Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 643909 |
| ensemblid | ENSG00000262461.7 |
| hgncid | 45034 |
| symbol | SPDYE9 |
| name | speedy/RINGO cell cycle regulator family member E9 |
| refseq_nuc | NM_001382554.3 |
| refseq_prot | NP_001369483.1 |
| ensembl_nuc | ENST00000575125.6 |
| ensembl_prot | ENSP00000498945.1 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 73075972 |
| end | 73086038 |
| strand | - |
| ver | v1.2 |
| region | chr7:73075972-73086038 |
| region5000 | chr7:73070972-73091038 |
| regionname0 | SPDYE9_chr7_73075972_73086038 |
| regionname5000 | SPDYE9_chr7_73070972_73091038 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 265 | 157 | 20 | 31 | 86 | 6 | 14 | 58 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | MGQIL others(260): Show |
chr7 | 73070972 | 73091038 |
| a0002 | 0/0 | 265 | 6 | 5 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | MGQIL others(260): Show |
chr7 | 73070972 | 73091038 |
| a0003 | 0/0 | 39 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | MTWRR others(34): Show |
chr7 | 73070972 | 73091038 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 795 | 157 | 20 | 31 | 86 | 6 | 14 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | ATGGG others(790): Show |
chr7 | 73070972 | 73091038 | ||
| a0002c0002 | 0/0 | 795 | 6 | 5 | 1 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | ATGGG others(790): Show |
chr7 | 73070972 | 73091038 | ||
| a0003c0003 | 0/0 | 301 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | CTATC others(296): Show |
chr7 | 73070972 | 73091038 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2900 | 60 | 8 | 8 | 34 | 3 | 7 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0001c0001t0002 | 0/0 | 2900 | 49 | 1 | 8 | 33 | 2 | 5 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0001c0001t0003 | 0/0 | 2900 | 29 | 2 | 8 | 17 | 1 | 1 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0001c0001t0004 | 0/0 | 2900 | 11 | 6 | 5 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0001c0001t0006 | 0/0 | 2900 | 4 | 1 | 1 | 1 | 0 | 1 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0001c0001t0007 | 0/0 | 2900 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0001c0001t0008 | 0/0 | 2900 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0001c0001t0009 | 0/0 | 2900 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0001c0001t0010 | 0/0 | 2900 | 1 | 0 | 1 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0002c0002t0005 | 0/0 | 2900 | 6 | 5 | 1 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | AACAA others(2895): Show |
chr7 | 73070972 | 73091038 |
| a0003c0003t0011 | 0/0 | 1831 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | CTATC others(1826): Show |
chr7 | 73070972 | 73091038 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 49 | 4 | 7 | 30 | 3 | 5 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0001g0009 | 0/0 | 3 | 0 | 1 | 1 | 0 | 1 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0001g0013 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0002g0002 | 0/0 | 29 | 1 | 8 | 15 | 0 | 5 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0002g0004 | 0/0 | 16 | 0 | 0 | 14 | 2 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0003g0003 | 0/0 | 22 | 0 | 6 | 15 | 0 | 1 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0003g0008 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0003g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0003g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0003g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0004g0005 | 0/0 | 7 | 4 | 3 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0004g0011 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0004g0012 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0006g0006 | 0/0 | 4 | 1 | 1 | 1 | 0 | 1 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0007g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0008g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0009g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0001c0001t0010g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0002c0002t0005g0007 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0002c0002t0005g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| a0003c0003t0011g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00408 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | CHS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG00408 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | CHS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG00423 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | CHS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | CHS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG00558 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | CHS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG00609 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | CHS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG00741 | hp1 | a0001 | c0001 | t0003 | g0003 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG00741 | hp2 | a0001 | c0001 | t0003 | g0008 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01069 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01069 | hp2 | a0001 | c0001 | t0004 | g0005 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01081 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01081 | hp2 | a0001 | c0001 | t0004 | g0005 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01099 | hp1 | a0001 | c0001 | t0003 | g0003 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01109 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01109 | hp2 | a0001 | c0001 | t0004 | g0005 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01169 | hp1 | a0001 | c0001 | t0004 | g0012 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01169 | hp2 | a0001 | c0001 | t0003 | g0008 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01175 | hp1 | a0001 | c0001 | t0003 | g0003 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01243 | hp1 | a0002 | c0002 | t0005 | g0007 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01243 | hp2 | a0001 | c0001 | t0004 | g0011 | AMR | PUR | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01255 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01255 | hp2 | a0001 | c0001 | t0010 | g0024 | AMR | CLM | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01256 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01516 | hp1 | a0001 | c0001 | t0002 | g0004 | EUR | IBS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01891 | hp1 | a0001 | c0001 | t0008 | g0023 | AFR | ACB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01891 | hp2 | a0001 | c0001 | t0006 | g0006 | AFR | ACB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01934 | hp1 | a0001 | c0001 | t0003 | g0003 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01934 | hp2 | a0001 | c0001 | t0006 | g0006 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01993 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02004 | hp1 | a0001 | c0001 | t0003 | g0003 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02015 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02056 | hp1 | a0001 | c0001 | t0002 | g0027 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02071 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02080 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02083 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02129 | hp1 | a0001 | c0001 | t0003 | g0030 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02129 | hp2 | a0001 | c0001 | t0007 | g0018 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02135 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02155 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | CDX | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | ACB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02280 | hp2 | a0001 | c0001 | t0009 | g0014 | AFR | ACB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02293 | hp2 | a0001 | c0001 | t0003 | g0003 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02300 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02451 | hp1 | a0002 | c0002 | t0005 | g0010 | AFR | ACB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02451 | hp2 | a0001 | c0001 | t0004 | g0005 | AFR | ACB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02723 | hp1 | a0001 | c0001 | t0004 | g0005 | AFR | GWD | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02723 | hp2 | a0003 | c0003 | t0011 | g0032 | AFR | GWD | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | GWD | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02895 | hp2 | a0001 | c0001 | t0004 | g0005 | AFR | GWD | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03017 | hp2 | a0001 | c0001 | t0003 | g0003 | SAS | PJL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03225 | hp1 | a0001 | c0001 | t0004 | g0012 | AFR | MSL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03225 | hp2 | a0002 | c0002 | t0005 | g0007 | AFR | MSL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03491 | hp2 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03516 | hp1 | a0001 | c0001 | t0004 | g0005 | AFR | ESN | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03579 | hp1 | a0001 | c0001 | t0004 | g0011 | AFR | MSL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03579 | hp2 | a0001 | c0001 | t0003 | g0028 | AFR | MSL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG04115 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | STU | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0009 | SAS | STU | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG04204 | hp1 | a0001 | c0001 | t0006 | g0006 | SAS | STU | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0013 | SAS | STU | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | STU | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | CHB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18747 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | CHB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18941 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18942 | hp2 | a0001 | c0001 | t0006 | g0006 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18943 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18946 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18947 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18951 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18957 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18964 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18964 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18966 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18970 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18984 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18992 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18992 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19000 | hp1 | a0001 | c0001 | t0003 | g0019 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19001 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19001 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19002 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19002 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19006 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19006 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19058 | hp1 | a0001 | c0001 | t0002 | g0031 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19060 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19065 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19065 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19068 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19070 | hp1 | a0001 | c0001 | t0002 | g0017 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19074 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19075 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19079 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19080 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19081 | hp1 | a0001 | c0001 | t0002 | g0020 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19081 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19090 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19090 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19240 | hp1 | a0002 | c0002 | t0005 | g0007 | AFR | YRI | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | YRI | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA20129 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | ASW | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA20752 | hp2 | a0001 | c0001 | t0003 | g0008 | EUR | TSI | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0004 | EUR | TSI | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02109 | hp1 | a0002 | c0002 | t0005 | g0010 | AFR | ACB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | USA | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| HG06807 | hp2 | a0001 | c0001 | t0003 | g0022 | AFR | USA | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18955 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| NA21309 | hp2 | a0002 | c0002 | t0005 | g0007 | AFR | LWK | SPDYE9_chr7_73070972_73091038 | SPDYE9 | chr7 | 73070972 | 73091038 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:73078680 | T | G | 2 | a0002 a0003 |
7 | HG01243.hp1 HG02109.hp1 HG02451.hp1 others(4): Show |
missense_variant | MODERATE | c.592A>C | p.Ser198Arg | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 6/8 | 1167/2900 | 592/798 | 198/265 | chr7 | 73078680 | |||
| chr7:73079580 | TGTCTCAA others(11451): Show |
T | 1 | a0003 | 1 | HG02723.hp2 | exon_loss_variant | HIGH | c.-5575_495-804del | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/8 | chr7 | 73079580 | |||||||
| chr7:73080534 | C | T | 1 | a0001 | 2 | NA18943.hp2 NA19081.hp2 |
missense_variant | MODERATE | c.443G>A | p.Arg148Gln | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/8 | 1018/2900 | 443/798 | 148/265 | chr7 | 73080534 | |||
| chr7:73082941 | C | T | 1 | a0001 | 1 | HG02723.hp1 | missense_variant | MODERATE | c.296G>A | p.Arg99Gln | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/8 | 871/2900 | 296/798 | 99/265 | chr7 | 73082941 | |||
| chr7:73083079 | C | T | 1 | a0001 | 1 | HG03579.hp2 | missense_variant | MODERATE | c.158G>A | p.Arg53His | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/8 | 733/2900 | 158/798 | 53/265 | chr7 | 73083079 | |||
| chr7:73084168 | C | T | 1 | a0001 | 70 | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(67): Show |
missense_variant | MODERATE | c.71G>A | p.Arg24Gln | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/8 | 646/2900 | 71/798 | 24/265 | chr7 | 73084168 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:73080521 | G | C | 1 | a0001c0001 | 1 | NA20129.hp2 | synonymous_variant | LOW | c.456C>G | p.Pro152Pro | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/8 | 1031/2900 | 456/798 | 152/265 | chr7 | 73080521 | |||
| chr7:73082958 | C | T | 1 | a0001c0001 | 2 | HG00423.hp1 NA19079.hp2 |
synonymous_variant | LOW | c.279G>A | p.Lys93Lys | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/8 | 854/2900 | 279/798 | 93/265 | chr7 | 73082958 | |||
| chr7:73083051 | C | T | 1 | a0001c0001 | 1 | HG03579.hp2 | synonymous_variant | LOW | c.186G>A | p.Arg62Arg | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/8 | 761/2900 | 186/798 | 62/265 | chr7 | 73083051 | |||
| chr7:73084191 | G | C | 1 | a0001c0001 | 11 | HG00408.hp1 HG00609.hp2 HG02056.hp1 others(8): Show |
synonymous_variant | LOW | c.48C>G | p.Pro16Pro | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/8 | 623/2900 | 48/798 | 16/265 | chr7 | 73084191 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:73076002 | A | G | 3 | a0001c0001t0008 a0002c0002t0005 a0003c0003t0011 |
8 | HG01243.hp1 HG01891.hp1 HG02109.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1497T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 8/8 | 2350 | chr7 | 73076002 | ||||||
| chr7:73076091 | A | T | 1 | a0001c0001t0010 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1408T>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 8/8 | 2261 | chr7 | 73076091 | ||||||
| chr7:73076590 | G | A | 1 | a0001c0001t0009 | 1 | HG02280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*909C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 8/8 | 1762 | chr7 | 73076590 | ||||||
| chr7:73076633 | A | G | 2 | a0002c0002t0005 a0003c0003t0011 |
7 | HG01243.hp1 HG02109.hp1 HG02451.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*866T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 8/8 | 1719 | chr7 | 73076633 | ||||||
| chr7:73076807 | A | T | 8 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show |
99 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(96): Show |
3_prime_UTR_variant | MODIFIER | c.*692T>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 8/8 | 1545 | chr7 | 73076807 | ||||||
| chr7:73077125 | A | G | 4 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show |
83 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(80): Show |
3_prime_UTR_variant | MODIFIER | c.*374T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 8/8 | 1227 | chr7 | 73077125 | ||||||
| chr7:73077174 | T | C | 1 | a0001c0001t0007 | 1 | HG02129.hp2 | 3_prime_UTR_variant | MODIFIER | c.*325A>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 8/8 | 1178 | chr7 | 73077174 | ||||||
| chr7:73077364 | A | C | 2 | a0001c0001t0002 a0001c0001t0007 |
50 | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(47): Show |
3_prime_UTR_variant | MODIFIER | c.*135T>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 8/8 | 988 | chr7 | 73077364 | ||||||
| chr7:73084303 | G | C | 1 | a0001c0001t0002 | 2 | HG00423.hp1 NA19079.hp2 |
5_prime_UTR_variant | MODIFIER | c.-65C>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/8 | 65 | chr7 | 73084303 | ||||||
| chr7:73084391 | C | T | 1 | a0001c0001t0001 | 1 | HG06807.hp1 | 5_prime_UTR_variant | MODIFIER | c.-153G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/8 | 153 | chr7 | 73084391 | ||||||
| chr7:73084401 | C | T | 1 | a0001c0001t0003 | 1 | HG03579.hp2 | 5_prime_UTR_variant | MODIFIER | c.-163G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/8 | 163 | chr7 | 73084401 | ||||||
| chr7:73084636 | G | A | 2 | a0001c0001t0009 a0002c0002t0005 |
2 | HG02280.hp2 NA21309.hp2 |
5_prime_UTR_variant | MODIFIER | c.-398C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/8 | 398 | chr7 | 73084636 | ||||||
| chr7:73084645 | G | A | 2 | a0001c0001t0002 a0001c0001t0003 |
14 | HG00741.hp1 HG01069.hp1 HG01516.hp1 others(11): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-407C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/8 | chr7 | 73084645 | |||||||
| chr7:73085976 | C | A | 1 | a0001c0001t0001 | 20 | HG00558.hp1 HG00609.hp1 HG01516.hp2 others(17): Show |
5_prime_UTR_variant | MODIFIER | c.-513G>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/8 | 1738 | chr7 | 73085976 | ||||||
| chr7:73085991 | C | G | 2 | a0001c0001t0004 a0001c0001t0008 |
3 | HG01109.hp2 HG01891.hp1 HG02723.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-528G>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/8 | chr7 | 73085991 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:73077491 | C | T | 1 | a0001c0001t0002g0017 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.*46-38G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73077491 | |||||||
| chr7:73077519 | G | A | 5 | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0025 others(2): Show |
9 | HG01169.hp1 HG01243.hp2 HG01993.hp2 others(6): Show |
intron_variant | MODIFIER | c.*46-66C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73077519 | |||||||
| chr7:73077537 | C | G | 3 | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0004g0011 |
6 | HG01243.hp2 HG01993.hp2 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.*46-84G>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73077537 | |||||||
| chr7:73077589 | A | G | 1 | a0001c0001t0003g0008 | 3 | HG00741.hp2 HG01169.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.*46-136T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73077589 | |||||||
| chr7:73077610 | G | A | 1 | a0001c0001t0002g0020 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.*46-157C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73077610 | |||||||
| chr7:73077751 | T | G | 1 | a0001c0001t0003g0028 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.*46-298A>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73077751 | |||||||
| chr7:73077833 | A | G | 10 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0017 others(7): Show |
74 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(71): Show |
intron_variant | MODIFIER | c.*46-380T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73077833 | |||||||
| chr7:73077886 | C | T | 1 | a0001c0001t0003g0030 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.*45+421G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73077886 | |||||||
| chr7:73077989 | A | G | 1 | a0001c0001t0001g0016 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.*45+318T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73077989 | |||||||
| chr7:73078120 | C | T | 1 | a0001c0001t0001g0015 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.*45+187G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 7/7 | chr7 | 73078120 | |||||||
| chr7:73078512 | C | T | 1 | a0001c0001t0009g0014 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.738+22G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 6/7 | chr7 | 73078512 | |||||||
| chr7:73078954 | G | A | 2 | a0001c0001t0001g0026 a0001c0001t0001g0029 |
2 | HG02895.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.495-177C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73078954 | |||||||
| chr7:73079107 | G | A | 1 | a0001c0001t0002g0031 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.495-330C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73079107 | |||||||
| chr7:73079277 | G | A | 1 | a0001c0001t0002g0027 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.495-500C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73079277 | |||||||
| chr7:73079362 | A | G | 1 | a0002c0002t0005g0010 | 2 | HG02109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.495-585T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73079362 | |||||||
| chr7:73079414 | G | GATAA | 4 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0029 others(1): Show |
7 | HG00423.hp2 HG01993.hp2 HG03579.hp2 others(4): Show |
intron_variant | MODIFIER | c.495-641_495-638dup others(4): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73079414 | |||||||
| chr7:73079471 | G | A | 4 | a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0003g0003 others(1): Show |
53 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(50): Show |
intron_variant | MODIFIER | c.495-694C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73079471 | |||||||
| chr7:73079585 | C | CA | 6 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0004 others(3): Show |
11 | HG00423.hp2 HG01891.hp2 HG02083.hp2 others(8): Show |
intron_variant | MODIFIER | c.495-809dupT | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73079585 | |||||||
| chr7:73079624 | G | T | 1 | a0001c0001t0001g0013 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.495-847C>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73079624 | |||||||
| chr7:73079632 | C | T | 1 | a0001c0001t0001g0001 | 9 | HG00558.hp1 HG01516.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.494+851G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73079632 | |||||||
| chr7:73079819 | A | G | 1 | a0001c0001t0006g0006 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.494+664T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73079819 | |||||||
| chr7:73080069 | A | T | 1 | a0001c0001t0003g0028 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.494+414T>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73080069 | |||||||
| chr7:73080113 | G | A | 1 | a0001c0001t0001g0025 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.494+370C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73080113 | |||||||
| chr7:73080325 | C | CT | 8 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(5): Show |
46 | HG00423.hp2 HG00609.hp1 HG00741.hp2 others(43): Show |
intron_variant | MODIFIER | c.494+157dupA | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73080325 | |||||||
| chr7:73080325 | C | CTT | 4 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0029 others(1): Show |
7 | HG02071.hp2 HG02280.hp1 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.494+156_494+157dup others(2): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73080325 | |||||||
| chr7:73080325 | CT | C | 13 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(10): Show |
52 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(49): Show |
intron_variant | MODIFIER | c.494+157delA | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73080325 | |||||||
| chr7:73080325 | CTT | C | 6 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(3): Show |
34 | HG00423.hp1 HG00558.hp2 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.494+156_494+157del others(2): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73080325 | |||||||
| chr7:73080357 | T | G | 2 | a0001c0001t0001g0001 a0001c0001t0001g0013 |
8 | HG02071.hp2 HG03491.hp1 HG04204.hp2 others(5): Show |
intron_variant | MODIFIER | c.494+126A>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73080357 | |||||||
| chr7:73080443 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.494+40C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73080443 | |||||||
| chr7:73080457 | C | T | 2 | a0001c0001t0001g0001 a0001c0001t0006g0006 |
2 | HG02083.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.494+26G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/7 | chr7 | 73080457 | |||||||
| chr7:73080602 | G | T | 2 | a0001c0001t0002g0004 a0001c0001t0002g0020 |
11 | HG01516.hp1 HG02083.hp1 NA18951.hp2 others(8): Show |
intron_variant | MODIFIER | c.409-34C>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73080602 | |||||||
| chr7:73080740 | G | A | 1 | a0001c0001t0006g0006 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.409-172C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73080740 | |||||||
| chr7:73080760 | G | A | 1 | a0001c0001t0006g0006 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.409-192C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73080760 | |||||||
| chr7:73080890 | A | G | 1 | a0001c0001t0001g0013 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.409-322T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73080890 | |||||||
| chr7:73080891 | G | A | 1 | a0001c0001t0001g0013 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.409-323C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73080891 | |||||||
| chr7:73080936 | C | T | 1 | a0001c0001t0004g0005 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.409-368G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73080936 | |||||||
| chr7:73081185 | T | C | 1 | a0001c0001t0003g0003 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.408+611A>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73081185 | |||||||
| chr7:73081325 | G | GA | 4 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0020 others(1): Show |
15 | HG01081.hp1 HG01516.hp1 HG02056.hp1 others(12): Show |
intron_variant | MODIFIER | c.408+470dupT | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73081325 | |||||||
| chr7:73081399 | C | G | 1 | a0001c0001t0002g0002 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.408+397G>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73081399 | |||||||
| chr7:73081421 | G | A | 6 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0025 others(3): Show |
8 | HG00423.hp2 HG01993.hp2 HG03516.hp1 others(5): Show |
intron_variant | MODIFIER | c.408+375C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73081421 | |||||||
| chr7:73081421 | G | T | 1 | a0001c0001t0006g0006 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.408+375C>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73081421 | |||||||
| chr7:73081437 | G | T | 1 | a0002c0002t0005g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.408+359C>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73081437 | |||||||
| chr7:73081511 | G | A | 1 | a0001c0001t0002g0002 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.408+285C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73081511 | |||||||
| chr7:73081712 | C | G | 1 | a0001c0001t0009g0014 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.408+84G>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73081712 | |||||||
| chr7:73081737 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.408+59G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 4/7 | chr7 | 73081737 | |||||||
| chr7:73081898 | T | G | 2 | a0001c0001t0002g0004 a0001c0001t0002g0020 |
11 | HG02083.hp1 NA18951.hp2 NA18955.hp1 others(8): Show |
intron_variant | MODIFIER | c.350-44A>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73081898 | |||||||
| chr7:73081941 | G | A | 1 | a0001c0001t0001g0025 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.350-87C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73081941 | |||||||
| chr7:73081968 | G | A | 1 | a0001c0001t0001g0009 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.350-114C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73081968 | |||||||
| chr7:73082026 | T | G | 1 | a0001c0001t0006g0006 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.350-172A>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73082026 | |||||||
| chr7:73082111 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.350-257G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73082111 | |||||||
| chr7:73082127 | G | A | 3 | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0030 |
6 | HG00741.hp1 HG01069.hp1 HG01175.hp1 others(3): Show |
intron_variant | MODIFIER | c.350-273C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73082127 | |||||||
| chr7:73082217 | C | T | 25 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0025 others(22): Show |
112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.350-363G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73082217 | |||||||
| chr7:73082238 | A | G | 1 | a0001c0001t0004g0005 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.350-384T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73082238 | |||||||
| chr7:73082246 | C | A | 28 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(25): Show |
108 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(105): Show |
intron_variant | MODIFIER | c.350-392G>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73082246 | |||||||
| chr7:73082347 | T | C | 1 | a0001c0001t0001g0001 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.350-493A>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73082347 | |||||||
| chr7:73082550 | C | T | 9 | a0001c0001t0001g0021 a0001c0001t0002g0002 a0001c0001t0002g0004 others(6): Show |
61 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(58): Show |
intron_variant | MODIFIER | c.349+338G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 3/7 | chr7 | 73082550 | |||||||
| chr7:73083129 | C | T | 1 | a0001c0001t0001g0001 | 14 | HG00558.hp1 HG01516.hp2 HG02004.hp2 others(11): Show |
intron_variant | MODIFIER | c.131-23G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083129 | |||||||
| chr7:73083155 | G | A | 1 | a0001c0001t0001g0001 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.131-49C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083155 | |||||||
| chr7:73083306 | G | A | 1 | a0001c0001t0004g0012 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.131-200C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083306 | |||||||
| chr7:73083353 | CT | C | 8 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0002g0002 others(5): Show |
41 | HG00609.hp1 HG00741.hp2 HG01069.hp2 others(38): Show |
intron_variant | MODIFIER | c.131-248delA | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083353 | |||||||
| chr7:73083353 | CTT | C | 22 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0025 others(19): Show |
93 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(90): Show |
intron_variant | MODIFIER | c.131-249_131-248del others(2): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083353 | |||||||
| chr7:73083353 | CTTT | C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0002g0002 others(2): Show |
6 | HG00558.hp2 HG02735.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.131-250_131-248del others(3): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083353 | |||||||
| chr7:73083378 | C | T | 1 | a0001c0001t0004g0005 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.131-272G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083378 | |||||||
| chr7:73083483 | C | G | 1 | a0001c0001t0003g0028 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.131-377G>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083483 | |||||||
| chr7:73083585 | T | C | 7 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0003g0022 others(4): Show |
17 | HG01169.hp1 HG01175.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.131-479A>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083585 | |||||||
| chr7:73083590 | G | A | 1 | a0001c0001t0004g0012 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.131-484C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083590 | |||||||
| chr7:73083718 | CCTTCTTT others(5): Show |
C | 1 | a0001c0001t0003g0028 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.130+379_130+390del others(12): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083718 | |||||||
| chr7:73083722 | CTTTTTTT others(8): Show |
C | 2 | a0001c0001t0001g0025 a0001c0001t0006g0006 |
2 | HG01891.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.130+372_130+386del others(15): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083722 | |||||||
| chr7:73083722 | CTTTTTTT others(9): Show |
C | 1 | a0001c0001t0006g0006 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.130+371_130+386del others(16): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083722 | |||||||
| chr7:73083722 | CTTTTTTT others(11): Show |
C | 4 | a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0004g0012 others(1): Show |
4 | HG03225.hp1 HG03516.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.130+369_130+386del others(18): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083722 | |||||||
| chr7:73083722 | CTTTTTTT others(12): Show |
C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0003g0022 others(2): Show |
5 | HG01243.hp2 HG02451.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.130+368_130+386del others(19): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083722 | |||||||
| chr7:73083722 | CTTTTTTT others(13): Show |
C | 1 | a0001c0001t0004g0012 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.130+367_130+386del others(20): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083722 | |||||||
| chr7:73083731 | C | CT | 2 | a0001c0001t0002g0002 a0001c0001t0003g0003 |
2 | HG01099.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.130+377dupA | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083731 | |||||||
| chr7:73083734 | C | CT | 7 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0002g0002 others(4): Show |
19 | HG00741.hp1 HG01175.hp1 HG01255.hp2 others(16): Show |
intron_variant | MODIFIER | c.130+374dupA | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | C | CTT | 9 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0002 others(6): Show |
37 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(34): Show |
intron_variant | MODIFIER | c.130+373_130+374dup others(2): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | C | CTTT | 3 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0003g0003 |
8 | HG01109.hp1 HG01255.hp1 HG02015.hp1 others(5): Show |
intron_variant | MODIFIER | c.130+372_130+374dup others(3): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | C | CTTTT | 5 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0027 others(2): Show |
11 | HG02056.hp1 HG02109.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.130+371_130+374dup others(4): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | C | T | 2 | a0001c0001t0002g0002 a0001c0001t0003g0003 |
2 | HG01099.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.130+375G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | CT | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0002g0004 |
12 | HG02004.hp2 HG02056.hp2 HG02071.hp2 others(9): Show |
intron_variant | MODIFIER | c.130+374delA | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | CTTTTTTT others(1): Show |
C | 2 | a0001c0001t0001g0001 a0001c0001t0003g0008 |
14 | HG00609.hp1 HG00741.hp2 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.130+367_130+374del others(8): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | CTTTTTTT others(3): Show |
C | 1 | a0001c0001t0003g0030 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.130+365_130+374del others(10): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | CTTTTTTT others(4): Show |
C | 1 | a0001c0001t0001g0016 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.130+364_130+374del others(11): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0001g0001 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.130+363_130+374del others(12): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | CTTTTTTT others(6): Show |
C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(1): Show |
6 | HG00423.hp2 HG01993.hp2 HG02300.hp2 others(3): Show |
intron_variant | MODIFIER | c.130+362_130+374del others(13): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | CTTTTTTT others(7): Show |
C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0006g0006 |
3 | HG01256.hp2 HG02895.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.130+361_130+374del others(14): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083734 | CTTTTTTT others(11): Show |
C | 1 | a0001c0001t0001g0001 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.130+357_130+374del others(18): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083734 | |||||||
| chr7:73083736 | T | TC | 2 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
2 | HG01069.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.130+372_130+373ins others(1): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083736 | |||||||
| chr7:73083820 | C | T | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(1): Show |
7 | HG00423.hp2 HG01256.hp2 HG01993.hp2 others(4): Show |
intron_variant | MODIFIER | c.130+289G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083820 | |||||||
| chr7:73083866 | C | T | 5 | a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0027 others(2): Show |
11 | HG00408.hp1 HG00609.hp2 HG02056.hp1 others(8): Show |
intron_variant | MODIFIER | c.130+243G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083866 | |||||||
| chr7:73083891 | A | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(1): Show |
7 | HG00423.hp2 HG01256.hp2 HG01993.hp2 others(4): Show |
intron_variant | MODIFIER | c.130+218T>C | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083891 | |||||||
| chr7:73083910 | G | A | 1 | a0001c0001t0006g0006 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.130+199C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083910 | |||||||
| chr7:73083978 | C | A | 4 | a0001c0001t0002g0002 a0001c0001t0002g0027 a0001c0001t0003g0003 others(1): Show |
10 | HG00408.hp1 HG00609.hp2 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.130+131G>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73083978 | |||||||
| chr7:73084023 | G | A | 3 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0026 |
5 | HG00423.hp2 HG01993.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.130+86C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73084023 | |||||||
| chr7:73084044 | C | T | 1 | a0001c0001t0001g0001 | 14 | HG00558.hp1 HG01516.hp2 HG02004.hp2 others(11): Show |
intron_variant | MODIFIER | c.130+65G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73084044 | |||||||
| chr7:73084045 | G | A | 1 | a0001c0001t0006g0006 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.130+64C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | 73084045 | |||||||
| chr7:73084768 | T | C | 1 | a0001c0001t0001g0001 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.-453-77A>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73084768 | |||||||
| chr7:73084896 | G | A | 1 | a0001c0001t0001g0029 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-453-205C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73084896 | |||||||
| chr7:73085034 | C | A | 2 | a0002c0002t0005g0007 a0002c0002t0005g0010 |
6 | HG01243.hp1 HG02109.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.-453-343G>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085034 | |||||||
| chr7:73085182 | T | C | 1 | a0001c0001t0009g0014 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-453-491A>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085182 | |||||||
| chr7:73085217 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.-453-526G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085217 | |||||||
| chr7:73085480 | G | A | 1 | a0001c0001t0003g0028 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-454+437C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085480 | |||||||
| chr7:73085488 | G | A | 2 | a0001c0001t0004g0005 a0001c0001t0008g0023 |
3 | HG01109.hp2 HG01891.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.-454+429C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085488 | |||||||
| chr7:73085517 | C | T | 1 | a0001c0001t0001g0001 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-454+400G>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085517 | |||||||
| chr7:73085531 | A | T | 4 | a0001c0001t0001g0001 a0001c0001t0004g0005 a0001c0001t0006g0006 others(1): Show |
6 | HG01109.hp2 HG01891.hp1 HG01934.hp2 others(3): Show |
intron_variant | MODIFIER | c.-454+386T>A | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085531 | |||||||
| chr7:73085532 | T | A | 1 | a0001c0001t0009g0014 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-454+385A>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085532 | |||||||
| chr7:73085598 | G | A | 3 | a0001c0001t0001g0009 a0001c0001t0004g0005 a0001c0001t0008g0023 |
5 | HG01109.hp2 HG01891.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.-454+319C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085598 | |||||||
| chr7:73085639 | G | A | 1 | a0001c0001t0003g0028 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-454+278C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085639 | |||||||
| chr7:73085640 | G | C | 2 | a0001c0001t0001g0001 a0001c0001t0003g0008 |
4 | HG00741.hp2 HG01099.hp2 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.-454+277C>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085640 | |||||||
| chr7:73085733 | TAGTC | T | 3 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0003g0008 |
4 | HG00741.hp2 HG01099.hp2 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.-454+180_-454+183d others(6): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085733 | |||||||
| chr7:73085813 | G | A | 1 | a0001c0001t0004g0005 | 2 | HG02451.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.-454+104C>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085813 | |||||||
| chr7:73085881 | CAAAA | C | 2 | a0001c0001t0001g0001 a0001c0001t0001g0026 |
20 | HG00558.hp1 HG00609.hp1 HG01516.hp2 others(17): Show |
intron_variant | MODIFIER | c.-454+32_-454+35del others(4): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085881 | |||||||
| chr7:73085891 | A | C | 11 | a0001c0001t0001g0021 a0001c0001t0002g0002 a0001c0001t0002g0004 others(8): Show |
75 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(72): Show |
intron_variant | MODIFIER | c.-454+26T>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085891 | |||||||
| chr7:73085894 | A | C | 24 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0025 others(21): Show |
98 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.-454+23T>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085894 | |||||||
| chr7:73085895 | A | C | 1 | a0001c0001t0006g0006 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-454+22T>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085895 | |||||||
| chr7:73085896 | AAC | A | 12 | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0029 others(9): Show |
18 | HG01169.hp1 HG01169.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.-454+19_-454+20del others(2): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085896 | |||||||
| chr7:73085897 | A | C | 2 | a0001c0001t0001g0001 a0001c0001t0003g0003 |
2 | HG02004.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.-454+20T>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085897 | |||||||
| chr7:73085897 | AC | A | 6 | a0001c0001t0001g0001 a0001c0001t0003g0008 a0001c0001t0004g0005 others(3): Show |
8 | HG00741.hp2 HG01099.hp2 HG01109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-454+19delG | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085897 | |||||||
| chr7:73085898 | C | A | 12 | a0001c0001t0001g0021 a0001c0001t0002g0002 a0001c0001t0002g0004 others(9): Show |
76 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(73): Show |
intron_variant | MODIFIER | c.-454+19G>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085898 | |||||||
| chr7:73085902 | A | C | 1 | a0001c0001t0006g0006 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-454+15T>G | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085902 | |||||||
| chr7:73085907 | C | A | 3 | a0001c0001t0001g0001 a0001c0001t0003g0008 a0001c0001t0006g0006 |
5 | HG00741.hp2 HG01099.hp2 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.-454+10G>T | SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 1/7 | chr7 | 73085907 |