Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 84220 |
| ensemblid | ENSG00000015568.13 |
| hgncid | 32418 |
| symbol | RGPD5 |
| name | RANBP2 like and GRIP domain containing 5 |
| refseq_nuc | NM_005054.3 |
| refseq_prot | NP_005045.2 |
| ensembl_nuc | ENST00000016946.8 |
| ensembl_prot | ENSP00000016946.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 109794305 |
| end | 109857705 |
| strand | + |
| ver | v1.2 |
| region | chr2:109794305-109857705 |
| region5000 | chr2:109789305-109862705 |
| regionname0 | RGPD5_chr2_109794305_109857705 |
| regionname5000 | RGPD5_chr2_109789305_109862705 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 1765 | 11 | 7 | 1 | 2 | 1 | 0 | 2 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0002 | 0/0 | 1765 | 6 | 0 | 2 | 1 | 3 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0003 | 0/0 | 1765 | 5 | 0 | 0 | 3 | 2 | 0 | 2 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0004 | 0/0 | 1765 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0005 | 0/0 | 1765 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0006 | 0/0 | 1765 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0007 | 0/0 | 1765 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0008 | 0/0 | 1765 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0009 | 0/0 | 1765 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0010 | 0/0 | 1765 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0011 | 0/0 | 1765 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0012 | 0/0 | 1765 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0013 | 0/0 | 1765 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0014 | 0/0 | 1765 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0015 | 0/0 | 1765 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0016 | 0/0 | 1765 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0017 | 0/0 | 1765 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(1760): Show |
chr2 | 109789305 | 109862705 |
| a0018 | 0/0 | 633 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | MRRSK others(628): Show |
chr2 | 109789305 | 109862705 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 5295 | 7 | 4 | 1 | 2 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0001c0005 | 0/0 | 5295 | 2 | 2 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0001c0009 | 0/0 | 5295 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0001c0011 | 0/0 | 5295 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0002c0002 | 0/0 | 5295 | 6 | 0 | 2 | 1 | 3 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0003c0003 | 0/0 | 5295 | 5 | 0 | 0 | 3 | 2 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0004c0004 | 0/0 | 5295 | 3 | 3 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0005c0006 | 0/0 | 5295 | 2 | 2 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0006c0016 | 0/0 | 5295 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0007c0014 | 0/0 | 5295 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0008c0010 | 0/0 | 5295 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0009c0013 | 0/0 | 5295 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0010c0019 | 0/0 | 5295 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0011c0020 | 0/0 | 5295 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0012c0008 | 0/0 | 5295 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0013c0012 | 0/0 | 5295 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0014c0015 | 0/0 | 5295 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0015c0017 | 0/0 | 5295 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0016c0018 | 0/0 | 5295 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0017c0007 | 0/0 | 5295 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5290): Show |
chr2 | 109789305 | 109862705 | ||
| a0018c0021 | 0/0 | 5305 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ATGAG others(5300): Show |
chr2 | 109789305 | 109862705 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 7268 | 5 | 3 | 0 | 2 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0001c0001t0009 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0001c0001t0010 | 0/0 | 7268 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0001c0005t0001 | 0/0 | 7268 | 2 | 2 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0001c0009t0003 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0001c0011t0001 | 0/0 | 7268 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0002c0002t0003 | 0/0 | 7268 | 4 | 0 | 1 | 1 | 2 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0002c0002t0017 | 0/0 | 7268 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0002c0002t0018 | 0/0 | 7268 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0003c0003t0002 | 0/0 | 7268 | 4 | 0 | 0 | 3 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0003c0003t0016 | 0/0 | 7268 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0004c0004t0013 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0004c0004t0014 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0004c0004t0015 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0005c0006t0004 | 0/0 | 7268 | 2 | 2 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0006c0016t0002 | 0/0 | 7268 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0007c0014t0003 | 0/0 | 7268 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0008c0010t0008 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0009c0013t0002 | 0/0 | 7268 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0010c0019t0003 | 0/0 | 7268 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0011c0020t0012 | 0/0 | 7268 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0012c0008t0007 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0013c0012t0020 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0014c0015t0006 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0015c0017t0019 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0016c0018t0011 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0017c0007t0005 | 0/0 | 7268 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7263): Show |
chr2 | 109789305 | 109862705 |
| a0018c0021t0002 | 0/0 | 7278 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | ACAGT others(7273): Show |
chr2 | 109789305 | 109862705 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0001t0009g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0001t0010g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0005t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0005t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0009t0003g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0001c0011t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0002c0002t0003g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0002c0002t0003g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0002c0002t0003g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0002c0002t0003g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0002c0002t0017g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0002c0002t0018g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0003c0003t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0003c0003t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0003c0003t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0003c0003t0002g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0003c0003t0016g0030 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0004c0004t0013g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0004c0004t0014g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0004c0004t0015g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0005c0006t0004g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0005c0006t0004g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0006c0016t0002g0025 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0007c0014t0003g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0008c0010t0008g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0009c0013t0002g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0010c0019t0003g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0011c0020t0012g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0012c0008t0007g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0013c0012t0020g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0014c0015t0006g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0015c0017t0019g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0016c0018t0011g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0017c0007t0005g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| a0018c0021t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0006 | c0016 | t0002 | g0025 | EUR | GBR | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG00140 | hp2 | a0007 | c0014 | t0003 | g0002 | EUR | GBR | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG00280 | hp1 | a0003 | c0003 | t0002 | g0026 | EUR | FIN | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG00280 | hp2 | a0002 | c0002 | t0017 | g0004 | EUR | FIN | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG00323 | hp1 | a0002 | c0002 | t0003 | g0023 | EUR | FIN | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG00323 | hp2 | a0001 | c0011 | t0001 | g0016 | EUR | FIN | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG00639 | hp1 | a0002 | c0002 | t0003 | g0003 | AMR | PUR | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG00639 | hp2 | a0001 | c0001 | t0010 | g0006 | AMR | PUR | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG01884 | hp2 | a0008 | c0010 | t0008 | g0021 | AFR | ACB | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG01928 | hp1 | a0002 | c0002 | t0018 | g0009 | AMR | PEL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG01928 | hp2 | a0009 | c0013 | t0002 | g0020 | AMR | PEL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02027 | hp1 | a0003 | c0003 | t0002 | g0024 | EAS | KHV | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02027 | hp2 | a0010 | c0019 | t0003 | g0012 | EAS | KHV | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02080 | hp1 | a0002 | c0002 | t0003 | g0013 | EAS | KHV | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02080 | hp2 | a0011 | c0020 | t0012 | g0029 | EAS | KHV | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02280 | hp1 | a0012 | c0008 | t0007 | g0037 | AFR | ACB | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02280 | hp2 | a0013 | c0012 | t0020 | g0036 | AFR | ACB | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02615 | hp1 | a0004 | c0004 | t0013 | g0034 | AFR | GWD | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02717 | hp1 | a0014 | c0015 | t0006 | g0028 | AFR | GWD | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | GWD | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02723 | hp1 | a0015 | c0017 | t0019 | g0019 | AFR | GWD | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG02723 | hp2 | a0001 | c0005 | t0001 | g0038 | AFR | GWD | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG03209 | hp1 | a0004 | c0004 | t0014 | g0031 | AFR | MSL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG03209 | hp2 | a0001 | c0009 | t0003 | g0040 | AFR | MSL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG03225 | hp1 | a0016 | c0018 | t0011 | g0001 | AFR | MSL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG03225 | hp2 | a0017 | c0007 | t0005 | g0007 | AFR | MSL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG03453 | hp1 | a0001 | c0005 | t0001 | g0039 | AFR | MSL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG03453 | hp2 | a0005 | c0006 | t0004 | g0027 | AFR | MSL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| NA18906 | hp1 | a0005 | c0006 | t0004 | g0033 | AFR | YRI | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| NA18906 | hp2 | a0004 | c0004 | t0015 | g0035 | AFR | YRI | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| NA18943 | hp1 | a0003 | c0003 | t0002 | g0015 | EAS | JPT | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| NA18982 | hp1 | a0003 | c0003 | t0002 | g0022 | EAS | JPT | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| NA20805 | hp1 | a0002 | c0002 | t0003 | g0005 | EUR | TSI | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| NA20805 | hp2 | a0003 | c0003 | t0016 | g0030 | EUR | TSI | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG03471 | hp1 | a0018 | c0021 | t0002 | g0032 | AFR | MSL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| HG03471 | hp2 | a0001 | c0001 | t0009 | g0018 | AFR | MSL | RGPD5_chr2_109789305_109862705 | RGPD5 | chr2 | 109789305 | 109862705 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:109824336 | G | A | 9 | a0002 a0003 a0005 others(6): Show |
19 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(16): Show |
missense_variant | MODERATE | c.1391G>A | p.Arg464His | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 10/23 | 1552/7268 | 1391/5298 | 464/1765 | chr2 | 109824336 | |||
| chr2:109824879 | A | G | 1 | a0006 | 1 | HG00140.hp1 | missense_variant | MODERATE | c.1684A>G | p.Thr562Ala | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 12/23 | 1845/7268 | 1684/5298 | 562/1765 | chr2 | 109824879 | |||
| chr2:109825963 | A | ATTATTTT others(3): Show |
1 | a0018 | 1 | HG03471.hp1 | frameshift_variant | HIGH | c.1847_1848insTATTTT others(4): Show |
p.Lys618fs | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2009/7268 | 1848/5298 | 616/1765 | INFO_REALIGN_3_PRIME | chr2 | 109825963 | ||
| chr2:109825966 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1849A>T | p.Ile617Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2010/7268 | 1849/5298 | 617/1765 | chr2 | 109825966 | |||
| chr2:109825969 | A | T | 1 | a0018 | 1 | HG03471.hp1 | stop_gained | HIGH | c.1852A>T | p.Lys618* | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2013/7268 | 1852/5298 | 618/1765 | chr2 | 109825969 | |||
| chr2:109825970 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1853A>T | p.Lys618Met | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2014/7268 | 1853/5298 | 618/1765 | chr2 | 109825970 | |||
| chr2:109825971 | G | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1854G>T | p.Lys618Asn | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2015/7268 | 1854/5298 | 618/1765 | chr2 | 109825971 | |||
| chr2:109825972 | A | T | 1 | a0018 | 1 | HG03471.hp1 | stop_gained | HIGH | c.1855A>T | p.Lys619* | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2016/7268 | 1855/5298 | 619/1765 | chr2 | 109825972 | |||
| chr2:109825973 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1856A>T | p.Lys619Met | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2017/7268 | 1856/5298 | 619/1765 | chr2 | 109825973 | |||
| chr2:109825974 | G | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1857G>T | p.Lys619Asn | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2018/7268 | 1857/5298 | 619/1765 | chr2 | 109825974 | |||
| chr2:109825976 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1859A>T | p.Asn620Ile | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2020/7268 | 1859/5298 | 620/1765 | chr2 | 109825976 | |||
| chr2:109825978 | A | C | 1 | a0013 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.1861A>C | p.Ser621Arg | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2022/7268 | 1861/5298 | 621/1765 | chr2 | 109825978 | |||
| chr2:109825978 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1861A>T | p.Ser621Cys | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2022/7268 | 1861/5298 | 621/1765 | chr2 | 109825978 | |||
| chr2:109825979 | G | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1862G>T | p.Ser621Ile | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2023/7268 | 1862/5298 | 621/1765 | chr2 | 109825979 | |||
| chr2:109825981 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1864A>T | p.Ile622Phe | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2025/7268 | 1864/5298 | 622/1765 | chr2 | 109825981 | |||
| chr2:109825984 | C | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1867C>T | p.Pro623Ser | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2028/7268 | 1867/5298 | 623/1765 | chr2 | 109825984 | |||
| chr2:109825985 | C | A | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1868C>A | p.Pro623His | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2029/7268 | 1868/5298 | 623/1765 | chr2 | 109825985 | |||
| chr2:109825987 | G | T | 1 | a0018 | 1 | HG03471.hp1 | stop_gained | HIGH | c.1870G>T | p.Glu624* | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2031/7268 | 1870/5298 | 624/1765 | chr2 | 109825987 | |||
| chr2:109825989 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1872A>T | p.Glu624Asp | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2033/7268 | 1872/5298 | 624/1765 | chr2 | 109825989 | |||
| chr2:109825990 | C | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1873C>T | p.Pro625Ser | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2034/7268 | 1873/5298 | 625/1765 | chr2 | 109825990 | |||
| chr2:109825991 | C | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1874C>T | p.Pro625Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2035/7268 | 1874/5298 | 625/1765 | chr2 | 109825991 | |||
| chr2:109825996 | G | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1879G>T | p.Asp627Tyr | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2040/7268 | 1879/5298 | 627/1765 | chr2 | 109825996 | |||
| chr2:109825999 | C | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1882C>T | p.Pro628Ser | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2043/7268 | 1882/5298 | 628/1765 | chr2 | 109825999 | |||
| chr2:109826000 | C | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1883C>T | p.Pro628Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2044/7268 | 1883/5298 | 628/1765 | chr2 | 109826000 | |||
| chr2:109826017 | C | A | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1900C>A | p.His634Asn | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2061/7268 | 1900/5298 | 634/1765 | chr2 | 109826017 | |||
| chr2:109826020 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1903A>T | p.Ser635Cys | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2064/7268 | 1903/5298 | 635/1765 | chr2 | 109826020 | |||
| chr2:109826021 | G | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1904G>T | p.Ser635Ile | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2065/7268 | 1904/5298 | 635/1765 | chr2 | 109826021 | |||
| chr2:109826023 | G | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1906G>T | p.Val636Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2067/7268 | 1906/5298 | 636/1765 | chr2 | 109826023 | |||
| chr2:109826026 | G | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1909G>T | p.Asp637Tyr | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2070/7268 | 1909/5298 | 637/1765 | chr2 | 109826026 | |||
| chr2:109826027 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.1910A>T | p.Asp637Val | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2071/7268 | 1910/5298 | 637/1765 | chr2 | 109826027 | |||
| chr2:109826032 | C | T | 1 | a0018 | 1 | HG03471.hp1 | stop_gained&splice_region_variant | HIGH | c.1915C>T | p.Gln639* | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2076/7268 | 1915/5298 | 639/1765 | chr2 | 109826032 | |||
| chr2:109826033 | A | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant&splice_region_variant | MODERATE | c.1916A>T | p.Gln639Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2077/7268 | 1916/5298 | 639/1765 | chr2 | 109826033 | |||
| chr2:109826034 | G | T | 1 | a0018 | 1 | HG03471.hp1 | missense_variant&splice_region_variant | MODERATE | c.1917G>T | p.Gln639His | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2078/7268 | 1917/5298 | 639/1765 | chr2 | 109826034 | |||
| chr2:109826351 | G | A | 3 | a0012 a0015 a0017 |
3 | HG02280.hp1 HG02723.hp1 HG03225.hp2 |
missense_variant | MODERATE | c.1968G>A | p.Met656Ile | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 14/23 | 2129/7268 | 1968/5298 | 656/1765 | chr2 | 109826351 | |||
| chr2:109828075 | A | G | 1 | a0012 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.2393A>G | p.Glu798Gly | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/23 | 2554/7268 | 2393/5298 | 798/1765 | chr2 | 109828075 | |||
| chr2:109835903 | G | A | 1 | a0007 | 1 | HG00140.hp2 | missense_variant | MODERATE | c.2782G>A | p.Glu928Lys | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/23 | 2943/7268 | 2782/5298 | 928/1765 | chr2 | 109835903 | |||
| chr2:109835959 | C | A | 7 | a0002 a0007 a0010 others(4): Show |
12 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(9): Show |
missense_variant | MODERATE | c.2838C>A | p.Phe946Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/23 | 2999/7268 | 2838/5298 | 946/1765 | chr2 | 109835959 | |||
| chr2:109836252 | C | G | 8 | a0003 a0004 a0005 others(5): Show |
15 | HG00140.hp1 HG00280.hp1 HG02027.hp1 others(12): Show |
missense_variant | MODERATE | c.3131C>G | p.Pro1044Arg | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/23 | 3292/7268 | 3131/5298 | 1044/1765 | chr2 | 109836252 | |||
| chr2:109836795 | C | A | 2 | a0005 a0018 |
3 | HG03453.hp2 HG03471.hp1 NA18906.hp1 |
missense_variant | MODERATE | c.3674C>A | p.Thr1225Lys | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/23 | 3835/7268 | 3674/5298 | 1225/1765 | chr2 | 109836795 | |||
| chr2:109837557 | G | C | 1 | a0011 | 1 | HG02080.hp2 | missense_variant | MODERATE | c.4436G>C | p.Arg1479Pro | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/23 | 4597/7268 | 4436/5298 | 1479/1765 | chr2 | 109837557 | |||
| chr2:109837604 | A | G | 8 | a0003 a0004 a0005 others(5): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
missense_variant | MODERATE | c.4483A>G | p.Ile1495Val | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/23 | 4644/7268 | 4483/5298 | 1495/1765 | chr2 | 109837604 | |||
| chr2:109837794 | T | C | 8 | a0003 a0004 a0005 others(5): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
missense_variant | MODERATE | c.4673T>C | p.Val1558Ala | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/23 | 4834/7268 | 4673/5298 | 1558/1765 | chr2 | 109837794 | |||
| chr2:109837829 | G | A | 9 | a0003 a0004 a0005 others(6): Show |
16 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(13): Show |
missense_variant | MODERATE | c.4708G>A | p.Gly1570Arg | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/23 | 4869/7268 | 4708/5298 | 1570/1765 | chr2 | 109837829 | |||
| chr2:109845217 | A | G | 2 | a0008 a0017 |
2 | HG01884.hp2 HG03225.hp2 |
missense_variant | MODERATE | c.5036A>G | p.Asn1679Ser | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/23 | 5197/7268 | 5036/5298 | 1679/1765 | chr2 | 109845217 | |||
| chr2:109855876 | G | C | 1 | a0016 | 1 | HG03225.hp1 | missense_variant | MODERATE | c.5278G>C | p.Ala1760Pro | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 5439/7268 | 5278/5298 | 1760/1765 | chr2 | 109855876 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:109808371 | A | G | 1 | a0018c0021 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.603A>G | p.Leu201Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 5/23 | 764/7268 | 603/5298 | 201/1765 | chr2 | 109808371 | |||
| chr2:109813631 | A | G | 14 | a0002c0002 a0003c0003 a0004c0004 others(11): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
synonymous_variant | LOW | c.954A>G | p.Ala318Ala | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/23 | 1115/7268 | 954/5298 | 318/1765 | chr2 | 109813631 | |||
| chr2:109824552 | T | C | 1 | a0015c0017 | 1 | HG02723.hp1 | synonymous_variant | LOW | c.1524T>C | p.His508His | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 11/23 | 1685/7268 | 1524/5298 | 508/1765 | chr2 | 109824552 | |||
| chr2:109824588 | G | A | 1 | a0015c0017 | 1 | HG02723.hp1 | synonymous_variant | LOW | c.1560G>A | p.Val520Val | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 11/23 | 1721/7268 | 1560/5298 | 520/1765 | chr2 | 109824588 | |||
| chr2:109824923 | T | C | 1 | a0013c0012 | 1 | HG02280.hp2 | synonymous_variant | LOW | c.1728T>C | p.Leu576Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 12/23 | 1889/7268 | 1728/5298 | 576/1765 | chr2 | 109824923 | |||
| chr2:109825977 | C | T | 1 | a0018c0021 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.1860C>T | p.Asn620Asn | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2021/7268 | 1860/5298 | 620/1765 | chr2 | 109825977 | |||
| chr2:109826002 | C | T | 1 | a0018c0021 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.1885C>T | p.Leu629Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2046/7268 | 1885/5298 | 629/1765 | chr2 | 109826002 | |||
| chr2:109826004 | G | T | 1 | a0018c0021 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.1887G>T | p.Leu629Leu | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2048/7268 | 1887/5298 | 629/1765 | chr2 | 109826004 | |||
| chr2:109826025 | A | T | 1 | a0018c0021 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.1908A>T | p.Val636Val | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2069/7268 | 1908/5298 | 636/1765 | chr2 | 109826025 | |||
| chr2:109826028 | C | T | 1 | a0018c0021 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.1911C>T | p.Asp637Asp | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/23 | 2072/7268 | 1911/5298 | 637/1765 | chr2 | 109826028 | |||
| chr2:109826423 | T | C | 1 | a0001c0005 | 2 | HG02723.hp2 HG03453.hp1 |
synonymous_variant | LOW | c.2040T>C | p.Tyr680Tyr | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 14/23 | 2201/7268 | 2040/5298 | 680/1765 | chr2 | 109826423 | |||
| chr2:109827929 | G | A | 7 | a0003c0003 a0004c0004 a0005c0006 others(4): Show |
14 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(11): Show |
synonymous_variant | LOW | c.2340G>A | p.Pro780Pro | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 16/23 | 2501/7268 | 2340/5298 | 780/1765 | chr2 | 109827929 | |||
| chr2:109835956 | C | T | 1 | a0001c0011 | 1 | HG00323.hp2 | synonymous_variant | LOW | c.2835C>T | p.Gly945Gly | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/23 | 2996/7268 | 2835/5298 | 945/1765 | chr2 | 109835956 | |||
| chr2:109847917 | G | A | 16 | a0001c0005 a0001c0009 a0002c0002 others(13): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
synonymous_variant | LOW | c.5169G>A | p.Lys1723Lys | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/23 | 5330/7268 | 5169/5298 | 1723/1765 | chr2 | 109847917 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:109855960 | C | T | 18 | a0001c0009t0003 a0002c0002t0003 a0002c0002t0017 others(15): Show |
25 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*64C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 64 | chr2 | 109855960 | ||||||
| chr2:109855989 | G | A | 1 | a0017c0007t0005 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*93G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 93 | chr2 | 109855989 | ||||||
| chr2:109855995 | G | A | 1 | a0017c0007t0005 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*99G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 99 | chr2 | 109855995 | ||||||
| chr2:109856118 | G | A | 1 | a0011c0020t0012 | 1 | HG02080.hp2 | 3_prime_UTR_variant | MODIFIER | c.*222G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 222 | chr2 | 109856118 | ||||||
| chr2:109856125 | C | G | 1 | a0016c0018t0011 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*229C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 229 | chr2 | 109856125 | ||||||
| chr2:109856154 | C | T | 1 | a0013c0012t0020 | 1 | HG02280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*258C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 258 | chr2 | 109856154 | ||||||
| chr2:109856311 | T | C | 1 | a0014c0015t0006 | 1 | HG02717.hp1 | 3_prime_UTR_variant | MODIFIER | c.*415T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 415 | chr2 | 109856311 | ||||||
| chr2:109856358 | T | G | 13 | a0003c0003t0002 a0003c0003t0016 a0004c0004t0013 others(10): Show |
17 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*462T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 462 | chr2 | 109856358 | ||||||
| chr2:109856368 | A | C | 10 | a0003c0003t0002 a0003c0003t0016 a0004c0004t0013 others(7): Show |
13 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*472A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 472 | chr2 | 109856368 | ||||||
| chr2:109856380 | C | T | 8 | a0003c0003t0002 a0003c0003t0016 a0005c0006t0004 others(5): Show |
12 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*484C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 484 | chr2 | 109856380 | ||||||
| chr2:109856382 | C | T | 7 | a0001c0009t0003 a0002c0002t0003 a0002c0002t0017 others(4): Show |
10 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*486C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 486 | chr2 | 109856382 | ||||||
| chr2:109856521 | T | C | 18 | a0001c0009t0003 a0002c0002t0003 a0002c0002t0017 others(15): Show |
25 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*625T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 625 | chr2 | 109856521 | ||||||
| chr2:109856650 | T | C | 1 | a0008c0010t0008 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*754T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 754 | chr2 | 109856650 | ||||||
| chr2:109856694 | C | T | 6 | a0004c0004t0014 a0004c0004t0015 a0005c0006t0004 others(3): Show |
7 | HG01884.hp2 HG02717.hp1 HG02723.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*798C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 798 | chr2 | 109856694 | ||||||
| chr2:109856749 | A | C | 1 | a0015c0017t0019 | 1 | HG02723.hp1 | 3_prime_UTR_variant | MODIFIER | c.*853A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 853 | chr2 | 109856749 | ||||||
| chr2:109856753 | G | A | 1 | a0002c0002t0017 | 1 | HG00280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*857G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 857 | chr2 | 109856753 | ||||||
| chr2:109857027 | C | T | 1 | a0004c0004t0015 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1131C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 1131 | chr2 | 109857027 | ||||||
| chr2:109857316 | T | C | 19 | a0001c0009t0003 a0002c0002t0003 a0002c0002t0017 others(16): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*1420T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 1420 | chr2 | 109857316 | ||||||
| chr2:109857339 | C | G | 1 | a0001c0001t0010 | 1 | HG00639.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1443C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 1443 | chr2 | 109857339 | ||||||
| chr2:109857632 | A | G | 2 | a0001c0001t0009 a0002c0002t0018 |
2 | HG01928.hp1 HG03471.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1736A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 1736 | chr2 | 109857632 | ||||||
| chr2:109857647 | A | G | 1 | a0003c0003t0016 | 1 | NA20805.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1751A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 23/23 | 1751 | chr2 | 109857647 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:109794571 | C | CGGCCCGG others(141): Show |
2 | a0001c0005t0001g0038 a0001c0005t0001g0039 |
2 | HG02723.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.72+35_72+36insGCCC others(144): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794571 | ||||||
| chr2:109794571 | C | CGGCCCGG others(153): Show |
1 | a0001c0009t0003g0040 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.72+35_72+36insGCCC others(156): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794571 | ||||||
| chr2:109794573 | A | ACCCGGCC others(217): Show |
1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.72+47_72+48insAGGG others(220): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(397): Show |
1 | a0001c0001t0010g0006 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(400): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(437): Show |
1 | a0017c0007t0005g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(440): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(420): Show |
1 | a0001c0001t0001g0008 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(423): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(277): Show |
1 | a0001c0001t0001g0010 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(280): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(428): Show |
1 | a0001c0001t0001g0011 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(431): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(308): Show |
1 | a0010c0019t0003g0012 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(311): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(435): Show |
1 | a0001c0001t0001g0014 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(438): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(406): Show |
1 | a0003c0003t0002g0015 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(409): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(486): Show |
1 | a0001c0011t0001g0016 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(489): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(465): Show |
1 | a0001c0001t0001g0017 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(468): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(480): Show |
1 | a0001c0001t0009g0018 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(483): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(436): Show |
1 | a0008c0010t0008g0021 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGGA others(439): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | ACCCGGCC others(173): Show |
1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.72+48_72+49insTGGG others(176): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794573 | ||||||
| chr2:109794573 | A | C | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.72+36A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794573 | |||||||
| chr2:109794583 | G | GGGGGGAG others(369): Show |
1 | a0007c0014t0003g0002 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(372): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794583 | ||||||
| chr2:109794583 | G | GGGGGGAG others(334): Show |
1 | a0002c0002t0017g0004 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(337): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794583 | ||||||
| chr2:109794583 | G | GGGGGGAG others(392): Show |
1 | a0002c0002t0003g0005 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(395): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794583 | ||||||
| chr2:109794583 | G | GGGGGGAG others(286): Show |
1 | a0002c0002t0018g0009 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(289): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794583 | ||||||
| chr2:109794583 | G | GGGGGGAG others(326): Show |
1 | a0002c0002t0003g0013 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(329): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794583 | ||||||
| chr2:109794583 | G | GGGGGGGA others(325): Show |
1 | a0009c0013t0002g0020 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGGA others(328): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794583 | ||||||
| chr2:109794583 | G | GGGGGGGG others(123): Show |
1 | a0014c0015t0006g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(126): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794583 | ||||||
| chr2:109794583 | G | GGGGGGGG others(254): Show |
1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(257): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794583 | ||||||
| chr2:109794584 | G | GGGGGAGG others(303): Show |
1 | a0002c0002t0003g0003 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(306): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGAGG others(255): Show |
1 | a0015c0017t0019g0019 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGAG others(258): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGA others(415): Show |
1 | a0003c0003t0002g0022 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(418): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGA others(403): Show |
1 | a0002c0002t0003g0023 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(406): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGA others(452): Show |
1 | a0006c0016t0002g0025 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(455): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGA others(409): Show |
1 | a0003c0003t0002g0026 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(412): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGA others(422): Show |
1 | a0005c0006t0004g0027 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(425): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGG others(484): Show |
1 | a0011c0020t0012g0029 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(487): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGG others(453): Show |
1 | a0003c0003t0016g0030 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(456): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGG others(333): Show |
1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(336): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGG others(75): Show |
1 | a0005c0006t0004g0033 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(78): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794584 | G | GGGGGGGG others(464): Show |
2 | a0004c0004t0013g0034 a0004c0004t0015g0035 |
2 | HG02615.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.72+49_72+50insGGGG others(467): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109794584 | ||||||
| chr2:109794586 | G | GGGGGAGG others(487): Show |
1 | a0003c0003t0002g0024 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(490): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794586 | |||||||
| chr2:109794586 | G | GGGGGGAG others(469): Show |
1 | a0004c0004t0014g0031 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.72+49_72+50insGGGG others(472): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794586 | |||||||
| chr2:109794587 | C | G | 8 | a0002c0002t0003g0005 a0002c0002t0003g0013 a0002c0002t0017g0004 others(5): Show |
8 | HG00140.hp2 HG00280.hp2 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.72+50C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794587 | |||||||
| chr2:109794589 | G | A | 10 | a0002c0002t0003g0023 a0003c0003t0002g0026 a0003c0003t0016g0030 others(7): Show |
10 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(7): Show |
intron_variant | MODIFIER | c.72+52G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794589 | |||||||
| chr2:109794603 | G | A | 1 | a0001c0009t0003g0040 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.72+66G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794603 | |||||||
| chr2:109794606 | G | C | 4 | a0003c0003t0002g0015 a0003c0003t0002g0024 a0004c0004t0014g0031 others(1): Show |
4 | HG02027.hp1 HG02027.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+69G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794606 | |||||||
| chr2:109794608 | C | CCG | 25 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0011t0001g0016 others(22): Show |
25 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(22): Show |
intron_variant | MODIFIER | c.72+71_72+72insCG | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794608 | |||||||
| chr2:109794608 | C | G | 4 | a0003c0003t0002g0015 a0003c0003t0002g0024 a0004c0004t0014g0031 others(1): Show |
4 | HG02027.hp1 HG02027.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.72+71C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794608 | |||||||
| chr2:109794610 | G | GCCTCGGC others(40): Show |
1 | a0001c0001t0001g0010 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.72+73_72+74insCCTC others(43): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794610 | |||||||
| chr2:109794639 | G | A | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.72+102G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794639 | |||||||
| chr2:109794774 | GGAGACCG others(14): Show |
G | 10 | a0002c0002t0003g0023 a0003c0003t0002g0022 a0003c0003t0002g0024 others(7): Show |
10 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(7): Show |
intron_variant | MODIFIER | c.72+238_72+258delGA others(19): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794774 | |||||||
| chr2:109794893 | A | G | 3 | a0004c0004t0013g0034 a0004c0004t0014g0031 a0004c0004t0015g0035 |
3 | HG02615.hp1 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.72+356A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109794893 | |||||||
| chr2:109795428 | T | TA | 29 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.72+904dupA | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109795428 | ||||||
| chr2:109795450 | G | A | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.72+913G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109795450 | |||||||
| chr2:109795459 | C | T | 1 | a0001c0011t0001g0016 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.72+922C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109795459 | |||||||
| chr2:109795531 | C | T | 1 | a0008c0010t0008g0021 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.72+994C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109795531 | |||||||
| chr2:109795952 | A | G | 1 | a0008c0010t0008g0021 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.72+1415A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109795952 | |||||||
| chr2:109796131 | C | G | 1 | a0003c0003t0002g0024 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.72+1594C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109796131 | |||||||
| chr2:109796225 | C | T | 3 | a0004c0004t0013g0034 a0004c0004t0014g0031 a0004c0004t0015g0035 |
3 | HG02615.hp1 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.72+1688C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109796225 | |||||||
| chr2:109796632 | A | ATTTTC | 2 | a0001c0005t0001g0038 a0001c0005t0001g0039 |
2 | HG02723.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.72+2115_72+2119dup others(5): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109796632 | ||||||
| chr2:109796652 | C | CT | 8 | a0002c0002t0003g0023 a0003c0003t0002g0022 a0003c0003t0002g0024 others(5): Show |
8 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(5): Show |
intron_variant | MODIFIER | c.72+2126dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109796652 | ||||||
| chr2:109796706 | C | T | 21 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(18): Show |
21 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(18): Show |
intron_variant | MODIFIER | c.72+2169C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109796706 | |||||||
| chr2:109797124 | G | GT | 3 | a0004c0004t0013g0034 a0004c0004t0014g0031 a0004c0004t0015g0035 |
3 | HG02615.hp1 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.72+2597dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109797124 | ||||||
| chr2:109797127 | T | G | 2 | a0012c0008t0007g0037 a0013c0012t0020g0036 |
2 | HG02280.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.72+2590T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109797127 | |||||||
| chr2:109797334 | G | C | 29 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(26): Show |
29 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(26): Show |
intron_variant | MODIFIER | c.72+2797G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109797334 | |||||||
| chr2:109797397 | T | C | 1 | a0001c0011t0001g0016 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.72+2860T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109797397 | |||||||
| chr2:109797547 | C | G | 18 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(15): Show |
18 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(15): Show |
intron_variant | MODIFIER | c.72+3010C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109797547 | |||||||
| chr2:109797947 | T | C | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.72+3410T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109797947 | |||||||
| chr2:109798083 | A | G | 34 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(31): Show |
34 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(31): Show |
intron_variant | MODIFIER | c.72+3546A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109798083 | |||||||
| chr2:109798377 | T | C | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.73-3406T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109798377 | |||||||
| chr2:109798597 | T | G | 3 | a0004c0004t0013g0034 a0004c0004t0014g0031 a0004c0004t0015g0035 |
3 | HG02615.hp1 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.73-3186T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109798597 | |||||||
| chr2:109798992 | G | A | 11 | a0002c0002t0003g0023 a0003c0003t0002g0022 a0003c0003t0002g0024 others(8): Show |
11 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(8): Show |
intron_variant | MODIFIER | c.73-2791G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109798992 | |||||||
| chr2:109799137 | A | G | 4 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(1): Show |
4 | HG02280.hp1 HG02723.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.73-2646A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109799137 | |||||||
| chr2:109799237 | CA | C | 4 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(1): Show |
4 | HG02280.hp1 HG02723.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.73-2528delA | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109799237 | ||||||
| chr2:109799334 | CT | C | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.73-2437delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109799334 | ||||||
| chr2:109799387 | G | A | 2 | a0001c0001t0001g0010 a0001c0001t0001g0011 |
2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.73-2396G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109799387 | |||||||
| chr2:109799882 | T | C | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.73-1901T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109799882 | |||||||
| chr2:109800309 | AT | A | 27 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.73-1459delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109800309 | ||||||
| chr2:109800436 | G | A | 1 | a0001c0009t0003g0040 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.73-1347G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109800436 | |||||||
| chr2:109800636 | T | G | 1 | a0007c0014t0003g0002 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.73-1147T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109800636 | |||||||
| chr2:109800763 | C | T | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.73-1020C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109800763 | |||||||
| chr2:109801060 | T | C | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.73-723T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109801060 | |||||||
| chr2:109801311 | TATG | T | 6 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(3): Show |
6 | HG00323.hp2 HG01884.hp1 HG01928.hp2 others(3): Show |
intron_variant | MODIFIER | c.73-432_73-430delAT others(1): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109801311 | ||||||
| chr2:109801311 | TATGATG | T | 13 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(10): Show |
13 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.73-435_73-430delAT others(4): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109801311 | ||||||
| chr2:109801756 | G | A | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.73-27G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | 109801756 | |||||||
| chr2:109801771 | A | AT | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
splice_acceptor_variant&intron_variant | HIGH | c.73-3dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | 109801771 | ||||||
| chr2:109802149 | A | G | 3 | a0005c0006t0004g0027 a0005c0006t0004g0033 a0018c0021t0002g0032 |
3 | HG03453.hp2 HG03471.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.140+299A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 2/22 | chr2 | 109802149 | |||||||
| chr2:109802369 | C | CT | 6 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(3): Show |
6 | HG01928.hp1 HG02280.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.140+534dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 109802369 | ||||||
| chr2:109802851 | C | T | 1 | a0011c0020t0012g0029 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.141-581C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 2/22 | chr2 | 109802851 | |||||||
| chr2:109803341 | T | C | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.141-91T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 2/22 | chr2 | 109803341 | |||||||
| chr2:109803575 | G | A | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.252+32G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 3/22 | chr2 | 109803575 | |||||||
| chr2:109803731 | C | T | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.252+188C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 3/22 | chr2 | 109803731 | |||||||
| chr2:109803776 | CAA | C | 2 | a0001c0001t0001g0010 a0001c0001t0001g0011 |
2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.253-201_253-200del others(2): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | 109803776 | ||||||
| chr2:109803882 | G | A | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.253-97G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 3/22 | chr2 | 109803882 | |||||||
| chr2:109805114 | T | C | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.405+983T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109805114 | |||||||
| chr2:109805294 | C | T | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.405+1163C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109805294 | |||||||
| chr2:109805426 | T | C | 1 | a0001c0001t0001g0017 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.405+1295T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109805426 | |||||||
| chr2:109805566 | G | A | 3 | a0004c0004t0013g0034 a0004c0004t0014g0031 a0004c0004t0015g0035 |
3 | HG02615.hp1 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.405+1435G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109805566 | |||||||
| chr2:109805643 | C | G | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.405+1512C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109805643 | |||||||
| chr2:109805893 | CT | C | 6 | a0001c0001t0001g0014 a0001c0005t0001g0038 a0001c0005t0001g0039 others(3): Show |
6 | HG01928.hp1 HG02280.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.405+1786delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 109805893 | ||||||
| chr2:109805893 | CTT | C | 24 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(21): Show |
24 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(21): Show |
intron_variant | MODIFIER | c.405+1785_405+1786d others(4): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 109805893 | ||||||
| chr2:109805893 | CTTTTTTT others(5): Show |
C | 2 | a0001c0001t0001g0010 a0001c0001t0001g0011 |
2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.405+1775_405+1786d others(14): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 109805893 | ||||||
| chr2:109805938 | T | C | 4 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(1): Show |
4 | HG02280.hp1 HG02723.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+1807T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109805938 | |||||||
| chr2:109806284 | C | G | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.406-1890C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109806284 | |||||||
| chr2:109806481 | AT | A | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.406-1680delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 109806481 | ||||||
| chr2:109807548 | A | G | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.406-626A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109807548 | |||||||
| chr2:109807575 | T | C | 3 | a0005c0006t0004g0027 a0005c0006t0004g0033 a0018c0021t0002g0032 |
3 | HG03453.hp2 HG03471.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.406-599T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109807575 | |||||||
| chr2:109807799 | A | G | 28 | a0001c0001t0001g0014 a0001c0001t0010g0006 a0002c0002t0003g0003 others(25): Show |
28 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(25): Show |
intron_variant | MODIFIER | c.406-375A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109807799 | |||||||
| chr2:109807950 | G | A | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.406-224G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 4/22 | chr2 | 109807950 | |||||||
| chr2:109809815 | C | T | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.782+920C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109809815 | |||||||
| chr2:109809835 | T | TTTAAGA | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.782+943_782+944ins others(6): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109809835 | ||||||
| chr2:109809970 | C | CT | 5 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0003c0003t0002g0015 others(2): Show |
5 | HG02280.hp1 HG02723.hp2 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.782+1098dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109809970 | ||||||
| chr2:109809970 | C | CTT | 9 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(6): Show |
intron_variant | MODIFIER | c.782+1097_782+1098d others(4): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109809970 | ||||||
| chr2:109809970 | CT | C | 3 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0017c0007t0005g0007 |
3 | HG01884.hp1 HG02615.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.782+1098delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109809970 | ||||||
| chr2:109809970 | CTTTT | C | 3 | a0002c0002t0003g0023 a0003c0003t0002g0024 a0011c0020t0012g0029 |
3 | HG00323.hp1 HG02027.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.782+1095_782+1098d others(6): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109809970 | ||||||
| chr2:109809970 | CTTTTT | C | 11 | a0003c0003t0002g0022 a0003c0003t0002g0026 a0003c0003t0016g0030 others(8): Show |
11 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.782+1094_782+1098d others(7): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109809970 | ||||||
| chr2:109810116 | G | A | 34 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(31): Show |
34 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(31): Show |
intron_variant | MODIFIER | c.782+1221G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109810116 | |||||||
| chr2:109810189 | C | CT | 11 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(8): Show |
11 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(8): Show |
intron_variant | MODIFIER | c.782+1306dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109810189 | ||||||
| chr2:109810378 | T | C | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.782+1483T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109810378 | |||||||
| chr2:109810812 | ACTAC | A | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.782+1922_782+1925d others(6): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109810812 | ||||||
| chr2:109810837 | G | A | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.782+1942G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109810837 | |||||||
| chr2:109811050 | CTT | C | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.782+2167_782+2168d others(4): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109811050 | ||||||
| chr2:109811114 | C | T | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.782+2219C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109811114 | |||||||
| chr2:109811350 | C | T | 1 | a0009c0013t0002g0020 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.783-2110C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109811350 | |||||||
| chr2:109811588 | C | CT | 14 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(11): Show |
14 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(11): Show |
intron_variant | MODIFIER | c.783-1854dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109811588 | ||||||
| chr2:109811588 | C | CTT | 11 | a0003c0003t0002g0022 a0003c0003t0002g0024 a0003c0003t0002g0026 others(8): Show |
11 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.783-1855_783-1854d others(4): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109811588 | ||||||
| chr2:109811630 | C | T | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.783-1830C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109811630 | |||||||
| chr2:109811792 | T | C | 11 | a0002c0002t0003g0023 a0003c0003t0002g0022 a0003c0003t0002g0024 others(8): Show |
11 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(8): Show |
intron_variant | MODIFIER | c.783-1668T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109811792 | |||||||
| chr2:109812086 | G | A | 4 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(1): Show |
4 | HG02280.hp1 HG02723.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.783-1374G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109812086 | |||||||
| chr2:109812632 | A | G | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.783-828A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109812632 | |||||||
| chr2:109812727 | G | C | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.783-733G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109812727 | |||||||
| chr2:109812732 | G | T | 1 | a0003c0003t0002g0022 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.783-728G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109812732 | |||||||
| chr2:109812948 | C | CA | 10 | a0002c0002t0003g0003 a0002c0002t0003g0013 a0002c0002t0017g0004 others(7): Show |
10 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(7): Show |
intron_variant | MODIFIER | c.783-496dupA | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109812948 | ||||||
| chr2:109812948 | C | CAA | 4 | a0002c0002t0003g0005 a0003c0003t0002g0015 a0003c0003t0002g0024 others(1): Show |
4 | HG02027.hp1 HG02027.hp2 NA18943.hp1 others(1): Show |
intron_variant | MODIFIER | c.783-497_783-496dup others(2): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 109812948 | ||||||
| chr2:109813203 | T | C | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.783-257T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 6/22 | chr2 | 109813203 | |||||||
| chr2:109814188 | A | AT | 4 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(1): Show |
4 | HG02280.hp1 HG02723.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.978+541dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109814188 | ||||||
| chr2:109814302 | C | T | 1 | a0001c0001t0001g0008 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.978+647C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109814302 | |||||||
| chr2:109814327 | G | C | 1 | a0014c0015t0006g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.978+672G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109814327 | |||||||
| chr2:109814396 | C | G | 8 | a0002c0002t0003g0023 a0003c0003t0002g0022 a0003c0003t0002g0024 others(5): Show |
8 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(5): Show |
intron_variant | MODIFIER | c.978+741C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109814396 | |||||||
| chr2:109814484 | C | CT | 4 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0009g0018 others(1): Show |
4 | HG03225.hp2 HG03471.hp2 NA18943.hp2 others(1): Show |
intron_variant | MODIFIER | c.978+855dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109814484 | ||||||
| chr2:109814484 | C | CTT | 6 | a0002c0002t0003g0023 a0005c0006t0004g0033 a0006c0016t0002g0025 others(3): Show |
6 | HG00140.hp1 HG00323.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.978+854_978+855dup others(2): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109814484 | ||||||
| chr2:109814484 | C | CTTT | 5 | a0003c0003t0002g0022 a0003c0003t0002g0026 a0003c0003t0016g0030 others(2): Show |
5 | HG00280.hp1 HG02080.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.978+853_978+855dup others(3): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109814484 | ||||||
| chr2:109814484 | CT | C | 13 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(10): Show |
13 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.978+855delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109814484 | ||||||
| chr2:109814795 | C | CT | 18 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(15): Show |
18 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(15): Show |
intron_variant | MODIFIER | c.978+1161dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109814795 | ||||||
| chr2:109814858 | T | C | 27 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.978+1203T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109814858 | |||||||
| chr2:109814932 | G | A | 27 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.978+1277G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109814932 | |||||||
| chr2:109814938 | A | AG | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.978+1284dupG | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109814938 | ||||||
| chr2:109814938 | A | G | 4 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(1): Show |
4 | HG02280.hp1 HG02723.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.978+1283A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109814938 | |||||||
| chr2:109814978 | A | C | 1 | a0014c0015t0006g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.978+1323A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109814978 | |||||||
| chr2:109815000 | G | A | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.978+1345G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815000 | |||||||
| chr2:109815125 | T | C | 27 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.978+1470T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815125 | |||||||
| chr2:109815167 | A | G | 27 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.978+1512A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815167 | |||||||
| chr2:109815175 | T | C | 31 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(28): Show |
31 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(28): Show |
intron_variant | MODIFIER | c.978+1520T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815175 | |||||||
| chr2:109815311 | G | T | 8 | a0002c0002t0003g0023 a0003c0003t0002g0022 a0003c0003t0002g0024 others(5): Show |
8 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(5): Show |
intron_variant | MODIFIER | c.978+1656G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815311 | |||||||
| chr2:109815326 | A | C | 1 | a0014c0015t0006g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.978+1671A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815326 | |||||||
| chr2:109815394 | T | C | 27 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.978+1739T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815394 | |||||||
| chr2:109815438 | C | T | 1 | a0002c0002t0003g0003 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.978+1783C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815438 | |||||||
| chr2:109815452 | T | C | 27 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.978+1797T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815452 | |||||||
| chr2:109815531 | G | A | 27 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.978+1876G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815531 | |||||||
| chr2:109815552 | G | A | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.978+1897G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815552 | |||||||
| chr2:109815635 | A | G | 1 | a0007c0014t0003g0002 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.978+1980A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815635 | |||||||
| chr2:109815781 | T | A | 1 | a0003c0003t0002g0024 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.978+2126T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815781 | |||||||
| chr2:109815782 | A | T | 1 | a0003c0003t0002g0024 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.978+2127A>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815782 | |||||||
| chr2:109815930 | C | T | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.978+2275C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815930 | |||||||
| chr2:109815934 | T | C | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.978+2279T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815934 | |||||||
| chr2:109815935 | G | A | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.978+2280G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815935 | |||||||
| chr2:109815976 | G | A | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.978+2321G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815976 | |||||||
| chr2:109815986 | G | A | 1 | a0002c0002t0018g0009 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.978+2331G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109815986 | |||||||
| chr2:109816252 | C | A | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.978+2597C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109816252 | |||||||
| chr2:109816326 | A | G | 1 | a0002c0002t0003g0013 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.978+2671A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109816326 | |||||||
| chr2:109816383 | C | T | 9 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(6): Show |
intron_variant | MODIFIER | c.978+2728C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109816383 | |||||||
| chr2:109816467 | G | C | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.978+2812G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109816467 | |||||||
| chr2:109816720 | A | T | 1 | a0002c0002t0018g0009 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.979-2976A>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109816720 | |||||||
| chr2:109817154 | C | T | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.979-2542C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109817154 | |||||||
| chr2:109817226 | G | C | 24 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(21): Show |
24 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(21): Show |
intron_variant | MODIFIER | c.979-2470G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109817226 | |||||||
| chr2:109817230 | C | A | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.979-2466C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109817230 | |||||||
| chr2:109817377 | G | A | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.979-2319G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109817377 | |||||||
| chr2:109817391 | CA | C | 26 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.979-2290delA | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109817391 | ||||||
| chr2:109817407 | G | T | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.979-2289G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109817407 | |||||||
| chr2:109818118 | T | C | 10 | a0002c0002t0003g0023 a0003c0003t0002g0022 a0003c0003t0002g0024 others(7): Show |
10 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(7): Show |
intron_variant | MODIFIER | c.979-1578T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109818118 | |||||||
| chr2:109818314 | ATATAGTT others(30): Show |
A | 1 | a0003c0003t0002g0015 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.979-1380_979-1344d others(39): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109818314 | ||||||
| chr2:109818548 | C | T | 1 | a0002c0002t0003g0013 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.979-1148C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109818548 | |||||||
| chr2:109818560 | G | A | 1 | a0003c0003t0016g0030 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.979-1136G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109818560 | |||||||
| chr2:109818644 | T | C | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.979-1052T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109818644 | |||||||
| chr2:109818735 | G | A | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.979-961G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109818735 | |||||||
| chr2:109818884 | CT | C | 14 | a0002c0002t0003g0003 a0002c0002t0003g0013 a0002c0002t0003g0023 others(11): Show |
14 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(11): Show |
intron_variant | MODIFIER | c.979-797delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109818884 | ||||||
| chr2:109818929 | C | T | 1 | a0003c0003t0016g0030 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.979-767C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109818929 | |||||||
| chr2:109819068 | A | C | 1 | a0002c0002t0018g0009 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.979-628A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109819068 | |||||||
| chr2:109819069 | C | T | 1 | a0002c0002t0018g0009 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.979-627C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109819069 | |||||||
| chr2:109819191 | C | T | 24 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(21): Show |
24 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(21): Show |
intron_variant | MODIFIER | c.979-505C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109819191 | |||||||
| chr2:109819196 | C | CTTT | 8 | a0002c0002t0003g0023 a0003c0003t0002g0026 a0003c0003t0016g0030 others(5): Show |
8 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(5): Show |
intron_variant | MODIFIER | c.979-484_979-482dup others(3): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109819196 | ||||||
| chr2:109819196 | C | CTTTT | 7 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0003c0003t0002g0024 others(4): Show |
7 | HG00639.hp1 HG02027.hp1 HG02080.hp2 others(4): Show |
intron_variant | MODIFIER | c.979-485_979-482dup others(4): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109819196 | ||||||
| chr2:109819196 | C | CTTTTT | 5 | a0002c0002t0017g0004 a0003c0003t0002g0015 a0007c0014t0003g0002 others(2): Show |
5 | HG00140.hp2 HG00280.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.979-486_979-482dup others(5): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109819196 | ||||||
| chr2:109819334 | T | A | 1 | a0002c0002t0018g0009 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.979-362T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109819334 | |||||||
| chr2:109819367 | G | GT | 10 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(7): Show |
10 | HG00280.hp2 HG00323.hp1 HG00639.hp1 others(7): Show |
intron_variant | MODIFIER | c.979-318dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 109819367 | ||||||
| chr2:109819685 | A | G | 8 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(5): Show |
8 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(5): Show |
intron_variant | MODIFIER | c.979-11A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 7/22 | chr2 | 109819685 | |||||||
| chr2:109819868 | C | T | 24 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(21): Show |
24 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(21): Show |
intron_variant | MODIFIER | c.1066+85C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109819868 | |||||||
| chr2:109820203 | A | G | 1 | a0004c0004t0015g0035 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1066+420A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109820203 | |||||||
| chr2:109820569 | CT | C | 14 | a0002c0002t0003g0023 a0003c0003t0002g0022 a0003c0003t0002g0024 others(11): Show |
14 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(11): Show |
intron_variant | MODIFIER | c.1066+790delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 109820569 | ||||||
| chr2:109820679 | T | C | 2 | a0001c0001t0001g0017 a0016c0018t0011g0001 |
2 | HG02717.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1066+896T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109820679 | |||||||
| chr2:109820805 | C | T | 1 | a0001c0001t0001g0017 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1066+1022C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109820805 | |||||||
| chr2:109820848 | C | G | 27 | a0001c0001t0001g0017 a0002c0002t0003g0003 a0002c0002t0003g0005 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.1067-1057C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109820848 | |||||||
| chr2:109820974 | C | T | 12 | a0002c0002t0003g0023 a0003c0003t0002g0015 a0003c0003t0002g0022 others(9): Show |
12 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(9): Show |
intron_variant | MODIFIER | c.1067-931C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109820974 | |||||||
| chr2:109821061 | G | C | 24 | a0001c0001t0001g0017 a0002c0002t0003g0003 a0002c0002t0003g0005 others(21): Show |
24 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(21): Show |
intron_variant | MODIFIER | c.1067-844G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109821061 | |||||||
| chr2:109821094 | G | A | 31 | a0001c0001t0001g0017 a0001c0005t0001g0038 a0001c0005t0001g0039 others(28): Show |
31 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(28): Show |
intron_variant | MODIFIER | c.1067-811G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109821094 | |||||||
| chr2:109821194 | C | CT | 4 | a0003c0003t0002g0015 a0003c0003t0002g0026 a0011c0020t0012g0029 others(1): Show |
4 | HG00280.hp1 HG02080.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.1067-693dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 109821194 | ||||||
| chr2:109821194 | CT | C | 3 | a0003c0003t0002g0022 a0006c0016t0002g0025 a0014c0015t0006g0028 |
3 | HG00140.hp1 HG02717.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.1067-693delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 109821194 | ||||||
| chr2:109821237 | C | G | 3 | a0004c0004t0013g0034 a0004c0004t0014g0031 a0004c0004t0015g0035 |
3 | HG02615.hp1 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1067-668C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109821237 | |||||||
| chr2:109821362 | A | AT | 13 | a0001c0001t0001g0008 a0002c0002t0003g0003 a0002c0002t0003g0005 others(10): Show |
13 | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.1067-526dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 109821362 | ||||||
| chr2:109821799 | T | C | 27 | a0001c0001t0001g0017 a0002c0002t0003g0003 a0002c0002t0003g0005 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.1067-106T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 8/22 | chr2 | 109821799 | |||||||
| chr2:109822282 | G | T | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1276+168G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109822282 | |||||||
| chr2:109822379 | T | A | 1 | a0014c0015t0006g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1276+265T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109822379 | |||||||
| chr2:109823058 | C | T | 1 | a0001c0001t0001g0017 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1276+944C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109823058 | |||||||
| chr2:109823144 | A | G | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1276+1030A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109823144 | |||||||
| chr2:109823145 | G | T | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1276+1031G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109823145 | |||||||
| chr2:109823546 | C | CCTTTT | 4 | a0001c0001t0001g0011 a0001c0011t0001g0016 a0012c0008t0007g0037 others(1): Show |
4 | HG00323.hp2 HG02280.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277-652_1277-648d others(7): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(95): Show |
1 | a0003c0003t0016g0030 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1277-659_1277-658i others(104): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(13): Show |
2 | a0001c0001t0001g0010 a0001c0001t0001g0014 |
2 | HG01884.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.1277-667_1277-648d others(22): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(22): Show |
1 | a0002c0002t0018g0009 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1277-652_1277-651i others(31): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(18): Show |
6 | a0001c0001t0001g0008 a0002c0002t0003g0005 a0002c0002t0003g0023 others(3): Show |
6 | HG00140.hp2 HG00323.hp1 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.1277-672_1277-648d others(27): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(23): Show |
2 | a0001c0001t0010g0006 a0002c0002t0003g0013 |
2 | HG00639.hp2 HG02080.hp1 |
intron_variant | MODIFIER | c.1277-648_1277-647i others(32): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(85): Show |
1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1277-648_1277-647i others(94): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(110): Show |
1 | a0006c0016t0002g0025 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1277-648_1277-647i others(119): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(28): Show |
1 | a0001c0005t0001g0038 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1277-648_1277-647i others(37): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(140): Show |
1 | a0003c0003t0002g0022 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1277-648_1277-647i others(149): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(168): Show |
1 | a0003c0003t0002g0026 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1277-648_1277-647i others(177): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(33): Show |
1 | a0014c0015t0006g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1277-648_1277-647i others(42): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(115): Show |
1 | a0005c0006t0004g0027 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1277-648_1277-647i others(124): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(100): Show |
1 | a0005c0006t0004g0033 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1277-648_1277-647i others(109): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(185): Show |
1 | a0003c0003t0002g0024 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1277-648_1277-647i others(194): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(43): Show |
3 | a0001c0005t0001g0039 a0001c0009t0003g0040 a0002c0002t0003g0003 |
3 | HG00639.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1277-648_1277-647i others(52): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(48): Show |
2 | a0004c0004t0013g0034 a0004c0004t0014g0031 |
2 | HG02615.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1277-648_1277-647i others(57): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823546 | C | CCTTTTCT others(58): Show |
1 | a0004c0004t0015g0035 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1277-648_1277-647i others(67): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823546 | ||||||
| chr2:109823553 | T | TTTCTTTT others(15): Show |
1 | a0002c0002t0017g0004 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1277-667_1277-666i others(24): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823553 | ||||||
| chr2:109823563 | T | TTTTCTTT others(150): Show |
1 | a0009c0013t0002g0020 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.1277-648_1277-647i others(159): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823563 | ||||||
| chr2:109823564 | T | TTTCTTTT others(182): Show |
1 | a0003c0003t0002g0015 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1277-648_1277-647i others(191): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823564 | ||||||
| chr2:109823570 | T | TTCTTTTC others(172): Show |
1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1277-648_1277-647i others(181): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823570 | ||||||
| chr2:109823593 | C | T | 9 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(6): Show |
9 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(6): Show |
intron_variant | MODIFIER | c.1277-629C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109823593 | |||||||
| chr2:109823594 | G | A | 10 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(7): Show |
10 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(7): Show |
intron_variant | MODIFIER | c.1277-628G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109823594 | |||||||
| chr2:109823712 | AT | A | 2 | a0002c0002t0003g0023 a0002c0002t0017g0004 |
2 | HG00280.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.1277-504delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823712 | ||||||
| chr2:109823784 | T | G | 24 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(21): Show |
24 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(21): Show |
intron_variant | MODIFIER | c.1277-438T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109823784 | |||||||
| chr2:109823788 | A | C | 24 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(21): Show |
24 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(21): Show |
intron_variant | MODIFIER | c.1277-434A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109823788 | |||||||
| chr2:109823975 | AT | A | 2 | a0012c0008t0007g0037 a0018c0021t0002g0032 |
2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1277-241delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 109823975 | ||||||
| chr2:109824065 | C | G | 27 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.1277-157C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 9/22 | chr2 | 109824065 | |||||||
| chr2:109824993 | T | A | 1 | a0003c0003t0002g0015 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1758+40T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 12/22 | chr2 | 109824993 | |||||||
| chr2:109824995 | A | T | 1 | a0003c0003t0002g0015 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1758+42A>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 12/22 | chr2 | 109824995 | |||||||
| chr2:109824997 | T | A | 1 | a0003c0003t0002g0015 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1758+44T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 12/22 | chr2 | 109824997 | |||||||
| chr2:109825017 | T | C | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1758+64T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 12/22 | chr2 | 109825017 | |||||||
| chr2:109825262 | A | G | 1 | a0015c0017t0019g0019 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1758+309A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 12/22 | chr2 | 109825262 | |||||||
| chr2:109825459 | G | A | 1 | a0005c0006t0004g0033 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1759-417G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 12/22 | chr2 | 109825459 | |||||||
| chr2:109825480 | C | T | 1 | a0015c0017t0019g0019 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1759-396C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 12/22 | chr2 | 109825480 | |||||||
| chr2:109826035 | G | T | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | splice_donor_variant&intron_variant | HIGH | c.1917+1G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/22 | chr2 | 109826035 | |||||||
| chr2:109826037 | A | T | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | splice_region_variant&intron_variant | LOW | c.1917+3A>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/22 | chr2 | 109826037 | |||||||
| chr2:109826039 | C | T | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | splice_region_variant&intron_variant | LOW | c.1917+5C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/22 | chr2 | 109826039 | |||||||
| chr2:109826041 | G | T | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | splice_region_variant&intron_variant | LOW | c.1917+7G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/22 | chr2 | 109826041 | |||||||
| chr2:109826047 | CT | C | 8 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(5): Show |
8 | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(5): Show |
intron_variant | MODIFIER | c.1917+16delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 109826047 | ||||||
| chr2:109826051 | A | T | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1917+17A>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/22 | chr2 | 109826051 | |||||||
| chr2:109826053 | G | T | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1917+19G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/22 | chr2 | 109826053 | |||||||
| chr2:109826054 | A | T | 1 | a0018c0021t0002g0032 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1917+20A>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 13/22 | chr2 | 109826054 | |||||||
| chr2:109826537 | G | C | 1 | a0002c0002t0003g0005 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2055+99G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 14/22 | chr2 | 109826537 | |||||||
| chr2:109826687 | C | A | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2056-14C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 14/22 | chr2 | 109826687 | |||||||
| chr2:109826977 | C | T | 1 | a0001c0001t0001g0014 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.2202+130C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 15/22 | chr2 | 109826977 | |||||||
| chr2:109827466 | A | C | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2203-326A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 15/22 | chr2 | 109827466 | |||||||
| chr2:109827631 | A | C | 1 | a0005c0006t0004g0027 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2203-161A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 15/22 | chr2 | 109827631 | |||||||
| chr2:109828167 | C | T | 1 | a0001c0001t0001g0010 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2466+19C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109828167 | |||||||
| chr2:109828282 | C | CTT | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.2466+149_2466+150d others(4): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | 109828282 | ||||||
| chr2:109829570 | A | G | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.2466+1422A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109829570 | |||||||
| chr2:109829850 | C | T | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.2467-1467C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109829850 | |||||||
| chr2:109829899 | A | C | 11 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(8): Show |
11 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(8): Show |
intron_variant | MODIFIER | c.2467-1418A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109829899 | |||||||
| chr2:109829912 | A | C | 13 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(10): Show |
13 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(10): Show |
intron_variant | MODIFIER | c.2467-1405A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109829912 | |||||||
| chr2:109829959 | C | A | 15 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(12): Show |
15 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(12): Show |
intron_variant | MODIFIER | c.2467-1358C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109829959 | |||||||
| chr2:109830191 | A | G | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.2467-1126A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109830191 | |||||||
| chr2:109830288 | T | G | 14 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(11): Show |
14 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(11): Show |
intron_variant | MODIFIER | c.2467-1029T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109830288 | |||||||
| chr2:109830374 | G | A | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.2467-943G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109830374 | |||||||
| chr2:109830565 | G | A | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.2467-752G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 17/22 | chr2 | 109830565 | |||||||
| chr2:109831663 | T | A | 2 | a0003c0003t0002g0015 a0003c0003t0002g0024 |
2 | HG02027.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.2602+211T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109831663 | |||||||
| chr2:109831748 | A | G | 3 | a0004c0004t0013g0034 a0004c0004t0014g0031 a0004c0004t0015g0035 |
3 | HG02615.hp1 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2602+296A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109831748 | |||||||
| chr2:109832280 | A | G | 8 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(5): Show |
8 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(5): Show |
intron_variant | MODIFIER | c.2602+828A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109832280 | |||||||
| chr2:109832405 | T | TC | 3 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0008c0010t0008g0021 |
3 | HG01884.hp1 HG01884.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.2602+954dupC | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | 109832405 | ||||||
| chr2:109832854 | C | G | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2602+1402C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109832854 | |||||||
| chr2:109833077 | G | A | 1 | a0005c0006t0004g0033 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2602+1625G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109833077 | |||||||
| chr2:109833130 | C | T | 12 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(9): Show |
12 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(9): Show |
intron_variant | MODIFIER | c.2602+1678C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109833130 | |||||||
| chr2:109833755 | G | A | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2603-1242G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109833755 | |||||||
| chr2:109834388 | C | G | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2603-609C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109834388 | |||||||
| chr2:109834726 | A | T | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2603-271A>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109834726 | |||||||
| chr2:109834754 | C | T | 1 | a0005c0006t0004g0027 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2603-243C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109834754 | |||||||
| chr2:109834894 | C | A | 1 | a0001c0001t0001g0008 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.2603-103C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109834894 | |||||||
| chr2:109834904 | C | T | 15 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(12): Show |
15 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(12): Show |
intron_variant | MODIFIER | c.2603-93C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | chr2 | 109834904 | |||||||
| chr2:109834972 | T | TTTTC | 14 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(11): Show |
14 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(11): Show |
intron_variant | MODIFIER | c.2603-21_2603-18dup others(4): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | 109834972 | ||||||
| chr2:109834981 | C | CT | 14 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(11): Show |
14 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(11): Show |
splice_region_variant&intron_variant | LOW | c.2603-4dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | 109834981 | ||||||
| chr2:109835435 | C | T | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2697+344C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 19/22 | chr2 | 109835435 | |||||||
| chr2:109835592 | C | A | 15 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(12): Show |
15 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(12): Show |
intron_variant | MODIFIER | c.2698-227C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 19/22 | chr2 | 109835592 | |||||||
| chr2:109835601 | A | G | 11 | a0001c0001t0001g0011 a0002c0002t0003g0003 a0002c0002t0003g0005 others(8): Show |
11 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(8): Show |
intron_variant | MODIFIER | c.2698-218A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 19/22 | chr2 | 109835601 | |||||||
| chr2:109835692 | TATC | T | 14 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(11): Show |
14 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(11): Show |
intron_variant | MODIFIER | c.2698-109_2698-107d others(5): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 109835692 | ||||||
| chr2:109835713 | T | C | 2 | a0003c0003t0002g0015 a0003c0003t0002g0024 |
2 | HG02027.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.2698-106T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 19/22 | chr2 | 109835713 | |||||||
| chr2:109838694 | AAAAAAAC | A | 17 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(14): Show |
17 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(14): Show |
intron_variant | MODIFIER | c.4921+673_4921+679d others(9): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | 109838694 | ||||||
| chr2:109838895 | C | A | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.4921+853C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109838895 | |||||||
| chr2:109839387 | T | C | 1 | a0005c0006t0004g0027 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4921+1345T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109839387 | |||||||
| chr2:109839673 | T | TTAA | 10 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(7): Show |
10 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(7): Show |
intron_variant | MODIFIER | c.4921+1633_4921+163 others(7): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | 109839673 | ||||||
| chr2:109840162 | G | T | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.4921+2120G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109840162 | |||||||
| chr2:109840396 | T | C | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.4921+2354T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109840396 | |||||||
| chr2:109840447 | T | C | 1 | a0015c0017t0019g0019 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.4921+2405T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109840447 | |||||||
| chr2:109840703 | A | G | 1 | a0005c0006t0004g0027 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4921+2661A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109840703 | |||||||
| chr2:109840759 | C | T | 1 | a0002c0002t0018g0009 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.4921+2717C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109840759 | |||||||
| chr2:109840826 | A | G | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.4921+2784A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109840826 | |||||||
| chr2:109840987 | T | A | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.4921+2945T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109840987 | |||||||
| chr2:109841120 | TGTA | T | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.4921+3082_4921+308 others(7): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | 109841120 | ||||||
| chr2:109841272 | A | G | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.4921+3230A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109841272 | |||||||
| chr2:109841328 | T | A | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.4921+3286T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109841328 | |||||||
| chr2:109841383 | C | T | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.4921+3341C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109841383 | |||||||
| chr2:109841545 | G | A | 1 | a0001c0001t0001g0014 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.4921+3503G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109841545 | |||||||
| chr2:109841573 | C | T | 8 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(5): Show |
8 | HG00280.hp2 HG00323.hp1 HG00639.hp1 others(5): Show |
intron_variant | MODIFIER | c.4922-3530C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109841573 | |||||||
| chr2:109842002 | G | C | 3 | a0005c0006t0004g0027 a0005c0006t0004g0033 a0018c0021t0002g0032 |
3 | HG03453.hp2 HG03471.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4922-3101G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842002 | |||||||
| chr2:109842116 | T | C | 16 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(13): Show |
16 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(13): Show |
intron_variant | MODIFIER | c.4922-2987T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842116 | |||||||
| chr2:109842164 | C | T | 4 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(1): Show |
4 | HG02723.hp2 HG03209.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4922-2939C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842164 | |||||||
| chr2:109842282 | A | G | 16 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(13): Show |
16 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(13): Show |
intron_variant | MODIFIER | c.4922-2821A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842282 | |||||||
| chr2:109842287 | T | G | 16 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(13): Show |
16 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(13): Show |
intron_variant | MODIFIER | c.4922-2816T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842287 | |||||||
| chr2:109842330 | A | G | 16 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(13): Show |
16 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(13): Show |
intron_variant | MODIFIER | c.4922-2773A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842330 | |||||||
| chr2:109842605 | C | T | 1 | a0001c0001t0001g0014 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.4922-2498C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842605 | |||||||
| chr2:109842762 | T | G | 1 | a0003c0003t0016g0030 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.4922-2341T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842762 | |||||||
| chr2:109842768 | A | G | 1 | a0009c0013t0002g0020 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.4922-2335A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842768 | |||||||
| chr2:109842870 | A | G | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.4922-2233A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109842870 | |||||||
| chr2:109842946 | G | GT | 4 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(1): Show |
4 | HG02280.hp1 HG02723.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.4922-2148dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | 109842946 | ||||||
| chr2:109843106 | T | C | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.4922-1997T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109843106 | |||||||
| chr2:109843111 | C | G | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.4922-1992C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109843111 | |||||||
| chr2:109843125 | T | C | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.4922-1978T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109843125 | |||||||
| chr2:109843513 | A | G | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.4922-1590A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109843513 | |||||||
| chr2:109843590 | C | T | 28 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(25): Show |
28 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(25): Show |
intron_variant | MODIFIER | c.4922-1513C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109843590 | |||||||
| chr2:109843601 | T | C | 1 | a0003c0003t0016g0030 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.4922-1502T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109843601 | |||||||
| chr2:109843877 | T | C | 33 | a0001c0001t0001g0014 a0001c0001t0010g0006 a0001c0005t0001g0038 others(30): Show |
33 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(30): Show |
intron_variant | MODIFIER | c.4922-1226T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109843877 | |||||||
| chr2:109843944 | G | A | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.4922-1159G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109843944 | |||||||
| chr2:109844125 | C | CA | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.4922-978_4922-977i others(3): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109844125 | |||||||
| chr2:109844137 | T | C | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.4922-966T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109844137 | |||||||
| chr2:109844158 | G | A | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.4922-945G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109844158 | |||||||
| chr2:109844465 | T | C | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.4922-638T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109844465 | |||||||
| chr2:109844580 | C | T | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.4922-523C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109844580 | |||||||
| chr2:109844655 | C | T | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.4922-448C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109844655 | |||||||
| chr2:109844704 | C | T | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.4922-399C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109844704 | |||||||
| chr2:109844726 | A | C | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.4922-377A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109844726 | |||||||
| chr2:109844814 | A | T | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.4922-289A>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 20/22 | chr2 | 109844814 | |||||||
| chr2:109845302 | C | T | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.5061+60C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109845302 | |||||||
| chr2:109845340 | GC | G | 8 | a0002c0002t0003g0005 a0002c0002t0003g0013 a0002c0002t0003g0023 others(5): Show |
8 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(5): Show |
intron_variant | MODIFIER | c.5061+99delC | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109845340 | |||||||
| chr2:109845394 | C | CTTTTTTT | 10 | a0003c0003t0002g0026 a0003c0003t0016g0030 a0004c0004t0013g0034 others(7): Show |
10 | HG00140.hp1 HG00280.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.5061+162_5061+168d others(9): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 109845394 | ||||||
| chr2:109845394 | C | CTTTTTTT others(1): Show |
14 | a0001c0005t0001g0038 a0001c0009t0003g0040 a0002c0002t0003g0003 others(11): Show |
14 | HG00280.hp2 HG00323.hp1 HG00639.hp1 others(11): Show |
intron_variant | MODIFIER | c.5061+161_5061+168d others(10): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 109845394 | ||||||
| chr2:109845394 | C | CTTTTTTT others(2): Show |
3 | a0001c0005t0001g0039 a0007c0014t0003g0002 a0010c0019t0003g0012 |
3 | HG00140.hp2 HG02027.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.5061+160_5061+168d others(11): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 109845394 | ||||||
| chr2:109845394 | C | CTTTTTTT others(4): Show |
1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5061+158_5061+168d others(13): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 109845394 | ||||||
| chr2:109845561 | C | A | 14 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(11): Show |
14 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(11): Show |
intron_variant | MODIFIER | c.5061+319C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109845561 | |||||||
| chr2:109845566 | C | T | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.5061+324C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109845566 | |||||||
| chr2:109845728 | C | G | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.5061+486C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109845728 | |||||||
| chr2:109845747 | A | G | 28 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(25): Show |
28 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(25): Show |
intron_variant | MODIFIER | c.5061+505A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109845747 | |||||||
| chr2:109845905 | T | C | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.5061+663T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109845905 | |||||||
| chr2:109846105 | G | A | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.5061+863G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109846105 | |||||||
| chr2:109846453 | C | CT | 21 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(18): Show |
21 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(18): Show |
intron_variant | MODIFIER | c.5061+1228dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 109846453 | ||||||
| chr2:109846453 | C | CTT | 3 | a0003c0003t0002g0024 a0003c0003t0002g0026 a0018c0021t0002g0032 |
3 | HG00280.hp1 HG02027.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.5061+1227_5061+122 others(6): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 109846453 | ||||||
| chr2:109846453 | C | CTTT | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.5061+1226_5061+122 others(7): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 109846453 | ||||||
| chr2:109846457 | T | C | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5061+1215T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109846457 | |||||||
| chr2:109846475 | C | T | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.5061+1233C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109846475 | |||||||
| chr2:109846772 | G | A | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.5062-1038G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109846772 | |||||||
| chr2:109846797 | T | G | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5062-1013T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109846797 | |||||||
| chr2:109846953 | G | T | 20 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(17): Show |
20 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(17): Show |
intron_variant | MODIFIER | c.5062-857G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109846953 | |||||||
| chr2:109847393 | T | C | 3 | a0004c0004t0013g0034 a0004c0004t0014g0031 a0004c0004t0015g0035 |
3 | HG02615.hp1 HG03209.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.5062-417T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109847393 | |||||||
| chr2:109847485 | C | T | 1 | a0014c0015t0006g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5062-325C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109847485 | |||||||
| chr2:109847528 | G | T | 27 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.5062-282G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109847528 | |||||||
| chr2:109847623 | T | C | 2 | a0013c0012t0020g0036 a0016c0018t0011g0001 |
2 | HG02280.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.5062-187T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 21/22 | chr2 | 109847623 | |||||||
| chr2:109848186 | C | T | 1 | a0001c0011t0001g0016 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.5263+175C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109848186 | |||||||
| chr2:109848276 | C | G | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5263+265C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109848276 | |||||||
| chr2:109848280 | G | T | 29 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(26): Show |
29 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show |
intron_variant | MODIFIER | c.5263+269G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109848280 | |||||||
| chr2:109848387 | A | G | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.5263+376A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109848387 | |||||||
| chr2:109848628 | C | T | 1 | a0002c0002t0003g0013 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.5263+617C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109848628 | |||||||
| chr2:109848643 | C | T | 2 | a0002c0002t0003g0005 a0002c0002t0003g0023 |
2 | HG00323.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.5263+632C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109848643 | |||||||
| chr2:109848763 | CA | C | 30 | a0001c0001t0001g0010 a0001c0005t0001g0038 a0001c0005t0001g0039 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.5263+764delA | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109848763 | ||||||
| chr2:109849195 | C | T | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5263+1184C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109849195 | |||||||
| chr2:109849385 | C | T | 26 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0013 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.5263+1374C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109849385 | |||||||
| chr2:109849476 | C | T | 1 | a0014c0015t0006g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5263+1465C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109849476 | |||||||
| chr2:109850520 | G | T | 11 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(8): Show |
11 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(8): Show |
intron_variant | MODIFIER | c.5263+2509G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109850520 | |||||||
| chr2:109850630 | G | A | 3 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 |
3 | HG01884.hp1 HG02615.hp2 NA18943.hp2 |
intron_variant | MODIFIER | c.5263+2619G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109850630 | |||||||
| chr2:109850743 | G | A | 18 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0003c0003t0002g0015 others(15): Show |
18 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(15): Show |
intron_variant | MODIFIER | c.5263+2732G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109850743 | |||||||
| chr2:109850787 | A | C | 12 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(9): Show |
12 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(9): Show |
intron_variant | MODIFIER | c.5263+2776A>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109850787 | |||||||
| chr2:109850908 | G | T | 13 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0003c0003t0002g0015 others(10): Show |
13 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.5263+2897G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109850908 | |||||||
| chr2:109851184 | C | CAAAAAAA others(5): Show |
1 | a0015c0017t0019g0019 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.5263+3189_5263+320 others(16): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109851184 | ||||||
| chr2:109851184 | C | CAAAAAAA others(9): Show |
1 | a0002c0002t0017g0004 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.5263+3185_5263+320 others(20): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109851184 | ||||||
| chr2:109851190 | AAAAAAAA others(15): Show |
A | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.5263+3195_5263+321 others(26): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109851190 | ||||||
| chr2:109851191 | AAAAAAAA others(14): Show |
A | 17 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0003c0003t0002g0015 others(14): Show |
17 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(14): Show |
intron_variant | MODIFIER | c.5263+3196_5263+321 others(25): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109851191 | ||||||
| chr2:109851192 | AAAAAAAA others(13): Show |
A | 5 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 others(2): Show |
5 | HG00323.hp2 HG02615.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.5263+3197_5263+321 others(24): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109851192 | ||||||
| chr2:109851193 | AAAAAAAA others(12): Show |
A | 2 | a0001c0001t0001g0010 a0001c0001t0010g0006 |
2 | HG00639.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.5263+3198_5263+321 others(23): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109851193 | ||||||
| chr2:109851195 | AAAAAAAA others(10): Show |
A | 1 | a0002c0002t0003g0003 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.5263+3200_5263+321 others(21): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109851195 | ||||||
| chr2:109851196 | AAAAAAAA others(9): Show |
A | 1 | a0010c0019t0003g0012 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.5263+3201_5263+321 others(20): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109851196 | ||||||
| chr2:109851197 | AAAAAAAA others(8): Show |
A | 1 | a0002c0002t0003g0013 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.5263+3201_5263+321 others(19): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109851197 | ||||||
| chr2:109851211 | AT | A | 2 | a0001c0009t0003g0040 a0002c0002t0018g0009 |
2 | HG01928.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.5263+3201delT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109851211 | |||||||
| chr2:109851212 | T | A | 3 | a0002c0002t0017g0004 a0015c0017t0019g0019 a0016c0018t0011g0001 |
3 | HG00280.hp2 HG02723.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.5263+3201T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109851212 | |||||||
| chr2:109851217 | A | G | 16 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0003c0003t0002g0015 others(13): Show |
16 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(13): Show |
intron_variant | MODIFIER | c.5263+3206A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109851217 | |||||||
| chr2:109851317 | T | G | 11 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(8): Show |
11 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(8): Show |
intron_variant | MODIFIER | c.5263+3306T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109851317 | |||||||
| chr2:109851351 | G | A | 12 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(9): Show |
12 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(9): Show |
intron_variant | MODIFIER | c.5263+3340G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109851351 | |||||||
| chr2:109851363 | C | T | 1 | a0002c0002t0003g0003 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.5263+3352C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109851363 | |||||||
| chr2:109851755 | T | C | 12 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(9): Show |
12 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(9): Show |
intron_variant | MODIFIER | c.5263+3744T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109851755 | |||||||
| chr2:109852048 | A | G | 1 | a0010c0019t0003g0012 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.5264-3814A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852048 | |||||||
| chr2:109852214 | G | A | 12 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(9): Show |
12 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(9): Show |
intron_variant | MODIFIER | c.5264-3648G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852214 | |||||||
| chr2:109852374 | G | T | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5264-3488G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852374 | |||||||
| chr2:109852435 | T | C | 11 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(8): Show |
11 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(8): Show |
intron_variant | MODIFIER | c.5264-3427T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852435 | |||||||
| chr2:109852485 | C | G | 1 | a0001c0001t0001g0008 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.5264-3377C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852485 | |||||||
| chr2:109852510 | C | T | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5264-3352C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852510 | |||||||
| chr2:109852593 | G | T | 1 | a0013c0012t0020g0036 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.5264-3269G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852593 | |||||||
| chr2:109852598 | G | A | 1 | a0002c0002t0003g0003 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.5264-3264G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852598 | |||||||
| chr2:109852637 | T | G | 2 | a0001c0001t0001g0010 a0001c0001t0001g0011 |
2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.5264-3225T>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852637 | |||||||
| chr2:109852644 | G | C | 2 | a0001c0005t0001g0038 a0001c0005t0001g0039 |
2 | HG02723.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.5264-3218G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852644 | |||||||
| chr2:109852646 | A | G | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.5264-3216A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852646 | |||||||
| chr2:109852670 | T | C | 15 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(12): Show |
15 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(12): Show |
intron_variant | MODIFIER | c.5264-3192T>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852670 | |||||||
| chr2:109852714 | C | A | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5264-3148C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852714 | |||||||
| chr2:109852759 | A | G | 30 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 others(27): Show |
30 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
intron_variant | MODIFIER | c.5264-3103A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109852759 | |||||||
| chr2:109853056 | G | C | 1 | a0012c0008t0007g0037 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5264-2806G>C | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109853056 | |||||||
| chr2:109853693 | C | T | 3 | a0003c0003t0002g0015 a0003c0003t0002g0024 a0011c0020t0012g0029 |
3 | HG02027.hp1 HG02080.hp2 NA18943.hp1 |
intron_variant | MODIFIER | c.5264-2169C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109853693 | |||||||
| chr2:109853828 | A | G | 1 | a0001c0001t0001g0014 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.5264-2034A>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109853828 | |||||||
| chr2:109854426 | G | A | 10 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(7): Show |
10 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(7): Show |
intron_variant | MODIFIER | c.5264-1436G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109854426 | |||||||
| chr2:109854480 | G | A | 27 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.5264-1382G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109854480 | |||||||
| chr2:109854535 | C | T | 1 | a0005c0006t0004g0027 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5264-1327C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109854535 | |||||||
| chr2:109854743 | C | T | 3 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0012c0008t0007g0037 |
3 | HG02280.hp1 HG02723.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.5264-1119C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109854743 | |||||||
| chr2:109855021 | A | AT | 13 | a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0024 others(10): Show |
13 | HG00140.hp1 HG00280.hp1 HG01928.hp2 others(10): Show |
intron_variant | MODIFIER | c.5264-832dupT | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109855021 | ||||||
| chr2:109855030 | T | A | 2 | a0002c0002t0018g0009 a0016c0018t0011g0001 |
2 | HG01928.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.5264-832T>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855030 | |||||||
| chr2:109855037 | C | T | 27 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.5264-825C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855037 | |||||||
| chr2:109855390 | G | A | 25 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(22): Show |
25 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(22): Show |
intron_variant | MODIFIER | c.5264-472G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855390 | |||||||
| chr2:109855429 | C | T | 1 | a0001c0001t0001g0017 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.5264-433C>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855429 | |||||||
| chr2:109855495 | C | G | 1 | a0001c0001t0010g0006 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.5264-367C>G | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855495 | |||||||
| chr2:109855619 | G | T | 26 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(23): Show |
26 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.5264-243G>T | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855619 | |||||||
| chr2:109855691 | C | CAAAAAAA others(3): Show |
4 | a0003c0003t0002g0022 a0003c0003t0016g0030 a0006c0016t0002g0025 others(1): Show |
4 | HG00140.hp1 HG01928.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.5264-161_5264-152d others(12): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109855691 | ||||||
| chr2:109855691 | C | CAAAAAAA others(4): Show |
7 | a0003c0003t0002g0024 a0003c0003t0002g0026 a0005c0006t0004g0027 others(4): Show |
7 | HG00280.hp1 HG02027.hp1 HG02080.hp2 others(4): Show |
intron_variant | MODIFIER | c.5264-162_5264-152d others(13): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109855691 | ||||||
| chr2:109855692 | A | AAAAAAAA others(3): Show |
1 | a0004c0004t0015g0035 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5264-161_5264-160i others(12): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 109855692 | ||||||
| chr2:109855711 | G | A | 15 | a0001c0009t0003g0040 a0002c0002t0003g0003 a0002c0002t0003g0005 others(12): Show |
15 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(12): Show |
intron_variant | MODIFIER | c.5264-151G>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855711 | |||||||
| chr2:109855713 | A | AAAAAAAA others(5): Show |
3 | a0002c0002t0018g0009 a0003c0003t0002g0015 a0004c0004t0013g0034 |
3 | HG01928.hp1 HG02615.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.5264-149_5264-148i others(14): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855713 | |||||||
| chr2:109855713 | A | AAAAAAAA others(6): Show |
1 | a0001c0009t0003g0040 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.5264-149_5264-148i others(15): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855713 | |||||||
| chr2:109855713 | A | AAAAAAAG others(3): Show |
1 | a0007c0014t0003g0002 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.5264-149_5264-148i others(12): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855713 | |||||||
| chr2:109855713 | A | AAAAAAAG others(4): Show |
4 | a0002c0002t0003g0013 a0002c0002t0017g0004 a0004c0004t0014g0031 others(1): Show |
4 | HG00280.hp2 HG02080.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.5264-149_5264-148i others(13): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855713 | |||||||
| chr2:109855713 | A | AAAAAAAG others(5): Show |
2 | a0002c0002t0003g0003 a0002c0002t0003g0023 |
2 | HG00323.hp1 HG00639.hp1 |
intron_variant | MODIFIER | c.5264-149_5264-148i others(14): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855713 | |||||||
| chr2:109855713 | A | AAAAAAAG others(6): Show |
1 | a0002c0002t0003g0005 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5264-149_5264-148i others(15): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855713 | |||||||
| chr2:109855713 | A | AAAAAAGA others(4): Show |
1 | a0010c0019t0003g0012 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.5264-149_5264-148i others(13): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855713 | |||||||
| chr2:109855714 | C | A | 1 | a0016c0018t0011g0001 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5264-148C>A | RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | chr2 | 109855714 |