Item | Value |
---|---|
geneid | 8227 |
ensemblid | ENSG00000197976.12 |
hgncid | 18783 |
symbol | AKAP17A |
name | A-kinase anchoring protein 17A |
refseq_nuc | NM_005088.3 |
refseq_prot | NP_005079.2 |
ensembl_nuc | ENST00000313871.9 |
ensembl_prot | ENSP00000324827.3 |
mane_status | MANE Select |
chr | chrX |
start | 1591604 |
end | 1602520 |
strand | + |
ver | v1.2 |
region | chrX:1591604-1602520 |
region5000 | chrX:1586604-1607520 |
regionname0 | AKAP17A_chrX_1591604_1602520 |
regionname5000 | AKAP17A_chrX_1586604_1607520 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 695 | 77 | 13 | 21 | 31 | 3 | 8 | 20 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
a0002 | 1/0 | 695 | 63 | 25 | 14 | 18 | 1 | 4 | 11 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
a0003 | 0/0 | 695 | 3 | 1 | 0 | 0 | 0 | 2 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
a0004 | 0/0 | 695 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
a0005 | 0/0 | 695 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
a0006 | 0/0 | 695 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
a0007 | 0/0 | 695 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
a0008 | 0/0 | 695 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
a0009 | 0/0 | 695 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
a0010 | 0/0 | 695 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | MAAAT others(690): Show |
chrX | 1586604 | 1607520 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 2085 | 56 | 10 | 16 | 22 | 1 | 6 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0001c0004 | 0/0 | 2085 | 12 | 2 | 5 | 3 | 1 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0001c0005 | 0/0 | 2085 | 7 | 0 | 0 | 5 | 1 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0001c0010 | 0/0 | 2085 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0001c0018 | 0/0 | 2085 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0002c0002 | 1/0 | 2085 | 40 | 8 | 12 | 15 | 1 | 3 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0002c0003 | 0/0 | 2085 | 21 | 16 | 2 | 2 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0002c0012 | 0/0 | 2085 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0002c0015 | 0/0 | 2085 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0003c0006 | 0/0 | 2085 | 2 | 0 | 0 | 0 | 0 | 2 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0003c0016 | 0/0 | 2085 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0004c0007 | 0/0 | 2085 | 2 | 2 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0005c0017 | 0/0 | 2085 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0006c0011 | 0/0 | 2085 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0007c0013 | 0/0 | 2085 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0008c0008 | 0/0 | 2085 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0009c0009 | 0/0 | 2085 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 | ||
a0010c0014 | 0/0 | 2085 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | ATGGC others(2080): Show |
chrX | 1586604 | 1607520 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 3199 | 50 | 8 | 15 | 20 | 1 | 5 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0001t0002 | 0/0 | 3199 | 2 | 0 | 1 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0001t0007 | 0/0 | 3199 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0001t0008 | 0/0 | 3199 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0001t0012 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0001t0013 | 0/0 | 3188 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3183): Show |
chrX | 1586604 | 1607520 |
a0001c0004t0001 | 0/0 | 3199 | 9 | 2 | 4 | 2 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0004t0002 | 0/0 | 3199 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0004t0010 | 0/0 | 3199 | 1 | 0 | 0 | 0 | 1 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0004t0016 | 0/0 | 3199 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0005t0001 | 0/0 | 3199 | 6 | 0 | 0 | 5 | 1 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0005t0011 | 0/0 | 3199 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0010t0003 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0001c0018t0001 | 0/0 | 3199 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0002t0001 | 0/0 | 3199 | 2 | 0 | 1 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0002t0002 | 1/0 | 3199 | 31 | 1 | 11 | 14 | 1 | 3 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0002t0003 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0002t0005 | 0/0 | 3199 | 4 | 4 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0002t0014 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0002t0015 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0003t0001 | 0/0 | 3199 | 3 | 3 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0003t0002 | 0/0 | 3199 | 11 | 7 | 1 | 2 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0003t0003 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0003t0004 | 0/0 | 3199 | 4 | 4 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0003t0006 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0003t0009 | 0/0 | 3199 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0012t0002 | 0/0 | 3199 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0002c0015t0002 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0003c0006t0003 | 0/0 | 3199 | 2 | 0 | 0 | 0 | 0 | 2 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0003c0016t0003 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0004c0007t0001 | 0/0 | 3199 | 2 | 2 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0005c0017t0001 | 0/0 | 3199 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0006c0011t0003 | 0/0 | 3199 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0007c0013t0002 | 0/0 | 3199 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0008c0008t0001 | 0/0 | 3199 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0009c0009t0001 | 0/0 | 3199 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
a0010c0014t0002 | 0/0 | 3199 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | GTCAT others(3194): Show |
chrX | 1586604 | 1607520 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 7 | 1 | 3 | 3 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0003 | 0/0 | 3 | 1 | 2 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0005 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0007 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0008 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0009 | 0/0 | 3 | 0 | 2 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0014 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0016 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0090 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0002g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0002g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0007g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0008g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0012g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0001t0013g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0010g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0004t0016g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0005t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0005t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0005t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0005t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0005t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0005t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0005t0011g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0010t0003g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0001c0018t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0001 | 1/0 | 14 | 0 | 3 | 9 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0019 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0003g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0005g0004 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0005g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0014g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0002t0015g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0013 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0002g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0003g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0004g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0004g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0004g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0004g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0006g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0003t0009g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0012t0002g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0002c0015t0002g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0003c0006t0003g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0003c0006t0003g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0003c0016t0003g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0004c0007t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0004c0007t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0005c0017t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0006c0011t0003g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0007c0013t0002g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0008c0008t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0009c0009t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
a0010c0014t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0004 | t0010 | g0062 | EUR | GBR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0078 | EUR | GBR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00140 | hp1 | a0002 | c0002 | t0002 | g0019 | EUR | GBR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00408 | hp1 | a0001 | c0005 | t0001 | g0051 | EAS | CHS | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00408 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | CHS | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00438 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | CHS | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00438 | hp2 | a0002 | c0002 | t0002 | g0041 | EAS | CHS | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | CHS | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00733 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00733 | hp2 | a0002 | c0002 | t0002 | g0039 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG00738 | hp1 | a0002 | c0002 | t0002 | g0040 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01069 | hp1 | a0002 | c0003 | t0009 | g0102 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01071 | hp1 | a0002 | c0003 | t0002 | g0043 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01071 | hp2 | a0002 | c0002 | t0002 | g0028 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01081 | hp1 | a0001 | c0004 | t0001 | g0035 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01081 | hp2 | a0001 | c0001 | t0001 | g0074 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01168 | hp2 | a0001 | c0004 | t0016 | g0017 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01175 | hp2 | a0002 | c0002 | t0002 | g0026 | AMR | PUR | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01257 | hp1 | a0002 | c0002 | t0002 | g0032 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01257 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01346 | hp1 | a0001 | c0004 | t0001 | g0010 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01358 | hp1 | a0001 | c0001 | t0002 | g0088 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01361 | hp1 | a0001 | c0004 | t0001 | g0024 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0083 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01515 | hp1 | a0001 | c0005 | t0001 | g0057 | EUR | IBS | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01884 | hp1 | a0002 | c0002 | t0002 | g0047 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01884 | hp2 | a0002 | c0003 | t0003 | g0103 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01891 | hp1 | a0002 | c0015 | t0002 | g0084 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0037 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01978 | hp1 | a0002 | c0002 | t0002 | g0029 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01978 | hp2 | a0002 | c0002 | t0002 | g0001 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01993 | hp2 | a0002 | c0002 | t0002 | g0011 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02004 | hp1 | a0002 | c0002 | t0002 | g0027 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02004 | hp2 | a0002 | c0002 | t0002 | g0001 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | KHV | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02040 | hp1 | a0002 | c0002 | t0002 | g0012 | EAS | KHV | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | KHV | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02080 | hp1 | a0002 | c0002 | t0002 | g0071 | EAS | KHV | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02080 | hp2 | a0002 | c0002 | t0002 | g0033 | EAS | KHV | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02132 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | KHV | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | KHV | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02145 | hp1 | a0004 | c0007 | t0001 | g0003 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02148 | hp1 | a0002 | c0002 | t0001 | g0001 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02148 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02155 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CDX | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02155 | hp2 | a0001 | c0004 | t0001 | g0018 | EAS | CDX | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02165 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | CDX | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | CDX | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02273 | hp1 | a0005 | c0017 | t0001 | g0015 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02273 | hp2 | a0001 | c0004 | t0001 | g0034 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02280 | hp1 | a0002 | c0002 | t0015 | g0063 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02280 | hp2 | a0002 | c0002 | t0005 | g0004 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0089 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0015 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02300 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | PEL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02451 | hp1 | a0002 | c0003 | t0004 | g0107 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02451 | hp2 | a0001 | c0010 | t0003 | g0104 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02630 | hp1 | a0002 | c0002 | t0003 | g0058 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02630 | hp2 | a0001 | c0004 | t0001 | g0048 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02723 | hp1 | a0004 | c0007 | t0001 | g0075 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02738 | hp1 | a0002 | c0002 | t0002 | g0023 | SAS | PJL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02809 | hp1 | a0001 | c0001 | t0001 | g0096 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02809 | hp2 | a0002 | c0003 | t0002 | g0070 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02818 | hp1 | a0002 | c0003 | t0002 | g0013 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02818 | hp2 | a0001 | c0001 | t0012 | g0060 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02922 | hp1 | a0001 | c0001 | t0001 | g0072 | AFR | ESN | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02922 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02970 | hp1 | a0002 | c0003 | t0002 | g0013 | AFR | ESN | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02970 | hp2 | a0002 | c0003 | t0001 | g0101 | AFR | ESN | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02976 | hp1 | a0001 | c0004 | t0001 | g0046 | AFR | ESN | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02976 | hp2 | a0006 | c0011 | t0003 | g0105 | AFR | ESN | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03139 | hp1 | a0002 | c0003 | t0001 | g0044 | AFR | ESN | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03195 | hp1 | a0002 | c0003 | t0004 | g0067 | AFR | ESN | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03195 | hp2 | a0002 | c0002 | t0014 | g0064 | AFR | ESN | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03225 | hp1 | a0002 | c0003 | t0002 | g0049 | AFR | MSL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03453 | hp1 | a0002 | c0003 | t0006 | g0061 | AFR | MSL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03453 | hp2 | a0002 | c0003 | t0001 | g0068 | AFR | MSL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03486 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | MSL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03486 | hp2 | a0002 | c0002 | t0005 | g0065 | AFR | MSL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03490 | hp1 | a0002 | c0002 | t0002 | g0001 | SAS | PJL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03491 | hp1 | a0007 | c0013 | t0002 | g0021 | SAS | PJL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03491 | hp2 | a0001 | c0001 | t0001 | g0080 | SAS | PJL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03540 | hp1 | a0003 | c0016 | t0003 | g0095 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03540 | hp2 | a0002 | c0003 | t0002 | g0106 | AFR | GWD | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03669 | hp1 | a0001 | c0001 | t0001 | g0008 | SAS | PJL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03669 | hp2 | a0001 | c0004 | t0001 | g0025 | SAS | PJL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03688 | hp1 | a0003 | c0006 | t0003 | g0087 | SAS | STU | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03704 | hp1 | a0003 | c0006 | t0003 | g0081 | SAS | PJL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03704 | hp2 | a0001 | c0005 | t0011 | g0053 | SAS | PJL | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0009 | SAS | BEB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0082 | SAS | BEB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03927 | hp1 | a0002 | c0002 | t0002 | g0010 | SAS | BEB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG03927 | hp2 | a0001 | c0001 | t0007 | g0097 | SAS | BEB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG04184 | hp1 | a0001 | c0001 | t0001 | g0036 | SAS | BEB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG04184 | hp2 | a0008 | c0008 | t0001 | g0052 | SAS | BEB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | CHB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18940 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18942 | hp1 | a0002 | c0003 | t0002 | g0077 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18942 | hp2 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18945 | hp2 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18947 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18947 | hp2 | a0002 | c0003 | t0002 | g0059 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18948 | hp1 | a0002 | c0002 | t0001 | g0031 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18951 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18961 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18973 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18973 | hp2 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18977 | hp1 | a0001 | c0004 | t0002 | g0030 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18982 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18990 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18994 | hp1 | a0001 | c0005 | t0001 | g0056 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18999 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18999 | hp2 | a0009 | c0009 | t0001 | g0050 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19005 | hp1 | a0002 | c0012 | t0002 | g0011 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19062 | hp1 | a0010 | c0014 | t0002 | g0098 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19064 | hp2 | a0001 | c0005 | t0001 | g0020 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19067 | hp1 | a0001 | c0005 | t0001 | g0055 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19068 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19074 | hp1 | a0001 | c0005 | t0001 | g0054 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19080 | hp1 | a0001 | c0018 | t0001 | g0006 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19080 | hp2 | a0002 | c0002 | t0002 | g0022 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19088 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA19091 | hp1 | a0001 | c0004 | t0001 | g0012 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA20129 | hp1 | a0002 | c0003 | t0004 | g0042 | AFR | ASW | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ASW | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA20905 | hp1 | a0002 | c0003 | t0002 | g0085 | SAS | GIH | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01123 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG01123 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | CLM | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02486 | hp1 | a0002 | c0002 | t0005 | g0004 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02559 | hp1 | a0002 | c0003 | t0004 | g0066 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG02559 | hp2 | a0002 | c0003 | t0002 | g0108 | AFR | ACB | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | USA | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
HG06807 | hp2 | a0001 | c0001 | t0013 | g0076 | AFR | USA | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA18955 | hp1 | a0001 | c0001 | t0008 | g0006 | EAS | JPT | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA20300 | hp1 | a0002 | c0002 | t0005 | g0004 | AFR | USA | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
NA20300 | hp2 | a0002 | c0003 | t0002 | g0069 | AFR | USA | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0090 | REF | REF | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
homoSapiens | grch38p0 | a0002 | c0002 | t0002 | g0001 | REF | REF | AKAP17A_chrX_1586604_1607520 | AKAP17A | chrX | 1586604 | 1607520 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:1600981 | C | T | 1 | a0008 | 1 | HG04184.hp2 | missense_variant | MODERATE | c.1475C>T | p.Pro492Leu | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 1660/3199 | 1475/2088 | 492/695 | chrX | 1600981 | |||
chrX:1601004 | C | G | 6 | a0001 a0004 a0005 others(3): Show |
82 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(79): Show |
missense_variant | MODERATE | c.1498C>G | p.Pro500Ala | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 1683/3199 | 1498/2088 | 500/695 | chrX | 1601004 | |||
chrX:1601035 | A | G | 1 | a0010 | 1 | NA19062.hp1 | missense_variant | MODERATE | c.1529A>G | p.Lys510Arg | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 1714/3199 | 1529/2088 | 510/695 | chrX | 1601035 | |||
chrX:1601040 | G | A | 1 | a0004 | 2 | HG02145.hp1 HG02723.hp1 |
missense_variant | MODERATE | c.1534G>A | p.Val512Met | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 1719/3199 | 1534/2088 | 512/695 | chrX | 1601040 | |||
chrX:1601134 | C | T | 2 | a0003 a0006 |
4 | HG02976.hp2 HG03540.hp1 HG03688.hp1 others(1): Show |
missense_variant | MODERATE | c.1628C>T | p.Pro543Leu | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 1813/3199 | 1628/2088 | 543/695 | chrX | 1601134 | |||
chrX:1601422 | C | T | 1 | a0005 | 1 | HG02273.hp1 | missense_variant | MODERATE | c.1916C>T | p.Thr639Met | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 2101/3199 | 1916/2088 | 639/695 | chrX | 1601422 | |||
chrX:1601428 | C | T | 1 | a0009 | 1 | NA18999.hp2 | missense_variant | MODERATE | c.1922C>T | p.Pro641Leu | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 2107/3199 | 1922/2088 | 641/695 | chrX | 1601428 | |||
chrX:1601545 | G | A | 1 | a0007 | 1 | HG03491.hp1 | missense_variant | MODERATE | c.2039G>A | p.Arg680Gln | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 2224/3199 | 2039/2088 | 680/695 | chrX | 1601545 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:1593471 | G | A | 3 | a0001c0005 a0008c0008 a0009c0009 |
9 | HG00408.hp1 HG01515.hp1 HG03704.hp2 others(6): Show |
synonymous_variant | LOW | c.9G>A | p.Ala3Ala | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/5 | 194/3199 | 9/2088 | 3/695 | chrX | 1593471 | |||
chrX:1593588 | G | A | 2 | a0001c0010 a0006c0011 |
2 | HG02451.hp2 HG02976.hp2 |
synonymous_variant | LOW | c.126G>A | p.Pro42Pro | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/5 | 311/3199 | 126/2088 | 42/695 | chrX | 1593588 | |||
chrX:1593801 | C | T | 1 | a0009c0009 | 1 | NA18999.hp2 | synonymous_variant | LOW | c.339C>T | p.Arg113Arg | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/5 | 524/3199 | 339/2088 | 113/695 | chrX | 1593801 | |||
chrX:1594062 | G | A | 1 | a0002c0012 | 1 | NA19005.hp1 | synonymous_variant | LOW | c.600G>A | p.Thr200Thr | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/5 | 785/3199 | 600/2088 | 200/695 | chrX | 1594062 | |||
chrX:1594128 | C | T | 8 | a0001c0001 a0001c0018 a0002c0003 others(5): Show |
84 | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(81): Show |
synonymous_variant | LOW | c.666C>T | p.Arg222Arg | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/5 | 851/3199 | 666/2088 | 222/695 | chrX | 1594128 | |||
chrX:1599408 | C | T | 1 | a0001c0018 | 1 | NA19080.hp1 | synonymous_variant | LOW | c.1128C>T | p.Ile376Ile | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/5 | 1313/3199 | 1128/2088 | 376/695 | chrX | 1599408 | |||
chrX:1600703 | G | A | 1 | a0003c0006 | 2 | HG03688.hp1 HG03704.hp1 |
synonymous_variant | LOW | c.1197G>A | p.Arg399Arg | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 1382/3199 | 1197/2088 | 399/695 | chrX | 1600703 | |||
chrX:1600955 | G | A | 1 | a0002c0015 | 1 | HG01891.hp1 | synonymous_variant | LOW | c.1449G>A | p.Thr483Thr | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 1634/3199 | 1449/2088 | 483/695 | chrX | 1600955 | |||
chrX:1601549 | G | A | 1 | a0002c0015 | 1 | HG01891.hp1 | synonymous_variant | LOW | c.2043G>A | p.Ser681Ser | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 2228/3199 | 2043/2088 | 681/695 | chrX | 1601549 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:1593449 | A | G | 4 | a0001c0004t0016 a0002c0002t0005 a0002c0002t0014 others(1): Show |
7 | HG01168.hp2 HG02280.hp1 HG02280.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-14A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/5 | 14 | chrX | 1593449 | ||||||
chrX:1601601 | GCACGGCC others(4): Show |
G | 1 | a0001c0001t0013 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*16_*26delCCCCACGG others(3): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 16 | INFO_REALIGN_3_PRIME | chrX | 1601601 | |||||
chrX:1601774 | T | C | 2 | a0002c0002t0014 a0002c0003t0004 |
5 | HG02451.hp1 HG02559.hp1 HG03195.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*180T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 180 | chrX | 1601774 | ||||||
chrX:1601848 | T | C | 1 | a0002c0002t0005 | 4 | HG02280.hp2 HG02486.hp1 HG03486.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*254T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 254 | chrX | 1601848 | ||||||
chrX:1601928 | C | T | 18 | a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(15): Show |
83 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(80): Show |
3_prime_UTR_variant | MODIFIER | c.*334C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 334 | chrX | 1601928 | ||||||
chrX:1601974 | A | G | 1 | a0002c0003t0006 | 1 | HG03453.hp1 | 3_prime_UTR_variant | MODIFIER | c.*380A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 380 | chrX | 1601974 | ||||||
chrX:1602021 | G | A | 1 | a0001c0001t0007 | 1 | HG03927.hp2 | 3_prime_UTR_variant | MODIFIER | c.*427G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 427 | chrX | 1602021 | ||||||
chrX:1602044 | C | G | 1 | a0001c0001t0012 | 1 | HG02818.hp2 | 3_prime_UTR_variant | MODIFIER | c.*450C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 450 | chrX | 1602044 | ||||||
chrX:1602365 | G | T | 1 | a0001c0005t0011 | 1 | HG03704.hp2 | 3_prime_UTR_variant | MODIFIER | c.*771G>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 771 | chrX | 1602365 | ||||||
chrX:1602393 | T | C | 1 | a0001c0001t0008 | 1 | NA18955.hp1 | 3_prime_UTR_variant | MODIFIER | c.*799T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 799 | chrX | 1602393 | ||||||
chrX:1602448 | C | T | 1 | a0001c0004t0010 | 1 | HG00099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*854C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 854 | chrX | 1602448 | ||||||
chrX:1602449 | G | A | 7 | a0001c0010t0003 a0002c0002t0003 a0002c0003t0003 others(4): Show |
8 | HG01069.hp1 HG01884.hp2 HG02451.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*855G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 855 | chrX | 1602449 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:1591806 | A | T | 8 | a0001c0010t0003g0104 a0002c0003t0001g0101 a0002c0003t0002g0106 others(5): Show |
8 | HG01069.hp1 HG01884.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.-20+37A>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591806 | |||||||
chrX:1591809 | C | T | 1 | a0001c0001t0001g0100 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-20+40C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591809 | |||||||
chrX:1591835 | G | C | 1 | a0001c0004t0016g0017 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-20+66G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591835 | |||||||
chrX:1591839 | C | T | 1 | a0001c0001t0001g0099 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-20+70C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591839 | |||||||
chrX:1591852 | C | G | 1 | a0010c0014t0002g0098 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-20+83C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591852 | |||||||
chrX:1591853 | T | C | 1 | a0010c0014t0002g0098 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-20+84T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591853 | |||||||
chrX:1591855 | G | T | 1 | a0010c0014t0002g0098 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-20+86G>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591855 | |||||||
chrX:1591874 | C | T | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(77): Show |
101 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.-20+105C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591874 | |||||||
chrX:1591878 | G | A | 1 | a0001c0001t0001g0045 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-20+109G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591878 | |||||||
chrX:1591939 | A | G | 10 | a0001c0004t0016g0017 a0001c0010t0003g0104 a0002c0003t0001g0044 others(7): Show |
10 | HG01069.hp1 HG01168.hp2 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.-20+170A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591939 | |||||||
chrX:1591940 | A | G | 10 | a0001c0004t0016g0017 a0001c0010t0003g0104 a0002c0003t0001g0044 others(7): Show |
10 | HG01069.hp1 HG01168.hp2 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.-20+171A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591940 | |||||||
chrX:1591950 | G | C | 14 | a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0016g0017 others(11): Show |
14 | HG01069.hp1 HG01168.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.-20+181G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1591950 | |||||||
chrX:1592272 | A | G | 65 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(62): Show |
86 | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.-20+503A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1592272 | |||||||
chrX:1592366 | A | T | 1 | a0001c0001t0007g0097 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-20+597A>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1592366 | |||||||
chrX:1592372 | G | A | 1 | a0001c0001t0001g0038 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-20+603G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1592372 | |||||||
chrX:1592439 | G | A | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-20+670G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1592439 | |||||||
chrX:1592530 | C | T | 1 | a0001c0004t0010g0062 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-20+761C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1592530 | |||||||
chrX:1592704 | G | C | 2 | a0002c0003t0004g0066 a0002c0003t0004g0067 |
2 | HG02559.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.-19-740G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1592704 | |||||||
chrX:1592775 | G | C | 9 | a0001c0004t0016g0017 a0002c0002t0005g0004 a0002c0002t0005g0065 others(6): Show |
11 | HG01069.hp1 HG01168.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.-19-669G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1592775 | |||||||
chrX:1592811 | G | T | 1 | a0001c0001t0001g0099 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-19-633G>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1592811 | |||||||
chrX:1592849 | A | C | 1 | a0001c0001t0001g0037 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-19-595A>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1592849 | |||||||
chrX:1593011 | G | A | 2 | a0001c0010t0003g0104 a0006c0011t0003g0105 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-19-433G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1593011 | |||||||
chrX:1593311 | G | A | 8 | a0002c0003t0001g0068 a0002c0003t0002g0013 a0002c0003t0002g0069 others(5): Show |
9 | HG02559.hp1 HG02559.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.-19-133G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1593311 | |||||||
chrX:1593340 | G | GT | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.-19-101dupT | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 1593340 | ||||||
chrX:1593395 | G | A | 1 | a0001c0004t0010g0062 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-19-49G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1/4 | chrX | 1593395 | |||||||
chrX:1594275 | C | T | 65 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(62): Show |
84 | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(81): Show |
intron_variant | MODIFIER | c.762+51C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1594275 | |||||||
chrX:1594574 | C | T | 8 | a0002c0003t0001g0068 a0002c0003t0002g0013 a0002c0003t0002g0069 others(5): Show |
9 | HG02559.hp1 HG02559.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.762+350C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1594574 | |||||||
chrX:1594636 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0096 others(1): Show |
5 | HG01891.hp2 HG02723.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.762+412C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1594636 | |||||||
chrX:1594986 | G | A | 2 | a0001c0010t0003g0104 a0006c0011t0003g0105 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.763-398G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1594986 | |||||||
chrX:1594996 | G | A | 3 | a0001c0004t0001g0046 a0001c0004t0001g0048 a0002c0002t0002g0047 |
3 | HG01884.hp1 HG02630.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.763-388G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1594996 | |||||||
chrX:1594999 | C | T | 3 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 |
5 | HG02280.hp2 HG02486.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.763-385C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1594999 | |||||||
chrX:1595096 | G | A | 1 | a0001c0004t0001g0018 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.763-288G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1595096 | |||||||
chrX:1595122 | A | G | 1 | a0002c0002t0003g0058 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.763-262A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1595122 | |||||||
chrX:1595193 | C | T | 4 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(1): Show |
4 | HG00558.hp2 HG02135.hp1 HG02165.hp2 others(1): Show |
intron_variant | MODIFIER | c.763-191C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1595193 | |||||||
chrX:1595229 | CTGGGTCT others(14): Show |
C | 1 | a0001c0001t0007g0097 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.763-151_763-131del others(21): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 1595229 | ||||||
chrX:1595230 | TGGGTCTG others(21): Show |
T | 76 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(73): Show |
95 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.763-151_763-124del others(28): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 1595230 | ||||||
chrX:1595241 | C | T | 1 | a0001c0004t0016g0017 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.763-143C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1595241 | |||||||
chrX:1595245 | CATGAGTG | C | 2 | a0002c0002t0003g0058 a0006c0011t0003g0105 |
2 | HG02630.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.763-138_763-132del others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1595245 | |||||||
chrX:1595246 | A | G | 6 | a0001c0004t0016g0017 a0001c0010t0003g0104 a0002c0002t0005g0004 others(3): Show |
8 | HG01168.hp2 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.763-138A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1595246 | |||||||
chrX:1595251 | TGGTGAGC | T | 7 | a0001c0004t0016g0017 a0001c0010t0003g0104 a0002c0002t0002g0019 others(4): Show |
9 | HG00140.hp1 HG01168.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.763-116_763-110del others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 1595251 | ||||||
chrX:1595258 | C | T | 2 | a0002c0002t0003g0058 a0006c0011t0003g0105 |
2 | HG02630.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.763-126C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1595258 | |||||||
chrX:1595300 | C | T | 1 | a0001c0004t0016g0017 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.763-84C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | 1595300 | |||||||
chrX:1595578 | G | A | 9 | a0001c0005t0001g0020 a0001c0005t0001g0051 a0001c0005t0001g0054 others(6): Show |
9 | HG00408.hp1 HG01515.hp1 HG03704.hp2 others(6): Show |
intron_variant | MODIFIER | c.911+46G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1595578 | |||||||
chrX:1595609 | T | C | 1 | a0007c0013t0002g0021 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.911+77T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1595609 | |||||||
chrX:1595720 | C | T | 67 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(64): Show |
86 | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.911+188C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1595720 | |||||||
chrX:1595747 | G | T | 1 | a0002c0002t0002g0033 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.911+215G>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1595747 | |||||||
chrX:1595831 | A | T | 1 | a0001c0001t0001g0089 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.911+299A>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1595831 | |||||||
chrX:1595964 | A | G | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+432A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1595964 | |||||||
chrX:1595966 | G | A | 1 | a0001c0004t0016g0017 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.911+434G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1595966 | |||||||
chrX:1595966 | G | T | 2 | a0002c0003t0003g0103 a0002c0003t0009g0102 |
2 | HG01069.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.911+434G>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1595966 | |||||||
chrX:1595988 | G | A | 2 | a0002c0003t0003g0103 a0002c0003t0009g0102 |
2 | HG01069.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.911+456G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1595988 | |||||||
chrX:1596075 | G | A | 1 | a0001c0004t0016g0017 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.911+543G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596075 | |||||||
chrX:1596089 | G | A | 3 | a0001c0005t0001g0020 a0001c0005t0001g0051 a0009c0009t0001g0050 |
3 | HG00408.hp1 NA18999.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.911+557G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596089 | |||||||
chrX:1596113 | T | C | 5 | a0001c0004t0016g0017 a0002c0002t0005g0004 a0002c0002t0005g0065 others(2): Show |
7 | HG01168.hp2 HG02280.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.911+581T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596113 | |||||||
chrX:1596226 | T | TA | 53 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(50): Show |
72 | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.911+711dupA | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596226 | ||||||
chrX:1596226 | T | TAA | 18 | a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0073 others(15): Show |
18 | HG01069.hp1 HG01081.hp2 HG01168.hp2 others(15): Show |
intron_variant | MODIFIER | c.911+710_911+711dup others(2): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596226 | ||||||
chrX:1596235 | A | AC | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+703_911+704ins others(1): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596235 | |||||||
chrX:1596237 | A | AC | 2 | a0001c0001t0002g0088 a0003c0006t0003g0087 |
2 | HG01358.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.911+705_911+706ins others(1): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596237 | |||||||
chrX:1596239 | A | AC | 5 | a0001c0001t0012g0060 a0002c0002t0003g0058 a0002c0003t0002g0049 others(2): Show |
5 | HG02451.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.911+707_911+708ins others(1): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596239 | |||||||
chrX:1596244 | C | A | 4 | a0001c0001t0001g0072 a0001c0004t0016g0017 a0001c0010t0003g0104 others(1): Show |
4 | HG01168.hp2 HG02451.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.911+712C>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596244 | |||||||
chrX:1596254 | A | G | 12 | a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0005t0001g0020 others(9): Show |
12 | HG00408.hp1 HG01515.hp1 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.911+722A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596254 | |||||||
chrX:1596330 | C | A | 1 | a0001c0001t0001g0089 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.911+798C>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596330 | |||||||
chrX:1596357 | T | C | 1 | a0004c0007t0001g0075 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.911+825T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596357 | |||||||
chrX:1596368 | ATCT | A | 2 | a0001c0001t0001g0100 a0002c0002t0002g0033 |
2 | HG02080.hp2 NA18973.hp2 |
intron_variant | MODIFIER | c.911+841_911+843del others(3): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596368 | ||||||
chrX:1596431 | C | CTCCTCCT others(181): Show |
2 | a0001c0005t0001g0054 a0001c0005t0001g0055 |
2 | NA19067.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.911+941_911+942ins others(188): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596431 | ||||||
chrX:1596431 | C | CTCCTCCT others(1043): Show |
1 | a0002c0002t0003g0058 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.911+917_911+918ins others(1050): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596431 | ||||||
chrX:1596431 | CTCCTCCT others(40): Show |
C | 53 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(50): Show |
69 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(66): Show |
intron_variant | MODIFIER | c.911+942_911+988del others(47): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596431 | ||||||
chrX:1596431 | CTCCTCCT others(181): Show |
C | 5 | a0001c0004t0001g0046 a0001c0004t0001g0048 a0002c0002t0002g0047 others(2): Show |
5 | HG01069.hp1 HG01884.hp1 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.911+989_911+1176de others(1): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596431 | ||||||
chrX:1596445 | C | CCTCCATC others(322): Show |
1 | a0001c0005t0001g0056 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.911+941_911+942ins others(329): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596445 | ||||||
chrX:1596453 | C | CCTCCCAC others(40): Show |
3 | a0001c0001t0002g0088 a0002c0003t0002g0059 a0003c0006t0003g0087 |
3 | HG01358.hp1 HG03688.hp1 NA18947.hp2 |
intron_variant | MODIFIER | c.911+941_911+942ins others(47): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596453 | ||||||
chrX:1596474 | T | C | 21 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0083 others(18): Show |
26 | HG01123.hp2 HG01261.hp1 HG01361.hp2 others(23): Show |
intron_variant | MODIFIER | c.911+942T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596474 | |||||||
chrX:1596478 | T | A | 21 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0083 others(18): Show |
26 | HG01123.hp2 HG01261.hp1 HG01361.hp2 others(23): Show |
intron_variant | MODIFIER | c.911+946T>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596478 | |||||||
chrX:1596487 | C | T | 21 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0083 others(18): Show |
26 | HG01123.hp2 HG01261.hp1 HG01361.hp2 others(23): Show |
intron_variant | MODIFIER | c.911+955C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596487 | |||||||
chrX:1596492 | C | T | 20 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0083 others(17): Show |
25 | HG01123.hp2 HG01261.hp1 HG01361.hp2 others(22): Show |
intron_variant | MODIFIER | c.911+960C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596492 | |||||||
chrX:1596499 | C | G | 1 | a0001c0001t0007g0097 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.911+967C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596499 | |||||||
chrX:1596500 | C | A | 14 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0083 others(11): Show |
18 | HG01123.hp2 HG01261.hp1 HG01361.hp2 others(15): Show |
intron_variant | MODIFIER | c.911+968C>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596500 | |||||||
chrX:1596507 | CCCTCCTA others(341): Show |
C | 1 | a0002c0003t0004g0067 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.911+989_911+1336de others(1): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596507 | ||||||
chrX:1596521 | C | T | 26 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0083 others(23): Show |
31 | HG01123.hp2 HG01261.hp1 HG01358.hp1 others(28): Show |
intron_variant | MODIFIER | c.911+989C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596521 | |||||||
chrX:1596524 | A | ATTCCTCC others(2): Show |
4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+992_911+993ins others(9): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596524 | |||||||
chrX:1596525 | A | C | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+993A>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596525 | |||||||
chrX:1596525 | A | T | 22 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0083 others(19): Show |
25 | HG01123.hp2 HG01261.hp1 HG01358.hp1 others(22): Show |
intron_variant | MODIFIER | c.911+993A>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596525 | |||||||
chrX:1596534 | T | C | 23 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0001g0083 others(20): Show |
26 | HG01123.hp2 HG01261.hp1 HG01358.hp1 others(23): Show |
intron_variant | MODIFIER | c.911+1002T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596534 | |||||||
chrX:1596539 | C | T | 55 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(52): Show |
71 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.911+1007C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596539 | |||||||
chrX:1596547 | C | A | 54 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(51): Show |
70 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(67): Show |
intron_variant | MODIFIER | c.911+1015C>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596547 | |||||||
chrX:1596552 | C | CGCTGT | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+1020_911+1021i others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596552 | |||||||
chrX:1596553 | A | G | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+1021A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596553 | |||||||
chrX:1596568 | T | C | 5 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(2): Show |
7 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.911+1036T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596568 | |||||||
chrX:1596575 | C | G | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+1043C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596575 | |||||||
chrX:1596581 | C | CTCCTCCT others(2): Show |
4 | a0002c0003t0001g0068 a0002c0003t0002g0013 a0002c0003t0002g0070 others(1): Show |
5 | HG02809.hp2 HG02818.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.911+1057_911+1058i others(11): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596581 | ||||||
chrX:1596581 | C | T | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+1049C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596581 | |||||||
chrX:1596586 | C | A | 1 | a0002c0002t0003g0058 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.911+1054C>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596586 | |||||||
chrX:1596586 | C | T | 9 | a0001c0001t0012g0060 a0001c0004t0001g0012 a0001c0005t0001g0020 others(6): Show |
9 | HG02040.hp1 HG02080.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.911+1054C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596586 | |||||||
chrX:1596599 | C | CGCTGT | 4 | a0002c0003t0001g0068 a0002c0003t0002g0013 a0002c0003t0002g0070 others(1): Show |
5 | HG02809.hp2 HG02818.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.911+1067_911+1068i others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596599 | |||||||
chrX:1596599 | C | T | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+1067C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596599 | |||||||
chrX:1596600 | A | G | 8 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(5): Show |
11 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.911+1068A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596600 | |||||||
chrX:1596601 | C | CCGTGT | 4 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+1070_911+1071i others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596601 | ||||||
chrX:1596601 | CCCTCCTA others(247): Show |
C | 3 | a0001c0005t0011g0053 a0002c0003t0001g0044 a0002c0003t0001g0101 |
3 | HG02970.hp2 HG03139.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.911+1101_911+1354d others(2): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596601 | ||||||
chrX:1596615 | T | C | 2 | a0001c0001t0012g0060 a0002c0003t0006g0061 |
2 | HG02818.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.911+1083T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596615 | |||||||
chrX:1596619 | T | A | 2 | a0001c0001t0012g0060 a0002c0003t0006g0061 |
2 | HG02818.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.911+1087T>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596619 | |||||||
chrX:1596628 | C | CTCCTCCT others(2): Show |
2 | a0001c0010t0003g0104 a0002c0002t0002g0001 |
2 | HG02451.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.911+1104_911+1105i others(11): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596628 | ||||||
chrX:1596633 | C | T | 9 | a0001c0001t0012g0060 a0001c0005t0001g0051 a0001c0005t0001g0057 others(6): Show |
9 | HG00408.hp1 HG01515.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.911+1101C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596633 | |||||||
chrX:1596638 | ATCCCTCC others(247): Show |
A | 1 | a0002c0003t0004g0066 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.911+1130_911+1383d others(2): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596638 | ||||||
chrX:1596646 | C | CGCTGT | 2 | a0001c0010t0003g0104 a0002c0002t0002g0001 |
2 | HG02451.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.911+1114_911+1115i others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596646 | |||||||
chrX:1596647 | A | G | 2 | a0001c0010t0003g0104 a0002c0002t0002g0001 |
2 | HG02451.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.911+1115A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596647 | |||||||
chrX:1596648 | CCCTCCTA others(200): Show |
C | 1 | a0001c0001t0001g0002 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.911+1148_911+1354d others(2): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596648 | ||||||
chrX:1596662 | T | C | 9 | a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0010t0003g0104 others(6): Show |
9 | HG01069.hp1 HG01884.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.911+1130T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596662 | |||||||
chrX:1596666 | T | A | 7 | a0001c0004t0001g0046 a0001c0004t0001g0048 a0002c0002t0002g0047 others(4): Show |
7 | HG01069.hp1 HG01884.hp1 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.911+1134T>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596666 | |||||||
chrX:1596669 | C | G | 2 | a0001c0010t0003g0104 a0002c0002t0002g0001 |
2 | HG02451.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.911+1137C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596669 | |||||||
chrX:1596675 | C | CTCCTCCT others(5): Show |
1 | a0001c0001t0001g0082 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.911+1152_911+1153i others(14): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596675 | ||||||
chrX:1596675 | C | CTCCTCCT others(2): Show |
3 | a0001c0004t0010g0062 a0002c0002t0002g0033 a0002c0003t0002g0059 |
3 | HG00099.hp1 HG02080.hp2 NA18947.hp2 |
intron_variant | MODIFIER | c.911+1151_911+1152i others(11): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596675 | ||||||
chrX:1596675 | C | T | 7 | a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0010t0003g0104 others(4): Show |
7 | HG01069.hp1 HG01884.hp1 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.911+1143C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596675 | |||||||
chrX:1596680 | C | T | 15 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0038 others(12): Show |
16 | HG00408.hp2 HG01069.hp1 HG01099.hp1 others(13): Show |
intron_variant | MODIFIER | c.911+1148C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596680 | |||||||
chrX:1596685 | ATCCCTCC others(200): Show |
A | 1 | a0002c0003t0004g0042 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.911+1177_911+1383d others(2): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596685 | ||||||
chrX:1596688 | C | A | 5 | a0001c0004t0001g0046 a0001c0004t0001g0048 a0002c0002t0002g0047 others(2): Show |
5 | HG01069.hp1 HG01884.hp1 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.911+1156C>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596688 | |||||||
chrX:1596693 | C | T | 3 | a0001c0001t0001g0082 a0001c0010t0003g0104 a0002c0002t0002g0001 |
3 | HG02451.hp2 HG03834.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.911+1161C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596693 | |||||||
chrX:1596694 | A | G | 6 | a0001c0001t0001g0082 a0001c0004t0010g0062 a0001c0010t0003g0104 others(3): Show |
6 | HG00099.hp1 HG02080.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.911+1162A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596694 | |||||||
chrX:1596695 | C | CCCTCCTA others(247): Show |
1 | a0002c0002t0002g0022 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.911+1194_911+1195i others(256): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596695 | ||||||
chrX:1596695 | C | CCCTCCTA others(153): Show |
2 | a0002c0002t0002g0012 a0002c0002t0002g0071 |
2 | HG02040.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.911+1194_911+1195i others(162): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596695 | ||||||
chrX:1596695 | C | CCCTCCTA others(473): Show |
1 | a0001c0004t0001g0024 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.911+1194_911+1195i others(482): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596695 | ||||||
chrX:1596695 | C | CCCTCCTA others(106): Show |
17 | a0001c0004t0001g0010 a0001c0004t0001g0018 a0001c0004t0002g0030 others(14): Show |
27 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.911+1194_911+1195i others(115): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596695 | ||||||
chrX:1596695 | C | CCCTCCTA others(266): Show |
1 | a0002c0002t0002g0023 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.911+1194_911+1195i others(275): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596695 | ||||||
chrX:1596695 | C | CCCTCCTA others(105): Show |
1 | a0002c0002t0002g0026 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.911+1194_911+1195i others(114): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596695 | ||||||
chrX:1596695 | C | CCGTGT | 3 | a0001c0001t0001g0082 a0001c0010t0003g0104 a0002c0002t0002g0001 |
3 | HG02451.hp2 HG03834.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.911+1164_911+1165i others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596695 | ||||||
chrX:1596695 | C | CTGTGCCC others(50): Show |
2 | a0002c0002t0002g0033 a0002c0003t0002g0059 |
2 | HG02080.hp2 NA18947.hp2 |
intron_variant | MODIFIER | c.911+1163_911+1164i others(59): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596695 | |||||||
chrX:1596695 | C | CTGTGCCC others(210): Show |
1 | a0001c0004t0010g0062 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.911+1163_911+1164i others(219): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596695 | |||||||
chrX:1596695 | CCCTCCTA others(153): Show |
C | 5 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0038 others(2): Show |
6 | HG00408.hp2 HG01099.hp1 HG01168.hp2 others(3): Show |
intron_variant | MODIFIER | c.911+1224_911+1383d others(2): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596695 | ||||||
chrX:1596709 | T | C | 3 | a0001c0001t0002g0088 a0002c0002t0003g0058 a0002c0003t0002g0069 |
3 | HG01358.hp1 HG02630.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.911+1177T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596709 | |||||||
chrX:1596713 | T | A | 2 | a0001c0001t0002g0088 a0002c0003t0002g0069 |
2 | HG01358.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.911+1181T>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596713 | |||||||
chrX:1596722 | C | T | 1 | a0002c0003t0002g0069 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.911+1190C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596722 | |||||||
chrX:1596727 | T | C | 62 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(59): Show |
76 | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(73): Show |
intron_variant | MODIFIER | c.911+1195T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596727 | |||||||
chrX:1596732 | G | A | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(76): Show |
97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.911+1200G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596732 | |||||||
chrX:1596735 | C | A | 1 | a0002c0003t0002g0069 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.911+1203C>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596735 | |||||||
chrX:1596741 | A | G | 1 | a0002c0002t0002g0028 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.911+1209A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596741 | |||||||
chrX:1596742 | CCCTCCTA others(106): Show |
C | 12 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0037 others(9): Show |
13 | HG00408.hp1 HG01515.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.911+1242_911+1354d others(2): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596742 | ||||||
chrX:1596756 | T | C | 9 | a0001c0001t0001g0009 a0001c0001t0002g0088 a0002c0002t0002g0028 others(6): Show |
10 | HG01071.hp2 HG01358.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.911+1224T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596756 | |||||||
chrX:1596760 | T | A | 8 | a0001c0001t0001g0009 a0001c0001t0002g0088 a0002c0003t0001g0068 others(5): Show |
9 | HG01358.hp1 HG02809.hp2 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.911+1228T>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596760 | |||||||
chrX:1596768 | C | CTTCCTTC others(31): Show |
4 | a0002c0003t0001g0068 a0002c0003t0002g0013 a0002c0003t0002g0070 others(1): Show |
4 | HG02809.hp2 HG02818.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.911+1236_911+1237i others(40): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596768 | |||||||
chrX:1596768 | C | CTTCCTTC others(78): Show |
1 | a0002c0003t0002g0013 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.911+1236_911+1237i others(87): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596768 | |||||||
chrX:1596768 | C | CTTCCTTC others(125): Show |
1 | a0001c0001t0002g0088 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.911+1236_911+1237i others(134): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596768 | |||||||
chrX:1596769 | C | CTCCTCCT others(125): Show |
1 | a0001c0001t0001g0009 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.911+1245_911+1246i others(134): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596769 | ||||||
chrX:1596769 | C | CTCCTCCT others(172): Show |
1 | a0003c0006t0003g0087 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.911+1245_911+1246i others(181): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596769 | ||||||
chrX:1596769 | C | CTCCTTCT others(31): Show |
1 | a0002c0003t0006g0061 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.911+1241_911+1242i others(40): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596769 | ||||||
chrX:1596769 | C | T | 5 | a0001c0001t0002g0088 a0002c0003t0001g0068 a0002c0003t0002g0013 others(2): Show |
6 | HG01358.hp1 HG02809.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.911+1237C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596769 | |||||||
chrX:1596769 | CTCCTCCT others(2): Show |
C | 45 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(42): Show |
57 | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.911+1246_911+1254d others(11): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596769 | ||||||
chrX:1596772 | C | G | 1 | a0002c0002t0002g0028 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.911+1240C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596772 | |||||||
chrX:1596774 | CCTCTTCC others(106): Show |
C | 3 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 |
5 | HG02280.hp2 HG02486.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.911+1246_911+1358d others(2): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596774 | ||||||
chrX:1596778 | T | C | 9 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(6): Show |
10 | HG01358.hp1 HG02809.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.911+1246T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596778 | |||||||
chrX:1596783 | C | T | 37 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(34): Show |
49 | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(46): Show |
intron_variant | MODIFIER | c.911+1251C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596783 | |||||||
chrX:1596796 | C | T | 1 | a0002c0002t0002g0028 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.911+1264C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596796 | |||||||
chrX:1596796 | CGCTGT | C | 16 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(13): Show |
17 | HG01358.hp1 HG02280.hp1 HG02451.hp2 others(14): Show |
intron_variant | MODIFIER | c.911+1267_911+1271d others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596796 | ||||||
chrX:1596797 | G | A | 38 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(35): Show |
50 | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(47): Show |
intron_variant | MODIFIER | c.911+1265G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596797 | |||||||
chrX:1596798 | CTGTGCCC others(50): Show |
C | 37 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(34): Show |
49 | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(46): Show |
intron_variant | MODIFIER | c.911+1267_911+1323d others(59): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596798 | |||||||
chrX:1596799 | T | C | 1 | a0002c0002t0002g0028 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.911+1267T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596799 | |||||||
chrX:1596799 | TGTGCCCT others(50): Show |
T | 1 | a0001c0018t0001g0006 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.911+1268_911+1324d others(59): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596799 | |||||||
chrX:1596802 | G | A | 16 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(13): Show |
17 | HG01358.hp1 HG02280.hp1 HG02451.hp2 others(14): Show |
intron_variant | MODIFIER | c.911+1270G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596802 | |||||||
chrX:1596803 | C | T | 1 | a0002c0002t0002g0028 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.911+1271C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596803 | |||||||
chrX:1596817 | C | T | 22 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(19): Show |
23 | HG01069.hp1 HG01071.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.911+1285C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596817 | |||||||
chrX:1596824 | G | C | 22 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(19): Show |
23 | HG01069.hp1 HG01071.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.911+1292G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596824 | |||||||
chrX:1596830 | T | C | 22 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(19): Show |
23 | HG01069.hp1 HG01071.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.911+1298T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596830 | |||||||
chrX:1596835 | C | T | 9 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(6): Show |
9 | HG01071.hp2 HG01358.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.911+1303C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596835 | |||||||
chrX:1596848 | T | C | 22 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(19): Show |
23 | HG01069.hp1 HG01071.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.911+1316T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596848 | |||||||
chrX:1596849 | G | A | 22 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(19): Show |
23 | HG01069.hp1 HG01071.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.911+1317G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596849 | |||||||
chrX:1596850 | CCGTGT | C | 22 | a0001c0001t0001g0009 a0001c0001t0001g0082 a0001c0001t0002g0088 others(19): Show |
23 | HG01069.hp1 HG01071.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.911+1320_911+1324d others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596850 | ||||||
chrX:1596855 | T | TCCTCCTA others(1021): Show |
1 | a0002c0002t0003g0058 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.911+1354_911+1355i others(1030): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596855 | ||||||
chrX:1596855 | T | TCCTCCTA others(501): Show |
1 | a0002c0002t0002g0001 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.911+1354_911+1355i others(510): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596855 | ||||||
chrX:1596855 | T | TCCTCCTA others(40): Show |
24 | a0001c0004t0001g0010 a0001c0004t0001g0018 a0001c0004t0002g0030 others(21): Show |
34 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(31): Show |
intron_variant | MODIFIER | c.911+1359_911+1360i others(49): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596855 | ||||||
chrX:1596855 | T | TCCTCCTA others(134): Show |
1 | a0006c0011t0003g0105 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.911+1359_911+1360i others(143): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596855 | ||||||
chrX:1596855 | T | TCCTCCTA others(200): Show |
4 | a0001c0004t0001g0012 a0001c0005t0001g0054 a0001c0005t0001g0055 others(1): Show |
4 | NA18994.hp1 NA19067.hp1 NA19074.hp1 others(1): Show |
intron_variant | MODIFIER | c.911+1383_911+1384i others(209): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596855 | ||||||
chrX:1596869 | T | C | 3 | a0001c0001t0012g0060 a0002c0003t0002g0049 a0002c0003t0004g0107 |
3 | HG02451.hp1 HG02818.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.911+1337T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596869 | |||||||
chrX:1596873 | T | A | 3 | a0001c0001t0012g0060 a0002c0003t0002g0049 a0002c0003t0004g0107 |
3 | HG02451.hp1 HG02818.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.911+1341T>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596873 | |||||||
chrX:1596887 | T | C | 1 | a0001c0004t0016g0017 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.911+1355T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596887 | |||||||
chrX:1596892 | G | A | 82 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(79): Show |
103 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.911+1360G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596892 | |||||||
chrX:1596892 | G | GTCCCTCC others(200): Show |
1 | a0002c0003t0002g0059 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.911+1383_911+1384i others(209): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1596892 | ||||||
chrX:1596934 | A | C | 2 | a0001c0004t0001g0024 a0001c0004t0016g0017 |
2 | HG01168.hp2 HG01361.hp1 |
intron_variant | MODIFIER | c.911+1402A>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596934 | |||||||
chrX:1596960 | G | C | 1 | a0009c0009t0001g0050 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.911+1428G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596960 | |||||||
chrX:1596986 | G | A | 2 | a0002c0003t0004g0066 a0002c0003t0004g0067 |
2 | HG02559.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.911+1454G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1596986 | |||||||
chrX:1597013 | C | T | 1 | a0001c0001t0001g0036 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.911+1481C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597013 | |||||||
chrX:1597034 | G | A | 1 | a0001c0001t0001g0099 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.911+1502G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597034 | |||||||
chrX:1597175 | C | T | 6 | a0002c0003t0001g0068 a0002c0003t0002g0013 a0002c0003t0002g0069 others(3): Show |
7 | HG02559.hp2 HG02809.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.911+1643C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597175 | |||||||
chrX:1597225 | G | A | 12 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0073 others(9): Show |
16 | HG01123.hp1 HG01168.hp1 HG01361.hp1 others(13): Show |
intron_variant | MODIFIER | c.911+1693G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597225 | |||||||
chrX:1597269 | C | G | 1 | a0001c0001t0001g0094 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.911+1737C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597269 | |||||||
chrX:1597339 | T | TG | 8 | a0001c0001t0001g0093 a0001c0001t0007g0097 a0002c0002t0001g0031 others(5): Show |
8 | HG01257.hp1 HG02135.hp1 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.911+1814dupG | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1597339 | ||||||
chrX:1597458 | G | A | 2 | a0002c0003t0004g0066 a0002c0003t0004g0067 |
2 | HG02559.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.912-1734G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597458 | |||||||
chrX:1597507 | A | G | 98 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(95): Show |
119 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
intron_variant | MODIFIER | c.912-1685A>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597507 | |||||||
chrX:1597747 | T | C | 3 | a0001c0010t0003g0104 a0002c0003t0002g0106 a0006c0011t0003g0105 |
3 | HG02451.hp2 HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.912-1445T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597747 | |||||||
chrX:1597770 | GTC | G | 3 | a0002c0003t0001g0044 a0002c0003t0001g0101 a0002c0003t0002g0108 |
3 | HG02559.hp2 HG02970.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.912-1418_912-1417d others(4): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1597770 | ||||||
chrX:1597788 | C | T | 1 | a0002c0002t0005g0065 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.912-1404C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597788 | |||||||
chrX:1597878 | C | T | 1 | a0003c0006t0003g0081 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.912-1314C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597878 | |||||||
chrX:1597897 | T | C | 1 | a0002c0002t0002g0028 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.912-1295T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1597897 | |||||||
chrX:1598092 | C | G | 2 | a0001c0001t0001g0015 a0005c0017t0001g0015 |
2 | HG02273.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.912-1100C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598092 | |||||||
chrX:1598128 | G | A | 19 | a0001c0001t0001g0072 a0001c0004t0001g0046 a0001c0004t0001g0048 others(16): Show |
22 | HG01069.hp1 HG01884.hp2 HG02280.hp1 others(19): Show |
intron_variant | MODIFIER | c.912-1064G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598128 | |||||||
chrX:1598200 | T | TCACAGGG | 6 | a0001c0001t0001g0072 a0001c0010t0003g0104 a0002c0002t0005g0004 others(3): Show |
8 | HG02280.hp1 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.912-990_912-984dup others(7): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 1598200 | ||||||
chrX:1598378 | C | G | 92 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(89): Show |
112 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(109): Show |
intron_variant | MODIFIER | c.912-814C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598378 | |||||||
chrX:1598470 | G | A | 1 | a0001c0001t0001g0086 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.912-722G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598470 | |||||||
chrX:1598480 | C | T | 6 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0004t0001g0025 others(3): Show |
9 | HG00408.hp1 HG01099.hp1 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.912-712C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598480 | |||||||
chrX:1598510 | C | G | 1 | a0001c0001t0001g0045 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.912-682C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598510 | |||||||
chrX:1598634 | T | G | 10 | a0001c0001t0001g0016 a0001c0001t0001g0072 a0001c0010t0003g0104 others(7): Show |
13 | HG02280.hp2 HG02451.hp2 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.912-558T>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598634 | |||||||
chrX:1598654 | C | T | 1 | a0002c0003t0004g0042 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.912-538C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598654 | |||||||
chrX:1598669 | G | C | 1 | a0001c0005t0001g0057 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.912-523G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598669 | |||||||
chrX:1598830 | C | T | 1 | a0001c0005t0001g0020 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.912-362C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598830 | |||||||
chrX:1598906 | C | T | 1 | a0001c0001t0001g0086 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.912-286C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598906 | |||||||
chrX:1598916 | G | C | 1 | a0002c0002t0002g0029 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.912-276G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1598916 | |||||||
chrX:1599000 | G | A | 1 | a0002c0003t0002g0077 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.912-192G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1599000 | |||||||
chrX:1599032 | G | C | 1 | a0002c0002t0002g0026 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.912-160G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1599032 | |||||||
chrX:1599041 | T | G | 22 | a0001c0001t0001g0006 a0001c0001t0001g0079 a0001c0001t0001g0093 others(19): Show |
23 | HG01069.hp1 HG01884.hp2 HG02135.hp1 others(20): Show |
intron_variant | MODIFIER | c.912-151T>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1599041 | |||||||
chrX:1599107 | C | T | 1 | a0001c0005t0001g0055 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.912-85C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1599107 | |||||||
chrX:1599115 | T | G | 94 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(91): Show |
115 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(112): Show |
intron_variant | MODIFIER | c.912-77T>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1599115 | |||||||
chrX:1599156 | C | T | 2 | a0003c0006t0003g0081 a0003c0006t0003g0087 |
2 | HG03688.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.912-36C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1599156 | |||||||
chrX:1599176 | G | A | 1 | a0001c0010t0003g0104 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.912-16G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | 1599176 | |||||||
chrX:1599467 | G | A | 54 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(51): Show |
71 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.1152+35G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1599467 | |||||||
chrX:1599507 | G | A | 7 | a0002c0002t0003g0058 a0002c0003t0001g0044 a0002c0003t0001g0101 others(4): Show |
7 | HG01069.hp1 HG01884.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.1152+75G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1599507 | |||||||
chrX:1599754 | G | A | 51 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(48): Show |
64 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(61): Show |
intron_variant | MODIFIER | c.1152+322G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1599754 | |||||||
chrX:1599780 | T | C | 1 | a0002c0002t0015g0063 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1152+348T>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1599780 | |||||||
chrX:1600056 | G | A | 1 | a0002c0003t0002g0108 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1153-603G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600056 | |||||||
chrX:1600128 | C | G | 1 | a0001c0001t0001g0079 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1153-531C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600128 | |||||||
chrX:1600272 | C | G | 1 | a0001c0004t0010g0062 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1153-387C>G | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600272 | |||||||
chrX:1600272 | C | T | 1 | a0002c0002t0002g0041 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1153-387C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600272 | |||||||
chrX:1600310 | C | T | 1 | a0001c0001t0001g0094 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.1153-349C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600310 | |||||||
chrX:1600332 | G | A | 1 | a0001c0004t0001g0046 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1153-327G>A | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600332 | |||||||
chrX:1600368 | C | T | 1 | a0002c0002t0002g0022 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.1153-291C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600368 | |||||||
chrX:1600465 | C | T | 1 | a0002c0003t0002g0077 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1153-194C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600465 | |||||||
chrX:1600526 | G | C | 1 | a0004c0007t0001g0075 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1153-133G>C | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600526 | |||||||
chrX:1600545 | C | T | 5 | a0002c0003t0002g0013 a0002c0003t0002g0069 a0002c0003t0002g0070 others(2): Show |
6 | HG02559.hp2 HG02809.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.1153-114C>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600545 | |||||||
chrX:1600655 | G | T | 3 | a0002c0002t0003g0058 a0002c0003t0003g0103 a0002c0003t0009g0102 |
3 | HG01069.hp1 HG01884.hp2 HG02630.hp1 |
splice_region_variant&intron_variant | LOW | c.1153-4G>T | AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 4/4 | chrX | 1600655 |