Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 5865 |
| ensemblid | ENSG00000169213.7 |
| hgncid | 9778 |
| symbol | RAB3B |
| name | RAB3B, member RAS oncogene family |
| refseq_nuc | NM_002867.4 |
| refseq_prot | NP_002858.2 |
| ensembl_nuc | ENST00000371655.4 |
| ensembl_prot | ENSP00000360718.3 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 51907956 |
| end | 51990700 |
| strand | - |
| ver | v1.2 |
| region | chr1:51907956-51990700 |
| region5000 | chr1:51902956-51995700 |
| regionname0 | RAB3B_chr1_51907956_51990700 |
| regionname5000 | RAB3B_chr1_51902956_51995700 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 219 | 62 | 42 | 8 | 6 | 0 | 4 | 2 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 660 | 47 | 30 | 6 | 6 | 0 | 3 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| c0002 | 0/0 | 660 | 14 | 11 | 2 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| c0003 | 0/0 | 660 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 12121 | 4 | 4 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0002 | 0/0 | 12091 | 3 | 1 | 1 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0003 | 0/0 | 12118 | 2 | 2 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0004 | 0/0 | 12092 | 2 | 0 | 1 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0005 | 0/0 | 12093 | 2 | 0 | 1 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0006 | 0/0 | 12092 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0007 | 0/0 | 12093 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0008 | 0/0 | 12109 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0009 | 0/0 | 12092 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0010 | 0/0 | 12108 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0011 | 0/0 | 12092 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0012 | 0/0 | 12111 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0013 | 0/0 | 12121 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0014 | 1/0 | 12121 | 1 | 0 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0015 | 0/0 | 12121 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0016 | 0/0 | 12103 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0017 | 0/0 | 12117 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0018 | 0/0 | 12122 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0019 | 0/0 | 12122 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0020 | 0/0 | 12115 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0021 | 0/0 | 12115 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0022 | 0/0 | 12123 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0023 | 0/0 | 12114 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0024 | 0/0 | 12113 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0025 | 0/0 | 12121 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0026 | 0/1 | 12121 | 1 | 0 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0027 | 0/0 | 12121 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0028 | 0/0 | 12116 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0029 | 0/0 | 12114 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0030 | 0/0 | 12114 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0031 | 0/0 | 12121 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0032 | 0/0 | 12120 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0033 | 0/0 | 12118 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0034 | 0/0 | 12090 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0035 | 0/0 | 12108 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0036 | 0/0 | 12118 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0037 | 0/0 | 12093 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0038 | 0/0 | 12094 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0039 | 0/0 | 12089 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0040 | 0/0 | 12090 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0041 | 0/0 | 12090 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0042 | 0/0 | 12091 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0043 | 0/0 | 12108 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0044 | 0/0 | 12095 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0045 | 0/0 | 12096 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0046 | 0/0 | 12094 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0047 | 0/0 | 12103 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0048 | 0/0 | 12096 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0049 | 0/0 | 12097 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0050 | 0/0 | 12092 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0051 | 0/0 | 12093 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0052 | 0/0 | 12093 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0053 | 0/0 | 12094 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| t0054 | 0/0 | 12103 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0030 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0033 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 660 | 47 | 30 | 6 | 6 | 0 | 3 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002 | 0/0 | 660 | 14 | 11 | 2 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0003 | 0/0 | 660 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002 | 0/0 | 12750 | 3 | 1 | 1 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0004 | 0/0 | 12751 | 2 | 0 | 1 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0005 | 0/0 | 12752 | 2 | 0 | 1 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0006 | 0/0 | 12751 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0007 | 0/0 | 12752 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0008 | 0/0 | 12768 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0009 | 0/0 | 12751 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0010 | 0/0 | 12767 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0011 | 0/0 | 12751 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0012 | 0/0 | 12770 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0013 | 0/0 | 12780 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0014 | 1/0 | 12780 | 1 | 0 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0015 | 0/0 | 12780 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0016 | 0/0 | 12762 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0020 | 0/0 | 12774 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0022 | 0/0 | 12782 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0023 | 0/0 | 12773 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0024 | 0/0 | 12772 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0026 | 0/1 | 12780 | 1 | 0 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0027 | 0/0 | 12780 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0028 | 0/0 | 12775 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0029 | 0/0 | 12773 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0030 | 0/0 | 12773 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0034 | 0/0 | 12749 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0035 | 0/0 | 12767 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0036 | 0/0 | 12777 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0037 | 0/0 | 12752 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0038 | 0/0 | 12753 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0039 | 0/0 | 12748 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0040 | 0/0 | 12749 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0041 | 0/0 | 12749 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0042 | 0/0 | 12750 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0044 | 0/0 | 12754 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0045 | 0/0 | 12755 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0046 | 0/0 | 12753 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0047 | 0/0 | 12762 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0048 | 0/0 | 12755 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0049 | 0/0 | 12756 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0050 | 0/0 | 12751 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0051 | 0/0 | 12752 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0052 | 0/0 | 12752 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0053 | 0/0 | 12753 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0001t0054 | 0/0 | 12762 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0001 | 0/0 | 12780 | 4 | 4 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0003 | 0/0 | 12777 | 2 | 2 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0017 | 0/0 | 12776 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0018 | 0/0 | 12781 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0019 | 0/0 | 12781 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0021 | 0/0 | 12774 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0025 | 0/0 | 12780 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0031 | 0/0 | 12780 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0032 | 0/0 | 12779 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0002t0033 | 0/0 | 12777 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| a0001c0003t0043 | 0/0 | 12767 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | copy fasta | chr1 | 51902956 | 51995700 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0002g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0002g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0004g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0004g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0005g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0005g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0006g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0007g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0008g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0009g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0010g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0011g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0012g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0013g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0014g0033 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0015g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0016g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0020g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0022g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0023g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0024g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0026g0030 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0027g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0028g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0029g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0030g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0034g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0035g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0036g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0037g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0038g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0039g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0040g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0041g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0042g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0044g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0045g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0046g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0047g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0048g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0049g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0050g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0051g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0052g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0053g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0001t0054g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0003g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0003g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0017g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0018g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0019g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0021g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0025g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0031g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0032g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0002t0033g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| a0001c0003t0043g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00558 | hp1 | a0001 | c0001 | t0045 | g0061 | EAS | CHS | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG00558 | hp2 | a0001 | c0001 | t0037 | g0034 | EAS | CHS | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG00609 | hp1 | a0001 | c0001 | t0034 | g0031 | EAS | CHS | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG00609 | hp2 | a0001 | c0001 | t0011 | g0037 | EAS | CHS | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG00639 | hp1 | a0001 | c0001 | t0036 | g0014 | AMR | PUR | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG00639 | hp2 | a0001 | c0001 | t0012 | g0023 | AMR | PUR | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG00642 | hp1 | a0001 | c0002 | t0031 | g0038 | AMR | PUR | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG00642 | hp2 | a0001 | c0001 | t0005 | g0039 | AMR | PUR | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG01071 | hp1 | a0001 | c0001 | t0004 | g0025 | AMR | PUR | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG01071 | hp2 | a0001 | c0001 | t0016 | g0032 | AMR | PUR | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG01167 | hp1 | a0001 | c0001 | t0002 | g0022 | AMR | PUR | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG01167 | hp2 | a0001 | c0002 | t0033 | g0058 | AMR | PUR | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02258 | hp1 | a0001 | c0002 | t0019 | g0052 | AFR | ACB | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02258 | hp2 | a0001 | c0002 | t0032 | g0048 | AFR | ACB | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02280 | hp1 | a0001 | c0001 | t0013 | g0026 | AFR | ACB | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02280 | hp2 | a0001 | c0001 | t0049 | g0009 | AFR | ACB | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02572 | hp1 | a0001 | c0001 | t0048 | g0012 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02572 | hp2 | a0001 | c0001 | t0002 | g0017 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02630 | hp1 | a0001 | c0001 | t0053 | g0007 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02630 | hp2 | a0001 | c0002 | t0025 | g0049 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02647 | hp1 | a0001 | c0001 | t0052 | g0044 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02647 | hp2 | a0001 | c0002 | t0001 | g0051 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02717 | hp1 | a0001 | c0001 | t0007 | g0002 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02717 | hp2 | a0001 | c0002 | t0021 | g0057 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02886 | hp1 | a0001 | c0001 | t0027 | g0016 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02886 | hp2 | a0001 | c0001 | t0009 | g0003 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02895 | hp1 | a0001 | c0001 | t0015 | g0021 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02895 | hp2 | a0001 | c0002 | t0003 | g0055 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02897 | hp1 | a0001 | c0001 | t0039 | g0041 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02897 | hp2 | a0001 | c0002 | t0003 | g0056 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02922 | hp1 | a0001 | c0001 | t0030 | g0029 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02922 | hp2 | a0001 | c0001 | t0054 | g0008 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02965 | hp1 | a0001 | c0001 | t0046 | g0042 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02965 | hp2 | a0001 | c0001 | t0040 | g0036 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02970 | hp1 | a0001 | c0001 | t0035 | g0005 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02970 | hp2 | a0001 | c0001 | t0028 | g0040 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02976 | hp1 | a0001 | c0001 | t0047 | g0011 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02976 | hp2 | a0001 | c0001 | t0024 | g0054 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03041 | hp1 | a0001 | c0002 | t0017 | g0059 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03041 | hp2 | a0001 | c0001 | t0006 | g0004 | AFR | GWD | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03130 | hp1 | a0001 | c0002 | t0001 | g0053 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03130 | hp2 | a0001 | c0001 | t0050 | g0010 | AFR | ESN | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03225 | hp1 | a0001 | c0003 | t0043 | g0060 | AFR | MSL | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03225 | hp2 | a0001 | c0001 | t0051 | g0013 | AFR | MSL | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03710 | hp1 | a0001 | c0001 | t0044 | g0062 | SAS | PJL | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03710 | hp2 | a0001 | c0001 | t0005 | g0024 | SAS | PJL | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03834 | hp1 | a0001 | c0001 | t0002 | g0020 | SAS | BEB | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG03834 | hp2 | a0001 | c0002 | t0018 | g0019 | SAS | BEB | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| NA18522 | hp1 | a0001 | c0001 | t0029 | g0028 | AFR | YRI | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| NA18522 | hp2 | a0001 | c0001 | t0041 | g0046 | AFR | YRI | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| NA18906 | hp1 | a0001 | c0001 | t0022 | g0018 | AFR | YRI | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| NA18906 | hp2 | a0001 | c0002 | t0001 | g0050 | AFR | YRI | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| NA18983 | hp1 | a0001 | c0001 | t0004 | g0043 | EAS | JPT | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| NA18983 | hp2 | a0001 | c0001 | t0023 | g0045 | EAS | JPT | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| NA19043 | hp1 | a0001 | c0002 | t0001 | g0006 | AFR | LWK | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| NA19043 | hp2 | a0001 | c0001 | t0042 | g0027 | AFR | LWK | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02486 | hp1 | a0001 | c0001 | t0008 | g0001 | AFR | ACB | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG02486 | hp2 | a0001 | c0001 | t0020 | g0035 | AFR | ACB | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG06807 | hp1 | a0001 | c0001 | t0038 | g0047 | AFR | USA | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| HG06807 | hp2 | a0001 | c0001 | t0010 | g0015 | AFR | USA | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0026 | g0030 | REF | REF | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0014 | g0033 | REF | REF | RAB3B_chr1_51902956_51995700 | RAB3B | chr1 | 51902956 | 51995700 |
| 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 |
|---|
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:51919933
|
T | C | 1 | a0001c0003 | 1 | HG03225.hp1 | synonymous_variant | LOW | c.654A>G | p.Ser218Ser | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 803/12780 | 654/660 | 218/219 | chr1 | 51919933 | ||
| chr1:51933349
|
A | G | 1 | a0001c0002 | 14 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(11): Show |
synonymous_variant | LOW | c.441T>C | p.Thr147Thr | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/5 | 590/12780 | 441/660 | 147/219 | chr1 | 51933349 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:51908163
|
C | T | 1 | a0001c0002t0018 | 1 | HG03834.hp2 | 3_prime_UTR_variant | MODIFIER | c.*11764G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11764 | chr1 | 51908163 | |||||
| chr1:51908191
|
G | A | 18 | a0001c0001t0008a0001c0001t0020a0001c0001t0022others(15): Show | 22 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*11736C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11736 | chr1 | 51908191 | |||||
| chr1:51908222
|
A | C | 18 | a0001c0001t0008a0001c0001t0020a0001c0001t0022others(15): Show | 22 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*11705T>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11705 | chr1 | 51908222 | |||||
| chr1:51908257
|
G | C | 2 | a0001c0001t0035a0001c0001t0036 | 2 | HG00639.hp1 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*11670C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11670 | chr1 | 51908257 | |||||
| chr1:51908543
|
T | C | 2 | a0001c0001t0044a0001c0001t0045 | 2 | HG00558.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*11384A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11384 | chr1 | 51908543 | |||||
| chr1:51908564
|
TG | T | 17 | a0001c0001t0008a0001c0001t0020a0001c0001t0026others(14): Show | 21 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*11362delC | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11362 | chr1 | 51908564 | |||||
| chr1:51908734
|
C | CG | 17 | a0001c0001t0008a0001c0001t0020a0001c0001t0022others(14): Show | 21 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*11192dupC | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11192 | chr1 | 51908734 | |||||
| chr1:51908741
|
A | T | 17 | a0001c0001t0008a0001c0001t0020a0001c0001t0022others(14): Show | 21 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*11186T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11186 | chr1 | 51908741 | |||||
| chr1:51908774
|
C | A | 1 | a0001c0001t0010 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*11153G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11153 | chr1 | 51908774 | |||||
| chr1:51908904
|
T | A | 18 | a0001c0001t0008a0001c0001t0020a0001c0001t0022others(15): Show | 22 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*11023A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 11023 | chr1 | 51908904 | |||||
| chr1:51909195
|
T | G | 1 | a0001c0001t0048 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*10732A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 10732 | chr1 | 51909195 | |||||
| chr1:51909204
|
A | C | 1 | a0001c0001t0023 | 1 | NA18983.hp2 | 3_prime_UTR_variant | MODIFIER | c.*10723T>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 10723 | chr1 | 51909204 | |||||
| chr1:51909204
|
A | G | 1 | a0001c0001t0010 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*10723T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 10723 | chr1 | 51909204 | |||||
| chr1:51909262
|
C | CA | 18 | a0001c0001t0008a0001c0001t0020a0001c0001t0022others(15): Show | 22 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*10664_*10665insT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 10664 | chr1 | 51909262 | |||||
| chr1:51909280
|
A | C | 13 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | 17 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*10647T>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 10647 | chr1 | 51909280 | |||||
| chr1:51909752
|
T | C | 32 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(29): Show | 40 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(37): Show |
3_prime_UTR_variant | MODIFIER | c.*10175A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 10175 | chr1 | 51909752 | |||||
| chr1:51909857
|
TCCTGGAT others(8): Show |
T | 12 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(9): Show | 12 | HG02280.hp2 HG02572.hp1 HG02630.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*10055_*10069delCA others(13): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 10055 | chr1 | 51909857 | |||||
| chr1:51909930
|
C | T | 1 | a0001c0001t0013 | 1 | HG02280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9997G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 9997 | chr1 | 51909930 | |||||
| chr1:51909940
|
T | G | 46 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(43): Show | 54 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(51): Show |
3_prime_UTR_variant | MODIFIER | c.*9987A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 9987 | chr1 | 51909940 | |||||
| chr1:51910005
|
T | C | 33 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(30): Show | 37 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(34): Show |
3_prime_UTR_variant | MODIFIER | c.*9922A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 9922 | chr1 | 51910005 | |||||
| chr1:51910010
|
A | G | 5 | a0001c0002t0003a0001c0002t0017a0001c0002t0018others(2): Show | 6 | HG02258.hp1 HG02717.hp2 HG02895.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*9917T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 9917 | chr1 | 51910010 | |||||
| chr1:51910145
|
T | G | 1 | a0001c0003t0043 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9782A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 9782 | chr1 | 51910145 | |||||
| chr1:51910200
|
T | C | 34 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(31): Show | 42 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*9727A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 9727 | chr1 | 51910200 | |||||
| chr1:51910313
|
C | T | 1 | a0001c0003t0043 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9614G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 9614 | chr1 | 51910313 | |||||
| chr1:51910371
|
C | A | 4 | a0001c0001t0047a0001c0001t0048a0001c0001t0050others(1): Show | 4 | HG02572.hp1 HG02976.hp1 HG03130.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*9556G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 9556 | chr1 | 51910371 | |||||
| chr1:51910373
|
G | A | 13 | a0001c0001t0008a0001c0001t0020a0001c0001t0026others(10): Show | 14 | HG02258.hp1 HG02258.hp2 HG02486.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*9554C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 9554 | chr1 | 51910373 | |||||
| chr1:51910970
|
G | A | 8 | a0001c0001t0020a0001c0001t0026a0001c0001t0027others(5): Show | 11 | HG02486.hp2 HG02630.hp2 HG02647.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*8957C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 8957 | chr1 | 51910970 | |||||
| chr1:51911097
|
C | T | 14 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(11): Show | 14 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*8830G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 8830 | chr1 | 51911097 | |||||
| chr1:51911283
|
G | A | 3 | a0001c0002t0018a0001c0002t0019a0001c0002t0021 | 3 | HG02258.hp1 HG02717.hp2 HG03834.hp2 |
3_prime_UTR_variant | MODIFIER | c.*8644C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 8644 | chr1 | 51911283 | |||||
| chr1:51911367
|
T | A | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*8560A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 8560 | chr1 | 51911367 | |||||
| chr1:51911390
|
TTTTG | T | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*8533_*8536delCAAA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 8533 | chr1 | 51911390 | |||||
| chr1:51911855
|
C | T | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*8072G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 8072 | chr1 | 51911855 | |||||
| chr1:51911947
|
GGA | G | 13 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | 13 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*7978_*7979delTC | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7978 | chr1 | 51911947 | |||||
| chr1:51912115
|
T | C | 13 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | 17 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*7812A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7812 | chr1 | 51912115 | |||||
| chr1:51912124
|
T | C | 1 | a0001c0002t0019 | 1 | HG02258.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7803A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7803 | chr1 | 51912124 | |||||
| chr1:51912259
|
A | G | 1 | a0001c0001t0022 | 1 | NA18906.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7668T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7668 | chr1 | 51912259 | |||||
| chr1:51912471
|
G | A | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*7456C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7456 | chr1 | 51912471 | |||||
| chr1:51912542
|
T | TAAAAAAA others(3): Show |
1 | a0001c0001t0036 | 1 | HG00639.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7375_*7384dupTTTT others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7384 | chr1 | 51912542 | |||||
| chr1:51912555
|
ATAT | A | 2 | a0001c0002t0003a0001c0002t0033 | 3 | HG01167.hp2 HG02895.hp2 HG02897.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7369_*7371delATA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7369 | chr1 | 51912555 | |||||
| chr1:51912555
|
ATATAT | A | 2 | a0001c0001t0028a0001c0002t0017 | 2 | HG02970.hp2 HG03041.hp1 |
3_prime_UTR_variant | MODIFIER | c.*7367_*7371delATAT others(1): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7367 | chr1 | 51912555 | |||||
| chr1:51912555
|
ATATATAT | A | 7 | a0001c0001t0020a0001c0001t0024a0001c0001t0029others(4): Show | 7 | HG02486.hp2 HG02572.hp1 HG02717.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*7365_*7371delATAT others(3): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7365 | chr1 | 51912555 | |||||
| chr1:51912555
|
ATATATAT others(2): Show |
A | 2 | a0001c0001t0046a0001c0001t0053 | 2 | HG02630.hp1 HG02965.hp1 |
3_prime_UTR_variant | MODIFIER | c.*7363_*7371delATAT others(5): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7363 | chr1 | 51912555 | |||||
| chr1:51912555
|
ATATATAT others(4): Show |
A | 4 | a0001c0001t0006a0001c0001t0009a0001c0001t0038others(1): Show | 4 | HG02886.hp2 HG03041.hp2 HG03130.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*7361_*7371delATAT others(7): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7361 | chr1 | 51912555 | |||||
| chr1:51912555
|
ATATATAT others(6): Show |
A | 2 | a0001c0001t0004a0001c0001t0011 | 3 | HG00609.hp2 HG01071.hp1 NA18983.hp1 |
3_prime_UTR_variant | MODIFIER | c.*7359_*7371delATAT others(9): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7359 | chr1 | 51912555 | |||||
| chr1:51912555
|
ATATATAT others(8): Show |
A | 3 | a0001c0001t0034a0001c0001t0040a0001c0001t0041 | 3 | HG00609.hp1 HG02965.hp2 NA18522.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7357_*7371delATAT others(11): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7357 | chr1 | 51912555 | |||||
| chr1:51912555
|
ATATATAT others(12): Show |
A | 1 | a0001c0001t0044 | 1 | HG03710.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7353_*7371delATAT others(15): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7353 | chr1 | 51912555 | |||||
| chr1:51912556
|
T | A | 20 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(17): Show | 23 | HG00558.hp1 HG00558.hp2 HG00639.hp2 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*7371A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7371 | chr1 | 51912556 | |||||
| chr1:51912558
|
T | A | 18 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(15): Show | 21 | HG00558.hp1 HG00558.hp2 HG00642.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*7369A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7369 | chr1 | 51912558 | |||||
| chr1:51912560
|
T | A | 18 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(15): Show | 22 | HG00558.hp1 HG00558.hp2 HG00642.hp2 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*7367A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7367 | chr1 | 51912560 | |||||
| chr1:51912562
|
T | A | 15 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(12): Show | 18 | HG00558.hp2 HG00642.hp2 HG01071.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*7365A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7365 | chr1 | 51912562 | |||||
| chr1:51912564
|
T | A | 18 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(15): Show | 21 | HG00558.hp2 HG00642.hp2 HG01071.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*7363A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7363 | chr1 | 51912564 | |||||
| chr1:51912566
|
T | A | 15 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(12): Show | 18 | HG00558.hp2 HG00642.hp2 HG01167.hp1 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*7361A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7361 | chr1 | 51912566 | |||||
| chr1:51912568
|
T | A | 13 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(10): Show | 16 | HG00558.hp2 HG00642.hp2 HG01167.hp1 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*7359A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7359 | chr1 | 51912568 | |||||
| chr1:51912570
|
T | A | 8 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(5): Show | 9 | HG00609.hp2 HG01071.hp1 HG02630.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*7357A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7357 | chr1 | 51912570 | |||||
| chr1:51912572
|
T | A | 10 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(7): Show | 11 | HG00609.hp1 HG00609.hp2 HG01071.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*7355A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7355 | chr1 | 51912572 | |||||
| chr1:51912574
|
T | A | 8 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(5): Show | 9 | HG00609.hp1 HG00609.hp2 HG01071.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*7353A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7353 | chr1 | 51912574 | |||||
| chr1:51912576
|
T | A | 8 | a0001c0001t0004a0001c0001t0009a0001c0001t0011others(5): Show | 9 | HG00609.hp1 HG00609.hp2 HG01071.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*7351A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7351 | chr1 | 51912576 | |||||
| chr1:51912578
|
T | A | 6 | a0001c0001t0004a0001c0001t0011a0001c0001t0034others(3): Show | 7 | HG00609.hp1 HG00609.hp2 HG01071.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*7349A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7349 | chr1 | 51912578 | |||||
| chr1:51912580
|
T | A | 4 | a0001c0001t0004a0001c0001t0011a0001c0001t0034others(1): Show | 5 | HG00609.hp1 HG00609.hp2 HG01071.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*7347A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7347 | chr1 | 51912580 | |||||
| chr1:51912582
|
T | A | 1 | a0001c0001t0034 | 1 | HG00609.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7345A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7345 | chr1 | 51912582 | |||||
| chr1:51912583
|
A | G | 1 | a0001c0001t0045 | 1 | HG00558.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7344T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7344 | chr1 | 51912583 | |||||
| chr1:51912584
|
TATATATA others(11): Show |
T | 2 | a0001c0001t0016a0001c0001t0045 | 2 | HG00558.hp1 HG01071.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7325_*7342delTTAT others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7325 | chr1 | 51912584 | |||||
| chr1:51912586
|
TATATATA others(9): Show |
T | 1 | a0001c0001t0039 | 1 | HG02897.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7325_*7340delTTAT others(12): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7325 | chr1 | 51912586 | |||||
| chr1:51912588
|
TATATATA others(7): Show |
T | 2 | a0001c0001t0002a0001c0001t0042 | 4 | HG01167.hp1 HG02572.hp2 HG03834.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*7325_*7338delTTAT others(10): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7325 | chr1 | 51912588 | |||||
| chr1:51912590
|
TATATATA others(5): Show |
T | 2 | a0001c0001t0005a0001c0001t0037 | 3 | HG00558.hp2 HG00642.hp2 HG03710.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7325_*7336delTTAT others(8): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7325 | chr1 | 51912590 | |||||
| chr1:51912592
|
TATATATA others(3): Show |
T | 5 | a0001c0001t0007a0001c0001t0008a0001c0001t0012others(2): Show | 5 | HG00639.hp2 HG02486.hp1 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*7325_*7334delTTAT others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7325 | chr1 | 51912592 | |||||
| chr1:51912594
|
T | C | 1 | a0001c0001t0036 | 1 | HG00639.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7333A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7333 | chr1 | 51912594 | |||||
| chr1:51912596
|
TATATAA | T | 2 | a0001c0001t0023a0001c0001t0049 | 2 | HG02280.hp2 NA18983.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7325_*7330delTTAT others(2): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7325 | chr1 | 51912596 | |||||
| chr1:51912601
|
A | G | 1 | a0001c0001t0044 | 1 | HG03710.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7326T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7326 | chr1 | 51912601 | |||||
| chr1:51912602
|
A | T | 36 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(33): Show | 41 | HG00609.hp1 HG00609.hp2 HG00639.hp1 others(38): Show |
3_prime_UTR_variant | MODIFIER | c.*7325T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7325 | chr1 | 51912602 | |||||
| chr1:51912956
|
C | CAT | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6970_*6971insAT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 6970 | chr1 | 51912956 | |||||
| chr1:51912956
|
C | T | 1 | a0001c0001t0012 | 1 | HG00639.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6971G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 6971 | chr1 | 51912956 | |||||
| chr1:51913053
|
G | A | 1 | a0001c0002t0025 | 1 | HG02630.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6874C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 6874 | chr1 | 51913053 | |||||
| chr1:51913189
|
A | T | 1 | a0001c0001t0046 | 1 | HG02965.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6738T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 6738 | chr1 | 51913189 | |||||
| chr1:51913337
|
G | A | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6590C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 6590 | chr1 | 51913337 | |||||
| chr1:51913477
|
C | T | 46 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(43): Show | 54 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(51): Show |
3_prime_UTR_variant | MODIFIER | c.*6450G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 6450 | chr1 | 51913477 | |||||
| chr1:51913503
|
G | A | 1 | a0001c0001t0015 | 1 | HG02895.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6424C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 6424 | chr1 | 51913503 | |||||
| chr1:51913511
|
G | A | 1 | a0001c0001t0016 | 1 | HG01071.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6416C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 6416 | chr1 | 51913511 | |||||
| chr1:51914024
|
C | T | 1 | a0001c0002t0025 | 1 | HG02630.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5903G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 5903 | chr1 | 51914024 | |||||
| chr1:51914408
|
C | T | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*5519G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 5519 | chr1 | 51914408 | |||||
| chr1:51914629
|
C | G | 2 | a0001c0001t0044a0001c0001t0045 | 2 | HG00558.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*5298G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 5298 | chr1 | 51914629 | |||||
| chr1:51914796
|
C | T | 1 | a0001c0001t0037 | 1 | HG00558.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5131G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 5131 | chr1 | 51914796 | |||||
| chr1:51915136
|
T | C | 14 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(11): Show | 14 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*4791A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 4791 | chr1 | 51915136 | |||||
| chr1:51915172
|
T | C | 2 | a0001c0001t0035a0001c0001t0036 | 2 | HG00639.hp1 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4755A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 4755 | chr1 | 51915172 | |||||
| chr1:51915310
|
A | G | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4617T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 4617 | chr1 | 51915310 | |||||
| chr1:51915435
|
G | A | 15 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(12): Show | 15 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*4492C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 4492 | chr1 | 51915435 | |||||
| chr1:51915546
|
A | G | 1 | a0001c0001t0034 | 1 | HG00609.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4381T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 4381 | chr1 | 51915546 | |||||
| chr1:51915592
|
C | T | 1 | a0001c0001t0012 | 1 | HG00639.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4335G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 4335 | chr1 | 51915592 | |||||
| chr1:51915688
|
GTTGT | G | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4235_*4238delACAA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 4235 | chr1 | 51915688 | |||||
| chr1:51915691
|
GTTT | G | 11 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | 15 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*4233_*4235delAAA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 4233 | chr1 | 51915691 | |||||
| chr1:51915880
|
G | A | 12 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | 16 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*4047C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 4047 | chr1 | 51915880 | |||||
| chr1:51915957
|
G | T | 2 | a0001c0001t0035a0001c0001t0036 | 2 | HG00639.hp1 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3970C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 3970 | chr1 | 51915957 | |||||
| chr1:51916185
|
G | C | 2 | a0001c0001t0044a0001c0001t0045 | 2 | HG00558.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3742C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 3742 | chr1 | 51916185 | |||||
| chr1:51916453
|
A | G | 1 | a0001c0001t0022 | 1 | NA18906.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3474T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 3474 | chr1 | 51916453 | |||||
| chr1:51916679
|
G | T | 1 | a0001c0001t0022 | 1 | NA18906.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3248C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 3248 | chr1 | 51916679 | |||||
| chr1:51916680
|
T | A | 1 | a0001c0001t0022 | 1 | NA18906.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3247A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 3247 | chr1 | 51916680 | |||||
| chr1:51916968
|
G | A | 2 | a0001c0001t0035a0001c0001t0036 | 2 | HG00639.hp1 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2959C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 2959 | chr1 | 51916968 | |||||
| chr1:51917411
|
G | A | 49 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(46): Show | 57 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(54): Show |
3_prime_UTR_variant | MODIFIER | c.*2516C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 2516 | chr1 | 51917411 | |||||
| chr1:51917536
|
C | T | 14 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(11): Show | 14 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*2391G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 2391 | chr1 | 51917536 | |||||
| chr1:51917583
|
T | C | 48 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(45): Show | 56 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(53): Show |
3_prime_UTR_variant | MODIFIER | c.*2344A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 2344 | chr1 | 51917583 | |||||
| chr1:51917589
|
C | T | 2 | a0001c0001t0035a0001c0001t0036 | 2 | HG00639.hp1 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2338G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 2338 | chr1 | 51917589 | |||||
| chr1:51917735
|
G | A | 3 | a0001c0002t0031a0001c0002t0032a0001c0002t0033 | 3 | HG00642.hp1 HG01167.hp2 HG02258.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2192C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 2192 | chr1 | 51917735 | |||||
| chr1:51917937
|
C | G | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1990G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 1990 | chr1 | 51917937 | |||||
| chr1:51918590
|
T | C | 1 | a0001c0001t0022 | 1 | NA18906.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1337A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 1337 | chr1 | 51918590 | |||||
| chr1:51918914
|
A | G | 1 | a0001c0001t0034 | 1 | HG00609.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1013T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 1013 | chr1 | 51918914 | |||||
| chr1:51918971
|
CT | C | 28 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(25): Show | 32 | HG00558.hp1 HG00642.hp1 HG01167.hp2 others(29): Show |
3_prime_UTR_variant | MODIFIER | c.*955delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 955 | chr1 | 51918971 | |||||
| chr1:51918971
|
CTTTTTTT others(6): Show |
C | 14 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | 18 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*943_*955delAAAAAA others(7): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 943 | chr1 | 51918971 | |||||
| chr1:51919262
|
C | A | 3 | a0001c0001t0044a0001c0001t0045a0001c0003t0043 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
3_prime_UTR_variant | MODIFIER | c.*665G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 665 | chr1 | 51919262 | |||||
| chr1:51919278
|
C | T | 1 | a0001c0001t0011 | 1 | HG00609.hp2 | 3_prime_UTR_variant | MODIFIER | c.*649G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 649 | chr1 | 51919278 | |||||
| chr1:51919462
|
A | G | 1 | a0001c0001t0010 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*465T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 465 | chr1 | 51919462 | |||||
| chr1:51919908
|
T | C | 13 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | 13 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*19A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 19 | chr1 | 51919908 | |||||
| chr1:51990654
|
C | T | 4 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(1): Show | 4 | HG02486.hp1 HG02717.hp1 HG02886.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-103G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/5 | 13537 | chr1 | 51990654 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:51920544
|
C | T | 3 | a0001c0001t0044g0062a0001c0001t0045g0061a0001c0003t0043g0060 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.473-430G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51920544 | ||||||
| chr1:51921196
|
T | C | 57 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(54): Show | 57 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(54): Show |
intron_variant | MODIFIER | c.473-1082A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51921196 | ||||||
| chr1:51921439
|
A | G | 3 | a0001c0001t0044g0062a0001c0001t0045g0061a0001c0003t0043g0060 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.473-1325T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51921439 | ||||||
| chr1:51921588
|
G | A | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.473-1474C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51921588 | ||||||
| chr1:51921897
|
A | G | 3 | a0001c0001t0044g0062a0001c0001t0045g0061a0001c0003t0043g0060 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.473-1783T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51921897 | ||||||
| chr1:51922674
|
C | CT | 14 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(11): Show | 14 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.473-2561dupA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51922674 | ||||||
| chr1:51922679
|
T | TA | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.473-2566_473-2565i others(3): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51922679 | ||||||
| chr1:51922724
|
T | C | 1 | a0001c0001t0026g0030 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.473-2610A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51922724 | ||||||
| chr1:51922766
|
G | A | 1 | a0001c0001t0039g0041 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.473-2652C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51922766 | ||||||
| chr1:51923714
|
C | CA | 19 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(16): Show | 19 | HG00642.hp1 HG01167.hp2 HG02258.hp2 others(16): Show |
intron_variant | MODIFIER | c.473-3601dupT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51923714 | ||||||
| chr1:51923813
|
G | T | 1 | a0001c0001t0010g0015 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.473-3699C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51923813 | ||||||
| chr1:51924673
|
C | T | 3 | a0001c0002t0031g0038a0001c0002t0032g0048a0001c0002t0033g0058 | 3 | HG00642.hp1 HG01167.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.473-4559G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51924673 | ||||||
| chr1:51924821
|
A | C | 1 | a0001c0001t0009g0003 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.473-4707T>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51924821 | ||||||
| chr1:51924860
|
T | C | 1 | a0001c0001t0015g0021 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.473-4746A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51924860 | ||||||
| chr1:51925213
|
C | T | 1 | a0001c0001t0040g0036 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.473-5099G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51925213 | ||||||
| chr1:51925287
|
C | G | 6 | a0001c0002t0003g0055a0001c0002t0003g0056a0001c0002t0017g0059others(3): Show | 6 | HG02258.hp1 HG02717.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.473-5173G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51925287 | ||||||
| chr1:51925360
|
C | T | 17 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(14): Show | 17 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(14): Show |
intron_variant | MODIFIER | c.473-5246G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51925360 | ||||||
| chr1:51925443
|
G | A | 1 | a0001c0002t0019g0052 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.473-5329C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51925443 | ||||||
| chr1:51925466
|
C | A | 1 | a0001c0002t0031g0038 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.473-5352G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51925466 | ||||||
| chr1:51925890
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.473-5776C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51925890 | ||||||
| chr1:51925920
|
T | C | 57 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(54): Show | 57 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(54): Show |
intron_variant | MODIFIER | c.473-5806A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51925920 | ||||||
| chr1:51926072
|
C | T | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.473-5958G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51926072 | ||||||
| chr1:51926221
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.473-6107C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51926221 | ||||||
| chr1:51926273
|
C | T | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.473-6159G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51926273 | ||||||
| chr1:51926617
|
G | A | 6 | a0001c0002t0003g0055a0001c0002t0003g0056a0001c0002t0017g0059others(3): Show | 6 | HG02258.hp1 HG02717.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.473-6503C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51926617 | ||||||
| chr1:51926765
|
A | G | 1 | a0001c0001t0041g0046 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.472+6553T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51926765 | ||||||
| chr1:51926777
|
A | G | 9 | a0001c0002t0003g0055a0001c0002t0003g0056a0001c0002t0017g0059others(6): Show | 9 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.472+6541T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51926777 | ||||||
| chr1:51926889
|
A | G | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.472+6429T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51926889 | ||||||
| chr1:51927009
|
T | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+6309A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51927009 | ||||||
| chr1:51927605
|
G | A | 18 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(15): Show | 18 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(15): Show |
intron_variant | MODIFIER | c.472+5713C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51927605 | ||||||
| chr1:51927799
|
C | T | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+5519G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51927799 | ||||||
| chr1:51928183
|
C | T | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.472+5135G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51928183 | ||||||
| chr1:51928185
|
C | A | 2 | a0001c0002t0018g0019a0001c0002t0019g0052 | 2 | HG02258.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.472+5133G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51928185 | ||||||
| chr1:51928298
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+5020C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51928298 | ||||||
| chr1:51928685
|
C | T | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+4633G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51928685 | ||||||
| chr1:51928778
|
A | G | 1 | a0001c0001t0023g0045 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.472+4540T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51928778 | ||||||
| chr1:51929147
|
GAGA | G | 3 | a0001c0002t0031g0038a0001c0002t0032g0048a0001c0002t0033g0058 | 3 | HG00642.hp1 HG01167.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.472+4168_472+4170d others(5): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51929147 | ||||||
| chr1:51929223
|
G | T | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.472+4095C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51929223 | ||||||
| chr1:51929324
|
C | T | 1 | a0001c0001t0015g0021 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.472+3994G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51929324 | ||||||
| chr1:51929330
|
C | CTTTTTTT others(6): Show |
2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+3987_472+3988i others(15): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51929330 | ||||||
| chr1:51929340
|
C | T | 3 | a0001c0001t0044g0062a0001c0001t0045g0061a0001c0003t0043g0060 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+3978G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51929340 | ||||||
| chr1:51929684
|
C | T | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.472+3634G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51929684 | ||||||
| chr1:51929947
|
T | A | 1 | a0001c0001t0038g0047 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.472+3371A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51929947 | ||||||
| chr1:51929965
|
T | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+3353A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51929965 | ||||||
| chr1:51930574
|
C | T | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.472+2744G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51930574 | ||||||
| chr1:51930640
|
A | G | 35 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(32): Show | 35 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(32): Show |
intron_variant | MODIFIER | c.472+2678T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51930640 | ||||||
| chr1:51930691
|
C | T | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.472+2627G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51930691 | ||||||
| chr1:51930941
|
C | T | 14 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(11): Show | 14 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.472+2377G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51930941 | ||||||
| chr1:51930965
|
C | T | 3 | a0001c0001t0010g0015a0001c0001t0044g0062a0001c0001t0045g0061 | 3 | HG00558.hp1 HG03710.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.472+2353G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51930965 | ||||||
| chr1:51930975
|
C | T | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.472+2343G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51930975 | ||||||
| chr1:51931047
|
G | T | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+2271C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51931047 | ||||||
| chr1:51931173
|
C | A | 2 | a0001c0001t0002g0017a0001c0001t0042g0027 | 2 | HG02572.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.472+2145G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51931173 | ||||||
| chr1:51931259
|
T | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+2059A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51931259 | ||||||
| chr1:51931271
|
G | T | 35 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(32): Show | 35 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(32): Show |
intron_variant | MODIFIER | c.472+2047C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51931271 | ||||||
| chr1:51931293
|
A | G | 1 | a0001c0002t0032g0048 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.472+2025T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51931293 | ||||||
| chr1:51931334
|
G | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+1984C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51931334 | ||||||
| chr1:51931574
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+1744C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51931574 | ||||||
| chr1:51931646
|
C | T | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+1672G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51931646 | ||||||
| chr1:51931698
|
CTT | C | 14 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(11): Show | 14 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.472+1618_472+1619d others(4): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51931698 | ||||||
| chr1:51932061
|
C | A | 1 | a0001c0001t0024g0054 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.472+1257G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51932061 | ||||||
| chr1:51932084
|
T | C | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.472+1234A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51932084 | ||||||
| chr1:51932552
|
C | T | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+766G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51932552 | ||||||
| chr1:51933158
|
C | A | 3 | a0001c0001t0044g0062a0001c0001t0045g0061a0001c0003t0043g0060 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.472+160G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4/4 | chr1 | 51933158 | ||||||
| chr1:51933498
|
T | C | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.348-56A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51933498 | ||||||
| chr1:51934425
|
A | G | 17 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(14): Show | 17 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(14): Show |
intron_variant | MODIFIER | c.348-983T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934425 | ||||||
| chr1:51934476
|
A | T | 3 | a0001c0002t0003g0055a0001c0002t0003g0056a0001c0002t0017g0059 | 3 | HG02895.hp2 HG02897.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.348-1034T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934476 | ||||||
| chr1:51934572
|
C | T | 4 | a0001c0001t0020g0035a0001c0001t0028g0040a0001c0001t0029g0028others(1): Show | 4 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.348-1130G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934572 | ||||||
| chr1:51934588
|
G | A | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.348-1146C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934588 | ||||||
| chr1:51934599
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.348-1157C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934599 | ||||||
| chr1:51934635
|
G | T | 1 | a0001c0001t0039g0041 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.348-1193C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934635 | ||||||
| chr1:51934700
|
C | T | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.348-1258G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934700 | ||||||
| chr1:51934762
|
C | A | 2 | a0001c0001t0035g0005a0001c0001t0036g0014 | 2 | HG00639.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.348-1320G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934762 | ||||||
| chr1:51934775
|
C | CA | 12 | a0001c0001t0008g0001a0001c0001t0012g0023a0001c0001t0015g0021others(9): Show | 12 | HG00558.hp1 HG00639.hp2 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.348-1334dupT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934775 | ||||||
| chr1:51934775
|
CA | C | 16 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(13): Show | 16 | HG00639.hp1 HG01071.hp1 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.348-1334delT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934775 | ||||||
| chr1:51934775
|
CAA | C | 6 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(3): Show | 6 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.348-1335_348-1334d others(4): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934775 | ||||||
| chr1:51934788
|
A | G | 1 | a0001c0002t0031g0038 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.348-1346T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51934788 | ||||||
| chr1:51935030
|
G | C | 3 | a0001c0001t0044g0062a0001c0001t0045g0061a0001c0003t0043g0060 | 3 | HG00558.hp1 HG03225.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.348-1588C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51935030 | ||||||
| chr1:51935106
|
A | T | 1 | a0001c0002t0018g0019 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.348-1664T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51935106 | ||||||
| chr1:51935620
|
C | T | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.347+1674G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51935620 | ||||||
| chr1:51936143
|
G | A | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.347+1151C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936143 | ||||||
| chr1:51936275
|
C | G | 1 | a0001c0002t0018g0019 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.347+1019G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936275 | ||||||
| chr1:51936357
|
T | C | 4 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(1): Show | 4 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.347+937A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936357 | ||||||
| chr1:51936420
|
T | C | 5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.347+874A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936420 | ||||||
| chr1:51936434
|
G | A | 15 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(12): Show | 15 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(12): Show |
intron_variant | MODIFIER | c.347+860C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936434 | ||||||
| chr1:51936489
|
G | A | 40 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(37): Show | 40 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.347+805C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936489 | ||||||
| chr1:51936609
|
C | T | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.347+685G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936609 | ||||||
| chr1:51936653
|
G | A | 2 | a0001c0001t0040g0036a0001c0003t0043g0060 | 2 | HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.347+641C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936653 | ||||||
| chr1:51936776
|
C | T | 2 | a0001c0001t0002g0017a0001c0001t0042g0027 | 2 | HG02572.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.347+518G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936776 | ||||||
| chr1:51936900
|
G | A | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.347+394C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936900 | ||||||
| chr1:51936961
|
G | A | 37 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(34): Show | 37 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.347+333C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51936961 | ||||||
| chr1:51937047
|
C | A | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.347+247G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51937047 | ||||||
| chr1:51937161
|
C | T | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.347+133G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51937161 | ||||||
| chr1:51937184
|
T | G | 46 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(43): Show | 46 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(43): Show |
intron_variant | MODIFIER | c.347+110A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51937184 | ||||||
| chr1:51937284
|
G | A | 46 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(43): Show | 46 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(43): Show |
intron_variant | MODIFIER | c.347+10C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 3/4 | chr1 | 51937284 | ||||||
| chr1:51937465
|
A | AAGCAGTT others(7): Show |
5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-54_229-53insAA others(12): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51937465 | ||||||
| chr1:51937604
|
T | A | 17 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(14): Show | 17 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(14): Show |
intron_variant | MODIFIER | c.229-192A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51937604 | ||||||
| chr1:51937656
|
C | A | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.229-244G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51937656 | ||||||
| chr1:51937704
|
T | C | 1 | a0001c0001t0011g0037 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.229-292A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51937704 | ||||||
| chr1:51937744
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.229-332C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51937744 | ||||||
| chr1:51937889
|
G | A | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-477C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51937889 | ||||||
| chr1:51937996
|
C | CT | 22 | a0001c0001t0008g0001a0001c0001t0009g0003a0001c0001t0010g0015others(19): Show | 22 | HG00558.hp1 HG00642.hp1 HG01167.hp2 others(19): Show |
intron_variant | MODIFIER | c.229-585dupA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51937996 | ||||||
| chr1:51937996
|
CT | C | 4 | a0001c0001t0002g0022a0001c0001t0024g0054a0001c0001t0040g0036others(1): Show | 4 | HG01167.hp1 HG02895.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.229-585delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51937996 | ||||||
| chr1:51938051
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.229-639C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51938051 | ||||||
| chr1:51938469
|
T | C | 32 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(29): Show | 32 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(29): Show |
intron_variant | MODIFIER | c.229-1057A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51938469 | ||||||
| chr1:51938521
|
ATATT | A | 40 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(37): Show | 40 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.229-1113_229-1110d others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51938521 | ||||||
| chr1:51938621
|
G | C | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-1209C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51938621 | ||||||
| chr1:51938662
|
G | T | 3 | a0001c0002t0018g0019a0001c0002t0019g0052a0001c0002t0021g0057 | 3 | HG02258.hp1 HG02717.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.229-1250C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51938662 | ||||||
| chr1:51938677
|
A | AT | 30 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(27): Show | 30 | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(27): Show |
intron_variant | MODIFIER | c.229-1266dupA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51938677 | ||||||
| chr1:51938677
|
A | ATT | 10 | a0001c0001t0045g0061a0001c0002t0003g0055a0001c0002t0003g0056others(7): Show | 10 | HG00558.hp1 HG00642.hp1 HG01167.hp2 others(7): Show |
intron_variant | MODIFIER | c.229-1267_229-1266d others(4): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51938677 | ||||||
| chr1:51939098
|
C | T | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.229-1686G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51939098 | ||||||
| chr1:51939268
|
T | C | 5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-1856A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51939268 | ||||||
| chr1:51939862
|
T | G | 1 | a0001c0001t0053g0007 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.229-2450A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51939862 | ||||||
| chr1:51940013
|
G | A | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.229-2601C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51940013 | ||||||
| chr1:51940016
|
T | C | 5 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(2): Show | 5 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-2604A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51940016 | ||||||
| chr1:51940028
|
T | A | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-2616A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51940028 | ||||||
| chr1:51940300
|
T | A | 1 | a0001c0001t0023g0045 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.229-2888A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51940300 | ||||||
| chr1:51940404
|
T | C | 1 | a0001c0001t0010g0015 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.229-2992A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51940404 | ||||||
| chr1:51940484
|
G | A | 1 | a0001c0002t0033g0058 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.229-3072C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51940484 | ||||||
| chr1:51940494
|
A | T | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-3082T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51940494 | ||||||
| chr1:51940760
|
G | A | 27 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(24): Show | 27 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(24): Show |
intron_variant | MODIFIER | c.229-3348C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51940760 | ||||||
| chr1:51941200
|
T | C | 5 | a0001c0001t0004g0025a0001c0001t0004g0043a0001c0001t0005g0024others(2): Show | 5 | HG00558.hp2 HG00609.hp2 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-3788A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51941200 | ||||||
| chr1:51941743
|
T | C | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.229-4331A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51941743 | ||||||
| chr1:51941758
|
A | G | 40 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(37): Show | 40 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.229-4346T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51941758 | ||||||
| chr1:51941828
|
A | G | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.229-4416T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51941828 | ||||||
| chr1:51941844
|
A | G | 5 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(2): Show | 5 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-4432T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51941844 | ||||||
| chr1:51941847
|
T | G | 39 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(36): Show | 39 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(36): Show |
intron_variant | MODIFIER | c.229-4435A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51941847 | ||||||
| chr1:51941970
|
C | T | 13 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(10): Show | 13 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(10): Show |
intron_variant | MODIFIER | c.229-4558G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51941970 | ||||||
| chr1:51941986
|
C | G | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.229-4574G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51941986 | ||||||
| chr1:51942017
|
G | A | 5 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(2): Show | 5 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-4605C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51942017 | ||||||
| chr1:51942110
|
C | G | 40 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(37): Show | 40 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(37): Show |
intron_variant | MODIFIER | c.229-4698G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51942110 | ||||||
| chr1:51942113
|
C | T | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-4701G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51942113 | ||||||
| chr1:51942201
|
G | A | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-4789C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51942201 | ||||||
| chr1:51942947
|
T | C | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.229-5535A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51942947 | ||||||
| chr1:51942963
|
T | G | 1 | a0001c0001t0023g0045 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.229-5551A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51942963 | ||||||
| chr1:51943018
|
C | T | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-5606G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943018 | ||||||
| chr1:51943097
|
C | T | 7 | a0001c0001t0004g0025a0001c0001t0004g0043a0001c0001t0005g0024others(4): Show | 7 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(4): Show |
intron_variant | MODIFIER | c.229-5685G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943097 | ||||||
| chr1:51943099
|
A | T | 7 | a0001c0001t0004g0025a0001c0001t0004g0043a0001c0001t0005g0024others(4): Show | 7 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(4): Show |
intron_variant | MODIFIER | c.229-5687T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943099 | ||||||
| chr1:51943105
|
C | T | 39 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(36): Show | 39 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(36): Show |
intron_variant | MODIFIER | c.229-5693G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943105 | ||||||
| chr1:51943316
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.229-5904C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943316 | ||||||
| chr1:51943385
|
AAAT | A | 7 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(4): Show | 7 | HG00639.hp2 HG02280.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.229-5976_229-5974d others(5): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943385 | ||||||
| chr1:51943394
|
T | C | 2 | a0001c0001t0016g0032a0001c0002t0025g0049 | 2 | HG01071.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.229-5982A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943394 | ||||||
| chr1:51943397
|
C | T | 7 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(4): Show | 7 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.229-5985G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943397 | ||||||
| chr1:51943414
|
ACAACAAC others(5): Show |
A | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.229-6014_229-6003d others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943414 | ||||||
| chr1:51943417
|
ACAACAAC others(2): Show |
A | 15 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(12): Show | 15 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(12): Show |
intron_variant | MODIFIER | c.229-6014_229-6006d others(11): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943417 | ||||||
| chr1:51943420
|
ACAACAC | A | 12 | a0001c0001t0010g0015a0001c0001t0035g0005a0001c0001t0036g0014others(9): Show | 12 | HG00639.hp1 HG00642.hp1 HG01167.hp2 others(9): Show |
intron_variant | MODIFIER | c.229-6014_229-6009d others(8): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943420 | ||||||
| chr1:51943426
|
C | A | 16 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(13): Show | 16 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.229-6014G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943426 | ||||||
| chr1:51943611
|
T | C | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.229-6199A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51943611 | ||||||
| chr1:51944767
|
G | A | 1 | a0001c0001t0016g0032 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.229-7355C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51944767 | ||||||
| chr1:51944916
|
A | G | 15 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(12): Show | 15 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(12): Show |
intron_variant | MODIFIER | c.229-7504T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51944916 | ||||||
| chr1:51944941
|
C | A | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-7529G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51944941 | ||||||
| chr1:51945146
|
A | T | 2 | a0001c0001t0035g0005a0001c0001t0036g0014 | 2 | HG00639.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.229-7734T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51945146 | ||||||
| chr1:51945886
|
T | C | 7 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(4): Show | 7 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.229-8474A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51945886 | ||||||
| chr1:51946170
|
C | T | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.229-8758G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51946170 | ||||||
| chr1:51946333
|
T | G | 13 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(10): Show | 13 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(10): Show |
intron_variant | MODIFIER | c.229-8921A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51946333 | ||||||
| chr1:51946576
|
C | T | 1 | a0001c0001t0038g0047 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.229-9164G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51946576 | ||||||
| chr1:51946656
|
T | C | 4 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(1): Show | 4 | HG02647.hp2 HG03130.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.229-9244A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51946656 | ||||||
| chr1:51946786
|
G | A | 1 | a0001c0001t0010g0015 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.229-9374C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51946786 | ||||||
| chr1:51946972
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.229-9560C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51946972 | ||||||
| chr1:51947394
|
CA | C | 37 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(34): Show | 37 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.229-9983delT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51947394 | ||||||
| chr1:51947757
|
G | A | 1 | a0001c0001t0036g0014 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.229-10345C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51947757 | ||||||
| chr1:51947811
|
G | A | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.229-10399C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51947811 | ||||||
| chr1:51947816
|
T | C | 5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-10404A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51947816 | ||||||
| chr1:51947902
|
A | C | 1 | a0001c0001t0034g0031 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.229-10490T>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51947902 | ||||||
| chr1:51948400
|
T | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.229-10988A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51948400 | ||||||
| chr1:51948437
|
G | A | 1 | a0001c0002t0032g0048 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.229-11025C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51948437 | ||||||
| chr1:51948484
|
G | A | 2 | a0001c0001t0035g0005a0001c0001t0036g0014 | 2 | HG00639.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.229-11072C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51948484 | ||||||
| chr1:51949194
|
C | T | 1 | a0001c0001t0052g0044 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.229-11782G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51949194 | ||||||
| chr1:51949255
|
G | C | 39 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(36): Show | 39 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(36): Show |
intron_variant | MODIFIER | c.229-11843C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51949255 | ||||||
| chr1:51949311
|
T | A | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.229-11899A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51949311 | ||||||
| chr1:51949538
|
C | A | 5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-12126G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51949538 | ||||||
| chr1:51949658
|
T | C | 39 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(36): Show | 39 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(36): Show |
intron_variant | MODIFIER | c.229-12246A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51949658 | ||||||
| chr1:51949811
|
C | T | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.229-12399G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51949811 | ||||||
| chr1:51950406
|
C | T | 46 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(43): Show | 46 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(43): Show |
intron_variant | MODIFIER | c.229-12994G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51950406 | ||||||
| chr1:51950468
|
C | T | 5 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(2): Show | 5 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-13056G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51950468 | ||||||
| chr1:51950600
|
C | CAAAG | 61 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(58): Show | 61 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.229-13192_229-1318 others(8): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51950600 | ||||||
| chr1:51950828
|
C | T | 2 | a0001c0001t0048g0012a0001c0001t0051g0013 | 2 | HG02572.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.229-13416G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51950828 | ||||||
| chr1:51951024
|
G | C | 61 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(58): Show | 61 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.229-13612C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51951024 | ||||||
| chr1:51951053
|
T | C | 3 | a0001c0002t0031g0038a0001c0002t0032g0048a0001c0002t0033g0058 | 3 | HG00642.hp1 HG01167.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.229-13641A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51951053 | ||||||
| chr1:51951131
|
CT | C | 37 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(34): Show | 37 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.229-13720delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51951131 | ||||||
| chr1:51951291
|
C | T | 1 | a0001c0002t0021g0057 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.229-13879G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51951291 | ||||||
| chr1:51951737
|
C | T | 3 | a0001c0002t0031g0038a0001c0002t0032g0048a0001c0002t0033g0058 | 3 | HG00642.hp1 HG01167.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.229-14325G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51951737 | ||||||
| chr1:51951866
|
T | C | 5 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(2): Show | 5 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-14454A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51951866 | ||||||
| chr1:51952214
|
G | A | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-14802C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51952214 | ||||||
| chr1:51952246
|
C | T | 1 | a0001c0001t0024g0054 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.229-14834G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51952246 | ||||||
| chr1:51952393
|
G | A | 5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-14981C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51952393 | ||||||
| chr1:51952449
|
G | T | 17 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(14): Show | 17 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(14): Show |
intron_variant | MODIFIER | c.229-15037C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51952449 | ||||||
| chr1:51952468
|
A | G | 37 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(34): Show | 37 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.229-15056T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51952468 | ||||||
| chr1:51952493
|
T | C | 37 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(34): Show | 37 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.229-15081A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51952493 | ||||||
| chr1:51952761
|
CT | C | 5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-15350delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51952761 | ||||||
| chr1:51953290
|
T | C | 3 | a0001c0002t0031g0038a0001c0002t0032g0048a0001c0002t0033g0058 | 3 | HG00642.hp1 HG01167.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.229-15878A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51953290 | ||||||
| chr1:51953617
|
A | G | 4 | a0001c0001t0010g0015a0001c0002t0003g0055a0001c0002t0003g0056others(1): Show | 4 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.229-16205T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51953617 | ||||||
| chr1:51953629
|
C | T | 9 | a0001c0002t0003g0055a0001c0002t0003g0056a0001c0002t0017g0059others(6): Show | 9 | HG00642.hp1 HG01167.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.229-16217G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51953629 | ||||||
| chr1:51953673
|
C | T | 4 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(1): Show | 4 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.229-16261G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51953673 | ||||||
| chr1:51953769
|
C | A | 5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-16357G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51953769 | ||||||
| chr1:51954172
|
G | A | 39 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(36): Show | 39 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(36): Show |
intron_variant | MODIFIER | c.229-16760C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51954172 | ||||||
| chr1:51954180
|
T | C | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.229-16768A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51954180 | ||||||
| chr1:51954223
|
A | G | 47 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(44): Show | 47 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(44): Show |
intron_variant | MODIFIER | c.229-16811T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51954223 | ||||||
| chr1:51954294
|
T | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.229-16882A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51954294 | ||||||
| chr1:51954515
|
C | T | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.229-17103G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51954515 | ||||||
| chr1:51954619
|
A | G | 5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-17207T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51954619 | ||||||
| chr1:51954659
|
C | A | 2 | a0001c0001t0047g0011a0001c0001t0050g0010 | 2 | HG02976.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.229-17247G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51954659 | ||||||
| chr1:51954660
|
C | A | 2 | a0001c0001t0047g0011a0001c0001t0050g0010 | 2 | HG02976.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.229-17248G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51954660 | ||||||
| chr1:51954779
|
C | A | 1 | a0001c0001t0004g0025 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.229-17367G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51954779 | ||||||
| chr1:51955109
|
G | C | 1 | a0001c0002t0032g0048 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.229-17697C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51955109 | ||||||
| chr1:51955239
|
C | A | 1 | a0001c0002t0018g0019 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.229-17827G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51955239 | ||||||
| chr1:51955615
|
G | C | 1 | a0001c0001t0005g0039 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.229-18203C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51955615 | ||||||
| chr1:51956163
|
G | A | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.229-18751C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51956163 | ||||||
| chr1:51956365
|
CT | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.229-18954delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51956365 | ||||||
| chr1:51956442
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.229-19030C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51956442 | ||||||
| chr1:51956454
|
C | G | 1 | a0001c0001t0026g0030 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.229-19042G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51956454 | ||||||
| chr1:51956557
|
C | G | 13 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(10): Show | 13 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(10): Show |
intron_variant | MODIFIER | c.229-19145G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51956557 | ||||||
| chr1:51956721
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.229-19309C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51956721 | ||||||
| chr1:51956921
|
G | A | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-19509C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51956921 | ||||||
| chr1:51956940
|
C | A | 1 | a0001c0001t0045g0061 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.229-19528G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51956940 | ||||||
| chr1:51957067
|
CTT | C | 5 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(2): Show | 5 | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.229-19657_229-1965 others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957067 | ||||||
| chr1:51957107
|
G | T | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.229-19695C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957107 | ||||||
| chr1:51957191
|
C | T | 46 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(43): Show | 46 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(43): Show |
intron_variant | MODIFIER | c.228+19699G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957191 | ||||||
| chr1:51957261
|
AT | A | 4 | a0001c0002t0001g0006a0001c0002t0001g0050a0001c0002t0001g0051others(1): Show | 4 | HG02647.hp2 HG03130.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.228+19628delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957261 | ||||||
| chr1:51957283
|
T | C | 39 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(36): Show | 39 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(36): Show |
intron_variant | MODIFIER | c.228+19607A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957283 | ||||||
| chr1:51957371
|
T | C | 46 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(43): Show | 46 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(43): Show |
intron_variant | MODIFIER | c.228+19519A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957371 | ||||||
| chr1:51957462
|
G | A | 18 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(15): Show | 18 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(15): Show |
intron_variant | MODIFIER | c.228+19428C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957462 | ||||||
| chr1:51957495
|
C | T | 7 | a0001c0001t0004g0025a0001c0001t0004g0043a0001c0001t0005g0024others(4): Show | 7 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(4): Show |
intron_variant | MODIFIER | c.228+19395G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957495 | ||||||
| chr1:51957605
|
G | T | 1 | a0001c0001t0023g0045 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.228+19285C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957605 | ||||||
| chr1:51957871
|
G | A | 1 | a0001c0001t0046g0042 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.228+19019C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957871 | ||||||
| chr1:51957923
|
C | T | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.228+18967G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51957923 | ||||||
| chr1:51958087
|
G | A | 37 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(34): Show | 37 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(34): Show |
intron_variant | MODIFIER | c.228+18803C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51958087 | ||||||
| chr1:51958269
|
C | G | 2 | a0001c0001t0035g0005a0001c0001t0036g0014 | 2 | HG00639.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.228+18621G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51958269 | ||||||
| chr1:51958286
|
C | T | 4 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(1): Show | 4 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.228+18604G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51958286 | ||||||
| chr1:51958422
|
G | A | 4 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(1): Show | 4 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.228+18468C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51958422 | ||||||
| chr1:51958449
|
C | T | 1 | a0001c0001t0023g0045 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.228+18441G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51958449 | ||||||
| chr1:51958493
|
G | A | 1 | a0001c0001t0038g0047 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.228+18397C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51958493 | ||||||
| chr1:51958572
|
C | A | 44 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0004g0025others(41): Show | 44 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(41): Show |
intron_variant | MODIFIER | c.228+18318G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51958572 | ||||||
| chr1:51958702
|
G | A | 8 | a0001c0001t0012g0023a0001c0001t0013g0026a0001c0001t0015g0021others(5): Show | 8 | HG00639.hp2 HG01071.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.228+18188C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51958702 | ||||||
| chr1:51958724
|
C | CA | 9 | a0001c0001t0004g0025a0001c0001t0004g0043a0001c0001t0005g0024others(6): Show | 9 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(6): Show |
intron_variant | MODIFIER | c.228+18165dupT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51958724 | ||||||
| chr1:51959059
|
G | A | 2 | a0001c0001t0012g0023a0001c0001t0016g0032 | 2 | HG00639.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.228+17831C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51959059 | ||||||
| chr1:51959366
|
G | A | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.228+17524C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51959366 | ||||||
| chr1:51959422
|
G | A | 1 | a0001c0001t0012g0023 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.228+17468C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51959422 | ||||||
| chr1:51959615
|
T | C | 6 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(3): Show | 6 | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.228+17275A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51959615 | ||||||
| chr1:51959796
|
G | A | 1 | a0001c0001t0022g0018 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.228+17094C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51959796 | ||||||
| chr1:51960281
|
T | C | 46 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(43): Show | 46 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(43): Show |
intron_variant | MODIFIER | c.228+16609A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51960281 | ||||||
| chr1:51960417
|
G | A | 1 | a0001c0001t0023g0045 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.228+16473C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51960417 | ||||||
| chr1:51960539
|
G | A | 1 | a0001c0002t0001g0006 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.228+16351C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51960539 | ||||||
| chr1:51960768
|
G | A | 6 | a0001c0001t0012g0023a0001c0001t0016g0032a0001c0001t0035g0005others(3): Show | 6 | HG00639.hp1 HG00639.hp2 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.228+16122C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51960768 | ||||||
| chr1:51961406
|
T | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.228+15484A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51961406 | ||||||
| chr1:51961839
|
C | T | 38 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(35): Show | 38 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.228+15051G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51961839 | ||||||
| chr1:51962479
|
C | A | 5 | a0001c0002t0003g0055a0001c0002t0003g0056a0001c0002t0017g0059others(2): Show | 5 | HG02717.hp2 HG02895.hp2 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+14411G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51962479 | ||||||
| chr1:51962963
|
A | G | 2 | a0001c0002t0018g0019a0001c0002t0021g0057 | 2 | HG02717.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.228+13927T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51962963 | ||||||
| chr1:51963356
|
T | C | 1 | a0001c0001t0044g0062 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.228+13534A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51963356 | ||||||
| chr1:51963454
|
AT | A | 2 | a0001c0001t0035g0005a0001c0001t0036g0014 | 2 | HG00639.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.228+13435delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51963454 | ||||||
| chr1:51964558
|
G | A | 1 | a0001c0001t0010g0015 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.228+12332C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51964558 | ||||||
| chr1:51964577
|
T | C | 1 | a0001c0001t0053g0007 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.228+12313A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51964577 | ||||||
| chr1:51964713
|
T | C | 1 | a0001c0001t0010g0015 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.228+12177A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51964713 | ||||||
| chr1:51964747
|
T | G | 1 | a0001c0001t0023g0045 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.228+12143A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51964747 | ||||||
| chr1:51965122
|
G | A | 3 | a0001c0001t0035g0005a0001c0001t0036g0014a0001c0002t0001g0006 | 3 | HG00639.hp1 HG02970.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.228+11768C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965122 | ||||||
| chr1:51965181
|
T | C | 2 | a0001c0001t0010g0015a0001c0001t0023g0045 | 2 | HG06807.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.228+11709A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965181 | ||||||
| chr1:51965219
|
CA | C | 22 | a0001c0001t0010g0015a0001c0001t0012g0023a0001c0001t0016g0032others(19): Show | 22 | HG00558.hp1 HG00639.hp1 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.228+11670delT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965219 | ||||||
| chr1:51965219
|
CAA | C | 26 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(23): Show | 26 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(23): Show |
intron_variant | MODIFIER | c.228+11669_228+1167 others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965219 | ||||||
| chr1:51965248
|
A | C | 7 | a0001c0001t0012g0023a0001c0001t0016g0032a0001c0001t0035g0005others(4): Show | 7 | HG00639.hp1 HG00639.hp2 HG01071.hp2 others(4): Show |
intron_variant | MODIFIER | c.228+11642T>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965248 | ||||||
| chr1:51965430
|
C | T | 2 | a0001c0001t0022g0018a0001c0001t0024g0054 | 2 | HG02976.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.228+11460G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965430 | ||||||
| chr1:51965464
|
T | C | 22 | a0001c0001t0012g0023a0001c0001t0016g0032a0001c0001t0020g0035others(19): Show | 22 | HG00639.hp1 HG00639.hp2 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.228+11426A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965464 | ||||||
| chr1:51965557
|
G | C | 10 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(7): Show | 10 | HG02486.hp2 HG02886.hp1 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.228+11333C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965557 | ||||||
| chr1:51965646
|
C | CA | 6 | a0001c0002t0001g0050a0001c0002t0001g0051a0001c0002t0001g0053others(3): Show | 6 | HG02630.hp2 HG02647.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.228+11243dupT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965646 | ||||||
| chr1:51965646
|
CA | C | 7 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0005g0039others(4): Show | 7 | HG00642.hp2 HG01167.hp1 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.228+11243delT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965646 | ||||||
| chr1:51965674
|
G | T | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.228+11216C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965674 | ||||||
| chr1:51965721
|
G | A | 10 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0027g0016others(7): Show | 10 | HG02486.hp2 HG02886.hp1 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.228+11169C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965721 | ||||||
| chr1:51965765
|
A | G | 1 | a0001c0001t0005g0024 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.228+11125T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51965765 | ||||||
| chr1:51966140
|
T | G | 22 | a0001c0001t0005g0024a0001c0001t0006g0004a0001c0001t0007g0002others(19): Show | 22 | HG00609.hp1 HG01071.hp2 HG02258.hp1 others(19): Show |
intron_variant | MODIFIER | c.228+10750A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51966140 | ||||||
| chr1:51966256
|
T | C | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.228+10634A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51966256 | ||||||
| chr1:51966815
|
TCAGAGCC others(1): Show |
T | 7 | a0001c0001t0023g0045a0001c0001t0034g0031a0001c0001t0041g0046others(4): Show | 7 | HG00609.hp1 HG02895.hp2 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.228+10067_228+1007 others(12): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51966815 | ||||||
| chr1:51967048
|
C | T | 1 | a0001c0002t0033g0058 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.228+9842G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967048 | ||||||
| chr1:51967518
|
T | TTCTTTTT others(15): Show |
5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+9371_228+9372i others(24): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967518 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(4): Show |
1 | a0001c0001t0038g0047 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.228+9358_228+9368d others(13): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(5): Show |
4 | a0001c0001t0010g0015a0001c0001t0035g0005a0001c0001t0036g0014others(1): Show | 4 | HG00639.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.228+9357_228+9368d others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(9): Show |
8 | a0001c0001t0004g0025a0001c0001t0011g0037a0001c0001t0037g0034others(5): Show | 8 | HG00558.hp2 HG00609.hp2 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.228+9353_228+9368d others(18): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(10): Show |
9 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(6): Show | 9 | HG01167.hp1 HG02258.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.228+9352_228+9368d others(19): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(11): Show |
3 | a0001c0001t0005g0024a0001c0001t0012g0023a0001c0001t0015g0021 | 3 | HG00639.hp2 HG02895.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.228+9351_228+9368d others(20): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(12): Show |
3 | a0001c0001t0005g0039a0001c0001t0016g0032a0001c0002t0031g0038 | 3 | HG00642.hp1 HG00642.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.228+9368_228+9369i others(21): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(13): Show |
1 | a0001c0001t0045g0061 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.228+9368_228+9369i others(22): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(14): Show |
4 | a0001c0001t0044g0062a0001c0002t0003g0055a0001c0002t0003g0056others(1): Show | 4 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.228+9368_228+9369i others(23): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(16): Show |
2 | a0001c0001t0041g0046a0001c0002t0018g0019 | 2 | HG03834.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.228+9368_228+9369i others(25): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(21): Show |
1 | a0001c0001t0034g0031 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.228+9368_228+9369i others(30): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | CTTTTTTT others(22): Show |
1 | a0001c0001t0023g0045 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.228+9368_228+9369i others(31): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967521
|
C | T | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+9369G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967521 | ||||||
| chr1:51967748
|
T | C | 3 | a0001c0002t0003g0055a0001c0002t0003g0056a0001c0002t0017g0059 | 3 | HG02895.hp2 HG02897.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.228+9142A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967748 | ||||||
| chr1:51967750
|
A | G | 1 | a0001c0002t0032g0048 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.228+9140T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51967750 | ||||||
| chr1:51968345
|
A | G | 2 | a0001c0001t0048g0012a0001c0001t0051g0013 | 2 | HG02572.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.228+8545T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51968345 | ||||||
| chr1:51968738
|
T | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.228+8152A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51968738 | ||||||
| chr1:51969418
|
AG | A | 4 | a0001c0001t0010g0015a0001c0001t0035g0005a0001c0001t0036g0014others(1): Show | 4 | HG00639.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.228+7471delC | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51969418 | ||||||
| chr1:51969514
|
A | T | 4 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(1): Show | 4 | HG02486.hp1 HG02717.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.228+7376T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51969514 | ||||||
| chr1:51969553
|
G | T | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+7337C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51969553 | ||||||
| chr1:51969618
|
CT | C | 23 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(20): Show | 23 | HG00558.hp2 HG00609.hp2 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.228+7271delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51969618 | ||||||
| chr1:51969866
|
A | G | 5 | a0001c0001t0041g0046a0001c0002t0003g0055a0001c0002t0003g0056others(2): Show | 5 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.228+7024T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51969866 | ||||||
| chr1:51970069
|
C | CA | 5 | a0001c0001t0041g0046a0001c0002t0003g0055a0001c0002t0003g0056others(2): Show | 5 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.228+6820dupT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51970069 | ||||||
| chr1:51970069
|
C | CAA | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+6819_228+6820d others(4): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51970069 | ||||||
| chr1:51970082
|
C | A | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+6808G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51970082 | ||||||
| chr1:51970094
|
AAAAC | A | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+6792_228+6795d others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51970094 | ||||||
| chr1:51970366
|
G | A | 2 | a0001c0001t0012g0023a0001c0001t0016g0032 | 2 | HG00639.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.228+6524C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51970366 | ||||||
| chr1:51970849
|
C | CA | 10 | a0001c0001t0011g0037a0001c0001t0023g0045a0001c0001t0034g0031others(7): Show | 10 | HG00609.hp1 HG00609.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.228+6040dupT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51970849 | ||||||
| chr1:51971010
|
CA | C | 9 | a0001c0001t0002g0020a0001c0001t0035g0005a0001c0001t0036g0014others(6): Show | 9 | HG00639.hp1 HG02897.hp2 HG02965.hp2 others(6): Show |
intron_variant | MODIFIER | c.228+5879delT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51971010 | ||||||
| chr1:51971010
|
CAA | C | 5 | a0001c0001t0010g0015a0001c0001t0046g0042a0001c0002t0001g0006others(2): Show | 5 | HG00642.hp1 HG02895.hp2 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.228+5878_228+5879d others(4): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51971010 | ||||||
| chr1:51971010
|
CAAA | C | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+5877_228+5879d others(5): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51971010 | ||||||
| chr1:51971330
|
C | T | 1 | a0001c0002t0021g0057 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.228+5560G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51971330 | ||||||
| chr1:51971334
|
C | T | 1 | a0001c0001t0049g0009 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.228+5556G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51971334 | ||||||
| chr1:51971582
|
G | A | 1 | a0001c0002t0019g0052 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.228+5308C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51971582 | ||||||
| chr1:51971583
|
C | A | 1 | a0001c0001t0010g0015 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.228+5307G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51971583 | ||||||
| chr1:51972489
|
C | CT | 11 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(8): Show | 11 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.228+4400dupA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51972489 | ||||||
| chr1:51972739
|
G | A | 4 | a0001c0001t0004g0025a0001c0001t0004g0043a0001c0001t0005g0024others(1): Show | 4 | HG01071.hp1 HG02886.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.228+4151C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51972739 | ||||||
| chr1:51972960
|
T | C | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.228+3930A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51972960 | ||||||
| chr1:51973456
|
G | GT | 23 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(20): Show | 23 | HG00558.hp2 HG00609.hp2 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.228+3433_228+3434i others(3): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51973456 | ||||||
| chr1:51973464
|
A | G | 4 | a0001c0001t0010g0015a0001c0001t0035g0005a0001c0001t0036g0014others(1): Show | 4 | HG00639.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.228+3426T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51973464 | ||||||
| chr1:51973723
|
A | T | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+3167T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51973723 | ||||||
| chr1:51973747
|
C | A | 1 | a0001c0001t0005g0039 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.228+3143G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51973747 | ||||||
| chr1:51973789
|
A | G | 5 | a0001c0001t0041g0046a0001c0002t0003g0055a0001c0002t0003g0056others(2): Show | 5 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.228+3101T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51973789 | ||||||
| chr1:51973842
|
C | T | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.228+3048G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51973842 | ||||||
| chr1:51975343
|
A | T | 1 | a0001c0002t0001g0051 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.228+1547T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51975343 | ||||||
| chr1:51975641
|
C | A | 61 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(58): Show | 61 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.228+1249G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51975641 | ||||||
| chr1:51975720
|
G | A | 23 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(20): Show | 23 | HG00558.hp2 HG00609.hp2 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.228+1170C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51975720 | ||||||
| chr1:51975760
|
G | A | 5 | a0001c0001t0041g0046a0001c0002t0003g0055a0001c0002t0003g0056others(2): Show | 5 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.228+1130C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51975760 | ||||||
| chr1:51976102
|
T | G | 1 | a0001c0002t0033g0058 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.228+788A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51976102 | ||||||
| chr1:51976151
|
A | AATTT | 14 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(11): Show | 14 | HG00558.hp1 HG02280.hp2 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.228+735_228+738dup others(4): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51976151 | ||||||
| chr1:51976151
|
A | AATTTATT others(5): Show |
5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.228+727_228+738dup others(12): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51976151 | ||||||
| chr1:51976359
|
G | T | 1 | a0001c0002t0001g0053 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.228+531C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51976359 | ||||||
| chr1:51976459
|
C | T | 1 | a0001c0002t0001g0006 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.228+431G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51976459 | ||||||
| chr1:51976503
|
T | G | 1 | a0001c0001t0011g0037 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.228+387A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | 51976503 | ||||||
| chr1:51977435
|
C | G | 1 | a0001c0001t0044g0062 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1-318G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51977435 | ||||||
| chr1:51978046
|
TTC | T | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.1-931_1-930delGA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51978046 | ||||||
| chr1:51978562
|
G | A | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1-1445C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51978562 | ||||||
| chr1:51978567
|
T | G | 5 | a0001c0001t0041g0046a0001c0002t0003g0055a0001c0002t0003g0056others(2): Show | 5 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1-1450A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51978567 | ||||||
| chr1:51978678
|
C | T | 1 | a0001c0001t0039g0041 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.1-1561G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51978678 | ||||||
| chr1:51979268
|
C | CT | 13 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(10): Show | 13 | HG00558.hp2 HG02280.hp2 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.1-2152dupA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51979268 | ||||||
| chr1:51979304
|
CT | C | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1-2188delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51979304 | ||||||
| chr1:51979340
|
G | A | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.1-2223C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51979340 | ||||||
| chr1:51979505
|
A | G | 4 | a0001c0001t0047g0011a0001c0001t0048g0012a0001c0001t0050g0010others(1): Show | 4 | HG02572.hp1 HG02976.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1-2388T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51979505 | ||||||
| chr1:51979591
|
A | T | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1-2474T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51979591 | ||||||
| chr1:51979632
|
C | T | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.1-2515G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51979632 | ||||||
| chr1:51979725
|
G | T | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1-2608C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51979725 | ||||||
| chr1:51980020
|
C | T | 2 | a0001c0001t0024g0054a0001c0002t0019g0052 | 2 | HG02258.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1-2903G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51980020 | ||||||
| chr1:51980293
|
T | C | 4 | a0001c0001t0010g0015a0001c0001t0035g0005a0001c0001t0036g0014others(1): Show | 4 | HG00639.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1-3176A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51980293 | ||||||
| chr1:51980403
|
G | A | 4 | a0001c0001t0010g0015a0001c0001t0035g0005a0001c0001t0036g0014others(1): Show | 4 | HG00639.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1-3286C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51980403 | ||||||
| chr1:51980429
|
C | CA | 4 | a0001c0001t0023g0045a0001c0001t0034g0031a0001c0001t0052g0044others(1): Show | 4 | HG00609.hp1 HG02647.hp1 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.1-3313dupT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51980429 | ||||||
| chr1:51980443
|
A | G | 5 | a0001c0001t0041g0046a0001c0002t0003g0055a0001c0002t0003g0056others(2): Show | 5 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1-3326T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51980443 | ||||||
| chr1:51980645
|
T | C | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.1-3528A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51980645 | ||||||
| chr1:51981075
|
G | A | 23 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(20): Show | 23 | HG00558.hp2 HG00609.hp2 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.1-3958C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51981075 | ||||||
| chr1:51981234
|
C | T | 56 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(53): Show | 56 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.1-4117G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51981234 | ||||||
| chr1:51981278
|
G | A | 1 | a0001c0001t0036g0014 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1-4161C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51981278 | ||||||
| chr1:51981596
|
T | C | 55 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(52): Show | 55 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(52): Show |
intron_variant | MODIFIER | c.1-4479A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51981596 | ||||||
| chr1:51981685
|
TTCAG | T | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1-4572_1-4569delCT others(2): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51981685 | ||||||
| chr1:51981840
|
C | T | 1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1-4723G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51981840 | ||||||
| chr1:51982614
|
G | A | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1-5497C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51982614 | ||||||
| chr1:51982670
|
T | C | 1 | a0001c0002t0025g0049 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1-5553A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51982670 | ||||||
| chr1:51982753
|
A | AAAT | 5 | a0001c0001t0041g0046a0001c0002t0003g0055a0001c0002t0003g0056others(2): Show | 5 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1-5639_1-5637dupAT others(1): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51982753 | ||||||
| chr1:51982753
|
A | T | 3 | a0001c0001t0024g0054a0001c0002t0019g0052a0001c0002t0021g0057 | 3 | HG02258.hp1 HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1-5636T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51982753 | ||||||
| chr1:51982756
|
T | A | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.1-5639A>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51982756 | ||||||
| chr1:51982791
|
CTAAGAAG others(3): Show |
C | 3 | a0001c0001t0024g0054a0001c0002t0019g0052a0001c0002t0021g0057 | 3 | HG02258.hp1 HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1-5684_1-5675delAA others(8): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51982791 | ||||||
| chr1:51982896
|
C | A | 4 | a0001c0001t0010g0015a0001c0001t0035g0005a0001c0001t0036g0014others(1): Show | 4 | HG00639.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1-5779G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51982896 | ||||||
| chr1:51983443
|
G | A | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1-6326C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51983443 | ||||||
| chr1:51983757
|
T | TAAGATCA others(322): Show |
4 | a0001c0001t0026g0030a0001c0001t0028g0040a0001c0001t0029g0028others(1): Show | 4 | HG02922.hp1 HG02970.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.1-6641_1-6640insTT others(327): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51983757 | ||||||
| chr1:51983757
|
T | TAAGATCA others(323): Show |
1 | a0001c0001t0020g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1-6641_1-6640insTT others(328): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51983757 | ||||||
| chr1:51983870
|
A | G | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1+6682T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51983870 | ||||||
| chr1:51983953
|
C | G | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.-1+6599G>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51983953 | ||||||
| chr1:51984023
|
G | C | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.-1+6529C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984023 | ||||||
| chr1:51984036
|
G | A | 11 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(8): Show | 11 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.-1+6516C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984036 | ||||||
| chr1:51984136
|
T | C | 61 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(58): Show | 61 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.-1+6416A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984136 | ||||||
| chr1:51984212
|
G | A | 5 | a0001c0001t0010g0015a0001c0001t0034g0031a0001c0001t0035g0005others(2): Show | 5 | HG00609.hp1 HG00639.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.-1+6340C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984212 | ||||||
| chr1:51984263
|
T | TA | 9 | a0001c0001t0010g0015a0001c0001t0044g0062a0001c0001t0045g0061others(6): Show | 9 | HG00558.hp1 HG01167.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-1+6288dupT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984263 | ||||||
| chr1:51984263
|
T | TAA | 4 | a0001c0001t0047g0011a0001c0001t0049g0009a0001c0001t0051g0013others(1): Show | 4 | HG02280.hp2 HG02717.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.-1+6287_-1+6288dup others(2): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984263 | ||||||
| chr1:51984263
|
T | TAAAAAAA others(7): Show |
1 | a0001c0001t0024g0054 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-1+6275_-1+6288dup others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984263 | ||||||
| chr1:51984263
|
TA | T | 4 | a0001c0001t0004g0043a0001c0001t0027g0016a0001c0001t0036g0014others(1): Show | 4 | HG00639.hp1 HG02886.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-1+6288delT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984263 | ||||||
| chr1:51984263
|
TAA | T | 9 | a0001c0001t0002g0017a0001c0001t0004g0025a0001c0001t0005g0024others(6): Show | 9 | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(6): Show |
intron_variant | MODIFIER | c.-1+6287_-1+6288del others(2): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984263 | ||||||
| chr1:51984263
|
TAAA | T | 12 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0011g0037others(9): Show | 12 | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(9): Show |
intron_variant | MODIFIER | c.-1+6286_-1+6288del others(3): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984263 | ||||||
| chr1:51984263
|
TAAAAAA | T | 4 | a0001c0001t0026g0030a0001c0001t0028g0040a0001c0001t0029g0028others(1): Show | 4 | HG02922.hp1 HG02970.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.-1+6283_-1+6288del others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984263 | ||||||
| chr1:51984263
|
TAAAAAAA others(6): Show |
T | 4 | a0001c0002t0003g0055a0001c0002t0003g0056a0001c0002t0017g0059others(1): Show | 4 | HG02258.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.-1+6276_-1+6288del others(13): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984263 | ||||||
| chr1:51984263
|
TAAAAAAA others(7): Show |
T | 2 | a0001c0001t0041g0046a0001c0002t0018g0019 | 2 | HG03834.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.-1+6275_-1+6288del others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984263 | ||||||
| chr1:51984371
|
T | G | 1 | a0001c0002t0032g0048 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-1+6181A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984371 | ||||||
| chr1:51984387
|
C | CT | 4 | a0001c0001t0002g0017a0001c0001t0005g0024a0001c0001t0034g0031others(1): Show | 4 | HG00609.hp1 HG02572.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-1+6164dupA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984387 | ||||||
| chr1:51984873
|
G | A | 56 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(53): Show | 56 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.-1+5679C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984873 | ||||||
| chr1:51984874
|
T | G | 50 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(47): Show | 50 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(47): Show |
intron_variant | MODIFIER | c.-1+5678A>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51984874 | ||||||
| chr1:51985134
|
C | T | 56 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(53): Show | 56 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.-1+5418G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51985134 | ||||||
| chr1:51985159
|
G | A | 4 | a0001c0001t0010g0015a0001c0001t0035g0005a0001c0001t0036g0014others(1): Show | 4 | HG00639.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.-1+5393C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51985159 | ||||||
| chr1:51985254
|
C | T | 5 | a0001c0001t0041g0046a0001c0002t0003g0055a0001c0002t0003g0056others(2): Show | 5 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-1+5298G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51985254 | ||||||
| chr1:51985556
|
C | T | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.-1+4996G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51985556 | ||||||
| chr1:51985728
|
G | T | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1+4824C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51985728 | ||||||
| chr1:51985785
|
AG | A | 2 | a0001c0001t0024g0054a0001c0002t0019g0052 | 2 | HG02258.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.-1+4766delC | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51985785 | ||||||
| chr1:51985849
|
TA | T | 11 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(8): Show | 11 | HG02280.hp2 HG02486.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.-1+4702delT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51985849 | ||||||
| chr1:51986144
|
G | T | 4 | a0001c0001t0020g0035a0001c0001t0028g0040a0001c0001t0029g0028others(1): Show | 4 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.-1+4408C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51986144 | ||||||
| chr1:51986146
|
AT | A | 46 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0004g0025others(43): Show | 46 | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(43): Show |
intron_variant | MODIFIER | c.-1+4405delA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51986146 | ||||||
| chr1:51986146
|
ATTT | A | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1+4403_-1+4405del others(3): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51986146 | ||||||
| chr1:51986243
|
C | A | 23 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(20): Show | 23 | HG00558.hp2 HG00609.hp2 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.-1+4309G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51986243 | ||||||
| chr1:51986369
|
C | T | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1+4183G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51986369 | ||||||
| chr1:51986371
|
C | T | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.-1+4181G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51986371 | ||||||
| chr1:51986439
|
C | T | 2 | a0001c0001t0040g0036a0001c0001t0052g0044 | 2 | HG02647.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-1+4113G>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51986439 | ||||||
| chr1:51986642
|
A | C | 56 | a0001c0001t0002g0017a0001c0001t0002g0020a0001c0001t0002g0022others(53): Show | 56 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.-1+3910T>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51986642 | ||||||
| chr1:51986775
|
T | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.-1+3777A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51986775 | ||||||
| chr1:51987098
|
G | C | 4 | a0001c0001t0010g0015a0001c0001t0035g0005a0001c0001t0036g0014others(1): Show | 4 | HG00639.hp1 HG02970.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.-1+3454C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51987098 | ||||||
| chr1:51987310
|
G | A | 2 | a0001c0001t0048g0012a0001c0001t0051g0013 | 2 | HG02572.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.-1+3242C>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51987310 | ||||||
| chr1:51987343
|
A | G | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1+3209T>C | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51987343 | ||||||
| chr1:51987674
|
GA | G | 2 | a0001c0001t0035g0005a0001c0001t0036g0014 | 2 | HG00639.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-1+2877delT | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51987674 | ||||||
| chr1:51988052
|
A | AT | 7 | a0001c0001t0020g0035a0001c0001t0023g0045a0001c0001t0026g0030others(4): Show | 7 | HG00609.hp1 HG02486.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.-1+2499dupA | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51988052 | ||||||
| chr1:51988052
|
ATT | A | 5 | a0001c0001t0041g0046a0001c0002t0003g0055a0001c0002t0003g0056others(2): Show | 5 | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-1+2498_-1+2499del others(2): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51988052 | ||||||
| chr1:51988581
|
A | T | 5 | a0001c0001t0020g0035a0001c0001t0026g0030a0001c0001t0028g0040others(2): Show | 5 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1+1971T>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51988581 | ||||||
| chr1:51988954
|
C | A | 3 | a0001c0001t0024g0054a0001c0002t0019g0052a0001c0002t0021g0057 | 3 | HG02258.hp1 HG02717.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-1+1598G>T | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51988954 | ||||||
| chr1:51989103
|
G | GACACACA others(6): Show |
1 | a0001c0001t0004g0043 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-1+1448_-1+1449ins others(13): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCA | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.-1+1447_-1+1448dup others(2): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCACA | 2 | a0001c0002t0033g0058a0001c0003t0043g0060 | 2 | HG01167.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-1+1445_-1+1448dup others(4): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCACACA | 5 | a0001c0001t0035g0005a0001c0001t0036g0014a0001c0001t0039g0041others(2): Show | 5 | HG00639.hp1 HG02897.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.-1+1443_-1+1448dup others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCACACAC others(1): Show |
7 | a0001c0001t0010g0015a0001c0001t0047g0011a0001c0001t0048g0012others(4): Show | 7 | HG02280.hp2 HG02572.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.-1+1441_-1+1448dup others(8): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCACACAC others(3): Show |
7 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0012g0023others(4): Show | 7 | HG00558.hp2 HG00639.hp2 HG01167.hp1 others(4): Show |
intron_variant | MODIFIER | c.-1+1439_-1+1448dup others(10): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCACACAC others(5): Show |
10 | a0001c0001t0004g0025a0001c0001t0005g0024a0001c0001t0005g0039others(7): Show | 10 | HG00609.hp2 HG00642.hp1 HG00642.hp2 others(7): Show |
intron_variant | MODIFIER | c.-1+1437_-1+1448dup others(12): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCACACAC others(7): Show |
3 | a0001c0001t0009g0003a0001c0001t0053g0007a0001c0002t0032g0048 | 3 | HG02258.hp2 HG02630.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-1+1435_-1+1448dup others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCGCACAC others(5): Show |
1 | a0001c0001t0038g0047 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-1+1448_-1+1449ins others(12): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCGCACAC others(7): Show |
4 | a0001c0001t0002g0017a0001c0001t0013g0026a0001c0001t0022g0018others(1): Show | 4 | HG02280.hp1 HG02572.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-1+1448_-1+1449ins others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCGCGCAC others(7): Show |
1 | a0001c0001t0020g0035 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-1+1448_-1+1449ins others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCGCGCAC others(9): Show |
3 | a0001c0001t0026g0030a0001c0001t0029g0028a0001c0001t0030g0029 | 3 | HG02922.hp1 NA18522.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-1+1448_-1+1449ins others(16): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
G | GCGCGCAC others(11): Show |
1 | a0001c0001t0028g0040 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-1+1448_-1+1449ins others(18): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989103
|
GCACA | G | 2 | a0001c0001t0023g0045a0001c0001t0034g0031 | 2 | HG00609.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.-1+1445_-1+1448del others(4): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989103 | ||||||
| chr1:51989133
|
A | ACACACAC others(4): Show |
1 | a0001c0001t0052g0044 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-1+1418_-1+1419ins others(11): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989133 | ||||||
| chr1:51989134
|
T | C | 1 | a0001c0001t0026g0030 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-1+1418A>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989134 | ||||||
| chr1:51989208
|
T | TGTGTGTG others(8): Show |
1 | a0001c0001t0036g0014 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-1+1343_-1+1344ins others(15): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTG | 5 | a0001c0001t0004g0043a0001c0001t0039g0041a0001c0001t0046g0042others(2): Show | 5 | HG02280.hp2 HG02897.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1+1342_-1+1343dup others(2): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTGTG | 8 | a0001c0001t0007g0002a0001c0001t0009g0003a0001c0001t0023g0045others(5): Show | 8 | HG00558.hp1 HG02258.hp2 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.-1+1340_-1+1343dup others(4): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTGTGTG | 2 | a0001c0001t0006g0004a0001c0002t0025g0049 | 2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-1+1338_-1+1343dup others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTGTGTGT others(7): Show |
1 | a0001c0003t0043g0060 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-1+1343_-1+1344ins others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTGTGTGT others(1): Show |
4 | a0001c0001t0050g0010a0001c0002t0001g0050a0001c0002t0001g0051others(1): Show | 4 | HG02258.hp1 HG02647.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.-1+1336_-1+1343dup others(8): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTGTGTGT others(3): Show |
5 | a0001c0001t0024g0054a0001c0001t0047g0011a0001c0001t0048g0012others(2): Show | 5 | HG02572.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-1+1334_-1+1343dup others(10): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTGTGTGT others(5): Show |
3 | a0001c0001t0044g0062a0001c0002t0003g0055a0001c0002t0003g0056 | 3 | HG02895.hp2 HG02897.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.-1+1332_-1+1343dup others(12): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTGTGTGT others(7): Show |
2 | a0001c0002t0021g0057a0001c0002t0033g0058 | 2 | HG01167.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.-1+1330_-1+1343dup others(14): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTGTGTGT others(11): Show |
1 | a0001c0002t0017g0059 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-1+1326_-1+1343dup others(18): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
T | TTGTGTGT others(15): Show |
1 | a0001c0001t0010g0015 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-1+1322_-1+1343dup others(22): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
TTG | T | 14 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0004g0025others(11): Show | 14 | HG00639.hp2 HG01071.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.-1+1342_-1+1343del others(2): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989208
|
TTGTGTG | T | 3 | a0001c0001t0002g0017a0001c0001t0022g0018a0001c0001t0027g0016 | 3 | HG02572.hp2 HG02886.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.-1+1338_-1+1343del others(6): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989208 | ||||||
| chr1:51989743
|
G | T | 15 | a0001c0001t0006g0004a0001c0001t0007g0002a0001c0001t0008g0001others(12): Show | 15 | HG00639.hp1 HG02280.hp2 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.-1+809C>A | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989743 | ||||||
| chr1:51989853
|
G | C | 2 | a0001c0001t0044g0062a0001c0001t0045g0061 | 2 | HG00558.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.-1+699C>G | RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | 51989853 |