Search by Gene
| Item | Value |
|---|---|
| geneid | 729873 |
| ensemblid | ENSG00000274611.4 |
| hgncid | 19031 |
| symbol | TBC1D3 |
| name | TBC1 domain family member 3 |
| refseq_nuc | NM_001123391.4 |
| refseq_prot | NP_001116863.3 |
| ensembl_nuc | ENST00000620215.3 |
| ensembl_prot | ENSP00000478683.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 38181659 |
| end | 38192555 |
| strand | - |
| ver | v1.2 |
| region | chr17:38181659-38192555 |
| region5000 | chr17:38176659-38197555 |
| regionname0 | TBC1D3_chr17_38181659_38192555 |
| regionname5000 | TBC1D3_chr17_38176659_38197555 |
Multiple Alignments (by translate haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
Multiple Alignments (by aa haplotype frequency)
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 549 | 16 | 1 | 4 | 6 | 0 | 5 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0002 | 0/0 | 549 | 9 | 1 | 5 | 1 | 0 | 2 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0003 | 0/0 | 549 | 7 | 5 | 2 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0004 | 0/0 | 549 | 5 | 0 | 1 | 4 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0005 | 0/0 | 549 | 4 | 2 | 2 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0006 | 0/0 | 549 | 4 | 1 | 1 | 2 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0007 | 0/0 | 549 | 3 | 2 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0008 | 0/0 | 549 | 2 | 0 | 1 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0009 | 0/0 | 549 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0010 | 0/0 | 549 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDMVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0011 | 0/0 | 549 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0012 | 0/0 | 549 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0013 | 0/0 | 549 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0014 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0015 | 0/0 | 36 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(31): Show |
chr17 | 38176659 | 38197555 |
| a0016 | 0/0 | 94 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(89): Show |
chr17 | 38176659 | 38197555 |
| a0017 | 0/0 | 59 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(54): Show |
chr17 | 38176659 | 38197555 |
| a0018 | 0/0 | 139 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(134): Show |
chr17 | 38176659 | 38197555 |
| a0019 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0020 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0021 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0022 | 0/0 | 549 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0023 | 0/0 | 549 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0024 | 0/0 | 548 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(543): Show |
chr17 | 38176659 | 38197555 |
| a0025 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0026 | 0/0 | 401 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(396): Show |
chr17 | 38176659 | 38197555 |
| a0027 | 0/0 | 549 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0028 | 0/0 | 549 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(544): Show |
chr17 | 38176659 | 38197555 |
| a0029 | 0/0 | 19 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | MDVVE others(14): Show |
chr17 | 38176659 | 38197555 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1647 | 16 | 1 | 4 | 6 | 0 | 5 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0002c0002 | 0/0 | 1647 | 8 | 0 | 5 | 1 | 0 | 2 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0002c0024 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0003c0005 | 0/0 | 1647 | 3 | 3 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0003c0006 | 0/0 | 1647 | 2 | 0 | 2 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0003c0007 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0004c0003 | 0/0 | 1647 | 5 | 0 | 1 | 4 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0005c0008 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0005c0018 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0005c0020 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0006c0004 | 0/0 | 1647 | 4 | 1 | 1 | 2 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0007c0010 | 0/0 | 1647 | 2 | 1 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0007c0026 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0008c0009 | 0/0 | 1647 | 2 | 0 | 1 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0009c0011 | 0/0 | 1647 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0010c0012 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0011c0019 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0012c0035 | 0/0 | 1647 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0013c0021 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0014c0032 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0015c0033 | 0/0 | 1649 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1644): Show |
chr17 | 38176659 | 38197555 | ||
| a0016c0014 | 0/0 | 1646 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1641): Show |
chr17 | 38176659 | 38197555 | ||
| a0017c0013 | 0/0 | 1648 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1643): Show |
chr17 | 38176659 | 38197555 | ||
| a0018c0016 | 0/0 | 1649 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1644): Show |
chr17 | 38176659 | 38197555 | ||
| a0019c0027 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0020c0023 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0021c0025 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0022c0015 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0023c0031 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0024c0029 | 0/0 | 1644 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1639): Show |
chr17 | 38176659 | 38197555 | ||
| a0025c0028 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0026c0022 | 0/0 | 1647 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0027c0017 | 0/0 | 1647 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0028c0030 | 0/0 | 1647 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1642): Show |
chr17 | 38176659 | 38197555 | ||
| a0029c0034 | 0/0 | 1646 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | ATGGA others(1641): Show |
chr17 | 38176659 | 38197555 |
| acthapid | grch38/chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2076 | 16 | 1 | 4 | 6 | 0 | 5 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0002c0002t0001 | 0/0 | 2076 | 8 | 0 | 5 | 1 | 0 | 2 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0002c0024t0007 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0003c0005t0001 | 0/0 | 2076 | 3 | 3 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0003c0006t0004 | 0/0 | 2076 | 2 | 0 | 2 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0003c0007t0002 | 0/0 | 2076 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0004c0003t0001 | 0/0 | 2076 | 5 | 0 | 1 | 4 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0005c0008t0005 | 0/0 | 2076 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0005c0018t0002 | 0/0 | 2076 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0005c0020t0002 | 0/0 | 2076 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0006c0004t0001 | 0/0 | 2076 | 4 | 1 | 1 | 2 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0007c0010t0002 | 0/0 | 2076 | 2 | 1 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0007c0026t0002 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0008c0009t0001 | 0/0 | 2076 | 2 | 0 | 1 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0009c0011t0003 | 0/0 | 2076 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0010c0012t0001 | 0/0 | 2076 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0011c0019t0001 | 0/0 | 2076 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0012c0035t0001 | 0/0 | 2076 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0013c0021t0001 | 0/0 | 2076 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0014c0032t0001 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0015c0033t0001 | 0/0 | 2078 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2073): Show |
chr17 | 38176659 | 38197555 |
| a0016c0014t0001 | 0/0 | 2075 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2070): Show |
chr17 | 38176659 | 38197555 |
| a0017c0013t0002 | 0/0 | 2077 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2072): Show |
chr17 | 38176659 | 38197555 |
| a0018c0016t0002 | 0/0 | 2078 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2073): Show |
chr17 | 38176659 | 38197555 |
| a0019c0027t0002 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0020c0023t0001 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0021c0025t0006 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0022c0015t0010 | 0/0 | 2076 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0023c0031t0009 | 0/0 | 2076 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0024c0029t0001 | 0/0 | 2073 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2068): Show |
chr17 | 38176659 | 38197555 |
| a0025c0028t0001 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0026c0022t0001 | 0/0 | 2076 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0027c0017t0001 | 0/0 | 2076 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0028c0030t0001 | 0/0 | 2076 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2071): Show |
chr17 | 38176659 | 38197555 |
| a0029c0034t0008 | 0/0 | 2075 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | AGTGG others(2070): Show |
chr17 | 38176659 | 38197555 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 5 | 0 | 0 | 4 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0002c0002t0001g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0002c0002t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0002c0002t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0002c0002t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0002c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0002c0002t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0002c0002t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0002c0002t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0002c0024t0007g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0003c0005t0001g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0003c0005t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0003c0006t0004g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0003c0006t0004g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0003c0007t0002g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0004c0003t0001g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0004c0003t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0004c0003t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0004c0003t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0004c0003t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0005c0008t0005g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0005c0008t0005g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0005c0018t0002g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0005c0020t0002g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0006c0004t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0006c0004t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0006c0004t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0006c0004t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0007c0010t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0007c0010t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0007c0026t0002g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0008c0009t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0008c0009t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0009c0011t0003g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0009c0011t0003g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0010c0012t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0011c0019t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0012c0035t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0013c0021t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0014c0032t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0015c0033t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0016c0014t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0017c0013t0002g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0018c0016t0002g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0019c0027t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0020c0023t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0021c0025t0006g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0022c0015t0010g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0023c0031t0009g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0024c0029t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0025c0028t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0026c0022t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0027c0017t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0028c0030t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| a0029c0034t0008g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| sampleid | haplotypeid | ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG00438 | hp2 | a0006 | c0004 | t0001 | g0066 | EAS | CHS | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG00597 | hp1 | a0010 | c0012 | t0001 | g0048 | EAS | CHS | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0058 | AMR | PUR | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0064 | AMR | PUR | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01070 | hp1 | a0011 | c0019 | t0001 | g0034 | AMR | PUR | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01070 | hp2 | a0004 | c0003 | t0001 | g0018 | AMR | PUR | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01071 | hp1 | a0012 | c0035 | t0001 | g0024 | AMR | PUR | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0050 | AMR | PUR | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01099 | hp1 | a0005 | c0020 | t0002 | g0010 | AMR | PUR | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01099 | hp2 | a0006 | c0004 | t0001 | g0042 | AMR | PUR | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01261 | hp1 | a0002 | c0002 | t0001 | g0027 | AMR | CLM | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01261 | hp2 | a0008 | c0009 | t0001 | g0053 | AMR | CLM | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01358 | hp1 | a0002 | c0002 | t0001 | g0031 | AMR | CLM | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0062 | AMR | CLM | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01361 | hp1 | a0003 | c0006 | t0004 | g0013 | AMR | CLM | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01361 | hp2 | a0003 | c0006 | t0004 | g0012 | AMR | CLM | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01433 | hp1 | a0005 | c0018 | t0002 | g0009 | AMR | CLM | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG01433 | hp2 | a0002 | c0002 | t0001 | g0032 | AMR | CLM | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02027 | hp1 | a0006 | c0004 | t0001 | g0044 | EAS | KHV | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02027 | hp2 | a0004 | c0003 | t0001 | g0037 | EAS | KHV | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02040 | hp2 | a0004 | c0003 | t0001 | g0039 | EAS | KHV | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02083 | hp2 | a0008 | c0009 | t0001 | g0056 | EAS | KHV | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02129 | hp1 | a0004 | c0003 | t0001 | g0040 | EAS | KHV | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02129 | hp2 | a0013 | c0021 | t0001 | g0054 | EAS | KHV | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02273 | hp1 | a0002 | c0002 | t0001 | g0030 | AMR | PEL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02273 | hp2 | a0002 | c0002 | t0001 | g0026 | AMR | PEL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02451 | hp1 | a0014 | c0032 | t0001 | g0029 | AFR | ACB | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02451 | hp2 | a0003 | c0005 | t0001 | g0003 | AFR | ACB | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02717 | hp1 | a0003 | c0007 | t0002 | g0002 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02717 | hp2 | a0005 | c0008 | t0005 | g0016 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02723 | hp1 | a0003 | c0007 | t0002 | g0002 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02723 | hp2 | a0005 | c0008 | t0005 | g0014 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02738 | hp1 | a0015 | c0033 | t0001 | g0021 | SAS | PJL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02738 | hp2 | a0016 | c0014 | t0001 | g0049 | SAS | PJL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02809 | hp1 | a0003 | c0005 | t0001 | g0003 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02809 | hp2 | a0009 | c0011 | t0003 | g0006 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02818 | hp1 | a0017 | c0013 | t0002 | g0046 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG02818 | hp2 | a0007 | c0010 | t0002 | g0015 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0060 | SAS | PJL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03017 | hp2 | a0018 | c0016 | t0002 | g0043 | SAS | PJL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03041 | hp1 | a0019 | c0027 | t0002 | g0011 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03041 | hp2 | a0007 | c0026 | t0002 | g0047 | AFR | GWD | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03453 | hp1 | a0020 | c0023 | t0001 | g0020 | AFR | MSL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03453 | hp2 | a0002 | c0024 | t0007 | g0036 | AFR | MSL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03492 | hp1 | a0002 | c0002 | t0001 | g0007 | SAS | PJL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0059 | SAS | PJL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03579 | hp1 | a0009 | c0011 | t0003 | g0005 | AFR | MSL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG03579 | hp2 | a0021 | c0025 | t0006 | g0004 | AFR | MSL | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0065 | SAS | STU | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0051 | SAS | STU | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| HG04228 | hp2 | a0022 | c0015 | t0010 | g0023 | SAS | STU | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA18747 | hp1 | a0023 | c0031 | t0009 | g0019 | EAS | CHB | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | CHB | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA18950 | hp1 | a0007 | c0010 | t0002 | g0035 | EAS | JPT | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA18950 | hp2 | a0024 | c0029 | t0001 | g0041 | EAS | JPT | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA18964 | hp1 | a0002 | c0002 | t0001 | g0028 | EAS | JPT | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA19043 | hp1 | a0025 | c0028 | t0001 | g0022 | AFR | LWK | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA19043 | hp2 | a0006 | c0004 | t0001 | g0045 | AFR | LWK | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA19084 | hp1 | a0004 | c0003 | t0001 | g0038 | EAS | JPT | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA19084 | hp2 | a0026 | c0022 | t0001 | g0055 | EAS | JPT | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA20905 | hp1 | a0002 | c0002 | t0001 | g0025 | SAS | GIH | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA20905 | hp2 | a0028 | c0030 | t0001 | g0063 | SAS | GIH | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA20300 | hp1 | a0027 | c0017 | t0001 | g0008 | AFR | USA | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0061 | AFR | USA | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA21309 | hp1 | a0003 | c0005 | t0001 | g0033 | AFR | LWK | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| NA21309 | hp2 | a0029 | c0034 | t0008 | g0017 | AFR | LWK | TBC1D3_chr17_38176659_38197555 | TBC1D3 | chr17 | 38176659 | 38197555 |
| view | chr:pos | ref | alt | # # of ahapid:amio-acid(protein) level
|
ahapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38181659 | T | G | 1 | a0023 | 1 | NA18747.hp1 | splice_region_variant | LOW | c.*315A>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | chr17 | 38181659 | |||||||
| chr17:38182001 | T | A | 4 | a0009a0019a0021others(1): Show | 5 | HG02809.hp2 HG03041.hp1 HG03579.hp1 others(2): Show |
missense_variant | MODERATE | c.1623A>T | p.Glu541Asp | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1735/2077 | 1623/1650 | 541/549 | chr17 | 38182001 | |||
| chr17:38182047 | T | G | 6 | a0001a0010a0013others(3): Show | 21 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(18): Show |
missense_variant | MODERATE | c.1577A>C | p.Gln526Pro | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1689/2077 | 1577/1650 | 526/549 | chr17 | 38182047 | |||
| chr17:38182111 | C | G | 1 | a0023 | 1 | NA18747.hp1 | missense_variant | MODERATE | c.1513G>C | p.Ala505Pro | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1625/2077 | 1513/1650 | 505/549 | chr17 | 38182111 | |||
| chr17:38182123 | G | A | 1 | a0027 | 1 | NA20300.hp1 | missense_variant | MODERATE | c.1501C>T | p.Arg501Trp | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1613/2077 | 1501/1650 | 501/549 | chr17 | 38182123 | |||
| chr17:38182143 | T | C | 1 | a0020 | 1 | HG03453.hp1 | missense_variant | MODERATE | c.1481A>G | p.Gln494Arg | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1593/2077 | 1481/1650 | 494/549 | chr17 | 38182143 | |||
| chr17:38182173 | G | T | 3 | a0004a0011a0024 | 7 | HG01070.hp1 HG01070.hp2 HG02027.hp2 others(4): Show |
missense_variant | MODERATE | c.1451C>A | p.Ser484Tyr | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1563/2077 | 1451/1650 | 484/549 | chr17 | 38182173 | |||
| chr17:38182185 | A | G | 3 | a0004a0011a0024 | 7 | HG01070.hp1 HG01070.hp2 HG02027.hp2 others(4): Show |
missense_variant | MODERATE | c.1439T>C | p.Val480Ala | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1551/2077 | 1439/1650 | 480/549 | chr17 | 38182185 | |||
| chr17:38182226 | G | GC | 1 | a0015 | 1 | HG02738.hp1 | frameshift_variant | HIGH | c.1397dupG | p.Trp468fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1509/2077 | 1397/1650 | 466/549 | chr17 | 38182226 | |||
| chr17:38182300 | C | T | 1 | a0025 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.1324G>A | p.Gly442Arg | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1436/2077 | 1324/1650 | 442/549 | chr17 | 38182300 | |||
| chr17:38182359 | C | T | 1 | a0021 | 1 | HG03579.hp2 | missense_variant | MODERATE | c.1265G>A | p.Arg422Gln | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1377/2077 | 1265/1650 | 422/549 | chr17 | 38182359 | |||
| chr17:38182407 | G | A | 4 | a0004a0011a0014others(1): Show | 8 | HG01070.hp1 HG01070.hp2 HG02027.hp2 others(5): Show |
missense_variant | MODERATE | c.1217C>T | p.Pro406Leu | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1329/2077 | 1217/1650 | 406/549 | chr17 | 38182407 | |||
| chr17:38182418 | C | T | 1 | a0026 | 1 | NA19084.hp2 | stop_gained | HIGH | c.1206G>A | p.Trp402* | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1318/2077 | 1206/1650 | 402/549 | chr17 | 38182418 | |||
| chr17:38182438 | G | A | 1 | a0023 | 1 | NA18747.hp1 | missense_variant | MODERATE | c.1186C>T | p.Arg396Trp | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1298/2077 | 1186/1650 | 396/549 | chr17 | 38182438 | |||
| chr17:38182525 | A | AC | 1 | a0018 | 1 | HG03017.hp2 | frameshift_variant | HIGH | c.1098dupG | p.Ser367fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1210/2077 | 1098/1650 | 366/549 | chr17 | 38182525 | |||
| chr17:38183528 | G | GT | 1 | a0017 | 1 | HG02818.hp1 | frameshift_variant | HIGH | c.1076_1077insA | p.Ala361fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/14 | 1188/2077 | 1076/1650 | 359/549 | chr17 | 38183528 | |||
| chr17:38183532 | G | T | 6 | a0001a0008a0010others(3): Show | 22 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(19): Show |
missense_variant | MODERATE | c.1073C>A | p.Pro358Gln | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/14 | 1185/2077 | 1073/1650 | 358/549 | chr17 | 38183532 | |||
| chr17:38183545 | T | G | 18 | a0001a0003a0007others(15): Show | 43 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(40): Show |
missense_variant | MODERATE | c.1060A>C | p.Lys354Gln | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/14 | 1172/2077 | 1060/1650 | 354/549 | chr17 | 38183545 | |||
| chr17:38183568 | G | C | 1 | a0009 | 2 | HG02809.hp2 HG03579.hp1 |
missense_variant | MODERATE | c.1037C>G | p.Ser346Cys | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/14 | 1149/2077 | 1037/1650 | 346/549 | chr17 | 38183568 | |||
| chr17:38183597 | C | A | 1 | a0023 | 1 | NA18747.hp1 | missense_variant | MODERATE | c.1008G>T | p.Glu336Asp | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/14 | 1120/2077 | 1008/1650 | 336/549 | chr17 | 38183597 | |||
| chr17:38185080 | G | A | 1 | a0023 | 1 | NA18747.hp1 | missense_variant | MODERATE | c.742C>T | p.Pro248Ser | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 10/14 | 854/2077 | 742/1650 | 248/549 | chr17 | 38185080 | |||
| chr17:38185094 | A | AC | 1 | a0017 | 1 | HG02818.hp1 | frameshift_variant | HIGH | c.727dupG | p.Val243fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 10/14 | 839/2077 | 727/1650 | 243/549 | chr17 | 38185094 | |||
| chr17:38185121 | C | T | 1 | a0009 | 2 | HG02809.hp2 HG03579.hp1 |
missense_variant | MODERATE | c.701G>A | p.Gly234Glu | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 10/14 | 813/2077 | 701/1650 | 234/549 | chr17 | 38185121 | |||
| chr17:38187860 | T | C | 2 | a0020a0023 | 2 | HG03453.hp1 NA18747.hp1 |
missense_variant | MODERATE | c.471A>G | p.Ile157Met | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/14 | 583/2077 | 471/1650 | 157/549 | chr17 | 38187860 | |||
| chr17:38187886 | C | T | 2 | a0020a0023 | 2 | HG03453.hp1 NA18747.hp1 |
missense_variant | MODERATE | c.445G>A | p.Val149Ile | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/14 | 557/2077 | 445/1650 | 149/549 | chr17 | 38187886 | |||
| chr17:38187921 | C | T | 3 | a0006a0017a0018 | 6 | HG00438.hp2 HG01099.hp2 HG02027.hp1 others(3): Show |
missense_variant | MODERATE | c.410G>A | p.Arg137Lys | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/14 | 522/2077 | 410/1650 | 137/549 | chr17 | 38187921 | |||
| chr17:38188284 | C | CG | 1 | a0018 | 1 | HG03017.hp2 | frameshift_variant | HIGH | c.375dupC | p.Gly126fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 6/14 | 487/2077 | 375/1650 | 125/549 | chr17 | 38188284 | |||
| chr17:38188296 | A | T | 1 | a0022 | 1 | HG04228.hp2 | missense_variant | MODERATE | c.364T>A | p.Leu122Met | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 6/14 | 476/2077 | 364/1650 | 122/549 | chr17 | 38188296 | |||
| chr17:38188310 | G | A | 12 | a0002a0004a0007others(9): Show | 27 | HG01070.hp2 HG01261.hp1 HG01358.hp1 others(24): Show |
missense_variant | MODERATE | c.350C>T | p.Thr117Ile | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 6/14 | 462/2077 | 350/1650 | 117/549 | chr17 | 38188310 | |||
| chr17:38188333 | CG | C | 1 | a0024 | 1 | NA18950.hp2 | frameshift_variant | HIGH | c.326delC | p.Pro109fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 6/14 | 438/2077 | 326/1650 | 109/549 | chr17 | 38188333 | |||
| chr17:38188824 | CT | C | 1 | a0017 | 1 | HG02818.hp1 | frameshift_variant&splice_region_variant | HIGH | c.278delA | p.Lys93fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/14 | 390/2077 | 278/1650 | 93/549 | chr17 | 38188824 | |||
| chr17:38188846 | T | TC | 1 | a0017 | 1 | HG02818.hp1 | frameshift_variant | HIGH | c.256dupG | p.Glu86fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/14 | 368/2077 | 256/1650 | 86/549 | chr17 | 38188846 | |||
| chr17:38188846 | TC | T | 1 | a0024 | 1 | NA18950.hp2 | frameshift_variant | HIGH | c.256delG | p.Glu86fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/14 | 368/2077 | 256/1650 | 86/549 | chr17 | 38188846 | |||
| chr17:38188854 | TC | T | 1 | a0016 | 1 | HG02738.hp2 | frameshift_variant | HIGH | c.248delG | p.Gly83fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/14 | 360/2077 | 248/1650 | 83/549 | chr17 | 38188854 | |||
| chr17:38188882 | CG | C | 1 | a0024 | 1 | NA18950.hp2 | frameshift_variant | HIGH | c.220delC | p.Arg74fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/14 | 332/2077 | 220/1650 | 74/549 | chr17 | 38188882 | |||
| chr17:38188898 | G | A | 1 | a0028 | 1 | NA20905.hp2 | missense_variant | MODERATE | c.205C>T | p.Arg69Trp | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/14 | 317/2077 | 205/1650 | 69/549 | chr17 | 38188898 | |||
| chr17:38190721 | CA | C | 1 | a0017 | 1 | HG02818.hp1 | frameshift_variant | HIGH | c.146delT | p.Leu49fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/14 | 258/2077 | 146/1650 | 49/549 | chr17 | 38190721 | |||
| chr17:38190762 | G | GC | 1 | a0015 | 1 | HG02738.hp1 | frameshift_variant | HIGH | c.105dupG | p.Pro36fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/14 | 217/2077 | 105/1650 | 35/549 | chr17 | 38190762 | |||
| chr17:38190981 | C | G | 1 | a0012 | 1 | HG01071.hp1 | missense_variant | MODERATE | c.49G>C | p.Asp17His | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 2/14 | 161/2077 | 49/1650 | 17/549 | chr17 | 38190981 | |||
| chr17:38190990 | CT | C | 1 | a0029 | 1 | NA21309.hp2 | frameshift_variant | HIGH | c.39delA | p.Glu14fs | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 2/14 | 151/2077 | 39/1650 | 13/549 | chr17 | 38190990 | |||
| chr17:38191023 | C | T | 1 | a0010 | 1 | HG00597.hp1 | missense_variant | MODERATE | c.7G>A | p.Val3Met | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 2/14 | 119/2077 | 7/1650 | 3/549 | chr17 | 38191023 |
| 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_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38182199 | C | T | 33 | a0001c0001a0002c0002a0002c0024others(30): Show | 70 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(67): Show |
synonymous_variant | LOW | c.1425G>A | p.Arg475Arg | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 1537/2077 | 1425/1650 | 475/549 | chr17 | 38182199 | |||
| chr17:38183660 | C | T | 1 | a0020c0023 | 1 | HG03453.hp1 | synonymous_variant | LOW | c.945G>A | p.Thr315Thr | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/14 | 1057/2077 | 945/1650 | 315/549 | chr17 | 38183660 | |||
| chr17:38184086 | A | G | 9 | a0002c0024a0004c0003a0005c0018others(6): Show | 16 | HG00438.hp2 HG01070.hp1 HG01070.hp2 others(13): Show |
synonymous_variant | LOW | c.889T>C | p.Leu297Leu | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/14 | 1001/2077 | 889/1650 | 297/549 | chr17 | 38184086 | |||
| chr17:38186538 | G | A | 15 | a0001c0001a0002c0002a0003c0005others(12): Show | 41 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(38): Show |
synonymous_variant | LOW | c.540C>T | p.Tyr180Tyr | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/14 | 652/2077 | 540/1650 | 180/549 | chr17 | 38186538 | |||
| chr17:38187874 | A | G | 2 | a0003c0006a0007c0010 | 4 | HG01361.hp1 HG01361.hp2 HG02818.hp2 others(1): Show |
synonymous_variant | LOW | c.457T>C | p.Leu153Leu | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/14 | 569/2077 | 457/1650 | 153/549 | chr17 | 38187874 | |||
| chr17:38190718 | C | A | 1 | a0023c0031 | 1 | NA18747.hp1 | synonymous_variant | LOW | c.150G>T | p.Gly50Gly | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/14 | 262/2077 | 150/1650 | 50/549 | chr17 | 38190718 | |||
| chr17:38190730 | G | A | 1 | a0014c0032 | 1 | HG02451.hp1 | synonymous_variant | LOW | c.138C>T | p.Val46Val | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/14 | 250/2077 | 138/1650 | 46/549 | chr17 | 38190730 | |||
| chr17:38191006 | G | A | 1 | a0012c0035 | 1 | HG01071.hp1 | synonymous_variant | LOW | c.24C>T | p.Gly8Gly | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 2/14 | 136/2077 | 24/1650 | 8/549 | chr17 | 38191006 |
| 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_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38181785 | G | C | 3 | a0005c0008t0005a0009c0011t0003a0029c0034t0008 | 5 | HG02717.hp2 HG02723.hp2 HG02809.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*189C>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 189 | chr17 | 38181785 | ||||||
| chr17:38181793 | T | C | 10 | a0003c0006t0004a0003c0007t0002a0005c0008t0005others(7): Show | 14 | HG01099.hp1 HG01361.hp1 HG01361.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*181A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 181 | chr17 | 38181793 | ||||||
| chr17:38181850 | C | T | 1 | a0003c0006t0004 | 2 | HG01361.hp1 HG01361.hp2 |
3_prime_UTR_variant | MODIFIER | c.*124G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 124 | chr17 | 38181850 | ||||||
| chr17:38181901 | C | T | 3 | a0009c0011t0003a0021c0025t0006a0029c0034t0008 | 4 | HG02809.hp2 HG03579.hp1 HG03579.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*73G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 73 | chr17 | 38181901 | ||||||
| chr17:38181907 | T | C | 1 | a0022c0015t0010 | 1 | HG04228.hp2 | 3_prime_UTR_variant | MODIFIER | c.*67A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 67 | chr17 | 38181907 | ||||||
| chr17:38181909 | C | T | 1 | a0002c0024t0007 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*65G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 14/14 | 65 | chr17 | 38181909 | ||||||
| chr17:38192472 | G | T | 1 | a0009c0011t0003 | 2 | HG02809.hp2 HG03579.hp1 |
5_prime_UTR_variant | MODIFIER | c.-29C>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/14 | 1443 | chr17 | 38192472 | ||||||
| chr17:38192475 | A | G | 1 | a0021c0025t0006 | 1 | HG03579.hp2 | 5_prime_UTR_variant | MODIFIER | c.-32T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/14 | 1446 | chr17 | 38192475 |
| 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_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:38182600 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.1082-58C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38182600 | |||||||
| chr17:38182620 | G | A | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1082-78C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38182620 | |||||||
| chr17:38182641 | T | C | 1 | a0002c0002t0001g0031 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1082-99A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38182641 | |||||||
| chr17:38182710 | A | G | 51 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(48): Show | 56 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1082-168T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38182710 | |||||||
| chr17:38183026 | GGCCCGGG others(11): Show |
G | 8 | a0003c0005t0001g0003a0003c0006t0004g0012a0003c0006t0004g0013others(5): Show | 9 | HG01071.hp1 HG01361.hp1 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.1081+480_1082-485d others(20): Show |
TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38183026 | |||||||
| chr17:38183284 | C | A | 2 | a0020c0023t0001g0020a0022c0015t0010g0023 | 2 | HG03453.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1081+240G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38183284 | |||||||
| chr17:38183313 | T | C | 1 | a0001c0001t0001g0064 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1081+211A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38183313 | |||||||
| chr17:38183333 | C | T | 1 | a0007c0010t0002g0015 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1081+191G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38183333 | |||||||
| chr17:38183474 | C | T | 1 | a0029c0034t0008g0017 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1081+50G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38183474 | |||||||
| chr17:38183514 | T | C | 1 | a0007c0010t0002g0015 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1081+10A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38183514 | |||||||
| chr17:38183519 | C | G | 1 | a0017c0013t0002g0046 | 1 | HG02818.hp1 | splice_region_variant&intron_variant | LOW | c.1081+5G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 13/13 | chr17 | 38183519 | |||||||
| chr17:38183735 | C | T | 3 | a0003c0005t0001g0003a0020c0023t0001g0020a0022c0015t0010g0023 | 4 | HG02451.hp2 HG02809.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.929-59G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/13 | chr17 | 38183735 | |||||||
| chr17:38183805 | T | C | 42 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(39): Show | 47 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.929-129A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/13 | chr17 | 38183805 | |||||||
| chr17:38183862 | C | T | 3 | a0009c0011t0003g0005a0009c0011t0003g0006a0019c0027t0002g0011 | 3 | HG02809.hp2 HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.928+185G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/13 | chr17 | 38183862 | |||||||
| chr17:38183865 | C | T | 3 | a0009c0011t0003g0005a0009c0011t0003g0006a0019c0027t0002g0011 | 3 | HG02809.hp2 HG03041.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.928+182G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/13 | chr17 | 38183865 | |||||||
| chr17:38183872 | C | T | 1 | a0003c0005t0001g0033 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.928+175G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/13 | chr17 | 38183872 | |||||||
| chr17:38183884 | G | A | 1 | a0023c0031t0009g0019 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.928+163C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/13 | chr17 | 38183884 | |||||||
| chr17:38183929 | A | G | 3 | a0003c0005t0001g0003a0012c0035t0001g0024a0023c0031t0009g0019 | 4 | HG01071.hp1 HG02451.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.928+118T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/13 | chr17 | 38183929 | |||||||
| chr17:38183953 | A | C | 3 | a0003c0005t0001g0003a0020c0023t0001g0020a0023c0031t0009g0019 | 4 | HG02451.hp2 HG02809.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.928+94T>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/13 | chr17 | 38183953 | |||||||
| chr17:38184036 | C | T | 4 | a0009c0011t0003g0005a0009c0011t0003g0006a0019c0027t0002g0011others(1): Show | 4 | HG02809.hp2 HG03041.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.928+11G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 12/13 | chr17 | 38184036 | |||||||
| chr17:38184278 | C | T | 1 | a0007c0010t0002g0015 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.829-132G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 11/13 | chr17 | 38184278 | |||||||
| chr17:38184323 | T | C | 2 | a0006c0004t0001g0045a0007c0010t0002g0035 | 2 | NA18950.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.829-177A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 11/13 | chr17 | 38184323 | |||||||
| chr17:38184444 | G | T | 1 | a0023c0031t0009g0019 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.828+166C>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 11/13 | chr17 | 38184444 | |||||||
| chr17:38184461 | C | T | 1 | a0023c0031t0009g0019 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.828+149G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 11/13 | chr17 | 38184461 | |||||||
| chr17:38184749 | C | G | 1 | a0021c0025t0006g0004 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.763-74G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 10/13 | chr17 | 38184749 | |||||||
| chr17:38184850 | C | T | 12 | a0002c0002t0001g0007a0002c0002t0001g0025a0002c0002t0001g0026others(9): Show | 12 | HG01261.hp1 HG01358.hp1 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.763-175G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 10/13 | chr17 | 38184850 | |||||||
| chr17:38184943 | A | G | 7 | a0004c0003t0001g0038a0006c0004t0001g0042a0006c0004t0001g0044others(4): Show | 7 | HG01099.hp2 HG02027.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.762+117T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 10/13 | chr17 | 38184943 | |||||||
| chr17:38184946 | C | A | 11 | a0002c0002t0001g0007a0002c0002t0001g0025a0002c0002t0001g0026others(8): Show | 11 | HG01261.hp1 HG01358.hp1 HG01433.hp2 others(8): Show |
intron_variant | MODIFIER | c.762+114G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 10/13 | chr17 | 38184946 | |||||||
| chr17:38184987 | T | C | 1 | a0023c0031t0009g0019 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.762+73A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 10/13 | chr17 | 38184987 | |||||||
| chr17:38185009 | T | C | 64 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(61): Show | 70 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.762+51A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 10/13 | chr17 | 38185009 | |||||||
| chr17:38185218 | T | C | 64 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(61): Show | 70 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.668-64A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185218 | |||||||
| chr17:38185271 | A | G | 15 | a0002c0024t0007g0036a0004c0003t0001g0018a0004c0003t0001g0037others(12): Show | 15 | HG00438.hp2 HG01070.hp1 HG01070.hp2 others(12): Show |
intron_variant | MODIFIER | c.668-117T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185271 | |||||||
| chr17:38185301 | C | T | 1 | a0003c0007t0002g0002 | 2 | HG02717.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.668-147G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185301 | |||||||
| chr17:38185403 | C | T | 1 | a0006c0004t0001g0042 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.668-249G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185403 | |||||||
| chr17:38185426 | G | A | 2 | a0003c0006t0004g0012a0003c0006t0004g0013 | 2 | HG01361.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.668-272C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185426 | |||||||
| chr17:38185470 | A | G | 30 | a0001c0001t0001g0059a0001c0001t0001g0062a0002c0002t0001g0007others(27): Show | 30 | HG00438.hp2 HG01070.hp1 HG01070.hp2 others(27): Show |
intron_variant | MODIFIER | c.668-316T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185470 | |||||||
| chr17:38185511 | C | G | 1 | a0020c0023t0001g0020 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.667+357G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185511 | |||||||
| chr17:38185517 | G | A | 41 | a0001c0001t0001g0059a0001c0001t0001g0062a0002c0002t0001g0007others(38): Show | 43 | HG00438.hp2 HG01070.hp1 HG01070.hp2 others(40): Show |
intron_variant | MODIFIER | c.667+351C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185517 | |||||||
| chr17:38185542 | A | G | 1 | a0003c0007t0002g0002 | 2 | HG02717.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.667+326T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185542 | |||||||
| chr17:38185546 | C | T | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.667+322G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185546 | |||||||
| chr17:38185547 | G | A | 1 | a0019c0027t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.667+321C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185547 | |||||||
| chr17:38185606 | G | C | 1 | a0001c0001t0001g0057 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.667+262C>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185606 | |||||||
| chr17:38185643 | C | T | 2 | a0003c0005t0001g0003a0012c0035t0001g0024 | 3 | HG01071.hp1 HG02451.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.667+225G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185643 | |||||||
| chr17:38185679 | G | C | 24 | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0060others(21): Show | 25 | HG00741.hp1 HG00741.hp2 HG01070.hp2 others(22): Show |
intron_variant | MODIFIER | c.667+189C>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185679 | |||||||
| chr17:38185683 | C | G | 2 | a0009c0011t0003g0005a0009c0011t0003g0006 | 2 | HG02809.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.667+185G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185683 | |||||||
| chr17:38185684 | G | A | 1 | a0004c0003t0001g0039 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.667+184C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185684 | |||||||
| chr17:38185709 | C | T | 1 | a0004c0003t0001g0039 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.667+159G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185709 | |||||||
| chr17:38185743 | C | T | 4 | a0003c0005t0001g0003a0005c0008t0005g0016a0022c0015t0010g0023others(1): Show | 5 | HG02451.hp2 HG02717.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.667+125G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185743 | |||||||
| chr17:38185806 | T | C | 7 | a0009c0011t0003g0005a0009c0011t0003g0006a0012c0035t0001g0024others(4): Show | 7 | HG01071.hp1 HG02809.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.667+62A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 9/13 | chr17 | 38185806 | |||||||
| chr17:38186018 | C | T | 1 | a0003c0005t0001g0003 | 2 | HG02451.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.547-30G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186018 | |||||||
| chr17:38186044 | C | T | 62 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(59): Show | 68 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.547-56G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186044 | |||||||
| chr17:38186045 | G | T | 1 | a0007c0010t0002g0015 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.547-57C>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186045 | |||||||
| chr17:38186258 | CAGG | C | 6 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0062others(3): Show | 6 | HG01358.hp2 HG02129.hp2 HG02738.hp2 others(3): Show |
intron_variant | MODIFIER | c.546+271_547-271del others(3): Show |
TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186258 | |||||||
| chr17:38186323 | A | C | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.546+209T>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186323 | |||||||
| chr17:38186323 | A | G | 2 | a0020c0023t0001g0020a0023c0031t0009g0019 | 2 | HG03453.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.546+209T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186323 | |||||||
| chr17:38186324 | G | A | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.546+208C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186324 | |||||||
| chr17:38186337 | T | C | 11 | a0002c0024t0007g0036a0003c0006t0004g0012a0003c0006t0004g0013others(8): Show | 12 | HG01070.hp1 HG01070.hp2 HG01361.hp1 others(9): Show |
intron_variant | MODIFIER | c.546+195A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186337 | |||||||
| chr17:38186367 | C | T | 4 | a0009c0011t0003g0005a0009c0011t0003g0006a0019c0027t0002g0011others(1): Show | 4 | HG02809.hp2 HG03041.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.546+165G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186367 | |||||||
| chr17:38186444 | T | G | 19 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(16): Show | 23 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(20): Show |
intron_variant | MODIFIER | c.546+88A>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186444 | |||||||
| chr17:38186505 | G | A | 1 | a0009c0011t0003g0006 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.546+27C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 8/13 | chr17 | 38186505 | |||||||
| chr17:38186594 | A | G | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.498-14T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186594 | |||||||
| chr17:38186681 | T | G | 5 | a0009c0011t0003g0005a0009c0011t0003g0006a0014c0032t0001g0029others(2): Show | 5 | HG02451.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.498-101A>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186681 | |||||||
| chr17:38186722 | T | C | 7 | a0006c0004t0001g0042a0006c0004t0001g0044a0006c0004t0001g0045others(4): Show | 7 | HG00438.hp2 HG01070.hp1 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.498-142A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186722 | |||||||
| chr17:38186813 | A | AT | 11 | a0003c0006t0004g0012a0003c0006t0004g0013a0004c0003t0001g0039others(8): Show | 11 | HG01071.hp1 HG01361.hp1 HG01361.hp2 others(8): Show |
intron_variant | MODIFIER | c.498-234dupA | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186813 | |||||||
| chr17:38186813 | A | ATT | 13 | a0002c0024t0007g0036a0004c0003t0001g0037a0004c0003t0001g0038others(10): Show | 13 | HG00438.hp2 HG01070.hp1 HG01099.hp2 others(10): Show |
intron_variant | MODIFIER | c.498-235_498-234dup others(2): Show |
TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186813 | |||||||
| chr17:38186813 | ATTTTT | A | 25 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(22): Show | 31 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(28): Show |
intron_variant | MODIFIER | c.498-238_498-234del others(5): Show |
TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186813 | |||||||
| chr17:38186838 | T | C | 63 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(60): Show | 69 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
intron_variant | MODIFIER | c.498-258A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186838 | |||||||
| chr17:38186888 | A | G | 48 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(45): Show | 54 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.498-308T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186888 | |||||||
| chr17:38186899 | T | C | 1 | a0001c0001t0001g0050 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.498-319A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186899 | |||||||
| chr17:38186973 | C | A | 3 | a0003c0005t0001g0003a0020c0023t0001g0020a0022c0015t0010g0023 | 4 | HG02451.hp2 HG02809.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.498-393G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186973 | |||||||
| chr17:38186999 | T | C | 63 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(60): Show | 69 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
intron_variant | MODIFIER | c.498-419A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38186999 | |||||||
| chr17:38187003 | G | A | 1 | a0021c0025t0006g0004 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.498-423C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187003 | |||||||
| chr17:38187073 | G | T | 32 | a0002c0024t0007g0036a0003c0005t0001g0003a0003c0006t0004g0012others(29): Show | 34 | HG00438.hp2 HG01070.hp1 HG01070.hp2 others(31): Show |
intron_variant | MODIFIER | c.498-493C>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187073 | |||||||
| chr17:38187129 | C | A | 1 | a0023c0031t0009g0019 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.498-549G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187129 | |||||||
| chr17:38187167 | C | G | 2 | a0003c0006t0004g0012a0003c0006t0004g0013 | 2 | HG01361.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.498-587G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187167 | |||||||
| chr17:38187177 | C | T | 1 | a0021c0025t0006g0004 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.498-597G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187177 | |||||||
| chr17:38187231 | G | A | 1 | a0006c0004t0001g0045 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.497+603C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187231 | |||||||
| chr17:38187353 | G | C | 1 | a0020c0023t0001g0020 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.497+481C>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187353 | |||||||
| chr17:38187391 | G | T | 2 | a0020c0023t0001g0020a0023c0031t0009g0019 | 2 | HG03453.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.497+443C>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187391 | |||||||
| chr17:38187494 | GC | G | 1 | a0003c0005t0001g0003 | 2 | HG02451.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.497+339delG | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187494 | |||||||
| chr17:38187495 | C | G | 38 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(35): Show | 42 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(39): Show |
intron_variant | MODIFIER | c.497+339G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187495 | |||||||
| chr17:38187498 | G | T | 17 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(14): Show | 21 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(18): Show |
intron_variant | MODIFIER | c.497+336C>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187498 | |||||||
| chr17:38187531 | G | A | 6 | a0006c0004t0001g0042a0006c0004t0001g0045a0006c0004t0001g0066others(3): Show | 6 | HG00438.hp2 HG01070.hp1 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.497+303C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187531 | |||||||
| chr17:38187694 | G | A | 2 | a0009c0011t0003g0005a0009c0011t0003g0006 | 2 | HG02809.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.497+140C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187694 | |||||||
| chr17:38187824 | G | A | 2 | a0020c0023t0001g0020a0023c0031t0009g0019 | 2 | HG03453.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.497+10C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 7/13 | chr17 | 38187824 | |||||||
| chr17:38188033 | C | T | 4 | a0009c0011t0003g0005a0009c0011t0003g0006a0019c0027t0002g0011others(1): Show | 4 | HG02809.hp2 HG03041.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.388-90G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 6/13 | chr17 | 38188033 | |||||||
| chr17:38188229 | C | A | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.387+44G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 6/13 | chr17 | 38188229 | |||||||
| chr17:38188385 | G | A | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | splice_region_variant&intron_variant | LOW | c.280-5C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/13 | chr17 | 38188385 | |||||||
| chr17:38188396 | G | A | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.280-16C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/13 | chr17 | 38188396 | |||||||
| chr17:38188487 | T | G | 1 | a0003c0005t0001g0033 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.280-107A>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/13 | chr17 | 38188487 | |||||||
| chr17:38188517 | C | T | 1 | a0006c0004t0001g0042 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.280-137G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/13 | chr17 | 38188517 | |||||||
| chr17:38188550 | C | G | 2 | a0003c0006t0004g0012a0003c0006t0004g0013 | 2 | HG01361.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.280-170G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/13 | chr17 | 38188550 | |||||||
| chr17:38188593 | C | A | 60 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(57): Show | 66 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.280-213G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 5/13 | chr17 | 38188593 | |||||||
| chr17:38189042 | G | A | 1 | a0015c0033t0001g0021 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.199-138C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 4/13 | chr17 | 38189042 | |||||||
| chr17:38189160 | G | A | 1 | a0029c0034t0008g0017 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.198+227C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 4/13 | chr17 | 38189160 | |||||||
| chr17:38189202 | A | G | 1 | a0023c0031t0009g0019 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.198+185T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 4/13 | chr17 | 38189202 | |||||||
| chr17:38189278 | G | T | 1 | a0012c0035t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.198+109C>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 4/13 | chr17 | 38189278 | |||||||
| chr17:38189293 | G | A | 2 | a0020c0023t0001g0020a0023c0031t0009g0019 | 2 | HG03453.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.198+94C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 4/13 | chr17 | 38189293 | |||||||
| chr17:38189361 | A | T | 1 | a0002c0002t0001g0032 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.198+26T>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 4/13 | chr17 | 38189361 | |||||||
| chr17:38189601 | G | C | 17 | a0001c0001t0001g0001a0001c0001t0001g0052a0001c0001t0001g0057others(14): Show | 21 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(18): Show |
intron_variant | MODIFIER | c.159-175C>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189601 | |||||||
| chr17:38189601 | G | T | 1 | a0001c0001t0001g0051 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.159-175C>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189601 | |||||||
| chr17:38189644 | G | A | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.159-218C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189644 | |||||||
| chr17:38189665 | G | A | 1 | a0023c0031t0009g0019 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.159-239C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189665 | |||||||
| chr17:38189674 | G | A | 1 | a0001c0001t0001g0064 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.159-248C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189674 | |||||||
| chr17:38189688 | A | G | 1 | a0003c0006t0004g0012 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.159-262T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189688 | |||||||
| chr17:38189700 | G | C | 7 | a0002c0002t0001g0007a0002c0002t0001g0025a0002c0002t0001g0026others(4): Show | 7 | HG02273.hp1 HG02273.hp2 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.159-274C>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189700 | |||||||
| chr17:38189862 | G | A | 1 | a0014c0032t0001g0029 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.159-436C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189862 | |||||||
| chr17:38189891 | C | A | 1 | a0020c0023t0001g0020 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.159-465G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189891 | |||||||
| chr17:38189900 | C | T | 6 | a0002c0002t0001g0007a0002c0002t0001g0025a0002c0002t0001g0026others(3): Show | 6 | HG02273.hp1 HG02273.hp2 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.159-474G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189900 | |||||||
| chr17:38189919 | G | A | 1 | a0012c0035t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.159-493C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189919 | |||||||
| chr17:38189961 | A | G | 2 | a0001c0001t0001g0050a0002c0002t0001g0032 | 2 | HG01071.hp2 HG01433.hp2 |
intron_variant | MODIFIER | c.159-535T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189961 | |||||||
| chr17:38189971 | C | T | 1 | a0021c0025t0006g0004 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.159-545G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189971 | |||||||
| chr17:38189992 | G | C | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.159-566C>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189992 | |||||||
| chr17:38189997 | G | T | 3 | a0009c0011t0003g0005a0009c0011t0003g0006a0021c0025t0006g0004 | 3 | HG02809.hp2 HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.159-571C>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38189997 | |||||||
| chr17:38190069 | C | T | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.158+641G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190069 | |||||||
| chr17:38190090 | C | T | 1 | a0023c0031t0009g0019 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.158+620G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190090 | |||||||
| chr17:38190195 | CT | C | 3 | a0009c0011t0003g0005a0009c0011t0003g0006a0021c0025t0006g0004 | 3 | HG02809.hp2 HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.158+514delA | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190195 | |||||||
| chr17:38190267 | T | C | 1 | a0014c0032t0001g0029 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.158+443A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190267 | |||||||
| chr17:38190322 | C | G | 64 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(61): Show | 70 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.158+388G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190322 | |||||||
| chr17:38190348 | A | C | 64 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(61): Show | 70 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.158+362T>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190348 | |||||||
| chr17:38190390 | T | G | 63 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(60): Show | 69 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
intron_variant | MODIFIER | c.158+320A>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190390 | |||||||
| chr17:38190509 | C | T | 4 | a0002c0002t0001g0025a0014c0032t0001g0029a0015c0033t0001g0021others(1): Show | 4 | HG02451.hp1 HG02738.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.158+201G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190509 | |||||||
| chr17:38190579 | T | C | 1 | a0004c0003t0001g0018 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.158+131A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190579 | |||||||
| chr17:38190628 | G | A | 1 | a0003c0005t0001g0003 | 2 | HG02451.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.158+82C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190628 | |||||||
| chr17:38190682 | AG | A | 3 | a0017c0013t0002g0046a0024c0029t0001g0041a0029c0034t0008g0017 | 3 | HG02818.hp1 NA18950.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.158+27delC | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190682 | |||||||
| chr17:38190683 | G | A | 1 | a0007c0010t0002g0015 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.158+27C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 3/13 | chr17 | 38190683 | |||||||
| chr17:38190908 | C | G | 1 | a0023c0031t0009g0019 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.72+50G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 2/13 | chr17 | 38190908 | |||||||
| chr17:38191061 | C | T | 21 | a0002c0002t0001g0025a0002c0002t0001g0026a0002c0002t0001g0027others(18): Show | 23 | HG01070.hp2 HG01071.hp1 HG01261.hp1 others(20): Show |
intron_variant | MODIFIER | c.-1-31G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191061 | |||||||
| chr17:38191068 | G | C | 1 | a0022c0015t0010g0023 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-1-38C>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191068 | |||||||
| chr17:38191102 | G | A | 1 | a0001c0001t0001g0065 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-1-72C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191102 | |||||||
| chr17:38191158 | A | C | 2 | a0009c0011t0003g0005a0009c0011t0003g0006 | 2 | HG02809.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-1-128T>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191158 | |||||||
| chr17:38191182 | A | G | 1 | a0003c0005t0001g0003 | 2 | HG02451.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.-1-152T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191182 | |||||||
| chr17:38191229 | A | G | 8 | a0002c0002t0001g0032a0003c0005t0001g0003a0003c0006t0004g0012others(5): Show | 9 | HG01361.hp1 HG01361.hp2 HG01433.hp2 others(6): Show |
intron_variant | MODIFIER | c.-1-199T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191229 | |||||||
| chr17:38191308 | T | C | 66 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(63): Show | 72 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(69): Show |
intron_variant | MODIFIER | c.-1-278A>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191308 | |||||||
| chr17:38191397 | G | A | 1 | a0005c0008t0005g0016 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-1-367C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191397 | |||||||
| chr17:38191443 | C | G | 1 | a0012c0035t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.-1-413G>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191443 | |||||||
| chr17:38191448 | C | A | 1 | a0012c0035t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.-1-418G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191448 | |||||||
| chr17:38191484 | C | T | 2 | a0003c0006t0004g0012a0003c0006t0004g0013 | 2 | HG01361.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.-1-454G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191484 | |||||||
| chr17:38191595 | G | A | 1 | a0012c0035t0001g0024 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.-1-565C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191595 | |||||||
| chr17:38191603 | A | G | 43 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(40): Show | 49 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(46): Show |
intron_variant | MODIFIER | c.-1-573T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191603 | |||||||
| chr17:38191670 | C | A | 1 | a0021c0025t0006g0004 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-1-640G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191670 | |||||||
| chr17:38191671 | G | A | 1 | a0002c0002t0001g0032 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-1-641C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191671 | |||||||
| chr17:38191736 | G | A | 20 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(17): Show | 24 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(21): Show |
intron_variant | MODIFIER | c.-1-706C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191736 | |||||||
| chr17:38191795 | C | T | 21 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(18): Show | 25 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(22): Show |
intron_variant | MODIFIER | c.-2+650G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191795 | |||||||
| chr17:38191916 | G | C | 1 | a0017c0013t0002g0046 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-2+529C>G | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191916 | |||||||
| chr17:38191919 | GCCCAAGG others(11): Show |
G | 1 | a0029c0034t0008g0017 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-2+508_-2+525delGA others(16): Show |
TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38191919 | |||||||
| chr17:38192024 | T | TCAGTGGA others(7): Show |
55 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(52): Show | 60 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.-2+420_-2+421insGT others(12): Show |
TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192024 | |||||||
| chr17:38192031 | C | A | 8 | a0003c0006t0004g0012a0003c0006t0004g0013a0003c0007t0002g0002others(5): Show | 9 | HG01361.hp1 HG01361.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.-2+414G>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192031 | |||||||
| chr17:38192035 | G | A | 55 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(52): Show | 60 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.-2+410C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192035 | |||||||
| chr17:38192058 | A | G | 1 | a0003c0007t0002g0002 | 2 | HG02717.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.-2+387T>C | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192058 | |||||||
| chr17:38192059 | G | A | 1 | a0003c0005t0001g0033 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-2+386C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192059 | |||||||
| chr17:38192177 | G | A | 14 | a0002c0024t0007g0036a0004c0003t0001g0037a0004c0003t0001g0038others(11): Show | 14 | HG00438.hp2 HG01070.hp1 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.-2+268C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192177 | |||||||
| chr17:38192186 | G | A | 3 | a0007c0026t0002g0047a0009c0011t0003g0005a0009c0011t0003g0006 | 3 | HG02809.hp2 HG03041.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-2+259C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192186 | |||||||
| chr17:38192236 | G | A | 1 | a0021c0025t0006g0004 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-2+209C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192236 | |||||||
| chr17:38192286 | C | T | 1 | a0002c0002t0001g0007 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-2+159G>A | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192286 | |||||||
| chr17:38192326 | G | A | 19 | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0051others(16): Show | 23 | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(20): Show |
intron_variant | MODIFIER | c.-2+119C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192326 | |||||||
| chr17:38192330 | G | A | 1 | a0006c0004t0001g0066 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-2+115C>T | TBC1D3 | ENSG00000274611.4 | transcript | ENST00000620215.3 | protein_coding | 1/13 | chr17 | 38192330 |