Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 85376 |
| ensemblid | ENSG00000275793.1 |
| hgncid | 29344 |
| symbol | RIMBP3 |
| name | RIMS binding protein 3 |
| refseq_nuc | NM_015672.2 |
| refseq_prot | NP_056487.1 |
| ensembl_nuc | ENST00000619918.1 |
| ensembl_prot | ENSP00000483386.1 |
| mane_status | MANE Select |
| chr | chr22 |
| start | 18605815 |
| end | 18611919 |
| strand | - |
| ver | v1.2 |
| region | chr22:18605815-18611919 |
| region5000 | chr22:18600815-18616919 |
| regionname0 | RIMBP3_chr22_18605815_18611919 |
| regionname5000 | RIMBP3_chr22_18600815_18616919 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 1639 | 7 | 3 | 3 | 0 | 0 | 1 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0002 | 0/0 | 1639 | 2 | 0 | 1 | 0 | 0 | 1 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0003 | 0/0 | 1639 | 3 | 2 | 0 | 0 | 0 | 1 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0004 | 0/0 | 1639 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0005 | 0/0 | 1639 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0006 | 0/0 | 1639 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0007 | 0/0 | 1639 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0008 | 0/0 | 1639 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0009 | 0/0 | 1639 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0010 | 0/0 | 1639 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0011 | 0/0 | 1641 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1636): Show |
chr22 | 18600815 | 18616919 |
| a0012 | 0/0 | 1639 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0013 | 0/0 | 1639 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0014 | 0/0 | 1639 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0015 | 0/0 | 1641 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1636): Show |
chr22 | 18600815 | 18616919 |
| a0016 | 0/0 | 1639 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| a0017 | 0/0 | 1639 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | MAKDS others(1634): Show |
chr22 | 18600815 | 18616919 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 4917 | 6 | 2 | 3 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0001c0010 | 0/0 | 4917 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0002c0003 | 0/0 | 4917 | 2 | 0 | 1 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0003c0006 | 0/0 | 4917 | 2 | 2 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0003c0008 | 0/0 | 4917 | 1 | 0 | 0 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0004c0002 | 0/0 | 4917 | 3 | 3 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0005c0004 | 0/0 | 4917 | 2 | 1 | 1 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0006c0005 | 0/0 | 4917 | 2 | 2 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0007c0007 | 0/0 | 4917 | 1 | 0 | 1 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0008c0018 | 0/0 | 4917 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0009c0016 | 0/0 | 4917 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0010c0015 | 0/0 | 4917 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0011c0017 | 0/0 | 4923 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4918): Show |
chr22 | 18600815 | 18616919 | ||
| a0012c0013 | 0/0 | 4917 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0013c0011 | 0/0 | 4917 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0014c0012 | 0/0 | 4917 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0015c0019 | 0/0 | 4923 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4918): Show |
chr22 | 18600815 | 18616919 | ||
| a0016c0014 | 0/0 | 4917 | 1 | 0 | 0 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 | ||
| a0017c0009 | 0/0 | 4917 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | ATGGC others(4912): Show |
chr22 | 18600815 | 18616919 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 6105 | 6 | 2 | 3 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0001c0010t0001 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0002c0003t0001 | 0/0 | 6105 | 2 | 0 | 1 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0003c0006t0002 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0003c0006t0005 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0003c0008t0002 | 0/0 | 6105 | 1 | 0 | 0 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0004c0002t0003 | 0/0 | 6105 | 3 | 3 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0005c0004t0004 | 0/0 | 6105 | 2 | 1 | 1 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0006c0005t0002 | 0/0 | 6105 | 2 | 2 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0007c0007t0001 | 0/0 | 6105 | 1 | 0 | 1 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0008c0018t0002 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0009c0016t0001 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0010c0015t0006 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0011c0017t0002 | 0/0 | 6111 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6106): Show |
chr22 | 18600815 | 18616919 |
| a0012c0013t0001 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0013c0011t0001 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0014c0012t0001 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0015c0019t0002 | 0/0 | 6111 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6106): Show |
chr22 | 18600815 | 18616919 |
| a0016c0014t0001 | 0/0 | 6105 | 1 | 0 | 0 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| a0017c0009t0001 | 0/0 | 6105 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | CCAGC others(6100): Show |
chr22 | 18600815 | 18616919 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0000 | 0/0 | 6 | 2 | 3 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0001c0010t0001g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0002c0003t0001g0000 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0003c0006t0002g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0003c0006t0005g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0003c0008t0002g0000 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0004c0002t0003g0000 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0005c0004t0004g0000 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0006c0005t0002g0000 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0007c0007t0001g0000 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0008c0018t0002g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0009c0016t0001g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0010c0015t0006g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0011c0017t0002g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0012c0013t0001g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0013c0011t0001g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0014c0012t0001g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0015c0019t0002g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0016c0014t0001g0000 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| a0017c0009t0001g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG01243 | hp1 | a0005 | c0004 | t0004 | g0000 | AMR | PUR | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG01243 | hp2 | a0002 | c0003 | t0001 | g0000 | AMR | PUR | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG01975 | hp1 | a0007 | c0007 | t0001 | g0000 | AMR | PEL | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02280 | hp1 | a0008 | c0018 | t0002 | g0000 | AFR | ACB | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02280 | hp2 | a0009 | c0016 | t0001 | g0000 | AFR | ACB | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02622 | hp1 | a0010 | c0015 | t0006 | g0000 | AFR | GWD | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02622 | hp2 | a0011 | c0017 | t0002 | g0000 | AFR | GWD | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02723 | hp1 | a0012 | c0013 | t0001 | g0000 | AFR | GWD | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02723 | hp2 | a0006 | c0005 | t0002 | g0000 | AFR | GWD | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02738 | hp2 | a0002 | c0003 | t0001 | g0000 | SAS | PJL | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02922 | hp1 | a0005 | c0004 | t0004 | g0000 | AFR | ESN | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02922 | hp2 | a0003 | c0006 | t0002 | g0000 | AFR | ESN | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02970 | hp1 | a0004 | c0002 | t0003 | g0000 | AFR | ESN | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02970 | hp2 | a0013 | c0011 | t0001 | g0000 | AFR | ESN | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02976 | hp2 | a0004 | c0002 | t0003 | g0000 | AFR | ESN | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG03041 | hp1 | a0014 | c0012 | t0001 | g0000 | AFR | GWD | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG03041 | hp2 | a0004 | c0002 | t0003 | g0000 | AFR | GWD | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG03225 | hp1 | a0015 | c0019 | t0002 | g0000 | AFR | MSL | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG03225 | hp2 | a0006 | c0005 | t0002 | g0000 | AFR | MSL | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG03239 | hp1 | a0016 | c0014 | t0001 | g0000 | SAS | PJL | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG03239 | hp2 | a0003 | c0008 | t0002 | g0000 | SAS | PJL | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ACB | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| HG02559 | hp2 | a0003 | c0006 | t0005 | g0000 | AFR | ACB | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| NA21309 | hp1 | a0001 | c0010 | t0001 | g0000 | AFR | LWK | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| NA21309 | hp2 | a0017 | c0009 | t0001 | g0000 | AFR | LWK | RIMBP3_chr22_18600815_18616919 | RIMBP3 | chr22 | 18600815 | 18616919 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:18606631 | C | T | 3 | a0004 a0005 a0010 |
6 | HG01243.hp1 HG02622.hp1 HG02922.hp1 others(3): Show |
missense_variant | MODERATE | c.4804G>A | p.Val1602Met | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 5289/6105 | 4804/4920 | 1602/1639 | chr22 | 18606631 | |||
| chr22:18606774 | C | A | 2 | a0008 a0015 |
2 | HG02280.hp1 HG03225.hp1 |
missense_variant | MODERATE | c.4661G>T | p.Gly1554Val | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 5146/6105 | 4661/4920 | 1554/1639 | chr22 | 18606774 | |||
| chr22:18606829 | T | A | 1 | a0016 | 1 | HG03239.hp1 | missense_variant | MODERATE | c.4606A>T | p.Asn1536Tyr | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 5091/6105 | 4606/4920 | 1536/1639 | chr22 | 18606829 | |||
| chr22:18606829 | T | C | 1 | a0009 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.4606A>G | p.Asn1536Asp | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 5091/6105 | 4606/4920 | 1536/1639 | chr22 | 18606829 | |||
| chr22:18606829 | T | G | 8 | a0003 a0004 a0005 others(5): Show |
14 | HG01243.hp1 HG02280.hp1 HG02559.hp2 others(11): Show |
missense_variant | MODERATE | c.4606A>C | p.Asn1536His | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 5091/6105 | 4606/4920 | 1536/1639 | chr22 | 18606829 | |||
| chr22:18606846 | C | T | 1 | a0005 | 2 | HG01243.hp1 HG02922.hp1 |
missense_variant | MODERATE | c.4589G>A | p.Arg1530His | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 5074/6105 | 4589/4920 | 1530/1639 | chr22 | 18606846 | |||
| chr22:18606898 | G | A | 1 | a0009 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.4537C>T | p.Arg1513Cys | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 5022/6105 | 4537/4920 | 1513/1639 | chr22 | 18606898 | |||
| chr22:18607264 | A | G | 1 | a0009 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.4171T>C | p.Trp1391Arg | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4656/6105 | 4171/4920 | 1391/1639 | chr22 | 18607264 | |||
| chr22:18607303 | C | T | 4 | a0004 a0005 a0010 others(1): Show |
7 | HG01243.hp1 HG02622.hp1 HG02922.hp1 others(4): Show |
missense_variant | MODERATE | c.4132G>A | p.Val1378Ile | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4617/6105 | 4132/4920 | 1378/1639 | chr22 | 18607303 | |||
| chr22:18607494 | G | T | 14 | a0001 a0003 a0004 others(11): Show |
26 | HG00642.hp1 HG00642.hp2 HG01243.hp1 others(23): Show |
missense_variant | MODERATE | c.3941C>A | p.Ser1314Tyr | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4426/6105 | 3941/4920 | 1314/1639 | chr22 | 18607494 | |||
| chr22:18607516 | G | T | 6 | a0003 a0006 a0011 others(3): Show |
9 | HG02559.hp2 HG02622.hp2 HG02723.hp2 others(6): Show |
missense_variant | MODERATE | c.3919C>A | p.Pro1307Thr | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4404/6105 | 3919/4920 | 1307/1639 | chr22 | 18607516 | |||
| chr22:18607618 | T | C | 4 | a0004 a0005 a0010 others(1): Show |
7 | HG01243.hp1 HG02622.hp1 HG02922.hp1 others(4): Show |
missense_variant | MODERATE | c.3817A>G | p.Ser1273Gly | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4302/6105 | 3817/4920 | 1273/1639 | chr22 | 18607618 | |||
| chr22:18607647 | T | G | 1 | a0014 | 1 | HG03041.hp1 | missense_variant | MODERATE | c.3788A>C | p.Glu1263Ala | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4273/6105 | 3788/4920 | 1263/1639 | chr22 | 18607647 | |||
| chr22:18607798 | C | T | 2 | a0006 a0011 |
3 | HG02622.hp2 HG02723.hp2 HG03225.hp2 |
missense_variant | MODERATE | c.3637G>A | p.Val1213Ile | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4122/6105 | 3637/4920 | 1213/1639 | chr22 | 18607798 | |||
| chr22:18608162 | A | C | 2 | a0007 a0016 |
2 | HG01975.hp1 HG03239.hp1 |
missense_variant | MODERATE | c.3273T>G | p.Asp1091Glu | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 3758/6105 | 3273/4920 | 1091/1639 | chr22 | 18608162 | |||
| chr22:18608233 | A | ACACCTG | 2 | a0011 a0015 |
2 | HG02622.hp2 HG03225.hp1 |
conservative_inframe_insertion | MODERATE | c.3196_3201dupCAGGTG | p.Val1067_Tyr1068ins others(6): Show |
RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 3686/6105 | 3201/4920 | 1067/1639 | chr22 | 18608233 | |||
| chr22:18608251 | G | A | 2 | a0012 a0015 |
2 | HG02723.hp1 HG03225.hp1 |
missense_variant | MODERATE | c.3184C>T | p.Arg1062Trp | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 3669/6105 | 3184/4920 | 1062/1639 | chr22 | 18608251 | |||
| chr22:18608274 | G | A | 1 | a0016 | 1 | HG03239.hp1 | missense_variant | MODERATE | c.3161C>T | p.Ala1054Val | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 3646/6105 | 3161/4920 | 1054/1639 | chr22 | 18608274 | |||
| chr22:18608584 | C | T | 2 | a0006 a0011 |
3 | HG02622.hp2 HG02723.hp2 HG03225.hp2 |
missense_variant | MODERATE | c.2851G>A | p.Gly951Ser | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 3336/6105 | 2851/4920 | 951/1639 | chr22 | 18608584 | |||
| chr22:18608789 | C | G | 3 | a0006 a0010 a0011 |
4 | HG02622.hp1 HG02622.hp2 HG02723.hp2 others(1): Show |
missense_variant | MODERATE | c.2646G>C | p.Glu882Asp | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 3131/6105 | 2646/4920 | 882/1639 | chr22 | 18608789 | |||
| chr22:18610126 | T | C | 1 | a0009 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.1309A>G | p.Lys437Glu | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 1794/6105 | 1309/4920 | 437/1639 | chr22 | 18610126 | |||
| chr22:18610248 | G | T | 1 | a0009 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.1187C>A | p.Ala396Glu | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 1672/6105 | 1187/4920 | 396/1639 | chr22 | 18610248 | |||
| chr22:18610564 | C | G | 2 | a0004 a0010 |
4 | HG02622.hp1 HG02970.hp1 HG02976.hp2 others(1): Show |
missense_variant | MODERATE | c.871G>C | p.Ala291Pro | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 1356/6105 | 871/4920 | 291/1639 | chr22 | 18610564 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:18607193 | C | G | 16 | a0001c0001 a0003c0006 a0003c0008 others(13): Show |
26 | HG00642.hp1 HG00642.hp2 HG01243.hp1 others(23): Show |
synonymous_variant | LOW | c.4242G>C | p.Val1414Val | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4727/6105 | 4242/4920 | 1414/1639 | chr22 | 18607193 | |||
| chr22:18607337 | G | A | 13 | a0001c0001 a0003c0006 a0003c0008 others(10): Show |
21 | HG00642.hp1 HG00642.hp2 HG01243.hp1 others(18): Show |
synonymous_variant | LOW | c.4098C>T | p.Gly1366Gly | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4583/6105 | 4098/4920 | 1366/1639 | chr22 | 18607337 | |||
| chr22:18607481 | G | A | 4 | a0004c0002 a0005c0004 a0010c0015 others(1): Show |
7 | HG01243.hp1 HG02622.hp1 HG02922.hp1 others(4): Show |
synonymous_variant | LOW | c.3954C>T | p.Gly1318Gly | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 4439/6105 | 3954/4920 | 1318/1639 | chr22 | 18607481 | |||
| chr22:18611225 | T | C | 8 | a0003c0006 a0004c0002 a0006c0005 others(5): Show |
12 | HG02280.hp1 HG02280.hp2 HG02559.hp2 others(9): Show |
synonymous_variant | LOW | c.210A>G | p.Arg70Arg | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 695/6105 | 210/4920 | 70/1639 | chr22 | 18611225 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr22:18605846 | A | G | 7 | a0003c0006t0002 a0003c0006t0005 a0003c0008t0002 others(4): Show |
8 | HG02280.hp1 HG02559.hp2 HG02622.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*669T>C | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 669 | chr22 | 18605846 | ||||||
| chr22:18605970 | A | G | 1 | a0004c0002t0003 | 3 | HG02970.hp1 HG02976.hp2 HG03041.hp2 |
3_prime_UTR_variant | MODIFIER | c.*545T>C | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 545 | chr22 | 18605970 | ||||||
| chr22:18606004 | A | C | 2 | a0005c0004t0004 a0010c0015t0006 |
3 | HG01243.hp1 HG02622.hp1 HG02922.hp1 |
3_prime_UTR_variant | MODIFIER | c.*511T>G | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 511 | chr22 | 18606004 | ||||||
| chr22:18606215 | C | T | 3 | a0004c0002t0003 a0005c0004t0004 a0010c0015t0006 |
6 | HG01243.hp1 HG02622.hp1 HG02922.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*300G>A | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 300 | chr22 | 18606215 | ||||||
| chr22:18606361 | G | A | 6 | a0003c0006t0002 a0003c0008t0002 a0006c0005t0002 others(3): Show |
7 | HG02280.hp1 HG02622.hp2 HG02723.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*154C>T | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 154 | chr22 | 18606361 | ||||||
| chr22:18611666 | T | G | 2 | a0004c0002t0003 a0010c0015t0006 |
4 | HG02622.hp1 HG02970.hp1 HG02976.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-232A>C | RIMBP3 | ENSG00000275793.1 | transcript | ENST00000619918.1 | protein_coding | 1/1 | 232 | chr22 | 18611666 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|