Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 102723859 |
| ensemblid | ENSG00000278599.6 |
| hgncid | 27071 |
| symbol | TBC1D3E |
| name | TBC1 domain family member 3E |
| refseq_nuc | NM_001291466.2 |
| refseq_prot | NP_001278395.1 |
| ensembl_nuc | ENST00000621587.2 |
| ensembl_prot | ENSP00000483965.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 38127951 |
| end | 38138868 |
| strand | + |
| ver | v1.2 |
| region | chr17:38127951-38138868 |
| region5000 | chr17:38122951-38143868 |
| regionname0 | TBC1D3E_chr17_38127951_38138868 |
| regionname5000 | TBC1D3E_chr17_38122951_38143868 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 549 | 8 | 7 | 0 | 1 | 0 | 0 | 1 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | MDVVE others(544): Show |
chr17 | 38122951 | 38143868 |
| a0002 | 0/0 | 549 | 8 | 5 | 1 | 2 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | MDVVE others(544): Show |
chr17 | 38122951 | 38143868 |
| a0003 | 0/0 | 549 | 6 | 0 | 1 | 5 | 0 | 0 | 3 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | MDVVE others(544): Show |
chr17 | 38122951 | 38143868 |
| a0004 | 0/0 | 549 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | MDVVE others(544): Show |
chr17 | 38122951 | 38143868 |
| a0005 | 0/0 | 549 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | MDVVE others(544): Show |
chr17 | 38122951 | 38143868 |
| a0006 | 0/0 | 549 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | MDVVE others(544): Show |
chr17 | 38122951 | 38143868 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002 | 0/0 | 1647 | 3 | 3 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0001c0003 | 0/0 | 1647 | 3 | 2 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0001c0009 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0001c0010 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0002c0004 | 0/0 | 1647 | 3 | 1 | 1 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0002c0005 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0002c0007 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0002c0017 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0003c0001 | 0/0 | 1647 | 6 | 0 | 1 | 5 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0004c0006 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0004c0008 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0004c0015 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0005c0013 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0005c0014 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0005c0016 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0006c0011 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 | ||
| a0006c0012 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | ATGGA others(1642): Show |
chr17 | 38122951 | 38143868 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0003 | 0/0 | 2081 | 3 | 3 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0001c0003t0001 | 0/0 | 2081 | 3 | 2 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0001c0009t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0001c0010t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0002c0004t0001 | 0/0 | 2081 | 2 | 1 | 1 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0002c0004t0002 | 0/0 | 2081 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCGTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0002c0005t0002 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCGTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0002c0005t0004 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCGTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0002c0007t0002 | 0/0 | 2081 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCGTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0002c0017t0001 | 0/0 | 2081 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0003c0001t0001 | 0/0 | 2081 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0003c0001t0002 | 0/0 | 2081 | 4 | 0 | 1 | 3 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCGTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0004c0006t0002 | 0/0 | 2081 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCGTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0004c0008t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0004c0008t0002 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCGTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0004c0015t0002 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCGTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0005c0013t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0005c0014t0002 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCGTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0005c0016t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0006c0011t0003 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| a0006c0012t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | GCCTC others(2076): Show |
chr17 | 38122951 | 38143868 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0003g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0001c0002t0003g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0001c0002t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0001c0003t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0001c0003t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0001c0003t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0001c0009t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0001c0010t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0002c0004t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0002c0004t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0002c0004t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0002c0005t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0002c0005t0004g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0002c0007t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0002c0007t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0002c0017t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0003c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0003c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0003c0001t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0003c0001t0002g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0003c0001t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0003c0001t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0004c0006t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0004c0006t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0004c0008t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0004c0008t0002g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0004c0015t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0005c0013t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0005c0014t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0005c0016t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0006c0011t0003g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| a0006c0012t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00738 | hp1 | a0003 | c0001 | t0002 | g0011 | AMR | PUR | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG00738 | hp2 | a0002 | c0004 | t0001 | g0022 | AMR | PUR | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02040 | hp1 | a0003 | c0001 | t0001 | g0032 | EAS | KHV | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02040 | hp2 | a0002 | c0004 | t0002 | g0020 | EAS | KHV | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02074 | hp1 | a0003 | c0001 | t0002 | g0014 | EAS | KHV | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02074 | hp2 | a0002 | c0017 | t0001 | g0005 | EAS | KHV | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02145 | hp1 | a0001 | c0003 | t0001 | g0023 | AFR | ACB | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02145 | hp2 | a0004 | c0008 | t0001 | g0025 | AFR | ACB | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02717 | hp1 | a0001 | c0002 | t0003 | g0003 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02717 | hp2 | a0005 | c0014 | t0002 | g0007 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02723 | hp1 | a0002 | c0007 | t0002 | g0008 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02723 | hp2 | a0001 | c0002 | t0003 | g0001 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02818 | hp1 | a0004 | c0008 | t0002 | g0010 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02818 | hp2 | a0002 | c0005 | t0002 | g0009 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02895 | hp1 | a0002 | c0004 | t0001 | g0018 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02895 | hp2 | a0001 | c0009 | t0001 | g0024 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02897 | hp1 | a0001 | c0010 | t0001 | g0029 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02897 | hp2 | a0002 | c0007 | t0002 | g0026 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG03098 | hp1 | a0001 | c0002 | t0003 | g0002 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG03098 | hp2 | a0005 | c0013 | t0001 | g0028 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG03209 | hp1 | a0001 | c0003 | t0001 | g0004 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG03209 | hp2 | a0002 | c0005 | t0004 | g0027 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG03453 | hp1 | a0006 | c0011 | t0003 | g0006 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG03453 | hp2 | a0004 | c0006 | t0002 | g0015 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| NA18946 | hp1 | a0003 | c0001 | t0001 | g0031 | EAS | JPT | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| NA18946 | hp2 | a0001 | c0003 | t0001 | g0030 | EAS | JPT | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| NA19066 | hp1 | a0003 | c0001 | t0002 | g0012 | EAS | JPT | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| NA19066 | hp2 | a0003 | c0001 | t0002 | g0013 | EAS | JPT | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| NA19240 | hp1 | a0004 | c0006 | t0002 | g0016 | AFR | YRI | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| NA19240 | hp2 | a0005 | c0016 | t0001 | g0017 | AFR | YRI | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02559 | hp1 | a0006 | c0012 | t0001 | g0019 | AFR | ACB | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| HG02559 | hp2 | a0004 | c0015 | t0002 | g0021 | AFR | ACB | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38132215 | C | T | 4 | a0002 a0003 a0004 others(1): Show |
22 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(19): Show |
missense_variant | MODERATE | c.350C>T | p.Thr117Ile | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 6/14 | 467/2082 | 350/1650 | 117/549 | chr17 | 38132215 | |||
| chr17:38136982 | A | C | 2 | a0004 a0006 |
7 | HG02145.hp2 HG02559.hp1 HG02559.hp2 others(4): Show |
missense_variant | MODERATE | c.1060A>C | p.Lys354Gln | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/14 | 1177/2082 | 1060/1650 | 354/549 | chr17 | 38136982 | |||
| chr17:38138120 | C | T | 2 | a0003 a0005 |
9 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(6): Show |
missense_variant | MODERATE | c.1217C>T | p.Pro406Leu | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 14/14 | 1334/2082 | 1217/1650 | 406/549 | chr17 | 38138120 | |||
| chr17:38138342 | T | C | 1 | a0003 | 6 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(3): Show |
missense_variant | MODERATE | c.1439T>C | p.Val480Ala | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 14/14 | 1556/2082 | 1439/1650 | 480/549 | chr17 | 38138342 | |||
| chr17:38138354 | C | A | 1 | a0003 | 6 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(3): Show |
missense_variant | MODERATE | c.1451C>A | p.Ser484Tyr | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 14/14 | 1568/2082 | 1451/1650 | 484/549 | chr17 | 38138354 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38132651 | T | C | 2 | a0001c0009 a0002c0005 |
3 | HG02818.hp2 HG02895.hp2 HG03209.hp2 |
synonymous_variant | LOW | c.457T>C | p.Leu153Leu | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/14 | 574/2082 | 457/1650 | 153/549 | chr17 | 38132651 | |||
| chr17:38133989 | C | T | 7 | a0001c0003 a0002c0004 a0002c0017 others(4): Show |
17 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(14): Show |
synonymous_variant | LOW | c.540C>T | p.Tyr180Tyr | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/14 | 657/2082 | 540/1650 | 180/549 | chr17 | 38133989 | |||
| chr17:38134652 | C | T | 2 | a0002c0017 a0006c0012 |
2 | HG02074.hp2 HG02559.hp1 |
synonymous_variant | LOW | c.660C>T | p.Ser220Ser | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/14 | 777/2082 | 660/1650 | 220/549 | chr17 | 38134652 | |||
| chr17:38136441 | C | T | 14 | a0001c0003 a0001c0009 a0001c0010 others(11): Show |
26 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(23): Show |
synonymous_variant | LOW | c.889C>T | p.Leu297Leu | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/14 | 1006/2082 | 889/1650 | 297/549 | chr17 | 38136441 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38127953 | C | G | 9 | a0002c0004t0002 a0002c0005t0002 a0002c0005t0004 others(6): Show |
14 | HG00738.hp1 HG02040.hp2 HG02074.hp1 others(11): Show |
5_prime_UTR_variant | MODIFIER | c.-115C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/14 | 1543 | chr17 | 38127953 | ||||||
| chr17:38138734 | A | G | 3 | a0001c0002t0003 a0002c0005t0004 a0006c0011t0003 |
5 | HG02717.hp1 HG02723.hp2 HG03098.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*181A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 14/14 | 181 | chr17 | 38138734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38128125 | G | A | 4 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(1): Show |
4 | HG02717.hp1 HG02723.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-2+59G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128125 | |||||||
| chr17:38128185 | C | T | 3 | a0001c0003t0001g0030 a0003c0001t0001g0031 a0003c0001t0001g0032 |
3 | HG02040.hp1 NA18946.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.-2+119C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128185 | |||||||
| chr17:38128225 | G | A | 1 | a0002c0017t0001g0005 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.-2+159G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128225 | |||||||
| chr17:38128275 | C | T | 1 | a0001c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.-2+209C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128275 | |||||||
| chr17:38128334 | T | C | 31 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(28): Show |
31 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(28): Show |
intron_variant | MODIFIER | c.-2+268T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128334 | |||||||
| chr17:38128462 | CAGAGCCA others(7): Show |
C | 4 | a0002c0005t0002g0009 a0002c0007t0002g0008 a0005c0014t0002g0007 others(1): Show |
4 | HG02717.hp2 HG02723.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.-2+410_-2+423delTA others(12): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | 38128462 | ||||||
| chr17:38128473 | G | A | 1 | a0001c0003t0001g0023 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-2+407G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128473 | |||||||
| chr17:38128584 | GGGGGAGC others(11): Show |
G | 4 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(1): Show |
4 | HG02717.hp1 HG02723.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.-2+522_-2+539delGA others(16): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | 38128584 | ||||||
| chr17:38128609 | C | G | 1 | a0005c0013t0001g0028 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-2+543C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128609 | |||||||
| chr17:38128716 | C | T | 1 | a0001c0003t0001g0004 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-2+650C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128716 | |||||||
| chr17:38128730 | G | A | 8 | a0001c0003t0001g0030 a0003c0001t0001g0031 a0003c0001t0001g0032 others(5): Show |
8 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(5): Show |
intron_variant | MODIFIER | c.-2+664G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128730 | |||||||
| chr17:38128789 | C | T | 3 | a0001c0003t0001g0030 a0003c0001t0001g0031 a0003c0001t0001g0032 |
3 | HG02040.hp1 NA18946.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.-1-706C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128789 | |||||||
| chr17:38128922 | T | C | 14 | a0001c0003t0001g0030 a0001c0010t0001g0029 a0002c0004t0001g0018 others(11): Show |
14 | HG00738.hp1 HG02040.hp1 HG02717.hp2 others(11): Show |
intron_variant | MODIFIER | c.-1-573T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128922 | |||||||
| chr17:38128930 | C | T | 1 | a0006c0011t0003g0006 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-1-565C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128930 | |||||||
| chr17:38129002 | C | T | 2 | a0002c0005t0004g0027 a0002c0007t0002g0026 |
2 | HG02897.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-1-493C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38129002 | |||||||
| chr17:38129254 | A | T | 1 | a0003c0001t0002g0014 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-1-241A>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38129254 | |||||||
| chr17:38129296 | T | C | 1 | a0001c0003t0001g0004 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-1-199T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38129296 | |||||||
| chr17:38129464 | G | A | 18 | a0001c0003t0001g0004 a0001c0003t0001g0023 a0001c0010t0001g0029 others(15): Show |
18 | HG00738.hp1 HG00738.hp2 HG02040.hp2 others(15): Show |
intron_variant | MODIFIER | c.-1-31G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38129464 | |||||||
| chr17:38129842 | C | T | 1 | a0002c0005t0002g0009 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.158+27C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38129842 | |||||||
| chr17:38129884 | A | T | 1 | a0004c0008t0001g0025 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.158+69A>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38129884 | |||||||
| chr17:38130016 | G | A | 1 | a0004c0008t0001g0025 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.158+201G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130016 | |||||||
| chr17:38130203 | C | G | 2 | a0002c0007t0002g0008 a0005c0014t0002g0007 |
2 | HG02717.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.158+388C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130203 | |||||||
| chr17:38130217 | A | G | 1 | a0001c0003t0001g0023 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.158+402A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130217 | |||||||
| chr17:38130547 | A | C | 1 | a0001c0009t0001g0024 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.159-552A>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130547 | |||||||
| chr17:38130564 | T | C | 5 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(2): Show |
5 | HG02040.hp2 HG02559.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.159-535T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130564 | |||||||
| chr17:38130625 | G | A | 2 | a0002c0017t0001g0005 a0004c0008t0001g0025 |
2 | HG02074.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.159-474G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130625 | |||||||
| chr17:38130626 | T | C | 1 | a0001c0009t0001g0024 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.159-473T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130626 | |||||||
| chr17:38130825 | C | G | 2 | a0002c0017t0001g0005 a0004c0008t0001g0025 |
2 | HG02074.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.159-274C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130825 | |||||||
| chr17:38130924 | C | G | 3 | a0001c0003t0001g0030 a0003c0001t0001g0031 a0003c0001t0001g0032 |
3 | HG02040.hp1 NA18946.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.159-175C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130924 | |||||||
| chr17:38130983 | G | A | 1 | a0006c0012t0001g0019 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.159-116G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130983 | |||||||
| chr17:38131033 | G | A | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 |
3 | HG02717.hp1 HG02723.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.159-66G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38131033 | |||||||
| chr17:38131232 | C | T | 1 | a0001c0002t0003g0003 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.198+94C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 4/13 | chr17 | 38131232 | |||||||
| chr17:38131319 | A | G | 1 | a0001c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.198+181A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 4/13 | chr17 | 38131319 | |||||||
| chr17:38131365 | C | T | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 |
3 | HG02717.hp1 HG02723.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.198+227C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 4/13 | chr17 | 38131365 | |||||||
| chr17:38131833 | G | A | 1 | a0006c0012t0001g0019 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.279+132G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 5/13 | chr17 | 38131833 | |||||||
| chr17:38131932 | T | G | 2 | a0001c0003t0001g0030 a0002c0004t0002g0020 |
2 | HG02040.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.280-213T>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 5/13 | chr17 | 38131932 | |||||||
| chr17:38132492 | G | A | 1 | a0001c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.388-90G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 6/13 | chr17 | 38132492 | |||||||
| chr17:38132773 | G | A | 1 | a0001c0003t0001g0023 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.497+82G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38132773 | |||||||
| chr17:38133030 | G | C | 20 | a0001c0003t0001g0023 a0001c0003t0001g0030 a0002c0004t0001g0018 others(17): Show |
20 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(17): Show |
intron_variant | MODIFIER | c.497+339G>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133030 | |||||||
| chr17:38133452 | A | C | 13 | a0001c0003t0001g0030 a0002c0004t0001g0018 a0002c0004t0001g0022 others(10): Show |
13 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(10): Show |
intron_variant | MODIFIER | c.498-495A>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133452 | |||||||
| chr17:38133522 | C | T | 1 | a0001c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.498-425C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133522 | |||||||
| chr17:38133637 | T | C | 28 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(25): Show |
28 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(25): Show |
intron_variant | MODIFIER | c.498-310T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133637 | |||||||
| chr17:38133696 | GA | G | 12 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(9): Show |
12 | HG00738.hp1 HG02040.hp1 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.498-234delA | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 38133696 | ||||||
| chr17:38133696 | GAA | G | 6 | a0001c0010t0001g0029 a0002c0004t0001g0018 a0002c0004t0001g0022 others(3): Show |
6 | HG00738.hp2 HG02040.hp2 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.498-235_498-234del others(2): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 38133696 | ||||||
| chr17:38133696 | GAAAAAAA | G | 5 | a0001c0003t0001g0023 a0001c0003t0001g0030 a0001c0009t0001g0024 others(2): Show |
5 | HG02145.hp1 HG02818.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.498-240_498-234del others(7): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 38133696 | ||||||
| chr17:38133782 | T | A | 1 | a0006c0012t0001g0019 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.498-165T>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133782 | |||||||
| chr17:38133805 | G | A | 22 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(19): Show |
22 | HG00738.hp2 HG02040.hp2 HG02074.hp2 others(19): Show |
intron_variant | MODIFIER | c.498-142G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133805 | |||||||
| chr17:38133846 | A | C | 1 | a0001c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.498-101A>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133846 | |||||||
| chr17:38134008 | G | A | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 |
3 | HG02717.hp1 HG02723.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.546+13G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134008 | |||||||
| chr17:38134083 | A | C | 12 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(9): Show |
12 | HG02559.hp2 HG02717.hp1 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.546+88A>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134083 | |||||||
| chr17:38134160 | G | A | 1 | a0001c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.546+165G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134160 | |||||||
| chr17:38134190 | A | G | 4 | a0002c0005t0004g0027 a0004c0006t0002g0015 a0004c0006t0002g0016 others(1): Show |
4 | HG03098.hp2 HG03209.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.546+195A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134190 | |||||||
| chr17:38134503 | G | A | 1 | a0006c0012t0001g0019 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.547-36G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134503 | |||||||
| chr17:38134721 | A | G | 1 | a0001c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.667+62A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134721 | |||||||
| chr17:38134753 | C | T | 1 | a0004c0008t0002g0010 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.667+94C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134753 | |||||||
| chr17:38134761 | G | A | 1 | a0004c0008t0002g0010 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.667+102G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134761 | |||||||
| chr17:38134784 | G | A | 10 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(7): Show |
10 | HG00738.hp1 HG02074.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.667+125G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134784 | |||||||
| chr17:38134843 | C | T | 1 | a0003c0001t0002g0014 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.667+184C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134843 | |||||||
| chr17:38134848 | C | G | 13 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(10): Show |
13 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(10): Show |
intron_variant | MODIFIER | c.667+189C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134848 | |||||||
| chr17:38134871 | T | C | 1 | a0001c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.667+212T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134871 | |||||||
| chr17:38134985 | T | C | 1 | a0004c0008t0002g0010 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.667+326T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134985 | |||||||
| chr17:38135010 | T | C | 7 | a0001c0003t0001g0004 a0001c0003t0001g0023 a0001c0003t0001g0030 others(4): Show |
7 | HG02145.hp1 HG02895.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.667+351T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135010 | |||||||
| chr17:38135016 | G | A | 1 | a0006c0011t0003g0006 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.667+357G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135016 | |||||||
| chr17:38135057 | C | T | 19 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(16): Show |
19 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(16): Show |
intron_variant | MODIFIER | c.668-316C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135057 | |||||||
| chr17:38135116 | A | G | 1 | a0003c0001t0002g0012 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.668-257A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135116 | |||||||
| chr17:38135140 | G | T | 1 | a0004c0008t0001g0025 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.668-233G>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135140 | |||||||
| chr17:38135212 | GC | G | 2 | a0002c0017t0001g0005 a0006c0012t0001g0019 |
2 | HG02074.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.668-157delC | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | 38135212 | ||||||
| chr17:38135256 | C | T | 24 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(21): Show |
24 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(21): Show |
intron_variant | MODIFIER | c.668-117C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135256 | |||||||
| chr17:38135531 | G | C | 1 | a0001c0009t0001g0024 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.762+64G>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135531 | |||||||
| chr17:38135581 | G | T | 7 | a0002c0004t0001g0022 a0002c0004t0002g0020 a0002c0005t0002g0009 others(4): Show |
7 | HG00738.hp2 HG02040.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.762+114G>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135581 | |||||||
| chr17:38135584 | C | T | 31 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(28): Show |
31 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(28): Show |
intron_variant | MODIFIER | c.762+117C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135584 | |||||||
| chr17:38135677 | G | A | 6 | a0001c0003t0001g0030 a0002c0004t0001g0022 a0002c0004t0002g0020 others(3): Show |
6 | HG00738.hp2 HG02040.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.763-175G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135677 | |||||||
| chr17:38135807 | T | G | 1 | a0001c0002t0003g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.763-45T>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135807 | |||||||
| chr17:38136044 | C | T | 1 | a0002c0007t0002g0008 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.828+127C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136044 | |||||||
| chr17:38136152 | A | G | 10 | a0002c0004t0001g0018 a0002c0007t0002g0008 a0003c0001t0001g0031 others(7): Show |
10 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.829-229A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136152 | |||||||
| chr17:38136167 | G | A | 1 | a0001c0003t0001g0023 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.829-214G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136167 | |||||||
| chr17:38136204 | A | G | 5 | a0001c0003t0001g0004 a0002c0005t0002g0009 a0002c0005t0004g0027 others(2): Show |
5 | HG02559.hp2 HG02818.hp2 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.829-177A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136204 | |||||||
| chr17:38136225 | C | T | 1 | a0005c0013t0001g0028 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.829-156C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136225 | |||||||
| chr17:38136692 | G | A | 2 | a0002c0017t0001g0005 a0006c0012t0001g0019 |
2 | HG02074.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.929-159G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136692 | |||||||
| chr17:38136696 | C | T | 1 | a0006c0012t0001g0019 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.929-155C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136696 | |||||||
| chr17:38136720 | G | A | 2 | a0002c0017t0001g0005 a0006c0012t0001g0019 |
2 | HG02074.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.929-131G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136720 | |||||||
| chr17:38136722 | G | A | 4 | a0002c0017t0001g0005 a0005c0013t0001g0028 a0006c0011t0003g0006 others(1): Show |
4 | HG02074.hp2 HG02559.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.929-129G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136722 | |||||||
| chr17:38136761 | C | G | 2 | a0003c0001t0001g0031 a0003c0001t0001g0032 |
2 | HG02040.hp1 NA18946.hp1 |
intron_variant | MODIFIER | c.929-90C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136761 | |||||||
| chr17:38136762 | C | T | 10 | a0002c0004t0001g0018 a0002c0007t0002g0008 a0003c0001t0001g0031 others(7): Show |
10 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.929-89C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136762 | |||||||
| chr17:38137058 | A | G | 1 | a0004c0015t0002g0021 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1081+55A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137058 | |||||||
| chr17:38137478 | AGGGCACA others(11): Show |
A | 3 | a0001c0009t0001g0024 a0001c0010t0001g0029 a0004c0008t0001g0025 |
3 | HG02145.hp2 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1081+480_1082-485d others(20): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | 38137478 | ||||||
| chr17:38137532 | T | C | 3 | a0002c0005t0002g0009 a0002c0005t0004g0027 a0002c0007t0002g0026 |
3 | HG02818.hp2 HG02897.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1082-453T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137532 | |||||||
| chr17:38137641 | G | A | 3 | a0001c0003t0001g0030 a0002c0004t0001g0022 a0002c0004t0002g0020 |
3 | HG00738.hp2 HG02040.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.1082-344G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137641 | |||||||
| chr17:38137782 | G | C | 1 | a0006c0011t0003g0006 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1082-203G>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137782 | |||||||
| chr17:38137817 | C | T | 10 | a0002c0004t0001g0018 a0002c0007t0002g0008 a0003c0001t0001g0031 others(7): Show |
10 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.1082-168C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137817 | |||||||
| chr17:38137852 | G | A | 1 | a0002c0004t0002g0020 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1082-133G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137852 |