Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 25825 |
| ensemblid | ENSG00000182240.16 |
| hgncid | 934 |
| symbol | BACE2 |
| name | beta-secretase 2 |
| refseq_nuc | NM_012105.5 |
| refseq_prot | NP_036237.2 |
| ensembl_nuc | ENST00000330333.11 |
| ensembl_prot | ENSP00000332979.6 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 41168160 |
| end | 41282530 |
| strand | + |
| ver | v1.2 |
| region | chr21:41168160-41282530 |
| region5000 | chr21:41163160-41287530 |
| regionname0 | BACE2_chr21_41168160_41282530 |
| regionname5000 | BACE2_chr21_41163160_41287530 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 518 | 271 | 93 | 64 | 64 | 12 | 36 | 44 | BACE2_chr21_41163160_41287530 | BACE2 | MGALA others(513): Show |
chr21 | 41163160 | 41287530 |
| a0002 | 0/0 | 518 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | MGALA others(513): Show |
chr21 | 41163160 | 41287530 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1554 | 179 | 81 | 36 | 32 | 9 | 19 | BACE2_chr21_41163160_41287530 | BACE2 | ATGGG others(1549): Show |
chr21 | 41163160 | 41287530 | ||
| a0001c0002 | 0/0 | 1554 | 88 | 9 | 28 | 31 | 3 | 17 | BACE2_chr21_41163160_41287530 | BACE2 | ATGGG others(1549): Show |
chr21 | 41163160 | 41287530 | ||
| a0001c0003 | 0/0 | 1554 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATGGG others(1549): Show |
chr21 | 41163160 | 41287530 | ||
| a0001c0004 | 0/0 | 1554 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATGGG others(1549): Show |
chr21 | 41163160 | 41287530 | ||
| a0001c0006 | 0/0 | 1554 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATGGG others(1549): Show |
chr21 | 41163160 | 41287530 | ||
| a0002c0005 | 0/0 | 1554 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATGGG others(1549): Show |
chr21 | 41163160 | 41287530 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 8568 | 8 | 1 | 1 | 3 | 2 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0002 | 0/0 | 8568 | 24 | 7 | 3 | 9 | 2 | 3 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0003 | 0/1 | 8568 | 17 | 1 | 5 | 7 | 0 | 3 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0004 | 0/0 | 8568 | 19 | 6 | 5 | 7 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0005 | 0/0 | 8568 | 12 | 12 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0006 | 0/0 | 8568 | 11 | 1 | 4 | 0 | 0 | 6 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0007 | 0/0 | 8568 | 10 | 8 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0008 | 0/0 | 8567 | 9 | 9 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8562): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0009 | 0/0 | 8567 | 6 | 2 | 2 | 0 | 1 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8562): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0010 | 1/0 | 8567 | 6 | 0 | 2 | 0 | 3 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8562): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0011 | 0/0 | 8568 | 6 | 6 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0012 | 0/0 | 8568 | 3 | 2 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0013 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0014 | 0/0 | 8569 | 3 | 1 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8564): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0015 | 0/0 | 8568 | 3 | 0 | 0 | 3 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0016 | 0/0 | 8568 | 3 | 0 | 3 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0017 | 0/0 | 8569 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8564): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0018 | 0/0 | 8567 | 2 | 1 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8562): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0019 | 0/0 | 8568 | 2 | 1 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0020 | 0/0 | 8569 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8564): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0021 | 0/0 | 8569 | 2 | 2 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8564): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0027 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0028 | 0/0 | 8569 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8564): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0029 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0030 | 0/0 | 8653 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8648): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0031 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0032 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0033 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0034 | 0/0 | 8567 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8562): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0035 | 0/0 | 8567 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8562): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0036 | 0/0 | 8567 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8562): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0037 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0038 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0039 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0040 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0042 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0043 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0044 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0045 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0046 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0047 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0048 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0049 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0050 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0051 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0053 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0054 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0061 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0001t0063 | 0/0 | 8569 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8564): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0001 | 0/0 | 8568 | 64 | 7 | 21 | 24 | 3 | 9 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0003 | 0/0 | 8568 | 6 | 0 | 1 | 3 | 0 | 2 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0013 | 0/0 | 8568 | 3 | 1 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0022 | 0/0 | 8568 | 2 | 0 | 0 | 1 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0023 | 0/0 | 8568 | 2 | 0 | 0 | 0 | 0 | 2 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0024 | 0/0 | 8568 | 2 | 0 | 2 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0025 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0026 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0055 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0056 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0057 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0058 | 0/0 | 8568 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0059 | 0/0 | 8569 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8564): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0060 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0002t0062 | 0/0 | 8568 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0003t0005 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0003t0012 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0004t0025 | 0/0 | 8568 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| a0001c0006t0052 | 0/0 | 8567 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8562): Show |
chr21 | 41163160 | 41287530 |
| a0002c0005t0041 | 0/0 | 8568 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | ATCCC others(8563): Show |
chr21 | 41163160 | 41287530 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0001g0263 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0002 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0002g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0110 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0003g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0004g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0005g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0001 | 0/0 | 3 | 0 | 0 | 0 | 0 | 3 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0006g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0007g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0008g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0109 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0009g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0111 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0123 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0220 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0010g0221 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0011g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0012g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0012g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0012g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0013g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0014g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0014g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0014g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0015g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0015g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0015g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0016g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0016g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0016g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0017g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0017g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0018g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0018g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0019g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0019g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0020g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0020g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0021g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0021g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0027g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0028g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0029g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0030g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0031g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0032g0211 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0033g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0034g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0035g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0036g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0037g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0038g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0039g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0040g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0042g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0043g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0044g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0045g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0046g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0047g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0048g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0049g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0050g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0051g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0053g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0054g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0061g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0001t0063g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0233 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0250 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0001g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0003g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0013g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0013g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0013g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0022g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0022g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0023g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0023g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0024g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0024g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0025g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0026g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0055g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0056g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0057g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0058g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0059g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0060g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0002t0062g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0003t0005g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0003t0012g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0004t0025g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0001c0006t0052g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| a0002c0005t0041g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0121 | EUR | GBR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00140 | hp2 | a0001 | c0002 | t0001 | g0122 | EUR | GBR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00280 | hp1 | a0001 | c0001 | t0010 | g0123 | EUR | FIN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0263 | EUR | FIN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00408 | hp1 | a0001 | c0001 | t0004 | g0097 | EAS | CHS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00408 | hp2 | a0001 | c0001 | t0002 | g0178 | EAS | CHS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00642 | hp1 | a0001 | c0002 | t0055 | g0185 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00642 | hp2 | a0001 | c0002 | t0001 | g0102 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00733 | hp1 | a0001 | c0002 | t0001 | g0136 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00733 | hp2 | a0001 | c0002 | t0001 | g0125 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00738 | hp1 | a0001 | c0001 | t0010 | g0217 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00738 | hp2 | a0001 | c0001 | t0003 | g0228 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00741 | hp1 | a0001 | c0002 | t0001 | g0030 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG00741 | hp2 | a0001 | c0001 | t0012 | g0138 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01069 | hp1 | a0001 | c0001 | t0016 | g0040 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0088 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01070 | hp1 | a0001 | c0002 | t0001 | g0206 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01070 | hp2 | a0001 | c0001 | t0007 | g0080 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01071 | hp1 | a0001 | c0001 | t0016 | g0230 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01071 | hp2 | a0001 | c0001 | t0007 | g0208 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01074 | hp1 | a0001 | c0001 | t0016 | g0118 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01074 | hp2 | a0001 | c0001 | t0004 | g0130 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01081 | hp1 | a0001 | c0002 | t0001 | g0094 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01081 | hp2 | a0001 | c0001 | t0013 | g0115 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01099 | hp1 | a0001 | c0002 | t0001 | g0166 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01099 | hp2 | a0001 | c0001 | t0006 | g0252 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01106 | hp1 | a0001 | c0002 | t0001 | g0156 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01106 | hp2 | a0001 | c0001 | t0029 | g0146 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01109 | hp1 | a0001 | c0001 | t0019 | g0209 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01109 | hp2 | a0001 | c0001 | t0009 | g0120 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01167 | hp1 | a0001 | c0002 | t0001 | g0219 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01167 | hp2 | a0001 | c0001 | t0014 | g0251 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01168 | hp1 | a0001 | c0002 | t0001 | g0260 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01168 | hp2 | a0001 | c0002 | t0024 | g0055 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01169 | hp1 | a0001 | c0002 | t0024 | g0022 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01169 | hp2 | a0001 | c0001 | t0014 | g0197 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01175 | hp1 | a0001 | c0001 | t0004 | g0019 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0224 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01192 | hp1 | a0001 | c0002 | t0001 | g0029 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01192 | hp2 | a0001 | c0001 | t0006 | g0058 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01243 | hp1 | a0001 | c0001 | t0010 | g0124 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01243 | hp2 | a0001 | c0001 | t0002 | g0190 | AMR | PUR | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01255 | hp1 | a0001 | c0001 | t0006 | g0108 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01255 | hp2 | a0001 | c0002 | t0001 | g0129 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01256 | hp1 | a0001 | c0001 | t0003 | g0172 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01256 | hp2 | a0001 | c0001 | t0006 | g0162 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01257 | hp1 | a0001 | c0001 | t0004 | g0073 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01257 | hp2 | a0001 | c0002 | t0001 | g0259 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01258 | hp1 | a0001 | c0001 | t0003 | g0060 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01258 | hp2 | a0001 | c0001 | t0004 | g0200 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01261 | hp1 | a0001 | c0001 | t0003 | g0222 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01261 | hp2 | a0001 | c0002 | t0013 | g0177 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01361 | hp1 | a0001 | c0002 | t0001 | g0112 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01361 | hp2 | a0001 | c0001 | t0044 | g0021 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01496 | hp1 | a0001 | c0002 | t0001 | g0223 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01496 | hp2 | a0001 | c0002 | t0001 | g0024 | AMR | CLM | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01515 | hp1 | a0001 | c0002 | t0001 | g0046 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01515 | hp2 | a0001 | c0001 | t0010 | g0220 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01516 | hp1 | a0001 | c0002 | t0001 | g0250 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01516 | hp2 | a0001 | c0001 | t0002 | g0002 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01517 | hp1 | a0001 | c0001 | t0010 | g0221 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01517 | hp2 | a0001 | c0001 | t0002 | g0002 | EUR | IBS | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01884 | hp1 | a0001 | c0001 | t0008 | g0013 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01884 | hp2 | a0001 | c0001 | t0002 | g0050 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01934 | hp1 | a0001 | c0002 | t0001 | g0057 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01934 | hp2 | a0001 | c0001 | t0004 | g0216 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01952 | hp1 | a0001 | c0001 | t0009 | g0043 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01952 | hp2 | a0001 | c0002 | t0001 | g0041 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01978 | hp1 | a0001 | c0001 | t0051 | g0133 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01978 | hp2 | a0001 | c0002 | t0058 | g0135 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01981 | hp1 | a0001 | c0002 | t0001 | g0065 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG01981 | hp2 | a0001 | c0001 | t0043 | g0225 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02004 | hp1 | a0001 | c0002 | t0001 | g0169 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02004 | hp2 | a0001 | c0001 | t0003 | g0128 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02027 | hp1 | a0001 | c0001 | t0004 | g0173 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02027 | hp2 | a0001 | c0001 | t0050 | g0186 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02055 | hp1 | a0001 | c0002 | t0001 | g0240 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02055 | hp2 | a0001 | c0001 | t0005 | g0023 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02056 | hp1 | a0001 | c0002 | t0001 | g0175 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02056 | hp2 | a0001 | c0002 | t0003 | g0117 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02071 | hp1 | a0001 | c0002 | t0001 | g0037 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02071 | hp2 | a0001 | c0002 | t0057 | g0071 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02074 | hp1 | a0001 | c0001 | t0003 | g0126 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02083 | hp1 | a0001 | c0002 | t0001 | g0196 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02083 | hp2 | a0001 | c0002 | t0001 | g0082 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02129 | hp1 | a0001 | c0001 | t0003 | g0042 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0249 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02132 | hp1 | a0001 | c0002 | t0001 | g0235 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02132 | hp2 | a0001 | c0002 | t0001 | g0034 | EAS | KHV | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02145 | hp1 | a0001 | c0001 | t0008 | g0255 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02145 | hp2 | a0001 | c0001 | t0020 | g0262 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02257 | hp1 | a0001 | c0001 | t0042 | g0244 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02257 | hp2 | a0001 | c0002 | t0001 | g0140 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02258 | hp1 | a0001 | c0001 | t0005 | g0006 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02258 | hp2 | a0001 | c0001 | t0003 | g0198 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02280 | hp1 | a0001 | c0003 | t0005 | g0052 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02280 | hp2 | a0001 | c0001 | t0004 | g0075 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02293 | hp1 | a0001 | c0002 | t0003 | g0062 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02293 | hp2 | a0001 | c0002 | t0001 | g0233 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02300 | hp1 | a0001 | c0002 | t0013 | g0218 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02300 | hp2 | a0001 | c0001 | t0002 | g0064 | AMR | PEL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02451 | hp1 | a0001 | c0001 | t0011 | g0072 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0243 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02572 | hp1 | a0001 | c0001 | t0012 | g0143 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02572 | hp2 | a0001 | c0001 | t0007 | g0090 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02602 | hp1 | a0001 | c0001 | t0048 | g0131 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02602 | hp2 | a0001 | c0002 | t0001 | g0247 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02615 | hp1 | a0001 | c0001 | t0004 | g0212 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02615 | hp2 | a0001 | c0002 | t0059 | g0265 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02622 | hp1 | a0001 | c0001 | t0008 | g0253 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02622 | hp2 | a0001 | c0001 | t0006 | g0188 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02630 | hp1 | a0001 | c0001 | t0005 | g0241 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02630 | hp2 | a0001 | c0001 | t0004 | g0026 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02647 | hp1 | a0001 | c0001 | t0035 | g0114 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02647 | hp2 | a0001 | c0001 | t0002 | g0027 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02683 | hp1 | a0001 | c0002 | t0023 | g0193 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02683 | hp2 | a0001 | c0001 | t0009 | g0165 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02717 | hp1 | a0001 | c0001 | t0007 | g0113 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02717 | hp2 | a0001 | c0001 | t0008 | g0035 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02723 | hp1 | a0001 | c0001 | t0017 | g0269 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02723 | hp2 | a0001 | c0001 | t0005 | g0070 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02738 | hp1 | a0001 | c0001 | t0018 | g0025 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02738 | hp2 | a0001 | c0002 | t0023 | g0095 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02809 | hp1 | a0001 | c0001 | t0011 | g0089 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02809 | hp2 | a0001 | c0001 | t0005 | g0167 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02818 | hp1 | a0001 | c0001 | t0011 | g0266 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02818 | hp2 | a0001 | c0001 | t0008 | g0264 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0150 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02886 | hp2 | a0001 | c0001 | t0007 | g0199 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02895 | hp1 | a0001 | c0001 | t0007 | g0268 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02895 | hp2 | a0001 | c0002 | t0001 | g0254 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02896 | hp1 | a0001 | c0001 | t0007 | g0076 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02896 | hp2 | a0001 | c0001 | t0011 | g0069 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02922 | hp1 | a0001 | c0001 | t0019 | g0010 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02922 | hp2 | a0001 | c0001 | t0053 | g0077 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02965 | hp1 | a0001 | c0003 | t0012 | g0205 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02965 | hp2 | a0001 | c0001 | t0005 | g0009 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02970 | hp1 | a0001 | c0001 | t0008 | g0087 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02970 | hp2 | a0001 | c0001 | t0004 | g0239 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02976 | hp1 | a0001 | c0001 | t0033 | g0038 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02976 | hp2 | a0001 | c0002 | t0001 | g0194 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03017 | hp1 | a0001 | c0002 | t0001 | g0047 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03017 | hp2 | a0001 | c0001 | t0006 | g0127 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03041 | hp1 | a0001 | c0001 | t0007 | g0051 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03041 | hp2 | a0001 | c0001 | t0009 | g0227 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03098 | hp1 | a0001 | c0001 | t0011 | g0012 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03098 | hp2 | a0001 | c0001 | t0017 | g0147 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03130 | hp1 | a0001 | c0001 | t0008 | g0007 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03130 | hp2 | a0001 | c0001 | t0005 | g0141 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03139 | hp1 | a0001 | c0001 | t0040 | g0085 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03139 | hp2 | a0001 | c0001 | t0005 | g0148 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03195 | hp1 | a0001 | c0001 | t0008 | g0078 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03195 | hp2 | a0001 | c0001 | t0020 | g0151 | AFR | ESN | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03209 | hp1 | a0001 | c0001 | t0005 | g0238 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03209 | hp2 | a0001 | c0001 | t0039 | g0005 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03225 | hp1 | a0001 | c0001 | t0007 | g0242 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03225 | hp2 | a0001 | c0001 | t0005 | g0031 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03239 | hp1 | a0001 | c0002 | t0001 | g0215 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0149 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0159 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03453 | hp2 | a0001 | c0002 | t0001 | g0152 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0232 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03486 | hp2 | a0001 | c0001 | t0004 | g0226 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0187 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03490 | hp2 | a0001 | c0002 | t0003 | g0256 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03491 | hp1 | a0001 | c0002 | t0001 | g0231 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03491 | hp2 | a0001 | c0001 | t0006 | g0001 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03492 | hp1 | a0001 | c0001 | t0006 | g0001 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03492 | hp2 | a0001 | c0002 | t0003 | g0214 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03540 | hp1 | a0001 | c0001 | t0005 | g0160 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03540 | hp2 | a0001 | c0001 | t0011 | g0093 | AFR | GWD | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03579 | hp1 | a0001 | c0001 | t0061 | g0104 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03579 | hp2 | a0001 | c0001 | t0002 | g0008 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03654 | hp1 | a0001 | c0002 | t0001 | g0119 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03654 | hp2 | a0001 | c0002 | t0062 | g0015 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0157 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03704 | hp2 | a0001 | c0001 | t0006 | g0001 | SAS | PJL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03831 | hp1 | a0001 | c0002 | t0060 | g0144 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03831 | hp2 | a0001 | c0002 | t0001 | g0229 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03834 | hp1 | a0001 | c0001 | t0047 | g0161 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03834 | hp2 | a0001 | c0001 | t0003 | g0154 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0155 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03942 | hp2 | a0001 | c0001 | t0003 | g0016 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04184 | hp1 | a0001 | c0001 | t0004 | g0163 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04184 | hp2 | a0001 | c0002 | t0022 | g0164 | SAS | BEB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04199 | hp1 | a0001 | c0002 | t0001 | g0100 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04199 | hp2 | a0001 | c0001 | t0036 | g0020 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04204 | hp1 | a0001 | c0001 | t0003 | g0014 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04204 | hp2 | a0001 | c0002 | t0001 | g0246 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04228 | hp1 | a0001 | c0002 | t0001 | g0049 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG04228 | hp2 | a0001 | c0001 | t0006 | g0101 | SAS | STU | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18522 | hp1 | a0001 | c0001 | t0012 | g0153 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18522 | hp2 | a0001 | c0001 | t0030 | g0207 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18612 | hp1 | a0001 | c0002 | t0001 | g0092 | EAS | CHB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18612 | hp2 | a0001 | c0001 | t0004 | g0045 | EAS | CHB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18747 | hp1 | a0001 | c0001 | t0015 | g0134 | EAS | CHB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18747 | hp2 | a0001 | c0002 | t0001 | g0132 | EAS | CHB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18906 | hp1 | a0001 | c0001 | t0005 | g0245 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18906 | hp2 | a0002 | c0005 | t0041 | g0139 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18939 | hp1 | a0001 | c0002 | t0001 | g0107 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18939 | hp2 | a0001 | c0002 | t0003 | g0174 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18944 | hp1 | a0001 | c0001 | t0002 | g0182 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0258 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18945 | hp1 | a0001 | c0001 | t0015 | g0091 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18945 | hp2 | a0001 | c0001 | t0002 | g0195 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18950 | hp1 | a0001 | c0002 | t0056 | g0181 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18950 | hp2 | a0001 | c0001 | t0004 | g0106 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0201 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18951 | hp2 | a0001 | c0002 | t0001 | g0180 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18956 | hp1 | a0001 | c0002 | t0003 | g0017 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18956 | hp2 | a0001 | c0001 | t0045 | g0210 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18959 | hp1 | a0001 | c0002 | t0001 | g0056 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18959 | hp2 | a0001 | c0001 | t0002 | g0066 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18979 | hp1 | a0001 | c0002 | t0001 | g0176 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18979 | hp2 | a0001 | c0001 | t0003 | g0158 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18980 | hp1 | a0001 | c0004 | t0025 | g0083 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18980 | hp2 | a0001 | c0001 | t0015 | g0068 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18983 | hp1 | a0001 | c0001 | t0003 | g0084 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18983 | hp2 | a0001 | c0002 | t0022 | g0183 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18984 | hp1 | a0001 | c0001 | t0049 | g0033 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18984 | hp2 | a0001 | c0001 | t0002 | g0170 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18985 | hp1 | a0001 | c0002 | t0001 | g0213 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18985 | hp2 | a0001 | c0002 | t0001 | g0137 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18987 | hp1 | a0001 | c0001 | t0004 | g0018 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18987 | hp2 | a0001 | c0002 | t0001 | g0105 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18988 | hp1 | a0001 | c0002 | t0001 | g0061 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18988 | hp2 | a0001 | c0001 | t0002 | g0234 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18993 | hp1 | a0001 | c0002 | t0001 | g0098 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18993 | hp2 | a0001 | c0001 | t0004 | g0039 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18999 | hp1 | a0001 | c0002 | t0001 | g0032 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA18999 | hp2 | a0001 | c0001 | t0002 | g0074 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19009 | hp1 | a0001 | c0002 | t0001 | g0099 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19009 | hp2 | a0001 | c0001 | t0003 | g0096 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19011 | hp1 | a0001 | c0001 | t0003 | g0063 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19011 | hp2 | a0001 | c0002 | t0001 | g0116 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19030 | hp1 | a0001 | c0006 | t0052 | g0261 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19030 | hp2 | a0001 | c0001 | t0021 | g0028 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19043 | hp1 | a0001 | c0001 | t0027 | g0192 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19043 | hp2 | a0001 | c0002 | t0001 | g0202 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19063 | hp1 | a0001 | c0002 | t0001 | g0044 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19063 | hp2 | a0001 | c0001 | t0004 | g0184 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19074 | hp1 | a0001 | c0001 | t0002 | g0036 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19074 | hp2 | a0001 | c0002 | t0001 | g0248 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19079 | hp1 | a0001 | c0002 | t0001 | g0179 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19079 | hp2 | a0001 | c0001 | t0003 | g0059 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19082 | hp1 | a0001 | c0002 | t0025 | g0145 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19082 | hp2 | a0001 | c0002 | t0001 | g0257 | EAS | JPT | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19240 | hp1 | a0001 | c0001 | t0038 | g0103 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA19240 | hp2 | a0001 | c0001 | t0014 | g0004 | AFR | YRI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20129 | hp1 | a0001 | c0001 | t0004 | g0142 | AFR | ASW | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20129 | hp2 | a0001 | c0001 | t0018 | g0054 | AFR | ASW | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20752 | hp1 | a0001 | c0001 | t0032 | g0211 | EUR | TSI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20752 | hp2 | a0001 | c0001 | t0009 | g0109 | EUR | TSI | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20905 | hp1 | a0001 | c0001 | t0006 | g0236 | SAS | GIH | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20905 | hp2 | a0001 | c0002 | t0026 | g0053 | SAS | GIH | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02109 | hp1 | a0001 | c0001 | t0007 | g0003 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02109 | hp2 | a0001 | c0001 | t0021 | g0086 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02486 | hp1 | a0001 | c0001 | t0063 | g0189 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02486 | hp2 | a0001 | c0001 | t0002 | g0204 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02559 | hp1 | a0001 | c0001 | t0037 | g0168 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG02559 | hp2 | a0001 | c0001 | t0008 | g0011 | AFR | ACB | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03471 | hp1 | a0001 | c0001 | t0054 | g0191 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG03471 | hp2 | a0001 | c0001 | t0031 | g0237 | AFR | MSL | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG06807 | hp1 | a0001 | c0002 | t0001 | g0203 | AFR | USA | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| HG06807 | hp2 | a0001 | c0001 | t0028 | g0081 | AFR | USA | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20300 | hp1 | a0001 | c0001 | t0034 | g0079 | AFR | USA | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA20300 | hp2 | a0001 | c0002 | t0013 | g0067 | AFR | USA | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA21309 | hp1 | a0001 | c0001 | t0009 | g0048 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| NA21309 | hp2 | a0001 | c0001 | t0046 | g0267 | AFR | LWK | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0003 | g0110 | REF | REF | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0010 | g0111 | REF | REF | BACE2_chr21_41163160_41287530 | BACE2 | chr21 | 41163160 | 41287530 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:41275499 | G | A | 1 | a0002 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.1432G>A | p.Val478Ile | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1536/8567 | 1432/1557 | 478/518 | chr21 | 41275499 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:41168362 | C | G | 1 | a0001c0006 | 1 | NA19030.hp1 | synonymous_variant | LOW | c.99C>G | p.Leu33Leu | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/9 | 203/8567 | 99/1557 | 33/518 | chr21 | 41168362 | |||
| chr21:41168374 | G | A | 1 | a0001c0003 | 2 | HG02280.hp1 HG02965.hp1 |
synonymous_variant | LOW | c.111G>A | p.Ala37Ala | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/9 | 215/8567 | 111/1557 | 37/518 | chr21 | 41168374 | |||
| chr21:41246033 | G | A | 1 | a0001c0004 | 1 | NA18980.hp1 | synonymous_variant | LOW | c.954G>A | p.Ala318Ala | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/9 | 1058/8567 | 954/1557 | 318/518 | chr21 | 41246033 | |||
| chr21:41250859 | C | T | 2 | a0001c0002 a0001c0004 |
89 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(86): Show |
synonymous_variant | LOW | c.1092C>T | p.Asp364Asp | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/9 | 1196/8567 | 1092/1557 | 364/518 | chr21 | 41250859 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:41168207 | T | A | 1 | a0001c0002t0026 | 1 | NA20905.hp2 | 5_prime_UTR_variant | MODIFIER | c.-57T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/9 | 57 | chr21 | 41168207 | ||||||
| chr21:41168246 | C | G | 1 | a0001c0001t0063 | 1 | HG02486.hp1 | 5_prime_UTR_variant | MODIFIER | c.-18C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/9 | 18 | chr21 | 41168246 | ||||||
| chr21:41275646 | C | G | 1 | a0001c0001t0016 | 3 | HG01069.hp1 HG01071.hp1 HG01074.hp1 |
3_prime_UTR_variant | MODIFIER | c.*22C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 22 | chr21 | 41275646 | ||||||
| chr21:41275651 | A | G | 1 | a0001c0002t0062 | 1 | HG03654.hp2 | 3_prime_UTR_variant | MODIFIER | c.*27A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 27 | chr21 | 41275651 | ||||||
| chr21:41275794 | C | A | 1 | a0001c0001t0027 | 1 | NA19043.hp1 | 3_prime_UTR_variant | MODIFIER | c.*170C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 170 | chr21 | 41275794 | ||||||
| chr21:41275832 | T | TA | 9 | a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 others(6): Show |
14 | HG00741.hp2 HG01106.hp2 HG01167.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*218dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 219 | INFO_REALIGN_3_PRIME | chr21 | 41275832 | |||||
| chr21:41275833 | A | T | 2 | a0001c0002t0025 a0001c0004t0025 |
2 | NA18980.hp1 NA19082.hp1 |
3_prime_UTR_variant | MODIFIER | c.*209A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 209 | chr21 | 41275833 | ||||||
| chr21:41275894 | C | T | 19 | a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 others(16): Show |
96 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
3_prime_UTR_variant | MODIFIER | c.*270C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 270 | chr21 | 41275894 | ||||||
| chr21:41276033 | T | G | 1 | a0001c0001t0028 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*409T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 409 | chr21 | 41276033 | ||||||
| chr21:41276034 | A | T | 1 | a0001c0001t0028 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*410A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 410 | chr21 | 41276034 | ||||||
| chr21:41276352 | G | A | 1 | a0001c0001t0014 | 3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*728G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 728 | chr21 | 41276352 | ||||||
| chr21:41276652 | A | C | 2 | a0001c0001t0053 a0001c0001t0054 |
2 | HG02922.hp2 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1028A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1028 | chr21 | 41276652 | ||||||
| chr21:41276840 | C | T | 50 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show |
197 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(194): Show |
3_prime_UTR_variant | MODIFIER | c.*1216C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1216 | chr21 | 41276840 | ||||||
| chr21:41276854 | T | A | 2 | a0001c0001t0040 a0002c0005t0041 |
2 | HG03139.hp1 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1230T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1230 | chr21 | 41276854 | ||||||
| chr21:41276894 | T | G | 20 | a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(17): Show |
100 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(97): Show |
3_prime_UTR_variant | MODIFIER | c.*1270T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1270 | chr21 | 41276894 | ||||||
| chr21:41277013 | T | C | 2 | a0001c0001t0014 a0001c0001t0017 |
5 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1389T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1389 | chr21 | 41277013 | ||||||
| chr21:41277084 | T | TC | 45 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show |
190 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(187): Show |
3_prime_UTR_variant | MODIFIER | c.*1460_*1461insC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1461 | chr21 | 41277084 | ||||||
| chr21:41277088 | T | G | 2 | a0001c0001t0006 a0001c0001t0033 |
12 | HG01099.hp2 HG01192.hp2 HG01255.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*1464T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1464 | chr21 | 41277088 | ||||||
| chr21:41277127 | G | A | 2 | a0001c0001t0007 a0001c0001t0034 |
11 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1503G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1503 | chr21 | 41277127 | ||||||
| chr21:41277135 | T | A | 1 | a0001c0002t0022 | 2 | HG04184.hp2 NA18983.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1511T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1511 | chr21 | 41277135 | ||||||
| chr21:41277284 | A | G | 8 | a0001c0001t0003 a0001c0001t0048 a0001c0001t0049 others(5): Show |
28 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*1660A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1660 | chr21 | 41277284 | ||||||
| chr21:41277430 | C | T | 50 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show |
197 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(194): Show |
3_prime_UTR_variant | MODIFIER | c.*1806C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1806 | chr21 | 41277430 | ||||||
| chr21:41277467 | C | T | 1 | a0001c0001t0051 | 1 | HG01978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1843C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1843 | chr21 | 41277467 | ||||||
| chr21:41277521 | C | T | 1 | a0001c0001t0017 | 2 | HG02723.hp1 HG03098.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1897C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 1897 | chr21 | 41277521 | ||||||
| chr21:41277816 | G | A | 2 | a0001c0001t0008 a0001c0001t0035 |
10 | HG01884.hp1 HG02145.hp1 HG02559.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*2192G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2192 | chr21 | 41277816 | ||||||
| chr21:41277918 | C | T | 1 | a0001c0001t0019 | 2 | HG01109.hp1 HG02922.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2294C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2294 | chr21 | 41277918 | ||||||
| chr21:41277947 | G | A | 1 | a0001c0002t0055 | 1 | HG00642.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2323G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2323 | chr21 | 41277947 | ||||||
| chr21:41278026 | C | T | 1 | a0001c0001t0031 | 1 | HG03471.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2402C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2402 | chr21 | 41278026 | ||||||
| chr21:41278153 | C | T | 1 | a0001c0001t0047 | 1 | HG03834.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2529C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2529 | chr21 | 41278153 | ||||||
| chr21:41278409 | A | C | 1 | a0001c0001t0028 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2785A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2785 | chr21 | 41278409 | ||||||
| chr21:41278554 | C | T | 1 | a0001c0001t0028 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2930C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 2930 | chr21 | 41278554 | ||||||
| chr21:41278727 | A | G | 19 | a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 others(16): Show |
96 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
3_prime_UTR_variant | MODIFIER | c.*3103A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3103 | chr21 | 41278727 | ||||||
| chr21:41278739 | G | A | 1 | a0001c0001t0006 | 11 | HG01099.hp2 HG01192.hp2 HG01255.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*3115G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3115 | chr21 | 41278739 | ||||||
| chr21:41278830 | C | T | 1 | a0002c0005t0041 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3206C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3206 | chr21 | 41278830 | ||||||
| chr21:41279032 | G | GT | 12 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(9): Show |
48 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(45): Show |
3_prime_UTR_variant | MODIFIER | c.*3416dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3417 | INFO_REALIGN_3_PRIME | chr21 | 41279032 | |||||
| chr21:41279058 | C | T | 1 | a0001c0001t0046 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3434C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3434 | chr21 | 41279058 | ||||||
| chr21:41279114 | C | T | 1 | a0001c0002t0058 | 1 | HG01978.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3490C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3490 | chr21 | 41279114 | ||||||
| chr21:41279182 | A | G | 1 | a0001c0001t0014 | 3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3558A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3558 | chr21 | 41279182 | ||||||
| chr21:41279520 | C | T | 2 | a0001c0001t0036 a0001c0002t0024 |
3 | HG01168.hp2 HG01169.hp1 HG04199.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3896C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3896 | chr21 | 41279520 | ||||||
| chr21:41279553 | C | A | 4 | a0001c0001t0003 a0001c0001t0048 a0001c0001t0049 others(1): Show |
24 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*3929C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3929 | chr21 | 41279553 | ||||||
| chr21:41279554 | G | A | 18 | a0001c0001t0001 a0001c0001t0013 a0001c0001t0016 others(15): Show |
94 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(91): Show |
3_prime_UTR_variant | MODIFIER | c.*3930G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3930 | chr21 | 41279554 | ||||||
| chr21:41279568 | G | A | 3 | a0001c0001t0004 a0001c0001t0015 a0001c0001t0042 |
23 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*3944G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 3944 | chr21 | 41279568 | ||||||
| chr21:41279635 | T | C | 31 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show |
153 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(150): Show |
3_prime_UTR_variant | MODIFIER | c.*4011T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4011 | chr21 | 41279635 | ||||||
| chr21:41279670 | T | C | 1 | a0001c0002t0062 | 1 | HG03654.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4046T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4046 | chr21 | 41279670 | ||||||
| chr21:41279686 | T | G | 1 | a0001c0001t0043 | 1 | HG01981.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4062T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4062 | chr21 | 41279686 | ||||||
| chr21:41279728 | G | A | 1 | a0001c0001t0015 | 3 | NA18747.hp1 NA18945.hp1 NA18980.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4104G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4104 | chr21 | 41279728 | ||||||
| chr21:41279796 | G | A | 1 | a0001c0001t0053 | 1 | HG02922.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4172G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4172 | chr21 | 41279796 | ||||||
| chr21:41279962 | A | G | 3 | a0001c0001t0014 a0001c0001t0017 a0001c0001t0039 |
6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*4338A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4338 | chr21 | 41279962 | ||||||
| chr21:41280019 | T | C | 4 | a0001c0001t0004 a0001c0001t0015 a0001c0001t0019 others(1): Show |
25 | HG00408.hp1 HG01074.hp2 HG01109.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*4395T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4395 | chr21 | 41280019 | ||||||
| chr21:41280044 | T | C | 1 | a0001c0001t0044 | 1 | HG01361.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4420T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4420 | chr21 | 41280044 | ||||||
| chr21:41280225 | G | A | 1 | a0002c0005t0041 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4601G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4601 | chr21 | 41280225 | ||||||
| chr21:41280320 | T | C | 1 | a0001c0002t0056 | 1 | NA18950.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4696T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 4696 | chr21 | 41280320 | ||||||
| chr21:41280700 | G | A | 1 | a0001c0001t0029 | 1 | HG01106.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5076G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5076 | chr21 | 41280700 | ||||||
| chr21:41280790 | C | T | 8 | a0001c0001t0002 a0001c0001t0027 a0001c0001t0043 others(5): Show |
31 | HG00408.hp2 HG01069.hp2 HG01243.hp2 others(28): Show |
3_prime_UTR_variant | MODIFIER | c.*5166C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5166 | chr21 | 41280790 | ||||||
| chr21:41280904 | C | T | 13 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 others(10): Show |
36 | HG00741.hp2 HG01099.hp2 HG01106.hp2 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*5280C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5280 | chr21 | 41280904 | ||||||
| chr21:41281087 | C | T | 1 | a0001c0001t0042 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5463C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5463 | chr21 | 41281087 | ||||||
| chr21:41281159 | C | A | 2 | a0001c0001t0020 a0001c0001t0021 |
4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5535C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5535 | chr21 | 41281159 | ||||||
| chr21:41281194 | A | G | 37 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(34): Show |
158 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(155): Show |
3_prime_UTR_variant | MODIFIER | c.*5570A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5570 | chr21 | 41281194 | ||||||
| chr21:41281195 | A | G | 1 | a0001c0001t0018 | 2 | HG02738.hp1 NA20129.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5571A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5571 | chr21 | 41281195 | ||||||
| chr21:41281252 | T | A | 1 | a0001c0001t0051 | 1 | HG01978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5628T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5628 | chr21 | 41281252 | ||||||
| chr21:41281310 | A | G | 36 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(33): Show |
156 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(153): Show |
3_prime_UTR_variant | MODIFIER | c.*5686A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5686 | chr21 | 41281310 | ||||||
| chr21:41281317 | C | CA | 2 | a0001c0001t0020 a0001c0001t0021 |
4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5694dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5695 | INFO_REALIGN_3_PRIME | chr21 | 41281317 | |||||
| chr21:41281319 | C | T | 6 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0033 others(3): Show |
27 | HG01099.hp2 HG01192.hp2 HG01255.hp1 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*5695C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5695 | chr21 | 41281319 | ||||||
| chr21:41281333 | G | A | 2 | a0001c0001t0051 a0002c0005t0041 |
2 | HG01978.hp1 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5709G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5709 | chr21 | 41281333 | ||||||
| chr21:41281362 | G | A | 36 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(33): Show |
156 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(153): Show |
3_prime_UTR_variant | MODIFIER | c.*5738G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5738 | chr21 | 41281362 | ||||||
| chr21:41281375 | A | C | 1 | a0001c0002t0062 | 1 | HG03654.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5751A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5751 | chr21 | 41281375 | ||||||
| chr21:41281507 | A | T | 36 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(33): Show |
156 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(153): Show |
3_prime_UTR_variant | MODIFIER | c.*5883A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5883 | chr21 | 41281507 | ||||||
| chr21:41281541 | C | T | 36 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(33): Show |
156 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(153): Show |
3_prime_UTR_variant | MODIFIER | c.*5917C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5917 | chr21 | 41281541 | ||||||
| chr21:41281543 | T | C | 1 | a0001c0001t0045 | 1 | NA18956.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5919T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5919 | chr21 | 41281543 | ||||||
| chr21:41281552 | C | T | 6 | a0001c0001t0007 a0001c0001t0011 a0001c0001t0028 others(3): Show |
20 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*5928C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5928 | chr21 | 41281552 | ||||||
| chr21:41281601 | A | C | 1 | a0001c0001t0021 | 2 | HG02109.hp2 NA19030.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5977A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5977 | chr21 | 41281601 | ||||||
| chr21:41281608 | C | T | 4 | a0001c0001t0013 a0001c0001t0032 a0001c0002t0013 others(1): Show |
6 | HG01081.hp2 HG01261.hp2 HG01978.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*5984C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 5984 | chr21 | 41281608 | ||||||
| chr21:41281640 | T | C | 37 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(34): Show |
157 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
3_prime_UTR_variant | MODIFIER | c.*6016T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6016 | chr21 | 41281640 | ||||||
| chr21:41281722 | C | A | 67 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(64): Show |
263 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(260): Show |
3_prime_UTR_variant | MODIFIER | c.*6098C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6098 | chr21 | 41281722 | ||||||
| chr21:41281831 | A | T | 1 | a0001c0001t0037 | 1 | HG02559.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6207A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6207 | chr21 | 41281831 | ||||||
| chr21:41281834 | T | A | 3 | a0001c0001t0012 a0001c0001t0030 a0001c0003t0012 |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*6210T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6210 | chr21 | 41281834 | ||||||
| chr21:41281853 | C | G | 1 | a0001c0001t0049 | 1 | NA18984.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6229C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6229 | chr21 | 41281853 | ||||||
| chr21:41281880 | G | A | 1 | a0001c0001t0040 | 1 | HG03139.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6256G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6256 | chr21 | 41281880 | ||||||
| chr21:41281907 | G | A | 2 | a0001c0001t0051 a0002c0005t0041 |
2 | HG01978.hp1 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*6283G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6283 | chr21 | 41281907 | ||||||
| chr21:41281911 | G | A | 1 | a0001c0001t0038 | 1 | NA19240.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6287G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6287 | chr21 | 41281911 | ||||||
| chr21:41282247 | A | T | 1 | a0001c0001t0048 | 1 | HG02602.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6623A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6623 | chr21 | 41282247 | ||||||
| chr21:41282396 | A | G | 1 | a0001c0002t0057 | 1 | HG02071.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6772A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6772 | chr21 | 41282396 | ||||||
| chr21:41282401 | C | T | 1 | a0002c0005t0041 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6777C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6777 | chr21 | 41282401 | ||||||
| chr21:41282452 | A | G | 2 | a0001c0002t0023 a0001c0002t0026 |
3 | HG02683.hp1 HG02738.hp2 NA20905.hp2 |
3_prime_UTR_variant | MODIFIER | c.*6828A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6828 | chr21 | 41282452 | ||||||
| chr21:41282514 | A | ATAAATAA others(78): Show |
1 | a0001c0001t0030 | 1 | NA18522.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6650_*6651insCCTG others(81): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 9/9 | 6651 | INFO_REALIGN_3_PRIME | chr21 | 41282514 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:41168633 | TC | T | 11 | a0001c0001t0002g0008 a0001c0001t0005g0006 a0001c0001t0005g0009 others(8): Show |
11 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.312+60delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41168633 | ||||||
| chr21:41168639 | G | C | 1 | a0001c0001t0003g0014 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.312+64G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168639 | |||||||
| chr21:41168993 | C | CCG | 11 | a0001c0001t0002g0027 a0001c0001t0004g0018 a0001c0001t0004g0019 others(8): Show |
11 | HG01169.hp1 HG01175.hp1 HG01361.hp2 others(8): Show |
intron_variant | MODIFIER | c.312+418_312+419ins others(2): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168993 | |||||||
| chr21:41168993 | C | T | 3 | a0001c0001t0007g0268 a0001c0001t0017g0269 a0001c0001t0046g0267 |
3 | HG02723.hp1 HG02895.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.312+418C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168993 | |||||||
| chr21:41168994 | G | C | 15 | a0001c0001t0002g0027 a0001c0001t0003g0016 a0001c0001t0004g0018 others(12): Show |
15 | HG01169.hp1 HG01175.hp1 HG01361.hp2 others(12): Show |
intron_variant | MODIFIER | c.312+419G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168994 | |||||||
| chr21:41168994 | G | GC | 47 | a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0249 others(44): Show |
47 | HG00738.hp1 HG00738.hp2 HG01071.hp1 others(44): Show |
intron_variant | MODIFIER | c.312+429dupC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41168994 | ||||||
| chr21:41168994 | G | GCC | 16 | a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0008g0011 others(13): Show |
16 | HG00280.hp2 HG01168.hp1 HG01257.hp2 others(13): Show |
intron_variant | MODIFIER | c.312+428_312+429dup others(2): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41168994 | ||||||
| chr21:41168994 | GC | G | 58 | a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0050 others(55): Show |
59 | HG00741.hp1 HG01069.hp1 HG01070.hp2 others(56): Show |
intron_variant | MODIFIER | c.312+429delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41168994 | ||||||
| chr21:41168996 | C | A | 2 | a0001c0002t0001g0029 a0001c0002t0001g0030 |
2 | HG00741.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.312+421C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41168996 | |||||||
| chr21:41169005 | A | C | 1 | a0001c0002t0003g0017 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.312+430A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169005 | |||||||
| chr21:41169275 | A | T | 146 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0249 others(143): Show |
148 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(145): Show |
intron_variant | MODIFIER | c.312+700A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169275 | |||||||
| chr21:41169423 | A | G | 7 | a0001c0001t0007g0080 a0001c0001t0007g0208 a0001c0001t0008g0078 others(4): Show |
7 | HG01070.hp2 HG01071.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+848A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169423 | |||||||
| chr21:41169449 | G | GA | 13 | a0001c0001t0004g0142 a0001c0001t0005g0009 a0001c0001t0005g0141 others(10): Show |
13 | HG01106.hp2 HG02257.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.312+892dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41169449 | ||||||
| chr21:41169449 | G | GAA | 6 | a0001c0001t0005g0006 a0001c0001t0008g0011 a0001c0001t0011g0012 others(3): Show |
6 | HG02258.hp1 HG02559.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+891_312+892dup others(2): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41169449 | ||||||
| chr21:41169449 | GA | G | 62 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0002g0002 others(59): Show |
63 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(60): Show |
intron_variant | MODIFIER | c.312+892delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41169449 | ||||||
| chr21:41169517 | G | A | 8 | a0001c0001t0003g0228 a0001c0001t0004g0226 a0001c0001t0007g0113 others(5): Show |
8 | HG00738.hp2 HG01109.hp1 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+942G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169517 | |||||||
| chr21:41169621 | T | C | 1 | a0001c0001t0002g0204 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.312+1046T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41169621 | |||||||
| chr21:41170112 | G | A | 1 | a0001c0001t0005g0031 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.312+1537G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170112 | |||||||
| chr21:41170215 | C | CA | 250 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(247): Show |
253 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(250): Show |
intron_variant | MODIFIER | c.312+1651dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41170215 | ||||||
| chr21:41170248 | C | G | 24 | a0001c0001t0001g0258 a0001c0001t0002g0036 a0001c0001t0003g0096 others(21): Show |
24 | HG00408.hp1 HG00642.hp2 HG01081.hp1 others(21): Show |
intron_variant | MODIFIER | c.312+1673C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170248 | |||||||
| chr21:41170264 | A | G | 2 | a0001c0001t0006g0252 a0001c0001t0011g0093 |
2 | HG01099.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.312+1689A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170264 | |||||||
| chr21:41170277 | T | A | 54 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0002g0002 others(51): Show |
55 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(52): Show |
intron_variant | MODIFIER | c.312+1702T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170277 | |||||||
| chr21:41170345 | G | A | 1 | a0001c0001t0013g0115 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.312+1770G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170345 | |||||||
| chr21:41170540 | T | C | 2 | a0001c0001t0005g0148 a0001c0001t0017g0147 |
2 | HG03098.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.312+1965T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170540 | |||||||
| chr21:41170645 | T | C | 1 | a0001c0006t0052g0261 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.312+2070T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170645 | |||||||
| chr21:41170888 | A | T | 2 | a0001c0001t0007g0268 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.312+2313A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41170888 | |||||||
| chr21:41171060 | A | G | 136 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0249 others(133): Show |
138 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(135): Show |
intron_variant | MODIFIER | c.312+2485A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171060 | |||||||
| chr21:41171213 | C | T | 8 | a0001c0001t0003g0228 a0001c0001t0004g0226 a0001c0001t0007g0113 others(5): Show |
8 | HG00738.hp2 HG01109.hp1 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+2638C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171213 | |||||||
| chr21:41171217 | C | T | 5 | a0001c0001t0002g0150 a0001c0001t0012g0153 a0001c0001t0020g0151 others(2): Show |
5 | HG02055.hp1 HG02886.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+2642C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171217 | |||||||
| chr21:41171239 | T | A | 2 | a0001c0001t0006g0252 a0001c0001t0011g0093 |
2 | HG01099.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.312+2664T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171239 | |||||||
| chr21:41171325 | C | T | 2 | a0001c0001t0004g0039 a0001c0002t0001g0107 |
2 | NA18939.hp1 NA18993.hp2 |
intron_variant | MODIFIER | c.312+2750C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171325 | |||||||
| chr21:41171338 | T | G | 2 | a0001c0001t0005g0241 a0001c0006t0052g0261 |
2 | HG02630.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.312+2763T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171338 | |||||||
| chr21:41171390 | A | T | 2 | a0001c0001t0005g0148 a0001c0001t0017g0147 |
2 | HG03098.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.312+2815A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171390 | |||||||
| chr21:41171476 | C | G | 135 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0249 others(132): Show |
137 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(134): Show |
intron_variant | MODIFIER | c.312+2901C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171476 | |||||||
| chr21:41171486 | G | T | 3 | a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0058g0135 |
3 | HG00733.hp1 HG01978.hp2 NA18985.hp2 |
intron_variant | MODIFIER | c.312+2911G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171486 | |||||||
| chr21:41171534 | C | T | 2 | a0001c0002t0001g0092 a0001c0002t0001g0213 |
2 | NA18612.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.312+2959C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171534 | |||||||
| chr21:41171610 | C | T | 35 | a0001c0001t0001g0258 a0001c0001t0002g0002 a0001c0001t0002g0036 others(32): Show |
36 | HG00408.hp1 HG00642.hp2 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.312+3035C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171610 | |||||||
| chr21:41171639 | C | T | 2 | a0001c0001t0004g0106 a0001c0002t0001g0105 |
2 | NA18950.hp2 NA18987.hp2 |
intron_variant | MODIFIER | c.312+3064C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171639 | |||||||
| chr21:41171736 | C | T | 53 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0002g0149 others(50): Show |
53 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(50): Show |
intron_variant | MODIFIER | c.312+3161C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171736 | |||||||
| chr21:41171801 | T | A | 1 | a0001c0001t0002g0204 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.312+3226T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41171801 | |||||||
| chr21:41172052 | G | A | 1 | a0001c0001t0045g0210 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.312+3477G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172052 | |||||||
| chr21:41172088 | T | A | 1 | a0001c0001t0003g0154 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.312+3513T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172088 | |||||||
| chr21:41172191 | C | G | 1 | a0001c0001t0005g0031 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.312+3616C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172191 | |||||||
| chr21:41172218 | G | A | 1 | a0001c0001t0005g0031 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.312+3643G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172218 | |||||||
| chr21:41172259 | C | T | 1 | a0001c0002t0062g0015 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.312+3684C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172259 | |||||||
| chr21:41172293 | A | G | 5 | a0001c0001t0004g0142 a0001c0001t0004g0239 a0001c0001t0005g0141 others(2): Show |
5 | HG02572.hp1 HG02970.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+3718A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172293 | |||||||
| chr21:41172330 | G | C | 1 | a0001c0002t0001g0215 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.312+3755G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172330 | |||||||
| chr21:41172366 | G | T | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+3791G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172366 | |||||||
| chr21:41172548 | A | G | 5 | a0001c0001t0002g0150 a0001c0001t0012g0153 a0001c0001t0020g0151 others(2): Show |
5 | HG02055.hp1 HG02886.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+3973A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172548 | |||||||
| chr21:41172669 | A | G | 6 | a0001c0001t0004g0075 a0001c0001t0006g0252 a0001c0001t0011g0093 others(3): Show |
6 | HG01099.hp2 HG02280.hp2 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+4094A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172669 | |||||||
| chr21:41172743 | A | G | 1 | a0001c0001t0005g0148 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.312+4168A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172743 | |||||||
| chr21:41172902 | G | T | 1 | a0001c0002t0001g0049 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.312+4327G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172902 | |||||||
| chr21:41172948 | C | A | 5 | a0001c0001t0002g0150 a0001c0001t0012g0153 a0001c0001t0020g0151 others(2): Show |
5 | HG02055.hp1 HG02886.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+4373C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172948 | |||||||
| chr21:41172966 | G | C | 6 | a0001c0001t0004g0075 a0001c0001t0006g0252 a0001c0001t0011g0093 others(3): Show |
6 | HG01099.hp2 HG02280.hp2 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+4391G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41172966 | |||||||
| chr21:41173133 | G | A | 2 | a0001c0001t0005g0241 a0001c0006t0052g0261 |
2 | HG02630.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.312+4558G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173133 | |||||||
| chr21:41173323 | T | C | 140 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0249 others(137): Show |
142 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(139): Show |
intron_variant | MODIFIER | c.312+4748T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173323 | |||||||
| chr21:41173337 | C | T | 3 | a0001c0001t0002g0008 a0001c0001t0004g0073 a0001c0001t0004g0200 |
3 | HG01257.hp1 HG01258.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.312+4762C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173337 | |||||||
| chr21:41173512 | C | T | 3 | a0001c0001t0007g0199 a0001c0001t0011g0072 a0001c0001t0031g0237 |
3 | HG02451.hp1 HG02886.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.312+4937C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173512 | |||||||
| chr21:41173560 | A | G | 1 | a0001c0001t0005g0006 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.312+4985A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41173560 | |||||||
| chr21:41174015 | T | C | 1 | a0001c0001t0004g0239 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.312+5440T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174015 | |||||||
| chr21:41174029 | G | A | 1 | a0001c0002t0026g0053 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.312+5454G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174029 | |||||||
| chr21:41174110 | T | G | 252 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(249): Show |
254 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(251): Show |
intron_variant | MODIFIER | c.312+5535T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174110 | |||||||
| chr21:41174132 | C | G | 259 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(256): Show |
262 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(259): Show |
intron_variant | MODIFIER | c.312+5557C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174132 | |||||||
| chr21:41174138 | C | CT | 30 | a0001c0001t0001g0258 a0001c0001t0002g0074 a0001c0001t0002g0088 others(27): Show |
30 | HG00408.hp1 HG00741.hp2 HG01069.hp2 others(27): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(3): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTT | 14 | a0001c0001t0002g0050 a0001c0001t0003g0096 a0001c0001t0004g0018 others(11): Show |
14 | HG00642.hp2 HG01884.hp2 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTT | 3 | a0001c0001t0005g0241 a0001c0001t0012g0143 a0001c0006t0052g0261 |
3 | HG02572.hp1 HG02630.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.312+5563_312+5564i others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(3): Show |
2 | a0001c0001t0005g0009 a0001c0001t0017g0147 |
2 | HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.312+5563_312+5564i others(12): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(5): Show |
1 | a0001c0001t0007g0199 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(14): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(6): Show |
1 | a0001c0001t0030g0207 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(15): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(7): Show |
13 | a0001c0001t0002g0159 a0001c0001t0002g0243 a0001c0001t0004g0226 others(10): Show |
13 | HG02071.hp2 HG02451.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(16): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(8): Show |
22 | a0001c0001t0001g0187 a0001c0001t0003g0228 a0001c0001t0004g0073 others(19): Show |
22 | HG00738.hp2 HG01070.hp2 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(17): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(9): Show |
19 | a0001c0001t0001g0263 a0001c0001t0002g0008 a0001c0001t0003g0059 others(16): Show |
19 | HG00280.hp2 HG00642.hp1 HG01071.hp2 others(16): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(18): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(10): Show |
10 | a0001c0001t0001g0171 a0001c0001t0002g0190 a0001c0001t0004g0163 others(7): Show |
10 | HG01167.hp2 HG01243.hp2 HG01256.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(19): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(11): Show |
5 | a0001c0001t0003g0198 a0001c0001t0006g0252 a0001c0001t0014g0197 others(2): Show |
5 | HG01099.hp2 HG01169.hp2 HG02258.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(20): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(12): Show |
4 | a0001c0001t0002g0027 a0001c0001t0002g0195 a0001c0001t0004g0075 others(1): Show |
4 | HG02280.hp2 HG02647.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(21): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(13): Show |
1 | a0001c0001t0003g0016 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(22): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(15): Show |
4 | a0001c0001t0027g0192 a0001c0002t0001g0169 a0001c0002t0001g0203 others(1): Show |
4 | HG02004.hp1 HG06807.hp1 NA18939.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(24): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(16): Show |
12 | a0001c0001t0001g0249 a0001c0001t0002g0170 a0001c0001t0002g0178 others(9): Show |
12 | HG00408.hp2 HG01070.hp1 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(25): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(17): Show |
11 | a0001c0001t0002g0066 a0001c0001t0002g0182 a0001c0001t0003g0154 others(8): Show |
11 | HG01981.hp1 HG02027.hp2 HG03491.hp2 others(8): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(26): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(18): Show |
5 | a0001c0001t0006g0001 a0001c0002t0001g0116 a0001c0002t0001g0175 others(2): Show |
5 | HG01261.hp2 HG02056.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+5563_312+5564i others(27): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(22): Show |
1 | a0001c0001t0004g0184 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(31): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(24): Show |
1 | a0001c0002t0003g0062 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.312+5563_312+5564i others(33): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | C | CTTTTTTT others(26): Show |
1 | a0001c0001t0002g0064 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.312+5563_312+5564i others(35): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | CCT | C | 4 | a0001c0001t0002g0204 a0001c0001t0008g0011 a0001c0001t0021g0086 others(1): Show |
4 | HG02109.hp2 HG02486.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+5564_312+5565d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174138 | CCTTTTT | C | 3 | a0001c0001t0007g0003 a0001c0003t0005g0052 a0001c0003t0012g0205 |
3 | HG02109.hp1 HG02280.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.312+5564_312+5569d others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174138 | |||||||
| chr21:41174139 | C | CT | 9 | a0001c0001t0003g0014 a0001c0001t0004g0142 a0001c0001t0004g0239 others(6): Show |
9 | HG01361.hp1 HG01978.hp1 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.312+5589dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41174139 | ||||||
| chr21:41174139 | C | T | 166 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0249 others(163): Show |
168 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(165): Show |
intron_variant | MODIFIER | c.312+5564C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174139 | |||||||
| chr21:41174175 | G | A | 1 | a0001c0001t0003g0158 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.312+5600G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174175 | |||||||
| chr21:41174254 | T | C | 41 | a0001c0001t0001g0258 a0001c0001t0002g0036 a0001c0001t0002g0074 others(38): Show |
41 | HG00408.hp1 HG00642.hp2 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.312+5679T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174254 | |||||||
| chr21:41174416 | C | T | 1 | a0001c0006t0052g0261 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.312+5841C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174416 | |||||||
| chr21:41174432 | C | T | 6 | a0001c0001t0002g0027 a0001c0001t0003g0198 a0001c0001t0005g0148 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+5857C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174432 | |||||||
| chr21:41174493 | A | G | 6 | a0001c0001t0005g0031 a0001c0001t0005g0238 a0001c0001t0007g0051 others(3): Show |
6 | HG02717.hp2 HG02818.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+5918A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174493 | |||||||
| chr21:41174519 | T | C | 2 | a0001c0001t0039g0005 a0001c0003t0012g0205 |
2 | HG02965.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.312+5944T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174519 | |||||||
| chr21:41174534 | A | G | 232 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(229): Show |
235 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(232): Show |
intron_variant | MODIFIER | c.312+5959A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174534 | |||||||
| chr21:41174648 | T | C | 1 | a0001c0001t0017g0147 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.312+6073T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174648 | |||||||
| chr21:41174744 | C | T | 3 | a0001c0001t0005g0009 a0001c0001t0007g0003 a0001c0001t0017g0147 |
3 | HG02109.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.312+6169C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174744 | |||||||
| chr21:41174810 | T | G | 1 | a0001c0001t0033g0038 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.312+6235T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174810 | |||||||
| chr21:41174890 | C | T | 122 | a0001c0001t0001g0187 a0001c0001t0002g0008 a0001c0001t0002g0027 others(119): Show |
124 | HG00642.hp2 HG00738.hp2 HG00741.hp2 others(121): Show |
intron_variant | MODIFIER | c.312+6315C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174890 | |||||||
| chr21:41174976 | A | G | 17 | a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0003g0198 others(14): Show |
17 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.312+6401A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41174976 | |||||||
| chr21:41175005 | G | A | 28 | a0001c0001t0001g0187 a0001c0001t0002g0204 a0001c0001t0003g0228 others(25): Show |
28 | HG00738.hp2 HG01070.hp2 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.312+6430G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175005 | |||||||
| chr21:41175366 | A | T | 9 | a0001c0001t0002g0195 a0001c0002t0001g0056 a0001c0002t0001g0132 others(6): Show |
9 | HG02071.hp2 HG02083.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+6791A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175366 | |||||||
| chr21:41175553 | G | T | 12 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0004g0239 others(9): Show |
12 | HG01070.hp2 HG01071.hp2 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+6978G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175553 | |||||||
| chr21:41175610 | A | G | 1 | a0001c0001t0005g0148 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.312+7035A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175610 | |||||||
| chr21:41175829 | G | A | 6 | a0001c0001t0001g0224 a0001c0001t0002g0002 a0001c0001t0016g0040 others(3): Show |
7 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+7254G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175829 | |||||||
| chr21:41175908 | C | T | 3 | a0001c0001t0001g0121 a0001c0001t0051g0133 a0001c0002t0001g0219 |
3 | HG00140.hp1 HG01167.hp1 HG01978.hp1 |
intron_variant | MODIFIER | c.312+7333C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175908 | |||||||
| chr21:41175960 | C | T | 1 | a0001c0001t0053g0077 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.312+7385C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175960 | |||||||
| chr21:41175967 | A | G | 72 | a0001c0001t0001g0258 a0001c0001t0002g0008 a0001c0001t0002g0036 others(69): Show |
74 | HG00642.hp2 HG00738.hp2 HG00741.hp1 others(71): Show |
intron_variant | MODIFIER | c.312+7392A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41175967 | |||||||
| chr21:41176111 | T | C | 1 | a0001c0001t0007g0051 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.312+7536T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176111 | |||||||
| chr21:41176248 | C | T | 2 | a0001c0001t0006g0236 a0001c0002t0062g0015 |
2 | HG03654.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.312+7673C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176248 | |||||||
| chr21:41176259 | A | G | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+7684A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176259 | |||||||
| chr21:41176297 | A | C | 75 | a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0249 others(72): Show |
76 | HG00408.hp1 HG00642.hp1 HG00642.hp2 others(73): Show |
intron_variant | MODIFIER | c.312+7722A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176297 | |||||||
| chr21:41176493 | G | A | 2 | a0001c0001t0002g0190 a0001c0001t0054g0191 |
2 | HG01243.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.312+7918G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176493 | |||||||
| chr21:41176526 | C | T | 29 | a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0232 others(26): Show |
32 | HG00642.hp1 HG01070.hp1 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.312+7951C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176526 | |||||||
| chr21:41176554 | C | T | 39 | a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0002g0002 others(36): Show |
42 | HG00642.hp1 HG01070.hp1 HG01099.hp1 others(39): Show |
intron_variant | MODIFIER | c.312+7979C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176554 | |||||||
| chr21:41176555 | G | A | 1 | a0001c0002t0001g0202 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.312+7980G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176555 | |||||||
| chr21:41176793 | C | A | 2 | a0001c0001t0002g0050 a0001c0001t0005g0141 |
2 | HG01884.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.312+8218C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176793 | |||||||
| chr21:41176794 | A | G | 183 | a0001c0001t0001g0171 a0001c0001t0001g0249 a0001c0001t0001g0258 others(180): Show |
183 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(180): Show |
intron_variant | MODIFIER | c.312+8219A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176794 | |||||||
| chr21:41176852 | G | A | 8 | a0001c0001t0001g0187 a0001c0001t0002g0008 a0001c0001t0004g0226 others(5): Show |
8 | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.312+8277G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176852 | |||||||
| chr21:41176894 | G | A | 1 | a0001c0001t0006g0162 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.312+8319G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176894 | |||||||
| chr21:41176902 | G | C | 162 | a0001c0001t0001g0171 a0001c0001t0001g0249 a0001c0001t0001g0258 others(159): Show |
162 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.312+8327G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176902 | |||||||
| chr21:41176973 | A | G | 1 | a0001c0001t0009g0165 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.312+8398A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41176973 | |||||||
| chr21:41177080 | A | T | 34 | a0001c0001t0002g0088 a0001c0001t0003g0198 a0001c0001t0004g0075 others(31): Show |
34 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(31): Show |
intron_variant | MODIFIER | c.312+8505A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177080 | |||||||
| chr21:41177195 | G | T | 4 | a0001c0001t0003g0198 a0001c0001t0008g0011 a0001c0001t0020g0262 others(1): Show |
4 | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+8620G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177195 | |||||||
| chr21:41177348 | G | A | 4 | a0001c0001t0002g0234 a0001c0001t0003g0126 a0001c0002t0001g0044 others(1): Show |
4 | HG02074.hp1 HG02132.hp1 NA18988.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+8773G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177348 | |||||||
| chr21:41177499 | G | A | 6 | a0001c0001t0002g0008 a0001c0001t0005g0006 a0001c0001t0014g0197 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+8924G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177499 | |||||||
| chr21:41177583 | G | A | 3 | a0001c0001t0005g0245 a0001c0001t0011g0012 a0002c0005t0041g0139 |
3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+9008G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177583 | |||||||
| chr21:41177617 | G | A | 1 | a0001c0002t0001g0065 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.312+9042G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177617 | |||||||
| chr21:41177635 | G | A | 1 | a0001c0001t0027g0192 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.312+9060G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177635 | |||||||
| chr21:41177659 | G | A | 35 | a0001c0001t0002g0088 a0001c0001t0003g0198 a0001c0001t0004g0075 others(32): Show |
35 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(32): Show |
intron_variant | MODIFIER | c.312+9084G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177659 | |||||||
| chr21:41177809 | T | G | 1 | a0001c0001t0008g0264 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.312+9234T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41177809 | |||||||
| chr21:41178177 | G | A | 39 | a0001c0001t0002g0088 a0001c0001t0003g0198 a0001c0001t0004g0075 others(36): Show |
39 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.312+9602G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178177 | |||||||
| chr21:41178346 | A | C | 1 | a0001c0001t0009g0048 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.312+9771A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178346 | |||||||
| chr21:41178404 | A | C | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+9829A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178404 | |||||||
| chr21:41178466 | G | A | 42 | a0001c0001t0002g0088 a0001c0001t0003g0198 a0001c0001t0004g0075 others(39): Show |
42 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(39): Show |
intron_variant | MODIFIER | c.312+9891G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178466 | |||||||
| chr21:41178473 | T | C | 1 | a0001c0001t0002g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.312+9898T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178473 | |||||||
| chr21:41178475 | C | G | 126 | a0001c0001t0001g0171 a0001c0001t0001g0224 a0001c0001t0001g0249 others(123): Show |
127 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(124): Show |
intron_variant | MODIFIER | c.312+9900C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178475 | |||||||
| chr21:41178569 | A | G | 7 | a0001c0001t0002g0008 a0001c0001t0004g0226 a0001c0001t0005g0006 others(4): Show |
7 | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+9994A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178569 | |||||||
| chr21:41178584 | T | A | 1 | a0001c0001t0001g0224 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.312+10009T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178584 | |||||||
| chr21:41178654 | T | C | 16 | a0001c0001t0002g0204 a0001c0001t0004g0073 a0001c0001t0004g0142 others(13): Show |
16 | HG01099.hp2 HG01257.hp1 HG01258.hp2 others(13): Show |
intron_variant | MODIFIER | c.312+10079T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178654 | |||||||
| chr21:41178723 | C | T | 2 | a0001c0001t0021g0028 a0001c0006t0052g0261 |
2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.312+10148C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41178723 | |||||||
| chr21:41178875 | CTT | C | 23 | a0001c0001t0002g0088 a0001c0001t0004g0075 a0001c0001t0005g0023 others(20): Show |
23 | HG01069.hp2 HG01361.hp1 HG01496.hp1 others(20): Show |
intron_variant | MODIFIER | c.312+10303_312+1030 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41178875 | ||||||
| chr21:41179112 | C | T | 23 | a0001c0001t0002g0088 a0001c0001t0004g0075 a0001c0001t0005g0023 others(20): Show |
23 | HG01069.hp2 HG01361.hp1 HG01496.hp1 others(20): Show |
intron_variant | MODIFIER | c.312+10537C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179112 | |||||||
| chr21:41179133 | TCAGGGTG others(15): Show |
T | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+10581_312+1060 others(26): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41179133 | ||||||
| chr21:41179138 | G | GTGAGGAG others(15): Show |
62 | a0001c0001t0002g0088 a0001c0001t0002g0204 a0001c0001t0003g0198 others(59): Show |
62 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.312+10576_312+1057 others(26): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41179138 | ||||||
| chr21:41179203 | T | G | 87 | a0001c0001t0002g0008 a0001c0001t0002g0088 a0001c0001t0002g0150 others(84): Show |
87 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(84): Show |
intron_variant | MODIFIER | c.312+10628T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179203 | |||||||
| chr21:41179236 | TGTCCAGG others(15): Show |
T | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+10698_312+1071 others(26): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41179236 | ||||||
| chr21:41179256 | G | A | 1 | a0001c0001t0017g0147 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.312+10681G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179256 | |||||||
| chr21:41179327 | G | A | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+10752G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179327 | |||||||
| chr21:41179335 | G | T | 62 | a0001c0001t0002g0088 a0001c0001t0002g0204 a0001c0001t0003g0198 others(59): Show |
62 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.312+10760G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179335 | |||||||
| chr21:41179506 | G | GGGGTGAG others(33): Show |
18 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0002g0157 others(15): Show |
20 | HG00642.hp1 HG01099.hp1 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.312+10958_312+1099 others(44): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41179506 | ||||||
| chr21:41179699 | G | A | 85 | a0001c0001t0002g0008 a0001c0001t0002g0088 a0001c0001t0002g0150 others(82): Show |
85 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(82): Show |
intron_variant | MODIFIER | c.312+11124G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179699 | |||||||
| chr21:41179816 | T | G | 1 | a0001c0001t0036g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.312+11241T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179816 | |||||||
| chr21:41179861 | A | G | 2 | a0001c0001t0003g0014 a0001c0002t0001g0024 |
2 | HG01496.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.312+11286A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179861 | |||||||
| chr21:41179899 | G | A | 1 | a0001c0003t0005g0052 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.312+11324G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179899 | |||||||
| chr21:41179923 | C | T | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+11348C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41179923 | |||||||
| chr21:41180095 | A | C | 3 | a0001c0001t0005g0148 a0001c0001t0014g0004 a0001c0002t0001g0203 |
3 | HG03139.hp2 HG06807.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.312+11520A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180095 | |||||||
| chr21:41180108 | T | G | 1 | a0001c0001t0003g0154 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.312+11533T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180108 | |||||||
| chr21:41180220 | G | A | 2 | a0001c0001t0002g0190 a0001c0001t0054g0191 |
2 | HG01243.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.312+11645G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180220 | |||||||
| chr21:41180512 | G | A | 3 | a0001c0001t0005g0148 a0001c0001t0014g0004 a0001c0002t0001g0203 |
3 | HG03139.hp2 HG06807.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.312+11937G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180512 | |||||||
| chr21:41180640 | G | A | 1 | a0001c0001t0021g0028 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.312+12065G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41180640 | |||||||
| chr21:41181140 | G | A | 1 | a0001c0001t0007g0242 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.312+12565G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181140 | |||||||
| chr21:41181153 | A | T | 2 | a0001c0001t0004g0106 a0001c0002t0001g0105 |
2 | NA18950.hp2 NA18987.hp2 |
intron_variant | MODIFIER | c.312+12578A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181153 | |||||||
| chr21:41181200 | G | T | 1 | a0001c0002t0001g0196 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.312+12625G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181200 | |||||||
| chr21:41181216 | G | A | 1 | a0001c0002t0001g0169 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.312+12641G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181216 | |||||||
| chr21:41181291 | A | G | 23 | a0001c0001t0002g0088 a0001c0001t0004g0075 a0001c0001t0005g0023 others(20): Show |
23 | HG01069.hp2 HG01361.hp1 HG01496.hp1 others(20): Show |
intron_variant | MODIFIER | c.312+12716A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181291 | |||||||
| chr21:41181518 | G | A | 2 | a0001c0002t0001g0112 a0001c0002t0001g0223 |
2 | HG01361.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.312+12943G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181518 | |||||||
| chr21:41181551 | C | T | 1 | a0001c0001t0027g0192 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.312+12976C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181551 | |||||||
| chr21:41181706 | C | T | 16 | a0001c0001t0003g0154 a0001c0001t0003g0222 a0001c0001t0003g0228 others(13): Show |
18 | HG00738.hp2 HG01099.hp1 HG01261.hp1 others(15): Show |
intron_variant | MODIFIER | c.312+13131C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181706 | |||||||
| chr21:41181884 | C | A | 23 | a0001c0001t0002g0008 a0001c0001t0003g0198 a0001c0001t0004g0226 others(20): Show |
23 | HG01361.hp1 HG01496.hp1 HG02055.hp2 others(20): Show |
intron_variant | MODIFIER | c.312+13309C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41181884 | |||||||
| chr21:41182115 | C | T | 28 | a0001c0001t0001g0187 a0001c0001t0003g0198 a0001c0001t0004g0075 others(25): Show |
28 | HG01167.hp2 HG01169.hp2 HG01361.hp1 others(25): Show |
intron_variant | MODIFIER | c.312+13540C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182115 | |||||||
| chr21:41182368 | T | A | 1 | a0001c0001t0005g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.312+13793T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182368 | |||||||
| chr21:41182385 | C | G | 2 | a0001c0001t0004g0073 a0001c0001t0004g0200 |
2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.312+13810C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182385 | |||||||
| chr21:41182523 | A | G | 1 | a0001c0001t0003g0042 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.312+13948A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182523 | |||||||
| chr21:41182576 | G | A | 4 | a0001c0001t0008g0078 a0001c0001t0014g0197 a0001c0001t0014g0251 others(1): Show |
4 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+14001G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182576 | |||||||
| chr21:41182586 | T | C | 2 | a0001c0001t0001g0187 a0001c0002t0001g0034 |
2 | HG02132.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.312+14011T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182586 | |||||||
| chr21:41182707 | T | C | 44 | a0001c0001t0001g0121 a0001c0001t0002g0008 a0001c0001t0002g0088 others(41): Show |
44 | HG00140.hp1 HG00642.hp2 HG01069.hp2 others(41): Show |
intron_variant | MODIFIER | c.312+14132T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182707 | |||||||
| chr21:41182830 | A | G | 7 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0238 others(4): Show |
7 | HG01099.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.312+14255A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182830 | |||||||
| chr21:41182899 | A | G | 7 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0238 others(4): Show |
7 | HG01099.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.312+14324A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182899 | |||||||
| chr21:41182966 | C | T | 3 | a0001c0001t0005g0031 a0001c0001t0005g0070 a0001c0001t0030g0207 |
3 | HG02723.hp2 HG03225.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.312+14391C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182966 | |||||||
| chr21:41182967 | G | A | 1 | a0001c0002t0023g0193 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.312+14392G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41182967 | |||||||
| chr21:41183060 | A | G | 7 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0238 others(4): Show |
7 | HG01099.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.312+14485A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183060 | |||||||
| chr21:41183070 | A | G | 39 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0088 others(36): Show |
40 | HG00642.hp2 HG01069.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.312+14495A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183070 | |||||||
| chr21:41183078 | A | G | 266 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(263): Show |
269 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(266): Show |
intron_variant | MODIFIER | c.312+14503A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183078 | |||||||
| chr21:41183244 | G | A | 5 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0238 others(2): Show |
5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+14669G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183244 | |||||||
| chr21:41183476 | T | C | 5 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0238 others(2): Show |
5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+14901T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183476 | |||||||
| chr21:41183483 | A | G | 1 | a0001c0001t0005g0006 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.312+14908A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183483 | |||||||
| chr21:41183543 | A | G | 5 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0238 others(2): Show |
5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+14968A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183543 | |||||||
| chr21:41183549 | G | A | 6 | a0001c0001t0003g0198 a0001c0001t0007g0003 a0001c0001t0011g0266 others(3): Show |
6 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+14974G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183549 | |||||||
| chr21:41183628 | C | A | 5 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0238 others(2): Show |
5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+15053C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183628 | |||||||
| chr21:41183689 | A | C | 5 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0238 others(2): Show |
5 | HG01257.hp1 HG01258.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+15114A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183689 | |||||||
| chr21:41183811 | C | G | 1 | a0001c0001t0003g0059 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.312+15236C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183811 | |||||||
| chr21:41183834 | T | C | 1 | a0001c0002t0055g0185 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.312+15259T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183834 | |||||||
| chr21:41183840 | T | C | 2 | a0001c0001t0005g0141 a0001c0001t0011g0089 |
2 | HG02809.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.312+15265T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183840 | |||||||
| chr21:41183859 | G | T | 12 | a0001c0001t0003g0198 a0001c0001t0007g0003 a0001c0001t0008g0078 others(9): Show |
12 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.312+15284G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183859 | |||||||
| chr21:41183976 | A | G | 1 | a0001c0001t0021g0028 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.312+15401A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41183976 | |||||||
| chr21:41184093 | T | C | 1 | a0001c0001t0030g0207 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.312+15518T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184093 | |||||||
| chr21:41184274 | C | A | 1 | a0001c0001t0006g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.312+15699C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184274 | |||||||
| chr21:41184275 | C | T | 1 | a0001c0001t0021g0028 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.312+15700C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184275 | |||||||
| chr21:41184335 | T | A | 4 | a0001c0001t0008g0078 a0001c0001t0014g0197 a0001c0001t0014g0251 others(1): Show |
4 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+15760T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184335 | |||||||
| chr21:41184407 | C | T | 3 | a0001c0001t0005g0148 a0001c0001t0014g0004 a0001c0001t0053g0077 |
3 | HG02922.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+15832C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184407 | |||||||
| chr21:41184483 | G | A | 29 | a0001c0001t0002g0088 a0001c0001t0002g0149 a0001c0001t0004g0026 others(26): Show |
29 | HG00642.hp1 HG01069.hp2 HG01099.hp2 others(26): Show |
intron_variant | MODIFIER | c.312+15908G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184483 | |||||||
| chr21:41184486 | A | T | 22 | a0001c0001t0003g0228 a0001c0001t0005g0023 a0001c0001t0005g0141 others(19): Show |
24 | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.312+15911A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184486 | |||||||
| chr21:41184592 | G | C | 17 | a0001c0001t0003g0228 a0001c0001t0005g0023 a0001c0001t0005g0160 others(14): Show |
19 | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.312+16017G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184592 | |||||||
| chr21:41184691 | CATT | C | 33 | a0001c0001t0002g0149 a0001c0001t0003g0198 a0001c0001t0003g0228 others(30): Show |
35 | HG00642.hp1 HG00738.hp2 HG00741.hp2 others(32): Show |
intron_variant | MODIFIER | c.312+16118_312+1612 others(7): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41184691 | ||||||
| chr21:41184766 | A | G | 1 | a0001c0001t0006g0252 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.312+16191A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184766 | |||||||
| chr21:41184819 | G | A | 1 | a0001c0001t0001g0224 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.312+16244G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184819 | |||||||
| chr21:41184958 | A | G | 107 | a0001c0001t0001g0187 a0001c0001t0002g0064 a0001c0001t0002g0088 others(104): Show |
109 | HG00642.hp1 HG00733.hp1 HG00738.hp2 others(106): Show |
intron_variant | MODIFIER | c.312+16383A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41184958 | |||||||
| chr21:41185182 | T | C | 2 | a0001c0002t0003g0214 a0001c0002t0003g0256 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.312+16607T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185182 | |||||||
| chr21:41185423 | C | A | 1 | a0001c0001t0020g0151 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.312+16848C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185423 | |||||||
| chr21:41185437 | T | C | 6 | a0001c0001t0005g0238 a0001c0001t0006g0188 a0001c0001t0008g0035 others(3): Show |
6 | HG02622.hp2 HG02717.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+16862T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185437 | |||||||
| chr21:41185550 | T | C | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+16975T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185550 | |||||||
| chr21:41185689 | C | T | 1 | a0001c0001t0004g0075 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.312+17114C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185689 | |||||||
| chr21:41185715 | G | A | 4 | a0001c0002t0001g0112 a0001c0002t0001g0166 a0001c0002t0001g0223 others(1): Show |
4 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+17140G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185715 | |||||||
| chr21:41185763 | G | T | 1 | a0001c0003t0005g0052 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.312+17188G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185763 | |||||||
| chr21:41185791 | G | A | 10 | a0001c0001t0001g0187 a0001c0001t0005g0148 a0001c0001t0005g0238 others(7): Show |
10 | HG02896.hp1 HG02965.hp1 HG03098.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+17216G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185791 | |||||||
| chr21:41185801 | G | A | 1 | a0001c0001t0005g0141 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.312+17226G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185801 | |||||||
| chr21:41185836 | C | T | 2 | a0001c0001t0003g0063 a0001c0001t0003g0084 |
2 | NA18983.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.312+17261C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185836 | |||||||
| chr21:41185939 | C | G | 10 | a0001c0001t0001g0187 a0001c0001t0005g0148 a0001c0001t0005g0238 others(7): Show |
10 | HG02896.hp1 HG02965.hp1 HG03098.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+17364C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185939 | |||||||
| chr21:41185940 | G | A | 1 | a0001c0001t0005g0009 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.312+17365G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41185940 | |||||||
| chr21:41186041 | A | C | 2 | a0001c0001t0005g0245 a0002c0005t0041g0139 |
2 | NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+17466A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186041 | |||||||
| chr21:41186224 | C | G | 22 | a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0200 others(19): Show |
22 | HG01106.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+17649C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186224 | |||||||
| chr21:41186262 | G | A | 1 | a0001c0001t0005g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.312+17687G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186262 | |||||||
| chr21:41186472 | C | T | 2 | a0001c0001t0005g0148 a0001c0001t0014g0004 |
2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+17897C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186472 | |||||||
| chr21:41186526 | C | G | 8 | a0001c0001t0004g0212 a0001c0001t0005g0009 a0001c0001t0005g0245 others(5): Show |
8 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+17951C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186526 | |||||||
| chr21:41186611 | C | T | 9 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0006 others(6): Show |
9 | HG01106.hp2 HG01257.hp1 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.312+18036C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186611 | |||||||
| chr21:41186668 | T | C | 1 | a0001c0002t0001g0219 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.312+18093T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186668 | |||||||
| chr21:41186728 | C | T | 5 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+18153C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186728 | |||||||
| chr21:41186729 | G | A | 8 | a0001c0001t0004g0073 a0001c0001t0004g0200 a0001c0001t0005g0006 others(5): Show |
8 | HG01257.hp1 HG01258.hp2 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.312+18154G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186729 | |||||||
| chr21:41186767 | T | C | 12 | a0001c0001t0003g0014 a0001c0001t0004g0026 a0001c0001t0004g0142 others(9): Show |
12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+18192T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186767 | |||||||
| chr21:41186834 | A | G | 5 | a0001c0001t0005g0148 a0001c0001t0007g0076 a0001c0001t0014g0004 others(2): Show |
5 | HG02896.hp1 HG02965.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+18259A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186834 | |||||||
| chr21:41186972 | G | A | 10 | a0001c0001t0001g0187 a0001c0001t0005g0148 a0001c0001t0005g0238 others(7): Show |
10 | HG02896.hp1 HG02965.hp1 HG03098.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+18397G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41186972 | |||||||
| chr21:41187069 | C | G | 1 | a0001c0001t0021g0028 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.312+18494C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187069 | |||||||
| chr21:41187070 | C | T | 8 | a0001c0001t0003g0016 a0001c0001t0004g0184 a0001c0002t0001g0112 others(5): Show |
8 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(5): Show |
intron_variant | MODIFIER | c.312+18495C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187070 | |||||||
| chr21:41187093 | G | A | 5 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+18518G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187093 | |||||||
| chr21:41187121 | G | A | 14 | a0001c0001t0004g0075 a0001c0001t0008g0078 a0001c0001t0008g0087 others(11): Show |
14 | HG01167.hp2 HG01169.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.312+18546G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187121 | |||||||
| chr21:41187134 | G | A | 3 | a0001c0001t0005g0245 a0001c0001t0011g0012 a0002c0005t0041g0139 |
3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+18559G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187134 | |||||||
| chr21:41187284 | C | T | 7 | a0001c0001t0003g0014 a0001c0001t0004g0142 a0001c0001t0006g0188 others(4): Show |
7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+18709C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187284 | |||||||
| chr21:41187543 | T | A | 5 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+18968T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187543 | |||||||
| chr21:41187562 | A | G | 1 | a0001c0001t0030g0207 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.312+18987A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187562 | |||||||
| chr21:41187769 | G | A | 2 | a0001c0001t0003g0228 a0001c0001t0005g0160 |
2 | HG00738.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.312+19194G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41187769 | |||||||
| chr21:41188124 | A | G | 12 | a0001c0001t0003g0014 a0001c0001t0004g0026 a0001c0001t0004g0142 others(9): Show |
12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+19549A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188124 | |||||||
| chr21:41188149 | A | G | 12 | a0001c0001t0003g0014 a0001c0001t0004g0026 a0001c0001t0004g0142 others(9): Show |
12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+19574A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188149 | |||||||
| chr21:41188158 | G | T | 12 | a0001c0001t0003g0014 a0001c0001t0004g0026 a0001c0001t0004g0142 others(9): Show |
12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+19583G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188158 | |||||||
| chr21:41188186 | A | C | 9 | a0001c0001t0003g0016 a0001c0001t0004g0184 a0001c0002t0001g0112 others(6): Show |
9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+19611A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188186 | |||||||
| chr21:41188390 | T | A | 24 | a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0200 others(21): Show |
24 | HG01106.hp2 HG01167.hp2 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.312+19815T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188390 | |||||||
| chr21:41188559 | C | T | 7 | a0001c0001t0003g0014 a0001c0001t0004g0142 a0001c0001t0006g0188 others(4): Show |
7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+19984C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188559 | |||||||
| chr21:41188560 | AC | A | 12 | a0001c0001t0003g0014 a0001c0001t0004g0026 a0001c0001t0004g0142 others(9): Show |
12 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+19992delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41188560 | ||||||
| chr21:41188562 | C | A | 2 | a0001c0001t0006g0188 a0001c0001t0008g0035 |
2 | HG02622.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.312+19987C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188562 | |||||||
| chr21:41188562 | C | G | 1 | a0001c0001t0015g0068 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.312+19987C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188562 | |||||||
| chr21:41188562 | C | T | 4 | a0001c0001t0005g0238 a0001c0001t0017g0147 a0001c0001t0038g0103 others(1): Show |
4 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+19987C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188562 | |||||||
| chr21:41188614 | G | A | 3 | a0001c0001t0001g0224 a0001c0001t0013g0115 a0001c0002t0001g0122 |
3 | HG00140.hp2 HG01081.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.312+20039G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188614 | |||||||
| chr21:41188631 | A | G | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+20056A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188631 | |||||||
| chr21:41188830 | A | G | 9 | a0001c0001t0003g0016 a0001c0001t0004g0184 a0001c0002t0001g0112 others(6): Show |
9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+20255A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41188830 | |||||||
| chr21:41189078 | A | G | 9 | a0001c0001t0002g0008 a0001c0001t0007g0080 a0001c0001t0007g0090 others(6): Show |
9 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+20503A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189078 | |||||||
| chr21:41189107 | A | G | 50 | a0001c0001t0002g0088 a0001c0001t0003g0016 a0001c0001t0003g0198 others(47): Show |
50 | HG00741.hp2 HG01069.hp2 HG01099.hp1 others(47): Show |
intron_variant | MODIFIER | c.312+20532A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189107 | |||||||
| chr21:41189140 | A | G | 4 | a0001c0002t0001g0041 a0001c0002t0001g0065 a0001c0002t0001g0233 others(1): Show |
4 | HG01952.hp2 HG01981.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+20565A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189140 | |||||||
| chr21:41189194 | T | TA | 10 | a0001c0001t0003g0016 a0001c0001t0004g0184 a0001c0001t0033g0038 others(7): Show |
10 | HG01167.hp1 HG01361.hp1 HG01496.hp1 others(7): Show |
intron_variant | MODIFIER | c.312+20633dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41189194 | ||||||
| chr21:41189194 | T | TAA | 70 | a0001c0001t0002g0088 a0001c0001t0002g0149 a0001c0001t0003g0014 others(67): Show |
70 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(67): Show |
intron_variant | MODIFIER | c.312+20632_312+2063 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41189194 | ||||||
| chr21:41189239 | A | G | 2 | a0001c0001t0005g0148 a0001c0001t0014g0004 |
2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+20664A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189239 | |||||||
| chr21:41189778 | A | G | 7 | a0001c0001t0002g0149 a0001c0001t0032g0211 a0001c0001t0051g0133 others(4): Show |
7 | HG00642.hp1 HG01167.hp1 HG01978.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+21203A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189778 | |||||||
| chr21:41189807 | A | G | 1 | a0001c0002t0022g0183 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.312+21232A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189807 | |||||||
| chr21:41189921 | T | C | 5 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+21346T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189921 | |||||||
| chr21:41189934 | G | T | 18 | a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0050 others(15): Show |
18 | HG01070.hp2 HG01071.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.312+21359G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189934 | |||||||
| chr21:41189969 | A | G | 22 | a0001c0001t0003g0198 a0001c0001t0004g0075 a0001c0001t0005g0141 others(19): Show |
22 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+21394A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41189969 | |||||||
| chr21:41190099 | C | T | 75 | a0001c0001t0002g0088 a0001c0001t0002g0149 a0001c0001t0003g0014 others(72): Show |
75 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(72): Show |
intron_variant | MODIFIER | c.312+21524C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190099 | |||||||
| chr21:41190194 | A | T | 4 | a0001c0001t0004g0212 a0001c0001t0005g0009 a0001c0001t0009g0227 others(1): Show |
4 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+21619A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190194 | |||||||
| chr21:41190346 | T | C | 8 | a0001c0001t0003g0198 a0001c0001t0005g0141 a0001c0001t0007g0003 others(5): Show |
8 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+21771T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190346 | |||||||
| chr21:41190418 | G | A | 11 | a0001c0001t0004g0075 a0001c0001t0008g0078 a0001c0001t0008g0087 others(8): Show |
11 | HG01167.hp2 HG01169.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.312+21843G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190418 | |||||||
| chr21:41190547 | G | A | 5 | a0001c0001t0004g0212 a0001c0001t0005g0009 a0001c0001t0009g0227 others(2): Show |
5 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+21972G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190547 | |||||||
| chr21:41190794 | C | T | 1 | a0001c0001t0004g0226 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.312+22219C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190794 | |||||||
| chr21:41190808 | T | C | 9 | a0001c0001t0003g0016 a0001c0001t0004g0184 a0001c0002t0001g0112 others(6): Show |
9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+22233T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190808 | |||||||
| chr21:41190850 | G | A | 3 | a0001c0001t0007g0076 a0001c0001t0031g0237 a0001c0003t0012g0205 |
3 | HG02896.hp1 HG02965.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.312+22275G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41190850 | |||||||
| chr21:41191159 | G | A | 3 | a0001c0001t0005g0238 a0001c0001t0038g0103 a0001c0001t0061g0104 |
3 | HG03209.hp1 HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.312+22584G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191159 | |||||||
| chr21:41191335 | A | G | 76 | a0001c0001t0002g0088 a0001c0001t0002g0149 a0001c0001t0003g0014 others(73): Show |
76 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(73): Show |
intron_variant | MODIFIER | c.312+22760A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191335 | |||||||
| chr21:41191390 | A | G | 5 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+22815A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191390 | |||||||
| chr21:41191397 | C | T | 22 | a0001c0001t0002g0149 a0001c0001t0003g0014 a0001c0001t0004g0142 others(19): Show |
22 | HG00642.hp1 HG01109.hp1 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.312+22822C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191397 | |||||||
| chr21:41191402 | G | T | 22 | a0001c0001t0003g0198 a0001c0001t0004g0075 a0001c0001t0005g0141 others(19): Show |
22 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+22827G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191402 | |||||||
| chr21:41191425 | G | A | 9 | a0001c0001t0003g0016 a0001c0001t0004g0184 a0001c0002t0001g0112 others(6): Show |
9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+22850G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191425 | |||||||
| chr21:41191451 | T | C | 87 | a0001c0001t0001g0187 a0001c0001t0002g0088 a0001c0001t0002g0149 others(84): Show |
87 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(84): Show |
intron_variant | MODIFIER | c.312+22876T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191451 | |||||||
| chr21:41191485 | T | C | 5 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+22910T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191485 | |||||||
| chr21:41191548 | C | T | 14 | a0001c0001t0004g0075 a0001c0001t0008g0078 a0001c0001t0008g0087 others(11): Show |
14 | HG01167.hp2 HG01169.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.312+22973C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191548 | |||||||
| chr21:41191606 | T | C | 7 | a0001c0001t0003g0014 a0001c0001t0004g0142 a0001c0001t0006g0188 others(4): Show |
7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+23031T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191606 | |||||||
| chr21:41191674 | G | A | 7 | a0001c0001t0003g0014 a0001c0001t0004g0142 a0001c0001t0006g0188 others(4): Show |
7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+23099G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191674 | |||||||
| chr21:41191871 | A | G | 5 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+23296A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191871 | |||||||
| chr21:41191875 | A | T | 9 | a0001c0001t0003g0016 a0001c0001t0004g0184 a0001c0002t0001g0112 others(6): Show |
9 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+23300A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191875 | |||||||
| chr21:41191938 | T | C | 2 | a0001c0001t0015g0091 a0001c0002t0001g0248 |
2 | NA18945.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.312+23363T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41191938 | |||||||
| chr21:41191954 | A | ATCATGCT others(6): Show |
5 | a0001c0001t0005g0148 a0001c0001t0007g0076 a0001c0001t0014g0004 others(2): Show |
5 | HG02896.hp1 HG02965.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+23380_312+2339 others(17): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41191954 | ||||||
| chr21:41192163 | A | G | 22 | a0001c0001t0003g0198 a0001c0001t0004g0075 a0001c0001t0005g0141 others(19): Show |
22 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+23588A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192163 | |||||||
| chr21:41192257 | C | T | 74 | a0001c0001t0002g0088 a0001c0001t0002g0149 a0001c0001t0003g0014 others(71): Show |
74 | HG00642.hp1 HG00741.hp2 HG01069.hp2 others(71): Show |
intron_variant | MODIFIER | c.312+23682C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192257 | |||||||
| chr21:41192316 | C | T | 1 | a0001c0002t0001g0260 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.312+23741C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192316 | |||||||
| chr21:41192319 | T | A | 2 | a0001c0001t0002g0170 a0001c0002t0001g0099 |
2 | NA18984.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.312+23744T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192319 | |||||||
| chr21:41192418 | A | G | 5 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+23843A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192418 | |||||||
| chr21:41192545 | A | G | 7 | a0001c0001t0003g0198 a0001c0001t0007g0003 a0001c0001t0011g0089 others(4): Show |
7 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.312+23970A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192545 | |||||||
| chr21:41192546 | G | A | 6 | a0001c0001t0002g0149 a0001c0001t0051g0133 a0001c0002t0001g0119 others(3): Show |
6 | HG00642.hp1 HG01167.hp1 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+23971G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192546 | |||||||
| chr21:41192561 | G | T | 1 | a0001c0001t0008g0264 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.312+23986G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192561 | |||||||
| chr21:41192725 | A | G | 1 | a0001c0001t0004g0216 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.312+24150A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192725 | |||||||
| chr21:41192806 | C | T | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+24231C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192806 | |||||||
| chr21:41192822 | A | C | 1 | a0001c0001t0003g0042 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.312+24247A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192822 | |||||||
| chr21:41192844 | G | A | 2 | a0001c0001t0005g0148 a0001c0001t0014g0004 |
2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+24269G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192844 | |||||||
| chr21:41192853 | A | G | 5 | a0001c0001t0004g0212 a0001c0001t0005g0009 a0001c0001t0009g0227 others(2): Show |
5 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+24278A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192853 | |||||||
| chr21:41192916 | A | G | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+24341A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192916 | |||||||
| chr21:41192997 | A | G | 1 | a0001c0001t0002g0204 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.312+24422A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41192997 | |||||||
| chr21:41193118 | C | T | 2 | a0001c0001t0005g0148 a0001c0001t0014g0004 |
2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+24543C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193118 | |||||||
| chr21:41193154 | A | C | 4 | a0001c0001t0005g0238 a0001c0001t0017g0147 a0001c0001t0038g0103 others(1): Show |
4 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+24579A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193154 | |||||||
| chr21:41193220 | C | T | 5 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02630.hp2 HG02723.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+24645C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193220 | |||||||
| chr21:41193374 | A | G | 1 | a0001c0001t0053g0077 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.312+24799A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193374 | |||||||
| chr21:41193435 | T | A | 3 | a0001c0001t0005g0245 a0001c0001t0011g0012 a0002c0005t0041g0139 |
3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+24860T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193435 | |||||||
| chr21:41193439 | C | G | 10 | a0001c0001t0002g0088 a0001c0001t0004g0226 a0001c0001t0006g0252 others(7): Show |
10 | HG01069.hp2 HG01099.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+24864C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193439 | |||||||
| chr21:41193460 | G | T | 1 | a0001c0002t0001g0233 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.312+24885G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193460 | |||||||
| chr21:41193647 | G | C | 8 | a0001c0001t0003g0198 a0001c0001t0005g0141 a0001c0001t0007g0003 others(5): Show |
8 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.312+25072G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193647 | |||||||
| chr21:41193722 | A | G | 2 | a0001c0001t0003g0198 a0001c0001t0021g0086 |
2 | HG02109.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.312+25147A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193722 | |||||||
| chr21:41193976 | A | T | 1 | a0001c0002t0001g0169 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.312+25401A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193976 | |||||||
| chr21:41193991 | G | A | 5 | a0001c0001t0002g0008 a0001c0001t0005g0238 a0001c0001t0017g0147 others(2): Show |
5 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+25416G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41193991 | |||||||
| chr21:41194205 | T | C | 26 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0003g0016 others(23): Show |
26 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.312+25630T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194205 | |||||||
| chr21:41194215 | A | G | 1 | a0001c0002t0057g0071 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.312+25640A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194215 | |||||||
| chr21:41194218 | A | G | 35 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0003g0016 others(32): Show |
35 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(32): Show |
intron_variant | MODIFIER | c.312+25643A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194218 | |||||||
| chr21:41194270 | C | T | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+25695C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194270 | |||||||
| chr21:41194453 | A | G | 9 | a0001c0001t0004g0239 a0001c0001t0007g0080 a0001c0001t0007g0090 others(6): Show |
9 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.312+25878A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194453 | |||||||
| chr21:41194467 | T | C | 1 | a0001c0001t0001g0258 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.312+25892T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194467 | |||||||
| chr21:41194470 | G | A | 3 | a0001c0001t0005g0245 a0001c0001t0011g0012 a0002c0005t0041g0139 |
3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.312+25895G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194470 | |||||||
| chr21:41194546 | G | C | 7 | a0001c0001t0003g0014 a0001c0001t0004g0142 a0001c0001t0006g0188 others(4): Show |
7 | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+25971G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194546 | |||||||
| chr21:41194592 | G | A | 33 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0003g0016 others(30): Show |
33 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(30): Show |
intron_variant | MODIFIER | c.312+26017G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194592 | |||||||
| chr21:41194658 | C | T | 84 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(81): Show |
84 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(81): Show |
intron_variant | MODIFIER | c.312+26083C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194658 | |||||||
| chr21:41194879 | C | T | 14 | a0001c0001t0002g0088 a0001c0001t0002g0149 a0001c0001t0002g0157 others(11): Show |
14 | HG00642.hp1 HG01069.hp2 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.312+26304C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194879 | |||||||
| chr21:41194914 | A | G | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+26339A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194914 | |||||||
| chr21:41194946 | C | A | 1 | a0001c0001t0020g0151 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.312+26371C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41194946 | |||||||
| chr21:41195005 | G | A | 1 | a0001c0001t0009g0120 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.312+26430G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195005 | |||||||
| chr21:41195124 | G | A | 24 | a0001c0001t0002g0178 a0001c0001t0003g0198 a0001c0001t0004g0075 others(21): Show |
24 | HG00408.hp2 HG00741.hp2 HG01167.hp2 others(21): Show |
intron_variant | MODIFIER | c.312+26549G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195124 | |||||||
| chr21:41195194 | G | C | 15 | a0001c0001t0001g0187 a0001c0001t0002g0088 a0001c0001t0002g0149 others(12): Show |
15 | HG00642.hp1 HG01069.hp2 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.312+26619G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195194 | |||||||
| chr21:41195210 | C | T | 62 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(59): Show |
62 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(59): Show |
intron_variant | MODIFIER | c.312+26635C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195210 | |||||||
| chr21:41195486 | G | A | 3 | a0001c0001t0007g0076 a0001c0001t0031g0237 a0001c0003t0012g0205 |
3 | HG02896.hp1 HG02965.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.312+26911G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195486 | |||||||
| chr21:41195499 | C | T | 2 | a0001c0001t0005g0148 a0001c0001t0014g0004 |
2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.312+26924C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195499 | |||||||
| chr21:41195522 | G | A | 5 | a0001c0001t0004g0212 a0001c0001t0005g0009 a0001c0001t0009g0227 others(2): Show |
5 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+26947G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195522 | |||||||
| chr21:41195641 | A | G | 1 | a0001c0001t0035g0114 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.312+27066A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195641 | |||||||
| chr21:41195710 | G | T | 82 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(79): Show |
82 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(79): Show |
intron_variant | MODIFIER | c.312+27135G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195710 | |||||||
| chr21:41195981 | T | G | 3 | a0001c0001t0002g0149 a0001c0002t0001g0119 a0001c0002t0055g0185 |
3 | HG00642.hp1 HG03239.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.312+27406T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41195981 | |||||||
| chr21:41196113 | C | T | 1 | a0001c0002t0001g0213 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.312+27538C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196113 | |||||||
| chr21:41196158 | C | T | 1 | a0001c0001t0033g0038 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.312+27583C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196158 | |||||||
| chr21:41196175 | G | A | 2 | a0001c0001t0003g0198 a0001c0001t0021g0086 |
2 | HG02109.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.312+27600G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196175 | |||||||
| chr21:41196225 | G | A | 18 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0004g0019 others(15): Show |
18 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.312+27650G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196225 | |||||||
| chr21:41196259 | A | G | 8 | a0001c0001t0004g0212 a0001c0001t0005g0009 a0001c0001t0007g0076 others(5): Show |
8 | HG02615.hp1 HG02896.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.312+27684A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196259 | |||||||
| chr21:41196315 | CA | C | 77 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(74): Show |
77 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.312+27753delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41196315 | ||||||
| chr21:41196492 | G | T | 7 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0004g0019 others(4): Show |
7 | HG00280.hp2 HG01074.hp2 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+27917G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196492 | |||||||
| chr21:41196784 | C | T | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+28209C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196784 | |||||||
| chr21:41196852 | C | T | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.312+28277C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41196852 | |||||||
| chr21:41197023 | A | G | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+28448A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197023 | |||||||
| chr21:41197213 | G | A | 19 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0002 others(16): Show |
20 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.312+28638G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197213 | |||||||
| chr21:41197266 | G | GT | 28 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0002 others(25): Show |
29 | HG00280.hp2 HG00642.hp2 HG01069.hp2 others(26): Show |
intron_variant | MODIFIER | c.312+28699dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41197266 | ||||||
| chr21:41197275 | G | T | 32 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0002 others(29): Show |
33 | HG00280.hp2 HG00642.hp2 HG01069.hp2 others(30): Show |
intron_variant | MODIFIER | c.312+28700G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197275 | |||||||
| chr21:41197275 | GT | G | 20 | a0001c0001t0002g0149 a0001c0001t0002g0234 a0001c0001t0003g0014 others(17): Show |
20 | HG00642.hp1 HG01099.hp1 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.312+28715delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41197275 | ||||||
| chr21:41197655 | TA | T | 14 | a0001c0001t0003g0016 a0001c0001t0003g0198 a0001c0001t0004g0184 others(11): Show |
14 | HG01099.hp1 HG01361.hp1 HG01496.hp1 others(11): Show |
intron_variant | MODIFIER | c.313-28599delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41197655 | ||||||
| chr21:41197670 | G | A | 1 | a0001c0002t0001g0034 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.313-28596G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197670 | |||||||
| chr21:41197672 | A | C | 18 | a0001c0001t0004g0026 a0001c0001t0004g0212 a0001c0001t0005g0009 others(15): Show |
18 | HG01106.hp2 HG02615.hp1 HG02630.hp2 others(15): Show |
intron_variant | MODIFIER | c.313-28594A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197672 | |||||||
| chr21:41197820 | A | G | 7 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(4): Show |
7 | HG02630.hp2 HG02723.hp2 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.313-28446A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197820 | |||||||
| chr21:41197916 | A | G | 3 | a0001c0001t0005g0245 a0001c0001t0011g0012 a0002c0005t0041g0139 |
3 | HG03098.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.313-28350A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197916 | |||||||
| chr21:41197943 | T | A | 5 | a0001c0001t0002g0008 a0001c0001t0005g0238 a0001c0001t0017g0147 others(2): Show |
5 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-28323T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41197943 | |||||||
| chr21:41198061 | G | A | 4 | a0001c0001t0003g0059 a0001c0001t0048g0131 a0001c0002t0001g0037 others(1): Show |
4 | HG02071.hp1 HG02602.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-28205G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198061 | |||||||
| chr21:41198099 | C | G | 18 | a0001c0001t0001g0187 a0001c0001t0002g0149 a0001c0001t0003g0014 others(15): Show |
18 | HG00642.hp1 HG01099.hp1 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-28167C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198099 | |||||||
| chr21:41198117 | A | G | 18 | a0001c0001t0004g0026 a0001c0001t0004g0212 a0001c0001t0005g0009 others(15): Show |
18 | HG01106.hp2 HG02615.hp1 HG02630.hp2 others(15): Show |
intron_variant | MODIFIER | c.313-28149A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198117 | |||||||
| chr21:41198160 | G | T | 18 | a0001c0001t0004g0026 a0001c0001t0004g0212 a0001c0001t0005g0009 others(15): Show |
18 | HG01106.hp2 HG02615.hp1 HG02630.hp2 others(15): Show |
intron_variant | MODIFIER | c.313-28106G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198160 | |||||||
| chr21:41198193 | G | A | 1 | a0001c0001t0005g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.313-28073G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198193 | |||||||
| chr21:41198317 | T | C | 107 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(104): Show |
107 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(104): Show |
intron_variant | MODIFIER | c.313-27949T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198317 | |||||||
| chr21:41198428 | G | A | 1 | a0001c0002t0062g0015 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.313-27838G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198428 | |||||||
| chr21:41198518 | C | T | 71 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(68): Show |
71 | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(68): Show |
intron_variant | MODIFIER | c.313-27748C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198518 | |||||||
| chr21:41198640 | C | T | 1 | a0001c0001t0002g0155 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.313-27626C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198640 | |||||||
| chr21:41198707 | T | G | 5 | a0001c0001t0002g0008 a0001c0001t0005g0238 a0001c0001t0017g0147 others(2): Show |
5 | HG03098.hp2 HG03209.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-27559T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198707 | |||||||
| chr21:41198774 | C | G | 20 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0004g0019 others(17): Show |
20 | HG00280.hp2 HG00642.hp2 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.313-27492C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198774 | |||||||
| chr21:41198849 | T | TTTTA | 39 | a0001c0001t0002g0155 a0001c0001t0004g0026 a0001c0001t0004g0106 others(36): Show |
39 | HG00733.hp2 HG01109.hp1 HG01496.hp2 others(36): Show |
intron_variant | MODIFIER | c.313-27382_313-2737 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41198849 | ||||||
| chr21:41198849 | T | TTTTATTT others(1): Show |
26 | a0001c0001t0002g0008 a0001c0001t0002g0149 a0001c0001t0003g0014 others(23): Show |
26 | HG00642.hp1 HG01099.hp1 HG01257.hp1 others(23): Show |
intron_variant | MODIFIER | c.313-27386_313-2737 others(12): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41198849 | ||||||
| chr21:41198849 | T | TTTTATTT others(5): Show |
1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-27390_313-2737 others(16): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41198849 | ||||||
| chr21:41198849 | TTTTA | T | 12 | a0001c0001t0001g0187 a0001c0001t0002g0150 a0001c0001t0002g0195 others(9): Show |
12 | HG01099.hp2 HG01109.hp2 HG01192.hp2 others(9): Show |
intron_variant | MODIFIER | c.313-27382_313-2737 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41198849 | ||||||
| chr21:41198853 | A | T | 8 | a0001c0001t0003g0198 a0001c0001t0005g0141 a0001c0001t0007g0003 others(5): Show |
8 | HG00741.hp2 HG02109.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.313-27413A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198853 | |||||||
| chr21:41198857 | A | T | 4 | a0001c0001t0002g0150 a0001c0001t0008g0013 a0001c0001t0011g0069 others(1): Show |
4 | HG01884.hp1 HG02257.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-27409A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198857 | |||||||
| chr21:41198888 | A | G | 15 | a0001c0001t0004g0026 a0001c0001t0004g0212 a0001c0001t0005g0009 others(12): Show |
15 | HG01106.hp2 HG02615.hp1 HG02630.hp2 others(12): Show |
intron_variant | MODIFIER | c.313-27378A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198888 | |||||||
| chr21:41198914 | T | C | 73 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(70): Show |
73 | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(70): Show |
intron_variant | MODIFIER | c.313-27352T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41198914 | |||||||
| chr21:41199023 | C | T | 9 | a0001c0001t0002g0149 a0001c0001t0003g0016 a0001c0002t0001g0112 others(6): Show |
9 | HG00642.hp1 HG01099.hp1 HG01361.hp1 others(6): Show |
intron_variant | MODIFIER | c.313-27243C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199023 | |||||||
| chr21:41199084 | A | G | 15 | a0001c0001t0003g0198 a0001c0001t0004g0073 a0001c0001t0004g0200 others(12): Show |
15 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.313-27182A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199084 | |||||||
| chr21:41199257 | G | T | 1 | a0001c0002t0001g0116 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.313-27009G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199257 | |||||||
| chr21:41199488 | C | G | 2 | a0001c0001t0027g0192 a0001c0002t0001g0203 |
2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.313-26778C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199488 | |||||||
| chr21:41199643 | G | A | 4 | a0001c0001t0002g0150 a0001c0001t0008g0013 a0001c0001t0011g0069 others(1): Show |
4 | HG01884.hp1 HG02257.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-26623G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199643 | |||||||
| chr21:41199814 | G | A | 108 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(105): Show |
110 | HG00280.hp2 HG00642.hp2 HG00738.hp2 others(107): Show |
intron_variant | MODIFIER | c.313-26452G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199814 | |||||||
| chr21:41199872 | C | T | 1 | a0001c0001t0002g0155 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.313-26394C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199872 | |||||||
| chr21:41199903 | C | T | 1 | a0001c0002t0001g0248 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.313-26363C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199903 | |||||||
| chr21:41199981 | A | C | 2 | a0001c0001t0027g0192 a0001c0002t0001g0203 |
2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.313-26285A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41199981 | |||||||
| chr21:41200080 | A | C | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.313-26186A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200080 | |||||||
| chr21:41200113 | A | G | 26 | a0001c0001t0002g0088 a0001c0001t0002g0159 a0001c0001t0002g0190 others(23): Show |
26 | HG01069.hp2 HG01243.hp2 HG02055.hp2 others(23): Show |
intron_variant | MODIFIER | c.313-26153A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200113 | |||||||
| chr21:41200202 | C | A | 40 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(37): Show |
40 | HG00280.hp2 HG01069.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.313-26064C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200202 | |||||||
| chr21:41200202 | C | CA | 13 | a0001c0001t0003g0198 a0001c0001t0004g0073 a0001c0001t0004g0200 others(10): Show |
13 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(10): Show |
intron_variant | MODIFIER | c.313-26054dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41200202 | ||||||
| chr21:41200202 | CA | C | 8 | a0001c0001t0002g0150 a0001c0001t0008g0013 a0001c0001t0011g0069 others(5): Show |
8 | HG01106.hp2 HG01884.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.313-26054delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41200202 | ||||||
| chr21:41200203 | A | C | 40 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(37): Show |
40 | HG00280.hp2 HG01069.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.313-26063A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200203 | |||||||
| chr21:41200212 | A | C | 1 | a0001c0002t0062g0015 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.313-26054A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200212 | |||||||
| chr21:41200212 | AC | A | 16 | a0001c0001t0002g0149 a0001c0001t0002g0157 a0001c0001t0003g0016 others(13): Show |
16 | HG00642.hp1 HG01099.hp1 HG01361.hp1 others(13): Show |
intron_variant | MODIFIER | c.313-26051delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41200212 | ||||||
| chr21:41200213 | C | A | 14 | a0001c0001t0003g0198 a0001c0001t0004g0073 a0001c0001t0004g0200 others(11): Show |
14 | HG00741.hp2 HG01099.hp2 HG01257.hp1 others(11): Show |
intron_variant | MODIFIER | c.313-26053C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200213 | |||||||
| chr21:41200321 | A | T | 12 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 others(9): Show |
12 | HG02630.hp2 HG02723.hp2 HG02965.hp1 others(9): Show |
intron_variant | MODIFIER | c.313-25945A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200321 | |||||||
| chr21:41200417 | A | C | 39 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(36): Show |
39 | HG00280.hp2 HG01070.hp1 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.313-25849A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200417 | |||||||
| chr21:41200418 | T | C | 5 | a0001c0001t0004g0212 a0001c0001t0005g0009 a0001c0001t0009g0227 others(2): Show |
5 | HG02615.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.313-25848T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200418 | |||||||
| chr21:41200477 | C | T | 2 | a0001c0001t0005g0148 a0001c0001t0014g0004 |
2 | HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-25789C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200477 | |||||||
| chr21:41200478 | G | A | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.313-25788G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200478 | |||||||
| chr21:41200493 | G | A | 13 | a0001c0001t0003g0198 a0001c0001t0004g0073 a0001c0001t0004g0200 others(10): Show |
13 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(10): Show |
intron_variant | MODIFIER | c.313-25773G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200493 | |||||||
| chr21:41200536 | G | A | 2 | a0001c0001t0002g0150 a0001c0001t0011g0069 |
2 | HG02886.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.313-25730G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200536 | |||||||
| chr21:41200548 | C | T | 1 | a0001c0001t0019g0209 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.313-25718C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200548 | |||||||
| chr21:41200587 | C | T | 38 | a0001c0001t0001g0187 a0001c0001t0002g0149 a0001c0001t0002g0150 others(35): Show |
38 | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(35): Show |
intron_variant | MODIFIER | c.313-25679C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200587 | |||||||
| chr21:41200722 | T | C | 29 | a0001c0001t0002g0150 a0001c0001t0003g0198 a0001c0001t0004g0073 others(26): Show |
29 | HG00741.hp2 HG01099.hp2 HG01257.hp1 others(26): Show |
intron_variant | MODIFIER | c.313-25544T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200722 | |||||||
| chr21:41200775 | A | T | 37 | a0001c0001t0002g0150 a0001c0001t0003g0198 a0001c0001t0004g0073 others(34): Show |
37 | HG00741.hp2 HG01099.hp2 HG01167.hp2 others(34): Show |
intron_variant | MODIFIER | c.313-25491A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200775 | |||||||
| chr21:41200782 | G | A | 1 | a0001c0001t0003g0063 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.313-25484G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200782 | |||||||
| chr21:41200847 | C | G | 1 | a0001c0001t0006g0252 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-25419C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200847 | |||||||
| chr21:41200901 | C | T | 6 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0006g0108 others(3): Show |
6 | HG00280.hp2 HG01070.hp1 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-25365C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41200901 | |||||||
| chr21:41201003 | C | T | 2 | a0001c0001t0002g0150 a0001c0001t0011g0069 |
2 | HG02886.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.313-25263C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201003 | |||||||
| chr21:41201388 | A | G | 2 | a0001c0001t0019g0209 a0001c0001t0030g0207 |
2 | HG01109.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.313-24878A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201388 | |||||||
| chr21:41201435 | G | A | 2 | a0001c0001t0003g0096 a0001c0002t0001g0116 |
2 | NA19009.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.313-24831G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201435 | |||||||
| chr21:41201654 | C | T | 8 | a0001c0001t0002g0150 a0001c0001t0005g0009 a0001c0001t0011g0069 others(5): Show |
8 | HG02809.hp1 HG02886.hp1 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.313-24612C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201654 | |||||||
| chr21:41201662 | A | G | 100 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(97): Show |
100 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(97): Show |
intron_variant | MODIFIER | c.313-24604A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201662 | |||||||
| chr21:41201719 | G | A | 16 | a0001c0001t0003g0198 a0001c0001t0004g0073 a0001c0001t0004g0200 others(13): Show |
16 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(13): Show |
intron_variant | MODIFIER | c.313-24547G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201719 | |||||||
| chr21:41201962 | G | T | 2 | a0001c0001t0006g0058 a0001c0001t0036g0020 |
2 | HG01192.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.313-24304G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41201962 | |||||||
| chr21:41202149 | G | A | 15 | a0001c0001t0003g0198 a0001c0001t0004g0073 a0001c0001t0004g0200 others(12): Show |
15 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.313-24117G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202149 | |||||||
| chr21:41202257 | C | T | 99 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(96): Show |
99 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(96): Show |
intron_variant | MODIFIER | c.313-24009C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202257 | |||||||
| chr21:41202315 | C | T | 1 | a0001c0002t0001g0061 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.313-23951C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202315 | |||||||
| chr21:41202323 | G | T | 2 | a0001c0001t0018g0025 a0001c0001t0018g0054 |
2 | HG02738.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.313-23943G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202323 | |||||||
| chr21:41202477 | A | C | 1 | a0001c0001t0005g0241 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.313-23789A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202477 | |||||||
| chr21:41202479 | T | C | 23 | a0001c0001t0001g0187 a0001c0001t0003g0198 a0001c0001t0004g0073 others(20): Show |
23 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(20): Show |
intron_variant | MODIFIER | c.313-23787T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202479 | |||||||
| chr21:41202726 | C | G | 9 | a0001c0001t0004g0212 a0001c0001t0009g0227 a0001c0001t0019g0010 others(6): Show |
9 | HG01106.hp2 HG01109.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.313-23540C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202726 | |||||||
| chr21:41202734 | C | T | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-23532C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202734 | |||||||
| chr21:41202764 | A | G | 47 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0149 others(44): Show |
47 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.313-23502A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202764 | |||||||
| chr21:41202767 | G | A | 1 | a0001c0002t0001g0047 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.313-23499G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202767 | |||||||
| chr21:41202769 | T | G | 47 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0149 others(44): Show |
47 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.313-23497T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202769 | |||||||
| chr21:41202828 | C | T | 1 | a0001c0002t0001g0061 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.313-23438C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202828 | |||||||
| chr21:41202890 | A | C | 1 | a0001c0001t0005g0167 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.313-23376A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41202890 | |||||||
| chr21:41203241 | G | A | 16 | a0001c0001t0003g0016 a0001c0001t0003g0198 a0001c0001t0004g0073 others(13): Show |
16 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(13): Show |
intron_variant | MODIFIER | c.313-23025G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203241 | |||||||
| chr21:41203427 | C | T | 15 | a0001c0001t0003g0198 a0001c0001t0004g0073 a0001c0001t0004g0200 others(12): Show |
15 | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.313-22839C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203427 | |||||||
| chr21:41203453 | G | A | 1 | a0001c0001t0009g0043 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.313-22813G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203453 | |||||||
| chr21:41203488 | T | C | 102 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0232 others(99): Show |
102 | HG00280.hp2 HG00408.hp2 HG00642.hp1 others(99): Show |
intron_variant | MODIFIER | c.313-22778T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203488 | |||||||
| chr21:41203527 | G | A | 25 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0004g0075 others(22): Show |
25 | HG01069.hp2 HG01167.hp2 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.313-22739G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41203527 | |||||||
| chr21:41204012 | G | T | 1 | a0001c0001t0054g0191 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.313-22254G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204012 | |||||||
| chr21:41204074 | T | C | 2 | a0001c0001t0003g0158 a0001c0002t0001g0179 |
2 | NA18979.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.313-22192T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204074 | |||||||
| chr21:41204237 | C | T | 6 | a0001c0001t0002g0149 a0001c0001t0002g0157 a0001c0001t0043g0225 others(3): Show |
6 | HG00642.hp1 HG01981.hp2 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.313-22029C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204237 | |||||||
| chr21:41204348 | G | A | 7 | a0001c0001t0003g0014 a0001c0001t0004g0019 a0001c0001t0004g0130 others(4): Show |
7 | HG01074.hp2 HG01106.hp1 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-21918G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204348 | |||||||
| chr21:41204373 | A | G | 3 | a0001c0001t0001g0121 a0001c0001t0018g0025 a0001c0001t0018g0054 |
3 | HG00140.hp1 HG02738.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.313-21893A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204373 | |||||||
| chr21:41204386 | T | C | 1 | a0001c0002t0001g0180 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.313-21880T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204386 | |||||||
| chr21:41204662 | G | C | 7 | a0001c0001t0004g0184 a0001c0002t0001g0037 a0001c0002t0001g0112 others(4): Show |
7 | HG00733.hp1 HG01099.hp1 HG01361.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-21604G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204662 | |||||||
| chr21:41204728 | A | G | 9 | a0001c0001t0002g0178 a0001c0001t0004g0226 a0001c0001t0008g0011 others(6): Show |
9 | HG00408.hp2 HG02280.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.313-21538A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204728 | |||||||
| chr21:41204738 | C | T | 19 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0004g0142 others(16): Show |
19 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(16): Show |
intron_variant | MODIFIER | c.313-21528C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41204738 | |||||||
| chr21:41205037 | G | A | 33 | a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0050 others(30): Show |
35 | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(32): Show |
intron_variant | MODIFIER | c.313-21229G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205037 | |||||||
| chr21:41205077 | G | C | 1 | a0001c0001t0003g0198 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.313-21189G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205077 | |||||||
| chr21:41205370 | C | A | 49 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0004g0075 others(46): Show |
49 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(46): Show |
intron_variant | MODIFIER | c.313-20896C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205370 | |||||||
| chr21:41205477 | G | T | 3 | a0001c0001t0004g0018 a0001c0001t0004g0106 a0001c0002t0001g0105 |
3 | NA18950.hp2 NA18987.hp1 NA18987.hp2 |
intron_variant | MODIFIER | c.313-20789G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205477 | |||||||
| chr21:41205599 | C | T | 48 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0004g0075 others(45): Show |
48 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(45): Show |
intron_variant | MODIFIER | c.313-20667C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205599 | |||||||
| chr21:41205665 | G | A | 1 | a0001c0001t0017g0147 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-20601G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205665 | |||||||
| chr21:41205759 | G | T | 1 | a0001c0001t0020g0262 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.313-20507G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205759 | |||||||
| chr21:41205784 | GT | G | 3 | a0001c0002t0001g0044 a0001c0002t0022g0164 a0001c0002t0056g0181 |
3 | HG04184.hp2 NA18950.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.313-20480delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41205784 | ||||||
| chr21:41205851 | C | G | 12 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0178 others(9): Show |
12 | HG00280.hp2 HG00408.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.313-20415C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41205851 | |||||||
| chr21:41206034 | T | G | 10 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0005g0023 others(7): Show |
10 | HG01069.hp2 HG02055.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.313-20232T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206034 | |||||||
| chr21:41206471 | G | A | 101 | a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0050 others(98): Show |
103 | HG00280.hp1 HG00642.hp1 HG00642.hp2 others(100): Show |
intron_variant | MODIFIER | c.313-19795G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206471 | |||||||
| chr21:41206626 | G | A | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-19640G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206626 | |||||||
| chr21:41206662 | C | T | 7 | a0001c0001t0002g0008 a0001c0001t0002g0159 a0001c0001t0002g0190 others(4): Show |
7 | HG01243.hp2 HG02451.hp2 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.313-19604C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206662 | |||||||
| chr21:41206743 | G | A | 1 | a0001c0001t0007g0199 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-19523G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206743 | |||||||
| chr21:41206856 | C | A | 1 | a0001c0001t0001g0263 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.313-19410C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206856 | |||||||
| chr21:41206872 | GTAACT | G | 7 | a0001c0001t0005g0245 a0001c0001t0007g0003 a0001c0001t0007g0199 others(4): Show |
7 | HG00741.hp2 HG02109.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-19390_313-1938 others(9): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41206872 | ||||||
| chr21:41206877 | TTAA | T | 37 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0004g0073 others(34): Show |
37 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(34): Show |
intron_variant | MODIFIER | c.313-19388_313-1938 others(7): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41206877 | |||||||
| chr21:41207022 | T | G | 1 | a0001c0001t0002g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.313-19244T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207022 | |||||||
| chr21:41207038 | G | T | 3 | a0001c0001t0005g0009 a0001c0001t0005g0148 a0001c0001t0014g0004 |
3 | HG02965.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-19228G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207038 | |||||||
| chr21:41207073 | A | G | 1 | a0001c0003t0005g0052 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.313-19193A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207073 | |||||||
| chr21:41207100 | G | C | 4 | a0001c0001t0007g0003 a0001c0001t0011g0266 a0001c0001t0012g0138 others(1): Show |
4 | HG00741.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-19166G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207100 | |||||||
| chr21:41207103 | A | G | 3 | a0001c0001t0005g0009 a0001c0001t0005g0148 a0001c0001t0014g0004 |
3 | HG02965.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-19163A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207103 | |||||||
| chr21:41207228 | G | A | 1 | a0001c0002t0001g0056 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.313-19038G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207228 | |||||||
| chr21:41207426 | C | T | 17 | a0001c0001t0001g0187 a0001c0001t0004g0212 a0001c0001t0005g0009 others(14): Show |
17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18840C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207426 | |||||||
| chr21:41207443 | G | A | 2 | a0001c0001t0003g0060 a0001c0001t0003g0172 |
2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.313-18823G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207443 | |||||||
| chr21:41207594 | T | C | 140 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0232 others(137): Show |
142 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.313-18672T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207594 | |||||||
| chr21:41207622 | C | T | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-18644C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207622 | |||||||
| chr21:41207625 | C | T | 17 | a0001c0001t0001g0187 a0001c0001t0004g0212 a0001c0001t0005g0009 others(14): Show |
17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18641C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207625 | |||||||
| chr21:41207650 | C | T | 15 | a0001c0001t0002g0150 a0001c0001t0003g0198 a0001c0001t0006g0162 others(12): Show |
15 | HG01256.hp2 HG02109.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.313-18616C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207650 | |||||||
| chr21:41207652 | G | GGCTGTCT others(3): Show |
18 | a0001c0001t0001g0187 a0001c0001t0004g0212 a0001c0001t0005g0009 others(15): Show |
18 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-18613_313-1861 others(14): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41207652 | ||||||
| chr21:41207658 | A | G | 18 | a0001c0001t0001g0187 a0001c0001t0004g0212 a0001c0001t0005g0009 others(15): Show |
18 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-18608A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207658 | |||||||
| chr21:41207712 | G | A | 1 | a0001c0001t0013g0115 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.313-18554G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207712 | |||||||
| chr21:41207731 | C | T | 41 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0004g0073 others(38): Show |
41 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.313-18535C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207731 | |||||||
| chr21:41207740 | A | G | 18 | a0001c0001t0001g0187 a0001c0001t0004g0212 a0001c0001t0005g0009 others(15): Show |
18 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-18526A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207740 | |||||||
| chr21:41207753 | G | A | 17 | a0001c0001t0001g0187 a0001c0001t0004g0212 a0001c0001t0005g0009 others(14): Show |
17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18513G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207753 | |||||||
| chr21:41207781 | C | T | 17 | a0001c0001t0001g0187 a0001c0001t0004g0212 a0001c0001t0005g0009 others(14): Show |
17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18485C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207781 | |||||||
| chr21:41207791 | C | T | 17 | a0001c0001t0001g0187 a0001c0001t0004g0212 a0001c0001t0005g0009 others(14): Show |
17 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-18475C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207791 | |||||||
| chr21:41207802 | A | G | 3 | a0001c0001t0005g0006 a0001c0001t0005g0167 a0001c0001t0005g0238 |
3 | HG02258.hp1 HG02809.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.313-18464A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207802 | |||||||
| chr21:41207873 | G | A | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-18393G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207873 | |||||||
| chr21:41207963 | T | C | 1 | a0001c0001t0012g0143 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-18303T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41207963 | |||||||
| chr21:41208126 | G | A | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-18140G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208126 | |||||||
| chr21:41208191 | C | G | 6 | a0001c0001t0004g0212 a0001c0001t0007g0076 a0001c0001t0009g0227 others(3): Show |
6 | HG02257.hp1 HG02615.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-18075C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208191 | |||||||
| chr21:41208222 | T | C | 138 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(135): Show |
140 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.313-18044T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208222 | |||||||
| chr21:41208295 | G | A | 1 | a0001c0002t0001g0046 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.313-17971G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208295 | |||||||
| chr21:41208319 | A | G | 7 | a0001c0001t0007g0003 a0001c0001t0007g0199 a0001c0001t0011g0266 others(4): Show |
7 | HG00741.hp2 HG01106.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-17947A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208319 | |||||||
| chr21:41208338 | G | A | 67 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(64): Show |
69 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(66): Show |
intron_variant | MODIFIER | c.313-17928G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208338 | |||||||
| chr21:41208413 | C | T | 3 | a0001c0001t0003g0198 a0001c0001t0021g0028 a0001c0001t0021g0086 |
3 | HG02109.hp2 HG02258.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.313-17853C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208413 | |||||||
| chr21:41208436 | C | T | 61 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(58): Show |
63 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(60): Show |
intron_variant | MODIFIER | c.313-17830C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208436 | |||||||
| chr21:41208687 | C | T | 1 | a0001c0001t0020g0151 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.313-17579C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208687 | |||||||
| chr21:41208924 | T | C | 78 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(75): Show |
80 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(77): Show |
intron_variant | MODIFIER | c.313-17342T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208924 | |||||||
| chr21:41208999 | C | G | 6 | a0001c0001t0004g0212 a0001c0001t0007g0076 a0001c0001t0009g0227 others(3): Show |
6 | HG02257.hp1 HG02615.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-17267C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41208999 | |||||||
| chr21:41209056 | C | T | 1 | a0001c0001t0006g0252 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-17210C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209056 | |||||||
| chr21:41209061 | G | A | 1 | a0001c0001t0012g0143 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-17205G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209061 | |||||||
| chr21:41209152 | G | A | 2 | a0001c0001t0001g0232 a0001c0001t0001g0263 |
2 | HG00280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.313-17114G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209152 | |||||||
| chr21:41209284 | T | C | 133 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(130): Show |
135 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(132): Show |
intron_variant | MODIFIER | c.313-16982T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209284 | |||||||
| chr21:41209294 | C | T | 3 | a0001c0001t0005g0141 a0001c0001t0008g0253 a0001c0002t0059g0265 |
3 | HG02615.hp2 HG02622.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.313-16972C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209294 | |||||||
| chr21:41209368 | G | A | 23 | a0001c0001t0002g0150 a0001c0001t0004g0073 a0001c0001t0004g0075 others(20): Show |
23 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.313-16898G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209368 | |||||||
| chr21:41209439 | C | T | 3 | a0001c0001t0005g0009 a0001c0001t0005g0148 a0001c0001t0014g0004 |
3 | HG02965.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-16827C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209439 | |||||||
| chr21:41209474 | G | A | 1 | a0001c0002t0001g0057 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.313-16792G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209474 | |||||||
| chr21:41209498 | C | T | 71 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(68): Show |
73 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.313-16768C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209498 | |||||||
| chr21:41209521 | G | A | 94 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(91): Show |
96 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.313-16745G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209521 | |||||||
| chr21:41209555 | C | T | 1 | a0001c0001t0006g0108 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.313-16711C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209555 | |||||||
| chr21:41209602 | A | C | 114 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(111): Show |
116 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(113): Show |
intron_variant | MODIFIER | c.313-16664A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209602 | |||||||
| chr21:41209648 | A | G | 85 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(82): Show |
87 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(84): Show |
intron_variant | MODIFIER | c.313-16618A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209648 | |||||||
| chr21:41209667 | G | A | 99 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(96): Show |
101 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(98): Show |
intron_variant | MODIFIER | c.313-16599G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209667 | |||||||
| chr21:41209710 | G | T | 99 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(96): Show |
101 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(98): Show |
intron_variant | MODIFIER | c.313-16556G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209710 | |||||||
| chr21:41209718 | G | A | 1 | a0001c0001t0012g0138 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.313-16548G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209718 | |||||||
| chr21:41209740 | C | T | 1 | a0002c0005t0041g0139 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.313-16526C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209740 | |||||||
| chr21:41209776 | C | T | 99 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(96): Show |
101 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(98): Show |
intron_variant | MODIFIER | c.313-16490C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209776 | |||||||
| chr21:41209787 | C | T | 1 | a0001c0001t0002g0157 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.313-16479C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41209787 | |||||||
| chr21:41210000 | T | C | 239 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(236): Show |
241 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(238): Show |
intron_variant | MODIFIER | c.313-16266T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210000 | |||||||
| chr21:41210231 | AC | A | 94 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(91): Show |
96 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(93): Show |
intron_variant | MODIFIER | c.313-16032delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41210231 | ||||||
| chr21:41210260 | A | G | 173 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0224 others(170): Show |
174 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(171): Show |
intron_variant | MODIFIER | c.313-16006A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210260 | |||||||
| chr21:41210353 | G | A | 9 | a0001c0001t0001g0187 a0001c0001t0007g0003 a0001c0001t0007g0199 others(6): Show |
9 | HG00741.hp2 HG01106.hp2 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.313-15913G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210353 | |||||||
| chr21:41210455 | T | C | 173 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0224 others(170): Show |
174 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(171): Show |
intron_variant | MODIFIER | c.313-15811T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210455 | |||||||
| chr21:41210497 | T | C | 175 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(172): Show |
176 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(173): Show |
intron_variant | MODIFIER | c.313-15769T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210497 | |||||||
| chr21:41210593 | A | G | 94 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(91): Show |
96 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(93): Show |
intron_variant | MODIFIER | c.313-15673A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210593 | |||||||
| chr21:41210709 | A | G | 13 | a0001c0001t0003g0198 a0001c0001t0006g0162 a0001c0001t0008g0007 others(10): Show |
13 | HG01256.hp2 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-15557A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210709 | |||||||
| chr21:41210730 | T | G | 3 | a0001c0001t0009g0048 a0001c0001t0046g0267 a0001c0002t0001g0102 |
3 | HG00642.hp2 NA21309.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.313-15536T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210730 | |||||||
| chr21:41210769 | C | T | 4 | a0001c0001t0005g0009 a0001c0001t0005g0148 a0001c0001t0008g0264 others(1): Show |
4 | HG02818.hp2 HG02965.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-15497C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210769 | |||||||
| chr21:41210825 | A | G | 85 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(82): Show |
87 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(84): Show |
intron_variant | MODIFIER | c.313-15441A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41210825 | |||||||
| chr21:41211021 | C | T | 1 | a0001c0001t0003g0063 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.313-15245C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211021 | |||||||
| chr21:41211054 | A | G | 85 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(82): Show |
87 | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(84): Show |
intron_variant | MODIFIER | c.313-15212A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211054 | |||||||
| chr21:41211163 | C | A | 1 | a0001c0002t0062g0015 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.313-15103C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211163 | |||||||
| chr21:41211185 | C | G | 3 | a0001c0001t0003g0128 a0001c0002t0001g0092 a0001c0002t0001g0176 |
3 | HG02004.hp2 NA18612.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.313-15081C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211185 | |||||||
| chr21:41211209 | G | A | 22 | a0001c0001t0002g0150 a0001c0001t0004g0073 a0001c0001t0004g0075 others(19): Show |
22 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.313-15057G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211209 | |||||||
| chr21:41211227 | A | T | 44 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(41): Show |
44 | HG00280.hp2 HG00733.hp1 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.313-15039A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211227 | |||||||
| chr21:41211300 | G | A | 5 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0016g0040 others(2): Show |
5 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-14966G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211300 | |||||||
| chr21:41211498 | G | A | 1 | a0001c0002t0001g0166 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.313-14768G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211498 | |||||||
| chr21:41211696 | T | C | 18 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0005g0006 others(15): Show |
18 | HG01069.hp2 HG02055.hp2 HG02258.hp1 others(15): Show |
intron_variant | MODIFIER | c.313-14570T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211696 | |||||||
| chr21:41211811 | G | A | 117 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(114): Show |
117 | HG00280.hp2 HG00733.hp1 HG00741.hp2 others(114): Show |
intron_variant | MODIFIER | c.313-14455G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211811 | |||||||
| chr21:41211877 | G | C | 73 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(70): Show |
73 | HG00280.hp2 HG00733.hp1 HG01069.hp1 others(70): Show |
intron_variant | MODIFIER | c.313-14389G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41211877 | |||||||
| chr21:41212214 | T | C | 223 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(220): Show |
226 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.313-14052T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212214 | |||||||
| chr21:41212325 | C | G | 13 | a0001c0001t0003g0198 a0001c0001t0006g0162 a0001c0001t0008g0007 others(10): Show |
13 | HG01256.hp2 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-13941C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212325 | |||||||
| chr21:41212337 | A | G | 1 | a0001c0001t0006g0252 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-13929A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212337 | |||||||
| chr21:41212343 | C | T | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-13923C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212343 | |||||||
| chr21:41212346 | C | T | 1 | a0001c0001t0011g0069 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.313-13920C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212346 | |||||||
| chr21:41212370 | A | T | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.313-13896A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212370 | |||||||
| chr21:41212645 | G | A | 1 | a0001c0001t0004g0163 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.313-13621G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212645 | |||||||
| chr21:41212667 | G | A | 1 | a0001c0001t0005g0006 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.313-13599G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212667 | |||||||
| chr21:41212694 | A | G | 101 | a0001c0001t0001g0187 a0001c0001t0001g0232 a0001c0001t0001g0263 others(98): Show |
101 | HG00280.hp2 HG00733.hp1 HG00741.hp2 others(98): Show |
intron_variant | MODIFIER | c.313-13572A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212694 | |||||||
| chr21:41212915 | T | C | 2 | a0001c0001t0003g0154 a0001c0001t0003g0222 |
2 | HG01261.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.313-13351T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41212915 | |||||||
| chr21:41213158 | A | T | 1 | a0001c0002t0055g0185 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.313-13108A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213158 | |||||||
| chr21:41213161 | A | G | 49 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0002g0008 others(46): Show |
49 | HG00280.hp2 HG00733.hp1 HG01069.hp1 others(46): Show |
intron_variant | MODIFIER | c.313-13105A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213161 | |||||||
| chr21:41213403 | A | C | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-12863A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213403 | |||||||
| chr21:41213408 | G | GTGAGAGG others(5): Show |
9 | a0001c0001t0003g0096 a0001c0001t0045g0210 a0001c0002t0001g0098 others(6): Show |
9 | HG02056.hp1 HG02056.hp2 HG02132.hp1 others(6): Show |
intron_variant | MODIFIER | c.313-12856_313-1284 others(16): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41213408 | ||||||
| chr21:41213578 | G | T | 1 | a0001c0001t0007g0199 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-12688G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213578 | |||||||
| chr21:41213678 | G | A | 3 | a0001c0001t0011g0093 a0001c0001t0028g0081 a0001c0003t0012g0205 |
3 | HG02965.hp1 HG03540.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.313-12588G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213678 | |||||||
| chr21:41213730 | C | T | 2 | a0001c0001t0001g0249 a0001c0001t0003g0042 |
2 | HG02129.hp1 HG02129.hp2 |
intron_variant | MODIFIER | c.313-12536C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213730 | |||||||
| chr21:41213811 | G | A | 1 | a0001c0001t0004g0212 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.313-12455G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41213811 | |||||||
| chr21:41213910 | CT | C | 4 | a0001c0001t0003g0014 a0001c0001t0048g0131 a0001c0002t0001g0034 others(1): Show |
4 | HG02132.hp2 HG02602.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-12354delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41213910 | ||||||
| chr21:41214027 | G | A | 3 | a0001c0001t0007g0003 a0001c0001t0011g0266 a0001c0001t0037g0168 |
3 | HG02109.hp1 HG02559.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.313-12239G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214027 | |||||||
| chr21:41214144 | G | A | 5 | a0001c0001t0008g0078 a0001c0001t0014g0197 a0001c0001t0014g0251 others(2): Show |
5 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-12122G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214144 | |||||||
| chr21:41214203 | T | C | 144 | a0001c0001t0001g0121 a0001c0001t0001g0187 a0001c0001t0001g0232 others(141): Show |
146 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(143): Show |
intron_variant | MODIFIER | c.313-12063T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214203 | |||||||
| chr21:41214316 | G | T | 1 | a0001c0001t0012g0143 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-11950G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214316 | |||||||
| chr21:41214337 | C | T | 3 | a0001c0001t0008g0011 a0001c0001t0011g0012 a0001c0001t0031g0237 |
3 | HG02559.hp2 HG03098.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.313-11929C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214337 | |||||||
| chr21:41214421 | A | G | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-11845A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214421 | |||||||
| chr21:41214530 | T | A | 3 | a0001c0001t0002g0178 a0001c0002t0001g0082 a0001c0002t0001g0132 |
3 | HG00408.hp2 HG02083.hp2 NA18747.hp2 |
intron_variant | MODIFIER | c.313-11736T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214530 | |||||||
| chr21:41214568 | A | G | 7 | a0001c0001t0003g0014 a0001c0001t0004g0019 a0001c0001t0004g0130 others(4): Show |
7 | HG01074.hp2 HG01106.hp1 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-11698A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214568 | |||||||
| chr21:41214677 | C | T | 68 | a0001c0001t0001g0187 a0001c0001t0002g0008 a0001c0001t0002g0027 others(65): Show |
68 | HG00733.hp1 HG00741.hp2 HG01069.hp1 others(65): Show |
intron_variant | MODIFIER | c.313-11589C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214677 | |||||||
| chr21:41214889 | GAA | G | 4 | a0001c0002t0001g0122 a0001c0002t0001g0194 a0001c0002t0024g0022 others(1): Show |
4 | HG00140.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-11376_313-1137 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214889 | |||||||
| chr21:41214893 | C | A | 4 | a0001c0002t0001g0122 a0001c0002t0001g0194 a0001c0002t0024g0022 others(1): Show |
4 | HG00140.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-11373C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214893 | |||||||
| chr21:41214895 | T | A | 4 | a0001c0002t0001g0122 a0001c0002t0001g0194 a0001c0002t0024g0022 others(1): Show |
4 | HG00140.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-11371T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41214895 | |||||||
| chr21:41215109 | C | T | 22 | a0001c0001t0002g0150 a0001c0001t0004g0073 a0001c0001t0004g0075 others(19): Show |
22 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.313-11157C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215109 | |||||||
| chr21:41215180 | C | T | 2 | a0001c0001t0017g0147 a0001c0002t0058g0135 |
2 | HG01978.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.313-11086C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215180 | |||||||
| chr21:41215196 | G | C | 22 | a0001c0001t0002g0150 a0001c0001t0004g0073 a0001c0001t0004g0075 others(19): Show |
22 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.313-11070G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215196 | |||||||
| chr21:41215211 | G | A | 37 | a0001c0001t0002g0150 a0001c0001t0003g0198 a0001c0001t0004g0073 others(34): Show |
37 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.313-11055G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215211 | |||||||
| chr21:41215284 | T | G | 19 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0005g0009 others(16): Show |
19 | HG01069.hp2 HG02055.hp2 HG02572.hp1 others(16): Show |
intron_variant | MODIFIER | c.313-10982T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215284 | |||||||
| chr21:41215345 | G | A | 10 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0005g0023 others(7): Show |
10 | HG01069.hp2 HG02055.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.313-10921G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215345 | |||||||
| chr21:41215383 | C | G | 3 | a0001c0002t0001g0206 a0001c0002t0001g0250 a0001c0002t0001g0260 |
3 | HG01070.hp1 HG01168.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.313-10883C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215383 | |||||||
| chr21:41215505 | C | T | 3 | a0001c0001t0004g0216 a0001c0001t0009g0109 a0001c0001t0009g0165 |
3 | HG01934.hp2 HG02683.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.313-10761C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215505 | |||||||
| chr21:41215517 | C | T | 1 | a0001c0001t0012g0143 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-10749C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215517 | |||||||
| chr21:41215580 | C | T | 6 | a0001c0001t0007g0003 a0001c0001t0011g0266 a0001c0001t0012g0138 others(3): Show |
6 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-10686C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215580 | |||||||
| chr21:41215589 | C | T | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-10677C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215589 | |||||||
| chr21:41215682 | C | T | 1 | a0001c0001t0012g0143 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-10584C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215682 | |||||||
| chr21:41215689 | G | A | 1 | a0001c0002t0001g0092 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.313-10577G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215689 | |||||||
| chr21:41215726 | G | A | 1 | a0001c0001t0006g0252 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-10540G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215726 | |||||||
| chr21:41215737 | C | T | 4 | a0001c0001t0005g0009 a0001c0001t0005g0148 a0001c0001t0008g0264 others(1): Show |
4 | HG02818.hp2 HG02965.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-10529C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215737 | |||||||
| chr21:41215821 | C | T | 1 | a0001c0001t0005g0241 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.313-10445C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215821 | |||||||
| chr21:41215892 | G | GGT | 60 | a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0050 others(57): Show |
60 | HG00733.hp1 HG01069.hp1 HG01070.hp2 others(57): Show |
intron_variant | MODIFIER | c.313-10360_313-1035 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41215892 | ||||||
| chr21:41215909 | A | C | 17 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0005g0009 others(14): Show |
17 | HG01069.hp2 HG02055.hp2 HG02622.hp2 others(14): Show |
intron_variant | MODIFIER | c.313-10357A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215909 | |||||||
| chr21:41215927 | G | A | 1 | a0001c0002t0001g0202 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.313-10339G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41215927 | |||||||
| chr21:41216012 | A | G | 1 | a0001c0001t0017g0147 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-10254A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216012 | |||||||
| chr21:41216063 | G | A | 2 | a0001c0001t0005g0006 a0001c0001t0029g0146 |
2 | HG01106.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.313-10203G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216063 | |||||||
| chr21:41216129 | T | C | 5 | a0001c0001t0013g0115 a0001c0002t0001g0206 a0001c0002t0001g0231 others(2): Show |
5 | HG01070.hp1 HG01081.hp2 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-10137T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216129 | |||||||
| chr21:41216175 | A | G | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-10091A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216175 | |||||||
| chr21:41216303 | C | T | 6 | a0001c0001t0007g0003 a0001c0001t0011g0266 a0001c0001t0012g0138 others(3): Show |
6 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-9963C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216303 | |||||||
| chr21:41216399 | G | C | 1 | a0001c0001t0006g0252 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-9867G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216399 | |||||||
| chr21:41216450 | A | T | 109 | a0001c0001t0001g0187 a0001c0001t0002g0008 a0001c0001t0002g0027 others(106): Show |
109 | HG00733.hp1 HG00741.hp2 HG01069.hp1 others(106): Show |
intron_variant | MODIFIER | c.313-9816A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216450 | |||||||
| chr21:41216555 | G | A | 19 | a0001c0001t0002g0088 a0001c0001t0004g0026 a0001c0001t0005g0009 others(16): Show |
19 | HG01069.hp2 HG02055.hp2 HG02622.hp2 others(16): Show |
intron_variant | MODIFIER | c.313-9711G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216555 | |||||||
| chr21:41216804 | G | C | 67 | a0001c0001t0001g0187 a0001c0001t0002g0008 a0001c0001t0002g0027 others(64): Show |
67 | HG00733.hp1 HG01069.hp1 HG01070.hp2 others(64): Show |
intron_variant | MODIFIER | c.313-9462G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216804 | |||||||
| chr21:41216805 | G | A | 1 | a0001c0001t0006g0252 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-9461G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216805 | |||||||
| chr21:41216962 | C | T | 1 | a0001c0001t0012g0143 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-9304C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41216962 | |||||||
| chr21:41217005 | T | C | 1 | a0001c0002t0001g0098 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.313-9261T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217005 | |||||||
| chr21:41217089 | G | A | 1 | a0001c0002t0001g0061 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.313-9177G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217089 | |||||||
| chr21:41217175 | C | T | 1 | a0001c0003t0012g0205 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.313-9091C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217175 | |||||||
| chr21:41217275 | G | A | 1 | a0001c0001t0007g0268 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.313-8991G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217275 | |||||||
| chr21:41217457 | G | A | 40 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0263 others(37): Show |
42 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(39): Show |
intron_variant | MODIFIER | c.313-8809G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217457 | |||||||
| chr21:41217597 | G | T | 9 | a0001c0001t0004g0026 a0001c0001t0005g0023 a0001c0001t0005g0031 others(6): Show |
9 | HG02055.hp2 HG02630.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.313-8669G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217597 | |||||||
| chr21:41217601 | C | T | 2 | a0001c0001t0004g0216 a0001c0001t0009g0109 |
2 | HG01934.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.313-8665C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217601 | |||||||
| chr21:41217631 | CGTT | C | 10 | a0001c0001t0001g0187 a0001c0001t0007g0003 a0001c0001t0007g0199 others(7): Show |
10 | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.313-8632_313-8630d others(5): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41217631 | ||||||
| chr21:41217648 | C | T | 1 | a0001c0001t0006g0162 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.313-8618C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217648 | |||||||
| chr21:41217660 | T | C | 1 | a0001c0001t0009g0109 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.313-8606T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217660 | |||||||
| chr21:41217766 | G | T | 124 | a0001c0001t0001g0121 a0001c0001t0001g0187 a0001c0001t0001g0232 others(121): Show |
126 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(123): Show |
intron_variant | MODIFIER | c.313-8500G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217766 | |||||||
| chr21:41217830 | C | T | 1 | a0001c0001t0004g0039 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.313-8436C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217830 | |||||||
| chr21:41217866 | G | A | 21 | a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0200 others(18): Show |
21 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(18): Show |
intron_variant | MODIFIER | c.313-8400G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41217866 | |||||||
| chr21:41218014 | T | A | 1 | a0001c0001t0003g0063 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.313-8252T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218014 | |||||||
| chr21:41218035 | C | G | 1 | a0001c0001t0007g0199 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-8231C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218035 | |||||||
| chr21:41218092 | G | A | 2 | a0001c0001t0004g0184 a0001c0001t0014g0004 |
2 | NA19063.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-8174G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218092 | |||||||
| chr21:41218318 | A | T | 1 | a0001c0001t0007g0113 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.313-7948A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218318 | |||||||
| chr21:41218333 | A | T | 1 | a0001c0002t0026g0053 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.313-7933A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218333 | |||||||
| chr21:41218388 | A | G | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-7878A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218388 | |||||||
| chr21:41218414 | G | A | 1 | a0001c0001t0017g0147 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-7852G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218414 | |||||||
| chr21:41218415 | C | A | 1 | a0001c0001t0017g0147 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-7851C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218415 | |||||||
| chr21:41218556 | A | G | 1 | a0001c0002t0058g0135 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.313-7710A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218556 | |||||||
| chr21:41218636 | C | T | 2 | a0001c0002t0001g0107 a0001c0002t0003g0174 |
2 | NA18939.hp1 NA18939.hp2 |
intron_variant | MODIFIER | c.313-7630C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218636 | |||||||
| chr21:41218869 | C | CTT | 64 | a0001c0001t0001g0187 a0001c0001t0002g0008 a0001c0001t0002g0027 others(61): Show |
64 | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(61): Show |
intron_variant | MODIFIER | c.313-7386_313-7385d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41218869 | ||||||
| chr21:41218869 | C | CTTT | 57 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0263 others(54): Show |
59 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(56): Show |
intron_variant | MODIFIER | c.313-7387_313-7385d others(5): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41218869 | ||||||
| chr21:41218894 | C | T | 1 | a0001c0001t0017g0147 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.313-7372C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218894 | |||||||
| chr21:41218895 | G | A | 41 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0263 others(38): Show |
43 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(40): Show |
intron_variant | MODIFIER | c.313-7371G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41218895 | |||||||
| chr21:41219138 | G | A | 1 | a0001c0002t0062g0015 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.313-7128G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219138 | |||||||
| chr21:41219151 | G | A | 54 | a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0050 others(51): Show |
54 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(51): Show |
intron_variant | MODIFIER | c.313-7115G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219151 | |||||||
| chr21:41219153 | G | A | 1 | a0001c0001t0003g0222 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.313-7113G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219153 | |||||||
| chr21:41219684 | G | A | 128 | a0001c0001t0001g0121 a0001c0001t0001g0187 a0001c0001t0001g0232 others(125): Show |
130 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.313-6582G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219684 | |||||||
| chr21:41219721 | G | T | 1 | a0001c0002t0001g0206 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.313-6545G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219721 | |||||||
| chr21:41219722 | A | T | 1 | a0001c0002t0001g0206 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.313-6544A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219722 | |||||||
| chr21:41219726 | C | T | 1 | a0001c0002t0001g0056 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.313-6540C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219726 | |||||||
| chr21:41219834 | T | C | 1 | a0001c0002t0001g0175 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.313-6432T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219834 | |||||||
| chr21:41219940 | G | T | 2 | a0001c0001t0004g0216 a0001c0001t0009g0109 |
2 | HG01934.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.313-6326G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219940 | |||||||
| chr21:41219952 | C | T | 1 | a0001c0001t0005g0009 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.313-6314C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41219952 | |||||||
| chr21:41220064 | T | C | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-6202T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220064 | |||||||
| chr21:41220143 | C | T | 14 | a0001c0001t0003g0198 a0001c0001t0006g0162 a0001c0001t0007g0076 others(11): Show |
14 | HG01256.hp2 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.313-6123C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220143 | |||||||
| chr21:41220167 | GAT | G | 61 | a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0050 others(58): Show |
61 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(58): Show |
intron_variant | MODIFIER | c.313-6098_313-6097d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220167 | |||||||
| chr21:41220215 | C | A | 1 | a0001c0001t0006g0252 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-6051C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220215 | |||||||
| chr21:41220435 | C | A | 1 | a0001c0001t0007g0199 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-5831C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220435 | |||||||
| chr21:41220504 | T | G | 3 | a0001c0001t0004g0026 a0001c0001t0005g0031 a0001c0001t0005g0070 |
3 | HG02630.hp2 HG02723.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.313-5762T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220504 | |||||||
| chr21:41220668 | T | C | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-5598T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220668 | |||||||
| chr21:41220708 | T | TTA | 2 | a0001c0001t0012g0143 a0001c0001t0017g0147 |
2 | HG02572.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.313-5550_313-5549d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41220708 | ||||||
| chr21:41220773 | C | T | 9 | a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0200 others(6): Show |
9 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.313-5493C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220773 | |||||||
| chr21:41220948 | A | G | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.313-5318A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41220948 | |||||||
| chr21:41221044 | T | TA | 47 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0027 others(44): Show |
48 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.313-5204dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221044 | ||||||
| chr21:41221044 | TA | T | 58 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0263 others(55): Show |
60 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(57): Show |
intron_variant | MODIFIER | c.313-5204delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221044 | ||||||
| chr21:41221197 | G | A | 6 | a0001c0001t0005g0148 a0001c0001t0007g0199 a0001c0001t0007g0242 others(3): Show |
6 | HG02572.hp1 HG02886.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.313-5069G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221197 | |||||||
| chr21:41221206 | C | T | 2 | a0001c0001t0001g0187 a0001c0002t0001g0247 |
2 | HG02602.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.313-5060C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221206 | |||||||
| chr21:41221347 | A | C | 1 | a0001c0002t0022g0183 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.313-4919A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221347 | |||||||
| chr21:41221488 | T | C | 2 | a0001c0001t0004g0163 a0001c0001t0009g0043 |
2 | HG01952.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.313-4778T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221488 | |||||||
| chr21:41221563 | C | T | 1 | a0001c0001t0039g0005 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.313-4703C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221563 | |||||||
| chr21:41221593 | C | A | 13 | a0001c0001t0004g0212 a0001c0001t0006g0252 a0001c0001t0007g0199 others(10): Show |
13 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-4673C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221593 | |||||||
| chr21:41221594 | A | G | 13 | a0001c0001t0004g0212 a0001c0001t0006g0252 a0001c0001t0007g0199 others(10): Show |
13 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-4672A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221594 | |||||||
| chr21:41221596 | A | C | 13 | a0001c0001t0004g0212 a0001c0001t0006g0252 a0001c0001t0007g0199 others(10): Show |
13 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-4670A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221596 | |||||||
| chr21:41221600 | T | C | 44 | a0001c0001t0003g0014 a0001c0001t0003g0198 a0001c0001t0004g0184 others(41): Show |
44 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(41): Show |
intron_variant | MODIFIER | c.313-4666T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221600 | |||||||
| chr21:41221608 | G | A | 38 | a0001c0001t0003g0198 a0001c0001t0004g0184 a0001c0001t0004g0212 others(35): Show |
38 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(35): Show |
intron_variant | MODIFIER | c.313-4658G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221608 | |||||||
| chr21:41221621 | C | G | 4 | a0001c0001t0008g0087 a0001c0001t0011g0072 a0001c0001t0012g0153 others(1): Show |
4 | HG02451.hp1 HG02970.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-4645C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221621 | |||||||
| chr21:41221621 | C | T | 12 | a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0050 others(9): Show |
12 | HG01243.hp2 HG01361.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.313-4645C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221621 | |||||||
| chr21:41221653 | G | A | 3 | a0001c0001t0003g0198 a0001c0001t0027g0192 a0001c0002t0001g0203 |
3 | HG02258.hp2 HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.313-4613G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221653 | |||||||
| chr21:41221661 | TAA | T | 3 | a0001c0001t0003g0198 a0001c0001t0027g0192 a0001c0002t0001g0203 |
3 | HG02258.hp2 HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.313-4599_313-4598d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221661 | ||||||
| chr21:41221684 | T | C | 1 | a0001c0003t0012g0205 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.313-4582T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221684 | |||||||
| chr21:41221697 | G | A | 1 | a0001c0001t0001g0258 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.313-4569G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221697 | |||||||
| chr21:41221721 | G | A | 1 | a0001c0002t0060g0144 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.313-4545G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221721 | |||||||
| chr21:41221776 | T | C | 1 | a0001c0001t0012g0143 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-4490T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221776 | |||||||
| chr21:41221782 | A | C | 2 | a0001c0001t0003g0014 a0001c0001t0012g0143 |
2 | HG02572.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.313-4484A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221782 | |||||||
| chr21:41221783 | G | C | 1 | a0001c0001t0012g0143 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-4483G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221783 | |||||||
| chr21:41221784 | A | C | 1 | a0001c0001t0012g0143 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.313-4482A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221784 | |||||||
| chr21:41221784 | A | T | 1 | a0001c0001t0003g0014 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.313-4482A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221784 | |||||||
| chr21:41221827 | C | CA | 17 | a0001c0001t0003g0063 a0001c0001t0004g0216 a0001c0001t0009g0043 others(14): Show |
17 | HG00140.hp2 HG01261.hp2 HG01934.hp1 others(14): Show |
intron_variant | MODIFIER | c.313-4415dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | ||||||
| chr21:41221827 | C | CAAAA | 8 | a0001c0001t0007g0003 a0001c0001t0011g0266 a0001c0001t0012g0138 others(5): Show |
8 | HG00741.hp2 HG01106.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.313-4418_313-4415d others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | ||||||
| chr21:41221827 | CAAAAAA | C | 51 | a0001c0001t0001g0121 a0001c0001t0001g0187 a0001c0001t0001g0232 others(48): Show |
53 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(50): Show |
intron_variant | MODIFIER | c.313-4420_313-4415d others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | ||||||
| chr21:41221827 | CAAAAAAA | C | 43 | a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0050 others(40): Show |
43 | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.313-4421_313-4415d others(9): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | ||||||
| chr21:41221827 | CAAAAAAA others(6): Show |
C | 11 | a0001c0001t0006g0162 a0001c0001t0007g0076 a0001c0001t0007g0242 others(8): Show |
11 | HG01256.hp2 HG02109.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.313-4427_313-4415d others(15): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41221827 | ||||||
| chr21:41221936 | G | A | 2 | a0001c0001t0003g0014 a0001c0002t0001g0229 |
2 | HG03831.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.313-4330G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221936 | |||||||
| chr21:41221983 | C | T | 2 | a0001c0001t0014g0004 a0001c0001t0017g0147 |
2 | HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-4283C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41221983 | |||||||
| chr21:41222046 | G | A | 2 | a0001c0001t0003g0198 a0001c0001t0027g0192 |
2 | HG02258.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.313-4220G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222046 | |||||||
| chr21:41222131 | G | C | 141 | a0001c0001t0001g0121 a0001c0001t0001g0187 a0001c0001t0001g0232 others(138): Show |
144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.313-4135G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222131 | |||||||
| chr21:41222142 | G | A | 6 | a0001c0001t0004g0212 a0001c0001t0009g0227 a0001c0001t0011g0093 others(3): Show |
6 | HG02615.hp1 HG02922.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-4124G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222142 | |||||||
| chr21:41222365 | C | T | 1 | a0001c0001t0020g0151 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.313-3901C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222365 | |||||||
| chr21:41222366 | G | A | 3 | a0001c0001t0003g0060 a0001c0001t0003g0172 a0001c0001t0048g0131 |
3 | HG01256.hp1 HG01258.hp1 HG02602.hp1 |
intron_variant | MODIFIER | c.313-3900G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222366 | |||||||
| chr21:41222434 | G | T | 1 | a0001c0001t0006g0252 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.313-3832G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222434 | |||||||
| chr21:41222499 | T | A | 8 | a0001c0001t0003g0198 a0001c0001t0004g0212 a0001c0001t0006g0162 others(5): Show |
8 | HG01256.hp2 HG02258.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.313-3767T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222499 | |||||||
| chr21:41222561 | A | G | 1 | a0001c0001t0039g0005 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.313-3705A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222561 | |||||||
| chr21:41222599 | A | G | 1 | a0001c0002t0001g0254 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.313-3667A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222599 | |||||||
| chr21:41222649 | C | G | 2 | a0001c0001t0002g0234 a0001c0002t0001g0056 |
2 | NA18959.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.313-3617C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222649 | |||||||
| chr21:41222728 | G | A | 5 | a0001c0001t0003g0014 a0001c0001t0016g0040 a0001c0001t0016g0118 others(2): Show |
5 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-3538G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222728 | |||||||
| chr21:41222751 | G | A | 3 | a0001c0001t0004g0019 a0001c0001t0004g0130 a0001c0002t0001g0156 |
3 | HG01074.hp2 HG01106.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.313-3515G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222751 | |||||||
| chr21:41222917 | G | A | 1 | a0001c0001t0011g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.313-3349G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222917 | |||||||
| chr21:41222972 | T | C | 4 | a0001c0001t0004g0212 a0001c0001t0009g0227 a0001c0001t0019g0010 others(1): Show |
4 | HG02615.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-3294T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41222972 | |||||||
| chr21:41223103 | C | T | 4 | a0001c0001t0004g0212 a0001c0001t0009g0227 a0001c0001t0019g0010 others(1): Show |
4 | HG02615.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-3163C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223103 | |||||||
| chr21:41223242 | G | A | 1 | a0001c0001t0006g0162 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.313-3024G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223242 | |||||||
| chr21:41223249 | T | C | 127 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0002g0002 others(124): Show |
130 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(127): Show |
intron_variant | MODIFIER | c.313-3017T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223249 | |||||||
| chr21:41223353 | C | CA | 8 | a0001c0001t0003g0198 a0001c0001t0004g0097 a0001c0001t0004g0184 others(5): Show |
8 | HG00408.hp1 HG02258.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.313-2899dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41223353 | ||||||
| chr21:41223353 | CA | C | 63 | a0001c0001t0001g0171 a0001c0001t0002g0002 a0001c0001t0003g0126 others(60): Show |
66 | HG00738.hp2 HG01070.hp2 HG01071.hp2 others(63): Show |
intron_variant | MODIFIER | c.313-2899delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41223353 | ||||||
| chr21:41223380 | A | G | 1 | a0001c0002t0001g0041 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.313-2886A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223380 | |||||||
| chr21:41223579 | G | A | 2 | a0001c0001t0007g0076 a0001c0001t0033g0038 |
2 | HG02896.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.313-2687G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223579 | |||||||
| chr21:41223604 | C | T | 3 | a0001c0002t0023g0095 a0001c0002t0023g0193 a0001c0002t0026g0053 |
3 | HG02683.hp1 HG02738.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.313-2662C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223604 | |||||||
| chr21:41223693 | A | G | 1 | a0001c0001t0007g0113 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.313-2573A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223693 | |||||||
| chr21:41223765 | T | A | 16 | a0001c0001t0005g0009 a0001c0001t0006g0162 a0001c0001t0007g0051 others(13): Show |
16 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(13): Show |
intron_variant | MODIFIER | c.313-2501T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223765 | |||||||
| chr21:41223823 | G | A | 3 | a0001c0001t0001g0224 a0001c0001t0003g0154 a0001c0001t0003g0222 |
3 | HG01175.hp2 HG01261.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.313-2443G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223823 | |||||||
| chr21:41223963 | G | A | 44 | a0001c0001t0001g0171 a0001c0001t0002g0002 a0001c0001t0003g0126 others(41): Show |
47 | HG00738.hp2 HG01081.hp2 HG01106.hp2 others(44): Show |
intron_variant | MODIFIER | c.313-2303G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41223963 | |||||||
| chr21:41224041 | G | A | 2 | a0001c0001t0007g0076 a0001c0001t0033g0038 |
2 | HG02896.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.313-2225G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224041 | |||||||
| chr21:41224159 | A | G | 7 | a0001c0001t0005g0141 a0001c0001t0005g0245 a0001c0001t0008g0078 others(4): Show |
7 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-2107A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224159 | |||||||
| chr21:41224209 | A | AT | 20 | a0001c0001t0001g0249 a0001c0001t0002g0008 a0001c0001t0002g0190 others(17): Show |
20 | HG00741.hp1 HG01099.hp1 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.313-2034dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | ||||||
| chr21:41224209 | A | ATTT | 17 | a0001c0001t0005g0009 a0001c0001t0007g0051 a0001c0001t0007g0080 others(14): Show |
17 | HG01070.hp2 HG01071.hp2 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.313-2036_313-2034d others(5): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | ||||||
| chr21:41224209 | A | ATTTTT | 26 | a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0088 others(23): Show |
26 | HG00280.hp1 HG00408.hp2 HG01069.hp2 others(23): Show |
intron_variant | MODIFIER | c.313-2038_313-2034d others(7): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | ||||||
| chr21:41224209 | A | ATTTTTT | 30 | a0001c0001t0002g0002 a0001c0001t0003g0228 a0001c0001t0004g0075 others(27): Show |
33 | HG00738.hp2 HG00741.hp2 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.313-2039_313-2034d others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | ||||||
| chr21:41224209 | A | ATTTTTTT | 10 | a0001c0001t0001g0171 a0001c0001t0003g0126 a0001c0001t0004g0212 others(7): Show |
10 | HG01109.hp2 HG02074.hp1 HG02074.hp2 others(7): Show |
intron_variant | MODIFIER | c.313-2040_313-2034d others(9): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | ||||||
| chr21:41224209 | AT | A | 25 | a0001c0001t0003g0198 a0001c0001t0005g0141 a0001c0001t0005g0148 others(22): Show |
25 | HG01167.hp2 HG01169.hp2 HG02145.hp1 others(22): Show |
intron_variant | MODIFIER | c.313-2034delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41224209 | ||||||
| chr21:41224221 | TTTTTTTT others(5): Show |
T | 1 | a0001c0002t0001g0235 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.313-2044_313-2033d others(14): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224221 | |||||||
| chr21:41224549 | C | G | 1 | a0001c0002t0001g0176 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.313-1717C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224549 | |||||||
| chr21:41224553 | G | A | 4 | a0001c0001t0014g0004 a0001c0001t0017g0147 a0001c0001t0017g0269 others(1): Show |
4 | HG02723.hp1 HG03098.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-1713G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224553 | |||||||
| chr21:41224592 | A | G | 1 | a0001c0002t0001g0176 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.313-1674A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224592 | |||||||
| chr21:41224674 | G | A | 7 | a0001c0001t0005g0141 a0001c0001t0005g0245 a0001c0001t0008g0078 others(4): Show |
7 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-1592G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224674 | |||||||
| chr21:41224910 | G | C | 144 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0232 others(141): Show |
147 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.313-1356G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41224910 | |||||||
| chr21:41225058 | C | A | 1 | a0001c0002t0001g0056 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.313-1208C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225058 | |||||||
| chr21:41225090 | C | T | 5 | a0001c0001t0004g0212 a0001c0001t0009g0227 a0001c0001t0019g0010 others(2): Show |
5 | HG01106.hp2 HG02615.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-1176C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225090 | |||||||
| chr21:41225129 | G | A | 1 | a0001c0001t0004g0075 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.313-1137G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225129 | |||||||
| chr21:41225233 | CA | C | 40 | a0001c0001t0001g0171 a0001c0001t0002g0002 a0001c0001t0003g0126 others(37): Show |
43 | HG00738.hp2 HG01081.hp2 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.313-1017delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41225233 | ||||||
| chr21:41225248 | A | T | 2 | a0001c0001t0003g0014 a0001c0002t0001g0057 |
2 | HG01934.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.313-1018A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225248 | |||||||
| chr21:41225249 | AT | A | 7 | a0001c0001t0005g0141 a0001c0001t0005g0245 a0001c0001t0008g0078 others(4): Show |
7 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-1016delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225249 | |||||||
| chr21:41225320 | A | G | 1 | a0001c0001t0006g0162 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.313-946A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225320 | |||||||
| chr21:41225349 | G | A | 1 | a0001c0001t0001g0224 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.313-917G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225349 | |||||||
| chr21:41225355 | T | C | 5 | a0001c0001t0004g0212 a0001c0001t0009g0227 a0001c0001t0019g0010 others(2): Show |
5 | HG01106.hp2 HG02615.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-911T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225355 | |||||||
| chr21:41225441 | A | G | 1 | a0001c0001t0039g0005 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.313-825A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225441 | |||||||
| chr21:41225460 | T | C | 35 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(32): Show |
intron_variant | MODIFIER | c.313-806T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225460 | |||||||
| chr21:41225588 | G | C | 1 | a0001c0001t0006g0162 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.313-678G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225588 | |||||||
| chr21:41225588 | G | T | 1 | a0001c0001t0005g0160 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.313-678G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225588 | |||||||
| chr21:41225805 | G | A | 7 | a0001c0001t0005g0141 a0001c0001t0005g0245 a0001c0001t0008g0078 others(4): Show |
7 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-461G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225805 | |||||||
| chr21:41225877 | C | A | 2 | a0001c0001t0011g0093 a0001c0001t0020g0151 |
2 | HG03195.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.313-389C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41225877 | |||||||
| chr21:41226141 | C | CT | 58 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(55): Show |
58 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(55): Show |
intron_variant | MODIFIER | c.313-116dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41226141 | ||||||
| chr21:41226141 | CT | C | 45 | a0001c0001t0002g0002 a0001c0001t0003g0228 a0001c0001t0004g0073 others(42): Show |
48 | HG00738.hp2 HG01081.hp2 HG01109.hp1 others(45): Show |
intron_variant | MODIFIER | c.313-116delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | 41226141 | ||||||
| chr21:41226179 | T | G | 11 | a0001c0001t0005g0141 a0001c0001t0005g0245 a0001c0001t0008g0078 others(8): Show |
11 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.313-87T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | 41226179 | |||||||
| chr21:41226469 | A | G | 64 | a0001c0001t0002g0002 a0001c0001t0003g0228 a0001c0001t0004g0073 others(61): Show |
67 | HG00738.hp2 HG01070.hp2 HG01071.hp2 others(64): Show |
intron_variant | MODIFIER | c.401+115A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41226469 | |||||||
| chr21:41226835 | G | A | 2 | a0001c0001t0014g0004 a0001c0001t0039g0005 |
2 | HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.401+481G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41226835 | |||||||
| chr21:41226960 | T | G | 119 | a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0066 others(116): Show |
122 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(119): Show |
intron_variant | MODIFIER | c.401+606T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41226960 | |||||||
| chr21:41227012 | G | A | 1 | a0001c0001t0028g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.401+658G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227012 | |||||||
| chr21:41227032 | G | A | 1 | a0001c0001t0002g0234 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.401+678G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227032 | |||||||
| chr21:41227291 | T | A | 49 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(46): Show |
49 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.401+937T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227291 | |||||||
| chr21:41227313 | C | T | 7 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0263 others(4): Show |
7 | HG00140.hp1 HG00280.hp2 HG01074.hp2 others(4): Show |
intron_variant | MODIFIER | c.401+959C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227313 | |||||||
| chr21:41227409 | T | C | 1 | a0001c0006t0052g0261 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.401+1055T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227409 | |||||||
| chr21:41227437 | A | G | 121 | a0001c0001t0001g0171 a0001c0001t0002g0002 a0001c0001t0002g0036 others(118): Show |
124 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(121): Show |
intron_variant | MODIFIER | c.401+1083A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227437 | |||||||
| chr21:41227554 | C | T | 3 | a0001c0001t0003g0128 a0001c0002t0001g0044 a0001c0002t0056g0181 |
3 | HG02004.hp2 NA18950.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.401+1200C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227554 | |||||||
| chr21:41227672 | C | T | 1 | a0001c0001t0003g0222 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.401+1318C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227672 | |||||||
| chr21:41227860 | G | C | 27 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(24): Show |
27 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.401+1506G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227860 | |||||||
| chr21:41227883 | G | A | 2 | a0001c0001t0005g0141 a0001c0001t0008g0253 |
2 | HG02622.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.401+1529G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227883 | |||||||
| chr21:41227916 | C | T | 38 | a0001c0001t0002g0002 a0001c0001t0003g0228 a0001c0001t0004g0073 others(35): Show |
41 | HG00738.hp2 HG01081.hp2 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.401+1562C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227916 | |||||||
| chr21:41227945 | C | T | 1 | a0001c0002t0001g0231 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.401+1591C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41227945 | |||||||
| chr21:41228065 | C | T | 1 | a0001c0002t0001g0098 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.401+1711C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41228065 | |||||||
| chr21:41228244 | C | T | 2 | a0001c0001t0011g0093 a0001c0001t0020g0151 |
2 | HG03195.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.401+1890C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41228244 | |||||||
| chr21:41228262 | C | T | 1 | a0001c0001t0002g0157 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.401+1908C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41228262 | |||||||
| chr21:41228695 | C | T | 1 | a0001c0002t0001g0119 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.401+2341C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41228695 | |||||||
| chr21:41229007 | G | A | 27 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(24): Show |
27 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.401+2653G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229007 | |||||||
| chr21:41229043 | G | C | 1 | a0001c0001t0006g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.401+2689G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229043 | |||||||
| chr21:41229099 | A | G | 29 | a0001c0001t0003g0198 a0001c0001t0005g0006 a0001c0001t0005g0009 others(26): Show |
29 | HG02055.hp2 HG02109.hp2 HG02145.hp1 others(26): Show |
intron_variant | MODIFIER | c.401+2745A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229099 | |||||||
| chr21:41229287 | G | A | 117 | a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0066 others(114): Show |
120 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(117): Show |
intron_variant | MODIFIER | c.401+2933G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229287 | |||||||
| chr21:41229338 | A | G | 10 | a0001c0001t0007g0051 a0001c0001t0007g0080 a0001c0001t0007g0090 others(7): Show |
10 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.401+2984A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229338 | |||||||
| chr21:41229644 | ACC | A | 33 | a0001c0001t0003g0198 a0001c0001t0004g0212 a0001c0001t0005g0006 others(30): Show |
33 | HG01106.hp2 HG02055.hp2 HG02109.hp2 others(30): Show |
intron_variant | MODIFIER | c.401+3291_401+3292d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229644 | |||||||
| chr21:41229814 | A | G | 68 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(65): Show |
68 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(65): Show |
intron_variant | MODIFIER | c.401+3460A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229814 | |||||||
| chr21:41229853 | T | C | 10 | a0001c0001t0007g0051 a0001c0001t0007g0080 a0001c0001t0007g0090 others(7): Show |
10 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.401+3499T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229853 | |||||||
| chr21:41229918 | G | A | 1 | a0001c0001t0008g0255 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.401+3564G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229918 | |||||||
| chr21:41229925 | C | A | 2 | a0001c0001t0003g0158 a0001c0002t0001g0179 |
2 | NA18979.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.401+3571C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41229925 | |||||||
| chr21:41230132 | C | T | 1 | a0001c0001t0005g0006 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.401+3778C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230132 | |||||||
| chr21:41230149 | G | A | 1 | a0001c0002t0055g0185 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.401+3795G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230149 | |||||||
| chr21:41230161 | A | G | 34 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(31): Show |
34 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(31): Show |
intron_variant | MODIFIER | c.401+3807A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230161 | |||||||
| chr21:41230217 | G | A | 1 | a0001c0001t0003g0016 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.401+3863G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230217 | |||||||
| chr21:41230416 | C | T | 5 | a0001c0002t0001g0041 a0001c0002t0001g0065 a0001c0002t0001g0233 others(2): Show |
5 | HG01261.hp2 HG01952.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.401+4062C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230416 | |||||||
| chr21:41230808 | A | G | 67 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(64): Show |
67 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.401+4454A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230808 | |||||||
| chr21:41230874 | T | C | 4 | a0001c0001t0008g0078 a0001c0001t0014g0197 a0001c0001t0014g0251 others(1): Show |
4 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.401+4520T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41230874 | |||||||
| chr21:41231458 | G | A | 1 | a0001c0002t0001g0056 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.401+5104G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41231458 | |||||||
| chr21:41231985 | G | A | 1 | a0001c0001t0042g0244 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.402-5528G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41231985 | |||||||
| chr21:41232020 | CT | C | 40 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(37): Show |
40 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(37): Show |
intron_variant | MODIFIER | c.402-5476delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232020 | ||||||
| chr21:41232020 | CTT | C | 33 | a0001c0001t0003g0198 a0001c0001t0004g0212 a0001c0001t0005g0006 others(30): Show |
33 | HG01106.hp2 HG01256.hp2 HG02055.hp2 others(30): Show |
intron_variant | MODIFIER | c.402-5477_402-5476d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232020 | ||||||
| chr21:41232576 | G | C | 1 | a0001c0001t0004g0097 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.402-4937G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232576 | |||||||
| chr21:41232597 | C | T | 9 | a0001c0001t0007g0051 a0001c0001t0007g0080 a0001c0001t0007g0090 others(6): Show |
9 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.402-4916C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232597 | |||||||
| chr21:41232598 | G | A | 2 | a0001c0001t0012g0138 a0001c0001t0042g0244 |
2 | HG00741.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.402-4915G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232598 | |||||||
| chr21:41232691 | C | A | 2 | a0001c0002t0001g0107 a0001c0002t0003g0174 |
2 | NA18939.hp1 NA18939.hp2 |
intron_variant | MODIFIER | c.402-4822C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232691 | |||||||
| chr21:41232699 | C | T | 9 | a0001c0001t0007g0051 a0001c0001t0007g0080 a0001c0001t0007g0090 others(6): Show |
9 | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.402-4814C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232699 | |||||||
| chr21:41232868 | A | AT | 28 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0002g0002 others(25): Show |
31 | HG00738.hp2 HG01081.hp2 HG01175.hp1 others(28): Show |
intron_variant | MODIFIER | c.402-4627dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232868 | ||||||
| chr21:41232868 | A | ATT | 28 | a0001c0001t0002g0036 a0001c0001t0002g0066 a0001c0001t0002g0074 others(25): Show |
28 | HG00280.hp1 HG00408.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.402-4628_402-4627d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232868 | ||||||
| chr21:41232868 | AT | A | 24 | a0001c0001t0003g0060 a0001c0001t0003g0172 a0001c0001t0004g0212 others(21): Show |
24 | HG01106.hp2 HG01167.hp2 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.402-4627delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41232868 | ||||||
| chr21:41232899 | C | T | 4 | a0001c0001t0014g0004 a0001c0001t0017g0147 a0001c0001t0017g0269 others(1): Show |
4 | HG02723.hp1 HG03098.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.402-4614C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232899 | |||||||
| chr21:41232954 | C | T | 1 | a0001c0001t0028g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.402-4559C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232954 | |||||||
| chr21:41232955 | A | G | 1 | a0001c0001t0028g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.402-4558A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41232955 | |||||||
| chr21:41233017 | C | T | 1 | a0001c0001t0042g0244 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.402-4496C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233017 | |||||||
| chr21:41233034 | A | G | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.402-4479A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233034 | |||||||
| chr21:41233070 | G | A | 2 | a0001c0002t0001g0112 a0001c0002t0001g0223 |
2 | HG01361.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.402-4443G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233070 | |||||||
| chr21:41233184 | G | T | 1 | a0001c0001t0011g0069 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.402-4329G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233184 | |||||||
| chr21:41233289 | A | G | 39 | a0001c0001t0003g0198 a0001c0001t0004g0212 a0001c0001t0005g0006 others(36): Show |
39 | HG01106.hp2 HG02055.hp2 HG02109.hp2 others(36): Show |
intron_variant | MODIFIER | c.402-4224A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233289 | |||||||
| chr21:41233346 | C | T | 33 | a0001c0001t0003g0198 a0001c0001t0004g0212 a0001c0001t0005g0006 others(30): Show |
33 | HG01106.hp2 HG02055.hp2 HG02109.hp2 others(30): Show |
intron_variant | MODIFIER | c.402-4167C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233346 | |||||||
| chr21:41233379 | G | GTC | 39 | a0001c0001t0003g0198 a0001c0001t0004g0212 a0001c0001t0005g0006 others(36): Show |
39 | HG01106.hp2 HG02055.hp2 HG02109.hp2 others(36): Show |
intron_variant | MODIFIER | c.402-4133_402-4132d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41233379 | ||||||
| chr21:41233415 | A | G | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.402-4098A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233415 | |||||||
| chr21:41233581 | A | G | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.402-3932A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233581 | |||||||
| chr21:41233698 | C | T | 1 | a0001c0001t0008g0011 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.402-3815C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233698 | |||||||
| chr21:41233830 | A | T | 2 | a0001c0001t0007g0076 a0001c0001t0033g0038 |
2 | HG02896.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.402-3683A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233830 | |||||||
| chr21:41233919 | G | C | 70 | a0001c0001t0001g0121 a0001c0001t0002g0002 a0001c0001t0002g0036 others(67): Show |
73 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(70): Show |
intron_variant | MODIFIER | c.402-3594G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233919 | |||||||
| chr21:41233996 | G | A | 2 | a0001c0002t0001g0235 a0001c0002t0001g0257 |
2 | HG02132.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.402-3517G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41233996 | |||||||
| chr21:41234127 | G | A | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.402-3386G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234127 | |||||||
| chr21:41234223 | T | A | 26 | a0001c0001t0002g0088 a0001c0001t0002g0149 a0001c0001t0002g0155 others(23): Show |
26 | HG00280.hp1 HG01069.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.402-3290T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234223 | |||||||
| chr21:41234265 | C | T | 1 | a0001c0001t0039g0005 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.402-3248C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234265 | |||||||
| chr21:41234266 | G | A | 5 | a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0008g0035 others(2): Show |
5 | HG01167.hp1 HG01361.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.402-3247G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234266 | |||||||
| chr21:41234295 | C | T | 124 | a0001c0001t0001g0121 a0001c0001t0002g0002 a0001c0001t0002g0036 others(121): Show |
127 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(124): Show |
intron_variant | MODIFIER | c.402-3218C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234295 | |||||||
| chr21:41234374 | C | G | 11 | a0001c0001t0005g0141 a0001c0001t0007g0076 a0001c0001t0008g0078 others(8): Show |
11 | HG01167.hp2 HG01169.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.402-3139C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234374 | |||||||
| chr21:41234466 | A | G | 38 | a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(35): Show |
38 | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(35): Show |
intron_variant | MODIFIER | c.402-3047A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234466 | |||||||
| chr21:41234597 | C | G | 138 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0263 others(135): Show |
141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.402-2916C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234597 | |||||||
| chr21:41234622 | T | A | 1 | a0001c0002t0001g0132 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.402-2891T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234622 | |||||||
| chr21:41234678 | G | A | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.402-2835G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234678 | |||||||
| chr21:41234707 | A | C | 2 | a0001c0001t0005g0167 a0001c0001t0005g0238 |
2 | HG02809.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.402-2806A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234707 | |||||||
| chr21:41234715 | G | A | 6 | a0001c0001t0008g0078 a0001c0001t0008g0087 a0001c0001t0012g0153 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.402-2798G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234715 | |||||||
| chr21:41234748 | G | C | 5 | a0001c0001t0005g0006 a0001c0001t0005g0148 a0001c0001t0009g0227 others(2): Show |
5 | HG02258.hp1 HG02280.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.402-2765G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234748 | |||||||
| chr21:41234775 | A | G | 5 | a0001c0001t0005g0006 a0001c0001t0005g0148 a0001c0001t0009g0227 others(2): Show |
5 | HG02258.hp1 HG02280.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.402-2738A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234775 | |||||||
| chr21:41234784 | A | G | 3 | a0001c0001t0007g0199 a0001c0001t0029g0146 a0001c0006t0052g0261 |
3 | HG01106.hp2 HG02886.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.402-2729A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234784 | |||||||
| chr21:41234830 | T | C | 30 | a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0006g0188 others(27): Show |
31 | HG00280.hp1 HG00738.hp1 HG00741.hp2 others(28): Show |
intron_variant | MODIFIER | c.402-2683T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234830 | |||||||
| chr21:41234839 | G | A | 3 | a0001c0001t0007g0199 a0001c0001t0029g0146 a0001c0006t0052g0261 |
3 | HG01106.hp2 HG02886.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.402-2674G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234839 | |||||||
| chr21:41234915 | C | T | 25 | a0001c0001t0001g0121 a0001c0001t0002g0036 a0001c0001t0002g0066 others(22): Show |
25 | HG00140.hp1 HG00408.hp2 HG01069.hp2 others(22): Show |
intron_variant | MODIFIER | c.402-2598C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234915 | |||||||
| chr21:41234960 | G | A | 1 | a0001c0002t0001g0056 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.402-2553G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41234960 | |||||||
| chr21:41235135 | C | T | 1 | a0001c0001t0004g0173 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.402-2378C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235135 | |||||||
| chr21:41235245 | T | G | 1 | a0001c0002t0059g0265 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.402-2268T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235245 | |||||||
| chr21:41235283 | A | G | 5 | a0001c0001t0003g0198 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.402-2230A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235283 | |||||||
| chr21:41235300 | T | C | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.402-2213T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235300 | |||||||
| chr21:41235379 | G | A | 24 | a0001c0001t0001g0121 a0001c0001t0002g0036 a0001c0001t0002g0066 others(21): Show |
24 | HG00140.hp1 HG00408.hp2 HG01069.hp2 others(21): Show |
intron_variant | MODIFIER | c.402-2134G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235379 | |||||||
| chr21:41235380 | T | C | 30 | a0001c0001t0005g0141 a0001c0001t0007g0003 a0001c0001t0007g0051 others(27): Show |
30 | HG01070.hp2 HG01071.hp2 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.402-2133T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235380 | |||||||
| chr21:41235384 | C | T | 1 | a0001c0001t0003g0063 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.402-2129C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235384 | |||||||
| chr21:41235476 | G | A | 1 | a0001c0001t0003g0063 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.402-2037G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235476 | |||||||
| chr21:41235671 | G | T | 1 | a0001c0002t0023g0193 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.402-1842G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235671 | |||||||
| chr21:41235742 | A | T | 4 | a0001c0001t0005g0245 a0001c0001t0008g0253 a0001c0001t0061g0104 others(1): Show |
4 | HG02622.hp1 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.402-1771A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235742 | |||||||
| chr21:41235854 | A | AAATG | 64 | a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0005g0141 others(61): Show |
65 | HG00280.hp1 HG00738.hp1 HG00741.hp2 others(62): Show |
intron_variant | MODIFIER | c.402-1636_402-1633d others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41235854 | ||||||
| chr21:41235854 | A | AAATGAAT others(5): Show |
5 | a0001c0001t0003g0198 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.402-1644_402-1633d others(14): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | 41235854 | ||||||
| chr21:41235965 | T | G | 5 | a0001c0001t0005g0245 a0001c0001t0008g0253 a0001c0001t0028g0081 others(2): Show |
5 | HG02622.hp1 HG03579.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.402-1548T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235965 | |||||||
| chr21:41235971 | G | A | 1 | a0001c0001t0006g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.402-1542G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41235971 | |||||||
| chr21:41236018 | T | C | 1 | a0001c0001t0004g0019 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.402-1495T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236018 | |||||||
| chr21:41236077 | A | G | 5 | a0001c0001t0003g0198 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.402-1436A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236077 | |||||||
| chr21:41236157 | A | G | 1 | a0001c0002t0001g0194 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.402-1356A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236157 | |||||||
| chr21:41236304 | A | G | 97 | a0001c0001t0001g0121 a0001c0001t0002g0002 a0001c0001t0002g0036 others(94): Show |
98 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.402-1209A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236304 | |||||||
| chr21:41236356 | C | T | 7 | a0001c0001t0005g0141 a0001c0001t0008g0078 a0001c0001t0008g0087 others(4): Show |
7 | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.402-1157C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236356 | |||||||
| chr21:41236483 | G | A | 1 | a0001c0001t0003g0084 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.402-1030G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236483 | |||||||
| chr21:41236498 | C | T | 1 | a0001c0002t0001g0125 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.402-1015C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236498 | |||||||
| chr21:41236632 | G | C | 4 | a0001c0001t0005g0245 a0001c0001t0008g0253 a0001c0001t0061g0104 others(1): Show |
4 | HG02622.hp1 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.402-881G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236632 | |||||||
| chr21:41236745 | C | T | 2 | a0001c0001t0005g0009 a0001c0001t0054g0191 |
2 | HG02965.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.402-768C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236745 | |||||||
| chr21:41236810 | G | A | 1 | a0001c0002t0001g0099 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.402-703G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236810 | |||||||
| chr21:41236925 | T | G | 3 | a0001c0001t0003g0198 a0001c0001t0027g0192 a0001c0002t0059g0265 |
3 | HG02258.hp2 HG02615.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.402-588T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236925 | |||||||
| chr21:41236927 | C | A | 84 | a0001c0001t0001g0121 a0001c0001t0002g0002 a0001c0001t0002g0036 others(81): Show |
85 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(82): Show |
intron_variant | MODIFIER | c.402-586C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236927 | |||||||
| chr21:41236943 | C | A | 28 | a0001c0001t0003g0198 a0001c0001t0004g0026 a0001c0001t0004g0073 others(25): Show |
28 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(25): Show |
intron_variant | MODIFIER | c.402-570C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236943 | |||||||
| chr21:41236949 | C | G | 4 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0030g0207 others(1): Show |
4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.402-564C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41236949 | |||||||
| chr21:41237010 | G | A | 20 | a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(17): Show |
20 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(17): Show |
intron_variant | MODIFIER | c.402-503G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237010 | |||||||
| chr21:41237135 | A | G | 20 | a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(17): Show |
20 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(17): Show |
intron_variant | MODIFIER | c.402-378A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237135 | |||||||
| chr21:41237185 | C | T | 1 | a0001c0001t0014g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.402-328C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237185 | |||||||
| chr21:41237243 | C | T | 1 | a0001c0001t0021g0028 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.402-270C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237243 | |||||||
| chr21:41237248 | C | T | 1 | a0001c0002t0022g0164 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.402-265C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237248 | |||||||
| chr21:41237378 | G | A | 1 | a0001c0001t0014g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.402-135G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 2/8 | chr21 | 41237378 | |||||||
| chr21:41237846 | T | C | 1 | a0001c0001t0005g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.618+117T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237846 | |||||||
| chr21:41237863 | C | G | 1 | a0001c0001t0033g0038 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.618+134C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237863 | |||||||
| chr21:41237865 | T | G | 4 | a0001c0001t0004g0019 a0001c0001t0004g0130 a0001c0001t0004g0163 others(1): Show |
4 | HG01074.hp2 HG01106.hp1 HG01175.hp1 others(1): Show |
intron_variant | MODIFIER | c.618+136T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237865 | |||||||
| chr21:41237926 | C | T | 1 | a0001c0001t0014g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.618+197C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237926 | |||||||
| chr21:41237942 | G | A | 141 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0263 others(138): Show |
144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.618+213G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237942 | |||||||
| chr21:41237966 | A | G | 23 | a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0006g0188 others(20): Show |
24 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.618+237A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41237966 | |||||||
| chr21:41238081 | C | T | 2 | a0001c0002t0001g0046 a0001c0002t0055g0185 |
2 | HG00642.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.618+352C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238081 | |||||||
| chr21:41238147 | G | C | 1 | a0001c0002t0001g0034 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.618+418G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238147 | |||||||
| chr21:41238291 | C | T | 3 | a0001c0001t0006g0001 a0001c0001t0006g0058 a0001c0001t0006g0101 |
5 | HG01192.hp2 HG03491.hp2 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.618+562C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238291 | |||||||
| chr21:41238337 | A | G | 15 | a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(12): Show |
15 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.618+608A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238337 | |||||||
| chr21:41238386 | T | C | 15 | a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(12): Show |
15 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.618+657T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238386 | |||||||
| chr21:41238781 | T | C | 1 | a0001c0002t0001g0102 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.618+1052T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238781 | |||||||
| chr21:41238809 | G | C | 1 | a0001c0001t0006g0001 | 3 | HG03491.hp2 HG03492.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.618+1080G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238809 | |||||||
| chr21:41238815 | A | G | 1 | a0001c0001t0039g0005 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.618+1086A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238815 | |||||||
| chr21:41238816 | G | A | 1 | a0001c0001t0002g0002 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.618+1087G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238816 | |||||||
| chr21:41238854 | G | C | 2 | a0001c0002t0001g0049 a0001c0002t0001g0119 |
2 | HG03654.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.618+1125G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238854 | |||||||
| chr21:41238867 | T | A | 1 | a0001c0001t0043g0225 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.618+1138T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238867 | |||||||
| chr21:41238871 | C | T | 1 | a0001c0002t0001g0136 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.618+1142C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238871 | |||||||
| chr21:41238877 | G | A | 1 | a0001c0002t0001g0136 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.618+1148G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238877 | |||||||
| chr21:41238917 | A | G | 1 | a0001c0001t0033g0038 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.618+1188A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41238917 | |||||||
| chr21:41238954 | TA | T | 206 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(203): Show |
208 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(205): Show |
intron_variant | MODIFIER | c.618+1250delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr21 | 41238954 | ||||||
| chr21:41238954 | TAA | T | 21 | a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0243 others(18): Show |
21 | HG01070.hp2 HG01167.hp1 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.618+1249_618+1250d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr21 | 41238954 | ||||||
| chr21:41239031 | C | G | 1 | a0001c0001t0008g0264 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.618+1302C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239031 | |||||||
| chr21:41239034 | G | T | 1 | a0001c0002t0001g0125 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.618+1305G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239034 | |||||||
| chr21:41239050 | C | T | 1 | a0001c0001t0014g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.618+1321C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239050 | |||||||
| chr21:41239051 | G | A | 5 | a0001c0001t0003g0198 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.618+1322G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239051 | |||||||
| chr21:41239099 | C | T | 1 | a0001c0001t0014g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.618+1370C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239099 | |||||||
| chr21:41239175 | A | C | 3 | a0001c0001t0005g0023 a0001c0001t0005g0241 a0001c0001t0008g0255 |
3 | HG02055.hp2 HG02145.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.618+1446A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239175 | |||||||
| chr21:41239414 | A | G | 2 | a0001c0002t0025g0145 a0001c0004t0025g0083 |
2 | NA18980.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.618+1685A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239414 | |||||||
| chr21:41239593 | G | T | 38 | a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(35): Show |
38 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.618+1864G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239593 | |||||||
| chr21:41239667 | G | A | 5 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(2): Show |
5 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.618+1938G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239667 | |||||||
| chr21:41239712 | A | G | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.618+1983A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239712 | |||||||
| chr21:41239782 | A | G | 1 | a0001c0002t0001g0180 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.619-2037A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239782 | |||||||
| chr21:41239820 | C | T | 1 | a0001c0002t0060g0144 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.619-1999C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239820 | |||||||
| chr21:41239897 | A | G | 15 | a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(12): Show |
15 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.619-1922A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41239897 | |||||||
| chr21:41240068 | T | C | 10 | a0001c0001t0005g0141 a0001c0001t0007g0199 a0001c0001t0008g0078 others(7): Show |
10 | HG01106.hp2 HG01167.hp2 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.619-1751T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240068 | |||||||
| chr21:41240227 | G | A | 21 | a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0006g0188 others(18): Show |
22 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.619-1592G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240227 | |||||||
| chr21:41240498 | C | A | 5 | a0001c0001t0003g0198 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.619-1321C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240498 | |||||||
| chr21:41240499 | G | A | 36 | a0001c0001t0001g0121 a0001c0001t0002g0008 a0001c0001t0002g0027 others(33): Show |
36 | HG00140.hp1 HG00408.hp2 HG01069.hp2 others(33): Show |
intron_variant | MODIFIER | c.619-1320G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240499 | |||||||
| chr21:41240560 | C | A | 1 | a0001c0001t0007g0076 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.619-1259C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240560 | |||||||
| chr21:41240624 | G | T | 5 | a0001c0001t0003g0198 a0001c0001t0005g0031 a0001c0001t0005g0070 others(2): Show |
5 | HG02258.hp2 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.619-1195G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240624 | |||||||
| chr21:41240706 | C | T | 1 | a0001c0001t0017g0147 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.619-1113C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240706 | |||||||
| chr21:41240909 | T | A | 1 | a0001c0002t0001g0233 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.619-910T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240909 | |||||||
| chr21:41240953 | G | A | 48 | a0001c0001t0001g0121 a0001c0001t0002g0008 a0001c0001t0002g0027 others(45): Show |
48 | HG00140.hp1 HG00408.hp2 HG00741.hp2 others(45): Show |
intron_variant | MODIFIER | c.619-866G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41240953 | |||||||
| chr21:41241079 | C | T | 1 | a0001c0001t0014g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.619-740C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241079 | |||||||
| chr21:41241099 | C | T | 2 | a0001c0001t0029g0146 a0001c0003t0005g0052 |
2 | HG01106.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.619-720C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241099 | |||||||
| chr21:41241211 | G | A | 4 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0030g0207 others(1): Show |
4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.619-608G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241211 | |||||||
| chr21:41241252 | A | G | 4 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0030g0207 others(1): Show |
4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.619-567A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241252 | |||||||
| chr21:41241328 | C | G | 11 | a0001c0001t0002g0002 a0001c0001t0006g0188 a0001c0001t0009g0120 others(8): Show |
12 | HG01099.hp1 HG01109.hp2 HG01361.hp1 others(9): Show |
intron_variant | MODIFIER | c.619-491C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241328 | |||||||
| chr21:41241417 | G | A | 138 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(135): Show |
140 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.619-402G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241417 | |||||||
| chr21:41241618 | A | G | 12 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0006g0001 others(9): Show |
14 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.619-201A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241618 | |||||||
| chr21:41241741 | G | A | 1 | a0001c0001t0002g0182 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.619-78G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3/8 | chr21 | 41241741 | |||||||
| chr21:41241998 | GT | G | 35 | a0001c0001t0001g0121 a0001c0001t0002g0008 a0001c0001t0002g0027 others(32): Show |
35 | HG00140.hp1 HG00408.hp2 HG01069.hp2 others(32): Show |
intron_variant | MODIFIER | c.747+58delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr21 | 41241998 | ||||||
| chr21:41242146 | G | A | 5 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(2): Show |
5 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.747+199G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242146 | |||||||
| chr21:41242219 | T | C | 1 | a0001c0002t0001g0102 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.747+272T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242219 | |||||||
| chr21:41242275 | G | A | 1 | a0001c0002t0001g0037 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.747+328G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242275 | |||||||
| chr21:41242339 | T | TTC | 114 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(111): Show |
114 | HG00140.hp2 HG00408.hp1 HG00642.hp1 others(111): Show |
intron_variant | MODIFIER | c.747+409_747+410dup others(2): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr21 | 41242339 | ||||||
| chr21:41242413 | C | G | 4 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0030g0207 others(1): Show |
4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.747+466C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242413 | |||||||
| chr21:41242549 | A | G | 1 | a0001c0002t0001g0047 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.747+602A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242549 | |||||||
| chr21:41242793 | G | A | 4 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0030g0207 others(1): Show |
4 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.748-583G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242793 | |||||||
| chr21:41242870 | G | A | 1 | a0001c0006t0052g0261 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.748-506G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242870 | |||||||
| chr21:41242954 | G | A | 1 | a0001c0001t0005g0006 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.748-422G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242954 | |||||||
| chr21:41242978 | G | T | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.748-398G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41242978 | |||||||
| chr21:41243062 | C | T | 1 | a0001c0001t0006g0058 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.748-314C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243062 | |||||||
| chr21:41243074 | C | T | 1 | a0001c0001t0007g0199 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.748-302C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243074 | |||||||
| chr21:41243127 | C | T | 9 | a0001c0001t0003g0198 a0001c0001t0005g0245 a0001c0001t0008g0253 others(6): Show |
9 | HG02258.hp2 HG02615.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.748-249C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243127 | |||||||
| chr21:41243133 | C | T | 1 | a0001c0001t0047g0161 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.748-243C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243133 | |||||||
| chr21:41243366 | C | T | 127 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0263 others(124): Show |
129 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(126): Show |
intron_variant | MODIFIER | c.748-10C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 4/8 | chr21 | 41243366 | |||||||
| chr21:41243580 | C | G | 1 | a0001c0003t0005g0052 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.882+70C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243580 | |||||||
| chr21:41243667 | G | A | 1 | a0001c0002t0001g0057 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.882+157G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243667 | |||||||
| chr21:41243727 | T | A | 6 | a0001c0001t0003g0198 a0001c0001t0005g0245 a0001c0001t0008g0253 others(3): Show |
6 | HG02258.hp2 HG02615.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.882+217T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243727 | |||||||
| chr21:41243732 | A | G | 5 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(2): Show |
5 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.882+222A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243732 | |||||||
| chr21:41243879 | G | A | 3 | a0001c0001t0014g0004 a0001c0001t0020g0262 a0001c0001t0028g0081 |
3 | HG02145.hp2 HG06807.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.882+369G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243879 | |||||||
| chr21:41243900 | C | T | 1 | a0001c0001t0002g0234 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.882+390C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243900 | |||||||
| chr21:41243915 | C | CT | 124 | a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0263 others(121): Show |
126 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(123): Show |
intron_variant | MODIFIER | c.882+409dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41243915 | ||||||
| chr21:41243932 | C | T | 1 | a0001c0001t0014g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.882+422C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243932 | |||||||
| chr21:41243944 | C | A | 1 | a0001c0002t0001g0047 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.882+434C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243944 | |||||||
| chr21:41243973 | A | C | 1 | a0001c0001t0044g0021 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.882+463A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41243973 | |||||||
| chr21:41244078 | C | T | 180 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(177): Show |
183 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(180): Show |
intron_variant | MODIFIER | c.882+568C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244078 | |||||||
| chr21:41244127 | G | C | 2 | a0001c0001t0006g0162 a0001c0001t0029g0146 |
2 | HG01106.hp2 HG01256.hp2 |
intron_variant | MODIFIER | c.882+617G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244127 | |||||||
| chr21:41244129 | G | T | 1 | a0001c0002t0001g0175 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.882+619G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244129 | |||||||
| chr21:41244272 | G | A | 2 | a0001c0001t0005g0009 a0001c0001t0054g0191 |
2 | HG02965.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.882+762G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244272 | |||||||
| chr21:41244274 | G | A | 26 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0005g0006 others(23): Show |
28 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
intron_variant | MODIFIER | c.882+764G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244274 | |||||||
| chr21:41244456 | A | G | 7 | a0001c0001t0005g0141 a0001c0001t0006g0162 a0001c0001t0008g0078 others(4): Show |
7 | HG01106.hp2 HG01256.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.882+946A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244456 | |||||||
| chr21:41244457 | G | GT | 7 | a0001c0001t0005g0141 a0001c0001t0006g0162 a0001c0001t0008g0078 others(4): Show |
7 | HG01106.hp2 HG01256.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.882+947_882+948ins others(1): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244457 | |||||||
| chr21:41244460 | T | G | 7 | a0001c0001t0005g0141 a0001c0001t0006g0162 a0001c0001t0008g0078 others(4): Show |
7 | HG01106.hp2 HG01256.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.882+950T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244460 | |||||||
| chr21:41244463 | G | C | 7 | a0001c0001t0005g0141 a0001c0001t0006g0162 a0001c0001t0008g0078 others(4): Show |
7 | HG01106.hp2 HG01256.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.882+953G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244463 | |||||||
| chr21:41244527 | TAATGTCA others(44): Show |
T | 70 | a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(67): Show |
70 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(67): Show |
intron_variant | MODIFIER | c.882+1039_882+1089d others(53): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244527 | ||||||
| chr21:41244549 | GACTGGCC others(44): Show |
G | 57 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(54): Show |
58 | HG00408.hp1 HG00738.hp2 HG01074.hp2 others(55): Show |
intron_variant | MODIFIER | c.882+1042_882+1092d others(53): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244549 | ||||||
| chr21:41244552 | TGGCCATT others(44): Show |
T | 5 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(2): Show |
5 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.882+1065_882+1115d others(53): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244552 | ||||||
| chr21:41244647 | A | C | 18 | a0001c0001t0005g0031 a0001c0001t0005g0070 a0001c0001t0005g0148 others(15): Show |
18 | HG00741.hp2 HG01099.hp2 HG01106.hp2 others(15): Show |
intron_variant | MODIFIER | c.882+1137A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244647 | |||||||
| chr21:41244804 | T | C | 95 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(92): Show |
98 | HG00280.hp2 HG00408.hp1 HG00738.hp2 others(95): Show |
intron_variant | MODIFIER | c.883-1158T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244804 | |||||||
| chr21:41244807 | A | G | 1 | a0001c0001t0033g0038 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.883-1155A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244807 | |||||||
| chr21:41244830 | G | A | 61 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(58): Show |
62 | HG00408.hp1 HG00738.hp2 HG00741.hp2 others(59): Show |
intron_variant | MODIFIER | c.883-1132G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244830 | |||||||
| chr21:41244863 | C | CTG | 8 | a0001c0001t0003g0198 a0001c0001t0007g0242 a0001c0001t0009g0227 others(5): Show |
8 | HG02258.hp2 HG02723.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.883-1082_883-1081d others(4): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244863 | ||||||
| chr21:41244863 | C | CTGTG | 22 | a0001c0001t0004g0026 a0001c0001t0004g0039 a0001c0001t0004g0073 others(19): Show |
22 | HG00408.hp1 HG01109.hp1 HG01167.hp2 others(19): Show |
intron_variant | MODIFIER | c.883-1084_883-1081d others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244863 | ||||||
| chr21:41244863 | C | CTGTGTG | 54 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(51): Show |
55 | HG00738.hp2 HG01070.hp1 HG01074.hp2 others(52): Show |
intron_variant | MODIFIER | c.883-1086_883-1081d others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr21 | 41244863 | ||||||
| chr21:41244882 | A | T | 1 | a0001c0002t0001g0254 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.883-1080A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244882 | |||||||
| chr21:41244893 | A | G | 1 | a0001c0002t0001g0254 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.883-1069A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244893 | |||||||
| chr21:41244895 | G | A | 1 | a0001c0002t0001g0254 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.883-1067G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41244895 | |||||||
| chr21:41245110 | G | T | 220 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(217): Show |
223 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(220): Show |
intron_variant | MODIFIER | c.883-852G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245110 | |||||||
| chr21:41245438 | G | A | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.883-524G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245438 | |||||||
| chr21:41245535 | G | A | 1 | a0001c0002t0013g0218 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.883-427G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245535 | |||||||
| chr21:41245730 | G | A | 101 | a0001c0001t0002g0002 a0001c0001t0004g0216 a0001c0001t0005g0160 others(98): Show |
102 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(99): Show |
intron_variant | MODIFIER | c.883-232G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245730 | |||||||
| chr21:41245829 | A | G | 13 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0006g0001 others(10): Show |
15 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(12): Show |
intron_variant | MODIFIER | c.883-133A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245829 | |||||||
| chr21:41245894 | C | T | 1 | a0001c0001t0009g0227 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.883-68C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245894 | |||||||
| chr21:41245904 | G | T | 3 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 |
3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.883-58G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 5/8 | chr21 | 41245904 | |||||||
| chr21:41246211 | T | C | 7 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(4): Show |
7 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.984+148T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246211 | |||||||
| chr21:41246305 | G | A | 223 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(220): Show |
226 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(223): Show |
intron_variant | MODIFIER | c.984+242G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246305 | |||||||
| chr21:41246451 | G | A | 61 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(58): Show |
63 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(60): Show |
intron_variant | MODIFIER | c.984+388G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246451 | |||||||
| chr21:41246476 | G | A | 223 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(220): Show |
226 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(223): Show |
intron_variant | MODIFIER | c.984+413G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246476 | |||||||
| chr21:41246524 | C | A | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.984+461C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246524 | |||||||
| chr21:41246529 | T | A | 5 | a0001c0001t0005g0245 a0001c0001t0007g0199 a0001c0001t0038g0103 others(2): Show |
5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.984+466T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246529 | |||||||
| chr21:41246701 | G | A | 2 | a0001c0001t0005g0023 a0001c0001t0005g0241 |
2 | HG02055.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.984+638G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246701 | |||||||
| chr21:41246737 | C | T | 1 | a0001c0001t0036g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.984+674C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246737 | |||||||
| chr21:41246771 | G | C | 1 | a0001c0002t0001g0229 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.984+708G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246771 | |||||||
| chr21:41246808 | A | G | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.984+745A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246808 | |||||||
| chr21:41246826 | G | A | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.984+763G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41246826 | |||||||
| chr21:41247086 | G | A | 6 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(3): Show |
6 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.984+1023G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247086 | |||||||
| chr21:41247241 | C | T | 1 | a0001c0002t0001g0175 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.984+1178C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247241 | |||||||
| chr21:41247327 | A | G | 91 | a0001c0001t0004g0216 a0001c0001t0009g0043 a0001c0001t0009g0048 others(88): Show |
91 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(88): Show |
intron_variant | MODIFIER | c.984+1264A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247327 | |||||||
| chr21:41247347 | A | G | 28 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0003g0198 others(25): Show |
30 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(27): Show |
intron_variant | MODIFIER | c.984+1284A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247347 | |||||||
| chr21:41247532 | A | G | 1 | a0001c0002t0001g0024 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.984+1469A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247532 | |||||||
| chr21:41247569 | G | A | 1 | a0001c0001t0002g0234 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.984+1506G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247569 | |||||||
| chr21:41247617 | C | A | 155 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(152): Show |
158 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(155): Show |
intron_variant | MODIFIER | c.984+1554C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247617 | |||||||
| chr21:41247678 | C | T | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.984+1615C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247678 | |||||||
| chr21:41247693 | A | G | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.984+1630A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247693 | |||||||
| chr21:41247727 | A | G | 5 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(2): Show |
5 | HG01167.hp2 HG01169.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.984+1664A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247727 | |||||||
| chr21:41247730 | G | A | 183 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(180): Show |
185 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(182): Show |
intron_variant | MODIFIER | c.984+1667G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247730 | |||||||
| chr21:41247822 | T | C | 166 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0003g0198 others(163): Show |
168 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(165): Show |
intron_variant | MODIFIER | c.984+1759T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247822 | |||||||
| chr21:41247843 | G | A | 17 | a0001c0001t0006g0162 a0001c0001t0006g0188 a0001c0001t0007g0003 others(14): Show |
17 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(14): Show |
intron_variant | MODIFIER | c.984+1780G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247843 | |||||||
| chr21:41247923 | G | A | 2 | a0001c0001t0006g0162 a0001c0001t0006g0188 |
2 | HG01256.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.984+1860G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247923 | |||||||
| chr21:41247949 | T | C | 1 | a0001c0002t0001g0034 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.984+1886T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41247949 | |||||||
| chr21:41248142 | G | A | 1 | a0001c0002t0001g0044 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.984+2079G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248142 | |||||||
| chr21:41248192 | C | A | 67 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(64): Show |
69 | HG00280.hp2 HG00738.hp2 HG00741.hp2 others(66): Show |
intron_variant | MODIFIER | c.984+2129C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248192 | |||||||
| chr21:41248222 | G | A | 67 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(64): Show |
69 | HG00280.hp2 HG00738.hp2 HG00741.hp2 others(66): Show |
intron_variant | MODIFIER | c.984+2159G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248222 | |||||||
| chr21:41248233 | G | A | 67 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(64): Show |
69 | HG00280.hp2 HG00738.hp2 HG00741.hp2 others(66): Show |
intron_variant | MODIFIER | c.984+2170G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248233 | |||||||
| chr21:41248385 | G | A | 7 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(4): Show |
7 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.984+2322G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248385 | |||||||
| chr21:41248426 | G | A | 3 | a0001c0001t0004g0019 a0001c0001t0004g0130 a0001c0001t0004g0163 |
3 | HG01074.hp2 HG01175.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.985-2326G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248426 | |||||||
| chr21:41248440 | T | C | 1 | a0001c0001t0038g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.985-2312T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248440 | |||||||
| chr21:41248459 | C | G | 6 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.985-2293C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248459 | |||||||
| chr21:41248474 | C | T | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.985-2278C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248474 | |||||||
| chr21:41248558 | T | C | 8 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(5): Show |
8 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.985-2194T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248558 | |||||||
| chr21:41248593 | T | C | 175 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(172): Show |
177 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(174): Show |
intron_variant | MODIFIER | c.985-2159T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248593 | |||||||
| chr21:41248705 | C | G | 8 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(5): Show |
8 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.985-2047C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248705 | |||||||
| chr21:41248750 | G | A | 11 | a0001c0001t0004g0026 a0001c0001t0004g0073 a0001c0001t0004g0075 others(8): Show |
11 | HG01109.hp1 HG01257.hp1 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.985-2002G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248750 | |||||||
| chr21:41248753 | G | T | 89 | a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0030 others(86): Show |
89 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(86): Show |
intron_variant | MODIFIER | c.985-1999G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248753 | |||||||
| chr21:41248787 | C | T | 88 | a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0030 others(85): Show |
88 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(85): Show |
intron_variant | MODIFIER | c.985-1965C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248787 | |||||||
| chr21:41248866 | C | A | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.985-1886C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248866 | |||||||
| chr21:41248868 | G | A | 6 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(3): Show |
6 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.985-1884G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248868 | |||||||
| chr21:41248962 | T | C | 8 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(5): Show |
8 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.985-1790T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248962 | |||||||
| chr21:41248990 | C | A | 1 | a0001c0001t0033g0038 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.985-1762C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41248990 | |||||||
| chr21:41249029 | G | A | 1 | a0001c0001t0009g0227 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.985-1723G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249029 | |||||||
| chr21:41249055 | C | G | 5 | a0001c0001t0005g0245 a0001c0001t0007g0199 a0001c0001t0038g0103 others(2): Show |
5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.985-1697C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249055 | |||||||
| chr21:41249148 | TTAGTGAG others(36): Show |
T | 24 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(21): Show |
24 | HG00408.hp1 HG01074.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.985-1572_985-1530d others(45): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249148 | ||||||
| chr21:41249180 | T | G | 6 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(3): Show |
6 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.985-1572T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249180 | |||||||
| chr21:41249241 | GC | G | 24 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(21): Show |
24 | HG00408.hp1 HG01074.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.985-1506delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249241 | ||||||
| chr21:41249242 | C | CCCCCACA others(36): Show |
4 | a0001c0002t0001g0049 a0001c0002t0023g0095 a0001c0002t0023g0193 others(1): Show |
4 | HG02683.hp1 HG02738.hp2 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.985-1474_985-1432d others(45): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249242 | ||||||
| chr21:41249242 | C | CCCCCACA others(79): Show |
164 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(161): Show |
166 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(163): Show |
intron_variant | MODIFIER | c.985-1432_985-1431i others(88): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249242 | ||||||
| chr21:41249250 | T | TGTACACT others(79): Show |
15 | a0001c0001t0007g0003 a0001c0001t0007g0051 a0001c0001t0007g0076 others(12): Show |
15 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.985-1432_985-1431i others(88): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249250 | ||||||
| chr21:41249305 | CTCAGGGG others(79): Show |
C | 1 | a0001c0001t0011g0072 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.985-1431_985-1346d others(88): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | 41249305 | ||||||
| chr21:41249321 | C | T | 1 | a0001c0002t0001g0049 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.985-1431C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249321 | |||||||
| chr21:41249362 | A | G | 12 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(9): Show |
12 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.985-1390A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249362 | |||||||
| chr21:41249391 | T | C | 12 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(9): Show |
12 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.985-1361T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249391 | |||||||
| chr21:41249405 | G | A | 1 | a0001c0002t0001g0049 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.985-1347G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249405 | |||||||
| chr21:41249407 | T | C | 1 | a0001c0002t0001g0049 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.985-1345T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249407 | |||||||
| chr21:41249542 | A | G | 12 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(9): Show |
12 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.985-1210A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249542 | |||||||
| chr21:41249578 | G | A | 1 | a0001c0001t0015g0091 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.985-1174G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249578 | |||||||
| chr21:41249621 | C | T | 20 | a0001c0001t0005g0160 a0001c0001t0005g0167 a0001c0001t0005g0238 others(17): Show |
20 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(17): Show |
intron_variant | MODIFIER | c.985-1131C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249621 | |||||||
| chr21:41249852 | G | C | 6 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.985-900G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249852 | |||||||
| chr21:41249915 | G | A | 6 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.985-837G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41249915 | |||||||
| chr21:41250154 | T | A | 15 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(12): Show |
15 | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.985-598T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250154 | |||||||
| chr21:41250286 | A | G | 5 | a0001c0001t0005g0245 a0001c0001t0007g0199 a0001c0001t0038g0103 others(2): Show |
5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.985-466A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250286 | |||||||
| chr21:41250295 | C | T | 5 | a0001c0001t0005g0245 a0001c0001t0007g0199 a0001c0001t0038g0103 others(2): Show |
5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.985-457C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250295 | |||||||
| chr21:41250540 | A | C | 2 | a0001c0001t0006g0162 a0001c0001t0006g0188 |
2 | HG01256.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.985-212A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250540 | |||||||
| chr21:41250552 | A | G | 253 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(250): Show |
256 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(253): Show |
intron_variant | MODIFIER | c.985-200A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250552 | |||||||
| chr21:41250563 | C | A | 6 | a0001c0001t0011g0072 a0001c0001t0012g0138 a0001c0001t0012g0143 others(3): Show |
6 | HG00741.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.985-189C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250563 | |||||||
| chr21:41250730 | G | C | 214 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(211): Show |
216 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(213): Show |
intron_variant | MODIFIER | c.985-22G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | chr21 | 41250730 | |||||||
| chr21:41250977 | G | A | 1 | a0001c0001t0011g0089 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1134+76G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41250977 | |||||||
| chr21:41251383 | C | T | 16 | a0001c0001t0007g0003 a0001c0001t0007g0051 a0001c0001t0007g0076 others(13): Show |
16 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.1134+482C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251383 | |||||||
| chr21:41251528 | C | T | 1 | a0001c0001t0009g0227 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1134+627C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251528 | |||||||
| chr21:41251766 | AC | A | 21 | a0001c0001t0005g0160 a0001c0001t0005g0167 a0001c0001t0005g0238 others(18): Show |
21 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(18): Show |
intron_variant | MODIFIER | c.1134+866delC | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251766 | |||||||
| chr21:41251778 | C | T | 4 | a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0136 others(1): Show |
4 | HG00733.hp1 HG00741.hp1 HG01192.hp1 others(1): Show |
intron_variant | MODIFIER | c.1134+877C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251778 | |||||||
| chr21:41251817 | C | A | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+916C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41251817 | |||||||
| chr21:41252009 | G | A | 1 | a0001c0001t0046g0267 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1134+1108G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252009 | |||||||
| chr21:41252197 | G | A | 25 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0005g0006 others(22): Show |
27 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
intron_variant | MODIFIER | c.1134+1296G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252197 | |||||||
| chr21:41252287 | G | T | 22 | a0001c0001t0005g0160 a0001c0001t0005g0167 a0001c0001t0005g0238 others(19): Show |
22 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(19): Show |
intron_variant | MODIFIER | c.1134+1386G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252287 | |||||||
| chr21:41252295 | C | T | 1 | a0001c0002t0001g0246 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1134+1394C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252295 | |||||||
| chr21:41252296 | C | A | 3 | a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0136 |
3 | HG00733.hp1 HG00741.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.1134+1395C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252296 | |||||||
| chr21:41252406 | A | G | 1 | a0001c0001t0005g0006 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1134+1505A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252406 | |||||||
| chr21:41252434 | C | T | 2 | a0001c0001t0003g0198 a0001c0001t0027g0192 |
2 | HG02258.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1134+1533C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252434 | |||||||
| chr21:41252543 | C | T | 32 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(29): Show |
32 | HG00408.hp1 HG00741.hp2 HG01074.hp2 others(29): Show |
intron_variant | MODIFIER | c.1134+1642C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252543 | |||||||
| chr21:41252688 | G | A | 1 | a0001c0001t0015g0068 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.1134+1787G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252688 | |||||||
| chr21:41252695 | G | T | 25 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0005g0006 others(22): Show |
27 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
intron_variant | MODIFIER | c.1134+1794G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252695 | |||||||
| chr21:41252907 | GCCGACA | G | 31 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0005g0006 others(28): Show |
33 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(30): Show |
intron_variant | MODIFIER | c.1134+2007_1134+201 others(10): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252907 | |||||||
| chr21:41252914 | G | A | 31 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0005g0006 others(28): Show |
33 | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(30): Show |
intron_variant | MODIFIER | c.1134+2013G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41252914 | |||||||
| chr21:41253118 | G | C | 1 | a0001c0001t0004g0142 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1134+2217G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253118 | |||||||
| chr21:41253163 | C | T | 1 | a0001c0001t0002g0002 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1134+2262C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253163 | |||||||
| chr21:41253164 | G | A | 1 | a0001c0001t0003g0128 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1134+2263G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253164 | |||||||
| chr21:41253224 | G | A | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+2323G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253224 | |||||||
| chr21:41253237 | C | T | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+2336C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253237 | |||||||
| chr21:41253284 | A | T | 5 | a0001c0001t0005g0245 a0001c0001t0007g0199 a0001c0001t0038g0103 others(2): Show |
5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.1134+2383A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253284 | |||||||
| chr21:41253343 | A | G | 208 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(205): Show |
210 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(207): Show |
intron_variant | MODIFIER | c.1134+2442A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253343 | |||||||
| chr21:41253350 | G | A | 22 | a0001c0001t0005g0160 a0001c0001t0005g0167 a0001c0001t0005g0238 others(19): Show |
22 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(19): Show |
intron_variant | MODIFIER | c.1134+2449G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253350 | |||||||
| chr21:41253393 | G | C | 2 | a0001c0001t0017g0147 a0001c0001t0017g0269 |
2 | HG02723.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.1134+2492G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253393 | |||||||
| chr21:41253418 | G | A | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+2517G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253418 | |||||||
| chr21:41253441 | C | CA | 79 | a0001c0001t0003g0198 a0001c0001t0004g0226 a0001c0001t0005g0009 others(76): Show |
79 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(76): Show |
intron_variant | MODIFIER | c.1134+2558dupA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41253441 | ||||||
| chr21:41253441 | C | CAA | 8 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(5): Show |
8 | HG01081.hp1 HG01106.hp2 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.1134+2557_1134+255 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41253441 | ||||||
| chr21:41253441 | CA | C | 33 | a0001c0001t0003g0222 a0001c0001t0004g0073 a0001c0001t0005g0160 others(30): Show |
33 | HG00280.hp1 HG00738.hp1 HG01070.hp2 others(30): Show |
intron_variant | MODIFIER | c.1134+2558delA | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41253441 | ||||||
| chr21:41253463 | C | T | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1134+2562C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253463 | |||||||
| chr21:41253464 | G | A | 21 | a0001c0001t0005g0160 a0001c0001t0005g0167 a0001c0001t0005g0238 others(18): Show |
21 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(18): Show |
intron_variant | MODIFIER | c.1134+2563G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253464 | |||||||
| chr21:41253498 | G | A | 3 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 |
3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1134+2597G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253498 | |||||||
| chr21:41253529 | G | T | 1 | a0001c0001t0005g0238 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1134+2628G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253529 | |||||||
| chr21:41253556 | G | A | 1 | a0001c0001t0028g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1134+2655G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253556 | |||||||
| chr21:41253617 | G | A | 21 | a0001c0001t0005g0160 a0001c0001t0005g0167 a0001c0001t0005g0238 others(18): Show |
21 | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(18): Show |
intron_variant | MODIFIER | c.1134+2716G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253617 | |||||||
| chr21:41253983 | G | A | 1 | a0001c0001t0003g0126 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1134+3082G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41253983 | |||||||
| chr21:41254109 | A | G | 5 | a0001c0001t0005g0245 a0001c0001t0007g0199 a0001c0001t0038g0103 others(2): Show |
5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.1135-3049A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254109 | |||||||
| chr21:41254187 | A | C | 5 | a0001c0001t0005g0245 a0001c0001t0007g0199 a0001c0001t0038g0103 others(2): Show |
5 | HG02886.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.1135-2971A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254187 | |||||||
| chr21:41254303 | C | T | 1 | a0001c0002t0057g0071 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1135-2855C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254303 | |||||||
| chr21:41254428 | G | T | 1 | a0001c0006t0052g0261 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1135-2730G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254428 | |||||||
| chr21:41254435 | C | A | 202 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(199): Show |
204 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(201): Show |
intron_variant | MODIFIER | c.1135-2723C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254435 | |||||||
| chr21:41254474 | T | C | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1135-2684T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254474 | |||||||
| chr21:41254533 | C | T | 2 | a0001c0001t0014g0197 a0001c0001t0014g0251 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1135-2625C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254533 | |||||||
| chr21:41254734 | T | G | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1135-2424T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254734 | |||||||
| chr21:41254779 | T | C | 208 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(205): Show |
210 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(207): Show |
intron_variant | MODIFIER | c.1135-2379T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254779 | |||||||
| chr21:41254813 | C | T | 1 | a0001c0001t0003g0096 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1135-2345C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254813 | |||||||
| chr21:41254865 | C | T | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1135-2293C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254865 | |||||||
| chr21:41254866 | G | T | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1135-2292G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254866 | |||||||
| chr21:41254868 | C | A | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1135-2290C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254868 | |||||||
| chr21:41254877 | T | C | 1 | a0001c0002t0001g0254 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1135-2281T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254877 | |||||||
| chr21:41254924 | C | T | 90 | a0001c0001t0061g0104 a0001c0002t0001g0024 a0001c0002t0001g0029 others(87): Show |
90 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(87): Show |
intron_variant | MODIFIER | c.1135-2234C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254924 | |||||||
| chr21:41254955 | A | G | 200 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(197): Show |
202 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(199): Show |
intron_variant | MODIFIER | c.1135-2203A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41254955 | |||||||
| chr21:41255293 | G | C | 74 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(71): Show |
76 | HG00280.hp2 HG00738.hp2 HG01069.hp1 others(73): Show |
intron_variant | MODIFIER | c.1135-1865G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41255293 | |||||||
| chr21:41255389 | G | A | 26 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(23): Show |
26 | HG00408.hp1 HG00741.hp2 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.1135-1769G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41255389 | |||||||
| chr21:41255633 | A | C | 1 | a0001c0001t0018g0025 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1135-1525A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41255633 | |||||||
| chr21:41255687 | A | G | 14 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(11): Show |
14 | HG01070.hp1 HG01106.hp2 HG01168.hp1 others(11): Show |
intron_variant | MODIFIER | c.1135-1471A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41255687 | |||||||
| chr21:41255736 | CT | C | 19 | a0001c0001t0007g0003 a0001c0001t0007g0051 a0001c0001t0007g0076 others(16): Show |
19 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(16): Show |
intron_variant | MODIFIER | c.1135-1413delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41255736 | ||||||
| chr21:41256042 | G | A | 92 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(89): Show |
94 | HG00280.hp2 HG00738.hp2 HG01069.hp1 others(91): Show |
intron_variant | MODIFIER | c.1135-1116G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256042 | |||||||
| chr21:41256084 | G | GT | 31 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(28): Show |
31 | HG00738.hp2 HG00741.hp2 HG01175.hp2 others(28): Show |
intron_variant | MODIFIER | c.1135-1065dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41256084 | ||||||
| chr21:41256084 | GT | G | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1135-1065delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr21 | 41256084 | ||||||
| chr21:41256198 | G | A | 1 | a0001c0001t0038g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1135-960G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256198 | |||||||
| chr21:41256285 | G | A | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1135-873G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256285 | |||||||
| chr21:41256392 | T | C | 1 | a0001c0001t0017g0269 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1135-766T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256392 | |||||||
| chr21:41256451 | T | C | 3 | a0001c0001t0006g0162 a0001c0001t0006g0188 a0001c0006t0052g0261 |
3 | HG01256.hp2 HG02622.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1135-707T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256451 | |||||||
| chr21:41256919 | T | C | 1 | a0001c0001t0008g0253 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1135-239T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41256919 | |||||||
| chr21:41257041 | G | T | 1 | a0001c0001t0009g0227 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1135-117G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41257041 | |||||||
| chr21:41257056 | G | A | 6 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(3): Show |
6 | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.1135-102G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41257056 | |||||||
| chr21:41257148 | C | T | 12 | a0001c0001t0005g0160 a0001c0001t0005g0167 a0001c0001t0005g0238 others(9): Show |
12 | HG01167.hp2 HG01169.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.1135-10C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | 41257148 | |||||||
| chr21:41257725 | C | T | 26 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0005g0006 others(23): Show |
28 | HG00280.hp2 HG01099.hp2 HG01192.hp2 others(25): Show |
intron_variant | MODIFIER | c.1303+399C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257725 | |||||||
| chr21:41257817 | G | T | 27 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(24): Show |
27 | HG00738.hp2 HG01175.hp2 HG01256.hp1 others(24): Show |
intron_variant | MODIFIER | c.1303+491G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257817 | |||||||
| chr21:41257967 | C | T | 1 | a0001c0006t0052g0261 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1303+641C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257967 | |||||||
| chr21:41257968 | A | G | 204 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(201): Show |
206 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(203): Show |
intron_variant | MODIFIER | c.1303+642A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257968 | |||||||
| chr21:41257992 | G | A | 1 | a0001c0002t0059g0265 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1303+666G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41257992 | |||||||
| chr21:41258065 | G | A | 1 | a0001c0001t0007g0268 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1303+739G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258065 | |||||||
| chr21:41258097 | A | G | 2 | a0001c0001t0004g0216 a0001c0001t0051g0133 |
2 | HG01934.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.1303+771A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258097 | |||||||
| chr21:41258166 | G | A | 184 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(181): Show |
186 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(183): Show |
intron_variant | MODIFIER | c.1303+840G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258166 | |||||||
| chr21:41258450 | T | C | 8 | a0001c0001t0005g0006 a0001c0001t0005g0009 a0001c0001t0005g0023 others(5): Show |
8 | HG02055.hp2 HG02258.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1303+1124T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258450 | |||||||
| chr21:41258604 | A | G | 194 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(191): Show |
196 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(193): Show |
intron_variant | MODIFIER | c.1303+1278A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258604 | |||||||
| chr21:41258674 | T | G | 28 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(25): Show |
28 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.1303+1348T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258674 | |||||||
| chr21:41258677 | A | AT | 175 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(172): Show |
177 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(174): Show |
intron_variant | MODIFIER | c.1303+1351_1303+135 others(5): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258677 | |||||||
| chr21:41258762 | A | G | 1 | a0002c0005t0041g0139 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1303+1436A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258762 | |||||||
| chr21:41258776 | C | T | 3 | a0001c0001t0004g0019 a0001c0001t0004g0130 a0001c0001t0004g0216 |
3 | HG01074.hp2 HG01175.hp1 HG01934.hp2 |
intron_variant | MODIFIER | c.1303+1450C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258776 | |||||||
| chr21:41258787 | G | A | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+1461G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258787 | |||||||
| chr21:41258817 | T | C | 1 | a0001c0001t0003g0014 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1303+1491T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258817 | |||||||
| chr21:41258830 | G | GT | 4 | a0001c0001t0029g0146 a0001c0001t0031g0237 a0001c0001t0040g0085 others(1): Show |
4 | HG01106.hp2 HG03139.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.1303+1510dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41258830 | ||||||
| chr21:41258981 | T | G | 1 | a0001c0001t0001g0224 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1303+1655T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41258981 | |||||||
| chr21:41259010 | G | A | 5 | a0001c0001t0009g0227 a0001c0001t0020g0151 a0001c0001t0020g0262 others(2): Show |
5 | HG02109.hp2 HG02145.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.1303+1684G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259010 | |||||||
| chr21:41259216 | C | G | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1303+1890C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259216 | |||||||
| chr21:41259248 | T | C | 1 | a0002c0005t0041g0139 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1303+1922T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259248 | |||||||
| chr21:41259322 | G | A | 2 | a0001c0001t0040g0085 a0001c0006t0052g0261 |
2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1303+1996G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259322 | |||||||
| chr21:41259354 | A | G | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2028A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259354 | |||||||
| chr21:41259386 | C | T | 1 | a0001c0001t0009g0227 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1303+2060C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259386 | |||||||
| chr21:41259422 | G | T | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2096G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259422 | |||||||
| chr21:41259441 | C | CT | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2127dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41259441 | ||||||
| chr21:41259441 | CT | C | 95 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(92): Show |
95 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(92): Show |
intron_variant | MODIFIER | c.1303+2127delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41259441 | ||||||
| chr21:41259802 | CTTTT | C | 5 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(2): Show |
5 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2477_1303+248 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259802 | |||||||
| chr21:41259812 | CT | C | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2494delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41259812 | ||||||
| chr21:41259877 | G | C | 2 | a0001c0001t0040g0085 a0001c0006t0052g0261 |
2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1303+2551G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41259877 | |||||||
| chr21:41260041 | G | T | 1 | a0001c0001t0009g0227 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1303+2715G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260041 | |||||||
| chr21:41260085 | C | T | 1 | a0001c0001t0021g0086 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1303+2759C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260085 | |||||||
| chr21:41260089 | G | T | 1 | a0001c0001t0003g0016 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1303+2763G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260089 | |||||||
| chr21:41260274 | A | G | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+2948A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260274 | |||||||
| chr21:41260347 | G | A | 1 | a0001c0001t0038g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1303+3021G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260347 | |||||||
| chr21:41260353 | C | T | 13 | a0001c0001t0009g0227 a0001c0001t0014g0004 a0001c0001t0014g0197 others(10): Show |
13 | HG01167.hp2 HG01169.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1303+3027C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260353 | |||||||
| chr21:41260449 | T | C | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+3123T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260449 | |||||||
| chr21:41260491 | G | A | 1 | a0001c0002t0001g0057 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1303+3165G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260491 | |||||||
| chr21:41260500 | T | C | 5 | a0001c0001t0009g0227 a0001c0001t0020g0151 a0001c0001t0020g0262 others(2): Show |
5 | HG02109.hp2 HG02145.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.1303+3174T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260500 | |||||||
| chr21:41260658 | C | T | 45 | a0001c0001t0005g0006 a0001c0001t0005g0009 a0001c0001t0005g0023 others(42): Show |
47 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(44): Show |
intron_variant | MODIFIER | c.1303+3332C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260658 | |||||||
| chr21:41260749 | G | A | 4 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(1): Show |
4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1303+3423G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260749 | |||||||
| chr21:41260766 | A | T | 1 | a0001c0001t0054g0191 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1303+3440A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260766 | |||||||
| chr21:41260793 | C | T | 23 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(20): Show |
23 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(20): Show |
intron_variant | MODIFIER | c.1303+3467C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260793 | |||||||
| chr21:41260818 | G | T | 1 | a0001c0002t0001g0196 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1303+3492G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260818 | |||||||
| chr21:41260843 | G | A | 26 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(23): Show |
26 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(23): Show |
intron_variant | MODIFIER | c.1303+3517G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41260843 | |||||||
| chr21:41260890 | AT | A | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+3573delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41260890 | ||||||
| chr21:41261111 | C | T | 2 | a0001c0001t0029g0146 a0001c0001t0031g0237 |
2 | HG01106.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1303+3785C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261111 | |||||||
| chr21:41261138 | A | G | 214 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(211): Show |
216 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(213): Show |
intron_variant | MODIFIER | c.1303+3812A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261138 | |||||||
| chr21:41261272 | G | A | 3 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 |
3 | HG01167.hp2 HG01169.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1303+3946G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261272 | |||||||
| chr21:41261274 | A | G | 1 | a0001c0001t0028g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1303+3948A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261274 | |||||||
| chr21:41261341 | T | C | 27 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(24): Show |
27 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.1303+4015T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261341 | |||||||
| chr21:41261520 | T | A | 1 | a0001c0002t0001g0046 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1303+4194T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261520 | |||||||
| chr21:41261763 | T | A | 30 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(27): Show |
30 | HG00738.hp2 HG01106.hp2 HG01256.hp1 others(27): Show |
intron_variant | MODIFIER | c.1303+4437T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41261763 | |||||||
| chr21:41262098 | C | A | 1 | a0001c0001t0030g0207 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1303+4772C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262098 | |||||||
| chr21:41262229 | G | A | 1 | a0001c0001t0028g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1303+4903G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262229 | |||||||
| chr21:41262267 | A | G | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+4941A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262267 | |||||||
| chr21:41262339 | T | C | 1 | a0002c0005t0041g0139 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1303+5013T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262339 | |||||||
| chr21:41262414 | C | A | 1 | a0001c0002t0001g0032 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1303+5088C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262414 | |||||||
| chr21:41262416 | C | T | 1 | a0001c0001t0018g0054 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1303+5090C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262416 | |||||||
| chr21:41262526 | T | A | 1 | a0001c0001t0009g0227 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1303+5200T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262526 | |||||||
| chr21:41262738 | T | G | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1303+5412T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262738 | |||||||
| chr21:41262770 | G | T | 1 | a0001c0002t0059g0265 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1303+5444G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262770 | |||||||
| chr21:41262831 | T | C | 1 | a0001c0002t0001g0122 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1303+5505T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262831 | |||||||
| chr21:41262870 | T | G | 1 | a0001c0001t0002g0157 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1303+5544T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262870 | |||||||
| chr21:41262914 | C | T | 48 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(45): Show |
48 | HG00738.hp2 HG00741.hp2 HG01106.hp2 others(45): Show |
intron_variant | MODIFIER | c.1303+5588C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262914 | |||||||
| chr21:41262964 | G | C | 60 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0224 others(57): Show |
60 | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.1303+5638G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41262964 | |||||||
| chr21:41263195 | T | C | 1 | a0001c0001t0027g0192 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1303+5869T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263195 | |||||||
| chr21:41263460 | A | T | 2 | a0001c0002t0001g0024 a0001c0002t0001g0047 |
2 | HG01496.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1303+6134A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263460 | |||||||
| chr21:41263740 | T | A | 1 | a0001c0001t0004g0163 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1303+6414T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263740 | |||||||
| chr21:41263749 | G | A | 75 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(72): Show |
77 | HG00738.hp2 HG01070.hp2 HG01071.hp2 others(74): Show |
intron_variant | MODIFIER | c.1303+6423G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263749 | |||||||
| chr21:41263841 | G | A | 1 | a0001c0002t0001g0125 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1303+6515G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263841 | |||||||
| chr21:41263857 | A | G | 1 | a0001c0002t0001g0132 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1303+6531A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263857 | |||||||
| chr21:41263874 | A | G | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+6548A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263874 | |||||||
| chr21:41263940 | C | G | 1 | a0002c0005t0041g0139 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1303+6614C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41263940 | |||||||
| chr21:41264535 | T | C | 16 | a0001c0001t0013g0115 a0001c0001t0032g0211 a0001c0002t0001g0065 others(13): Show |
16 | HG01081.hp2 HG01167.hp1 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.1303+7209T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264535 | |||||||
| chr21:41264574 | C | T | 24 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(21): Show |
24 | HG00408.hp1 HG01074.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.1303+7248C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264574 | |||||||
| chr21:41264603 | A | G | 2 | a0001c0001t0053g0077 a0001c0001t0054g0191 |
2 | HG02922.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1303+7277A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264603 | |||||||
| chr21:41264768 | G | C | 1 | a0001c0001t0015g0091 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1303+7442G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264768 | |||||||
| chr21:41264861 | A | G | 1 | a0001c0001t0002g0149 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1303+7535A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41264861 | |||||||
| chr21:41265173 | C | CT | 26 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(23): Show |
26 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(23): Show |
intron_variant | MODIFIER | c.1303+7861dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41265173 | ||||||
| chr21:41265173 | CT | C | 52 | a0001c0001t0002g0066 a0001c0001t0005g0006 a0001c0001t0005g0009 others(49): Show |
54 | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(51): Show |
intron_variant | MODIFIER | c.1303+7861delT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41265173 | ||||||
| chr21:41265192 | C | T | 1 | a0001c0001t0017g0269 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1303+7866C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265192 | |||||||
| chr21:41265288 | C | T | 48 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(45): Show |
48 | HG00738.hp2 HG00741.hp2 HG01106.hp2 others(45): Show |
intron_variant | MODIFIER | c.1303+7962C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265288 | |||||||
| chr21:41265295 | G | T | 30 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(27): Show |
30 | HG00738.hp2 HG01106.hp2 HG01256.hp1 others(27): Show |
intron_variant | MODIFIER | c.1303+7969G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265295 | |||||||
| chr21:41265410 | G | A | 1 | a0001c0001t0004g0163 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1303+8084G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265410 | |||||||
| chr21:41265524 | G | A | 1 | a0001c0001t0002g0050 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1303+8198G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265524 | |||||||
| chr21:41265665 | A | T | 5 | a0001c0001t0012g0138 a0001c0001t0012g0143 a0001c0001t0012g0153 others(2): Show |
5 | HG00741.hp2 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1303+8339A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265665 | |||||||
| chr21:41265671 | A | G | 1 | a0001c0001t0040g0085 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1303+8345A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265671 | |||||||
| chr21:41265793 | T | C | 4 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(1): Show |
4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1303+8467T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265793 | |||||||
| chr21:41265805 | T | G | 1 | a0001c0001t0006g0108 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1303+8479T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41265805 | |||||||
| chr21:41265999 | C | CT | 6 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1303+8681dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41265999 | ||||||
| chr21:41266104 | C | T | 1 | a0001c0001t0038g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1303+8778C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41266104 | |||||||
| chr21:41266153 | CTTCT | C | 2 | a0001c0002t0025g0145 a0001c0004t0025g0083 |
2 | NA18980.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1303+8833_1303+883 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266153 | ||||||
| chr21:41266254 | C | G | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1303+8928C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41266254 | |||||||
| chr21:41266370 | A | G | 4 | a0001c0001t0020g0151 a0001c0001t0020g0262 a0001c0001t0021g0028 others(1): Show |
4 | HG02109.hp2 HG02145.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1304-9001A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41266370 | |||||||
| chr21:41266758 | G | A | 119 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(116): Show |
121 | HG00408.hp1 HG00738.hp2 HG00741.hp2 others(118): Show |
intron_variant | MODIFIER | c.1304-8613G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41266758 | |||||||
| chr21:41266946 | TTG | T | 65 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0002g0008 others(62): Show |
65 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(62): Show |
intron_variant | MODIFIER | c.1304-8391_1304-839 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266946 | ||||||
| chr21:41266946 | TTGTG | T | 139 | a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0232 others(136): Show |
139 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.1304-8393_1304-839 others(8): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266946 | ||||||
| chr21:41266946 | TTGTGTG | T | 53 | a0001c0001t0005g0006 a0001c0001t0005g0009 a0001c0001t0005g0023 others(50): Show |
55 | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(52): Show |
intron_variant | MODIFIER | c.1304-8395_1304-839 others(10): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266946 | ||||||
| chr21:41266946 | TTGTGTGT others(1): Show |
T | 4 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(1): Show |
4 | HG01167.hp2 HG01169.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.1304-8397_1304-839 others(12): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41266946 | ||||||
| chr21:41267004 | G | A | 26 | a0001c0001t0005g0006 a0001c0001t0005g0009 a0001c0001t0005g0023 others(23): Show |
28 | HG01099.hp2 HG01192.hp2 HG01255.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-8367G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267004 | |||||||
| chr21:41267010 | A | T | 2 | a0001c0002t0001g0024 a0001c0002t0001g0047 |
2 | HG01496.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1304-8361A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267010 | |||||||
| chr21:41267048 | G | T | 1 | a0001c0001t0012g0138 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1304-8323G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267048 | |||||||
| chr21:41267123 | C | T | 9 | a0001c0001t0005g0031 a0001c0001t0005g0070 a0001c0001t0005g0141 others(6): Show |
9 | HG02280.hp1 HG02723.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1304-8248C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267123 | |||||||
| chr21:41267421 | A | G | 2 | a0001c0001t0005g0148 a0001c0003t0005g0052 |
2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1304-7950A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267421 | |||||||
| chr21:41267771 | C | T | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-7600C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267771 | |||||||
| chr21:41267903 | C | T | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-7468C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267903 | |||||||
| chr21:41267904 | G | A | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1304-7467G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41267904 | |||||||
| chr21:41268095 | G | T | 27 | a0001c0001t0001g0258 a0001c0001t0003g0014 a0001c0001t0003g0016 others(24): Show |
27 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.1304-7276G>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268095 | |||||||
| chr21:41268440 | A | G | 6 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1304-6931A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268440 | |||||||
| chr21:41268476 | A | G | 1 | a0001c0002t0062g0015 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1304-6895A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268476 | |||||||
| chr21:41268483 | G | A | 28 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(25): Show |
28 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-6888G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268483 | |||||||
| chr21:41268499 | C | G | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-6872C>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268499 | |||||||
| chr21:41268624 | A | G | 1 | a0002c0005t0041g0139 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1304-6747A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268624 | |||||||
| chr21:41268634 | T | C | 1 | a0001c0001t0039g0005 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1304-6737T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268634 | |||||||
| chr21:41268740 | C | A | 1 | a0001c0001t0054g0191 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1304-6631C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268740 | |||||||
| chr21:41268799 | G | GT | 7 | a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0003g0198 others(4): Show |
7 | HG01361.hp2 HG01884.hp2 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-6565dupT | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41268799 | ||||||
| chr21:41268976 | C | T | 29 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(26): Show |
29 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1304-6395C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41268976 | |||||||
| chr21:41269475 | T | C | 118 | a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0042 others(115): Show |
120 | HG00408.hp1 HG00738.hp2 HG00741.hp2 others(117): Show |
intron_variant | MODIFIER | c.1304-5896T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41269475 | |||||||
| chr21:41269986 | A | T | 96 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(93): Show |
96 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
intron_variant | MODIFIER | c.1304-5385A>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41269986 | |||||||
| chr21:41270054 | T | C | 1 | a0001c0001t0040g0085 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1304-5317T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270054 | |||||||
| chr21:41270055 | C | T | 88 | a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0042 others(85): Show |
90 | HG00738.hp2 HG00741.hp2 HG01070.hp2 others(87): Show |
intron_variant | MODIFIER | c.1304-5316C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270055 | |||||||
| chr21:41270111 | A | G | 186 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(183): Show |
187 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.1304-5260A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270111 | |||||||
| chr21:41270169 | A | G | 28 | a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0042 others(25): Show |
28 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-5202A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270169 | |||||||
| chr21:41270395 | C | T | 6 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1304-4976C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270395 | |||||||
| chr21:41270420 | T | TTA | 3 | a0001c0001t0007g0076 a0001c0001t0011g0069 a0001c0001t0037g0168 |
3 | HG02559.hp1 HG02896.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1304-4940_1304-493 others(6): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41270420 | ||||||
| chr21:41270478 | G | A | 5 | a0001c0001t0004g0019 a0001c0001t0004g0026 a0001c0001t0004g0130 others(2): Show |
5 | HG01074.hp2 HG01175.hp1 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-4893G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270478 | |||||||
| chr21:41270528 | T | C | 1 | a0002c0005t0041g0139 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1304-4843T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270528 | |||||||
| chr21:41270554 | T | C | 1 | a0001c0001t0029g0146 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1304-4817T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270554 | |||||||
| chr21:41270691 | A | G | 1 | a0001c0001t0017g0269 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1304-4680A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270691 | |||||||
| chr21:41270715 | A | G | 244 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(241): Show |
247 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(244): Show |
intron_variant | MODIFIER | c.1304-4656A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270715 | |||||||
| chr21:41270753 | T | C | 1 | a0001c0001t0003g0128 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1304-4618T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270753 | |||||||
| chr21:41270772 | A | C | 96 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(93): Show |
96 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
intron_variant | MODIFIER | c.1304-4599A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270772 | |||||||
| chr21:41270807 | T | C | 1 | a0001c0006t0052g0261 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1304-4564T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270807 | |||||||
| chr21:41270898 | A | G | 26 | a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0042 others(23): Show |
26 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(23): Show |
intron_variant | MODIFIER | c.1304-4473A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270898 | |||||||
| chr21:41270986 | A | G | 2 | a0001c0001t0053g0077 a0001c0001t0054g0191 |
2 | HG02922.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1304-4385A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41270986 | |||||||
| chr21:41271098 | T | C | 2 | a0001c0001t0001g0171 a0001c0002t0001g0082 |
2 | HG02074.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.1304-4273T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271098 | |||||||
| chr21:41271224 | T | TGGATCTT others(314): Show |
13 | a0001c0001t0007g0076 a0001c0001t0007g0090 a0001c0001t0007g0113 others(10): Show |
13 | HG02451.hp1 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.1304-4133_1304-413 others(325): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41271224 | ||||||
| chr21:41271224 | T | TGGATCTT others(314): Show |
6 | a0001c0001t0007g0003 a0001c0001t0007g0051 a0001c0001t0007g0080 others(3): Show |
6 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1304-4133_1304-413 others(325): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | 41271224 | ||||||
| chr21:41271410 | A | G | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-3961A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271410 | |||||||
| chr21:41271441 | G | A | 1 | a0001c0001t0054g0191 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1304-3930G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271441 | |||||||
| chr21:41271601 | A | G | 2 | a0001c0001t0019g0010 a0001c0001t0019g0209 |
2 | HG01109.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1304-3770A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271601 | |||||||
| chr21:41271683 | T | C | 28 | a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0042 others(25): Show |
28 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-3688T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271683 | |||||||
| chr21:41271769 | C | T | 7 | a0001c0002t0001g0140 a0001c0002t0001g0152 a0001c0002t0001g0206 others(4): Show |
7 | HG01070.hp1 HG01168.hp1 HG01516.hp1 others(4): Show |
intron_variant | MODIFIER | c.1304-3602C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271769 | |||||||
| chr21:41271802 | A | G | 184 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(181): Show |
185 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(182): Show |
intron_variant | MODIFIER | c.1304-3569A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271802 | |||||||
| chr21:41271825 | G | A | 1 | a0001c0001t0005g0023 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1304-3546G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271825 | |||||||
| chr21:41271845 | A | C | 244 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(241): Show |
247 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(244): Show |
intron_variant | MODIFIER | c.1304-3526A>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271845 | |||||||
| chr21:41271918 | C | T | 58 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0027 others(55): Show |
59 | HG00408.hp1 HG00408.hp2 HG01069.hp2 others(56): Show |
intron_variant | MODIFIER | c.1304-3453C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41271918 | |||||||
| chr21:41272041 | T | C | 244 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(241): Show |
247 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(244): Show |
intron_variant | MODIFIER | c.1304-3330T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272041 | |||||||
| chr21:41272186 | T | A | 1 | a0002c0005t0041g0139 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1304-3185T>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272186 | |||||||
| chr21:41272277 | C | T | 2 | a0001c0002t0001g0061 a0001c0002t0001g0137 |
2 | NA18985.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.1304-3094C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272277 | |||||||
| chr21:41272291 | A | G | 1 | a0001c0002t0001g0094 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1304-3080A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272291 | |||||||
| chr21:41272321 | G | C | 1 | a0001c0002t0013g0177 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1304-3050G>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272321 | |||||||
| chr21:41272525 | G | A | 23 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(20): Show |
23 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(20): Show |
intron_variant | MODIFIER | c.1304-2846G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272525 | |||||||
| chr21:41272530 | T | C | 1 | a0001c0001t0048g0131 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1304-2841T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272530 | |||||||
| chr21:41272588 | G | A | 3 | a0001c0001t0004g0019 a0001c0001t0004g0130 a0001c0001t0004g0216 |
3 | HG01074.hp2 HG01175.hp1 HG01934.hp2 |
intron_variant | MODIFIER | c.1304-2783G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272588 | |||||||
| chr21:41272648 | A | G | 1 | a0001c0001t0028g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1304-2723A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272648 | |||||||
| chr21:41272656 | C | T | 1 | a0001c0001t0005g0009 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1304-2715C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272656 | |||||||
| chr21:41272662 | T | C | 1 | a0001c0001t0031g0237 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1304-2709T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272662 | |||||||
| chr21:41272708 | C | T | 1 | a0001c0001t0017g0269 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1304-2663C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272708 | |||||||
| chr21:41272736 | C | A | 30 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0027 others(27): Show |
31 | HG00408.hp2 HG01069.hp2 HG01243.hp2 others(28): Show |
intron_variant | MODIFIER | c.1304-2635C>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272736 | |||||||
| chr21:41272803 | G | A | 2 | a0001c0001t0029g0146 a0001c0001t0031g0237 |
2 | HG01106.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1304-2568G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272803 | |||||||
| chr21:41272958 | C | T | 27 | a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0042 others(24): Show |
27 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.1304-2413C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41272958 | |||||||
| chr21:41273055 | T | C | 28 | a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0042 others(25): Show |
28 | HG00738.hp2 HG01256.hp1 HG01258.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-2316T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273055 | |||||||
| chr21:41273204 | G | A | 1 | a0001c0002t0001g0259 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1304-2167G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273204 | |||||||
| chr21:41273401 | T | G | 1 | a0001c0002t0001g0132 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1304-1970T>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273401 | |||||||
| chr21:41273810 | T | C | 125 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(122): Show |
125 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.1304-1561T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273810 | |||||||
| chr21:41273921 | C | T | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-1450C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41273921 | |||||||
| chr21:41274011 | G | A | 28 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 others(25): Show |
28 | HG00408.hp1 HG01074.hp2 HG01175.hp1 others(25): Show |
intron_variant | MODIFIER | c.1304-1360G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274011 | |||||||
| chr21:41274335 | G | A | 2 | a0001c0001t0001g0258 a0001c0001t0054g0191 |
2 | HG03471.hp1 NA18944.hp2 |
intron_variant | MODIFIER | c.1304-1036G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274335 | |||||||
| chr21:41274525 | G | A | 18 | a0001c0001t0007g0003 a0001c0001t0007g0051 a0001c0001t0007g0076 others(15): Show |
18 | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1304-846G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274525 | |||||||
| chr21:41274543 | T | C | 2 | a0001c0001t0040g0085 a0001c0006t0052g0261 |
2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1304-828T>C | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274543 | |||||||
| chr21:41274591 | A | G | 243 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(240): Show |
246 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(243): Show |
intron_variant | MODIFIER | c.1304-780A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274591 | |||||||
| chr21:41274802 | G | A | 5 | a0001c0001t0005g0148 a0001c0001t0005g0160 a0001c0001t0005g0167 others(2): Show |
5 | HG02280.hp1 HG02809.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.1304-569G>A | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41274802 | |||||||
| chr21:41275007 | C | T | 1 | a0001c0001t0051g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1304-364C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275007 | |||||||
| chr21:41275041 | C | T | 2 | a0001c0001t0029g0146 a0001c0001t0031g0237 |
2 | HG01106.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1304-330C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275041 | |||||||
| chr21:41275064 | C | T | 5 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(2): Show |
5 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1304-307C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275064 | |||||||
| chr21:41275065 | C | T | 242 | a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0187 others(239): Show |
245 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(242): Show |
intron_variant | MODIFIER | c.1304-306C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275065 | |||||||
| chr21:41275165 | A | G | 5 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(2): Show |
5 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1304-206A>G | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275165 | |||||||
| chr21:41275363 | C | T | 6 | a0001c0001t0014g0004 a0001c0001t0014g0197 a0001c0001t0014g0251 others(3): Show |
6 | HG01167.hp2 HG01169.hp2 HG02723.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.1304-8C>T | BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | chr21 | 41275363 |