 | a0001c0001t0001g0138 a0001c0001t0001g0161 a0001c0001t0001g0162 others(15): Show |
18 | HG01109.hp2 HG01433.hp1 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.25+14637_25+14638i others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985080 | |||||||
| chr1:244985097 | T | C | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.25+14654T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985097 | |||||||
| chr1:244985137 | A | G | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.25+14694A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985137 | |||||||
| chr1:244985229 | A | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+14786A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985229 | |||||||
| chr1:244985316 | T | G | 1 | a0001c0002t0004g0054 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.25+14873T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985316 | |||||||
| chr1:244985401 | A | G | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.25+14958A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985401 | |||||||
| chr1:244985432 | C | T | 131 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(128): Show |
131 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
intron_variant | MODIFIER | c.25+14989C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985432 | |||||||
| chr1:244985818 | C | T | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.25+15375C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985818 | |||||||
| chr1:244985863 | C | CA | 28 | a0001c0001t0001g0138 a0001c0001t0001g0201 a0001c0001t0001g0202 others(25): Show |
28 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(25): Show |
intron_variant | MODIFIER | c.25+15434dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244985863 | ||||||
| chr1:244985863 | CA | C | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+15434delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244985863 | ||||||
| chr1:244985880 | C | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+15437C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244985880 | |||||||
| chr1:244986075 | C | A | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+15632C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986075 | |||||||
| chr1:244986174 | T | C | 211 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(208): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.25+15731T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986174 | |||||||
| chr1:244986214 | C | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+15771C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986214 | |||||||
| chr1:244986255 | T | A | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.25+15812T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986255 | |||||||
| chr1:244986302 | C | G | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.25+15859C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986302 | |||||||
| chr1:244986344 | A | G | 3 | a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 |
3 | HG02258.hp1 HG02723.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.25+15901A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986344 | |||||||
| chr1:244986369 | T | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+15926T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986369 | |||||||
| chr1:244986582 | C | G | 5 | a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0257 others(2): Show |
5 | HG00423.hp2 HG02132.hp2 NA18941.hp2 others(2): Show |
intron_variant | MODIFIER | c.25+16139C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986582 | |||||||
| chr1:244986744 | C | CA | 77 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(74): Show |
77 | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(74): Show |
intron_variant | MODIFIER | c.25+16319dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244986744 | ||||||
| chr1:244986751 | A | C | 1 | a0001c0001t0001g0186 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.25+16308A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986751 | |||||||
| chr1:244986898 | G | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+16455G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986898 | |||||||
| chr1:244986980 | G | A | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+16537G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244986980 | |||||||
| chr1:244987021 | C | T | 3 | a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0065 |
3 | HG01081.hp2 HG01496.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.25+16578C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244987021 | |||||||
| chr1:244987122 | A | G | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+16679A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244987122 | |||||||
| chr1:244987162 | G | A | 9 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+16719G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244987162 | |||||||
| chr1:244987239 | C | A | 20 | a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0161 others(17): Show |
20 | HG01109.hp2 HG01433.hp1 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.25+16796C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244987239 | |||||||
| chr1:244987293 | C | T | 1 | a0001c0001t0001g0264 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.25+16850C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244987293 | |||||||
| chr1:244987347 | T | A | 1 | a0001c0001t0001g0004 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.25+16904T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244987347 | |||||||
| chr1:244987520 | G | A | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.25+17077G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244987520 | |||||||
| chr1:244987627 | G | T | 7 | a0001c0001t0001g0004 a0001c0001t0001g0267 a0001c0001t0001g0268 others(4): Show |
7 | HG01891.hp1 HG02572.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.25+17184G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244987627 | |||||||
| chr1:244987641 | A | AT | 119 | a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 others(116): Show |
120 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(117): Show |
intron_variant | MODIFIER | c.25+17211dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244987641 | ||||||
| chr1:244987641 | A | ATT | 139 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(136): Show |
intron_variant | MODIFIER | c.25+17210_25+17211d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244987641 | ||||||
| chr1:244987791 | A | G | 1 | a0001c0002t0002g0155 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.25+17348A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244987791 | |||||||
| chr1:244988030 | G | C | 2 | a0001c0001t0001g0234 a0001c0001t0001g0241 |
2 | HG03831.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.25+17587G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244988030 | |||||||
| chr1:244988078 | T | G | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.25+17635T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244988078 | |||||||
| chr1:244988154 | G | A | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.25+17711G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244988154 | |||||||
| chr1:244988265 | C | T | 28 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0053 others(25): Show |
28 | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(25): Show |
intron_variant | MODIFIER | c.25+17822C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244988265 | |||||||
| chr1:244988520 | C | T | 10 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(7): Show |
10 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(7): Show |
intron_variant | MODIFIER | c.25+18077C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244988520 | |||||||
| chr1:244988680 | T | C | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+18237T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244988680 | |||||||
| chr1:244988810 | A | C | 3 | a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 |
3 | HG02895.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.25+18367A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244988810 | |||||||
| chr1:244988852 | T | C | 1 | a0001c0001t0001g0175 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.25+18409T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244988852 | |||||||
| chr1:244988942 | C | T | 210 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(207): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
intron_variant | MODIFIER | c.25+18499C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244988942 | |||||||
| chr1:244989059 | A | G | 1 | a0001c0001t0001g0283 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.25+18616A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244989059 | |||||||
| chr1:244989146 | C | T | 9 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+18703C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244989146 | |||||||
| chr1:244989289 | A | G | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.25+18846A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244989289 | |||||||
| chr1:244989662 | C | T | 1 | a0001c0002t0002g0227 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.25+19219C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244989662 | |||||||
| chr1:244989722 | T | C | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.25+19279T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244989722 | |||||||
| chr1:244989765 | C | A | 3 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 |
3 | HG00642.hp1 HG01099.hp1 HG01167.hp1 |
intron_variant | MODIFIER | c.25+19322C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244989765 | |||||||
| chr1:244989767 | T | A | 3 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 |
3 | HG00642.hp1 HG01099.hp1 HG01167.hp1 |
intron_variant | MODIFIER | c.25+19324T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244989767 | |||||||
| chr1:244989905 | CCATT | C | 9 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.25+19467_25+19470d others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244989905 | ||||||
| chr1:244989981 | G | A | 1 | a0001c0001t0001g0138 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.25+19538G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244989981 | |||||||
| chr1:244990085 | C | T | 1 | a0001c0001t0001g0110 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.25+19642C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990085 | |||||||
| chr1:244990099 | G | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+19656G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990099 | |||||||
| chr1:244990184 | A | G | 1 | a0001c0001t0001g0242 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.25+19741A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990184 | |||||||
| chr1:244990395 | G | A | 2 | a0001c0002t0002g0244 a0001c0002t0002g0245 |
2 | NA18944.hp1 NA18960.hp2 |
intron_variant | MODIFIER | c.25+19952G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990395 | |||||||
| chr1:244990428 | T | A | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+19985T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990428 | |||||||
| chr1:244990531 | G | A | 8 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(5): Show |
8 | HG02486.hp1 HG02615.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.25+20088G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990531 | |||||||
| chr1:244990569 | A | G | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.25+20126A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990569 | |||||||
| chr1:244990609 | C | T | 1 | a0001c0001t0003g0007 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.25+20166C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990609 | |||||||
| chr1:244990814 | G | GT | 6 | a0001c0001t0001g0143 a0001c0001t0001g0277 a0001c0001t0003g0037 others(3): Show |
6 | HG00738.hp2 HG01261.hp2 HG02135.hp2 others(3): Show |
intron_variant | MODIFIER | c.25+20382dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244990814 | ||||||
| chr1:244990829 | C | G | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+20386C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990829 | |||||||
| chr1:244990923 | T | A | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+20480T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244990923 | |||||||
| chr1:244991029 | A | G | 258 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(255): Show |
259 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
intron_variant | MODIFIER | c.25+20586A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991029 | |||||||
| chr1:244991150 | T | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.25+20707T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991150 | |||||||
| chr1:244991154 | A | G | 11 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(8): Show |
12 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.25+20711A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991154 | |||||||
| chr1:244991156 | A | G | 10 | a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0128 others(7): Show |
10 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(7): Show |
intron_variant | MODIFIER | c.25+20713A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991156 | |||||||
| chr1:244991179 | A | G | 1 | a0001c0001t0001g0126 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.25+20736A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991179 | |||||||
| chr1:244991197 | A | G | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.25+20754A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991197 | |||||||
| chr1:244991253 | C | T | 1 | a0001c0001t0001g0106 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.25+20810C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991253 | |||||||
| chr1:244991259 | G | A | 1 | a0001c0001t0003g0064 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.25+20816G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991259 | |||||||
| chr1:244991291 | G | C | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+20848G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991291 | |||||||
| chr1:244991378 | T | C | 6 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(3): Show |
6 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.25+20935T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991378 | |||||||
| chr1:244991422 | C | T | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.25+20979C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991422 | |||||||
| chr1:244991447 | C | T | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.25+21004C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991447 | |||||||
| chr1:244991544 | T | G | 3 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 |
3 | HG02970.hp2 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.25+21101T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991544 | |||||||
| chr1:244991611 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.25+21168C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991611 | |||||||
| chr1:244991756 | A | G | 1 | a0001c0001t0005g0190 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.25+21313A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991756 | |||||||
| chr1:244991842 | C | T | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.25+21399C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991842 | |||||||
| chr1:244991913 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.25+21470G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244991913 | |||||||
| chr1:244992009 | C | T | 1 | a0001c0002t0002g0254 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.25+21566C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992009 | |||||||
| chr1:244992203 | C | G | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.25+21760C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992203 | |||||||
| chr1:244992225 | T | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.25+21782T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992225 | |||||||
| chr1:244992245 | G | A | 1 | a0001c0002t0002g0098 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.25+21802G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992245 | |||||||
| chr1:244992382 | G | A | 1 | a0001c0002t0004g0112 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.25+21939G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992382 | |||||||
| chr1:244992564 | CCCTGTCT others(17): Show |
C | 1 | a0001c0001t0001g0266 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.25+22122_25+22145d others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992564 | |||||||
| chr1:244992688 | C | T | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+22245C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992688 | |||||||
| chr1:244992707 | C | T | 7 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(4): Show |
8 | HG02055.hp2 HG02145.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.25+22264C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992707 | |||||||
| chr1:244992762 | A | C | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.25+22319A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992762 | |||||||
| chr1:244992988 | G | A | 3 | a0001c0001t0005g0136 a0001c0001t0005g0190 a0001c0001t0005g0191 |
3 | HG02257.hp1 HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.25+22545G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244992988 | |||||||
| chr1:244993050 | A | G | 8 | a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 others(5): Show |
8 | HG02895.hp1 HG03098.hp2 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.25+22607A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244993050 | |||||||
| chr1:244993155 | G | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.25+22712G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244993155 | |||||||
| chr1:244993209 | G | A | 222 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(219): Show |
222 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
intron_variant | MODIFIER | c.25+22766G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244993209 | |||||||
| chr1:244993771 | T | C | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.25+23328T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244993771 | |||||||
| chr1:244993805 | A | G | 20 | a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0161 others(17): Show |
20 | HG01109.hp2 HG01433.hp1 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.25+23362A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244993805 | |||||||
| chr1:244993944 | AT | A | 115 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(112): Show |
116 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.26-23288delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244993944 | ||||||
| chr1:244994140 | C | T | 1 | a0001c0001t0003g0056 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.26-23102C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994140 | |||||||
| chr1:244994159 | A | G | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.26-23083A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994159 | |||||||
| chr1:244994239 | T | C | 8 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(5): Show |
8 | HG02486.hp1 HG02615.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.26-23003T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994239 | |||||||
| chr1:244994374 | A | G | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.26-22868A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994374 | |||||||
| chr1:244994498 | C | T | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.26-22744C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994498 | |||||||
| chr1:244994499 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.26-22743G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994499 | |||||||
| chr1:244994503 | C | T | 2 | a0001c0002t0004g0046 a0001c0002t0004g0047 |
2 | HG01081.hp2 HG01496.hp1 |
intron_variant | MODIFIER | c.26-22739C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994503 | |||||||
| chr1:244994580 | C | T | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.26-22662C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994580 | |||||||
| chr1:244994649 | C | G | 1 | a0001c0002t0002g0173 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.26-22593C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994649 | |||||||
| chr1:244994666 | G | T | 1 | a0001c0002t0002g0173 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.26-22576G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994666 | |||||||
| chr1:244994673 | C | T | 9 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.26-22569C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994673 | |||||||
| chr1:244994720 | G | A | 1 | a0001c0001t0003g0076 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.26-22522G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994720 | |||||||
| chr1:244994772 | G | A | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.26-22470G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994772 | |||||||
| chr1:244994890 | T | C | 1 | a0001c0001t0003g0039 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.26-22352T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994890 | |||||||
| chr1:244994908 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.26-22334C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994908 | |||||||
| chr1:244994940 | T | C | 266 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(263): Show |
267 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
intron_variant | MODIFIER | c.26-22302T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244994940 | |||||||
| chr1:244995089 | G | A | 1 | a0001c0002t0002g0221 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.26-22153G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995089 | |||||||
| chr1:244995091 | G | A | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0143 |
3 | NA18522.hp1 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.26-22151G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995091 | |||||||
| chr1:244995120 | T | C | 2 | a0001c0001t0003g0040 a0001c0001t0003g0041 |
2 | NA18986.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.26-22122T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995120 | |||||||
| chr1:244995134 | G | A | 3 | a0001c0001t0001g0277 a0001c0002t0002g0275 a0001c0002t0002g0276 |
3 | HG01433.hp1 HG02630.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.26-22108G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995134 | |||||||
| chr1:244995190 | G | A | 1 | a0001c0001t0001g0126 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.26-22052G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995190 | |||||||
| chr1:244995221 | C | T | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.26-22021C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995221 | |||||||
| chr1:244995309 | C | T | 70 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.26-21933C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995309 | |||||||
| chr1:244995353 | C | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.26-21889C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995353 | |||||||
| chr1:244995361 | C | CA | 7 | a0001c0001t0001g0131 a0001c0001t0001g0282 a0001c0001t0001g0283 others(4): Show |
7 | HG02683.hp2 HG02895.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.26-21869dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244995361 | ||||||
| chr1:244995398 | C | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.26-21844C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995398 | |||||||
| chr1:244995462 | G | T | 42 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(39): Show |
43 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(40): Show |
intron_variant | MODIFIER | c.26-21780G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995462 | |||||||
| chr1:244995504 | A | G | 270 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(267): Show |
271 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show |
intron_variant | MODIFIER | c.26-21738A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995504 | |||||||
| chr1:244995744 | T | G | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.26-21498T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995744 | |||||||
| chr1:244995773 | A | G | 18 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(15): Show |
18 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.26-21469A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995773 | |||||||
| chr1:244995840 | A | G | 3 | a0001c0001t0001g0119 a0001c0001t0001g0282 a0001c0001t0001g0284 |
3 | HG01496.hp2 HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.26-21402A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995840 | |||||||
| chr1:244995860 | C | G | 1 | a0001c0001t0003g0037 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.26-21382C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995860 | |||||||
| chr1:244995956 | C | T | 1 | a0001c0001t0003g0036 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.26-21286C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244995956 | |||||||
| chr1:244996015 | C | T | 1 | a0001c0001t0003g0024 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.26-21227C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996015 | |||||||
| chr1:244996052 | T | G | 4 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(1): Show |
4 | HG01261.hp1 HG02258.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.26-21190T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996052 | |||||||
| chr1:244996070 | T | G | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.26-21172T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996070 | |||||||
| chr1:244996086 | G | C | 70 | a0001c0001t0001g0103 a0001c0001t0001g0201 a0001c0001t0001g0202 others(67): Show |
70 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.26-21156G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996086 | |||||||
| chr1:244996265 | C | T | 137 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(134): Show |
137 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
intron_variant | MODIFIER | c.26-20977C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996265 | |||||||
| chr1:244996437 | A | G | 155 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(152): Show |
155 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(152): Show |
intron_variant | MODIFIER | c.26-20805A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996437 | |||||||
| chr1:244996520 | T | A | 162 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(159): Show |
162 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.26-20722T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996520 | |||||||
| chr1:244996675 | A | G | 1 | a0001c0002t0002g0171 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.26-20567A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996675 | |||||||
| chr1:244996680 | C | T | 117 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(114): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.26-20562C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996680 | |||||||
| chr1:244996744 | T | A | 1 | a0001c0001t0003g0069 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.26-20498T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996744 | |||||||
| chr1:244996789 | A | G | 156 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.26-20453A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996789 | |||||||
| chr1:244996828 | T | A | 2 | a0001c0001t0002g0192 a0001c0001t0002g0195 |
2 | HG02055.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.26-20414T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244996828 | |||||||
| chr1:244997127 | A | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.26-20115A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997127 | |||||||
| chr1:244997217 | C | T | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.26-20025C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997217 | |||||||
| chr1:244997285 | G | A | 100 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(97): Show |
101 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.26-19957G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997285 | |||||||
| chr1:244997310 | CTT | C | 143 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(140): Show |
143 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(140): Show |
intron_variant | MODIFIER | c.26-19928_26-19927d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244997310 | ||||||
| chr1:244997339 | T | C | 8 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.26-19903T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997339 | |||||||
| chr1:244997467 | A | G | 2 | a0001c0001t0001g0088 a0001c0001t0001g0089 |
2 | HG01261.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.26-19775A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997467 | |||||||
| chr1:244997491 | G | A | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-19751G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997491 | |||||||
| chr1:244997525 | C | CT | 89 | a0001c0001t0001g0018 a0001c0001t0001g0120 a0001c0001t0001g0121 others(86): Show |
90 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(87): Show |
intron_variant | MODIFIER | c.26-19700dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244997525 | ||||||
| chr1:244997525 | C | CTT | 11 | a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0209 others(8): Show |
11 | HG00609.hp1 HG02523.hp1 HG02523.hp2 others(8): Show |
intron_variant | MODIFIER | c.26-19701_26-19700d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244997525 | ||||||
| chr1:244997624 | A | G | 2 | a0001c0001t0001g0122 a0001c0001t0001g0125 |
2 | HG02258.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.26-19618A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997624 | |||||||
| chr1:244997688 | C | T | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.26-19554C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997688 | |||||||
| chr1:244997698 | G | A | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.26-19544G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997698 | |||||||
| chr1:244997820 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.26-19422C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997820 | |||||||
| chr1:244997919 | C | T | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.26-19323C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997919 | |||||||
| chr1:244997970 | C | CAAA | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-19272_26-19271i others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244997970 | |||||||
| chr1:244998094 | A | G | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.26-19148A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998094 | |||||||
| chr1:244998209 | A | C | 2 | a0001c0001t0003g0114 a0001c0001t0007g0243 |
2 | NA19003.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.26-19033A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998209 | |||||||
| chr1:244998271 | C | T | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.26-18971C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998271 | |||||||
| chr1:244998293 | C | T | 156 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.26-18949C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998293 | |||||||
| chr1:244998395 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.26-18847G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998395 | |||||||
| chr1:244998530 | G | A | 1 | a0001c0001t0003g0027 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.26-18712G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998530 | |||||||
| chr1:244998542 | T | C | 1 | a0001c0001t0005g0191 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.26-18700T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998542 | |||||||
| chr1:244998738 | C | T | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.26-18504C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998738 | |||||||
| chr1:244998766 | T | C | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-18476T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998766 | |||||||
| chr1:244998782 | G | T | 1 | a0001c0002t0004g0112 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.26-18460G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998782 | |||||||
| chr1:244998863 | T | G | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.26-18379T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998863 | |||||||
| chr1:244998866 | G | A | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0008g0288 others(1): Show |
4 | HG02135.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.26-18376G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998866 | |||||||
| chr1:244998964 | C | A | 7 | a0001c0001t0001g0004 a0001c0001t0001g0267 a0001c0001t0001g0268 others(4): Show |
7 | HG01891.hp1 HG02572.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.26-18278C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244998964 | |||||||
| chr1:244999058 | C | CA | 10 | a0001c0001t0001g0143 a0001c0001t0001g0210 a0001c0001t0005g0190 others(7): Show |
10 | HG01515.hp2 HG02257.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.26-18160dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244999058 | ||||||
| chr1:244999058 | C | CAA | 82 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(79): Show |
82 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(79): Show |
intron_variant | MODIFIER | c.26-18161_26-18160d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244999058 | ||||||
| chr1:244999058 | C | CAAA | 9 | a0001c0001t0001g0177 a0001c0001t0001g0203 a0001c0001t0001g0208 others(6): Show |
9 | HG00673.hp2 HG02040.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.26-18162_26-18160d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244999058 | ||||||
| chr1:244999058 | CAA | C | 9 | a0001c0001t0001g0006 a0001c0001t0001g0103 a0001c0001t0001g0108 others(6): Show |
9 | HG01081.hp2 HG01891.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.26-18161_26-18160d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244999058 | ||||||
| chr1:244999058 | CAAA | C | 111 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(108): Show |
111 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(108): Show |
intron_variant | MODIFIER | c.26-18162_26-18160d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244999058 | ||||||
| chr1:244999058 | CAAAA | C | 31 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0122 others(28): Show |
31 | HG01167.hp2 HG01256.hp1 HG01433.hp1 others(28): Show |
intron_variant | MODIFIER | c.26-18163_26-18160d others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244999058 | ||||||
| chr1:244999272 | T | C | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.26-17970T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244999272 | |||||||
| chr1:244999307 | G | A | 1 | a0001c0001t0001g0132 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.26-17935G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244999307 | |||||||
| chr1:244999383 | T | C | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-17859T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244999383 | |||||||
| chr1:244999447 | A | G | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0008g0288 others(1): Show |
4 | HG02135.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.26-17795A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244999447 | |||||||
| chr1:244999797 | A | AGTTTTTT others(1): Show |
12 | a0001c0001t0001g0144 a0001c0002t0002g0137 a0001c0002t0002g0139 others(9): Show |
12 | HG00735.hp2 HG00741.hp1 HG01981.hp1 others(9): Show |
intron_variant | MODIFIER | c.26-17431_26-17424d others(10): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 244999797 | ||||||
| chr1:244999858 | C | A | 1 | a0001c0002t0004g0065 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.26-17384C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244999858 | |||||||
| chr1:244999947 | T | C | 1 | a0001c0001t0003g0058 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.26-17295T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 244999947 | |||||||
| chr1:245000081 | G | A | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-17161G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245000081 | |||||||
| chr1:245000114 | C | A | 156 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.26-17128C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245000114 | |||||||
| chr1:245000278 | A | G | 1 | a0001c0001t0001g0138 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.26-16964A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245000278 | |||||||
| chr1:245000389 | G | T | 1 | a0001c0001t0001g0280 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.26-16853G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245000389 | |||||||
| chr1:245000483 | T | G | 1 | a0001c0001t0001g0211 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.26-16759T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245000483 | |||||||
| chr1:245000780 | CA | C | 89 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(86): Show |
89 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.26-16447delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245000780 | ||||||
| chr1:245000780 | CAA | C | 143 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(140): Show |
143 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(140): Show |
intron_variant | MODIFIER | c.26-16448_26-16447d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245000780 | ||||||
| chr1:245000782 | A | G | 1 | a0001c0001t0003g0005 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.26-16460A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245000782 | |||||||
| chr1:245000838 | T | C | 1 | a0001c0001t0003g0022 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.26-16404T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245000838 | |||||||
| chr1:245001053 | A | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.26-16189A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245001053 | |||||||
| chr1:245001183 | A | G | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0008g0288 others(1): Show |
4 | HG02135.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.26-16059A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245001183 | |||||||
| chr1:245001184 | G | A | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-16058G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245001184 | |||||||
| chr1:245001221 | A | T | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.26-16021A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245001221 | |||||||
| chr1:245001437 | A | G | 156 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.26-15805A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245001437 | |||||||
| chr1:245001478 | A | G | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.26-15764A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245001478 | |||||||
| chr1:245001635 | G | A | 1 | a0001c0001t0003g0057 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.26-15607G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245001635 | |||||||
| chr1:245001952 | A | G | 8 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.26-15290A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245001952 | |||||||
| chr1:245002017 | T | C | 1 | a0001c0001t0001g0125 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.26-15225T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245002017 | |||||||
| chr1:245002146 | T | C | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.26-15096T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245002146 | |||||||
| chr1:245002154 | C | T | 2 | a0001c0002t0002g0098 a0001c0002t0002g0100 |
2 | HG00738.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.26-15088C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245002154 | |||||||
| chr1:245002273 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.26-14969C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245002273 | |||||||
| chr1:245002456 | G | A | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.26-14786G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245002456 | |||||||
| chr1:245002675 | C | G | 1 | a0001c0001t0001g0018 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.26-14567C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245002675 | |||||||
| chr1:245002693 | G | A | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-14549G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245002693 | |||||||
| chr1:245002693 | G | T | 1 | a0001c0001t0001g0160 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.26-14549G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245002693 | |||||||
| chr1:245002753 | AT | A | 147 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(144): Show |
147 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(144): Show |
intron_variant | MODIFIER | c.26-14474delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245002753 | ||||||
| chr1:245002769 | A | G | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.26-14473A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245002769 | |||||||
| chr1:245002796 | GA | G | 9 | a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0152 others(6): Show |
9 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(6): Show |
intron_variant | MODIFIER | c.26-14437delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245002796 | ||||||
| chr1:245003169 | G | T | 1 | a0001c0002t0002g0117 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.26-14073G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245003169 | |||||||
| chr1:245003252 | G | A | 20 | a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0161 others(17): Show |
20 | HG01433.hp1 HG02055.hp1 HG02486.hp1 others(17): Show |
intron_variant | MODIFIER | c.26-13990G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245003252 | |||||||
| chr1:245003260 | GTATC | G | 9 | a0001c0001t0003g0034 a0001c0001t0003g0062 a0001c0002t0004g0033 others(6): Show |
9 | HG01081.hp2 HG01496.hp1 HG02015.hp2 others(6): Show |
intron_variant | MODIFIER | c.26-13980_26-13977d others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245003260 | ||||||
| chr1:245003401 | G | T | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.26-13841G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245003401 | |||||||
| chr1:245003993 | A | T | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-13249A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245003993 | |||||||
| chr1:245004008 | C | CCATTGGT others(2): Show |
256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-13233_26-13232i others(11): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245004008 | ||||||
| chr1:245004029 | A | T | 156 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.26-13213A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245004029 | |||||||
| chr1:245004207 | A | G | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-13035A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245004207 | |||||||
| chr1:245004423 | CT | C | 160 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(157): Show |
160 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.26-12804delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245004423 | ||||||
| chr1:245004443 | G | A | 257 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(254): Show |
258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.26-12799G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245004443 | |||||||
| chr1:245004534 | C | A | 144 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(141): Show |
144 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.26-12708C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245004534 | |||||||
| chr1:245004569 | G | T | 117 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(114): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.26-12673G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245004569 | |||||||
| chr1:245004683 | G | A | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.26-12559G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245004683 | |||||||
| chr1:245004736 | G | T | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-12506G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245004736 | |||||||
| chr1:245005144 | C | G | 1 | a0001c0001t0005g0190 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.26-12098C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245005144 | |||||||
| chr1:245005475 | T | G | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.26-11767T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245005475 | |||||||
| chr1:245005639 | C | T | 1 | a0001c0002t0002g0260 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.26-11603C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245005639 | |||||||
| chr1:245005640 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.26-11602G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245005640 | |||||||
| chr1:245005712 | T | C | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-11530T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245005712 | |||||||
| chr1:245005744 | T | C | 156 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.26-11498T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245005744 | |||||||
| chr1:245005810 | C | T | 1 | a0001c0001t0003g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.26-11432C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245005810 | |||||||
| chr1:245005866 | A | G | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0008g0288 others(1): Show |
4 | HG02135.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.26-11376A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245005866 | |||||||
| chr1:245006160 | C | T | 1 | a0001c0001t0001g0142 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.26-11082C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006160 | |||||||
| chr1:245006243 | A | G | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.26-10999A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006243 | |||||||
| chr1:245006277 | A | G | 8 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.26-10965A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006277 | |||||||
| chr1:245006304 | GTTTA | G | 255 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(252): Show |
256 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(253): Show |
intron_variant | MODIFIER | c.26-10918_26-10915d others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245006304 | ||||||
| chr1:245006375 | G | C | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-10867G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006375 | |||||||
| chr1:245006406 | T | C | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-10836T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006406 | |||||||
| chr1:245006450 | G | A | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-10792G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006450 | |||||||
| chr1:245006457 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.26-10785C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006457 | |||||||
| chr1:245006582 | G | A | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-10660G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006582 | |||||||
| chr1:245006606 | G | A | 1 | a0001c0001t0003g0079 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.26-10636G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006606 | |||||||
| chr1:245006615 | G | A | 1 | a0001c0001t0001g0108 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26-10627G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006615 | |||||||
| chr1:245006808 | C | A | 1 | a0001c0001t0001g0205 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.26-10434C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006808 | |||||||
| chr1:245006835 | A | G | 269 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(266): Show |
270 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
intron_variant | MODIFIER | c.26-10407A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006835 | |||||||
| chr1:245006929 | G | A | 28 | a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 others(25): Show |
29 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.26-10313G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006929 | |||||||
| chr1:245006952 | A | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.26-10290A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006952 | |||||||
| chr1:245006965 | CAACAA | C | 16 | a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0017 others(13): Show |
16 | HG00597.hp2 HG00621.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.26-10274_26-10270d others(7): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245006965 | ||||||
| chr1:245006968 | C | A | 1 | a0001c0001t0002g0192 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.26-10274C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006968 | |||||||
| chr1:245006970 | A | AC | 109 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(106): Show |
109 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show |
intron_variant | MODIFIER | c.26-10272_26-10271i others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006970 | |||||||
| chr1:245006971 | A | C | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0008g0288 others(1): Show |
4 | HG02135.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.26-10271A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006971 | |||||||
| chr1:245006975 | C | A | 1 | a0001c0001t0001g0205 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.26-10267C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245006975 | |||||||
| chr1:245007006 | A | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.26-10236A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007006 | |||||||
| chr1:245007168 | T | C | 1 | a0001c0001t0001g0205 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.26-10074T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007168 | |||||||
| chr1:245007169 | C | T | 1 | a0001c0001t0001g0205 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.26-10073C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007169 | |||||||
| chr1:245007193 | C | T | 54 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0189 others(51): Show |
54 | HG00639.hp2 HG00673.hp1 HG01109.hp1 others(51): Show |
intron_variant | MODIFIER | c.26-10049C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007193 | |||||||
| chr1:245007576 | A | G | 144 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(141): Show |
144 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.26-9666A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007576 | |||||||
| chr1:245007611 | C | T | 6 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(3): Show |
6 | HG01109.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.26-9631C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007611 | |||||||
| chr1:245007614 | T | G | 1 | a0001c0001t0001g0205 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.26-9628T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007614 | |||||||
| chr1:245007615 | G | T | 1 | a0001c0001t0001g0205 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.26-9627G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007615 | |||||||
| chr1:245007774 | A | AT | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.26-9467dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245007774 | ||||||
| chr1:245007776 | A | T | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.26-9466A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007776 | |||||||
| chr1:245007777 | G | A | 124 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show |
124 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(121): Show |
intron_variant | MODIFIER | c.26-9465G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007777 | |||||||
| chr1:245007827 | G | A | 144 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(141): Show |
144 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.26-9415G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007827 | |||||||
| chr1:245007838 | T | C | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.26-9404T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007838 | |||||||
| chr1:245007900 | C | G | 3 | a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0002t0002g0196 |
3 | HG02055.hp2 HG02717.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.26-9342C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245007900 | |||||||
| chr1:245008082 | G | A | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.26-9160G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008082 | |||||||
| chr1:245008086 | G | A | 1 | a0001c0001t0001g0205 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.26-9156G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008086 | |||||||
| chr1:245008113 | C | G | 1 | a0001c0001t0001g0242 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.26-9129C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008113 | |||||||
| chr1:245008152 | G | GGT | 109 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(106): Show |
110 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.26-9089_26-9088ins others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245008152 | ||||||
| chr1:245008221 | G | C | 8 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.26-9021G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008221 | |||||||
| chr1:245008312 | G | T | 109 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(106): Show |
110 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.26-8930G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008312 | |||||||
| chr1:245008314 | T | A | 8 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.26-8928T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008314 | |||||||
| chr1:245008449 | G | A | 1 | a0001c0002t0002g0256 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.26-8793G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008449 | |||||||
| chr1:245008584 | A | G | 8 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.26-8658A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008584 | |||||||
| chr1:245008662 | TTC | T | 100 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(97): Show |
101 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.26-8577_26-8576del others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245008662 | ||||||
| chr1:245008670 | C | CT | 159 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(156): Show |
159 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(156): Show |
intron_variant | MODIFIER | c.26-8554dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245008670 | ||||||
| chr1:245008670 | C | CTT | 75 | a0001c0001t0001g0122 a0001c0001t0001g0174 a0001c0001t0001g0175 others(72): Show |
75 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(72): Show |
intron_variant | MODIFIER | c.26-8555_26-8554dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245008670 | ||||||
| chr1:245008670 | C | CTTT | 8 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 others(5): Show |
8 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.26-8556_26-8554dup others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245008670 | ||||||
| chr1:245008689 | A | T | 1 | a0001c0001t0003g0013 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.26-8553A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008689 | |||||||
| chr1:245008722 | G | A | 117 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(114): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.26-8520G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008722 | |||||||
| chr1:245008764 | G | A | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-8478G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008764 | |||||||
| chr1:245008853 | T | G | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.26-8389T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245008853 | |||||||
| chr1:245009028 | C | CT | 122 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(119): Show |
122 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(119): Show |
intron_variant | MODIFIER | c.26-8189dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245009028 | ||||||
| chr1:245009028 | C | CTT | 24 | a0001c0001t0001g0096 a0001c0001t0001g0161 a0001c0001t0001g0186 others(21): Show |
24 | HG00597.hp2 HG01358.hp1 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.26-8190_26-8189dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245009028 | ||||||
| chr1:245009028 | C | CTTT | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 others(4): Show |
7 | HG01496.hp2 HG02258.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-8191_26-8189dup others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245009028 | ||||||
| chr1:245009028 | CTTT | C | 91 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(88): Show |
92 | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(89): Show |
intron_variant | MODIFIER | c.26-8191_26-8189del others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245009028 | ||||||
| chr1:245009028 | CTTTT | C | 7 | a0001c0001t0001g0133 a0001c0001t0001g0177 a0001c0001t0001g0194 others(4): Show |
7 | HG00280.hp2 HG02040.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-8192_26-8189del others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245009028 | ||||||
| chr1:245009209 | T | A | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0008g0288 others(1): Show |
4 | HG02135.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.26-8033T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009209 | |||||||
| chr1:245009348 | A | G | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.26-7894A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009348 | |||||||
| chr1:245009363 | G | C | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-7879G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009363 | |||||||
| chr1:245009420 | C | T | 256 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.26-7822C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009420 | |||||||
| chr1:245009470 | A | AT | 229 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(226): Show |
230 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
intron_variant | MODIFIER | c.26-7757dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245009470 | ||||||
| chr1:245009470 | A | ATT | 7 | a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0202 others(4): Show |
7 | HG02074.hp2 HG03540.hp1 HG04115.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-7758_26-7757dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245009470 | ||||||
| chr1:245009477 | T | TTC | 8 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.26-7764_26-7763ins others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245009477 | ||||||
| chr1:245009530 | C | T | 1 | a0001c0001t0003g0036 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.26-7712C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009530 | |||||||
| chr1:245009732 | G | T | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.26-7510G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009732 | |||||||
| chr1:245009759 | G | A | 5 | a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0104 others(2): Show |
5 | HG00609.hp2 HG03831.hp2 NA18612.hp2 others(2): Show |
intron_variant | MODIFIER | c.26-7483G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009759 | |||||||
| chr1:245009765 | C | T | 3 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0011g0278 |
3 | HG02135.hp1 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.26-7477C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009765 | |||||||
| chr1:245009837 | A | G | 2 | a0001c0001t0003g0052 a0001c0001t0003g0064 |
2 | HG01167.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.26-7405A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009837 | |||||||
| chr1:245009941 | A | G | 1 | a0001c0001t0003g0079 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.26-7301A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245009941 | |||||||
| chr1:245010005 | C | T | 1 | a0001c0001t0001g0282 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.26-7237C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010005 | |||||||
| chr1:245010009 | C | T | 144 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(141): Show |
144 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.26-7233C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010009 | |||||||
| chr1:245010013 | A | C | 117 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(114): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.26-7229A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010013 | |||||||
| chr1:245010108 | A | G | 3 | a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 |
3 | HG01993.hp1 HG02027.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.26-7134A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010108 | |||||||
| chr1:245010158 | A | G | 107 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(104): Show |
108 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.26-7084A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010158 | |||||||
| chr1:245010188 | C | A | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.26-7054C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010188 | |||||||
| chr1:245010391 | G | A | 1 | a0001c0001t0001g0238 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.26-6851G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010391 | |||||||
| chr1:245010505 | A | G | 107 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(104): Show |
108 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.26-6737A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010505 | |||||||
| chr1:245010601 | A | G | 100 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(97): Show |
101 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.26-6641A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010601 | |||||||
| chr1:245010630 | G | A | 1 | a0001c0002t0002g0289 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.26-6612G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010630 | |||||||
| chr1:245010648 | T | C | 2 | a0001c0002t0002g0085 a0001c0002t0002g0086 |
2 | HG00280.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.26-6594T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010648 | |||||||
| chr1:245010681 | C | CT | 12 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(9): Show |
12 | HG00140.hp2 HG00280.hp2 HG01099.hp1 others(9): Show |
intron_variant | MODIFIER | c.26-6543dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245010681 | ||||||
| chr1:245010681 | C | CTT | 82 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 others(79): Show |
83 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(80): Show |
intron_variant | MODIFIER | c.26-6544_26-6543dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245010681 | ||||||
| chr1:245010683 | T | TTC | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-6558_26-6557ins others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245010683 | ||||||
| chr1:245010685 | T | A | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-6557T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010685 | |||||||
| chr1:245010685 | T | C | 1 | a0001c0001t0003g0077 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.26-6557T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010685 | |||||||
| chr1:245010750 | C | T | 1 | a0001c0001t0003g0066 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.26-6492C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010750 | |||||||
| chr1:245010897 | G | T | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-6345G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010897 | |||||||
| chr1:245010970 | C | T | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-6272C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010970 | |||||||
| chr1:245010971 | G | A | 8 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.26-6271G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010971 | |||||||
| chr1:245010973 | G | A | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.26-6269G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245010973 | |||||||
| chr1:245011017 | G | A | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-6225G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245011017 | |||||||
| chr1:245011217 | A | G | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-6025A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245011217 | |||||||
| chr1:245011299 | T | C | 1 | a0001c0002t0004g0112 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.26-5943T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245011299 | |||||||
| chr1:245011473 | C | T | 1 | a0001c0001t0003g0016 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.26-5769C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245011473 | |||||||
| chr1:245011737 | G | A | 3 | a0001c0001t0001g0107 a0001c0002t0002g0216 a0001c0002t0002g0226 |
3 | NA18989.hp1 NA19083.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.26-5505G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245011737 | |||||||
| chr1:245011939 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.26-5303G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245011939 | |||||||
| chr1:245011949 | C | T | 1 | a0001c0002t0004g0063 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.26-5293C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245011949 | |||||||
| chr1:245012049 | A | G | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.26-5193A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245012049 | |||||||
| chr1:245012486 | T | TGAAAGAT others(305): Show |
18 | a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0160 others(15): Show |
18 | HG01433.hp1 HG02258.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.26-4746_26-4745ins others(312): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245012486 | ||||||
| chr1:245012486 | T | TGAAAGAT others(306): Show |
3 | a0001c0001t0001g0161 a0001c0001t0001g0277 a0001c0002t0002g0273 |
3 | HG02055.hp1 HG02486.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.26-4746_26-4745ins others(313): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245012486 | ||||||
| chr1:245012695 | A | C | 3 | a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0003g0091 |
3 | HG00099.hp1 HG01106.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.26-4547A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245012695 | |||||||
| chr1:245012787 | G | A | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-4455G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245012787 | |||||||
| chr1:245012919 | A | G | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.26-4323A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245012919 | |||||||
| chr1:245013022 | C | T | 1 | a0001c0001t0003g0037 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.26-4220C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245013022 | |||||||
| chr1:245013152 | C | CAAAA | 5 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(2): Show |
5 | HG01261.hp1 HG02258.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.26-4087_26-4086ins others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245013152 | ||||||
| chr1:245013160 | C | A | 5 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(2): Show |
5 | HG01261.hp1 HG02258.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.26-4082C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245013160 | |||||||
| chr1:245013160 | C | CAAAA | 251 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(248): Show |
252 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(249): Show |
intron_variant | MODIFIER | c.26-4079_26-4078ins others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245013160 | ||||||
| chr1:245013189 | T | C | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.26-4053T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245013189 | |||||||
| chr1:245013560 | T | C | 1 | a0001c0002t0004g0112 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.26-3682T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245013560 | |||||||
| chr1:245013573 | A | ACAAC | 107 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(104): Show |
108 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.26-3668_26-3667ins others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245013573 | ||||||
| chr1:245013837 | T | C | 1 | a0001c0002t0002g0213 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.26-3405T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245013837 | |||||||
| chr1:245013876 | C | T | 1 | a0001c0001t0001g0144 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.26-3366C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245013876 | |||||||
| chr1:245014031 | C | CA | 163 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(160): Show |
163 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(160): Show |
intron_variant | MODIFIER | c.26-3193dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245014031 | ||||||
| chr1:245014031 | C | CAA | 104 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 others(101): Show |
105 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(102): Show |
intron_variant | MODIFIER | c.26-3194_26-3193dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245014031 | ||||||
| chr1:245014052 | C | CA | 11 | a0001c0001t0001g0144 a0001c0002t0002g0137 a0001c0002t0002g0139 others(8): Show |
11 | HG00735.hp2 HG00741.hp1 HG01981.hp1 others(8): Show |
intron_variant | MODIFIER | c.26-3181dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245014052 | ||||||
| chr1:245014071 | A | AT | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-3171_26-3170ins others(1): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014071 | |||||||
| chr1:245014072 | A | T | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-3170A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014072 | |||||||
| chr1:245014073 | A | T | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-3169A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014073 | |||||||
| chr1:245014074 | A | T | 76 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(73): Show |
76 | HG00140.hp1 HG00423.hp2 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.26-3168A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014074 | |||||||
| chr1:245014079 | A | G | 1 | a0001c0001t0001g0287 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.26-3163A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014079 | |||||||
| chr1:245014138 | C | T | 1 | a0001c0001t0003g0074 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.26-3104C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014138 | |||||||
| chr1:245014220 | ACCTGGAA others(9): Show |
A | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.26-3020_26-3005del others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245014220 | ||||||
| chr1:245014262 | C | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.26-2980C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014262 | |||||||
| chr1:245014677 | G | C | 1 | a0001c0001t0003g0028 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.26-2565G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014677 | |||||||
| chr1:245014822 | C | T | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-2420C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014822 | |||||||
| chr1:245014833 | G | A | 65 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(62): Show |
66 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.26-2409G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245014833 | |||||||
| chr1:245014864 | C | CA | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.26-2377dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245014864 | ||||||
| chr1:245015229 | G | A | 14 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0194 others(11): Show |
15 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.26-2013G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015229 | |||||||
| chr1:245015233 | G | T | 1 | a0001c0001t0001g0188 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.26-2009G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015233 | |||||||
| chr1:245015406 | C | T | 1 | a0001c0001t0001g0126 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.26-1836C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015406 | |||||||
| chr1:245015432 | C | T | 2 | a0001c0002t0002g0139 a0001c0002t0002g0196 |
2 | HG00741.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.26-1810C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015432 | |||||||
| chr1:245015515 | C | T | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.26-1727C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015515 | |||||||
| chr1:245015709 | CA | C | 144 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(141): Show |
144 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.26-1517delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245015709 | ||||||
| chr1:245015723 | A | G | 1 | a0001c0001t0001g0108 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.26-1519A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015723 | |||||||
| chr1:245015724 | AAG | A | 45 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(42): Show |
45 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(42): Show |
intron_variant | MODIFIER | c.26-1516_26-1515del others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245015724 | ||||||
| chr1:245015725 | AG | A | 17 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0194 others(14): Show |
18 | HG02015.hp1 HG02055.hp2 HG02135.hp1 others(15): Show |
intron_variant | MODIFIER | c.26-1516delG | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015725 | |||||||
| chr1:245015726 | G | A | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-1516G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015726 | |||||||
| chr1:245015869 | C | T | 145 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(142): Show |
145 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(142): Show |
intron_variant | MODIFIER | c.26-1373C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015869 | |||||||
| chr1:245015886 | G | T | 214 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(211): Show |
215 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
intron_variant | MODIFIER | c.26-1356G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015886 | |||||||
| chr1:245015910 | C | A | 58 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(55): Show |
59 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.26-1332C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245015910 | |||||||
| chr1:245015965 | C | CT | 86 | a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0160 others(83): Show |
86 | HG00140.hp1 HG00423.hp2 HG00597.hp2 others(83): Show |
intron_variant | MODIFIER | c.26-1252dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245015965 | ||||||
| chr1:245015965 | C | CTT | 49 | a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0138 others(46): Show |
49 | HG00597.hp1 HG00621.hp1 HG00741.hp1 others(46): Show |
intron_variant | MODIFIER | c.26-1253_26-1252dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245015965 | ||||||
| chr1:245015965 | C | CTTT | 19 | a0001c0001t0001g0121 a0001c0001t0001g0174 a0001c0001t0001g0178 others(16): Show |
20 | HG00609.hp1 HG00673.hp2 HG02040.hp2 others(17): Show |
intron_variant | MODIFIER | c.26-1254_26-1252dup others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245015965 | ||||||
| chr1:245015965 | CTTTTTTT others(5): Show |
C | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-1263_26-1252del others(12): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | 245015965 | ||||||
| chr1:245016068 | G | A | 34 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.26-1174G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016068 | |||||||
| chr1:245016085 | A | C | 5 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(2): Show |
5 | HG01261.hp1 HG02258.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.26-1157A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016085 | |||||||
| chr1:245016121 | A | G | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-1121A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016121 | |||||||
| chr1:245016133 | C | T | 1 | a0001c0001t0003g0081 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.26-1109C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016133 | |||||||
| chr1:245016207 | C | T | 117 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(114): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.26-1035C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016207 | |||||||
| chr1:245016214 | C | T | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.26-1028C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016214 | |||||||
| chr1:245016221 | A | C | 1 | a0001c0001t0001g0018 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.26-1021A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016221 | |||||||
| chr1:245016265 | G | A | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-977G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016265 | |||||||
| chr1:245016409 | G | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.26-833G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016409 | |||||||
| chr1:245016481 | C | A | 1 | a0001c0002t0002g0100 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.26-761C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016481 | |||||||
| chr1:245016547 | G | T | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.26-695G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016547 | |||||||
| chr1:245016658 | A | G | 117 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(114): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.26-584A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016658 | |||||||
| chr1:245016687 | G | T | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.26-555G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016687 | |||||||
| chr1:245016778 | T | C | 34 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.26-464T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016778 | |||||||
| chr1:245016895 | C | T | 1 | a0001c0001t0001g0122 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.26-347C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016895 | |||||||
| chr1:245016916 | G | A | 1 | a0001c0001t0001g0178 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.26-326G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016916 | |||||||
| chr1:245016942 | C | T | 3 | a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 |
3 | HG02723.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.26-300C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245016942 | |||||||
| chr1:245017208 | G | A | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.26-34G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | chr1 | 245017208 | |||||||
| chr1:245017337 | AT | A | 63 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(60): Show |
64 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.110+22delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245017337 | ||||||
| chr1:245017375 | G | T | 3 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 |
3 | HG00642.hp1 HG01099.hp1 HG01167.hp1 |
intron_variant | MODIFIER | c.110+49G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245017375 | |||||||
| chr1:245017442 | G | T | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.110+116G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245017442 | |||||||
| chr1:245017448 | A | G | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.110+122A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245017448 | |||||||
| chr1:245017470 | T | C | 2 | a0001c0001t0002g0193 a0001c0001t0002g0197 |
2 | HG02145.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.110+144T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245017470 | |||||||
| chr1:245017504 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.110+178C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245017504 | |||||||
| chr1:245017536 | C | T | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+210C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245017536 | |||||||
| chr1:245017564 | T | TA | 214 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(211): Show |
215 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
intron_variant | MODIFIER | c.110+240dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245017564 | ||||||
| chr1:245017738 | G | A | 1 | a0001c0002t0002g0154 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.110+412G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245017738 | |||||||
| chr1:245017796 | G | A | 65 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(62): Show |
66 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.110+470G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245017796 | |||||||
| chr1:245017805 | G | A | 34 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.110+479G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245017805 | |||||||
| chr1:245018033 | C | A | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+707C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018033 | |||||||
| chr1:245018083 | C | T | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+757C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018083 | |||||||
| chr1:245018119 | T | C | 3 | a0001c0001t0003g0029 a0001c0001t0003g0043 a0001c0001t0003g0056 |
3 | NA18949.hp1 NA18998.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.110+793T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018119 | |||||||
| chr1:245018207 | A | G | 3 | a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0009g0232 |
3 | NA18961.hp2 NA18983.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.110+881A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018207 | |||||||
| chr1:245018214 | G | A | 1 | a0001c0001t0001g0174 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.110+888G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018214 | |||||||
| chr1:245018226 | C | CA | 39 | a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0123 others(36): Show |
40 | HG01109.hp1 HG01109.hp2 HG01516.hp1 others(37): Show |
intron_variant | MODIFIER | c.110+921dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245018226 | ||||||
| chr1:245018226 | C | CAA | 11 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(8): Show |
11 | HG00140.hp2 HG00642.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.110+920_110+921dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245018226 | ||||||
| chr1:245018226 | CA | C | 53 | a0001c0001t0001g0144 a0001c0002t0002g0116 a0001c0002t0002g0117 others(50): Show |
53 | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(50): Show |
intron_variant | MODIFIER | c.110+921delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245018226 | ||||||
| chr1:245018312 | C | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.110+986C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018312 | |||||||
| chr1:245018318 | C | G | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+992C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018318 | |||||||
| chr1:245018471 | A | G | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+1145A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018471 | |||||||
| chr1:245018513 | A | T | 1 | a0001c0002t0002g0169 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.110+1187A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018513 | |||||||
| chr1:245018573 | C | T | 117 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(114): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.110+1247C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018573 | |||||||
| chr1:245018657 | C | T | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.110+1331C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018657 | |||||||
| chr1:245018791 | T | C | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+1465T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018791 | |||||||
| chr1:245018795 | C | T | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+1469C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245018795 | |||||||
| chr1:245019101 | G | A | 11 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 others(8): Show |
11 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(8): Show |
intron_variant | MODIFIER | c.110+1775G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245019101 | |||||||
| chr1:245019174 | G | T | 1 | a0001c0001t0003g0114 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.110+1848G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245019174 | |||||||
| chr1:245019305 | A | AATC | 65 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(62): Show |
66 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.110+1981_110+1982i others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245019305 | ||||||
| chr1:245019434 | C | A | 34 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.110+2108C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245019434 | |||||||
| chr1:245019497 | C | T | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.110+2171C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245019497 | |||||||
| chr1:245019935 | A | C | 3 | a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 |
3 | HG02895.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.110+2609A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245019935 | |||||||
| chr1:245020062 | GC | G | 65 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(62): Show |
66 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.110+2741delC | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245020062 | ||||||
| chr1:245020079 | G | A | 2 | a0001c0001t0001g0144 a0001c0002t0002g0155 |
2 | HG01981.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.110+2753G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020079 | |||||||
| chr1:245020187 | T | C | 2 | a0001c0002t0002g0250 a0001c0002t0002g0251 |
2 | NA18941.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.110+2861T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020187 | |||||||
| chr1:245020277 | C | G | 206 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(203): Show |
207 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(204): Show |
intron_variant | MODIFIER | c.110+2951C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020277 | |||||||
| chr1:245020312 | G | A | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.110+2986G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020312 | |||||||
| chr1:245020325 | G | A | 1 | a0002c0003t0001g0252 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.110+2999G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020325 | |||||||
| chr1:245020559 | A | G | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.110+3233A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020559 | |||||||
| chr1:245020581 | G | T | 214 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(211): Show |
215 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
intron_variant | MODIFIER | c.110+3255G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020581 | |||||||
| chr1:245020613 | C | CT | 19 | a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 others(16): Show |
19 | HG00642.hp2 HG01109.hp2 HG02027.hp1 others(16): Show |
intron_variant | MODIFIER | c.110+3312dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245020613 | ||||||
| chr1:245020613 | C | CTT | 24 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0178 others(21): Show |
24 | HG00609.hp1 HG01081.hp1 HG01255.hp1 others(21): Show |
intron_variant | MODIFIER | c.110+3311_110+3312d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245020613 | ||||||
| chr1:245020613 | C | CTTT | 6 | a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0211 others(3): Show |
6 | HG00597.hp1 HG00673.hp2 HG03831.hp1 others(3): Show |
intron_variant | MODIFIER | c.110+3310_110+3312d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245020613 | ||||||
| chr1:245020613 | CT | C | 130 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(127): Show |
130 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.110+3312delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245020613 | ||||||
| chr1:245020613 | CTT | C | 6 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(3): Show |
6 | HG00642.hp1 HG01099.hp1 HG01167.hp1 others(3): Show |
intron_variant | MODIFIER | c.110+3311_110+3312d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245020613 | ||||||
| chr1:245020613 | CTTT | C | 18 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(15): Show |
19 | HG00140.hp2 HG00280.hp2 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.110+3310_110+3312d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245020613 | ||||||
| chr1:245020620 | T | C | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.110+3294T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020620 | |||||||
| chr1:245020689 | A | G | 207 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(204): Show |
208 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(205): Show |
intron_variant | MODIFIER | c.110+3363A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020689 | |||||||
| chr1:245020769 | G | A | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.110+3443G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020769 | |||||||
| chr1:245020794 | AT | A | 6 | a0001c0001t0001g0127 a0001c0001t0002g0193 a0001c0001t0002g0197 others(3): Show |
6 | HG02145.hp2 HG02897.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.110+3483delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245020794 | ||||||
| chr1:245020795 | T | A | 1 | a0001c0001t0001g0109 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.110+3469T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020795 | |||||||
| chr1:245020871 | C | A | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.110+3545C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020871 | |||||||
| chr1:245020921 | C | T | 1 | a0001c0002t0002g0097 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.110+3595C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020921 | |||||||
| chr1:245020984 | C | G | 1 | a0001c0001t0001g0113 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.110+3658C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020984 | |||||||
| chr1:245020984 | C | T | 4 | a0001c0001t0001g0123 a0001c0001t0001g0181 a0001c0001t0001g0182 others(1): Show |
4 | HG02486.hp2 HG02970.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.110+3658C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245020984 | |||||||
| chr1:245021127 | C | A | 65 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(62): Show |
66 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.110+3801C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245021127 | |||||||
| chr1:245021202 | G | C | 1 | a0001c0001t0003g0081 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.110+3876G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245021202 | |||||||
| chr1:245021204 | T | C | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.110+3878T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245021204 | |||||||
| chr1:245021421 | T | TTA | 58 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(55): Show |
59 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.110+4106_110+4107d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245021421 | ||||||
| chr1:245021593 | G | A | 1 | a0001c0001t0001g0194 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.110+4267G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245021593 | |||||||
| chr1:245021715 | C | T | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.110+4389C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245021715 | |||||||
| chr1:245021771 | G | C | 118 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(115): Show |
118 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(115): Show |
intron_variant | MODIFIER | c.110+4445G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245021771 | |||||||
| chr1:245021779 | CCT | C | 10 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(7): Show |
10 | HG01109.hp2 HG01358.hp2 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.110+4454_110+4455d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245021779 | |||||||
| chr1:245021836 | T | C | 1 | a0001c0001t0003g0017 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.110+4510T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245021836 | |||||||
| chr1:245021934 | C | T | 13 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0143 others(10): Show |
14 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.110+4608C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245021934 | |||||||
| chr1:245022072 | C | T | 2 | a0001c0002t0002g0148 a0001c0002t0002g0170 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.110+4746C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245022072 | |||||||
| chr1:245022105 | C | G | 58 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(55): Show |
59 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.110+4779C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245022105 | |||||||
| chr1:245022149 | C | CT | 64 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(61): Show |
65 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(62): Show |
intron_variant | MODIFIER | c.110+4838dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245022149 | ||||||
| chr1:245022164 | T | C | 1 | a0001c0001t0001g0104 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.110+4838T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245022164 | |||||||
| chr1:245022204 | G | A | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.110+4878G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245022204 | |||||||
| chr1:245022320 | AT | A | 9 | a0001c0001t0001g0006 a0001c0001t0001g0095 a0001c0001t0001g0119 others(6): Show |
9 | HG01496.hp2 HG02486.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.110+5007delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245022320 | ||||||
| chr1:245022542 | A | G | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0008g0288 others(1): Show |
4 | HG02135.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.110+5216A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245022542 | |||||||
| chr1:245022603 | C | A | 1 | a0001c0001t0001g0242 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.110+5277C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245022603 | |||||||
| chr1:245022824 | A | G | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.110+5498A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245022824 | |||||||
| chr1:245022935 | G | A | 1 | a0001c0001t0001g0279 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.110+5609G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245022935 | |||||||
| chr1:245023000 | A | C | 1 | a0001c0002t0002g0155 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.110+5674A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023000 | |||||||
| chr1:245023203 | G | A | 1 | a0001c0001t0003g0030 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.110+5877G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023203 | |||||||
| chr1:245023387 | A | C | 1 | a0001c0001t0003g0017 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.110+6061A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023387 | |||||||
| chr1:245023432 | G | C | 73 | a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0281 others(70): Show |
73 | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(70): Show |
intron_variant | MODIFIER | c.110+6106G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023432 | |||||||
| chr1:245023449 | T | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.110+6123T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023449 | |||||||
| chr1:245023467 | G | A | 1 | a0001c0001t0003g0037 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.110+6141G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023467 | |||||||
| chr1:245023549 | T | C | 24 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(21): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.110+6223T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023549 | |||||||
| chr1:245023730 | G | A | 4 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 others(1): Show |
4 | HG00741.hp2 HG01978.hp1 HG02148.hp2 others(1): Show |
intron_variant | MODIFIER | c.110+6404G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023730 | |||||||
| chr1:245023798 | C | T | 1 | a0001c0001t0003g0039 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.110+6472C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023798 | |||||||
| chr1:245023808 | A | G | 1 | a0001c0001t0001g0113 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.110+6482A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023808 | |||||||
| chr1:245023832 | A | C | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.110+6506A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023832 | |||||||
| chr1:245023895 | C | T | 3 | a0001c0002t0002g0212 a0001c0002t0002g0249 a0001c0002t0002g0256 |
3 | HG00140.hp1 HG01515.hp2 HG02300.hp1 |
intron_variant | MODIFIER | c.110+6569C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023895 | |||||||
| chr1:245023899 | G | C | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.110+6573G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023899 | |||||||
| chr1:245023924 | C | G | 6 | a0001c0001t0003g0034 a0001c0001t0003g0062 a0001c0002t0004g0033 others(3): Show |
6 | HG02015.hp2 HG02129.hp2 NA18952.hp1 others(3): Show |
intron_variant | MODIFIER | c.110+6598C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245023924 | |||||||
| chr1:245024014 | A | T | 6 | a0001c0001t0003g0034 a0001c0001t0003g0062 a0001c0002t0004g0033 others(3): Show |
6 | HG02015.hp2 HG02129.hp2 NA18952.hp1 others(3): Show |
intron_variant | MODIFIER | c.110+6688A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024014 | |||||||
| chr1:245024085 | G | A | 1 | a0001c0001t0001g0122 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.110+6759G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024085 | |||||||
| chr1:245024170 | C | CA | 6 | a0001c0001t0001g0241 a0001c0002t0002g0213 a0001c0002t0002g0217 others(3): Show |
6 | HG03831.hp1 NA18946.hp2 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.110+6856dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245024170 | ||||||
| chr1:245024340 | G | A | 1 | a0001c0001t0001g0209 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.110+7014G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024340 | |||||||
| chr1:245024475 | T | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.110+7149T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024475 | |||||||
| chr1:245024551 | C | CT | 12 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(9): Show |
12 | HG01358.hp1 HG01496.hp2 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.110+7239dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245024551 | ||||||
| chr1:245024551 | C | CTT | 61 | a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0144 others(58): Show |
61 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.110+7238_110+7239d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245024551 | ||||||
| chr1:245024551 | C | CTTT | 12 | a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0233 others(9): Show |
12 | HG00423.hp2 HG02132.hp2 HG02523.hp2 others(9): Show |
intron_variant | MODIFIER | c.110+7237_110+7239d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245024551 | ||||||
| chr1:245024553 | T | C | 1 | a0001c0001t0001g0124 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.110+7227T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024553 | |||||||
| chr1:245024576 | C | G | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0008g0288 others(1): Show |
4 | HG02135.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.110+7250C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024576 | |||||||
| chr1:245024579 | G | A | 58 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(55): Show |
59 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.110+7253G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024579 | |||||||
| chr1:245024610 | C | T | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.110+7284C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024610 | |||||||
| chr1:245024891 | G | A | 65 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(62): Show |
66 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.110+7565G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024891 | |||||||
| chr1:245024963 | T | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.110+7637T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245024963 | |||||||
| chr1:245025640 | G | A | 1 | a0001c0001t0003g0011 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.110+8314G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245025640 | |||||||
| chr1:245025759 | G | A | 1 | a0001c0002t0002g0155 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.110+8433G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245025759 | |||||||
| chr1:245025788 | G | A | 4 | a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0106 others(1): Show |
4 | HG03831.hp2 NA18612.hp2 NA18966.hp1 others(1): Show |
intron_variant | MODIFIER | c.110+8462G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245025788 | |||||||
| chr1:245025847 | C | T | 1 | a0001c0001t0001g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.110+8521C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245025847 | |||||||
| chr1:245025935 | T | C | 215 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(212): Show |
215 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
intron_variant | MODIFIER | c.110+8609T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245025935 | |||||||
| chr1:245025952 | A | G | 170 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(167): Show |
170 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(167): Show |
intron_variant | MODIFIER | c.110+8626A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245025952 | |||||||
| chr1:245026085 | T | G | 30 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(27): Show |
30 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(27): Show |
intron_variant | MODIFIER | c.110+8759T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245026085 | |||||||
| chr1:245026564 | A | G | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.110+9238A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245026564 | |||||||
| chr1:245026850 | T | G | 284 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(281): Show |
285 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
intron_variant | MODIFIER | c.110+9524T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245026850 | |||||||
| chr1:245026851 | A | G | 1 | a0001c0001t0001g0287 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.110+9525A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245026851 | |||||||
| chr1:245027025 | G | A | 1 | a0001c0001t0003g0013 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.110+9699G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245027025 | |||||||
| chr1:245027164 | A | C | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.110+9838A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245027164 | |||||||
| chr1:245027271 | CTAT | C | 165 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0119 others(162): Show |
165 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(162): Show |
intron_variant | MODIFIER | c.110+9950_110+9952d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245027271 | ||||||
| chr1:245027284 | G | A | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.110+9958G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245027284 | |||||||
| chr1:245027313 | G | A | 226 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0118 others(223): Show |
227 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(224): Show |
intron_variant | MODIFIER | c.110+9987G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245027313 | |||||||
| chr1:245027332 | A | G | 163 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0185 others(160): Show |
163 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(160): Show |
intron_variant | MODIFIER | c.110+10006A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245027332 | |||||||
| chr1:245027384 | GA | G | 3 | a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 |
3 | HG03130.hp1 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.110+10064delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245027384 | ||||||
| chr1:245027595 | G | A | 5 | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0181 others(2): Show |
5 | HG02486.hp2 HG02970.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.110+10269G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245027595 | |||||||
| chr1:245027667 | G | A | 270 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(267): Show |
271 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show |
intron_variant | MODIFIER | c.110+10341G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245027667 | |||||||
| chr1:245027739 | C | T | 1 | a0001c0002t0004g0112 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.110+10413C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245027739 | |||||||
| chr1:245027793 | C | A | 80 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0142 others(77): Show |
80 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
intron_variant | MODIFIER | c.110+10467C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245027793 | |||||||
| chr1:245027870 | GT | G | 79 | a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0122 others(76): Show |
79 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(76): Show |
intron_variant | MODIFIER | c.110+10559delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245027870 | ||||||
| chr1:245028044 | A | G | 1 | a0001c0001t0003g0078 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.110+10718A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028044 | |||||||
| chr1:245028049 | A | T | 2 | a0001c0001t0001g0236 a0001c0001t0001g0239 |
2 | NA18747.hp2 NA19072.hp2 |
intron_variant | MODIFIER | c.110+10723A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028049 | |||||||
| chr1:245028099 | A | G | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0008g0288 others(1): Show |
4 | HG02135.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.110+10773A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028099 | |||||||
| chr1:245028117 | C | T | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.110+10791C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028117 | |||||||
| chr1:245028294 | G | A | 15 | a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0145 others(12): Show |
15 | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.110+10968G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028294 | |||||||
| chr1:245028349 | A | G | 4 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 others(1): Show |
4 | HG00741.hp2 HG01978.hp1 HG02148.hp2 others(1): Show |
intron_variant | MODIFIER | c.110+11023A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028349 | |||||||
| chr1:245028536 | C | T | 1 | a0001c0001t0001g0144 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.110+11210C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028536 | |||||||
| chr1:245028591 | C | T | 133 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(130): Show |
134 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(131): Show |
intron_variant | MODIFIER | c.110+11265C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028591 | |||||||
| chr1:245028944 | C | A | 79 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0002t0002g0085 others(76): Show |
79 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(76): Show |
intron_variant | MODIFIER | c.110+11618C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028944 | |||||||
| chr1:245028994 | T | C | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+11668T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245028994 | |||||||
| chr1:245029170 | T | C | 77 | a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 others(74): Show |
77 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(74): Show |
intron_variant | MODIFIER | c.110+11844T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029170 | |||||||
| chr1:245029218 | C | CCATT | 3 | a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 |
3 | HG03130.hp1 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.110+11893_110+1189 others(8): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245029218 | ||||||
| chr1:245029300 | G | A | 1 | a0001c0002t0002g0169 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.110+11974G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029300 | |||||||
| chr1:245029500 | G | A | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.110+12174G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029500 | |||||||
| chr1:245029535 | T | C | 1 | a0001c0001t0003g0057 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.110+12209T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029535 | |||||||
| chr1:245029584 | C | T | 6 | a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 others(3): Show |
6 | HG00140.hp2 HG00280.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.110+12258C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029584 | |||||||
| chr1:245029627 | G | C | 7 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(4): Show |
8 | HG02055.hp2 HG02145.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.110+12301G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029627 | |||||||
| chr1:245029639 | G | A | 8 | a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0078 others(5): Show |
8 | NA18962.hp2 NA18970.hp1 NA18984.hp1 others(5): Show |
intron_variant | MODIFIER | c.110+12313G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029639 | |||||||
| chr1:245029816 | G | C | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.110+12490G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029816 | |||||||
| chr1:245029865 | G | T | 1 | a0001c0001t0003g0057 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.110+12539G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029865 | |||||||
| chr1:245029934 | T | A | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.110+12608T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245029934 | |||||||
| chr1:245030229 | A | G | 3 | a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0060 |
3 | HG00738.hp1 HG01099.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.110+12903A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245030229 | |||||||
| chr1:245030323 | C | T | 3 | a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0107 |
3 | NA18612.hp2 NA18966.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.110+12997C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245030323 | |||||||
| chr1:245030336 | T | C | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.110+13010T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245030336 | |||||||
| chr1:245030388 | T | C | 1 | a0001c0001t0003g0035 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.110+13062T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245030388 | |||||||
| chr1:245030607 | T | C | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.110+13281T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245030607 | |||||||
| chr1:245030621 | T | C | 133 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(130): Show |
134 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(131): Show |
intron_variant | MODIFIER | c.110+13295T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245030621 | |||||||
| chr1:245030847 | C | T | 53 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(50): Show |
54 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(51): Show |
intron_variant | MODIFIER | c.110+13521C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245030847 | |||||||
| chr1:245031084 | T | C | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.110+13758T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031084 | |||||||
| chr1:245031141 | A | C | 133 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(130): Show |
134 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(131): Show |
intron_variant | MODIFIER | c.110+13815A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031141 | |||||||
| chr1:245031316 | T | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.110+13990T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031316 | |||||||
| chr1:245031482 | T | G | 133 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(130): Show |
134 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(131): Show |
intron_variant | MODIFIER | c.110+14156T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031482 | |||||||
| chr1:245031484 | G | A | 20 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(17): Show |
21 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.110+14158G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031484 | |||||||
| chr1:245031557 | C | T | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.110+14231C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031557 | |||||||
| chr1:245031605 | T | G | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.110+14279T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031605 | |||||||
| chr1:245031702 | C | T | 1 | a0001c0002t0002g0254 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.110+14376C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031702 | |||||||
| chr1:245031762 | C | T | 79 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0002t0002g0085 others(76): Show |
79 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(76): Show |
intron_variant | MODIFIER | c.110+14436C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031762 | |||||||
| chr1:245031767 | G | A | 1 | a0001c0001t0007g0243 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.110+14441G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031767 | |||||||
| chr1:245031988 | A | G | 19 | a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 others(16): Show |
19 | HG00280.hp1 HG00735.hp2 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.110+14662A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245031988 | |||||||
| chr1:245032011 | G | T | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.110+14685G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245032011 | |||||||
| chr1:245032210 | A | T | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.110+14884A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245032210 | |||||||
| chr1:245032315 | T | C | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+14989T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245032315 | |||||||
| chr1:245032657 | T | C | 1 | a0001c0001t0001g0108 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.110+15331T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245032657 | |||||||
| chr1:245032665 | C | T | 279 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(276): Show |
280 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
intron_variant | MODIFIER | c.110+15339C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245032665 | |||||||
| chr1:245032697 | G | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.110+15371G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245032697 | |||||||
| chr1:245032726 | G | A | 20 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(17): Show |
21 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.110+15400G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245032726 | |||||||
| chr1:245032749 | T | C | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+15423T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245032749 | |||||||
| chr1:245032996 | C | A | 34 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.110+15670C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245032996 | |||||||
| chr1:245033022 | C | T | 111 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(108): Show |
111 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.110+15696C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033022 | |||||||
| chr1:245033107 | A | G | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+15781A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033107 | |||||||
| chr1:245033345 | C | T | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.110+16019C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033345 | |||||||
| chr1:245033360 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.110+16034C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033360 | |||||||
| chr1:245033414 | AT | A | 34 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.110+16090delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245033414 | ||||||
| chr1:245033465 | T | C | 279 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(276): Show |
280 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
intron_variant | MODIFIER | c.110+16139T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033465 | |||||||
| chr1:245033614 | G | A | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+16288G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033614 | |||||||
| chr1:245033631 | C | T | 15 | a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0145 others(12): Show |
15 | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.110+16305C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033631 | |||||||
| chr1:245033783 | G | A | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.110+16457G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033783 | |||||||
| chr1:245033799 | G | A | 80 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0008g0288 others(77): Show |
80 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
intron_variant | MODIFIER | c.110+16473G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033799 | |||||||
| chr1:245033870 | C | A | 34 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.110+16544C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033870 | |||||||
| chr1:245033888 | A | T | 1 | a0001c0002t0002g0155 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.110+16562A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033888 | |||||||
| chr1:245033998 | G | A | 27 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(24): Show |
27 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.110+16672G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245033998 | |||||||
| chr1:245034066 | T | C | 3 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0011g0278 |
3 | HG02135.hp1 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.110+16740T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034066 | |||||||
| chr1:245034213 | T | C | 81 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 others(78): Show |
81 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(78): Show |
intron_variant | MODIFIER | c.110+16887T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034213 | |||||||
| chr1:245034216 | A | G | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.110+16890A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034216 | |||||||
| chr1:245034309 | A | G | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+16983A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034309 | |||||||
| chr1:245034321 | A | C | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+16995A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034321 | |||||||
| chr1:245034355 | T | C | 137 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(134): Show |
138 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.110+17029T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034355 | |||||||
| chr1:245034411 | G | A | 19 | a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 others(16): Show |
19 | HG00280.hp1 HG00735.hp2 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.110+17085G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034411 | |||||||
| chr1:245034429 | T | C | 137 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(134): Show |
138 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.110+17103T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034429 | |||||||
| chr1:245034529 | A | G | 20 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(17): Show |
21 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.110+17203A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034529 | |||||||
| chr1:245034553 | A | G | 7 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show |
7 | HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+17227A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034553 | |||||||
| chr1:245034600 | C | CA | 20 | a0001c0001t0001g0120 a0001c0001t0001g0143 a0001c0001t0001g0166 others(17): Show |
20 | HG00099.hp2 HG00597.hp2 HG02015.hp2 others(17): Show |
intron_variant | MODIFIER | c.110+17301dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034600 | ||||||
| chr1:245034600 | C | CAA | 29 | a0001c0001t0001g0121 a0001c0001t0001g0174 a0001c0001t0001g0176 others(26): Show |
29 | HG00609.hp1 HG01081.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.110+17300_110+1730 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034600 | ||||||
| chr1:245034600 | C | CAAA | 8 | a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0203 others(5): Show |
8 | HG00597.hp1 HG00673.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.110+17299_110+1730 others(7): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034600 | ||||||
| chr1:245034600 | CA | C | 7 | a0001c0001t0001g0004 a0001c0001t0001g0279 a0001c0001t0001g0280 others(4): Show |
7 | HG02145.hp2 HG03098.hp2 HG03471.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+17301delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034600 | ||||||
| chr1:245034600 | CAA | C | 9 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0195 others(6): Show |
10 | HG02055.hp2 HG02257.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.110+17300_110+1730 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034600 | ||||||
| chr1:245034600 | CAAAA | C | 39 | a0001c0002t0002g0116 a0001c0002t0002g0139 a0001c0002t0002g0151 others(36): Show |
39 | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.110+17298_110+1730 others(8): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034600 | ||||||
| chr1:245034600 | CAAAAA | C | 33 | a0001c0001t0008g0288 a0001c0002t0002g0085 a0001c0002t0002g0086 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG00642.hp2 others(30): Show |
intron_variant | MODIFIER | c.110+17297_110+1730 others(9): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034600 | ||||||
| chr1:245034623 | A | G | 4 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 others(1): Show |
4 | HG02258.hp1 HG02559.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.110+17297A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034623 | |||||||
| chr1:245034860 | G | GT | 18 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(15): Show |
19 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(16): Show |
intron_variant | MODIFIER | c.110+17550dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034860 | ||||||
| chr1:245034860 | G | GTT | 36 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(33): Show |
36 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(33): Show |
intron_variant | MODIFIER | c.110+17549_110+1755 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034860 | ||||||
| chr1:245034860 | GT | G | 133 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(130): Show |
133 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show |
intron_variant | MODIFIER | c.110+17550delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245034860 | ||||||
| chr1:245034880 | A | C | 2 | a0001c0001t0001g0285 a0001c0001t0001g0286 |
2 | HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.110+17554A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034880 | |||||||
| chr1:245034928 | G | T | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+17602G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245034928 | |||||||
| chr1:245035041 | T | C | 1 | a0001c0001t0003g0057 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.110+17715T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035041 | |||||||
| chr1:245035092 | G | T | 80 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0008g0288 others(77): Show |
80 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
intron_variant | MODIFIER | c.110+17766G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035092 | |||||||
| chr1:245035186 | CT | C | 125 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(122): Show |
125 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
intron_variant | MODIFIER | c.110+17873delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245035186 | ||||||
| chr1:245035199 | T | TA | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+17876dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245035199 | ||||||
| chr1:245035209 | G | T | 1 | a0001c0002t0002g0173 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.110+17883G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035209 | |||||||
| chr1:245035396 | T | TGA | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+18072_110+1807 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245035396 | ||||||
| chr1:245035449 | G | A | 52 | a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0137 others(49): Show |
52 | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(49): Show |
intron_variant | MODIFIER | c.110+18123G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035449 | |||||||
| chr1:245035610 | T | C | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.110+18284T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035610 | |||||||
| chr1:245035667 | G | GACCAGTC | 80 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0008g0288 others(77): Show |
80 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
intron_variant | MODIFIER | c.110+18346_110+1834 others(11): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245035667 | ||||||
| chr1:245035673 | C | T | 80 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0008g0288 others(77): Show |
80 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
intron_variant | MODIFIER | c.110+18347C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035673 | |||||||
| chr1:245035687 | T | C | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+18361T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035687 | |||||||
| chr1:245035698 | T | C | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+18372T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035698 | |||||||
| chr1:245035798 | C | T | 86 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0185 others(83): Show |
86 | HG00099.hp2 HG00597.hp2 HG00621.hp2 others(83): Show |
intron_variant | MODIFIER | c.110+18472C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035798 | |||||||
| chr1:245035800 | G | A | 1 | a0001c0001t0003g0005 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.110+18474G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035800 | |||||||
| chr1:245035853 | C | T | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.110+18527C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035853 | |||||||
| chr1:245035866 | C | CA | 82 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0002g0197 others(79): Show |
82 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(79): Show |
intron_variant | MODIFIER | c.110+18555dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245035866 | ||||||
| chr1:245035866 | C | CAA | 19 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(16): Show |
20 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(17): Show |
intron_variant | MODIFIER | c.110+18554_110+1855 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245035866 | ||||||
| chr1:245035866 | C | CAAA | 34 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.110+18553_110+1855 others(7): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245035866 | ||||||
| chr1:245035926 | C | A | 2 | a0001c0002t0002g0139 a0001c0002t0002g0196 |
2 | HG00741.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.110+18600C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035926 | |||||||
| chr1:245035934 | C | G | 81 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0209 others(78): Show |
81 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(78): Show |
intron_variant | MODIFIER | c.110+18608C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245035934 | |||||||
| chr1:245036038 | T | G | 2 | a0001c0002t0002g0097 a0001c0002t0002g0099 |
2 | NA18999.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.110+18712T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036038 | |||||||
| chr1:245036060 | C | CT | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+18737dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245036060 | ||||||
| chr1:245036095 | G | C | 1 | a0001c0001t0001g0209 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.110+18769G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036095 | |||||||
| chr1:245036178 | A | G | 2 | a0001c0001t0003g0069 a0001c0001t0003g0071 |
2 | HG00597.hp2 HG02074.hp2 |
intron_variant | MODIFIER | c.110+18852A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036178 | |||||||
| chr1:245036213 | C | T | 1 | a0001c0001t0001g0176 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.110+18887C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036213 | |||||||
| chr1:245036306 | A | G | 1 | a0001c0001t0001g0144 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.110+18980A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036306 | |||||||
| chr1:245036463 | C | A | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.110+19137C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036463 | |||||||
| chr1:245036681 | T | C | 137 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(134): Show |
138 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.110+19355T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036681 | |||||||
| chr1:245036705 | G | A | 1 | a0001c0001t0003g0027 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.110+19379G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036705 | |||||||
| chr1:245036739 | A | G | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.110+19413A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036739 | |||||||
| chr1:245036766 | A | G | 80 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0008g0288 others(77): Show |
80 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
intron_variant | MODIFIER | c.110+19440A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245036766 | |||||||
| chr1:245037107 | A | G | 20 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(17): Show |
21 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.110+19781A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245037107 | |||||||
| chr1:245037394 | A | T | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.110+20068A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245037394 | |||||||
| chr1:245037675 | A | G | 1 | a0001c0001t0005g0136 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.110+20349A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245037675 | |||||||
| chr1:245037697 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.110+20371G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245037697 | |||||||
| chr1:245037732 | C | A | 20 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(17): Show |
21 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.110+20406C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245037732 | |||||||
| chr1:245037980 | T | C | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.110+20654T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245037980 | |||||||
| chr1:245037992 | T | C | 80 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0008g0288 others(77): Show |
80 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
intron_variant | MODIFIER | c.110+20666T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245037992 | |||||||
| chr1:245038007 | G | T | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.110+20681G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038007 | |||||||
| chr1:245038028 | T | C | 1 | a0001c0001t0001g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.110+20702T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038028 | |||||||
| chr1:245038102 | T | C | 1 | a0001c0002t0002g0233 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.110+20776T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038102 | |||||||
| chr1:245038163 | A | C | 1 | a0001c0002t0004g0065 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.110+20837A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038163 | |||||||
| chr1:245038183 | T | G | 14 | a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0145 others(11): Show |
14 | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.110+20857T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038183 | |||||||
| chr1:245038209 | A | G | 264 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(261): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show |
intron_variant | MODIFIER | c.110+20883A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038209 | |||||||
| chr1:245038243 | A | G | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.110+20917A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038243 | |||||||
| chr1:245038250 | C | G | 7 | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0181 others(4): Show |
7 | HG02486.hp2 HG02970.hp2 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.110+20924C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038250 | |||||||
| chr1:245038295 | C | T | 6 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(3): Show |
6 | HG02895.hp1 HG03130.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.110+20969C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038295 | |||||||
| chr1:245038401 | C | T | 1 | a0001c0001t0002g0198 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.111-20985C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038401 | |||||||
| chr1:245038424 | C | T | 111 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(108): Show |
111 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.111-20962C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038424 | |||||||
| chr1:245038465 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0122 |
2 | HG01496.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.111-20921G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038465 | |||||||
| chr1:245038469 | CA | C | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.111-20907delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245038469 | ||||||
| chr1:245038871 | C | T | 36 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(33): Show |
36 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(33): Show |
intron_variant | MODIFIER | c.111-20515C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038871 | |||||||
| chr1:245038872 | A | G | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.111-20514A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245038872 | |||||||
| chr1:245038913 | GATAA | G | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.111-20468_111-2046 others(8): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245038913 | ||||||
| chr1:245039118 | C | T | 80 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0008g0288 others(77): Show |
80 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
intron_variant | MODIFIER | c.111-20268C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039118 | |||||||
| chr1:245039234 | T | C | 1 | a0001c0001t0003g0084 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.111-20152T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039234 | |||||||
| chr1:245039241 | T | C | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.111-20145T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039241 | |||||||
| chr1:245039300 | C | CA | 10 | a0001c0001t0001g0138 a0001c0001t0001g0161 a0001c0001t0001g0162 others(7): Show |
10 | HG01891.hp1 HG02055.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.111-20053dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245039300 | ||||||
| chr1:245039300 | CA | C | 38 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0019 others(35): Show |
38 | HG00099.hp1 HG00280.hp2 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.111-20053delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245039300 | ||||||
| chr1:245039300 | CAA | C | 73 | a0001c0001t0001g0018 a0001c0001t0001g0088 a0001c0001t0001g0089 others(70): Show |
73 | HG00099.hp2 HG00140.hp2 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.111-20054_111-2005 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245039300 | ||||||
| chr1:245039300 | CAAAAA | C | 16 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(13): Show |
16 | HG00621.hp1 HG02027.hp1 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.111-20057_111-2005 others(9): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245039300 | ||||||
| chr1:245039300 | CAAAAAA | C | 52 | a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0143 others(49): Show |
53 | HG00140.hp1 HG00423.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.111-20058_111-2005 others(10): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245039300 | ||||||
| chr1:245039300 | CAAAAAAA | C | 36 | a0001c0001t0001g0119 a0001c0001t0001g0178 a0001c0001t0001g0202 others(33): Show |
36 | HG00280.hp1 HG00642.hp2 HG00735.hp1 others(33): Show |
intron_variant | MODIFIER | c.111-20059_111-2005 others(11): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245039300 | ||||||
| chr1:245039300 | CAAAAAAA others(1): Show |
C | 29 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(26): Show |
29 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(26): Show |
intron_variant | MODIFIER | c.111-20060_111-2005 others(12): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245039300 | ||||||
| chr1:245039306 | A | C | 1 | a0001c0002t0002g0170 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.111-20080A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039306 | |||||||
| chr1:245039351 | A | ATGCCT | 134 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(131): Show |
135 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
intron_variant | MODIFIER | c.111-20035_111-2003 others(9): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039351 | |||||||
| chr1:245039416 | A | G | 127 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(124): Show |
127 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(124): Show |
intron_variant | MODIFIER | c.111-19970A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039416 | |||||||
| chr1:245039425 | T | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0122 |
2 | HG01496.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.111-19961T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039425 | |||||||
| chr1:245039474 | TA | T | 21 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(18): Show |
22 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(19): Show |
intron_variant | MODIFIER | c.111-19897delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245039474 | ||||||
| chr1:245039488 | A | AAGAG | 113 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 others(110): Show |
113 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(110): Show |
intron_variant | MODIFIER | c.111-19897_111-1989 others(8): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245039488 | ||||||
| chr1:245039631 | T | C | 77 | a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 others(74): Show |
77 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(74): Show |
intron_variant | MODIFIER | c.111-19755T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039631 | |||||||
| chr1:245039654 | C | T | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.111-19732C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039654 | |||||||
| chr1:245039779 | G | A | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.111-19607G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039779 | |||||||
| chr1:245039808 | C | G | 137 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(134): Show |
138 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.111-19578C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039808 | |||||||
| chr1:245039838 | C | T | 1 | a0001c0001t0003g0102 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.111-19548C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245039838 | |||||||
| chr1:245040099 | T | C | 137 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(134): Show |
138 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.111-19287T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040099 | |||||||
| chr1:245040146 | T | G | 1 | a0001c0001t0001g0166 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.111-19240T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040146 | |||||||
| chr1:245040286 | G | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-19100G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040286 | |||||||
| chr1:245040455 | A | G | 54 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(51): Show |
55 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(52): Show |
intron_variant | MODIFIER | c.111-18931A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040455 | |||||||
| chr1:245040557 | T | C | 1 | a0001c0001t0003g0042 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.111-18829T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040557 | |||||||
| chr1:245040713 | G | A | 4 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0002t0002g0116 others(1): Show |
4 | NA18522.hp1 NA18906.hp1 NA19077.hp2 others(1): Show |
intron_variant | MODIFIER | c.111-18673G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040713 | |||||||
| chr1:245040721 | C | T | 10 | a0001c0001t0001g0194 a0001c0001t0002g0192 a0001c0001t0002g0193 others(7): Show |
11 | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.111-18665C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040721 | |||||||
| chr1:245040730 | C | A | 100 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(97): Show |
101 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(98): Show |
intron_variant | MODIFIER | c.111-18656C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040730 | |||||||
| chr1:245040747 | G | A | 34 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.111-18639G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040747 | |||||||
| chr1:245040758 | A | G | 100 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(97): Show |
101 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(98): Show |
intron_variant | MODIFIER | c.111-18628A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040758 | |||||||
| chr1:245040798 | G | T | 77 | a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 others(74): Show |
77 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(74): Show |
intron_variant | MODIFIER | c.111-18588G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245040798 | |||||||
| chr1:245041022 | A | G | 2 | a0001c0001t0001g0209 a0001c0001t0001g0238 |
2 | NA18982.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.111-18364A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245041022 | |||||||
| chr1:245041037 | A | G | 23 | a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 others(20): Show |
24 | HG02055.hp2 HG02135.hp1 HG02145.hp2 others(21): Show |
intron_variant | MODIFIER | c.111-18349A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245041037 | |||||||
| chr1:245041244 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.111-18142C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245041244 | |||||||
| chr1:245041527 | G | A | 77 | a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 others(74): Show |
77 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(74): Show |
intron_variant | MODIFIER | c.111-17859G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245041527 | |||||||
| chr1:245041814 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-17572G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245041814 | |||||||
| chr1:245041859 | C | G | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.111-17527C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245041859 | |||||||
| chr1:245041867 | A | T | 262 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(259): Show |
262 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
intron_variant | MODIFIER | c.111-17519A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245041867 | |||||||
| chr1:245041872 | A | C | 1 | a0001c0001t0001g0138 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.111-17514A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245041872 | |||||||
| chr1:245041977 | T | C | 6 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 others(3): Show |
6 | HG02135.hp1 HG02258.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.111-17409T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245041977 | |||||||
| chr1:245042177 | G | A | 5 | a0001c0001t0001g0277 a0001c0002t0002g0273 a0001c0002t0002g0274 others(2): Show |
5 | HG01433.hp1 HG02055.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.111-17209G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042177 | |||||||
| chr1:245042199 | C | T | 1 | a0001c0001t0001g0113 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.111-17187C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042199 | |||||||
| chr1:245042246 | G | A | 7 | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0181 others(4): Show |
7 | HG02486.hp2 HG02970.hp2 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.111-17140G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042246 | |||||||
| chr1:245042275 | G | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-17111G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042275 | |||||||
| chr1:245042375 | T | A | 127 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(124): Show |
127 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(124): Show |
intron_variant | MODIFIER | c.111-17011T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042375 | |||||||
| chr1:245042389 | A | G | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-16997A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042389 | |||||||
| chr1:245042390 | C | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-16996C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042390 | |||||||
| chr1:245042455 | G | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-16931G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042455 | |||||||
| chr1:245042466 | C | T | 1 | a0001c0001t0001g0103 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.111-16920C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042466 | |||||||
| chr1:245042526 | C | A | 1 | a0001c0002t0002g0140 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.111-16860C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042526 | |||||||
| chr1:245042539 | C | T | 1 | a0001c0001t0003g0036 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.111-16847C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042539 | |||||||
| chr1:245042574 | C | G | 3 | a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 |
3 | HG03130.hp1 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.111-16812C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042574 | |||||||
| chr1:245042574 | C | T | 111 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(108): Show |
111 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.111-16812C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042574 | |||||||
| chr1:245042575 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-16811G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042575 | |||||||
| chr1:245042588 | C | T | 126 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(123): Show |
126 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.111-16798C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042588 | |||||||
| chr1:245042759 | A | G | 7 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0143 others(4): Show |
7 | HG02723.hp1 HG03130.hp1 NA18522.hp1 others(4): Show |
intron_variant | MODIFIER | c.111-16627A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042759 | |||||||
| chr1:245042865 | T | G | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-16521T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042865 | |||||||
| chr1:245042924 | T | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.111-16462T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245042924 | |||||||
| chr1:245043157 | T | C | 138 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(135): Show |
138 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
intron_variant | MODIFIER | c.111-16229T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043157 | |||||||
| chr1:245043158 | G | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-16228G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043158 | |||||||
| chr1:245043159 | C | T | 2 | a0001c0001t0001g0125 a0001c0001t0001g0138 |
2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.111-16227C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043159 | |||||||
| chr1:245043258 | T | C | 12 | a0001c0001t0001g0095 a0001c0001t0001g0119 a0001c0001t0001g0123 others(9): Show |
12 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.111-16128T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043258 | |||||||
| chr1:245043437 | G | GA | 6 | a0001c0001t0001g0119 a0001c0001t0001g0279 a0001c0001t0001g0280 others(3): Show |
6 | HG01496.hp2 HG02257.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.111-15938dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245043437 | ||||||
| chr1:245043555 | G | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-15831G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043555 | |||||||
| chr1:245043694 | C | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-15692C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043694 | |||||||
| chr1:245043714 | C | T | 5 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(2): Show |
5 | HG01891.hp1 HG02572.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.111-15672C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043714 | |||||||
| chr1:245043730 | C | G | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.111-15656C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043730 | |||||||
| chr1:245043801 | C | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-15585C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043801 | |||||||
| chr1:245043803 | G | A | 1 | a0001c0001t0001g0281 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.111-15583G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043803 | |||||||
| chr1:245043811 | T | G | 1 | a0001c0001t0001g0242 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.111-15575T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043811 | |||||||
| chr1:245043902 | C | CTT | 138 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(135): Show |
138 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
intron_variant | MODIFIER | c.111-15484_111-1548 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245043902 | |||||||
| chr1:245044093 | G | A | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.111-15293G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044093 | |||||||
| chr1:245044131 | T | G | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-15255T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044131 | |||||||
| chr1:245044135 | T | C | 138 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(135): Show |
138 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
intron_variant | MODIFIER | c.111-15251T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044135 | |||||||
| chr1:245044256 | T | C | 1 | a0001c0001t0001g0287 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.111-15130T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044256 | |||||||
| chr1:245044483 | TTTTTA | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-14891_111-1488 others(9): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245044483 | ||||||
| chr1:245044498 | A | G | 3 | a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0009g0232 |
3 | NA18961.hp2 NA18983.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.111-14888A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044498 | |||||||
| chr1:245044540 | G | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-14846G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044540 | |||||||
| chr1:245044550 | G | GATTT | 31 | a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0118 others(28): Show |
31 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
intron_variant | MODIFIER | c.111-14802_111-1479 others(8): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245044550 | ||||||
| chr1:245044550 | G | GATTTATT others(1): Show |
3 | a0001c0001t0001g0202 a0001c0001t0001g0236 a0001c0001t0010g0237 |
3 | HG02015.hp1 NA18747.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.111-14806_111-1479 others(12): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245044550 | ||||||
| chr1:245044550 | GATTT | G | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0209 |
3 | NA18522.hp1 NA18906.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.111-14802_111-1479 others(8): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245044550 | ||||||
| chr1:245044550 | GATTTATT others(1): Show |
G | 112 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0122 others(109): Show |
112 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(109): Show |
intron_variant | MODIFIER | c.111-14806_111-1479 others(12): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245044550 | ||||||
| chr1:245044609 | G | A | 9 | a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0152 others(6): Show |
9 | HG00735.hp2 HG00741.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.111-14777G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044609 | |||||||
| chr1:245044609 | G | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-14777G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044609 | |||||||
| chr1:245044652 | T | C | 225 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(222): Show |
225 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show |
intron_variant | MODIFIER | c.111-14734T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044652 | |||||||
| chr1:245044711 | C | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-14675C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245044711 | |||||||
| chr1:245044835 | A | AC | 14 | a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0239 others(11): Show |
14 | HG00735.hp2 HG00741.hp1 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.111-14546dupC | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245044835 | ||||||
| chr1:245044946 | A | AT | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-14437dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245044946 | ||||||
| chr1:245045199 | A | T | 1 | a0001c0001t0001g0203 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.111-14187A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045199 | |||||||
| chr1:245045202 | T | G | 268 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(265): Show |
268 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
intron_variant | MODIFIER | c.111-14184T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045202 | |||||||
| chr1:245045257 | G | C | 1 | a0001c0001t0003g0015 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.111-14129G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045257 | |||||||
| chr1:245045258 | C | G | 1 | a0001c0001t0003g0015 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.111-14128C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045258 | |||||||
| chr1:245045301 | T | G | 1 | a0001c0001t0001g0203 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.111-14085T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045301 | |||||||
| chr1:245045317 | G | A | 69 | a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0001g0277 others(66): Show |
69 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(66): Show |
intron_variant | MODIFIER | c.111-14069G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045317 | |||||||
| chr1:245045330 | G | T | 3 | a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0172 |
3 | HG00639.hp1 HG01516.hp2 HG01978.hp2 |
intron_variant | MODIFIER | c.111-14056G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045330 | |||||||
| chr1:245045381 | C | CAGCAA | 17 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(14): Show |
17 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(14): Show |
intron_variant | MODIFIER | c.111-13992_111-1398 others(9): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245045381 | ||||||
| chr1:245045539 | T | C | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.111-13847T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045539 | |||||||
| chr1:245045547 | T | G | 27 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(24): Show |
27 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.111-13839T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045547 | |||||||
| chr1:245045551 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.111-13835C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045551 | |||||||
| chr1:245045675 | G | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-13711G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045675 | |||||||
| chr1:245045693 | G | C | 3 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 |
3 | HG02970.hp2 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.111-13693G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045693 | |||||||
| chr1:245045743 | T | C | 147 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(144): Show |
147 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.111-13643T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045743 | |||||||
| chr1:245045744 | AGTCTGAC others(22): Show |
A | 85 | a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0001g0277 others(82): Show |
85 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.111-13619_111-1359 others(33): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245045744 | ||||||
| chr1:245045773 | G | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-13613G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045773 | |||||||
| chr1:245045782 | G | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-13604G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045782 | |||||||
| chr1:245045786 | G | A | 83 | a0001c0001t0001g0122 a0001c0001t0001g0277 a0001c0001t0008g0288 others(80): Show |
83 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(80): Show |
intron_variant | MODIFIER | c.111-13600G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045786 | |||||||
| chr1:245045796 | A | G | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-13590A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045796 | |||||||
| chr1:245045806 | G | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-13580G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045806 | |||||||
| chr1:245045832 | A | G | 136 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(133): Show |
136 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
intron_variant | MODIFIER | c.111-13554A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045832 | |||||||
| chr1:245045843 | C | T | 4 | a0001c0001t0001g0189 a0001c0001t0003g0011 a0001c0001t0003g0025 others(1): Show |
4 | HG01109.hp1 HG01358.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.111-13543C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045843 | |||||||
| chr1:245045983 | G | C | 4 | a0001c0001t0001g0119 a0001c0001t0005g0136 a0001c0001t0005g0190 others(1): Show |
4 | HG01496.hp2 HG02257.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.111-13403G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245045983 | |||||||
| chr1:245046101 | T | G | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-13285T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046101 | |||||||
| chr1:245046127 | ATAT | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-13255_111-1325 others(7): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245046127 | ||||||
| chr1:245046219 | C | G | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.111-13167C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046219 | |||||||
| chr1:245046256 | A | G | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-13130A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046256 | |||||||
| chr1:245046389 | C | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.111-12997C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046389 | |||||||
| chr1:245046391 | C | CACA | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-12995_111-1299 others(7): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046391 | |||||||
| chr1:245046392 | T | G | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-12994T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046392 | |||||||
| chr1:245046453 | C | T | 1 | a0001c0002t0002g0220 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.111-12933C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046453 | |||||||
| chr1:245046654 | T | C | 232 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(229): Show |
232 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
intron_variant | MODIFIER | c.111-12732T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046654 | |||||||
| chr1:245046690 | TC | T | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.111-12695delC | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046690 | |||||||
| chr1:245046713 | T | G | 13 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 others(10): Show |
13 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.111-12673T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046713 | |||||||
| chr1:245046778 | G | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-12608G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046778 | |||||||
| chr1:245046779 | C | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-12607C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046779 | |||||||
| chr1:245046877 | A | G | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-12509A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046877 | |||||||
| chr1:245046923 | T | C | 1 | a0001c0001t0003g0028 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.111-12463T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046923 | |||||||
| chr1:245046945 | T | C | 1 | a0001c0001t0001g0188 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.111-12441T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245046945 | |||||||
| chr1:245047063 | A | G | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-12323A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047063 | |||||||
| chr1:245047076 | C | A | 1 | a0001c0001t0003g0042 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.111-12310C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047076 | |||||||
| chr1:245047088 | T | G | 82 | a0001c0001t0001g0277 a0001c0002t0002g0085 a0001c0002t0002g0086 others(79): Show |
82 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(79): Show |
intron_variant | MODIFIER | c.111-12298T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047088 | |||||||
| chr1:245047174 | G | A | 1 | a0002c0003t0001g0252 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.111-12212G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047174 | |||||||
| chr1:245047259 | T | C | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-12127T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047259 | |||||||
| chr1:245047270 | A | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.111-12116A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047270 | |||||||
| chr1:245047272 | A | G | 1 | a0001c0001t0001g0265 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.111-12114A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047272 | |||||||
| chr1:245047291 | G | A | 1 | a0001c0002t0002g0246 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.111-12095G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047291 | |||||||
| chr1:245047360 | C | T | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-12026C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047360 | |||||||
| chr1:245047496 | G | A | 84 | a0001c0001t0001g0122 a0001c0001t0001g0277 a0001c0001t0008g0288 others(81): Show |
84 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(81): Show |
intron_variant | MODIFIER | c.111-11890G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047496 | |||||||
| chr1:245047512 | G | T | 8 | a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0078 others(5): Show |
8 | NA18962.hp2 NA18970.hp1 NA18984.hp1 others(5): Show |
intron_variant | MODIFIER | c.111-11874G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047512 | |||||||
| chr1:245047517 | T | C | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-11869T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047517 | |||||||
| chr1:245047550 | G | A | 111 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(108): Show |
111 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.111-11836G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047550 | |||||||
| chr1:245047605 | A | G | 85 | a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0001g0277 others(82): Show |
85 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.111-11781A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047605 | |||||||
| chr1:245047635 | C | CA | 89 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(86): Show |
89 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(86): Show |
intron_variant | MODIFIER | c.111-11736dupA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245047635 | ||||||
| chr1:245047635 | C | CAA | 118 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(115): Show |
118 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(115): Show |
intron_variant | MODIFIER | c.111-11737_111-1173 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245047635 | ||||||
| chr1:245047635 | C | CAAA | 18 | a0001c0001t0001g0023 a0001c0001t0001g0106 a0001c0001t0001g0134 others(15): Show |
18 | HG00597.hp2 HG01109.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.111-11738_111-1173 others(7): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245047635 | ||||||
| chr1:245047651 | C | T | 21 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(18): Show |
21 | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(18): Show |
intron_variant | MODIFIER | c.111-11735C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047651 | |||||||
| chr1:245047652 | G | A | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-11734G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047652 | |||||||
| chr1:245047679 | A | G | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.111-11707A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047679 | |||||||
| chr1:245047692 | G | A | 27 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(24): Show |
27 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.111-11694G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047692 | |||||||
| chr1:245047710 | A | C | 1 | a0001c0001t0003g0057 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.111-11676A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047710 | |||||||
| chr1:245047722 | G | A | 232 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(229): Show |
232 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
intron_variant | MODIFIER | c.111-11664G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047722 | |||||||
| chr1:245047779 | T | C | 11 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(8): Show |
11 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.111-11607T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047779 | |||||||
| chr1:245047800 | C | T | 4 | a0001c0001t0001g0119 a0001c0001t0005g0136 a0001c0001t0005g0190 others(1): Show |
4 | HG01496.hp2 HG02257.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.111-11586C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047800 | |||||||
| chr1:245047832 | T | C | 4 | a0001c0001t0001g0119 a0001c0001t0005g0136 a0001c0001t0005g0190 others(1): Show |
4 | HG01496.hp2 HG02257.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.111-11554T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047832 | |||||||
| chr1:245047848 | G | A | 7 | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0181 others(4): Show |
7 | HG02486.hp2 HG02970.hp2 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.111-11538G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047848 | |||||||
| chr1:245047861 | C | CTG | 4 | a0001c0001t0001g0119 a0001c0001t0005g0136 a0001c0001t0005g0190 others(1): Show |
4 | HG01496.hp2 HG02257.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.111-11524_111-1152 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245047861 | ||||||
| chr1:245047906 | C | T | 89 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0143 others(86): Show |
89 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(86): Show |
intron_variant | MODIFIER | c.111-11480C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047906 | |||||||
| chr1:245047962 | T | G | 96 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(93): Show |
96 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(93): Show |
intron_variant | MODIFIER | c.111-11424T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245047962 | |||||||
| chr1:245047974 | CA | C | 139 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
intron_variant | MODIFIER | c.111-11393delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245047974 | ||||||
| chr1:245047974 | CAA | C | 80 | a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0277 others(77): Show |
80 | HG00280.hp1 HG00423.hp2 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.111-11394_111-1139 others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245047974 | ||||||
| chr1:245048087 | G | C | 21 | a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0145 others(18): Show |
21 | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(18): Show |
intron_variant | MODIFIER | c.111-11299G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048087 | |||||||
| chr1:245048099 | G | A | 1 | a0001c0001t0001g0187 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.111-11287G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048099 | |||||||
| chr1:245048191 | C | G | 138 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(135): Show |
138 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
intron_variant | MODIFIER | c.111-11195C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048191 | |||||||
| chr1:245048379 | G | C | 136 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(133): Show |
136 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
intron_variant | MODIFIER | c.111-11007G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048379 | |||||||
| chr1:245048430 | T | C | 17 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(14): Show |
17 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(14): Show |
intron_variant | MODIFIER | c.111-10956T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048430 | |||||||
| chr1:245048449 | A | T | 1 | a0001c0001t0001g0093 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.111-10937A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048449 | |||||||
| chr1:245048525 | A | T | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.111-10861A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048525 | |||||||
| chr1:245048628 | T | C | 98 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 others(95): Show |
98 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.111-10758T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048628 | |||||||
| chr1:245048671 | C | G | 140 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(137): Show |
140 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.111-10715C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048671 | |||||||
| chr1:245048675 | C | T | 2 | a0001c0001t0003g0028 a0001c0001t0003g0039 |
2 | NA18944.hp2 NA18978.hp1 |
intron_variant | MODIFIER | c.111-10711C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048675 | |||||||
| chr1:245048676 | G | A | 2 | a0001c0001t0005g0136 a0001c0001t0005g0190 |
2 | HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.111-10710G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048676 | |||||||
| chr1:245048715 | T | C | 151 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(148): Show |
151 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(148): Show |
intron_variant | MODIFIER | c.111-10671T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048715 | |||||||
| chr1:245048954 | C | T | 4 | a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 others(1): Show |
4 | HG03486.hp2 HG03540.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.111-10432C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048954 | |||||||
| chr1:245048986 | CT | C | 227 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(224): Show |
227 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
intron_variant | MODIFIER | c.111-10383delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245048986 | ||||||
| chr1:245048998 | T | G | 134 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(131): Show |
134 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.111-10388T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245048998 | |||||||
| chr1:245049112 | G | A | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.111-10274G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049112 | |||||||
| chr1:245049236 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-10150C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049236 | |||||||
| chr1:245049237 | G | A | 2 | a0001c0002t0002g0216 a0001c0002t0002g0226 |
2 | NA18989.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.111-10149G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049237 | |||||||
| chr1:245049265 | A | G | 279 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(276): Show |
280 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
intron_variant | MODIFIER | c.111-10121A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049265 | |||||||
| chr1:245049300 | T | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-10086T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049300 | |||||||
| chr1:245049327 | C | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-10059C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049327 | |||||||
| chr1:245049528 | A | G | 1 | a0001c0001t0001g0242 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.111-9858A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049528 | |||||||
| chr1:245049543 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-9843G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049543 | |||||||
| chr1:245049544 | T | C | 1 | a0001c0001t0003g0032 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.111-9842T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049544 | |||||||
| chr1:245049584 | A | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-9802A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049584 | |||||||
| chr1:245049612 | T | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-9774T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049612 | |||||||
| chr1:245049743 | A | G | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.111-9643A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049743 | |||||||
| chr1:245049748 | T | C | 82 | a0001c0001t0001g0277 a0001c0002t0002g0085 a0001c0002t0002g0086 others(79): Show |
82 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(79): Show |
intron_variant | MODIFIER | c.111-9638T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049748 | |||||||
| chr1:245049779 | A | G | 82 | a0001c0001t0001g0277 a0001c0002t0002g0085 a0001c0002t0002g0086 others(79): Show |
82 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(79): Show |
intron_variant | MODIFIER | c.111-9607A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049779 | |||||||
| chr1:245049868 | G | A | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.111-9518G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245049868 | |||||||
| chr1:245050091 | G | A | 2 | a0001c0001t0003g0070 a0001c0001t0003g0075 |
2 | NA18941.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.111-9295G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050091 | |||||||
| chr1:245050262 | C | T | 1 | a0001c0001t0001g0164 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.111-9124C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050262 | |||||||
| chr1:245050303 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-9083C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050303 | |||||||
| chr1:245050389 | C | T | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.111-8997C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050389 | |||||||
| chr1:245050419 | C | T | 1 | a0001c0001t0002g0192 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.111-8967C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050419 | |||||||
| chr1:245050450 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-8936C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050450 | |||||||
| chr1:245050467 | T | G | 82 | a0001c0001t0001g0277 a0001c0002t0002g0085 a0001c0002t0002g0086 others(79): Show |
82 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(79): Show |
intron_variant | MODIFIER | c.111-8919T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050467 | |||||||
| chr1:245050578 | C | T | 82 | a0001c0001t0001g0277 a0001c0002t0002g0085 a0001c0002t0002g0086 others(79): Show |
82 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(79): Show |
intron_variant | MODIFIER | c.111-8808C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050578 | |||||||
| chr1:245050614 | A | G | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-8772A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050614 | |||||||
| chr1:245050718 | A | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.111-8668A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050718 | |||||||
| chr1:245050732 | A | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.111-8654A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050732 | |||||||
| chr1:245050765 | T | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-8621T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245050765 | |||||||
| chr1:245051079 | A | G | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.111-8307A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051079 | |||||||
| chr1:245051209 | G | A | 19 | a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0145 others(16): Show |
19 | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(16): Show |
intron_variant | MODIFIER | c.111-8177G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051209 | |||||||
| chr1:245051230 | GA | G | 6 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(3): Show |
6 | HG01109.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.111-8144delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245051230 | ||||||
| chr1:245051271 | A | C | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.111-8115A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051271 | |||||||
| chr1:245051284 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-8102C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051284 | |||||||
| chr1:245051285 | G | A | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.111-8101G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051285 | |||||||
| chr1:245051345 | C | T | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.111-8041C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051345 | |||||||
| chr1:245051364 | G | A | 1 | a0001c0001t0001g0004 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.111-8022G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051364 | |||||||
| chr1:245051493 | G | T | 134 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(131): Show |
134 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.111-7893G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051493 | |||||||
| chr1:245051494 | A | C | 134 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(131): Show |
134 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.111-7892A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051494 | |||||||
| chr1:245051621 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-7765G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051621 | |||||||
| chr1:245051646 | A | C | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.111-7740A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051646 | |||||||
| chr1:245051768 | A | C | 1 | a0001c0001t0001g0103 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.111-7618A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051768 | |||||||
| chr1:245051896 | G | A | 4 | a0001c0001t0001g0119 a0001c0001t0005g0136 a0001c0001t0005g0190 others(1): Show |
4 | HG01496.hp2 HG02257.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.111-7490G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051896 | |||||||
| chr1:245051905 | G | T | 1 | a0001c0001t0001g0106 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.111-7481G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051905 | |||||||
| chr1:245051914 | A | AT | 119 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(116): Show |
119 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.111-7471dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245051914 | ||||||
| chr1:245051938 | CA | C | 15 | a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0145 others(12): Show |
15 | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.111-7445delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245051938 | ||||||
| chr1:245051975 | A | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-7411A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051975 | |||||||
| chr1:245051984 | C | T | 1 | a0001c0001t0002g0192 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.111-7402C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245051984 | |||||||
| chr1:245052032 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-7354G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245052032 | |||||||
| chr1:245052267 | A | G | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-7119A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245052267 | |||||||
| chr1:245052426 | T | C | 15 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0131 others(12): Show |
15 | HG00140.hp2 HG00280.hp2 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.111-6960T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245052426 | |||||||
| chr1:245052581 | T | C | 125 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(122): Show |
125 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(122): Show |
intron_variant | MODIFIER | c.111-6805T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245052581 | |||||||
| chr1:245052587 | G | T | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.111-6799G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245052587 | |||||||
| chr1:245052823 | C | T | 118 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(115): Show |
118 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.111-6563C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245052823 | |||||||
| chr1:245052851 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-6535C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245052851 | |||||||
| chr1:245053079 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-6307C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245053079 | |||||||
| chr1:245053110 | G | A | 1 | a0001c0001t0001g0280 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.111-6276G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245053110 | |||||||
| chr1:245053220 | A | G | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.111-6166A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245053220 | |||||||
| chr1:245053613 | G | T | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.111-5773G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245053613 | |||||||
| chr1:245053669 | C | G | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-5717C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245053669 | |||||||
| chr1:245053801 | G | T | 2 | a0001c0001t0003g0078 a0001c0001t0003g0079 |
2 | NA18962.hp2 NA18984.hp1 |
intron_variant | MODIFIER | c.111-5585G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245053801 | |||||||
| chr1:245053936 | C | T | 16 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(13): Show |
16 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(13): Show |
intron_variant | MODIFIER | c.111-5450C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245053936 | |||||||
| chr1:245054000 | C | T | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.111-5386C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245054000 | |||||||
| chr1:245054117 | A | G | 4 | a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 others(1): Show |
4 | HG01433.hp1 HG02055.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.111-5269A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245054117 | |||||||
| chr1:245054228 | T | G | 238 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(235): Show |
238 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
intron_variant | MODIFIER | c.111-5158T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245054228 | |||||||
| chr1:245054391 | A | G | 7 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show |
7 | HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.111-4995A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245054391 | |||||||
| chr1:245054703 | T | G | 5 | a0001c0002t0002g0213 a0001c0002t0002g0217 a0001c0002t0002g0222 others(2): Show |
5 | NA18946.hp2 NA18952.hp2 NA19005.hp1 others(2): Show |
intron_variant | MODIFIER | c.111-4683T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245054703 | |||||||
| chr1:245054806 | G | A | 2 | a0001c0001t0001g0194 a0001c0001t0006g0001 |
3 | HG02630.hp2 HG03516.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.111-4580G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245054806 | |||||||
| chr1:245055061 | G | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-4325G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055061 | |||||||
| chr1:245055164 | G | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.111-4222G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055164 | |||||||
| chr1:245055207 | G | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-4179G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055207 | |||||||
| chr1:245055495 | A | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-3891A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055495 | |||||||
| chr1:245055612 | C | T | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.111-3774C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055612 | |||||||
| chr1:245055614 | C | T | 16 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0053 others(13): Show |
16 | HG00099.hp1 HG00423.hp1 HG00609.hp2 others(13): Show |
intron_variant | MODIFIER | c.111-3772C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055614 | |||||||
| chr1:245055615 | G | A | 1 | a0001c0001t0003g0051 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.111-3771G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055615 | |||||||
| chr1:245055630 | CCTT | C | 3 | a0001c0002t0004g0033 a0001c0002t0004g0054 a0001c0002t0004g0063 |
3 | HG02015.hp2 HG02129.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.111-3753_111-3751d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245055630 | ||||||
| chr1:245055752 | G | A | 94 | a0001c0001t0001g0277 a0001c0001t0002g0192 a0001c0001t0002g0193 others(91): Show |
94 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(91): Show |
intron_variant | MODIFIER | c.111-3634G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055752 | |||||||
| chr1:245055786 | G | C | 239 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(236): Show |
239 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
intron_variant | MODIFIER | c.111-3600G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055786 | |||||||
| chr1:245055797 | A | G | 1 | a0001c0002t0002g0261 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.111-3589A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055797 | |||||||
| chr1:245055901 | G | A | 112 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(109): Show |
112 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.111-3485G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245055901 | |||||||
| chr1:245056008 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-3378G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056008 | |||||||
| chr1:245056335 | G | A | 1 | a0001c0001t0001g0123 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.111-3051G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056335 | |||||||
| chr1:245056364 | C | T | 5 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(2): Show |
5 | HG01891.hp1 HG02572.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.111-3022C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056364 | |||||||
| chr1:245056469 | A | G | 3 | a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0060 |
3 | HG00738.hp1 HG01099.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.111-2917A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056469 | |||||||
| chr1:245056500 | T | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-2886T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056500 | |||||||
| chr1:245056578 | C | G | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-2808C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056578 | |||||||
| chr1:245056630 | G | A | 18 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(15): Show |
18 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.111-2756G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056630 | |||||||
| chr1:245056659 | C | T | 1 | a0001c0001t0001g0277 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.111-2727C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056659 | |||||||
| chr1:245056663 | T | C | 242 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(239): Show |
242 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show |
intron_variant | MODIFIER | c.111-2723T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056663 | |||||||
| chr1:245056861 | C | T | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.111-2525C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245056861 | |||||||
| chr1:245056935 | C | CAAAAAAA | 105 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(102): Show |
105 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(102): Show |
intron_variant | MODIFIER | c.111-2446_111-2440d others(9): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245056935 | ||||||
| chr1:245056935 | C | CAAAAAAA others(1): Show |
18 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 others(15): Show |
18 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.111-2447_111-2440d others(10): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245056935 | ||||||
| chr1:245056935 | C | CAAAAAAA others(2): Show |
104 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(101): Show |
104 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.111-2448_111-2440d others(11): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245056935 | ||||||
| chr1:245056935 | C | CAAAAAAA others(3): Show |
10 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(7): Show |
10 | HG01109.hp2 HG02027.hp2 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.111-2449_111-2440d others(12): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245056935 | ||||||
| chr1:245057095 | G | A | 3 | a0001c0001t0005g0136 a0001c0001t0005g0190 a0001c0001t0005g0191 |
3 | HG02257.hp1 HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.111-2291G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245057095 | |||||||
| chr1:245057137 | A | G | 12 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(9): Show |
12 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.111-2249A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245057137 | |||||||
| chr1:245057199 | T | C | 1 | a0001c0002t0002g0261 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.111-2187T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245057199 | |||||||
| chr1:245057255 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-2131G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245057255 | |||||||
| chr1:245057339 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.111-2047C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245057339 | |||||||
| chr1:245057394 | C | T | 1 | a0001c0002t0002g0217 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.111-1992C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245057394 | |||||||
| chr1:245057639 | C | CT | 130 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0120 others(127): Show |
130 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.111-1734dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245057639 | ||||||
| chr1:245057814 | T | G | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.111-1572T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245057814 | |||||||
| chr1:245058053 | T | C | 1 | a0001c0001t0003g0102 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.111-1333T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245058053 | |||||||
| chr1:245058153 | A | G | 2 | a0001c0001t0001g0236 a0001c0001t0001g0239 |
2 | NA18747.hp2 NA19072.hp2 |
intron_variant | MODIFIER | c.111-1233A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245058153 | |||||||
| chr1:245058283 | GA | G | 5 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 others(2): Show |
5 | HG02055.hp2 HG02145.hp2 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.111-1095delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | 245058283 | ||||||
| chr1:245058661 | C | G | 1 | a0001c0002t0002g0155 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.111-725C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245058661 | |||||||
| chr1:245058699 | A | G | 5 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(2): Show |
5 | HG01891.hp1 HG02572.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.111-687A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245058699 | |||||||
| chr1:245058774 | G | A | 3 | a0001c0001t0003g0029 a0001c0001t0003g0043 a0001c0001t0003g0056 |
3 | NA18949.hp1 NA18998.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.111-612G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245058774 | |||||||
| chr1:245058810 | T | C | 3 | a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0062 |
3 | HG02074.hp1 NA18952.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.111-576T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245058810 | |||||||
| chr1:245058949 | C | G | 12 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(9): Show |
12 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.111-437C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245058949 | |||||||
| chr1:245058961 | T | G | 1 | a0001c0001t0001g0103 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.111-425T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245058961 | |||||||
| chr1:245059024 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.111-362C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245059024 | |||||||
| chr1:245059144 | C | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.111-242C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245059144 | |||||||
| chr1:245059205 | A | T | 94 | a0001c0001t0001g0277 a0001c0001t0002g0192 a0001c0001t0002g0193 others(91): Show |
94 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(91): Show |
intron_variant | MODIFIER | c.111-181A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245059205 | |||||||
| chr1:245059216 | G | A | 94 | a0001c0001t0001g0277 a0001c0001t0002g0192 a0001c0001t0002g0193 others(91): Show |
94 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(91): Show |
intron_variant | MODIFIER | c.111-170G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245059216 | |||||||
| chr1:245059317 | A | G | 1 | a0001c0002t0002g0151 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.111-69A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245059317 | |||||||
| chr1:245059332 | C | G | 241 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(238): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
intron_variant | MODIFIER | c.111-54C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | 245059332 | |||||||
| chr1:245059537 | G | T | 279 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(276): Show |
280 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
intron_variant | MODIFIER | c.183+79G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245059537 | |||||||
| chr1:245059762 | G | A | 111 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(108): Show |
111 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(108): Show |
intron_variant | MODIFIER | c.183+304G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245059762 | |||||||
| chr1:245059953 | C | G | 3 | a0001c0001t0005g0136 a0001c0001t0005g0190 a0001c0001t0005g0191 |
3 | HG02257.hp1 HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.183+495C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245059953 | |||||||
| chr1:245059960 | C | A | 239 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(236): Show |
239 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
intron_variant | MODIFIER | c.183+502C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245059960 | |||||||
| chr1:245060044 | G | T | 4 | a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0148 others(1): Show |
4 | HG00280.hp1 HG02109.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.183+586G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245060044 | |||||||
| chr1:245060306 | G | T | 2 | a0001c0001t0001g0127 a0001c0001t0001g0135 |
2 | HG00140.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.183+848G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245060306 | |||||||
| chr1:245060548 | G | A | 1 | a0001c0001t0007g0243 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.183+1090G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245060548 | |||||||
| chr1:245060589 | TA | T | 28 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0122 others(25): Show |
28 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.183+1138delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245060589 | ||||||
| chr1:245060665 | A | C | 107 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(104): Show |
107 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(104): Show |
intron_variant | MODIFIER | c.183+1207A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245060665 | |||||||
| chr1:245060667 | G | A | 1 | a0001c0001t0003g0020 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.183+1209G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245060667 | |||||||
| chr1:245060693 | C | T | 5 | a0001c0002t0002g0213 a0001c0002t0002g0217 a0001c0002t0002g0222 others(2): Show |
5 | NA18946.hp2 NA18952.hp2 NA19005.hp1 others(2): Show |
intron_variant | MODIFIER | c.183+1235C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245060693 | |||||||
| chr1:245060909 | C | T | 1 | a0001c0001t0001g0104 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.183+1451C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245060909 | |||||||
| chr1:245061003 | G | A | 27 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(24): Show |
27 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.183+1545G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245061003 | |||||||
| chr1:245061033 | GA | G | 95 | a0001c0001t0001g0143 a0001c0001t0001g0277 a0001c0001t0002g0192 others(92): Show |
95 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(92): Show |
intron_variant | MODIFIER | c.183+1580delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245061033 | ||||||
| chr1:245061062 | G | T | 8 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 others(5): Show |
8 | HG02486.hp2 HG02723.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.183+1604G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245061062 | |||||||
| chr1:245061113 | G | A | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.183+1655G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245061113 | |||||||
| chr1:245061311 | G | T | 5 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(2): Show |
5 | HG01261.hp1 HG02258.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.183+1853G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245061311 | |||||||
| chr1:245061354 | C | G | 112 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(109): Show |
112 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.183+1896C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245061354 | |||||||
| chr1:245061449 | T | C | 8 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(5): Show |
8 | HG01109.hp2 HG02135.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.183+1991T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245061449 | |||||||
| chr1:245061893 | G | A | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.183+2435G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245061893 | |||||||
| chr1:245061915 | G | A | 12 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(9): Show |
12 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.183+2457G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245061915 | |||||||
| chr1:245062182 | A | G | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.183+2724A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062182 | |||||||
| chr1:245062184 | C | A | 19 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(16): Show |
19 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.183+2726C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062184 | |||||||
| chr1:245062197 | A | G | 3 | a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 |
3 | HG03130.hp1 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.183+2739A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062197 | |||||||
| chr1:245062303 | C | T | 104 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(101): Show |
104 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.183+2845C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062303 | |||||||
| chr1:245062336 | C | A | 1 | a0001c0002t0004g0063 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.183+2878C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062336 | |||||||
| chr1:245062365 | G | T | 9 | a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0152 others(6): Show |
9 | HG00735.hp2 HG00741.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+2907G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062365 | |||||||
| chr1:245062416 | C | T | 1 | a0001c0001t0001g0240 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.183+2958C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062416 | |||||||
| chr1:245062481 | G | A | 1 | a0001c0002t0002g0167 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.183+3023G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062481 | |||||||
| chr1:245062499 | G | T | 1 | a0001c0001t0001g0279 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.183+3041G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062499 | |||||||
| chr1:245062523 | G | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.183+3065G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062523 | |||||||
| chr1:245062690 | T | C | 122 | a0001c0001t0001g0143 a0001c0001t0001g0201 a0001c0001t0001g0202 others(119): Show |
122 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(119): Show |
intron_variant | MODIFIER | c.183+3232T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245062690 | |||||||
| chr1:245063151 | G | T | 31 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0122 others(28): Show |
31 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(28): Show |
intron_variant | MODIFIER | c.183+3693G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063151 | |||||||
| chr1:245063203 | T | C | 2 | a0001c0001t0005g0136 a0001c0001t0005g0190 |
2 | HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.183+3745T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063203 | |||||||
| chr1:245063264 | C | T | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.183+3806C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063264 | |||||||
| chr1:245063283 | C | T | 18 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(15): Show |
18 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.183+3825C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063283 | |||||||
| chr1:245063339 | A | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.183+3881A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063339 | |||||||
| chr1:245063395 | A | G | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.183+3937A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063395 | |||||||
| chr1:245063395 | A | T | 18 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(15): Show |
18 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.183+3937A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063395 | |||||||
| chr1:245063765 | G | A | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.183+4307G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063765 | |||||||
| chr1:245063790 | C | T | 89 | a0001c0001t0001g0277 a0001c0002t0002g0085 a0001c0002t0002g0086 others(86): Show |
89 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(86): Show |
intron_variant | MODIFIER | c.183+4332C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063790 | |||||||
| chr1:245063791 | G | A | 1 | a0001c0001t0003g0016 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.183+4333G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063791 | |||||||
| chr1:245063884 | G | A | 1 | a0001c0001t0001g0209 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.183+4426G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245063884 | |||||||
| chr1:245064052 | A | C | 112 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(109): Show |
112 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.183+4594A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245064052 | |||||||
| chr1:245064059 | A | G | 1 | a0001c0001t0001g0142 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.183+4601A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245064059 | |||||||
| chr1:245064075 | T | C | 1 | a0001c0002t0002g0151 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.183+4617T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245064075 | |||||||
| chr1:245064107 | C | T | 1 | a0001c0001t0003g0044 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.183+4649C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245064107 | |||||||
| chr1:245064302 | A | G | 1 | a0001c0002t0004g0033 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.183+4844A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245064302 | |||||||
| chr1:245064671 | A | G | 1 | a0001c0002t0002g0289 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.183+5213A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245064671 | |||||||
| chr1:245064766 | G | A | 1 | a0001c0001t0001g0287 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.183+5308G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245064766 | |||||||
| chr1:245064857 | T | C | 266 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(263): Show |
266 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
intron_variant | MODIFIER | c.183+5399T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245064857 | |||||||
| chr1:245064942 | T | G | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.183+5484T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245064942 | |||||||
| chr1:245065073 | C | CT | 11 | a0001c0001t0001g0113 a0001c0001t0002g0193 a0001c0001t0002g0195 others(8): Show |
11 | HG00621.hp2 HG02074.hp2 HG02129.hp2 others(8): Show |
intron_variant | MODIFIER | c.183+5639dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245065073 | ||||||
| chr1:245065073 | C | CTT | 73 | a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0002t0002g0085 others(70): Show |
73 | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(70): Show |
intron_variant | MODIFIER | c.183+5638_183+5639d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245065073 | ||||||
| chr1:245065073 | C | CTTT | 14 | a0001c0001t0001g0143 a0001c0001t0001g0277 a0001c0002t0002g0148 others(11): Show |
14 | HG00423.hp2 HG01361.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.183+5637_183+5639d others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245065073 | ||||||
| chr1:245065073 | CT | C | 55 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0053 others(52): Show |
55 | HG00099.hp2 HG00423.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.183+5639delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245065073 | ||||||
| chr1:245065073 | CTT | C | 6 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0142 others(3): Show |
6 | HG00099.hp1 HG01081.hp1 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.183+5638_183+5639d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245065073 | ||||||
| chr1:245065073 | CTTTTTTT others(3): Show |
C | 1 | a0001c0001t0005g0191 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.183+5630_183+5639d others(12): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245065073 | ||||||
| chr1:245065073 | CTTTTTTT others(4): Show |
C | 11 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(8): Show |
11 | HG01496.hp2 HG02486.hp2 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.183+5629_183+5639d others(13): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245065073 | ||||||
| chr1:245065073 | CTTTTTTT others(5): Show |
C | 18 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(15): Show |
18 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.183+5628_183+5639d others(14): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245065073 | ||||||
| chr1:245065191 | T | C | 1 | a0001c0001t0003g0007 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.183+5733T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065191 | |||||||
| chr1:245065197 | C | G | 93 | a0001c0001t0001g0143 a0001c0001t0001g0277 a0001c0001t0001g0283 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.183+5739C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065197 | |||||||
| chr1:245065265 | CT | C | 93 | a0001c0001t0001g0143 a0001c0001t0001g0277 a0001c0001t0001g0283 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.183+5808delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065265 | |||||||
| chr1:245065423 | G | C | 122 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0120 others(119): Show |
122 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(119): Show |
intron_variant | MODIFIER | c.183+5965G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065423 | |||||||
| chr1:245065450 | C | G | 3 | a0001c0001t0003g0021 a0001c0001t0003g0051 a0001c0001t0003g0057 |
3 | HG00673.hp1 HG02132.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.183+5992C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065450 | |||||||
| chr1:245065492 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.183+6034C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065492 | |||||||
| chr1:245065584 | A | G | 112 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(109): Show |
112 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.183+6126A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065584 | |||||||
| chr1:245065626 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.183+6168C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065626 | |||||||
| chr1:245065734 | C | A | 89 | a0001c0001t0001g0277 a0001c0002t0002g0085 a0001c0002t0002g0086 others(86): Show |
89 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(86): Show |
intron_variant | MODIFIER | c.183+6276C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065734 | |||||||
| chr1:245065775 | G | A | 7 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show |
7 | HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.183+6317G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245065775 | |||||||
| chr1:245066075 | A | T | 89 | a0001c0001t0001g0277 a0001c0002t0002g0085 a0001c0002t0002g0086 others(86): Show |
89 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(86): Show |
intron_variant | MODIFIER | c.183+6617A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066075 | |||||||
| chr1:245066164 | G | T | 3 | a0001c0001t0001g0144 a0001c0001t0001g0194 a0001c0001t0006g0001 |
4 | HG01981.hp1 HG02630.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.183+6706G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066164 | |||||||
| chr1:245066331 | G | A | 40 | a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0199 others(37): Show |
40 | HG00423.hp2 HG00621.hp1 HG01256.hp2 others(37): Show |
intron_variant | MODIFIER | c.183+6873G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066331 | |||||||
| chr1:245066355 | T | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.183+6897T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066355 | |||||||
| chr1:245066428 | C | T | 18 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(15): Show |
18 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.183+6970C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066428 | |||||||
| chr1:245066441 | T | G | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.183+6983T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066441 | |||||||
| chr1:245066450 | A | C | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.183+6992A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066450 | |||||||
| chr1:245066466 | T | G | 149 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0120 others(146): Show |
149 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(146): Show |
intron_variant | MODIFIER | c.183+7008T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066466 | |||||||
| chr1:245066598 | T | C | 237 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(234): Show |
237 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
intron_variant | MODIFIER | c.183+7140T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066598 | |||||||
| chr1:245066804 | G | A | 1 | a0001c0001t0001g0095 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.183+7346G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066804 | |||||||
| chr1:245066823 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.183+7365C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245066823 | |||||||
| chr1:245067166 | G | A | 1 | a0001c0002t0002g0255 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.183+7708G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245067166 | |||||||
| chr1:245067274 | C | T | 27 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(24): Show |
27 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.183+7816C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245067274 | |||||||
| chr1:245067408 | G | A | 111 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(108): Show |
111 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.183+7950G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245067408 | |||||||
| chr1:245067456 | G | C | 7 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0279 others(4): Show |
7 | HG01496.hp2 HG02257.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.183+7998G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245067456 | |||||||
| chr1:245067465 | T | G | 1 | a0001c0002t0004g0047 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.183+8007T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245067465 | |||||||
| chr1:245067655 | T | A | 90 | a0001c0001t0001g0143 a0001c0001t0001g0277 a0001c0002t0002g0085 others(87): Show |
90 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(87): Show |
intron_variant | MODIFIER | c.183+8197T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245067655 | |||||||
| chr1:245068023 | C | CT | 267 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(264): Show |
267 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
intron_variant | MODIFIER | c.183+8565_183+8566i others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245068023 | |||||||
| chr1:245068030 | C | A | 120 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0122 others(117): Show |
120 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(117): Show |
intron_variant | MODIFIER | c.183+8572C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245068030 | |||||||
| chr1:245068208 | G | A | 25 | a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0122 others(22): Show |
25 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.183+8750G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245068208 | |||||||
| chr1:245068259 | T | C | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.183+8801T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245068259 | |||||||
| chr1:245068292 | T | C | 1 | a0001c0002t0002g0247 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.183+8834T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245068292 | |||||||
| chr1:245068445 | G | A | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.183+8987G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245068445 | |||||||
| chr1:245068536 | G | A | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.183+9078G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245068536 | |||||||
| chr1:245068579 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.183+9121C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245068579 | |||||||
| chr1:245068608 | A | AT | 7 | a0001c0001t0001g0134 a0001c0001t0001g0282 a0001c0001t0001g0284 others(4): Show |
7 | HG02145.hp2 HG02559.hp2 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.183+9166dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245068608 | ||||||
| chr1:245068608 | AT | A | 9 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0270 others(6): Show |
9 | HG02523.hp2 HG02895.hp2 HG02897.hp1 others(6): Show |
intron_variant | MODIFIER | c.183+9166delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245068608 | ||||||
| chr1:245069071 | T | C | 5 | a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0181 others(2): Show |
5 | HG02486.hp2 HG02970.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.183+9613T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069071 | |||||||
| chr1:245069330 | A | G | 156 | a0001c0001t0001g0004 a0001c0001t0001g0094 a0001c0001t0001g0118 others(153): Show |
156 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.183+9872A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069330 | |||||||
| chr1:245069336 | A | G | 4 | a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 others(1): Show |
4 | HG01433.hp1 HG02055.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.183+9878A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069336 | |||||||
| chr1:245069384 | C | T | 1 | a0001c0002t0002g0196 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.183+9926C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069384 | |||||||
| chr1:245069423 | A | G | 1 | a0001c0002t0002g0220 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.183+9965A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069423 | |||||||
| chr1:245069450 | A | C | 1 | a0001c0002t0002g0167 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.183+9992A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069450 | |||||||
| chr1:245069495 | G | C | 11 | a0001c0001t0001g0126 a0001c0001t0001g0166 a0001c0001t0001g0242 others(8): Show |
11 | HG01433.hp1 HG02055.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.183+10037G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069495 | |||||||
| chr1:245069534 | G | A | 1 | a0001c0001t0001g0242 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.183+10076G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069534 | |||||||
| chr1:245069613 | G | A | 6 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(3): Show |
6 | HG01109.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.183+10155G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069613 | |||||||
| chr1:245069671 | G | C | 120 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(117): Show |
120 | HG00099.hp2 HG00423.hp1 HG00597.hp2 others(117): Show |
intron_variant | MODIFIER | c.183+10213G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069671 | |||||||
| chr1:245069684 | G | A | 4 | a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 others(1): Show |
4 | HG01081.hp1 HG01255.hp1 NA18978.hp2 others(1): Show |
intron_variant | MODIFIER | c.183+10226G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069684 | |||||||
| chr1:245069738 | A | G | 1 | a0001c0001t0003g0044 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.183+10280A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069738 | |||||||
| chr1:245069885 | A | T | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.183+10427A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245069885 | |||||||
| chr1:245070012 | T | A | 27 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(24): Show |
27 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.183+10554T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245070012 | |||||||
| chr1:245070082 | G | A | 1 | a0001c0001t0003g0022 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.183+10624G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245070082 | |||||||
| chr1:245070163 | C | T | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.183+10705C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245070163 | |||||||
| chr1:245070236 | A | G | 1 | a0001c0001t0001g0108 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.183+10778A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245070236 | |||||||
| chr1:245070289 | T | A | 1 | a0001c0001t0003g0084 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.183+10831T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245070289 | |||||||
| chr1:245070451 | G | C | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.183+10993G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245070451 | |||||||
| chr1:245070575 | A | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.183+11117A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245070575 | |||||||
| chr1:245070868 | C | T | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.184-11215C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245070868 | |||||||
| chr1:245071068 | G | A | 1 | a0001c0001t0001g0108 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.184-11015G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071068 | |||||||
| chr1:245071300 | C | T | 1 | a0001c0001t0001g0277 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.184-10783C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071300 | |||||||
| chr1:245071435 | T | G | 253 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(250): Show |
253 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
intron_variant | MODIFIER | c.184-10648T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071435 | |||||||
| chr1:245071447 | G | T | 1 | a0001c0001t0001g0004 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.184-10636G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071447 | |||||||
| chr1:245071477 | G | A | 1 | a0001c0001t0003g0005 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.184-10606G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071477 | |||||||
| chr1:245071577 | G | A | 1 | a0001c0001t0001g0119 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.184-10506G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071577 | |||||||
| chr1:245071645 | C | T | 12 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 others(9): Show |
12 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.184-10438C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071645 | |||||||
| chr1:245071698 | A | G | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.184-10385A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071698 | |||||||
| chr1:245071709 | C | A | 1 | a0001c0001t0003g0012 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.184-10374C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071709 | |||||||
| chr1:245071749 | G | T | 1 | a0001c0001t0001g0267 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.184-10334G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071749 | |||||||
| chr1:245071776 | C | T | 16 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(13): Show |
16 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(13): Show |
intron_variant | MODIFIER | c.184-10307C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071776 | |||||||
| chr1:245071876 | C | T | 3 | a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0172 |
3 | HG00639.hp1 HG01516.hp2 HG01978.hp2 |
intron_variant | MODIFIER | c.184-10207C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071876 | |||||||
| chr1:245071945 | G | A | 9 | a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 others(6): Show |
9 | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.184-10138G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245071945 | |||||||
| chr1:245072015 | G | A | 2 | a0001c0002t0002g0153 a0001c0002t0002g0158 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.184-10068G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072015 | |||||||
| chr1:245072031 | C | T | 104 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(101): Show |
104 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.184-10052C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072031 | |||||||
| chr1:245072097 | T | G | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.184-9986T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072097 | |||||||
| chr1:245072275 | A | G | 1 | a0001c0001t0006g0001 | 2 | HG03516.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.184-9808A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072275 | |||||||
| chr1:245072467 | G | A | 3 | a0001c0001t0005g0136 a0001c0001t0005g0190 a0001c0001t0005g0191 |
3 | HG02257.hp1 HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.184-9616G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072467 | |||||||
| chr1:245072538 | C | T | 4 | a0001c0001t0001g0143 a0001c0001t0001g0283 a0001c0001t0001g0285 others(1): Show |
4 | HG02895.hp1 HG03130.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.184-9545C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072538 | |||||||
| chr1:245072574 | A | G | 104 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(101): Show |
104 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.184-9509A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072574 | |||||||
| chr1:245072618 | C | T | 1 | a0001c0001t0001g0122 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.184-9465C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072618 | |||||||
| chr1:245072833 | C | T | 1 | a0001c0002t0002g0154 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.184-9250C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072833 | |||||||
| chr1:245072834 | G | A | 7 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show |
7 | HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.184-9249G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072834 | |||||||
| chr1:245072862 | C | T | 1 | a0001c0001t0001g0104 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.184-9221C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072862 | |||||||
| chr1:245072976 | G | A | 16 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(13): Show |
16 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(13): Show |
intron_variant | MODIFIER | c.184-9107G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245072976 | |||||||
| chr1:245073105 | A | C | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.184-8978A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073105 | |||||||
| chr1:245073139 | T | G | 1 | a0001c0001t0001g0202 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.184-8944T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073139 | |||||||
| chr1:245073334 | C | A | 1 | a0001c0002t0002g0098 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.184-8749C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073334 | |||||||
| chr1:245073427 | C | T | 1 | a0001c0001t0001g0144 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.184-8656C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073427 | |||||||
| chr1:245073576 | A | G | 1 | a0001c0001t0003g0032 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.184-8507A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073576 | |||||||
| chr1:245073588 | T | G | 2 | a0001c0001t0001g0118 a0001c0001t0001g0124 |
2 | HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.184-8495T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073588 | |||||||
| chr1:245073650 | TAAGTA | T | 9 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 others(6): Show |
9 | HG02257.hp1 HG02486.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.184-8430_184-8426d others(7): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245073650 | ||||||
| chr1:245073713 | A | T | 1 | a0001c0002t0002g0258 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.184-8370A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073713 | |||||||
| chr1:245073732 | A | G | 125 | a0001c0001t0001g0143 a0001c0001t0001g0201 a0001c0001t0001g0202 others(122): Show |
125 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(122): Show |
intron_variant | MODIFIER | c.184-8351A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073732 | |||||||
| chr1:245073833 | T | C | 12 | a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0244 others(9): Show |
12 | HG00423.hp2 HG02027.hp1 HG02132.hp2 others(9): Show |
intron_variant | MODIFIER | c.184-8250T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073833 | |||||||
| chr1:245073835 | C | T | 1 | a0001c0001t0003g0064 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.184-8248C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073835 | |||||||
| chr1:245073874 | G | C | 1 | a0001c0001t0003g0031 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.184-8209G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245073874 | |||||||
| chr1:245074076 | T | C | 1 | a0001c0001t0001g0109 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.184-8007T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074076 | |||||||
| chr1:245074078 | G | A | 2 | a0001c0001t0003g0014 a0001c0001t0003g0024 |
2 | NA18992.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.184-8005G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074078 | |||||||
| chr1:245074106 | T | C | 3 | a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 |
3 | HG02895.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.184-7977T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074106 | |||||||
| chr1:245074192 | G | A | 1 | a0001c0001t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.184-7891G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074192 | |||||||
| chr1:245074220 | A | G | 1 | a0001c0002t0002g0248 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.184-7863A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074220 | |||||||
| chr1:245074449 | C | A | 4 | a0001c0001t0001g0143 a0001c0001t0001g0283 a0001c0001t0001g0285 others(1): Show |
4 | HG02895.hp1 HG03130.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.184-7634C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074449 | |||||||
| chr1:245074573 | C | T | 5 | a0001c0002t0002g0213 a0001c0002t0002g0217 a0001c0002t0002g0222 others(2): Show |
5 | NA18946.hp2 NA18952.hp2 NA19005.hp1 others(2): Show |
intron_variant | MODIFIER | c.184-7510C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074573 | |||||||
| chr1:245074574 | G | T | 1 | a0001c0001t0001g0142 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.184-7509G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074574 | |||||||
| chr1:245074746 | A | AT | 269 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(266): Show |
269 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(266): Show |
intron_variant | MODIFIER | c.184-7332dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245074746 | ||||||
| chr1:245074752 | G | C | 269 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(266): Show |
269 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(266): Show |
intron_variant | MODIFIER | c.184-7331G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074752 | |||||||
| chr1:245074836 | G | T | 18 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(15): Show |
18 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.184-7247G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074836 | |||||||
| chr1:245074936 | TACAA | T | 116 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(113): Show |
116 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(113): Show |
intron_variant | MODIFIER | c.184-7143_184-7140d others(6): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245074936 | ||||||
| chr1:245074945 | T | G | 1 | a0001c0001t0001g0142 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.184-7138T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074945 | |||||||
| chr1:245074962 | G | T | 3 | a0001c0001t0005g0136 a0001c0001t0005g0190 a0001c0001t0005g0191 |
3 | HG02257.hp1 HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.184-7121G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245074962 | |||||||
| chr1:245075046 | G | A | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.184-7037G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075046 | |||||||
| chr1:245075140 | G | A | 22 | a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 others(19): Show |
22 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.184-6943G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075140 | |||||||
| chr1:245075242 | ACACCTGC others(9): Show |
A | 1 | a0001c0001t0001g0283 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.184-6840_184-6825d others(18): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075242 | |||||||
| chr1:245075250 | C | T | 1 | a0001c0001t0001g0144 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.184-6833C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075250 | |||||||
| chr1:245075259 | A | G | 1 | a0001c0001t0001g0283 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.184-6824A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075259 | |||||||
| chr1:245075260 | C | T | 1 | a0001c0001t0001g0283 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.184-6823C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075260 | |||||||
| chr1:245075268 | G | A | 3 | a0001c0001t0003g0029 a0001c0001t0003g0043 a0001c0001t0003g0056 |
3 | NA18949.hp1 NA18998.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.184-6815G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075268 | |||||||
| chr1:245075401 | A | G | 104 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(101): Show |
104 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.184-6682A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075401 | |||||||
| chr1:245075437 | A | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.184-6646A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075437 | |||||||
| chr1:245075441 | T | G | 1 | a0001c0001t0001g0123 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.184-6642T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075441 | |||||||
| chr1:245075520 | A | G | 4 | a0001c0001t0003g0007 a0001c0001t0003g0058 a0001c0001t0003g0077 others(1): Show |
4 | NA18612.hp1 NA19001.hp2 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.184-6563A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075520 | |||||||
| chr1:245075549 | C | T | 4 | a0001c0001t0001g0126 a0001c0001t0001g0181 a0001c0001t0001g0182 others(1): Show |
4 | HG02970.hp2 HG03139.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.184-6534C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075549 | |||||||
| chr1:245075693 | C | T | 111 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(108): Show |
111 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(108): Show |
intron_variant | MODIFIER | c.184-6390C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075693 | |||||||
| chr1:245075722 | C | T | 1 | a0001c0001t0001g0093 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.184-6361C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075722 | |||||||
| chr1:245075732 | C | G | 268 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(265): Show |
268 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
intron_variant | MODIFIER | c.184-6351C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075732 | |||||||
| chr1:245075864 | G | A | 1 | a0001c0001t0003g0005 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.184-6219G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075864 | |||||||
| chr1:245075916 | C | G | 242 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(239): Show |
242 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show |
intron_variant | MODIFIER | c.184-6167C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075916 | |||||||
| chr1:245075985 | A | C | 1 | a0001c0001t0001g0126 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.184-6098A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075985 | |||||||
| chr1:245075994 | G | A | 5 | a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 others(2): Show |
5 | HG01109.hp2 HG02257.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.184-6089G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245075994 | |||||||
| chr1:245076008 | G | A | 1 | a0001c0001t0001g0135 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.184-6075G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076008 | |||||||
| chr1:245076040 | T | C | 245 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(242): Show |
245 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show |
intron_variant | MODIFIER | c.184-6043T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076040 | |||||||
| chr1:245076086 | C | G | 1 | a0001c0001t0001g0122 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.184-5997C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076086 | |||||||
| chr1:245076087 | G | A | 1 | a0001c0002t0002g0155 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.184-5996G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076087 | |||||||
| chr1:245076145 | G | T | 2 | a0001c0001t0001g0282 a0001c0001t0001g0284 |
2 | HG03130.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.184-5938G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076145 | |||||||
| chr1:245076275 | G | C | 64 | a0001c0001t0001g0004 a0001c0001t0001g0118 a0001c0001t0001g0122 others(61): Show |
64 | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.184-5808G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076275 | |||||||
| chr1:245076360 | G | C | 9 | a0001c0001t0001g0122 a0001c0001t0001g0174 a0001c0001t0001g0175 others(6): Show |
9 | HG01109.hp2 HG02135.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.184-5723G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076360 | |||||||
| chr1:245076498 | T | C | 6 | a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0143 others(3): Show |
6 | HG02895.hp1 HG03130.hp2 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.184-5585T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076498 | |||||||
| chr1:245076531 | T | C | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.184-5552T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076531 | |||||||
| chr1:245076657 | T | C | 1 | a0001c0001t0003g0015 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.184-5426T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076657 | |||||||
| chr1:245076725 | A | AT | 30 | a0001c0001t0001g0004 a0001c0001t0001g0122 a0001c0001t0001g0123 others(27): Show |
30 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(27): Show |
intron_variant | MODIFIER | c.184-5347dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245076725 | ||||||
| chr1:245076725 | A | ATT | 93 | a0001c0001t0001g0277 a0001c0001t0002g0192 a0001c0001t0002g0193 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.184-5348_184-5347d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245076725 | ||||||
| chr1:245076851 | C | T | 3 | a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0009g0232 |
3 | NA18961.hp2 NA18983.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.184-5232C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076851 | |||||||
| chr1:245076932 | G | A | 1 | a0001c0001t0001g0004 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.184-5151G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076932 | |||||||
| chr1:245076939 | A | C | 4 | a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 others(1): Show |
4 | HG01981.hp1 HG02723.hp2 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.184-5144A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076939 | |||||||
| chr1:245076972 | A | G | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.184-5111A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245076972 | |||||||
| chr1:245077034 | T | C | 1 | a0001c0001t0001g0287 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.184-5049T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245077034 | |||||||
| chr1:245077231 | A | G | 1 | a0001c0001t0001g0122 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.184-4852A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245077231 | |||||||
| chr1:245077262 | A | G | 1 | a0001c0001t0001g0287 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.184-4821A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245077262 | |||||||
| chr1:245077267 | C | T | 4 | a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0148 others(1): Show |
4 | HG00280.hp1 HG02109.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.184-4816C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245077267 | |||||||
| chr1:245077353 | T | G | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.184-4730T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245077353 | |||||||
| chr1:245077582 | C | T | 225 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(222): Show |
225 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show |
intron_variant | MODIFIER | c.184-4501C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245077582 | |||||||
| chr1:245077595 | A | G | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.184-4488A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245077595 | |||||||
| chr1:245077730 | G | T | 1 | a0001c0001t0001g0004 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.184-4353G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245077730 | |||||||
| chr1:245078143 | G | C | 1 | a0001c0001t0011g0278 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.184-3940G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245078143 | |||||||
| chr1:245078144 | G | T | 225 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(222): Show |
225 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show |
intron_variant | MODIFIER | c.184-3939G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245078144 | |||||||
| chr1:245078427 | C | T | 95 | a0001c0001t0001g0119 a0001c0001t0001g0277 a0001c0001t0002g0192 others(92): Show |
95 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(92): Show |
intron_variant | MODIFIER | c.184-3656C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245078427 | |||||||
| chr1:245078451 | T | G | 17 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(14): Show |
17 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(14): Show |
intron_variant | MODIFIER | c.184-3632T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245078451 | |||||||
| chr1:245078452 | A | AAACAAAA others(7): Show |
271 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(268): Show |
271 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show |
intron_variant | MODIFIER | c.184-3631_184-3630i others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245078452 | |||||||
| chr1:245078460 | T | TAC | 17 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0119 others(14): Show |
17 | HG00099.hp1 HG00597.hp2 HG00621.hp2 others(14): Show |
intron_variant | MODIFIER | c.184-3610_184-3609d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245078460 | ||||||
| chr1:245078661 | C | T | 15 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(12): Show |
15 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(12): Show |
intron_variant | MODIFIER | c.184-3422C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245078661 | |||||||
| chr1:245078823 | T | C | 15 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(12): Show |
15 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(12): Show |
intron_variant | MODIFIER | c.184-3260T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245078823 | |||||||
| chr1:245078910 | G | A | 1 | a0001c0001t0005g0191 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.184-3173G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245078910 | |||||||
| chr1:245079066 | G | A | 127 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(124): Show |
127 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(124): Show |
intron_variant | MODIFIER | c.184-3017G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245079066 | |||||||
| chr1:245079101 | T | C | 1 | a0001c0002t0002g0248 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.184-2982T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245079101 | |||||||
| chr1:245079479 | T | C | 8 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(5): Show |
8 | HG01109.hp2 HG02135.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.184-2604T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245079479 | |||||||
| chr1:245079546 | A | C | 7 | a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0001g0279 others(4): Show |
7 | HG02723.hp2 HG02895.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.184-2537A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245079546 | |||||||
| chr1:245079583 | A | ATT | 6 | a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 others(3): Show |
6 | HG00140.hp2 HG00280.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.184-2499_184-2498d others(4): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245079583 | ||||||
| chr1:245079587 | T | C | 1 | a0001c0001t0001g0123 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.184-2496T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245079587 | |||||||
| chr1:245079629 | C | G | 1 | a0001c0001t0001g0204 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.184-2454C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245079629 | |||||||
| chr1:245079724 | GA | G | 7 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show |
7 | HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.184-2352delA | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245079724 | ||||||
| chr1:245079851 | G | A | 1 | a0001c0002t0002g0151 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.184-2232G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245079851 | |||||||
| chr1:245080018 | A | C | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.184-2065A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080018 | |||||||
| chr1:245080050 | A | G | 3 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 |
3 | HG02970.hp2 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.184-2033A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080050 | |||||||
| chr1:245080106 | T | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.184-1977T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080106 | |||||||
| chr1:245080432 | A | C | 1 | a0001c0001t0001g0123 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.184-1651A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080432 | |||||||
| chr1:245080753 | C | G | 1 | a0001c0001t0003g0102 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.184-1330C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080753 | |||||||
| chr1:245080791 | T | A | 7 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show |
7 | HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.184-1292T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080791 | |||||||
| chr1:245080858 | C | T | 1 | a0001c0001t0003g0011 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.184-1225C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080858 | |||||||
| chr1:245080867 | G | A | 104 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(101): Show |
104 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.184-1216G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080867 | |||||||
| chr1:245080938 | G | A | 1 | a0001c0002t0004g0112 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.184-1145G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080938 | |||||||
| chr1:245080979 | C | A | 93 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.184-1104C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245080979 | |||||||
| chr1:245081137 | TTTA | T | 27 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(24): Show |
27 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.184-943_184-941del others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | 245081137 | ||||||
| chr1:245081363 | G | A | 27 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(24): Show |
27 | HG00597.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.184-720G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245081363 | |||||||
| chr1:245081397 | G | A | 1 | a0001c0001t0001g0284 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.184-686G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245081397 | |||||||
| chr1:245081413 | G | A | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.184-670G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245081413 | |||||||
| chr1:245081441 | G | A | 7 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show |
7 | HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.184-642G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245081441 | |||||||
| chr1:245081442 | T | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.184-641T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245081442 | |||||||
| chr1:245081537 | C | T | 1 | a0001c0001t0008g0288 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.184-546C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245081537 | |||||||
| chr1:245081851 | C | G | 9 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(6): Show |
intron_variant | MODIFIER | c.184-232C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245081851 | |||||||
| chr1:245082076 | T | C | 93 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
splice_region_variant&intron_variant | LOW | c.184-7T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | chr1 | 245082076 | |||||||
| chr1:245082245 | C | T | 1 | a0001c0001t0001g0122 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.263+83C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082245 | |||||||
| chr1:245082397 | A | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+235A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082397 | |||||||
| chr1:245082403 | G | A | 273 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(270): Show |
273 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
intron_variant | MODIFIER | c.263+241G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082403 | |||||||
| chr1:245082403 | G | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+241G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082403 | |||||||
| chr1:245082405 | A | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+243A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082405 | |||||||
| chr1:245082406 | A | T | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+244A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082406 | |||||||
| chr1:245082407 | A | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+245A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082407 | |||||||
| chr1:245082413 | A | AACAACAA others(28): Show |
1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+251_263+252ins others(35): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082413 | |||||||
| chr1:245082414 | T | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+252T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082414 | |||||||
| chr1:245082418 | T | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+256T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082418 | |||||||
| chr1:245082420 | G | A | 2 | a0001c0001t0003g0021 a0001c0001t0003g0074 |
2 | NA18966.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.263+258G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082420 | |||||||
| chr1:245082421 | T | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+259T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082421 | |||||||
| chr1:245082423 | T | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+261T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082423 | |||||||
| chr1:245082424 | CTTCTGTT others(3): Show |
C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+263_263+272del others(10): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082424 | |||||||
| chr1:245082437 | T | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+275T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082437 | |||||||
| chr1:245082438 | T | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+276T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082438 | |||||||
| chr1:245082439 | A | G | 7 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show |
7 | HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.263+277A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082439 | |||||||
| chr1:245082440 | T | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+278T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082440 | |||||||
| chr1:245082441 | C | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+279C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082441 | |||||||
| chr1:245082442 | A | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+280A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082442 | |||||||
| chr1:245082444 | T | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+282T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082444 | |||||||
| chr1:245082447 | T | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+285T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082447 | |||||||
| chr1:245082448 | A | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+286A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082448 | |||||||
| chr1:245082450 | A | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+288A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082450 | |||||||
| chr1:245082451 | T | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+289T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082451 | |||||||
| chr1:245082454 | G | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+292G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082454 | |||||||
| chr1:245082457 | T | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+295T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082457 | |||||||
| chr1:245082458 | C | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+296C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082458 | |||||||
| chr1:245082459 | C | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+297C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082459 | |||||||
| chr1:245082460 | T | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+298T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082460 | |||||||
| chr1:245082461 | A | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+299A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082461 | |||||||
| chr1:245082463 | T | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+301T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082463 | |||||||
| chr1:245082466 | T | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+304T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082466 | |||||||
| chr1:245082468 | T | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+306T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082468 | |||||||
| chr1:245082473 | G | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+311G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082473 | |||||||
| chr1:245082477 | A | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+315A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082477 | |||||||
| chr1:245082480 | T | C | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+318T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082480 | |||||||
| chr1:245082481 | A | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+319A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082481 | |||||||
| chr1:245082482 | T | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+320T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082482 | |||||||
| chr1:245082485 | C | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+323C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082485 | |||||||
| chr1:245082487 | T | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+325T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082487 | |||||||
| chr1:245082488 | T | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+326T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082488 | |||||||
| chr1:245082491 | C | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+329C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082491 | |||||||
| chr1:245082492 | T | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+330T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082492 | |||||||
| chr1:245082493 | T | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+331T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082493 | |||||||
| chr1:245082495 | C | A | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+333C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082495 | |||||||
| chr1:245082496 | C | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+334C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082496 | |||||||
| chr1:245082498 | T | G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+336T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082498 | |||||||
| chr1:245082500 | GTTGGTTC others(20): Show |
G | 1 | a0001c0001t0003g0021 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.263+339_263+365del others(27): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082500 | |||||||
| chr1:245082686 | C | CTTTTA | 20 | a0001c0001t0001g0053 a0001c0001t0001g0161 a0001c0001t0001g0164 others(17): Show |
20 | HG01106.hp1 HG02040.hp2 HG02257.hp1 others(17): Show |
intron_variant | MODIFIER | c.263+554_263+558dup others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | 245082686 | ||||||
| chr1:245082686 | C | CTTTTATT others(3): Show |
1 | a0001c0001t0007g0243 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.263+549_263+558dup others(10): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | 245082686 | ||||||
| chr1:245082686 | CTTTTA | C | 103 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 others(100): Show |
103 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(100): Show |
intron_variant | MODIFIER | c.263+554_263+558del others(5): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | 245082686 | ||||||
| chr1:245082868 | C | G | 1 | a0001c0001t0003g0041 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.264-574C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082868 | |||||||
| chr1:245082964 | C | G | 93 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.264-478C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082964 | |||||||
| chr1:245082977 | G | A | 7 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(4): Show |
7 | HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.264-465G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245082977 | |||||||
| chr1:245083038 | G | A | 233 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(230): Show |
233 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show |
intron_variant | MODIFIER | c.264-404G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245083038 | |||||||
| chr1:245083045 | C | G | 1 | a0001c0001t0010g0237 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.264-397C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245083045 | |||||||
| chr1:245083174 | G | A | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.264-268G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245083174 | |||||||
| chr1:245083197 | G | A | 93 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.264-245G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245083197 | |||||||
| chr1:245083243 | C | T | 93 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.264-199C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245083243 | |||||||
| chr1:245083398 | C | T | 5 | a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0001g0283 others(2): Show |
5 | HG02723.hp2 HG02895.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.264-44C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245083398 | |||||||
| chr1:245083410 | C | A | 1 | a0001c0001t0003g0030 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.264-32C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245083410 | |||||||
| chr1:245083410 | C | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.264-32C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | 245083410 | |||||||
| chr1:245083878 | G | A | 104 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(101): Show |
104 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.373+190G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245083878 | |||||||
| chr1:245084057 | AT | A | 70 | a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0003g0031 others(67): Show |
70 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(67): Show |
intron_variant | MODIFIER | c.373+371delT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | 245084057 | ||||||
| chr1:245084058 | T | C | 15 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(12): Show |
15 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(12): Show |
intron_variant | MODIFIER | c.373+370T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084058 | |||||||
| chr1:245084059 | T | C | 24 | a0001c0001t0001g0122 a0001c0001t0002g0192 a0001c0001t0002g0193 others(21): Show |
24 | HG00621.hp1 HG00642.hp2 HG00738.hp2 others(21): Show |
intron_variant | MODIFIER | c.373+371T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084059 | |||||||
| chr1:245084059 | T | TCCCCCCC others(3): Show |
1 | a0001c0001t0001g0286 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.373+373_373+374ins others(10): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | 245084059 | ||||||
| chr1:245084059 | T | TCCCCCCC others(4): Show |
1 | a0001c0001t0001g0285 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.373+373_373+374ins others(11): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | 245084059 | ||||||
| chr1:245084062 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.373+374G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084062 | |||||||
| chr1:245084062 | G | C | 117 | a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0127 others(114): Show |
117 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(114): Show |
intron_variant | MODIFIER | c.373+374G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084062 | |||||||
| chr1:245084062 | G | GCC | 67 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(64): Show |
67 | HG00099.hp1 HG00099.hp2 HG00597.hp2 others(64): Show |
intron_variant | MODIFIER | c.373+383_373+384dup others(2): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | 245084062 | ||||||
| chr1:245084062 | G | GCCC | 31 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 others(28): Show |
31 | HG00423.hp1 HG00609.hp2 HG00738.hp1 others(28): Show |
intron_variant | MODIFIER | c.373+382_373+384dup others(3): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | 245084062 | ||||||
| chr1:245084062 | G | T | 1 | a0001c0002t0004g0065 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.373+374G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084062 | |||||||
| chr1:245084069 | C | A | 1 | a0001c0002t0002g0184 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.373+381C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084069 | |||||||
| chr1:245084069 | C | G | 2 | a0001c0002t0002g0222 a0001c0002t0002g0228 |
2 | NA18952.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.373+381C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084069 | |||||||
| chr1:245084070 | C | CCCCCCCC others(5): Show |
2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.373+384_373+385ins others(12): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | 245084070 | ||||||
| chr1:245084074 | G | T | 3 | a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 |
3 | HG02895.hp1 HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.373+386G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084074 | |||||||
| chr1:245084081 | G | T | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.373+393G>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084081 | |||||||
| chr1:245084083 | C | CT | 96 | a0001c0001t0001g0122 a0001c0001t0001g0283 a0001c0001t0001g0285 others(93): Show |
96 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(93): Show |
intron_variant | MODIFIER | c.373+407dupT | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | 245084083 | ||||||
| chr1:245084101 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.373+413G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084101 | |||||||
| chr1:245084118 | G | A | 93 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.373+430G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084118 | |||||||
| chr1:245084142 | C | T | 2 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.373+454C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084142 | |||||||
| chr1:245084144 | C | T | 1 | a0001c0001t0005g0136 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.373+456C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084144 | |||||||
| chr1:245084145 | G | A | 1 | a0001c0002t0002g0289 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.373+457G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084145 | |||||||
| chr1:245084271 | T | G | 1 | a0001c0002t0002g0145 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.373+583T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084271 | |||||||
| chr1:245084290 | C | T | 1 | a0001c0001t0003g0076 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.373+602C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084290 | |||||||
| chr1:245084467 | C | A | 93 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.373+779C>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084467 | |||||||
| chr1:245084471 | A | T | 104 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(101): Show |
104 | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.373+783A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084471 | |||||||
| chr1:245084615 | G | A | 1 | a0001c0002t0002g0139 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.373+927G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084615 | |||||||
| chr1:245084738 | G | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.373+1050G>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084738 | |||||||
| chr1:245084765 | T | G | 2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.373+1077T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084765 | |||||||
| chr1:245084923 | G | A | 3 | a0001c0001t0005g0136 a0001c0001t0005g0190 a0001c0001t0005g0191 |
3 | HG02257.hp1 HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.373+1235G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245084923 | |||||||
| chr1:245085047 | A | C | 1 | a0001c0001t0001g0104 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.373+1359A>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245085047 | |||||||
| chr1:245085141 | C | G | 93 | a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.373+1453C>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245085141 | |||||||
| chr1:245085506 | A | G | 2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.374-1739A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245085506 | |||||||
| chr1:245085835 | A | G | 1 | a0001c0001t0003g0057 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.374-1410A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245085835 | |||||||
| chr1:245085871 | T | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.374-1374T>C | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245085871 | |||||||
| chr1:245085911 | C | T | 2 | a0001c0001t0001g0236 a0001c0001t0001g0239 |
2 | NA18747.hp2 NA19072.hp2 |
intron_variant | MODIFIER | c.374-1334C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245085911 | |||||||
| chr1:245085953 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.374-1292G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245085953 | |||||||
| chr1:245086044 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.374-1201G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086044 | |||||||
| chr1:245086089 | T | G | 1 | a0001c0001t0001g0118 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.374-1156T>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086089 | |||||||
| chr1:245086130 | C | T | 3 | a0001c0002t0002g0145 a0001c0002t0002g0156 a0001c0002t0002g0169 |
3 | HG01071.hp2 HG02615.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.374-1115C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086130 | |||||||
| chr1:245086178 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0277 |
2 | HG01496.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.374-1067G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086178 | |||||||
| chr1:245086387 | A | T | 2 | a0001c0001t0001g0124 a0001c0001t0001g0126 |
2 | HG03486.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.374-858A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086387 | |||||||
| chr1:245086388 | A | T | 2 | a0001c0001t0001g0124 a0001c0001t0001g0126 |
2 | HG03486.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.374-857A>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086388 | |||||||
| chr1:245086391 | G | A | 2 | a0001c0001t0001g0124 a0001c0001t0001g0126 |
2 | HG03486.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.374-854G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086391 | |||||||
| chr1:245086447 | A | G | 26 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0053 others(23): Show |
26 | HG00099.hp1 HG00423.hp1 HG00609.hp2 others(23): Show |
intron_variant | MODIFIER | c.374-798A>G | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086447 | |||||||
| chr1:245086485 | G | A | 2 | a0001c0001t0001g0240 a0001c0001t0009g0232 |
2 | NA18983.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.374-760G>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086485 | |||||||
| chr1:245086628 | T | A | 1 | a0001c0001t0001g0142 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.374-617T>A | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086628 | |||||||
| chr1:245086643 | C | T | 1 | a0001c0001t0003g0064 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.374-602C>T | EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | chr1 | 245086643 |