Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 257169 |
| ensemblid | ENSG00000157653.12 |
| hgncid | 23570 |
| symbol | C9orf43 |
| name | chromosome 9 open reading frame 43 |
| refseq_nuc | NM_001278629.2 |
| refseq_prot | NP_001265558.1 |
| ensembl_nuc | ENST00000374165.6 |
| ensembl_prot | ENSP00000363280.1 |
| mane_status | MANE Select |
| chr | chr9 |
| start | 113410747 |
| end | 113429690 |
| strand | + |
| ver | v1.2 |
| region | chr9:113410747-113429690 |
| region5000 | chr9:113405747-113434690 |
| regionname0 | C9orf43_chr9_113410747_113429690 |
| regionname5000 | C9orf43_chr9_113405747_113434690 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 461 | 267 | 78 | 46 | 102 | 12 | 27 | 76 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0002 | 0/0 | 461 | 18 | 4 | 9 | 0 | 3 | 2 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0003 | 0/0 | 462 | 8 | 0 | 1 | 3 | 1 | 3 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(457): Show |
chr9 | 113405747 | 113434690 |
| a0004 | 0/0 | 461 | 6 | 6 | 0 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0005 | 0/0 | 461 | 3 | 0 | 1 | 0 | 0 | 2 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0006 | 0/0 | 461 | 2 | 0 | 1 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0007 | 0/0 | 461 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0008 | 0/0 | 461 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0009 | 0/0 | 461 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0010 | 0/0 | 461 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0011 | 0/0 | 461 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| a0012 | 0/0 | 461 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | MDLPD others(456): Show |
chr9 | 113405747 | 113434690 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1383 | 266 | 78 | 46 | 102 | 12 | 26 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0001c0014 | 0/0 | 1383 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0002c0002 | 0/0 | 1383 | 18 | 4 | 9 | 0 | 3 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0003c0003 | 0/0 | 1386 | 7 | 0 | 1 | 3 | 1 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1381): Show |
chr9 | 113405747 | 113434690 | ||
| a0003c0011 | 0/0 | 1386 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1381): Show |
chr9 | 113405747 | 113434690 | ||
| a0004c0004 | 0/0 | 1383 | 6 | 6 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0005c0005 | 0/0 | 1383 | 3 | 0 | 1 | 0 | 0 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0006c0006 | 0/0 | 1383 | 2 | 0 | 1 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0007c0008 | 0/0 | 1383 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0008c0010 | 0/0 | 1383 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0009c0012 | 0/0 | 1383 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0010c0009 | 0/0 | 1383 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0011c0007 | 0/0 | 1383 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 | ||
| a0012c0013 | 0/0 | 1383 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | ATGGA others(1378): Show |
chr9 | 113405747 | 113434690 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 1994 | 256 | 74 | 45 | 98 | 12 | 25 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0001c0001t0003 | 0/0 | 1993 | 3 | 0 | 0 | 3 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1988): Show |
chr9 | 113405747 | 113434690 |
| a0001c0001t0004 | 0/0 | 1994 | 3 | 3 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0001c0001t0005 | 0/0 | 1994 | 2 | 1 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0001c0001t0006 | 0/0 | 1994 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0001c0001t0007 | 0/0 | 1994 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0001c0014t0001 | 0/0 | 1994 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0002c0002t0001 | 0/0 | 1994 | 18 | 4 | 9 | 0 | 3 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0003c0003t0002 | 0/0 | 1997 | 7 | 0 | 1 | 3 | 1 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1992): Show |
chr9 | 113405747 | 113434690 |
| a0003c0011t0002 | 0/0 | 1997 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1992): Show |
chr9 | 113405747 | 113434690 |
| a0004c0004t0001 | 0/0 | 1994 | 6 | 6 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0005c0005t0001 | 0/0 | 1994 | 3 | 0 | 1 | 0 | 0 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0006c0006t0001 | 0/0 | 1994 | 2 | 0 | 1 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0007c0008t0001 | 0/0 | 1994 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0008c0010t0001 | 0/0 | 1994 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0009c0012t0001 | 0/0 | 1994 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0010c0009t0001 | 0/0 | 1994 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0011c0007t0008 | 0/0 | 1994 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| a0012c0013t0001 | 0/0 | 1994 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | AGGAC others(1989): Show |
chr9 | 113405747 | 113434690 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 1/0 | 99 | 21 | 19 | 43 | 5 | 10 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0002 | 0/0 | 43 | 11 | 8 | 18 | 1 | 5 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0003 | 0/1 | 17 | 0 | 3 | 7 | 4 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0005 | 0/0 | 8 | 0 | 0 | 8 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0007 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0008 | 0/0 | 4 | 0 | 4 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0009 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0015 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0016 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0017 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0018 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0020 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0021 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0022 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0025 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0026 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0027 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0028 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0003g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0003g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0004g0024 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0004g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0005g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0005g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0006g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0001t0007g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0001c0014t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0002c0002t0001g0004 | 0/0 | 10 | 1 | 4 | 0 | 3 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0002c0002t0001g0011 | 0/0 | 3 | 1 | 2 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0002c0002t0001g0012 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0002c0002t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0002c0002t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0003c0003t0002g0006 | 0/0 | 6 | 0 | 1 | 3 | 1 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0003c0003t0002g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0003c0011t0002g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0004c0004t0001g0013 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0004c0004t0001g0019 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0004c0004t0001g0023 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0005c0005t0001g0001 | 0/0 | 3 | 0 | 1 | 0 | 0 | 2 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0006c0006t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0006c0006t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0007c0008t0001g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0008c0010t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0009c0012t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0010c0009t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0011c0007t0008g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| a0012c0013t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0003 | EUR | GBR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00140 | hp2 | a0002 | c0002 | t0001 | g0004 | EUR | GBR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0026 | EUR | FIN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0003 | EUR | FIN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00544 | hp2 | a0006 | c0006 | t0001 | g0001 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00639 | hp2 | a0006 | c0006 | t0001 | g0039 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0059 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0041 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00735 | hp1 | a0002 | c0002 | t0001 | g0011 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00738 | hp1 | a0002 | c0002 | t0001 | g0038 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG00741 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01099 | hp1 | a0007 | c0008 | t0001 | g0004 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01106 | hp1 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01167 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01168 | hp1 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01192 | hp1 | a0002 | c0002 | t0001 | g0011 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01243 | hp1 | a0008 | c0010 | t0001 | g0010 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0066 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0026 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01261 | hp1 | a0002 | c0002 | t0001 | g0037 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01261 | hp2 | a0002 | c0002 | t0001 | g0012 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0049 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0045 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01496 | hp1 | a0005 | c0005 | t0001 | g0001 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0003 | EUR | IBS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01516 | hp1 | a0002 | c0002 | t0001 | g0004 | EUR | IBS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | IBS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01517 | hp1 | a0002 | c0002 | t0001 | g0004 | EUR | IBS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0003 | EUR | IBS | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01884 | hp2 | a0002 | c0002 | t0001 | g0012 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0021 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0061 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02027 | hp2 | a0001 | c0001 | t0007 | g0001 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02055 | hp1 | a0001 | c0001 | t0005 | g0031 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02132 | hp1 | a0003 | c0003 | t0002 | g0006 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02145 | hp1 | a0002 | c0002 | t0001 | g0012 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0073 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02148 | hp1 | a0001 | c0001 | t0006 | g0054 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02148 | hp2 | a0003 | c0003 | t0002 | g0006 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0028 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02280 | hp2 | a0004 | c0004 | t0001 | g0019 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0072 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0079 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0044 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02615 | hp2 | a0001 | c0001 | t0004 | g0024 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02698 | hp1 | a0001 | c0001 | t0005 | g0032 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0033 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0042 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0078 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02818 | hp2 | a0009 | c0012 | t0001 | g0013 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02895 | hp2 | a0002 | c0002 | t0001 | g0011 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02896 | hp1 | a0002 | c0002 | t0001 | g0004 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0080 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0051 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02970 | hp1 | a0001 | c0001 | t0004 | g0083 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02970 | hp2 | a0004 | c0004 | t0001 | g0013 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03017 | hp1 | a0002 | c0002 | t0001 | g0004 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0035 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03041 | hp2 | a0004 | c0004 | t0001 | g0013 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03098 | hp1 | a0004 | c0004 | t0001 | g0023 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0036 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0047 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03139 | hp2 | a0004 | c0004 | t0001 | g0019 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0070 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0063 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03490 | hp1 | a0005 | c0005 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03490 | hp2 | a0003 | c0011 | t0002 | g0006 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0056 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03492 | hp2 | a0005 | c0005 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ESN | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0021 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03540 | hp2 | a0001 | c0001 | t0004 | g0024 | AFR | GWD | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0058 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0048 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0068 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0040 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03688 | hp1 | a0003 | c0003 | t0002 | g0081 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03688 | hp2 | a0003 | c0003 | t0002 | g0006 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0003 | SAS | BEB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0084 | SAS | BEB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0043 | SAS | BEB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | BEB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0055 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG04199 | hp1 | a0010 | c0009 | t0001 | g0002 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG04199 | hp2 | a0011 | c0007 | t0008 | g0003 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG04204 | hp1 | a0001 | c0014 | t0001 | g0001 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG04228 | hp1 | a0002 | c0002 | t0001 | g0004 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18522 | hp1 | a0004 | c0004 | t0001 | g0023 | AFR | YRI | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | CHB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | YRI | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | YRI | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18982 | hp1 | a0001 | c0001 | t0003 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18982 | hp2 | a0001 | c0001 | t0003 | g0014 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18983 | hp1 | a0003 | c0003 | t0002 | g0006 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18985 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18987 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18987 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19006 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0065 | AFR | LWK | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19030 | hp2 | a0012 | c0013 | t0001 | g0082 | AFR | LWK | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19067 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19081 | hp2 | a0001 | c0001 | t0003 | g0014 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19091 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | YRI | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | ASW | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ASW | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0050 | EUR | TSI | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA20805 | hp2 | a0003 | c0003 | t0002 | g0006 | EUR | TSI | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0030 | SAS | GIH | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | GIH | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0017 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0062 | AFR | ACB | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | MSL | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | USA | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | USA | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18955 | hp1 | a0003 | c0003 | t0002 | g0006 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | USA | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | USA | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0003 | REF | REF | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | C9orf43_chr9_113405747_113434690 | C9orf43 | chr9 | 113405747 | 113434690 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:113419139 | A | G | 1 | a0005 | 3 | HG01496.hp1 HG03490.hp1 HG03492.hp2 |
missense_variant | MODERATE | c.319A>G | p.Ile107Val | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/14 | 623/1994 | 319/1386 | 107/461 | chr9 | 113419139 | |||
| chr9:113419143 | A | G | 1 | a0012 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.323A>G | p.Asn108Ser | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/14 | 627/1994 | 323/1386 | 108/461 | chr9 | 113419143 | |||
| chr9:113422580 | G | A | 1 | a0011 | 1 | HG04199.hp2 | missense_variant | MODERATE | c.478G>A | p.Ala160Thr | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 6/14 | 782/1994 | 478/1386 | 160/461 | chr9 | 113422580 | |||
| chr9:113423375 | G | A | 1 | a0007 | 1 | HG01099.hp1 | missense_variant | MODERATE | c.533G>A | p.Arg178Gln | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 7/14 | 837/1994 | 533/1386 | 178/461 | chr9 | 113423375 | |||
| chr9:113424264 | A | G | 2 | a0002 a0007 |
19 | HG00140.hp2 HG00735.hp1 HG00738.hp1 others(16): Show |
missense_variant | MODERATE | c.755A>G | p.Asp252Gly | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 8/14 | 1059/1994 | 755/1386 | 252/461 | chr9 | 113424264 | |||
| chr9:113424302 | C | T | 1 | a0009 | 1 | HG02818.hp2 | missense_variant | MODERATE | c.793C>T | p.Arg265Cys | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 8/14 | 1097/1994 | 793/1386 | 265/461 | chr9 | 113424302 | |||
| chr9:113425022 | C | G | 1 | a0003 | 8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
missense_variant | MODERATE | c.811C>G | p.Pro271Ala | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 9/14 | 1115/1994 | 811/1386 | 271/461 | chr9 | 113425022 | |||
| chr9:113425365 | G | GGCA | 1 | a0003 | 8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
disruptive_inframe_insertion | MODERATE | c.906_908dupGCA | p.Gln303dup | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 10/14 | 1213/1994 | 909/1386 | 303/461 | INFO_REALIGN_3_PRIME | chr9 | 113425365 | ||
| chr9:113425662 | A | G | 1 | a0008 | 1 | HG01243.hp1 | missense_variant | MODERATE | c.962A>G | p.Lys321Arg | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/14 | 1266/1994 | 962/1386 | 321/461 | chr9 | 113425662 | |||
| chr9:113428907 | C | T | 1 | a0006 | 2 | HG00544.hp2 HG00639.hp2 |
missense_variant | MODERATE | c.1115C>T | p.Thr372Met | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 13/14 | 1419/1994 | 1115/1386 | 372/461 | chr9 | 113428907 | |||
| chr9:113428925 | A | C | 1 | a0003 | 8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
missense_variant | MODERATE | c.1133A>C | p.Asn378Thr | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 13/14 | 1437/1994 | 1133/1386 | 378/461 | chr9 | 113428925 | |||
| chr9:113428933 | G | A | 1 | a0010 | 1 | HG04199.hp1 | missense_variant | MODERATE | c.1141G>A | p.Asp381Asn | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 13/14 | 1445/1994 | 1141/1386 | 381/461 | chr9 | 113428933 | |||
| chr9:113429228 | G | A | 2 | a0004 a0009 |
7 | HG02280.hp2 HG02818.hp2 HG02970.hp2 others(4): Show |
missense_variant | MODERATE | c.1228G>A | p.Ala410Thr | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 14/14 | 1532/1994 | 1228/1386 | 410/461 | chr9 | 113429228 | |||
| chr9:113429349 | A | T | 1 | a0003 | 1 | HG03490.hp2 | missense_variant | MODERATE | c.1349A>T | p.Asp450Val | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 14/14 | 1653/1994 | 1349/1386 | 450/461 | chr9 | 113429349 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:113413799 | C | T | 1 | a0001c0014 | 1 | HG04204.hp1 | synonymous_variant | LOW | c.192C>T | p.Ser64Ser | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/14 | 496/1994 | 192/1386 | 64/461 | chr9 | 113413799 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:113410858 | C | G | 1 | a0011c0007t0008 | 1 | HG04199.hp2 | 5_prime_UTR_variant | MODIFIER | c.-193C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/14 | 2636 | chr9 | 113410858 | ||||||
| chr9:113410901 | T | A | 2 | a0003c0003t0002 a0003c0011t0002 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-150T>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/14 | 2593 | chr9 | 113410901 | ||||||
| chr9:113410926 | G | A | 2 | a0003c0003t0002 a0003c0011t0002 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-125G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/14 | 2568 | chr9 | 113410926 | ||||||
| chr9:113413491 | G | C | 1 | a0001c0001t0006 | 1 | HG02148.hp1 | 5_prime_UTR_variant | MODIFIER | c.-3G>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 2/14 | 3 | chr9 | 113413491 | ||||||
| chr9:113429387 | G | C | 1 | a0001c0001t0005 | 2 | HG02055.hp1 HG02698.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1G>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 14/14 | 1 | chr9 | 113429387 | ||||||
| chr9:113429531 | G | A | 1 | a0001c0001t0007 | 1 | HG02027.hp2 | 3_prime_UTR_variant | MODIFIER | c.*145G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 14/14 | 145 | chr9 | 113429531 | ||||||
| chr9:113429547 | G | T | 1 | a0001c0001t0004 | 3 | HG02615.hp2 HG02970.hp1 HG03540.hp2 |
3_prime_UTR_variant | MODIFIER | c.*161G>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 14/14 | 161 | chr9 | 113429547 | ||||||
| chr9:113429553 | A | G | 2 | a0003c0003t0002 a0003c0011t0002 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*167A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 14/14 | 167 | chr9 | 113429553 | ||||||
| chr9:113429603 | TC | T | 1 | a0001c0001t0003 | 3 | NA18982.hp1 NA18982.hp2 NA19081.hp2 |
3_prime_UTR_variant | MODIFIER | c.*221delC | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 14/14 | 221 | INFO_REALIGN_3_PRIME | chr9 | 113429603 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:113411097 | A | G | 1 | a0001c0001t0001g0085 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-50+96A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113411097 | |||||||
| chr9:113411302 | C | CT | 6 | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0084 others(3): Show |
23 | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(20): Show |
intron_variant | MODIFIER | c.-50+316dupT | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | 113411302 | ||||||
| chr9:113411339 | C | T | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.-50+338C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113411339 | |||||||
| chr9:113411429 | G | C | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.-50+428G>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113411429 | |||||||
| chr9:113411455 | C | A | 1 | a0001c0001t0001g0029 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-50+454C>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113411455 | |||||||
| chr9:113411495 | T | C | 1 | a0001c0001t0001g0030 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-50+494T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113411495 | |||||||
| chr9:113411703 | G | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.-50+702G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113411703 | |||||||
| chr9:113411734 | A | C | 2 | a0001c0001t0001g0080 a0001c0001t0001g0085 |
2 | HG02922.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.-50+733A>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113411734 | |||||||
| chr9:113411858 | C | T | 1 | a0001c0001t0001g0028 | 2 | HG01433.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.-50+857C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113411858 | |||||||
| chr9:113411976 | C | G | 4 | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0078 others(1): Show |
10 | HG02109.hp1 HG02572.hp2 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.-50+975C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113411976 | |||||||
| chr9:113412130 | A | G | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.-50+1129A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412130 | |||||||
| chr9:113412171 | A | G | 1 | a0001c0001t0001g0077 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-50+1170A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412171 | |||||||
| chr9:113412243 | G | A | 2 | a0001c0001t0005g0031 a0001c0001t0005g0032 |
2 | HG02055.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.-49-1202G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412243 | |||||||
| chr9:113412333 | G | A | 2 | a0001c0001t0001g0009 a0001c0001t0001g0033 |
4 | HG02055.hp2 HG02717.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-49-1112G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412333 | |||||||
| chr9:113412578 | G | C | 1 | a0004c0004t0001g0019 | 2 | HG02280.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-49-867G>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412578 | |||||||
| chr9:113412618 | C | T | 1 | a0001c0001t0001g0076 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.-49-827C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412618 | |||||||
| chr9:113412699 | A | G | 1 | a0001c0001t0001g0077 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-49-746A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412699 | |||||||
| chr9:113412797 | C | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.-49-648C>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412797 | |||||||
| chr9:113412829 | A | G | 1 | a0001c0001t0001g0079 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-49-616A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412829 | |||||||
| chr9:113412967 | T | G | 1 | a0004c0004t0001g0019 | 2 | HG02280.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-49-478T>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113412967 | |||||||
| chr9:113413000 | G | A | 1 | a0001c0001t0001g0034 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-49-445G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113413000 | |||||||
| chr9:113413042 | C | A | 1 | a0001c0001t0001g0020 | 2 | NA18949.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.-49-403C>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113413042 | |||||||
| chr9:113413055 | C | T | 3 | a0001c0001t0001g0075 a0001c0001t0005g0031 a0001c0001t0005g0032 |
3 | HG02055.hp1 HG02698.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.-49-390C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113413055 | |||||||
| chr9:113413283 | C | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.-49-162C>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1/13 | chr9 | 113413283 | |||||||
| chr9:113414100 | G | A | 4 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0035 others(1): Show |
7 | HG01243.hp1 HG02572.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.287+206G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113414100 | |||||||
| chr9:113414104 | G | A | 1 | a0001c0001t0001g0036 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.287+210G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113414104 | |||||||
| chr9:113414353 | C | T | 1 | a0001c0001t0001g0027 | 2 | NA18983.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.287+459C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113414353 | |||||||
| chr9:113414377 | C | T | 1 | a0001c0001t0001g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.287+483C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113414377 | |||||||
| chr9:113414412 | C | T | 1 | a0001c0001t0001g0074 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.287+518C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113414412 | |||||||
| chr9:113414432 | G | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.287+538G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113414432 | |||||||
| chr9:113414498 | C | T | 2 | a0001c0001t0001g0080 a0001c0001t0001g0085 |
2 | HG02922.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.287+604C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113414498 | |||||||
| chr9:113414767 | C | CA | 25 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 others(22): Show |
51 | HG00140.hp2 HG00735.hp1 HG00738.hp1 others(48): Show |
intron_variant | MODIFIER | c.287+873_287+874ins others(1): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113414767 | |||||||
| chr9:113414976 | C | A | 1 | a0006c0006t0001g0039 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.287+1082C>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113414976 | |||||||
| chr9:113415224 | A | G | 1 | a0004c0004t0001g0023 | 2 | HG03098.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.287+1330A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113415224 | |||||||
| chr9:113415251 | C | G | 1 | a0001c0001t0001g0073 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.287+1357C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113415251 | |||||||
| chr9:113415305 | G | A | 4 | a0002c0002t0001g0004 a0002c0002t0001g0037 a0002c0002t0001g0038 others(1): Show |
13 | HG00140.hp2 HG00738.hp1 HG00741.hp2 others(10): Show |
intron_variant | MODIFIER | c.287+1411G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113415305 | |||||||
| chr9:113415327 | A | G | 1 | a0004c0004t0001g0019 | 2 | HG02280.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.287+1433A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113415327 | |||||||
| chr9:113415426 | T | C | 1 | a0001c0001t0001g0040 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.287+1532T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113415426 | |||||||
| chr9:113415651 | C | G | 8 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0035 others(5): Show |
13 | HG01243.hp1 HG02572.hp1 HG02818.hp2 others(10): Show |
intron_variant | MODIFIER | c.287+1757C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113415651 | |||||||
| chr9:113416157 | G | A | 1 | a0001c0001t0001g0077 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.287+2263G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113416157 | |||||||
| chr9:113416188 | T | C | 2 | a0001c0001t0001g0008 a0001c0001t0001g0041 |
5 | HG00733.hp2 HG01099.hp2 HG01256.hp2 others(2): Show |
intron_variant | MODIFIER | c.287+2294T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113416188 | |||||||
| chr9:113416822 | C | T | 3 | a0004c0004t0001g0013 a0004c0004t0001g0023 a0009c0012t0001g0013 |
5 | HG02818.hp2 HG02970.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.288-2286C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113416822 | |||||||
| chr9:113417085 | G | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.288-2023G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113417085 | |||||||
| chr9:113417085 | G | C | 1 | a0001c0001t0001g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.288-2023G>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113417085 | |||||||
| chr9:113417376 | A | G | 1 | a0001c0001t0001g0072 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.288-1732A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113417376 | |||||||
| chr9:113417416 | A | G | 1 | a0001c0001t0001g0071 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.288-1692A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113417416 | |||||||
| chr9:113417678 | G | T | 1 | a0001c0001t0001g0070 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.288-1430G>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113417678 | |||||||
| chr9:113417737 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.288-1371G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113417737 | |||||||
| chr9:113417739 | A | G | 1 | a0001c0001t0001g0069 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.288-1369A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113417739 | |||||||
| chr9:113418282 | G | T | 1 | a0004c0004t0001g0019 | 2 | HG02280.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.288-826G>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113418282 | |||||||
| chr9:113418293 | A | G | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.288-815A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | chr9 | 113418293 | |||||||
| chr9:113418807 | CTTAATA | C | 3 | a0001c0001t0001g0010 a0001c0001t0001g0035 a0008c0010t0001g0010 |
4 | HG01243.hp1 HG02572.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.288-296_288-291del others(6): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr9 | 113418807 | ||||||
| chr9:113419232 | G | A | 1 | a0001c0001t0001g0044 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.345+67G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419232 | |||||||
| chr9:113419388 | A | G | 1 | a0001c0001t0001g0022 | 2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.345+223A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419388 | |||||||
| chr9:113419398 | C | T | 1 | a0001c0001t0001g0068 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.345+233C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419398 | |||||||
| chr9:113419455 | A | G | 1 | a0001c0001t0001g0067 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.345+290A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419455 | |||||||
| chr9:113419463 | G | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.345+298G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419463 | |||||||
| chr9:113419619 | G | GAGTTATA | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.345+454_345+455ins others(7): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419619 | |||||||
| chr9:113419620 | C | T | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.345+455C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419620 | |||||||
| chr9:113419704 | T | G | 1 | a0001c0001t0001g0040 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.345+539T>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419704 | |||||||
| chr9:113419724 | A | G | 3 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0006c0006t0001g0039 |
3 | HG00639.hp2 HG01256.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.345+559A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419724 | |||||||
| chr9:113419765 | G | A | 2 | a0001c0001t0001g0040 a0001c0001t0001g0045 |
2 | HG01433.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.345+600G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419765 | |||||||
| chr9:113419806 | T | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.345+641T>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419806 | |||||||
| chr9:113419831 | A | T | 1 | a0001c0001t0001g0036 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.345+666A>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419831 | |||||||
| chr9:113419883 | A | T | 1 | a0004c0004t0001g0019 | 2 | HG02280.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.345+718A>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419883 | |||||||
| chr9:113419891 | T | C | 1 | a0001c0001t0001g0046 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.345+726T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113419891 | |||||||
| chr9:113420004 | A | C | 1 | a0001c0001t0001g0066 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.345+839A>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420004 | |||||||
| chr9:113420215 | C | T | 1 | a0001c0001t0001g0064 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.346-888C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420215 | |||||||
| chr9:113420253 | T | C | 2 | a0001c0001t0001g0014 a0001c0001t0003g0014 |
3 | NA18612.hp1 NA18982.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.346-850T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420253 | |||||||
| chr9:113420484 | A | G | 1 | a0001c0001t0001g0063 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.346-619A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420484 | |||||||
| chr9:113420499 | A | G | 3 | a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0001g0071 |
10 | NA18946.hp2 NA18965.hp1 NA18979.hp1 others(7): Show |
intron_variant | MODIFIER | c.346-604A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420499 | |||||||
| chr9:113420529 | T | A | 1 | a0001c0001t0001g0036 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.346-574T>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420529 | |||||||
| chr9:113420603 | A | AG | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.346-500_346-499ins others(1): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420603 | |||||||
| chr9:113420619 | A | C | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.346-484A>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420619 | |||||||
| chr9:113420774 | G | A | 1 | a0001c0001t0001g0047 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.346-329G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420774 | |||||||
| chr9:113420966 | A | G | 1 | a0001c0001t0001g0040 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.346-137A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113420966 | |||||||
| chr9:113421021 | G | A | 31 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(28): Show |
109 | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(106): Show |
intron_variant | MODIFIER | c.346-82G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | 113421021 | |||||||
| chr9:113421229 | G | C | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.446+26G>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421229 | |||||||
| chr9:113421262 | G | T | 1 | a0001c0001t0005g0032 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.446+59G>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421262 | |||||||
| chr9:113421286 | A | C | 1 | a0001c0001t0001g0062 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.446+83A>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421286 | |||||||
| chr9:113421467 | T | C | 1 | a0012c0013t0001g0082 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.446+264T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421467 | |||||||
| chr9:113421486 | A | G | 1 | a0001c0001t0001g0021 | 2 | HG01978.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.446+283A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421486 | |||||||
| chr9:113421622 | A | G | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.446+419A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421622 | |||||||
| chr9:113421773 | T | C | 1 | a0001c0001t0006g0054 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.446+570T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421773 | |||||||
| chr9:113421782 | T | A | 2 | a0001c0001t0001g0055 a0001c0001t0001g0056 |
2 | HG03492.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.446+579T>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421782 | |||||||
| chr9:113421908 | A | C | 1 | a0001c0001t0001g0056 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.447-641A>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421908 | |||||||
| chr9:113421988 | G | A | 1 | a0001c0001t0001g0057 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.447-561G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113421988 | |||||||
| chr9:113422027 | C | T | 7 | a0001c0001t0001g0080 a0002c0002t0001g0004 a0002c0002t0001g0011 others(4): Show |
20 | HG00140.hp2 HG00735.hp1 HG00738.hp1 others(17): Show |
intron_variant | MODIFIER | c.447-522C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113422027 | |||||||
| chr9:113422082 | G | A | 1 | a0001c0001t0004g0024 | 2 | HG02615.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.447-467G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113422082 | |||||||
| chr9:113422163 | A | C | 1 | a0001c0001t0001g0084 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.447-386A>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | chr9 | 113422163 | |||||||
| chr9:113422515 | ATGTTTTG others(3): Show |
A | 1 | a0001c0001t0001g0080 | 1 | HG02922.hp2 | splice_region_variant&intron_variant | LOW | c.447-17_447-8delGTT others(7): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr9 | 113422515 | ||||||
| chr9:113422606 | C | A | 1 | a0001c0001t0001g0036 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.483+21C>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 6/13 | chr9 | 113422606 | |||||||
| chr9:113422714 | CT | C | 3 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0008c0010t0001g0010 |
6 | HG01243.hp1 HG02572.hp1 HG03516.hp2 others(3): Show |
intron_variant | MODIFIER | c.483+131delT | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | 113422714 | ||||||
| chr9:113422837 | G | T | 2 | a0003c0003t0002g0006 a0003c0011t0002g0006 |
7 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(4): Show |
intron_variant | MODIFIER | c.483+252G>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 6/13 | chr9 | 113422837 | |||||||
| chr9:113423098 | G | A | 1 | a0001c0001t0001g0017 | 3 | HG02109.hp1 HG02723.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.484-228G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 6/13 | chr9 | 113423098 | |||||||
| chr9:113423141 | A | G | 2 | a0001c0001t0001g0066 a0006c0006t0001g0039 |
2 | HG00639.hp2 HG01256.hp1 |
intron_variant | MODIFIER | c.484-185A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 6/13 | chr9 | 113423141 | |||||||
| chr9:113423202 | G | A | 3 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0006c0006t0001g0039 |
3 | HG00639.hp2 HG01256.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.484-124G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 6/13 | chr9 | 113423202 | |||||||
| chr9:113423289 | A | G | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.484-37A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 6/13 | chr9 | 113423289 | |||||||
| chr9:113423310 | A | G | 1 | a0001c0001t0001g0061 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.484-16A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 6/13 | chr9 | 113423310 | |||||||
| chr9:113423742 | C | G | 1 | a0001c0001t0001g0025 | 2 | HG02027.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.656+244C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 7/13 | chr9 | 113423742 | |||||||
| chr9:113423908 | C | G | 1 | a0001c0001t0001g0053 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.657-258C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 7/13 | chr9 | 113423908 | |||||||
| chr9:113424035 | A | G | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.657-131A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 7/13 | chr9 | 113424035 | |||||||
| chr9:113424087 | C | G | 1 | a0001c0001t0001g0041 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.657-79C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 7/13 | chr9 | 113424087 | |||||||
| chr9:113424111 | A | T | 1 | a0001c0001t0001g0052 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.657-55A>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 7/13 | chr9 | 113424111 | |||||||
| chr9:113424520 | C | CT | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.807+220dupT | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr9 | 113424520 | ||||||
| chr9:113424817 | T | C | 1 | a0001c0001t0001g0015 | 3 | HG01891.hp2 HG02622.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.808-202T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 8/13 | chr9 | 113424817 | |||||||
| chr9:113424937 | G | A | 1 | a0001c0001t0001g0036 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.808-82G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 8/13 | chr9 | 113424937 | |||||||
| chr9:113425139 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.865+63C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 9/13 | chr9 | 113425139 | |||||||
| chr9:113425530 | A | T | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.942+110A>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 10/13 | chr9 | 113425530 | |||||||
| chr9:113425822 | T | A | 1 | a0001c0001t0001g0077 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1030+92T>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113425822 | |||||||
| chr9:113425960 | G | T | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.1030+230G>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113425960 | |||||||
| chr9:113425992 | T | C | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.1030+262T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113425992 | |||||||
| chr9:113426125 | C | G | 1 | a0001c0001t0001g0060 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1030+395C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113426125 | |||||||
| chr9:113426194 | T | C | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.1030+464T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113426194 | |||||||
| chr9:113426298 | A | G | 17 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 others(14): Show |
37 | HG00140.hp2 HG00735.hp1 HG00738.hp1 others(34): Show |
intron_variant | MODIFIER | c.1030+568A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113426298 | |||||||
| chr9:113426445 | G | T | 22 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 others(19): Show |
47 | HG00140.hp2 HG00735.hp1 HG00738.hp1 others(44): Show |
intron_variant | MODIFIER | c.1030+715G>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113426445 | |||||||
| chr9:113426749 | G | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.1030+1019G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113426749 | |||||||
| chr9:113426759 | C | T | 1 | a0001c0001t0001g0050 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1030+1029C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113426759 | |||||||
| chr9:113427129 | G | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.1031-1018G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427129 | |||||||
| chr9:113427149 | T | C | 1 | a0001c0001t0001g0058 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1031-998T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427149 | |||||||
| chr9:113427172 | T | C | 2 | a0001c0001t0001g0080 a0001c0001t0001g0085 |
2 | HG02922.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1031-975T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427172 | |||||||
| chr9:113427477 | A | C | 1 | a0001c0001t0001g0026 | 2 | HG00280.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.1031-670A>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427477 | |||||||
| chr9:113427513 | C | T | 5 | a0001c0001t0001g0036 a0004c0004t0001g0013 a0004c0004t0001g0019 others(2): Show |
8 | HG02280.hp2 HG02818.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1031-634C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427513 | |||||||
| chr9:113427551 | G | A | 1 | a0002c0002t0001g0037 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1031-596G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427551 | |||||||
| chr9:113427668 | C | G | 9 | a0001c0001t0001g0021 a0001c0001t0001g0080 a0001c0001t0001g0085 others(6): Show |
23 | HG00140.hp2 HG00735.hp1 HG00738.hp1 others(20): Show |
intron_variant | MODIFIER | c.1031-479C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427668 | |||||||
| chr9:113427766 | C | G | 1 | a0001c0001t0001g0049 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1031-381C>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427766 | |||||||
| chr9:113427828 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1031-319C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427828 | |||||||
| chr9:113427906 | T | A | 1 | a0001c0001t0001g0059 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1031-241T>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427906 | |||||||
| chr9:113427919 | A | G | 3 | a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0001g0071 |
10 | NA18946.hp2 NA18965.hp1 NA18979.hp1 others(7): Show |
intron_variant | MODIFIER | c.1031-228A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 11/13 | chr9 | 113427919 | |||||||
| chr9:113428251 | G | T | 2 | a0001c0001t0005g0031 a0001c0001t0005g0032 |
2 | HG02055.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.1107+28G>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 12/13 | chr9 | 113428251 | |||||||
| chr9:113428342 | C | T | 1 | a0001c0001t0004g0024 | 2 | HG02615.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1107+119C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 12/13 | chr9 | 113428342 | |||||||
| chr9:113428424 | C | T | 1 | a0002c0002t0001g0038 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1107+201C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 12/13 | chr9 | 113428424 | |||||||
| chr9:113428467 | CTCATGAA others(7): Show |
C | 3 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0008c0010t0001g0010 |
6 | HG01243.hp1 HG02572.hp1 HG03516.hp2 others(3): Show |
intron_variant | MODIFIER | c.1107+261_1107+274d others(16): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | 113428467 | ||||||
| chr9:113428561 | C | T | 8 | a0001c0001t0001g0021 a0001c0001t0001g0080 a0001c0001t0001g0085 others(5): Show |
20 | HG00140.hp2 HG00738.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.1107+338C>T | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 12/13 | chr9 | 113428561 | |||||||
| chr9:113428667 | T | C | 1 | a0002c0002t0001g0037 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1108-233T>C | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 12/13 | chr9 | 113428667 | |||||||
| chr9:113428757 | G | A | 3 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.1108-143G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 12/13 | chr9 | 113428757 | |||||||
| chr9:113428889 | A | G | 7 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0001g0085 others(4): Show |
16 | HG00140.hp2 HG00738.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.1108-11A>G | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 12/13 | chr9 | 113428889 | |||||||
| chr9:113428964 | G | A | 4 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0084 others(1): Show |
21 | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(18): Show |
splice_donor_variant&intron_variant | HIGH | c.1171+1G>A | C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 13/13 | chr9 | 113428964 |