Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 101060389 |
| ensemblid | ENSG00000274419.7 |
| hgncid | 28944 |
| symbol | TBC1D3D |
| name | TBC1 domain family member 3D |
| refseq_nuc | NM_001291465.2 |
| refseq_prot | NP_001278394.1 |
| ensembl_nuc | ENST00000616101.5 |
| ensembl_prot | ENSP00000478426.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 38003976 |
| end | 38014908 |
| strand | + |
| ver | v1.2 |
| region | chr17:38003976-38014908 |
| region5000 | chr17:37998976-38019908 |
| regionname0 | TBC1D3D_chr17_38003976_38014908 |
| regionname5000 | TBC1D3D_chr17_37998976_38019908 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 549 | 24 | 7 | 5 | 7 | 1 | 4 | 5 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0002 | 0/0 | 549 | 15 | 8 | 1 | 4 | 1 | 1 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0003 | 0/0 | 549 | 8 | 2 | 0 | 4 | 0 | 2 | 3 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0004 | 0/0 | 549 | 7 | 4 | 2 | 0 | 0 | 1 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0005 | 0/0 | 549 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0006 | 0/0 | 549 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0007 | 0/0 | 549 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0008 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0009 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0010 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0011 | 0/0 | 549 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0012 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0013 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0014 | 0/0 | 549 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| a0015 | 0/0 | 549 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | MDVVE others(544): Show |
chr17 | 37998976 | 38019908 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1647 | 24 | 7 | 5 | 7 | 1 | 4 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0002c0002 | 0/0 | 1647 | 8 | 4 | 1 | 3 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0002c0004 | 0/0 | 1647 | 5 | 2 | 0 | 1 | 1 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0002c0011 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0002c0013 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0003c0003 | 0/0 | 1647 | 6 | 1 | 0 | 3 | 0 | 2 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0003c0016 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0003c0020 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0004c0005 | 0/0 | 1647 | 3 | 2 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0004c0006 | 0/0 | 1647 | 3 | 1 | 1 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0004c0010 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0005c0007 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0006c0015 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0007c0018 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0008c0012 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0009c0014 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0010c0017 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0011c0021 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0012c0009 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0013c0008 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0014c0019 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 | ||
| a0015c0022 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | ATGGA others(1642): Show |
chr17 | 37998976 | 38019908 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2121 | 14 | 5 | 2 | 5 | 1 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0001c0001t0002 | 0/0 | 2121 | 9 | 1 | 3 | 2 | 0 | 3 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0001c0001t0004 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0002c0002t0001 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0002c0002t0002 | 0/0 | 2121 | 3 | 0 | 0 | 3 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0002c0002t0003 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0002c0002t0005 | 0/0 | 2121 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0002c0002t0006 | 0/0 | 2121 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0002c0004t0001 | 0/0 | 2121 | 4 | 2 | 0 | 0 | 1 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0002c0004t0002 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0002c0011t0003 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0002c0013t0004 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0003c0003t0001 | 0/0 | 2121 | 2 | 1 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0003c0003t0002 | 0/0 | 2121 | 4 | 0 | 0 | 3 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0003c0016t0007 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0003c0020t0005 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0004c0005t0003 | 0/0 | 2121 | 3 | 2 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0004c0006t0001 | 0/0 | 2121 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0004c0006t0002 | 0/0 | 2121 | 2 | 1 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0004c0010t0003 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0005c0007t0003 | 0/0 | 2121 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0006c0015t0004 | 0/0 | 2121 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0007c0018t0001 | 0/0 | 2121 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0008c0012t0002 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0009c0014t0004 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0010c0017t0008 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0011c0021t0001 | 0/0 | 2121 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0012c0009t0009 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0013c0008t0005 | 0/0 | 2121 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0014c0019t0001 | 0/0 | 2121 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| a0015c0022t0002 | 0/0 | 2121 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | GAATG others(2116): Show |
chr17 | 37998976 | 38019908 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0004 | 0/0 | 2 | 1 | 0 | 0 | 1 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0002g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0002g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0002g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0002g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0002g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0001c0001t0004g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0002t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0002t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0002t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0002t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0002t0003g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0002t0005g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0002t0006g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0004t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0004t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0004t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0004t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0004t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0011t0003g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0002c0013t0004g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0003c0003t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0003c0003t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0003c0003t0002g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0003c0003t0002g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0003c0003t0002g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0003c0016t0007g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0003c0020t0005g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0004c0005t0003g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0004c0005t0003g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0004c0005t0003g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0004c0006t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0004c0006t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0004c0006t0002g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0004c0010t0003g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0005c0007t0003g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0005c0007t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0006c0015t0004g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0007c0018t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0008c0012t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0009c0014t0004g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0010c0017t0008g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0011c0021t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0012c0009t0009g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0013c0008t0005g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0014c0019t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| a0015c0022t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | CHS | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG00558 | hp2 | a0002 | c0002 | t0002 | g0022 | EAS | CHS | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG00673 | hp1 | a0002 | c0002 | t0002 | g0021 | EAS | CHS | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG00673 | hp2 | a0002 | c0004 | t0002 | g0017 | EAS | CHS | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG01109 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG01109 | hp2 | a0006 | c0015 | t0004 | g0012 | AMR | PUR | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG01169 | hp2 | a0002 | c0002 | t0005 | g0041 | AMR | PUR | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG01192 | hp1 | a0004 | c0005 | t0003 | g0009 | AMR | PUR | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0053 | AMR | PUR | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG01261 | hp1 | a0001 | c0001 | t0002 | g0030 | AMR | CLM | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG01261 | hp2 | a0004 | c0006 | t0001 | g0036 | AMR | CLM | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02004 | hp1 | a0007 | c0018 | t0001 | g0059 | AMR | PEL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02004 | hp2 | a0001 | c0001 | t0002 | g0001 | AMR | PEL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | ACB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02055 | hp2 | a0002 | c0004 | t0001 | g0024 | AFR | ACB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | KHV | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02074 | hp2 | a0003 | c0003 | t0002 | g0002 | EAS | KHV | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02257 | hp1 | a0004 | c0006 | t0002 | g0025 | AFR | ACB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02257 | hp2 | a0008 | c0012 | t0002 | g0016 | AFR | ACB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02280 | hp1 | a0003 | c0003 | t0001 | g0035 | AFR | ACB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02280 | hp2 | a0009 | c0014 | t0004 | g0011 | AFR | ACB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02572 | hp1 | a0010 | c0017 | t0008 | g0055 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02572 | hp2 | a0002 | c0004 | t0001 | g0040 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02602 | hp1 | a0011 | c0021 | t0001 | g0046 | SAS | PJL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02602 | hp2 | a0001 | c0001 | t0002 | g0028 | SAS | PJL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02615 | hp1 | a0005 | c0007 | t0003 | g0014 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02615 | hp2 | a0005 | c0007 | t0003 | g0013 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02622 | hp1 | a0001 | c0001 | t0004 | g0010 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02622 | hp2 | a0004 | c0005 | t0003 | g0015 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02630 | hp1 | a0001 | c0001 | t0002 | g0029 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02683 | hp1 | a0002 | c0004 | t0001 | g0023 | SAS | PJL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02683 | hp2 | a0003 | c0003 | t0002 | g0031 | SAS | PJL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02886 | hp1 | a0004 | c0005 | t0003 | g0006 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02886 | hp2 | a0002 | c0011 | t0003 | g0007 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02895 | hp1 | a0002 | c0013 | t0004 | g0018 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02895 | hp2 | a0012 | c0009 | t0009 | g0047 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0057 | AFR | ESN | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03139 | hp2 | a0002 | c0002 | t0006 | g0003 | AFR | ESN | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03492 | hp1 | a0004 | c0006 | t0002 | g0049 | SAS | PJL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03492 | hp2 | a0001 | c0001 | t0002 | g0032 | SAS | PJL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03540 | hp1 | a0003 | c0020 | t0005 | g0008 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03540 | hp2 | a0002 | c0002 | t0003 | g0058 | AFR | GWD | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03579 | hp1 | a0002 | c0002 | t0001 | g0037 | AFR | MSL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03579 | hp2 | a0013 | c0008 | t0005 | g0060 | AFR | MSL | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03927 | hp1 | a0014 | c0019 | t0001 | g0033 | SAS | BEB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG03927 | hp2 | a0001 | c0001 | t0002 | g0027 | SAS | BEB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG04204 | hp1 | a0003 | c0003 | t0001 | g0039 | SAS | STU | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0044 | SAS | STU | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0056 | AFR | YRI | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18906 | hp2 | a0002 | c0002 | t0006 | g0003 | AFR | YRI | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18960 | hp2 | a0003 | c0003 | t0002 | g0002 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18969 | hp1 | a0015 | c0022 | t0002 | g0038 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18979 | hp1 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18979 | hp2 | a0003 | c0003 | t0002 | g0019 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18998 | hp1 | a0003 | c0016 | t0007 | g0002 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA18998 | hp2 | a0002 | c0002 | t0002 | g0042 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA19060 | hp1 | a0001 | c0001 | t0002 | g0048 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0004 | EUR | TSI | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| NA20752 | hp2 | a0002 | c0004 | t0001 | g0026 | EUR | TSI | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | ACB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| HG02109 | hp2 | a0004 | c0010 | t0003 | g0005 | AFR | ACB | TBC1D3D_chr17_37998976_38019908 | TBC1D3D | chr17 | 37998976 | 38019908 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38005580 | C | T | 1 | a0015 | 1 | NA18969.hp1 | missense_variant | MODERATE | c.20C>T | p.Ala7Val | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 2/14 | 177/2122 | 20/1650 | 7/549 | chr17 | 38005580 | |||
| chr17:38005834 | C | G | 1 | a0011 | 1 | HG02602.hp1 | missense_variant | MODERATE | c.112C>G | p.Pro38Ala | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/14 | 269/2122 | 112/1650 | 38/549 | chr17 | 38005834 | |||
| chr17:38008280 | C | T | 9 | a0001 a0003 a0006 others(6): Show |
39 | HG00558.hp1 HG01109.hp1 HG01109.hp2 others(36): Show |
missense_variant | MODERATE | c.350C>T | p.Thr117Ile | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 6/14 | 507/2122 | 350/1650 | 117/549 | chr17 | 38008280 | |||
| chr17:38008282 | G | C | 1 | a0013 | 1 | HG03579.hp2 | missense_variant | MODERATE | c.352G>C | p.Glu118Gln | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 6/14 | 509/2122 | 352/1650 | 118/549 | chr17 | 38008282 | |||
| chr17:38008704 | G | A | 3 | a0006 a0009 a0012 |
3 | HG01109.hp2 HG02280.hp2 HG02895.hp2 |
missense_variant | MODERATE | c.445G>A | p.Val149Ile | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/14 | 602/2122 | 445/1650 | 149/549 | chr17 | 38008704 | |||
| chr17:38008730 | A | G | 3 | a0006 a0009 a0012 |
3 | HG01109.hp2 HG02280.hp2 HG02895.hp2 |
missense_variant | MODERATE | c.471A>G | p.Ile157Met | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/14 | 628/2122 | 471/1650 | 157/549 | chr17 | 38008730 | |||
| chr17:38011451 | G | A | 2 | a0006 a0009 |
2 | HG01109.hp2 HG02280.hp2 |
missense_variant | MODERATE | c.688G>A | p.Gly230Arg | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/14 | 845/2122 | 688/1650 | 230/549 | chr17 | 38011451 | |||
| chr17:38012490 | G | A | 1 | a0012 | 1 | HG02895.hp2 | missense_variant | MODERATE | c.880G>A | p.Glu294Lys | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/14 | 1037/2122 | 880/1650 | 294/549 | chr17 | 38012490 | |||
| chr17:38013040 | C | A | 9 | a0001 a0004 a0005 others(6): Show |
39 | HG00558.hp1 HG01109.hp1 HG01169.hp1 others(36): Show |
missense_variant | MODERATE | c.1060C>A | p.Gln354Lys | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/14 | 1217/2122 | 1060/1650 | 354/549 | chr17 | 38013040 | |||
| chr17:38014046 | C | T | 1 | a0014 | 1 | HG03927.hp1 | missense_variant | MODERATE | c.1103C>T | p.Ser368Leu | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1260/2122 | 1103/1650 | 368/549 | chr17 | 38014046 | |||
| chr17:38014064 | C | T | 1 | a0007 | 1 | HG02004.hp1 | missense_variant | MODERATE | c.1121C>T | p.Pro374Leu | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1278/2122 | 1121/1650 | 374/549 | chr17 | 38014064 | |||
| chr17:38014138 | C | T | 1 | a0010 | 1 | HG02572.hp1 | missense_variant | MODERATE | c.1195C>T | p.Arg399Trp | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1352/2122 | 1195/1650 | 399/549 | chr17 | 38014138 | |||
| chr17:38014208 | G | A | 1 | a0005 | 2 | HG02615.hp1 HG02615.hp2 |
missense_variant | MODERATE | c.1265G>A | p.Arg422Gln | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1422/2122 | 1265/1650 | 422/549 | chr17 | 38014208 | |||
| chr17:38014229 | G | A | 1 | a0009 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.1286G>A | p.Gly429Asp | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1443/2122 | 1286/1650 | 429/549 | chr17 | 38014229 | |||
| chr17:38014250 | C | T | 1 | a0012 | 1 | HG02895.hp2 | missense_variant | MODERATE | c.1307C>T | p.Pro436Leu | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1464/2122 | 1307/1650 | 436/549 | chr17 | 38014250 | |||
| chr17:38014259 | C | T | 1 | a0010 | 1 | HG02572.hp1 | missense_variant | MODERATE | c.1316C>T | p.Ala439Val | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1473/2122 | 1316/1650 | 439/549 | chr17 | 38014259 | |||
| chr17:38014312 | C | T | 1 | a0008 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.1369C>T | p.Arg457Cys | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1526/2122 | 1369/1650 | 457/549 | chr17 | 38014312 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38008716 | T | C | 1 | a0004c0010 | 1 | HG02109.hp2 | synonymous_variant | LOW | c.457T>C | p.Leu153Leu | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/14 | 614/2122 | 457/1650 | 153/549 | chr17 | 38008716 | |||
| chr17:38010047 | T | C | 4 | a0002c0011 a0004c0005 a0004c0010 others(1): Show |
7 | HG01192.hp1 HG02109.hp2 HG02615.hp1 others(4): Show |
synonymous_variant | LOW | c.540T>C | p.Tyr180Tyr | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 8/14 | 697/2122 | 540/1650 | 180/549 | chr17 | 38010047 | |||
| chr17:38010632 | C | T | 1 | a0003c0020 | 1 | HG03540.hp1 | synonymous_variant | LOW | c.582C>T | p.Ala194Ala | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/14 | 739/2122 | 582/1650 | 194/549 | chr17 | 38010632 | |||
| chr17:38010710 | C | T | 1 | a0002c0004 | 5 | HG00673.hp2 HG02055.hp2 HG02572.hp2 others(2): Show |
synonymous_variant | LOW | c.660C>T | p.Ser220Ser | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/14 | 817/2122 | 660/1650 | 220/549 | chr17 | 38010710 | |||
| chr17:38011942 | G | A | 1 | a0003c0016 | 1 | NA18998.hp1 | synonymous_variant | LOW | c.795G>A | p.Pro265Pro | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 11/14 | 952/2122 | 795/1650 | 265/549 | chr17 | 38011942 | |||
| chr17:38014188 | C | G | 1 | a0002c0013 | 1 | HG02895.hp1 | synonymous_variant | LOW | c.1245C>G | p.Pro415Pro | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1402/2122 | 1245/1650 | 415/549 | chr17 | 38014188 | |||
| chr17:38014248 | C | T | 1 | a0012c0009 | 1 | HG02895.hp2 | synonymous_variant | LOW | c.1305C>T | p.Ser435Ser | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 1462/2122 | 1305/1650 | 435/549 | chr17 | 38014248 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38004013 | T | C | 17 | a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(14): Show |
48 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(45): Show |
5_prime_UTR_variant | MODIFIER | c.-120T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/14 | 1548 | chr17 | 38004013 | ||||||
| chr17:38004018 | C | G | 9 | a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(6): Show |
26 | HG00558.hp1 HG01169.hp1 HG01192.hp2 others(23): Show |
5_prime_UTR_variant | MODIFIER | c.-115C>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/14 | 1543 | chr17 | 38004018 | ||||||
| chr17:38004101 | C | T | 27 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show |
61 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(58): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-32C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/14 | chr17 | 38004101 | |||||||
| chr17:38014774 | G | A | 20 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show |
52 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(49): Show |
3_prime_UTR_variant | MODIFIER | c.*181G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 181 | chr17 | 38014774 | ||||||
| chr17:38014775 | G | C | 1 | a0003c0016t0007 | 1 | NA18998.hp1 | 3_prime_UTR_variant | MODIFIER | c.*182G>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 182 | chr17 | 38014775 | ||||||
| chr17:38014782 | C | T | 1 | a0010c0017t0008 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*189C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 189 | chr17 | 38014782 | ||||||
| chr17:38014797 | C | T | 1 | a0012c0009t0009 | 1 | HG02895.hp2 | 3_prime_UTR_variant | MODIFIER | c.*204C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 14/14 | 204 | chr17 | 38014797 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38004138 | G | A | 2 | a0004c0005t0003g0006 a0004c0010t0003g0005 |
2 | HG02109.hp2 HG02886.hp1 |
splice_region_variant&intron_variant | LOW | c.-2+7G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38004138 | |||||||
| chr17:38004390 | C | T | 1 | a0013c0008t0005g0060 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-2+259C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38004390 | |||||||
| chr17:38004527 | CAGAGCCA others(7): Show |
C | 5 | a0002c0011t0003g0007 a0003c0020t0005g0008 a0004c0005t0003g0006 others(2): Show |
5 | HG01192.hp1 HG02109.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.-2+410_-2+423delTA others(12): Show |
TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | 38004527 | ||||||
| chr17:38004563 | C | G | 1 | a0007c0018t0001g0059 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.-2+432C>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38004563 | |||||||
| chr17:38004649 | GGGGGAGC others(11): Show |
G | 1 | a0001c0001t0004g0010 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-2+522_-2+539delGA others(16): Show |
TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | 38004649 | ||||||
| chr17:38004698 | A | G | 1 | a0002c0002t0003g0058 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-2+567A>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38004698 | |||||||
| chr17:38004876 | C | T | 3 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0010c0017t0008g0055 |
3 | HG02572.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.-1-684C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38004876 | |||||||
| chr17:38004919 | C | T | 9 | a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0051 others(6): Show |
10 | HG00558.hp1 HG01192.hp2 HG02004.hp1 others(7): Show |
intron_variant | MODIFIER | c.-1-641C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38004919 | |||||||
| chr17:38004987 | T | C | 10 | a0002c0011t0003g0007 a0003c0020t0005g0008 a0004c0005t0003g0006 others(7): Show |
10 | HG01109.hp2 HG02109.hp2 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.-1-573T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38004987 | |||||||
| chr17:38005057 | T | A | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.-1-503T>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38005057 | |||||||
| chr17:38005106 | G | A | 2 | a0002c0011t0003g0007 a0004c0005t0003g0009 |
2 | HG01192.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-1-454G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38005106 | |||||||
| chr17:38005142 | G | T | 1 | a0003c0020t0005g0008 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-1-418G>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38005142 | |||||||
| chr17:38005264 | A | G | 1 | a0002c0002t0003g0058 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-1-296A>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38005264 | |||||||
| chr17:38005304 | T | C | 1 | a0008c0012t0002g0016 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-1-256T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38005304 | |||||||
| chr17:38005361 | T | C | 18 | a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0051 others(15): Show |
19 | HG00558.hp1 HG00673.hp2 HG01192.hp1 others(16): Show |
intron_variant | MODIFIER | c.-1-199T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38005361 | |||||||
| chr17:38005432 | T | G | 1 | a0013c0008t0005g0060 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-1-128T>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38005432 | |||||||
| chr17:38005498 | G | A | 1 | a0003c0003t0002g0019 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.-1-62G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38005498 | |||||||
| chr17:38005529 | G | A | 45 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(42): Show |
48 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.-1-31G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 1/13 | chr17 | 38005529 | |||||||
| chr17:38005710 | A | G | 1 | a0002c0004t0001g0040 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.72+78A>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 2/13 | chr17 | 38005710 | |||||||
| chr17:38005908 | T | G | 1 | a0001c0001t0004g0010 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.158+28T>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38005908 | |||||||
| chr17:38005962 | C | T | 2 | a0003c0003t0001g0039 a0006c0015t0004g0012 |
2 | HG01109.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.158+82C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38005962 | |||||||
| chr17:38006043 | G | C | 1 | a0002c0013t0004g0018 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.158+163G>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006043 | |||||||
| chr17:38006131 | T | C | 1 | a0004c0005t0003g0009 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.158+251T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006131 | |||||||
| chr17:38006137 | C | T | 1 | a0015c0022t0002g0038 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.158+257C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006137 | |||||||
| chr17:38006238 | A | G | 60 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(57): Show |
63 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.158+358A>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006238 | |||||||
| chr17:38006413 | G | A | 1 | a0001c0001t0002g0048 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.158+533G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006413 | |||||||
| chr17:38006458 | G | A | 20 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0002g0001 others(17): Show |
22 | HG00558.hp2 HG00673.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.158+578G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006458 | |||||||
| chr17:38006500 | G | A | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.158+620G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006500 | |||||||
| chr17:38006598 | C | G | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.159-566C>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006598 | |||||||
| chr17:38006612 | A | C | 1 | a0012c0009t0009g0047 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.159-552A>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006612 | |||||||
| chr17:38006629 | T | C | 43 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(40): Show |
46 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.159-535T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006629 | |||||||
| chr17:38006691 | T | C | 1 | a0012c0009t0009g0047 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.159-473T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006691 | |||||||
| chr17:38006763 | C | T | 1 | a0012c0009t0009g0047 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.159-401C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006763 | |||||||
| chr17:38006890 | CGGGCAGC others(6): Show |
C | 1 | a0004c0005t0003g0009 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.159-265_159-253del others(13): Show |
TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | 38006890 | ||||||
| chr17:38006926 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.159-238G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006926 | |||||||
| chr17:38006989 | C | G | 1 | a0011c0021t0001g0046 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.159-175C>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006989 | |||||||
| chr17:38006999 | G | A | 2 | a0001c0001t0004g0010 a0004c0005t0003g0015 |
2 | HG02622.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.159-165G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38006999 | |||||||
| chr17:38007009 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.159-155C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38007009 | |||||||
| chr17:38007127 | C | T | 2 | a0001c0001t0001g0056 a0001c0001t0001g0057 |
2 | HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.159-37C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 3/13 | chr17 | 38007127 | |||||||
| chr17:38007277 | G | A | 2 | a0001c0001t0004g0010 a0004c0005t0003g0015 |
2 | HG02622.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.198+74G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 4/13 | chr17 | 38007277 | |||||||
| chr17:38007384 | A | G | 2 | a0005c0007t0003g0013 a0005c0007t0003g0014 |
2 | HG02615.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.198+181A>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 4/13 | chr17 | 38007384 | |||||||
| chr17:38007633 | C | T | 1 | a0002c0011t0003g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.199-53C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 4/13 | chr17 | 38007633 | |||||||
| chr17:38007852 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.279+86G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 5/13 | chr17 | 38007852 | |||||||
| chr17:38007898 | G | A | 10 | a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0042 others(7): Show |
10 | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(7): Show |
intron_variant | MODIFIER | c.279+132G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 5/13 | chr17 | 38007898 | |||||||
| chr17:38007997 | T | G | 35 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(32): Show |
38 | HG00558.hp1 HG00673.hp1 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.280-213T>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 5/13 | chr17 | 38007997 | |||||||
| chr17:38008387 | G | A | 1 | a0013c0008t0005g0060 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.387+70G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 6/13 | chr17 | 38008387 | |||||||
| chr17:38008407 | C | G | 3 | a0001c0001t0001g0004 a0001c0001t0001g0053 a0002c0004t0001g0026 |
4 | HG01192.hp2 HG02630.hp2 NA20752.hp1 others(1): Show |
intron_variant | MODIFIER | c.387+90C>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 6/13 | chr17 | 38008407 | |||||||
| chr17:38008766 | C | T | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.497+10C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38008766 | |||||||
| chr17:38009059 | C | T | 1 | a0013c0008t0005g0060 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.497+303C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009059 | |||||||
| chr17:38009087 | G | A | 2 | a0001c0001t0001g0034 a0014c0019t0001g0033 |
2 | HG02109.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.497+331G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009087 | |||||||
| chr17:38009091 | CA | C | 2 | a0002c0002t0002g0042 a0010c0017t0008g0055 |
2 | HG02572.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.497+336delA | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009091 | |||||||
| chr17:38009092 | A | C | 57 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(54): Show |
60 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(57): Show |
intron_variant | MODIFIER | c.497+336A>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009092 | |||||||
| chr17:38009095 | C | G | 16 | a0002c0002t0002g0022 a0002c0002t0002g0042 a0002c0004t0001g0023 others(13): Show |
16 | HG00558.hp2 HG00673.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.497+339C>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009095 | |||||||
| chr17:38009162 | G | A | 1 | a0002c0002t0003g0058 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.497+406G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009162 | |||||||
| chr17:38009199 | C | A | 5 | a0002c0013t0004g0018 a0003c0020t0005g0008 a0006c0015t0004g0012 others(2): Show |
5 | HG01109.hp2 HG02280.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.497+443C>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009199 | |||||||
| chr17:38009304 | G | A | 1 | a0002c0013t0004g0018 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.497+548G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009304 | |||||||
| chr17:38009332 | G | A | 1 | a0004c0010t0003g0005 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.497+576G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009332 | |||||||
| chr17:38009517 | A | C | 40 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(37): Show |
43 | HG00558.hp1 HG00673.hp1 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.498-488A>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009517 | |||||||
| chr17:38009553 | C | G | 1 | a0012c0009t0009g0047 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.498-452C>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009553 | |||||||
| chr17:38009593 | G | A | 1 | a0003c0020t0005g0008 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.498-412G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009593 | |||||||
| chr17:38009617 | G | T | 2 | a0003c0020t0005g0008 a0012c0009t0009g0047 |
2 | HG02895.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.498-388G>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009617 | |||||||
| chr17:38009686 | G | A | 1 | a0005c0007t0003g0013 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.498-319G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009686 | |||||||
| chr17:38009702 | C | T | 6 | a0001c0001t0004g0010 a0004c0005t0003g0006 a0004c0005t0003g0015 others(3): Show |
6 | HG01109.hp2 HG02280.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.498-303C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009702 | |||||||
| chr17:38009761 | G | GAAAA | 4 | a0002c0002t0002g0042 a0002c0004t0001g0040 a0006c0015t0004g0012 others(1): Show |
4 | HG01109.hp2 HG02280.hp2 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.498-237_498-234dup others(4): Show |
TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 38009761 | ||||||
| chr17:38009761 | G | GAAAAA | 40 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(37): Show |
43 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(40): Show |
intron_variant | MODIFIER | c.498-238_498-234dup others(5): Show |
TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 38009761 | ||||||
| chr17:38009761 | G | GAAAAAA | 6 | a0001c0001t0002g0027 a0001c0001t0002g0043 a0004c0005t0003g0009 others(3): Show |
6 | HG01192.hp1 HG02572.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.498-239_498-234dup others(6): Show |
TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 38009761 | ||||||
| chr17:38009772 | T | A | 1 | a0003c0020t0005g0008 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.498-233T>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009772 | |||||||
| chr17:38009800 | T | G | 1 | a0001c0001t0004g0010 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.498-205T>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009800 | |||||||
| chr17:38009859 | C | T | 1 | a0001c0001t0004g0010 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.498-146C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009859 | |||||||
| chr17:38009863 | A | G | 4 | a0002c0002t0003g0058 a0004c0010t0003g0005 a0012c0009t0009g0047 others(1): Show |
4 | HG02109.hp2 HG02895.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.498-142A>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009863 | |||||||
| chr17:38009952 | A | G | 1 | a0004c0005t0003g0009 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.498-53A>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 7/13 | chr17 | 38009952 | |||||||
| chr17:38010141 | C | A | 57 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(54): Show |
60 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(57): Show |
intron_variant | MODIFIER | c.546+88C>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 8/13 | chr17 | 38010141 | |||||||
| chr17:38010248 | A | G | 3 | a0004c0005t0003g0006 a0005c0007t0003g0013 a0005c0007t0003g0014 |
3 | HG02615.hp1 HG02615.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.546+195A>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 8/13 | chr17 | 38010248 | |||||||
| chr17:38010262 | T | C | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.546+209T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 8/13 | chr17 | 38010262 | |||||||
| chr17:38010317 | C | T | 1 | a0002c0002t0003g0058 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.546+264C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 8/13 | chr17 | 38010317 | |||||||
| chr17:38010505 | G | A | 1 | a0002c0013t0004g0018 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.547-92G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 8/13 | chr17 | 38010505 | |||||||
| chr17:38010842 | G | A | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.667+125G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38010842 | |||||||
| chr17:38010906 | C | G | 30 | a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0050 others(27): Show |
32 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(29): Show |
intron_variant | MODIFIER | c.667+189C>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38010906 | |||||||
| chr17:38010985 | T | C | 1 | a0005c0007t0003g0014 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.667+268T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38010985 | |||||||
| chr17:38011043 | T | C | 3 | a0004c0005t0003g0006 a0005c0007t0003g0013 a0005c0007t0003g0014 |
3 | HG02615.hp1 HG02615.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.667+326T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38011043 | |||||||
| chr17:38011068 | T | C | 19 | a0001c0001t0001g0050 a0001c0001t0002g0030 a0001c0001t0002g0032 others(16): Show |
20 | HG00558.hp2 HG00673.hp1 HG01192.hp1 others(17): Show |
intron_variant | MODIFIER | c.667+351T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38011068 | |||||||
| chr17:38011074 | G | A | 1 | a0002c0011t0003g0007 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.667+357G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38011074 | |||||||
| chr17:38011085 | G | C | 1 | a0014c0019t0001g0033 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.668-346G>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38011085 | |||||||
| chr17:38011115 | T | C | 40 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(37): Show |
43 | HG00558.hp1 HG00673.hp1 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.668-316T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38011115 | |||||||
| chr17:38011143 | C | T | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.668-288C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38011143 | |||||||
| chr17:38011156 | G | A | 1 | a0002c0004t0001g0024 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.668-275G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38011156 | |||||||
| chr17:38011198 | G | T | 1 | a0003c0003t0001g0035 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.668-233G>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38011198 | |||||||
| chr17:38011270 | G | A | 1 | a0004c0005t0003g0006 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.668-161G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | chr17 | 38011270 | |||||||
| chr17:38011270 | GC | G | 5 | a0002c0004t0001g0023 a0002c0004t0001g0024 a0002c0004t0001g0026 others(2): Show |
5 | HG00673.hp2 HG02055.hp2 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.668-157delC | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | 38011270 | ||||||
| chr17:38011538 | T | TC | 3 | a0001c0001t0002g0030 a0001c0001t0002g0043 a0014c0019t0001g0033 |
3 | HG01261.hp1 HG03927.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.762+17dupC | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | 38011538 | ||||||
| chr17:38011589 | G | C | 2 | a0004c0005t0003g0006 a0004c0010t0003g0005 |
2 | HG02109.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.762+64G>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/13 | chr17 | 38011589 | |||||||
| chr17:38011639 | G | C | 1 | a0001c0001t0002g0043 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.762+114G>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/13 | chr17 | 38011639 | |||||||
| chr17:38011639 | G | T | 28 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(25): Show |
30 | HG00558.hp1 HG01109.hp1 HG01169.hp1 others(27): Show |
intron_variant | MODIFIER | c.762+114G>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/13 | chr17 | 38011639 | |||||||
| chr17:38011656 | G | A | 1 | a0002c0013t0004g0018 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.762+131G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/13 | chr17 | 38011656 | |||||||
| chr17:38011735 | G | A | 31 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(28): Show |
33 | HG00558.hp1 HG01109.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.763-175G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/13 | chr17 | 38011735 | |||||||
| chr17:38011833 | A | G | 1 | a0004c0005t0003g0006 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.763-77A>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/13 | chr17 | 38011833 | |||||||
| chr17:38011836 | G | C | 2 | a0005c0007t0003g0013 a0005c0007t0003g0014 |
2 | HG02615.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.763-74G>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/13 | chr17 | 38011836 | |||||||
| chr17:38011873 | A | T | 1 | a0004c0005t0003g0015 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.763-37A>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 10/13 | chr17 | 38011873 | |||||||
| chr17:38011990 | G | A | 1 | a0002c0002t0003g0058 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.828+15G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 11/13 | chr17 | 38011990 | |||||||
| chr17:38012170 | G | T | 1 | a0004c0005t0003g0009 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.828+195G>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 11/13 | chr17 | 38012170 | |||||||
| chr17:38012195 | G | A | 1 | a0002c0002t0001g0037 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.828+220G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 11/13 | chr17 | 38012195 | |||||||
| chr17:38012268 | G | GC | 5 | a0001c0001t0002g0030 a0001c0001t0002g0043 a0003c0003t0002g0019 others(2): Show |
5 | HG01261.hp1 HG02683.hp2 NA18969.hp1 others(2): Show |
intron_variant | MODIFIER | c.829-165dupC | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | 38012268 | ||||||
| chr17:38012295 | G | C | 1 | a0002c0002t0003g0058 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.829-144G>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 11/13 | chr17 | 38012295 | |||||||
| chr17:38012555 | C | A | 1 | a0014c0019t0001g0033 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.928+17C>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012555 | |||||||
| chr17:38012632 | T | G | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.928+94T>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012632 | |||||||
| chr17:38012656 | T | C | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.928+118T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012656 | |||||||
| chr17:38012689 | C | T | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.928+151C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012689 | |||||||
| chr17:38012747 | T | A | 1 | a0008c0012t0002g0016 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.929-162T>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012747 | |||||||
| chr17:38012748 | C | A | 1 | a0008c0012t0002g0016 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.929-161C>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012748 | |||||||
| chr17:38012750 | G | A | 5 | a0002c0004t0001g0023 a0002c0004t0001g0024 a0002c0004t0001g0026 others(2): Show |
5 | HG00673.hp2 HG02055.hp2 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.929-159G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012750 | |||||||
| chr17:38012754 | C | T | 1 | a0002c0004t0001g0040 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.929-155C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012754 | |||||||
| chr17:38012778 | G | A | 7 | a0002c0002t0002g0022 a0002c0002t0002g0042 a0002c0004t0001g0023 others(4): Show |
7 | HG00558.hp2 HG02055.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.929-131G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012778 | |||||||
| chr17:38012780 | G | A | 15 | a0002c0002t0002g0022 a0002c0002t0002g0042 a0002c0004t0001g0023 others(12): Show |
15 | HG00558.hp2 HG01109.hp2 HG01192.hp1 others(12): Show |
intron_variant | MODIFIER | c.929-129G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012780 | |||||||
| chr17:38012788 | A | T | 1 | a0011c0021t0001g0046 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.929-121A>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012788 | |||||||
| chr17:38012800 | G | A | 1 | a0002c0013t0004g0018 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.929-109G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012800 | |||||||
| chr17:38012824 | C | A | 3 | a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 |
3 | HG02602.hp2 HG03492.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.929-85C>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012824 | |||||||
| chr17:38012847 | G | T | 1 | a0004c0010t0003g0005 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.929-62G>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012847 | |||||||
| chr17:38012850 | G | A | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.929-59G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 12/13 | chr17 | 38012850 | |||||||
| chr17:38013266 | C | T | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.1081+205C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013266 | |||||||
| chr17:38013343 | G | A | 2 | a0006c0015t0004g0012 a0009c0014t0004g0011 |
2 | HG01109.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.1081+282G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013343 | |||||||
| chr17:38013378 | T | C | 1 | a0013c0008t0005g0060 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1081+317T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013378 | |||||||
| chr17:38013536 | A | AGGGCACA others(11): Show |
51 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(48): Show |
54 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(51): Show |
intron_variant | MODIFIER | c.1081+479_1081+480i others(20): Show |
TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | 38013536 | ||||||
| chr17:38013557 | G | C | 1 | a0002c0013t0004g0018 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1082-468G>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013557 | |||||||
| chr17:38013681 | G | A | 31 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(28): Show |
34 | HG00558.hp1 HG01109.hp1 HG01169.hp1 others(31): Show |
intron_variant | MODIFIER | c.1082-344G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013681 | |||||||
| chr17:38013759 | G | A | 1 | a0002c0002t0001g0037 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1082-266G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013759 | |||||||
| chr17:38013806 | G | GTCCCAGG others(25): Show |
1 | a0010c0017t0008g0055 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1082-214_1082-183d others(34): Show |
TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | 38013806 | ||||||
| chr17:38013857 | C | T | 3 | a0004c0005t0003g0015 a0006c0015t0004g0012 a0009c0014t0004g0011 |
3 | HG01109.hp2 HG02280.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1082-168C>T | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013857 | |||||||
| chr17:38013892 | G | A | 16 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0034 others(13): Show |
17 | HG01109.hp1 HG01169.hp1 HG01261.hp2 others(14): Show |
intron_variant | MODIFIER | c.1082-133G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013892 | |||||||
| chr17:38013932 | C | G | 1 | a0001c0001t0002g0029 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1082-93C>G | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013932 | |||||||
| chr17:38013948 | G | A | 1 | a0012c0009t0009g0047 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1082-77G>A | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38013948 | |||||||
| chr17:38014021 | T | C | 1 | a0012c0009t0009g0047 | 1 | HG02895.hp2 | splice_region_variant&intron_variant | LOW | c.1082-4T>C | TBC1D3D | ENSG00000274419.7 | transcript | ENST00000616101.5 | protein_coding | 13/13 | chr17 | 38014021 |