Item | Value |
---|---|
geneid | 1290 |
ensemblid | ENSG00000204262.14 |
hgncid | 2210 |
symbol | COL5A2 |
name | collagen type V alpha 2 chain |
refseq_nuc | NM_000393.5 |
refseq_prot | NP_000384.2 |
ensembl_nuc | ENST00000374866.9 |
ensembl_prot | ENSP00000364000.3 |
mane_status | MANE Select |
chr | chr2 |
start | 189031898 |
end | 189179761 |
strand | - |
ver | v1.2 |
region | chr2:189031898-189179761 |
region5000 | chr2:189026898-189184761 |
regionname0 | COL5A2_chr2_189031898_189179761 |
regionname5000 | COL5A2_chr2_189026898_189184761 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 1499 | 228 | 64 | 31 | 93 | 9 | 29 | 73 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0002 | 0/0 | 1499 | 3 | 0 | 1 | 1 | 0 | 1 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0003 | 0/0 | 1499 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0004 | 0/0 | 1499 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0005 | 0/0 | 1499 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0006 | 0/0 | 1499 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0007 | 0/0 | 1499 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0008 | 0/0 | 1499 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0009 | 0/0 | 1499 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0010 | 0/0 | 1499 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0011 | 0/0 | 1499 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0012 | 0/0 | 1499 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0013 | 0/0 | 1499 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0014 | 0/0 | 1499 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
a0015 | 0/0 | 1499 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | MMANW others(1494): Show |
chr2 | 189026898 | 189184761 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 4497 | 136 | 47 | 16 | 47 | 7 | 18 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0002 | 0/0 | 4497 | 29 | 5 | 2 | 15 | 2 | 5 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0003 | 1/0 | 4497 | 25 | 4 | 10 | 10 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0004 | 0/0 | 4497 | 17 | 3 | 1 | 7 | 0 | 6 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0005 | 0/0 | 4497 | 4 | 0 | 0 | 4 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0007 | 0/0 | 4497 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0008 | 0/0 | 4497 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0010 | 0/0 | 4497 | 2 | 0 | 0 | 2 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0012 | 0/0 | 4497 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0019 | 0/0 | 4497 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0021 | 0/0 | 4497 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0025 | 0/0 | 4497 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0026 | 0/0 | 4497 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0027 | 0/0 | 4497 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0028 | 0/0 | 4497 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0001c0030 | 0/0 | 4497 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0002c0006 | 0/0 | 4497 | 3 | 0 | 1 | 1 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0003c0014 | 0/0 | 4497 | 2 | 0 | 2 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0004c0009 | 0/0 | 4497 | 2 | 0 | 1 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0005c0013 | 0/0 | 4497 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0006c0011 | 0/0 | 4497 | 2 | 0 | 0 | 2 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0007c0020 | 0/0 | 4497 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0008c0016 | 0/0 | 4497 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0009c0023 | 0/0 | 4497 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0010c0024 | 0/0 | 4497 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0011c0018 | 0/0 | 4497 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0012c0029 | 0/0 | 4497 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0013c0015 | 0/0 | 4497 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0014c0022 | 0/0 | 4497 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 | ||
a0015c0017 | 0/0 | 4497 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | ATGAT others(4492): Show |
chr2 | 189026898 | 189184761 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 6829 | 94 | 32 | 11 | 31 | 6 | 13 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0001t0003 | 0/0 | 6829 | 26 | 7 | 4 | 14 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0001t0004 | 0/0 | 6829 | 6 | 3 | 1 | 0 | 1 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0001t0007 | 0/0 | 6830 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6825): Show |
chr2 | 189026898 | 189184761 |
a0001c0001t0008 | 0/0 | 6829 | 3 | 1 | 0 | 0 | 0 | 2 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0001t0013 | 0/0 | 6829 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0001t0022 | 0/0 | 6829 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0001t0023 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0001t0024 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0001t0025 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0002t0002 | 0/0 | 6829 | 23 | 0 | 2 | 14 | 2 | 5 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0002t0009 | 0/0 | 6829 | 3 | 3 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0002t0014 | 0/0 | 6827 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6822): Show |
chr2 | 189026898 | 189184761 |
a0001c0002t0020 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0003t0001 | 1/0 | 6829 | 23 | 4 | 8 | 10 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0003t0011 | 0/0 | 6829 | 2 | 0 | 2 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0004t0001 | 0/0 | 6829 | 13 | 1 | 1 | 6 | 0 | 5 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0004t0006 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0004t0007 | 0/0 | 6830 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6825): Show |
chr2 | 189026898 | 189184761 |
a0001c0004t0018 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0004t0021 | 0/0 | 6829 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0005t0002 | 0/0 | 6829 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0005t0019 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0007t0005 | 0/0 | 6830 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6825): Show |
chr2 | 189026898 | 189184761 |
a0001c0008t0001 | 0/0 | 6829 | 3 | 0 | 0 | 3 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0010t0001 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0010t0007 | 0/0 | 6830 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6825): Show |
chr2 | 189026898 | 189184761 |
a0001c0012t0010 | 0/0 | 6827 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6822): Show |
chr2 | 189026898 | 189184761 |
a0001c0019t0001 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0021t0002 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0025t0001 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0026t0015 | 0/0 | 6827 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6822): Show |
chr2 | 189026898 | 189184761 |
a0001c0027t0001 | 0/0 | 6829 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0028t0012 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0001c0030t0016 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0002c0006t0005 | 0/0 | 6830 | 2 | 0 | 1 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6825): Show |
chr2 | 189026898 | 189184761 |
a0002c0006t0017 | 0/0 | 6830 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6825): Show |
chr2 | 189026898 | 189184761 |
a0003c0014t0001 | 0/0 | 6829 | 2 | 0 | 2 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0004c0009t0001 | 0/0 | 6829 | 2 | 0 | 1 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0005c0013t0001 | 0/0 | 6829 | 2 | 2 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0006c0011t0001 | 0/0 | 6829 | 2 | 0 | 0 | 2 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0007c0020t0001 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0008c0016t0006 | 0/0 | 6829 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0009c0023t0004 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0010c0024t0004 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0011c0018t0012 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0012c0029t0001 | 0/0 | 6829 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0013c0015t0001 | 0/0 | 6829 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0014c0022t0002 | 0/0 | 6829 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
a0015c0017t0006 | 0/0 | 6829 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | GCAGA others(6824): Show |
chr2 | 189026898 | 189184761 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0025 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0001g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0003g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0004g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0004g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0004g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0004g0149 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0004g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0004g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0007g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0008g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0008g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0008g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0013g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0013g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0022g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0023g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0024g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0001t0025g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0029 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0037 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0002g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0009g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0009g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0009g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0014g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0014g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0002t0020g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0154 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0001g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0011g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0003t0011g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0002 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0001g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0006g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0007g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0018g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0004t0021g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0005t0002g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0005t0002g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0005t0002g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0005t0019g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0007t0005g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0007t0005g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0007t0005g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0008t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0008t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0008t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0010t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0010t0007g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0012t0010g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0012t0010g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0019t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0021t0002g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0025t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0026t0015g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0027t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0028t0012g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0001c0030t0016g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0002c0006t0005g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0002c0006t0005g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0002c0006t0017g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0003c0014t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0003c0014t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0004c0009t0001g0019 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0004c0009t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0005c0013t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0005c0013t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0006c0011t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0006c0011t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0007c0020t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0008c0016t0006g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0009c0023t0004g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0010c0024t0004g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0011c0018t0012g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0012c0029t0001g0235 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0013c0015t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0014c0022t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
a0015c0017t0006g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0018 | EUR | GBR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0099 | EUR | GBR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00280 | hp1 | a0001 | c0001 | t0004 | g0149 | EUR | FIN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0096 | EUR | FIN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00408 | hp1 | a0001 | c0001 | t0003 | g0227 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00408 | hp2 | a0007 | c0020 | t0001 | g0123 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00423 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00423 | hp2 | a0001 | c0005 | t0019 | g0172 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00597 | hp1 | a0001 | c0002 | t0002 | g0036 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0097 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00609 | hp2 | a0001 | c0005 | t0002 | g0173 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | CHS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01069 | hp1 | a0001 | c0026 | t0015 | g0003 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0121 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01081 | hp1 | a0003 | c0014 | t0001 | g0039 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01081 | hp2 | a0008 | c0016 | t0006 | g0130 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01106 | hp1 | a0001 | c0003 | t0011 | g0168 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01106 | hp2 | a0001 | c0002 | t0002 | g0016 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0098 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01167 | hp2 | a0001 | c0003 | t0001 | g0234 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01169 | hp1 | a0003 | c0014 | t0001 | g0120 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01169 | hp2 | a0001 | c0003 | t0001 | g0198 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0062 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01192 | hp2 | a0002 | c0006 | t0005 | g0131 | AMR | PUR | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01255 | hp1 | a0001 | c0003 | t0001 | g0150 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01255 | hp2 | a0001 | c0001 | t0001 | g0119 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01257 | hp1 | a0001 | c0001 | t0003 | g0128 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01257 | hp2 | a0001 | c0003 | t0001 | g0195 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01258 | hp2 | a0001 | c0001 | t0003 | g0127 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01261 | hp1 | a0001 | c0003 | t0001 | g0197 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0066 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01358 | hp1 | a0001 | c0003 | t0011 | g0167 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01358 | hp2 | a0001 | c0001 | t0001 | g0103 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01433 | hp1 | a0001 | c0004 | t0001 | g0219 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01433 | hp2 | a0004 | c0009 | t0001 | g0027 | AMR | CLM | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01516 | hp1 | a0001 | c0002 | t0002 | g0037 | EUR | IBS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0083 | EUR | IBS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01517 | hp1 | a0001 | c0002 | t0002 | g0029 | EUR | IBS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01517 | hp2 | a0001 | c0001 | t0001 | g0107 | EUR | IBS | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01884 | hp1 | a0001 | c0001 | t0001 | g0157 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01884 | hp2 | a0001 | c0004 | t0018 | g0129 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01943 | hp1 | a0001 | c0003 | t0001 | g0207 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01943 | hp2 | a0001 | c0001 | t0003 | g0045 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01975 | hp1 | a0001 | c0001 | t0004 | g0221 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01975 | hp2 | a0001 | c0001 | t0001 | g0093 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01978 | hp1 | a0001 | c0001 | t0003 | g0135 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0055 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01981 | hp1 | a0001 | c0003 | t0001 | g0202 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0133 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02055 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02055 | hp2 | a0001 | c0003 | t0001 | g0223 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02056 | hp1 | a0001 | c0004 | t0001 | g0175 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0080 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02074 | hp1 | a0001 | c0001 | t0007 | g0054 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02074 | hp2 | a0001 | c0004 | t0001 | g0176 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02135 | hp1 | a0001 | c0001 | t0003 | g0231 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0162 | EAS | KHV | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02145 | hp1 | a0001 | c0001 | t0001 | g0230 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02145 | hp2 | a0001 | c0001 | t0001 | g0052 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02165 | hp1 | a0001 | c0001 | t0003 | g0177 | EAS | CDX | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | CDX | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0068 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02258 | hp2 | a0009 | c0023 | t0004 | g0051 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0044 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02273 | hp2 | a0001 | c0003 | t0001 | g0196 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02280 | hp2 | a0001 | c0001 | t0003 | g0165 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02293 | hp1 | a0001 | c0002 | t0002 | g0048 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02293 | hp2 | a0001 | c0027 | t0001 | g0194 | AMR | PEL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02451 | hp1 | a0001 | c0003 | t0001 | g0186 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02451 | hp2 | a0010 | c0024 | t0004 | g0063 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0065 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02622 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02630 | hp1 | a0001 | c0001 | t0004 | g0005 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02630 | hp2 | a0011 | c0018 | t0012 | g0148 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0111 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02683 | hp2 | a0012 | c0029 | t0001 | g0235 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02717 | hp1 | a0005 | c0013 | t0001 | g0114 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02717 | hp2 | a0001 | c0003 | t0001 | g0188 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02723 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0191 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02735 | hp1 | a0001 | c0001 | t0004 | g0192 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0110 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02809 | hp1 | a0001 | c0001 | t0001 | g0061 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02809 | hp2 | a0001 | c0001 | t0004 | g0043 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02818 | hp1 | a0001 | c0028 | t0012 | g0151 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0060 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02895 | hp1 | a0001 | c0012 | t0010 | g0040 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02895 | hp2 | a0001 | c0001 | t0001 | g0155 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02897 | hp1 | a0001 | c0012 | t0010 | g0126 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02897 | hp2 | a0001 | c0001 | t0004 | g0079 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02922 | hp1 | a0001 | c0001 | t0001 | g0189 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02922 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02965 | hp1 | a0005 | c0013 | t0001 | g0115 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02965 | hp2 | a0001 | c0001 | t0003 | g0184 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03041 | hp1 | a0001 | c0004 | t0001 | g0053 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03041 | hp2 | a0001 | c0025 | t0001 | g0125 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03098 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03098 | hp2 | a0001 | c0001 | t0003 | g0224 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03139 | hp1 | a0001 | c0001 | t0013 | g0011 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03139 | hp2 | a0001 | c0001 | t0025 | g0243 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03195 | hp1 | a0001 | c0002 | t0009 | g0143 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03195 | hp2 | a0001 | c0001 | t0001 | g0156 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03225 | hp1 | a0001 | c0001 | t0003 | g0226 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03225 | hp2 | a0001 | c0004 | t0006 | g0153 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03453 | hp1 | a0001 | c0001 | t0001 | g0147 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03453 | hp2 | a0001 | c0003 | t0001 | g0187 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03486 | hp1 | a0001 | c0001 | t0001 | g0159 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03486 | hp2 | a0001 | c0001 | t0024 | g0241 | AFR | MSL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03490 | hp1 | a0001 | c0004 | t0001 | g0002 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0014 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03492 | hp1 | a0001 | c0001 | t0001 | g0041 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03492 | hp2 | a0001 | c0004 | t0001 | g0002 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03516 | hp1 | a0001 | c0002 | t0009 | g0161 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0190 | AFR | ESN | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03540 | hp1 | a0001 | c0002 | t0009 | g0160 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03540 | hp2 | a0001 | c0001 | t0001 | g0067 | AFR | GWD | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03654 | hp1 | a0001 | c0002 | t0002 | g0028 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03654 | hp2 | a0001 | c0001 | t0001 | g0106 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03669 | hp1 | a0001 | c0001 | t0001 | g0105 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03669 | hp2 | a0001 | c0004 | t0021 | g0134 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03688 | hp1 | a0001 | c0002 | t0002 | g0238 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0085 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03704 | hp1 | a0001 | c0002 | t0002 | g0237 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03704 | hp2 | a0001 | c0001 | t0001 | g0049 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03710 | hp1 | a0001 | c0004 | t0001 | g0164 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03710 | hp2 | a0001 | c0002 | t0002 | g0026 | SAS | PJL | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03831 | hp1 | a0001 | c0001 | t0008 | g0240 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0056 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03834 | hp1 | a0001 | c0002 | t0002 | g0090 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0137 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03942 | hp1 | a0001 | c0004 | t0001 | g0212 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG03942 | hp2 | a0001 | c0001 | t0022 | g0084 | SAS | BEB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG04199 | hp1 | a0002 | c0006 | t0017 | g0136 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG04199 | hp2 | a0013 | c0015 | t0001 | g0108 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG04204 | hp1 | a0001 | c0004 | t0001 | g0169 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG04204 | hp2 | a0001 | c0001 | t0001 | g0032 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG04228 | hp1 | a0001 | c0001 | t0003 | g0185 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0095 | SAS | STU | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18522 | hp1 | a0001 | c0001 | t0008 | g0220 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18522 | hp2 | a0001 | c0002 | t0014 | g0244 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | CHB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18612 | hp2 | a0014 | c0022 | t0002 | g0035 | EAS | CHB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18747 | hp1 | a0001 | c0010 | t0001 | g0101 | EAS | CHB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18747 | hp2 | a0001 | c0002 | t0002 | g0033 | EAS | CHB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18906 | hp1 | a0001 | c0001 | t0001 | g0146 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18906 | hp2 | a0001 | c0001 | t0001 | g0158 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18940 | hp1 | a0001 | c0010 | t0007 | g0074 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18940 | hp2 | a0001 | c0003 | t0001 | g0174 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18941 | hp1 | a0001 | c0004 | t0001 | g0211 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18941 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18942 | hp1 | a0001 | c0001 | t0003 | g0210 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18942 | hp2 | a0001 | c0002 | t0002 | g0140 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18945 | hp1 | a0001 | c0001 | t0003 | g0178 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18945 | hp2 | a0001 | c0019 | t0001 | g0070 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18947 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18947 | hp2 | a0001 | c0005 | t0002 | g0171 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18950 | hp1 | a0001 | c0002 | t0002 | g0058 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18950 | hp2 | a0001 | c0001 | t0003 | g0181 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18951 | hp1 | a0001 | c0001 | t0003 | g0182 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18953 | hp1 | a0001 | c0001 | t0003 | g0222 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18953 | hp2 | a0001 | c0003 | t0001 | g0206 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18960 | hp1 | a0001 | c0002 | t0002 | g0021 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18960 | hp2 | a0001 | c0008 | t0001 | g0214 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18961 | hp2 | a0001 | c0004 | t0007 | g0216 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18962 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18962 | hp2 | a0001 | c0001 | t0003 | g0209 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18965 | hp1 | a0001 | c0005 | t0002 | g0229 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18965 | hp2 | a0001 | c0002 | t0002 | g0020 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18969 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18972 | hp1 | a0001 | c0004 | t0001 | g0170 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18972 | hp2 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18973 | hp1 | a0001 | c0001 | t0003 | g0179 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18973 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18975 | hp1 | a0001 | c0003 | t0001 | g0205 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18975 | hp2 | a0006 | c0011 | t0001 | g0075 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18977 | hp1 | a0001 | c0007 | t0005 | g0006 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18977 | hp2 | a0001 | c0004 | t0001 | g0218 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18978 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18978 | hp2 | a0001 | c0003 | t0001 | g0163 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18979 | hp1 | a0001 | c0002 | t0002 | g0031 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18979 | hp2 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18983 | hp1 | a0001 | c0002 | t0002 | g0022 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18983 | hp2 | a0001 | c0003 | t0001 | g0203 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18984 | hp1 | a0001 | c0002 | t0002 | g0138 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18984 | hp2 | a0001 | c0003 | t0001 | g0204 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18992 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18992 | hp2 | a0001 | c0002 | t0002 | g0057 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18995 | hp1 | a0001 | c0003 | t0001 | g0193 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18995 | hp2 | a0001 | c0001 | t0003 | g0228 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18998 | hp1 | a0001 | c0003 | t0001 | g0200 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19001 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19001 | hp2 | a0001 | c0001 | t0003 | g0232 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19002 | hp1 | a0001 | c0001 | t0003 | g0180 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19002 | hp2 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19003 | hp2 | a0001 | c0004 | t0001 | g0217 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19006 | hp1 | a0001 | c0007 | t0005 | g0008 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19006 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19007 | hp1 | a0001 | c0002 | t0002 | g0141 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19007 | hp2 | a0001 | c0007 | t0005 | g0007 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19010 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19010 | hp2 | a0001 | c0008 | t0001 | g0213 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0144 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19030 | hp2 | a0001 | c0030 | t0016 | g0017 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19043 | hp1 | a0001 | c0001 | t0013 | g0145 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19043 | hp2 | a0001 | c0001 | t0001 | g0012 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19057 | hp1 | a0001 | c0002 | t0002 | g0024 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19057 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19062 | hp1 | a0001 | c0008 | t0001 | g0215 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19062 | hp2 | a0001 | c0021 | t0002 | g0142 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19065 | hp1 | a0002 | c0006 | t0005 | g0132 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19065 | hp2 | a0001 | c0003 | t0001 | g0201 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19070 | hp1 | a0001 | c0002 | t0002 | g0139 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19070 | hp2 | a0001 | c0003 | t0001 | g0199 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19076 | hp1 | a0006 | c0011 | t0001 | g0078 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19076 | hp2 | a0001 | c0001 | t0003 | g0183 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19084 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19084 | hp2 | a0001 | c0002 | t0002 | g0023 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19088 | hp2 | a0001 | c0001 | t0023 | g0009 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19091 | hp2 | a0001 | c0002 | t0020 | g0038 | EAS | JPT | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19240 | hp1 | a0001 | c0001 | t0003 | g0152 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA19240 | hp2 | a0001 | c0001 | t0001 | g0117 | AFR | YRI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA20129 | hp1 | a0001 | c0001 | t0001 | g0233 | AFR | ASW | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0013 | EUR | TSI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA20752 | hp2 | a0004 | c0009 | t0001 | g0019 | EUR | TSI | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA20905 | hp1 | a0001 | c0001 | t0008 | g0236 | SAS | GIH | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0104 | SAS | GIH | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02109 | hp1 | a0001 | c0001 | t0003 | g0225 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0064 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG02486 | hp2 | a0001 | c0002 | t0014 | g0242 | AFR | ACB | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0124 | AFR | USA | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
HG06807 | hp2 | a0001 | c0001 | t0001 | g0239 | AFR | USA | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA21309 | hp1 | a0001 | c0001 | t0003 | g0166 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
NA21309 | hp2 | a0015 | c0017 | t0006 | g0034 | AFR | LWK | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0025 | REF | REF | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
homoSapiens | grch38p0 | a0001 | c0003 | t0001 | g0154 | REF | REF | COL5A2_chr2_189026898_189184761 | COL5A2 | chr2 | 189026898 | 189184761 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:189039341 | C | T | 1 | a0015 | 1 | NA21309.hp2 | missense_variant | MODERATE | c.3856G>A | p.Asp1286Asn | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 4013/6829 | 3856/4500 | 1286/1499 | chr2 | 189039341 | |||
chr2:189039371 | T | C | 1 | a0011 | 1 | HG02630.hp2 | missense_variant | MODERATE | c.3826A>G | p.Ser1276Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 3983/6829 | 3826/4500 | 1276/1499 | chr2 | 189039371 | |||
chr2:189039508 | G | C | 1 | a0004 | 2 | HG01433.hp2 NA20752.hp2 |
missense_variant | MODERATE | c.3689C>G | p.Thr1230Arg | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 3846/6829 | 3689/4500 | 1230/1499 | chr2 | 189039508 | |||
chr2:189043156 | G | A | 1 | a0007 | 1 | HG00408.hp2 | missense_variant | MODERATE | c.3466C>T | p.Pro1156Ser | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/54 | 3623/6829 | 3466/4500 | 1156/1499 | chr2 | 189043156 | |||
chr2:189045226 | G | A | 1 | a0010 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.3316C>T | p.Arg1106Trp | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/54 | 3473/6829 | 3316/4500 | 1106/1499 | chr2 | 189045226 | |||
chr2:189049396 | G | A | 1 | a0006 | 2 | NA18975.hp2 NA19076.hp1 |
missense_variant | MODERATE | c.3098C>T | p.Pro1033Leu | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/54 | 3255/6829 | 3098/4500 | 1033/1499 | chr2 | 189049396 | |||
chr2:189049403 | G | A | 1 | a0014 | 1 | NA18612.hp2 | missense_variant | MODERATE | c.3091C>T | p.Pro1031Ser | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/54 | 3248/6829 | 3091/4500 | 1031/1499 | chr2 | 189049403 | |||
chr2:189050645 | G | A | 1 | a0009 | 1 | HG02258.hp2 | missense_variant | MODERATE | c.2963C>T | p.Thr988Met | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/54 | 3120/6829 | 2963/4500 | 988/1499 | chr2 | 189050645 | |||
chr2:189053896 | G | A | 1 | a0002 | 3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
missense_variant&splice_region_variant | MODERATE | c.2498C>T | p.Pro833Leu | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/54 | 2655/6829 | 2498/4500 | 833/1499 | chr2 | 189053896 | |||
chr2:189057394 | T | G | 1 | a0010 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.2263A>C | p.Thr755Pro | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/54 | 2420/6829 | 2263/4500 | 755/1499 | chr2 | 189057394 | |||
chr2:189066418 | A | G | 2 | a0002 a0008 |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
missense_variant | MODERATE | c.1535T>C | p.Val512Ala | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/54 | 1692/6829 | 1535/4500 | 512/1499 | chr2 | 189066418 | |||
chr2:189068016 | G | A | 1 | a0005 | 2 | HG02717.hp1 HG02965.hp1 |
missense_variant&splice_region_variant | MODERATE | c.1400C>T | p.Pro467Leu | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/54 | 1557/6829 | 1400/4500 | 467/1499 | chr2 | 189068016 | |||
chr2:189068065 | A | G | 1 | a0012 | 1 | HG02683.hp2 | missense_variant | MODERATE | c.1351T>C | p.Ser451Pro | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/54 | 1508/6829 | 1351/4500 | 451/1499 | chr2 | 189068065 | |||
chr2:189068227 | G | A | 1 | a0013 | 1 | HG04199.hp2 | missense_variant&splice_region_variant | MODERATE | c.1301C>T | p.Thr434Met | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 20/54 | 1458/6829 | 1301/4500 | 434/1499 | chr2 | 189068227 | |||
chr2:189075416 | T | G | 1 | a0003 | 2 | HG01081.hp1 HG01169.hp1 |
missense_variant | MODERATE | c.1081A>C | p.Met361Leu | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/54 | 1238/6829 | 1081/4500 | 361/1499 | chr2 | 189075416 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:189034121 | G | A | 2 | a0001c0007 a0002c0006 |
6 | HG01192.hp2 HG04199.hp1 NA18977.hp1 others(3): Show |
synonymous_variant | LOW | c.4449C>T | p.Gly1483Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 4606/6829 | 4449/4500 | 1483/1499 | chr2 | 189034121 | |||
chr2:189039477 | A | G | 6 | a0001c0002 a0001c0005 a0001c0012 others(3): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
synonymous_variant | LOW | c.3720T>C | p.Tyr1240Tyr | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 3877/6829 | 3720/4500 | 1240/1499 | chr2 | 189039477 | |||
chr2:189039507 | T | G | 7 | a0001c0002 a0001c0005 a0001c0012 others(4): Show |
39 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(36): Show |
synonymous_variant | LOW | c.3690A>C | p.Thr1230Thr | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/54 | 3847/6829 | 3690/4500 | 1230/1499 | chr2 | 189039507 | |||
chr2:189043211 | A | G | 26 | a0001c0001 a0001c0002 a0001c0004 others(23): Show |
218 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(215): Show |
synonymous_variant | LOW | c.3411T>C | p.Gly1137Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/54 | 3568/6829 | 3411/4500 | 1137/1499 | chr2 | 189043211 | |||
chr2:189045821 | A | G | 1 | a0001c0027 | 1 | HG02293.hp2 | synonymous_variant | LOW | c.3288T>C | p.Asp1096Asp | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/54 | 3445/6829 | 3288/4500 | 1096/1499 | chr2 | 189045821 | |||
chr2:189050620 | G | A | 1 | a0001c0008 | 3 | NA18960.hp2 NA19010.hp2 NA19062.hp1 |
synonymous_variant | LOW | c.2988C>T | p.Gly996Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/54 | 3145/6829 | 2988/4500 | 996/1499 | chr2 | 189050620 | |||
chr2:189051464 | C | T | 1 | a0001c0012 | 2 | HG02895.hp1 HG02897.hp1 |
synonymous_variant | LOW | c.2787G>A | p.Ala929Ala | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/54 | 2944/6829 | 2787/4500 | 929/1499 | chr2 | 189051464 | |||
chr2:189056988 | T | G | 1 | a0001c0012 | 2 | HG02895.hp1 HG02897.hp1 |
synonymous_variant | LOW | c.2376A>C | p.Gly792Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/54 | 2533/6829 | 2376/4500 | 792/1499 | chr2 | 189056988 | |||
chr2:189066429 | G | A | 1 | a0001c0025 | 1 | HG03041.hp2 | synonymous_variant | LOW | c.1524C>T | p.Asp508Asp | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/54 | 1681/6829 | 1524/4500 | 508/1499 | chr2 | 189066429 | |||
chr2:189068105 | T | C | 27 | a0001c0001 a0001c0002 a0001c0004 others(24): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
synonymous_variant | LOW | c.1311A>G | p.Pro437Pro | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/54 | 1468/6829 | 1311/4500 | 437/1499 | chr2 | 189068105 | |||
chr2:189078540 | C | G | 1 | a0001c0005 | 4 | HG00423.hp2 HG00609.hp2 NA18947.hp2 others(1): Show |
synonymous_variant | LOW | c.1035G>C | p.Gly345Gly | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/54 | 1192/6829 | 1035/4500 | 345/1499 | chr2 | 189078540 | |||
chr2:189079093 | G | A | 1 | a0001c0026 | 1 | HG01069.hp1 | synonymous_variant | LOW | c.975C>T | p.Pro325Pro | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/54 | 1132/6829 | 975/4500 | 325/1499 | chr2 | 189079093 | |||
chr2:189110232 | G | T | 24 | a0001c0001 a0001c0002 a0001c0005 others(21): Show |
199 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
synonymous_variant | LOW | c.315C>A | p.Thr105Thr | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/54 | 472/6829 | 315/4500 | 105/1499 | chr2 | 189110232 | |||
chr2:189110286 | C | T | 1 | a0013c0015 | 1 | HG04199.hp2 | synonymous_variant | LOW | c.261G>A | p.Thr87Thr | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/54 | 418/6829 | 261/4500 | 87/1499 | chr2 | 189110286 | |||
chr2:189110298 | G | A | 1 | a0001c0030 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.249C>T | p.Ala83Ala | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/54 | 406/6829 | 249/4500 | 83/1499 | chr2 | 189110298 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:189031939 | A | T | 3 | a0001c0001t0004 a0009c0023t0004 a0010c0024t0004 |
8 | HG00280.hp1 HG01975.hp1 HG02258.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2131T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 2131 | chr2 | 189031939 | ||||||
chr2:189031941 | T | A | 1 | a0001c0001t0022 | 1 | HG03942.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2129A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 2129 | chr2 | 189031941 | ||||||
chr2:189032008 | C | T | 3 | a0001c0002t0014 a0001c0012t0010 a0001c0026t0015 |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2062G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 2062 | chr2 | 189032008 | ||||||
chr2:189032110 | T | C | 3 | a0001c0002t0014 a0001c0012t0010 a0001c0026t0015 |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1960A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1960 | chr2 | 189032110 | ||||||
chr2:189032166 | G | A | 3 | a0001c0002t0014 a0001c0012t0010 a0001c0026t0015 |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1904C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1904 | chr2 | 189032166 | ||||||
chr2:189032218 | A | G | 2 | a0001c0001t0008 a0001c0001t0025 |
4 | HG03139.hp2 HG03831.hp1 NA18522.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1852T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1852 | chr2 | 189032218 | ||||||
chr2:189032323 | G | T | 1 | a0001c0002t0020 | 1 | NA19091.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1747C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1747 | chr2 | 189032323 | ||||||
chr2:189032401 | C | T | 3 | a0001c0002t0014 a0001c0012t0010 a0001c0026t0015 |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1669G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1669 | chr2 | 189032401 | ||||||
chr2:189032459 | T | C | 1 | a0001c0001t0023 | 1 | NA19088.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1611A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1611 | chr2 | 189032459 | ||||||
chr2:189032504 | C | A | 1 | a0002c0006t0017 | 1 | HG04199.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1566G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1566 | chr2 | 189032504 | ||||||
chr2:189032533 | A | G | 1 | a0001c0005t0019 | 1 | HG00423.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1537T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1537 | chr2 | 189032533 | ||||||
chr2:189032653 | T | G | 1 | a0001c0004t0018 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1417A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1417 | chr2 | 189032653 | ||||||
chr2:189032668 | A | C | 10 | a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 others(7): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
3_prime_UTR_variant | MODIFIER | c.*1402T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1402 | chr2 | 189032668 | ||||||
chr2:189032670 | T | C | 3 | a0001c0007t0005 a0002c0006t0005 a0002c0006t0017 |
6 | HG01192.hp2 HG04199.hp1 NA18977.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1400A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1400 | chr2 | 189032670 | ||||||
chr2:189032691 | T | C | 2 | a0001c0028t0012 a0011c0018t0012 |
2 | HG02630.hp2 HG02818.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1379A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1379 | chr2 | 189032691 | ||||||
chr2:189032772 | C | A | 1 | a0001c0012t0010 | 2 | HG02895.hp1 HG02897.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1298G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1298 | chr2 | 189032772 | ||||||
chr2:189032778 | T | C | 1 | a0001c0001t0024 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1292A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1292 | chr2 | 189032778 | ||||||
chr2:189032905 | C | T | 4 | a0001c0001t0003 a0001c0001t0008 a0001c0001t0024 others(1): Show |
31 | HG00408.hp1 HG01257.hp1 HG01258.hp2 others(28): Show |
3_prime_UTR_variant | MODIFIER | c.*1165G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1165 | chr2 | 189032905 | ||||||
chr2:189032994 | C | T | 1 | a0001c0003t0011 | 2 | HG01106.hp1 HG01358.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1076G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 1076 | chr2 | 189032994 | ||||||
chr2:189033258 | T | C | 1 | a0001c0001t0024 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*812A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 812 | chr2 | 189033258 | ||||||
chr2:189033431 | C | T | 11 | a0001c0001t0004 a0001c0004t0006 a0001c0004t0018 others(8): Show |
19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*639G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 639 | chr2 | 189033431 | ||||||
chr2:189033479 | G | GT | 6 | a0001c0001t0007 a0001c0004t0007 a0001c0007t0005 others(3): Show |
9 | HG01192.hp2 HG02074.hp1 HG04199.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*590dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 590 | chr2 | 189033479 | ||||||
chr2:189033479 | GTT | G | 3 | a0001c0002t0014 a0001c0012t0010 a0001c0026t0015 |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*589_*590delAA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 589 | chr2 | 189033479 | ||||||
chr2:189033509 | A | G | 1 | a0001c0004t0021 | 1 | HG03669.hp2 | 3_prime_UTR_variant | MODIFIER | c.*561T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 561 | chr2 | 189033509 | ||||||
chr2:189033545 | T | C | 1 | a0001c0002t0009 | 3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*525A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 525 | chr2 | 189033545 | ||||||
chr2:189033555 | G | A | 3 | a0001c0002t0014 a0001c0012t0010 a0001c0026t0015 |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*515C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 515 | chr2 | 189033555 | ||||||
chr2:189033594 | A | G | 1 | a0001c0030t0016 | 1 | NA19030.hp2 | 3_prime_UTR_variant | MODIFIER | c.*476T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 476 | chr2 | 189033594 | ||||||
chr2:189033647 | G | A | 3 | a0001c0002t0014 a0001c0012t0010 a0001c0026t0015 |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*423C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 423 | chr2 | 189033647 | ||||||
chr2:189033666 | T | C | 1 | a0001c0012t0010 | 2 | HG02895.hp1 HG02897.hp1 |
3_prime_UTR_variant | MODIFIER | c.*404A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 404 | chr2 | 189033666 | ||||||
chr2:189033678 | A | G | 6 | a0001c0002t0002 a0001c0002t0020 a0001c0005t0002 others(3): Show |
30 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*392T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 392 | chr2 | 189033678 | ||||||
chr2:189033679 | T | C | 1 | a0001c0001t0013 | 2 | HG03139.hp1 NA19043.hp1 |
3_prime_UTR_variant | MODIFIER | c.*391A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 391 | chr2 | 189033679 | ||||||
chr2:189033772 | C | T | 14 | a0001c0001t0004 a0001c0002t0014 a0001c0004t0006 others(11): Show |
24 | HG00280.hp1 HG01069.hp1 HG01081.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*298G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 298 | chr2 | 189033772 | ||||||
chr2:189034024 | G | T | 3 | a0001c0002t0014 a0001c0012t0010 a0001c0026t0015 |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*46C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 54/54 | 46 | chr2 | 189034024 | ||||||
chr2:189179638 | G | A | 2 | a0001c0001t0025 a0001c0002t0014 |
3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
5_prime_UTR_variant | MODIFIER | c.-34C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/54 | 34 | chr2 | 189179638 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:189034353 | A | G | 9 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 others(6): Show |
9 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(6): Show |
intron_variant | MODIFIER | c.4354-137T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034353 | |||||||
chr2:189034391 | C | G | 5 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0012t0010g0040 others(2): Show |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4354-175G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034391 | |||||||
chr2:189034516 | T | A | 5 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0012t0010g0040 others(2): Show |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4354-300A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034516 | |||||||
chr2:189034547 | GACTT | G | 5 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0012t0010g0040 others(2): Show |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4354-335_4354-332d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034547 | |||||||
chr2:189034612 | G | A | 5 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0012t0010g0040 others(2): Show |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.4353+304C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034612 | |||||||
chr2:189034706 | C | A | 2 | a0004c0009t0001g0019 a0004c0009t0001g0027 |
2 | HG01433.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.4353+210G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034706 | |||||||
chr2:189034815 | T | C | 168 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(165): Show |
171 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(168): Show |
intron_variant | MODIFIER | c.4353+101A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034815 | |||||||
chr2:189034846 | T | C | 168 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(165): Show |
171 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(168): Show |
intron_variant | MODIFIER | c.4353+70A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034846 | |||||||
chr2:189034847 | G | A | 7 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0002t0014g0242 others(4): Show |
7 | HG01069.hp1 HG01884.hp1 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.4353+69C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 53/53 | chr2 | 189034847 | |||||||
chr2:189035367 | C | T | 100 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(97): Show |
100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.4114-212G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035367 | |||||||
chr2:189035475 | TATAATAA others(20): Show |
T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.4114-347_4114-321d others(29): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035475 | |||||||
chr2:189035567 | T | C | 19 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(16): Show |
19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.4114-412A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035567 | |||||||
chr2:189035575 | A | AAAAT | 39 | a0001c0001t0001g0064 a0001c0002t0002g0016 a0001c0002t0002g0020 others(36): Show |
39 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(36): Show |
intron_variant | MODIFIER | c.4114-424_4114-421d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035575 | |||||||
chr2:189035798 | C | T | 19 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(16): Show |
19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.4114-643G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035798 | |||||||
chr2:189035857 | A | G | 2 | a0001c0028t0012g0151 a0011c0018t0012g0148 |
2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.4114-702T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035857 | |||||||
chr2:189035896 | C | A | 3 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0026t0015g0003 |
3 | HG01069.hp1 HG02486.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.4113+720G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189035896 | |||||||
chr2:189036215 | G | T | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.4113+401C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036215 | |||||||
chr2:189036334 | C | T | 101 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(98): Show |
101 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.4113+282G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036334 | |||||||
chr2:189036393 | C | A | 57 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(54): Show |
57 | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.4113+223G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036393 | |||||||
chr2:189036525 | TA | T | 19 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(16): Show |
19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.4113+90delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036525 | |||||||
chr2:189036569 | G | A | 100 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(97): Show |
100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.4113+47C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 52/53 | chr2 | 189036569 | |||||||
chr2:189036942 | A | G | 4 | a0001c0001t0001g0064 a0001c0002t0014g0242 a0001c0002t0014g0244 others(1): Show |
4 | HG01069.hp1 HG02486.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3926-139T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189036942 | |||||||
chr2:189036952 | G | A | 4 | a0001c0001t0003g0152 a0001c0001t0003g0224 a0001c0001t0003g0225 others(1): Show |
4 | HG02109.hp1 HG03098.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.3926-149C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189036952 | |||||||
chr2:189037019 | A | C | 39 | a0001c0001t0001g0064 a0001c0002t0002g0016 a0001c0002t0002g0020 others(36): Show |
39 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(36): Show |
intron_variant | MODIFIER | c.3926-216T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037019 | |||||||
chr2:189037027 | A | T | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3926-224T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037027 | |||||||
chr2:189037101 | T | C | 1 | a0001c0001t0001g0146 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3926-298A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037101 | |||||||
chr2:189037109 | G | A | 1 | a0001c0007t0005g0007 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.3926-306C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037109 | |||||||
chr2:189037306 | C | T | 5 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0012t0010g0040 others(2): Show |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3926-503G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037306 | |||||||
chr2:189037464 | G | A | 77 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 others(74): Show |
77 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(74): Show |
intron_variant | MODIFIER | c.3926-661C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037464 | |||||||
chr2:189037691 | T | A | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.3926-888A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037691 | |||||||
chr2:189037953 | G | T | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3926-1150C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189037953 | |||||||
chr2:189038136 | T | TA | 38 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(35): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+1135dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038136 | |||||||
chr2:189038386 | G | A | 22 | a0001c0001t0003g0045 a0001c0001t0003g0127 a0001c0001t0003g0128 others(19): Show |
22 | HG00408.hp1 HG01257.hp1 HG01258.hp2 others(19): Show |
intron_variant | MODIFIER | c.3925+886C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038386 | |||||||
chr2:189038537 | G | C | 38 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(35): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+735C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038537 | |||||||
chr2:189038635 | C | T | 38 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(35): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+637G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038635 | |||||||
chr2:189038689 | T | C | 102 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(99): Show |
102 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.3925+583A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038689 | |||||||
chr2:189038690 | C | CTGT | 38 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(35): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+579_3925+581d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038690 | |||||||
chr2:189038736 | C | T | 17 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(14): Show |
17 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.3925+536G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038736 | |||||||
chr2:189038742 | G | C | 38 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(35): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3925+530C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038742 | |||||||
chr2:189038817 | GTAGCTGG others(3): Show |
G | 1 | a0001c0019t0001g0070 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.3925+445_3925+454d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038817 | |||||||
chr2:189038836 | C | G | 19 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(16): Show |
19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.3925+436G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038836 | |||||||
chr2:189038993 | T | C | 17 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(14): Show |
17 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.3925+279A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189038993 | |||||||
chr2:189039033 | T | C | 1 | a0001c0001t0001g0117 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3925+239A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189039033 | |||||||
chr2:189039235 | C | A | 9 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 others(6): Show |
9 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(6): Show |
intron_variant | MODIFIER | c.3925+37G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 51/53 | chr2 | 189039235 | |||||||
chr2:189039672 | A | G | 1 | a0001c0001t0023g0009 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.3634-109T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039672 | |||||||
chr2:189039687 | C | T | 30 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(27): Show |
30 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(27): Show |
intron_variant | MODIFIER | c.3634-124G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039687 | |||||||
chr2:189039776 | A | T | 38 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(35): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3634-213T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039776 | |||||||
chr2:189039881 | T | C | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3634-318A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039881 | |||||||
chr2:189039886 | A | G | 38 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(35): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3634-323T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039886 | |||||||
chr2:189039948 | T | C | 38 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(35): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3634-385A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039948 | |||||||
chr2:189039963 | C | T | 4 | a0001c0004t0001g0170 a0001c0004t0001g0175 a0001c0004t0001g0211 others(1): Show |
4 | HG02056.hp1 NA18941.hp1 NA18972.hp1 others(1): Show |
intron_variant | MODIFIER | c.3634-400G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039963 | |||||||
chr2:189039993 | T | C | 2 | a0001c0028t0012g0151 a0011c0018t0012g0148 |
2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.3634-430A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189039993 | |||||||
chr2:189040186 | C | T | 1 | a0001c0001t0024g0241 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3634-623G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040186 | |||||||
chr2:189040333 | G | C | 33 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(30): Show |
33 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(30): Show |
intron_variant | MODIFIER | c.3634-770C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040333 | |||||||
chr2:189040335 | C | CT | 120 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(117): Show |
121 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(118): Show |
intron_variant | MODIFIER | c.3634-773dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | |||||||
chr2:189040335 | C | CTT | 7 | a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0230 others(4): Show |
7 | HG02145.hp1 HG03195.hp1 HG03490.hp2 others(4): Show |
intron_variant | MODIFIER | c.3634-774_3634-773d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | |||||||
chr2:189040335 | C | CTTT | 30 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(27): Show |
30 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(27): Show |
intron_variant | MODIFIER | c.3634-775_3634-773d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | |||||||
chr2:189040335 | CT | C | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0003t0001g0197 others(2): Show |
5 | HG01261.hp1 HG02630.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.3634-773delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | |||||||
chr2:189040335 | CTT | C | 5 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0012t0010g0040 others(2): Show |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3634-774_3634-773d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040335 | |||||||
chr2:189040470 | G | T | 1 | a0001c0001t0001g0083 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.3634-907C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040470 | |||||||
chr2:189040500 | C | A | 4 | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0093 others(1): Show |
4 | HG00621.hp2 HG01975.hp2 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.3634-937G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040500 | |||||||
chr2:189040658 | A | AT | 9 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 others(6): Show |
9 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(6): Show |
intron_variant | MODIFIER | c.3633+927dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040658 | |||||||
chr2:189040671 | C | T | 158 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(155): Show |
158 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
intron_variant | MODIFIER | c.3633+915G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040671 | |||||||
chr2:189040676 | C | T | 1 | a0001c0001t0003g0135 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.3633+910G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040676 | |||||||
chr2:189040703 | G | A | 5 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0012t0010g0040 others(2): Show |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3633+883C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040703 | |||||||
chr2:189040712 | T | C | 38 | a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 others(35): Show |
38 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3633+874A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040712 | |||||||
chr2:189040875 | T | C | 101 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(98): Show |
101 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.3633+711A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040875 | |||||||
chr2:189040949 | G | C | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3633+637C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189040949 | |||||||
chr2:189041023 | C | A | 1 | a0001c0001t0001g0096 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.3633+563G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189041023 | |||||||
chr2:189041072 | A | C | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3633+514T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189041072 | |||||||
chr2:189041468 | C | T | 19 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(16): Show |
19 | HG00280.hp1 HG01081.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.3633+118G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189041468 | |||||||
chr2:189041479 | G | A | 5 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0012t0010g0040 others(2): Show |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3633+107C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 50/53 | chr2 | 189041479 | |||||||
chr2:189041716 | T | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3526-23A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189041716 | |||||||
chr2:189041790 | C | T | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0023g0009 others(2): Show |
5 | HG02630.hp2 HG02818.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.3526-97G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189041790 | |||||||
chr2:189042017 | G | A | 99 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(96): Show |
99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.3526-324C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042017 | |||||||
chr2:189042067 | G | A | 5 | a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0012t0010g0040 others(2): Show |
5 | HG01069.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.3526-374C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042067 | |||||||
chr2:189042088 | G | C | 59 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(56): Show |
59 | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.3526-395C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042088 | |||||||
chr2:189042102 | C | A | 168 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(165): Show |
171 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(168): Show |
intron_variant | MODIFIER | c.3526-409G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042102 | |||||||
chr2:189042367 | T | C | 40 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(37): Show |
40 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3525+353A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042367 | |||||||
chr2:189042379 | C | T | 32 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(29): Show |
32 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(29): Show |
intron_variant | MODIFIER | c.3525+341G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042379 | |||||||
chr2:189042381 | G | C | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3525+339C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042381 | |||||||
chr2:189042408 | C | T | 40 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(37): Show |
40 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3525+312G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042408 | |||||||
chr2:189042513 | C | T | 40 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(37): Show |
40 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3525+207G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042513 | |||||||
chr2:189042546 | T | C | 40 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(37): Show |
40 | HG00423.hp2 HG00597.hp1 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3525+174A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 49/53 | chr2 | 189042546 | |||||||
chr2:189042839 | A | G | 8 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(5): Show |
8 | HG00280.hp1 HG01975.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.3472-66T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189042839 | |||||||
chr2:189042936 | A | G | 1 | a0001c0001t0001g0147 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3472-163T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189042936 | |||||||
chr2:189042950 | A | G | 31 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(28): Show |
31 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(28): Show |
intron_variant | MODIFIER | c.3472-177T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189042950 | |||||||
chr2:189043059 | T | G | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.3471+92A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189043059 | |||||||
chr2:189043089 | G | A | 20 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(17): Show |
20 | HG00280.hp1 HG01069.hp1 HG01081.hp2 others(17): Show |
intron_variant | MODIFIER | c.3471+62C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 48/53 | chr2 | 189043089 | |||||||
chr2:189043275 | G | A | 1 | a0003c0014t0001g0120 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3364-17C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043275 | |||||||
chr2:189043287 | A | G | 1 | a0002c0006t0005g0132 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.3364-29T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043287 | |||||||
chr2:189043338 | A | G | 2 | a0001c0001t0001g0030 a0001c0001t0001g0162 |
2 | HG02135.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.3364-80T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043338 | |||||||
chr2:189043445 | G | A | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.3364-187C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043445 | |||||||
chr2:189043570 | GT | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.3364-313delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043570 | |||||||
chr2:189043893 | C | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3364-635G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189043893 | |||||||
chr2:189044259 | T | G | 1 | a0001c0001t0004g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3363+920A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044259 | |||||||
chr2:189044780 | C | T | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.3363+399G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044780 | |||||||
chr2:189044784 | G | C | 1 | a0001c0001t0001g0158 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3363+395C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044784 | |||||||
chr2:189044798 | G | C | 1 | a0001c0001t0001g0158 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3363+381C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044798 | |||||||
chr2:189044902 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3363+277G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044902 | |||||||
chr2:189044979 | T | C | 1 | a0001c0001t0004g0192 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.3363+200A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189044979 | |||||||
chr2:189045014 | C | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3363+165G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189045014 | |||||||
chr2:189045032 | A | G | 1 | a0001c0001t0001g0032 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3363+147T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 47/53 | chr2 | 189045032 | |||||||
chr2:189045340 | A | ATG | 4 | a0001c0001t0001g0146 a0001c0019t0001g0070 a0001c0026t0015g0003 others(1): Show |
4 | HG01069.hp1 NA18906.hp1 NA18945.hp2 others(1): Show |
intron_variant | MODIFIER | c.3310-110_3310-109d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045340 | |||||||
chr2:189045340 | A | G | 22 | a0001c0001t0023g0009 a0001c0004t0001g0002 a0001c0004t0001g0053 others(19): Show |
23 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(20): Show |
intron_variant | MODIFIER | c.3310-108T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045340 | |||||||
chr2:189045340 | ATG | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(40): Show |
intron_variant | MODIFIER | c.3310-110_3310-109d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045340 | |||||||
chr2:189045363 | T | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3310-131A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045363 | |||||||
chr2:189045396 | G | A | 47 | a0001c0001t0001g0030 a0001c0001t0001g0068 a0001c0001t0001g0162 others(44): Show |
47 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(44): Show |
intron_variant | MODIFIER | c.3310-164C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045396 | |||||||
chr2:189045441 | T | C | 1 | a0001c0002t0002g0048 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.3310-209A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045441 | |||||||
chr2:189045693 | C | A | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.3309+107G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 46/53 | chr2 | 189045693 | |||||||
chr2:189045969 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3202-62A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189045969 | |||||||
chr2:189046148 | G | A | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3202-241C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046148 | |||||||
chr2:189046311 | T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3202-404A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046311 | |||||||
chr2:189046440 | T | C | 1 | a0001c0004t0001g0212 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3202-533A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046440 | |||||||
chr2:189046442 | C | T | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3202-535G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046442 | |||||||
chr2:189046525 | G | A | 3 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 |
3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.3202-618C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046525 | |||||||
chr2:189046671 | A | G | 1 | a0001c0001t0001g0111 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3202-764T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046671 | |||||||
chr2:189046725 | A | C | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.3202-818T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046725 | |||||||
chr2:189046815 | G | GA | 7 | a0001c0001t0001g0055 a0001c0002t0009g0143 a0001c0002t0009g0160 others(4): Show |
7 | HG01978.hp2 HG02258.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.3202-909dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046815 | |||||||
chr2:189046842 | G | A | 97 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(94): Show |
97 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(94): Show |
intron_variant | MODIFIER | c.3202-935C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046842 | |||||||
chr2:189046923 | A | G | 2 | a0004c0009t0001g0019 a0004c0009t0001g0027 |
2 | HG01433.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.3202-1016T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046923 | |||||||
chr2:189046942 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3202-1035A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189046942 | |||||||
chr2:189047051 | G | A | 1 | a0001c0008t0001g0215 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3202-1144C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047051 | |||||||
chr2:189047120 | C | CA | 62 | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0050 others(59): Show |
66 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(63): Show |
intron_variant | MODIFIER | c.3201+1088dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047120 | |||||||
chr2:189047120 | C | CAA | 9 | a0001c0001t0003g0045 a0001c0004t0001g0170 a0001c0004t0001g0175 others(6): Show |
9 | HG01943.hp2 HG02056.hp1 NA18941.hp1 others(6): Show |
intron_variant | MODIFIER | c.3201+1087_3201+108 others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047120 | |||||||
chr2:189047120 | CA | C | 12 | a0001c0001t0001g0086 a0001c0001t0023g0009 a0001c0002t0002g0028 others(9): Show |
12 | HG01069.hp1 HG01192.hp2 HG03540.hp1 others(9): Show |
intron_variant | MODIFIER | c.3201+1088delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047120 | |||||||
chr2:189047645 | T | G | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.3201+564A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047645 | |||||||
chr2:189047799 | T | C | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3201+410A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047799 | |||||||
chr2:189047946 | C | T | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3201+263G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 45/53 | chr2 | 189047946 | |||||||
chr2:189048397 | CAGA | C | 21 | a0001c0003t0001g0150 a0001c0003t0001g0163 a0001c0003t0001g0174 others(18): Show |
21 | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3148-138_3148-136d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048397 | |||||||
chr2:189048547 | C | T | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.3148-285G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048547 | |||||||
chr2:189048649 | C | T | 1 | a0003c0014t0001g0120 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3148-387G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048649 | |||||||
chr2:189048678 | TC | T | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.3148-417delG | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048678 | |||||||
chr2:189048696 | T | C | 9 | a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 others(6): Show |
9 | HG00408.hp1 HG02165.hp1 NA18945.hp1 others(6): Show |
intron_variant | MODIFIER | c.3148-434A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048696 | |||||||
chr2:189048774 | T | C | 1 | a0001c0025t0001g0125 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3148-512A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048774 | |||||||
chr2:189048790 | T | C | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3148-528A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048790 | |||||||
chr2:189048992 | C | A | 1 | a0001c0001t0001g0066 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3147+355G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189048992 | |||||||
chr2:189049016 | A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3147+331T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049016 | |||||||
chr2:189049022 | T | C | 51 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(48): Show |
51 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.3147+325A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049022 | |||||||
chr2:189049046 | A | AG | 152 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(149): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(149): Show |
intron_variant | MODIFIER | c.3147+300dupC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049046 | |||||||
chr2:189049049 | G | GA | 4 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0028t0012g0151 others(1): Show |
4 | HG02630.hp2 HG02818.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.3147+297dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049049 | |||||||
chr2:189049104 | T | G | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3147+243A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049104 | |||||||
chr2:189049301 | T | C | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.3147+46A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 44/53 | chr2 | 189049301 | |||||||
chr2:189049494 | T | C | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3040-40A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049494 | |||||||
chr2:189049506 | A | C | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3040-52T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049506 | |||||||
chr2:189049513 | A | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3040-59T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049513 | |||||||
chr2:189049619 | C | T | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.3040-165G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049619 | |||||||
chr2:189049644 | C | T | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3040-190G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049644 | |||||||
chr2:189049661 | A | G | 39 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(36): Show |
39 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(36): Show |
intron_variant | MODIFIER | c.3040-207T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189049661 | |||||||
chr2:189050223 | G | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3039+346C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189050223 | |||||||
chr2:189050280 | CTCCGGGA | C | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.3039+282_3039+288d others(9): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189050280 | |||||||
chr2:189050329 | T | C | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3039+240A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | 189050329 | |||||||
chr2:189050838 | C | T | 3 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 |
3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.2932-162G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189050838 | |||||||
chr2:189051087 | T | C | 37 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(34): Show |
37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.2931+233A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189051087 | |||||||
chr2:189051165 | G | A | 1 | a0001c0001t0004g0079 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2931+155C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189051165 | |||||||
chr2:189051199 | T | A | 1 | a0001c0003t0001g0188 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2931+121A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189051199 | |||||||
chr2:189051309 | G | A | 1 | a0001c0001t0001g0191 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2931+11C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 42/53 | chr2 | 189051309 | |||||||
chr2:189051515 | C | A | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2770-34G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051515 | |||||||
chr2:189051540 | T | C | 1 | a0001c0001t0001g0050 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.2770-59A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051540 | |||||||
chr2:189051642 | CAAAAG | C | 39 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(36): Show |
39 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(36): Show |
intron_variant | MODIFIER | c.2770-166_2770-162d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051642 | |||||||
chr2:189051647 | G | C | 1 | a0001c0004t0021g0134 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2770-166C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051647 | |||||||
chr2:189051671 | C | T | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.2770-190G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051671 | |||||||
chr2:189051787 | T | C | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2770-306A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051787 | |||||||
chr2:189051885 | A | G | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2769+287T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051885 | |||||||
chr2:189051908 | T | C | 1 | a0001c0001t0003g0184 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2769+264A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189051908 | |||||||
chr2:189052009 | G | A | 2 | a0001c0001t0003g0210 a0001c0001t0003g0222 |
2 | NA18942.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.2769+163C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189052009 | |||||||
chr2:189052069 | C | T | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2769+103G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189052069 | |||||||
chr2:189052153 | T | A | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2769+19A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 41/53 | chr2 | 189052153 | |||||||
chr2:189052229 | G | A | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
splice_region_variant&intron_variant | LOW | c.2716-4C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052229 | |||||||
chr2:189052247 | A | T | 1 | a0001c0002t0002g0138 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2716-22T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052247 | |||||||
chr2:189052366 | C | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.2716-141G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052366 | |||||||
chr2:189052511 | T | A | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2715+238A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052511 | |||||||
chr2:189052512 | T | A | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2715+237A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052512 | |||||||
chr2:189052513 | T | A | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2715+236A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052513 | |||||||
chr2:189052536 | A | G | 3 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 |
3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.2715+213T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052536 | |||||||
chr2:189052642 | T | C | 1 | a0001c0001t0001g0091 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2715+107A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052642 | |||||||
chr2:189052707 | G | T | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2715+42C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 40/53 | chr2 | 189052707 | |||||||
chr2:189052891 | C | T | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2661+20G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 39/53 | chr2 | 189052891 | |||||||
chr2:189053032 | T | C | 1 | a0001c0001t0001g0096 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.2554-14A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 38/53 | chr2 | 189053032 | |||||||
chr2:189053078 | A | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.2554-60T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 38/53 | chr2 | 189053078 | |||||||
chr2:189053336 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2553+88G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 38/53 | chr2 | 189053336 | |||||||
chr2:189053372 | T | C | 2 | a0001c0001t0008g0220 a0001c0001t0025g0243 |
2 | HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2553+52A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 38/53 | chr2 | 189053372 | |||||||
chr2:189053611 | T | C | 156 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.2500-134A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/53 | chr2 | 189053611 | |||||||
chr2:189053790 | A | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.2499+105T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/53 | chr2 | 189053790 | |||||||
chr2:189053854 | C | G | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2499+41G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/53 | chr2 | 189053854 | |||||||
chr2:189053858 | A | G | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2499+37T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 37/53 | chr2 | 189053858 | |||||||
chr2:189054032 | T | C | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2446-84A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054032 | |||||||
chr2:189054035 | T | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2446-87A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054035 | |||||||
chr2:189054061 | C | T | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2445+98G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054061 | |||||||
chr2:189054071 | A | G | 8 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(5): Show |
8 | HG00280.hp1 HG01975.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.2445+88T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054071 | |||||||
chr2:189054117 | A | T | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2445+42T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 36/53 | chr2 | 189054117 | |||||||
chr2:189054253 | G | A | 3 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 |
3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.2392-41C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054253 | |||||||
chr2:189054298 | C | T | 1 | a0010c0024t0004g0063 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2392-86G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054298 | |||||||
chr2:189054375 | G | T | 1 | a0005c0013t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2392-163C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054375 | |||||||
chr2:189054440 | T | G | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2392-228A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054440 | |||||||
chr2:189054687 | T | A | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2392-475A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054687 | |||||||
chr2:189054687 | TTC | T | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2392-477_2392-476d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054687 | |||||||
chr2:189054690 | C | CT | 8 | a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0001g0109 others(5): Show |
8 | HG02145.hp1 HG03516.hp2 HG03704.hp2 others(5): Show |
intron_variant | MODIFIER | c.2392-479dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054690 | |||||||
chr2:189054690 | CT | C | 97 | a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0059 others(94): Show |
98 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.2392-479delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054690 | |||||||
chr2:189054691 | T | C | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2392-479A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054691 | |||||||
chr2:189054791 | T | C | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2392-579A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054791 | |||||||
chr2:189054887 | AT | A | 48 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(45): Show |
48 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.2392-676delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189054887 | |||||||
chr2:189055008 | C | G | 4 | a0001c0005t0002g0171 a0001c0005t0002g0173 a0001c0005t0002g0229 others(1): Show |
4 | HG00423.hp2 HG00609.hp2 NA18947.hp2 others(1): Show |
intron_variant | MODIFIER | c.2392-796G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055008 | |||||||
chr2:189055080 | G | T | 1 | a0001c0002t0014g0244 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2392-868C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055080 | |||||||
chr2:189055463 | C | T | 1 | a0001c0002t0002g0058 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.2392-1251G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055463 | |||||||
chr2:189055501 | TTATAGAT others(3): Show |
T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2392-1299_2392-129 others(14): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055501 | |||||||
chr2:189055892 | T | A | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2391+1081A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189055892 | |||||||
chr2:189056076 | C | T | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2391+897G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056076 | |||||||
chr2:189056193 | T | C | 1 | a0001c0001t0024g0241 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2391+780A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056193 | |||||||
chr2:189056207 | T | C | 7 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0023g0009 others(4): Show |
7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.2391+766A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056207 | |||||||
chr2:189056332 | C | T | 1 | a0001c0001t0004g0192 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2391+641G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056332 | |||||||
chr2:189056571 | T | C | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2391+402A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056571 | |||||||
chr2:189056925 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2391+48A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 35/53 | chr2 | 189056925 | |||||||
chr2:189057050 | T | C | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2338-24A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057050 | |||||||
chr2:189057177 | T | C | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2337+143A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057177 | |||||||
chr2:189057258 | C | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2337+62G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057258 | |||||||
chr2:189057290 | G | GA | 96 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(93): Show |
96 | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.2337+29dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057290 | |||||||
chr2:189057290 | GA | G | 11 | a0001c0001t0003g0045 a0001c0001t0003g0209 a0001c0004t0001g0053 others(8): Show |
11 | HG01081.hp2 HG01192.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.2337+29delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 34/53 | chr2 | 189057290 | |||||||
chr2:189057481 | T | C | 2 | a0001c0001t0008g0220 a0001c0001t0025g0243 |
2 | HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2230-54A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057481 | |||||||
chr2:189057547 | T | C | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2230-120A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057547 | |||||||
chr2:189057587 | T | C | 6 | a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 others(3): Show |
6 | HG00597.hp1 NA18960.hp1 NA18965.hp2 others(3): Show |
intron_variant | MODIFIER | c.2230-160A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057587 | |||||||
chr2:189057624 | C | T | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2230-197G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057624 | |||||||
chr2:189057666 | G | T | 12 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0020 others(9): Show |
12 | HG00597.hp1 HG02135.hp2 NA18612.hp2 others(9): Show |
intron_variant | MODIFIER | c.2230-239C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057666 | |||||||
chr2:189057682 | A | G | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2230-255T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057682 | |||||||
chr2:189057864 | C | T | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2230-437G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189057864 | |||||||
chr2:189058011 | G | C | 2 | a0001c0002t0009g0160 a0001c0002t0009g0161 |
2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2229+418C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058011 | |||||||
chr2:189058194 | A | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.2229+235T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058194 | |||||||
chr2:189058259 | A | C | 1 | a0001c0001t0003g0231 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2229+170T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058259 | |||||||
chr2:189058334 | T | C | 1 | a0001c0001t0001g0109 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.2229+95A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058334 | |||||||
chr2:189058370 | C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2229+59G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058370 | |||||||
chr2:189058378 | A | G | 216 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(213): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
intron_variant | MODIFIER | c.2229+51T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 33/53 | chr2 | 189058378 | |||||||
chr2:189058556 | C | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2131-29G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 32/53 | chr2 | 189058556 | |||||||
chr2:189058675 | T | C | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2131-148A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 32/53 | chr2 | 189058675 | |||||||
chr2:189058708 | A | C | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2130+141T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 32/53 | chr2 | 189058708 | |||||||
chr2:189058724 | A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2130+125T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 32/53 | chr2 | 189058724 | |||||||
chr2:189058904 | A | AT | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.2086-12dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189058904 | |||||||
chr2:189058904 | AT | A | 154 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(151): Show |
154 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.2086-12delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189058904 | |||||||
chr2:189059552 | C | T | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2086-659G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059552 | |||||||
chr2:189059585 | G | GT | 17 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0060 others(14): Show |
20 | HG01358.hp1 HG02055.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.2086-693dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTT | 28 | a0001c0001t0001g0030 a0001c0001t0004g0079 a0001c0001t0004g0149 others(25): Show |
28 | HG00280.hp1 HG00597.hp1 HG01516.hp1 others(25): Show |
intron_variant | MODIFIER | c.2086-697_2086-693d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTT | 19 | a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 others(16): Show |
19 | HG01081.hp2 HG01106.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.2086-698_2086-693d others(8): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT | 5 | a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0002t0020g0038 others(2): Show |
5 | HG01192.hp1 HG02258.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.2086-699_2086-693d others(9): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(8): Show |
4 | a0001c0001t0001g0050 a0001c0001t0001g0083 a0003c0014t0001g0039 others(1): Show |
4 | HG01081.hp1 HG01169.hp1 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.2086-707_2086-693d others(17): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(9): Show |
24 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 others(21): Show |
24 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(21): Show |
intron_variant | MODIFIER | c.2086-708_2086-693d others(18): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(10): Show |
24 | a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0042 others(21): Show |
24 | HG00423.hp1 HG00621.hp1 HG00621.hp2 others(21): Show |
intron_variant | MODIFIER | c.2086-709_2086-693d others(19): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(11): Show |
14 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0072 others(11): Show |
14 | HG01517.hp2 HG01884.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.2086-710_2086-693d others(20): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(12): Show |
4 | a0001c0001t0001g0055 a0001c0001t0001g0102 a0001c0001t0001g0159 others(1): Show |
4 | HG01978.hp2 HG02145.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2086-711_2086-693d others(21): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(13): Show |
4 | a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0158 others(1): Show |
4 | NA18906.hp2 NA18978.hp1 NA19006.hp2 others(1): Show |
intron_variant | MODIFIER | c.2086-712_2086-693d others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(14): Show |
1 | a0001c0001t0001g0010 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2086-713_2086-693d others(23): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(15): Show |
3 | a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0094 |
3 | HG03492.hp1 HG03831.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.2086-714_2086-693d others(24): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(16): Show |
1 | a0001c0001t0001g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.2086-715_2086-693d others(25): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(17): Show |
1 | a0001c0001t0001g0088 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2086-716_2086-693d others(26): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(20): Show |
1 | a0001c0019t0001g0070 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.2086-693_2086-692i others(29): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | G | GTTTTTTT others(25): Show |
1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2086-693_2086-692i others(34): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | GT | G | 29 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(26): Show |
30 | HG01257.hp1 HG01258.hp2 HG01433.hp1 others(27): Show |
intron_variant | MODIFIER | c.2086-693delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | GTT | G | 12 | a0001c0001t0001g0112 a0001c0001t0003g0177 a0001c0001t0003g0179 others(9): Show |
12 | HG00408.hp1 HG02165.hp1 NA18747.hp1 others(9): Show |
intron_variant | MODIFIER | c.2086-694_2086-693d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059585 | GTTTTTTT others(2): Show |
G | 7 | a0001c0001t0023g0009 a0001c0002t0009g0143 a0001c0002t0009g0160 others(4): Show |
7 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.2086-701_2086-693d others(11): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059585 | |||||||
chr2:189059788 | T | C | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2086-895A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059788 | |||||||
chr2:189059926 | A | C | 2 | a0001c0002t0002g0029 a0001c0002t0002g0037 |
2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.2085+804T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059926 | |||||||
chr2:189059953 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2085+777G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059953 | |||||||
chr2:189059962 | G | A | 4 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 others(1): Show |
4 | HG01261.hp2 HG02109.hp2 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.2085+768C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189059962 | |||||||
chr2:189060271 | G | A | 1 | a0001c0028t0012g0151 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2085+459C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060271 | |||||||
chr2:189060278 | C | G | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2085+452G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060278 | |||||||
chr2:189060300 | G | A | 1 | a0001c0002t0020g0038 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.2085+430C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060300 | |||||||
chr2:189060306 | G | A | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2085+424C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060306 | |||||||
chr2:189060344 | C | G | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.2085+386G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060344 | |||||||
chr2:189060394 | TA | T | 37 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(34): Show |
37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.2085+335delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060394 | |||||||
chr2:189060520 | T | C | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2085+210A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060520 | |||||||
chr2:189060587 | G | C | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.2085+143C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | 189060587 | |||||||
chr2:189060817 | C | T | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.2032-34G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060817 | |||||||
chr2:189060822 | T | A | 216 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(213): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
intron_variant | MODIFIER | c.2032-39A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060822 | |||||||
chr2:189060840 | A | G | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2032-57T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060840 | |||||||
chr2:189060859 | T | A | 1 | a0001c0001t0001g0071 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2032-76A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060859 | |||||||
chr2:189060886 | T | C | 6 | a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 others(3): Show |
6 | HG00597.hp1 NA18960.hp1 NA18965.hp2 others(3): Show |
intron_variant | MODIFIER | c.2032-103A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060886 | |||||||
chr2:189060907 | G | A | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2032-124C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189060907 | |||||||
chr2:189061129 | T | A | 2 | a0001c0001t0003g0127 a0001c0001t0003g0128 |
2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.2032-346A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061129 | |||||||
chr2:189061165 | A | G | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2032-382T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061165 | |||||||
chr2:189061283 | T | C | 30 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(27): Show |
30 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(27): Show |
intron_variant | MODIFIER | c.2031+279A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061283 | |||||||
chr2:189061493 | CT | C | 8 | a0001c0001t0001g0050 a0001c0001t0001g0121 a0001c0001t0003g0182 others(5): Show |
8 | HG01069.hp1 HG01069.hp2 HG01081.hp2 others(5): Show |
intron_variant | MODIFIER | c.2031+68delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061493 | |||||||
chr2:189061502 | T | A | 5 | a0001c0001t0001g0083 a0001c0003t0001g0186 a0002c0006t0005g0131 others(2): Show |
5 | HG01192.hp2 HG01516.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2031+60A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061502 | |||||||
chr2:189061502 | TA | T | 17 | a0001c0001t0001g0059 a0001c0001t0004g0005 a0001c0001t0004g0043 others(14): Show |
17 | HG00280.hp1 HG01884.hp2 HG01975.hp1 others(14): Show |
intron_variant | MODIFIER | c.2031+59delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061502 | |||||||
chr2:189061503 | A | T | 34 | a0001c0001t0001g0030 a0001c0001t0001g0064 a0001c0001t0001g0162 others(31): Show |
34 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(31): Show |
intron_variant | MODIFIER | c.2031+59T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 30/53 | chr2 | 189061503 | |||||||
chr2:189061651 | C | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1978-36G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189061651 | |||||||
chr2:189061696 | T | C | 1 | a0001c0001t0001g0155 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1978-81A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189061696 | |||||||
chr2:189061733 | C | G | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1978-118G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189061733 | |||||||
chr2:189062069 | C | A | 1 | a0001c0001t0003g0185 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1978-454G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062069 | |||||||
chr2:189062182 | TA | T | 37 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(34): Show |
37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.1978-568delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062182 | |||||||
chr2:189062184 | AT | A | 194 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(191): Show |
198 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(195): Show |
intron_variant | MODIFIER | c.1978-570delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062184 | |||||||
chr2:189062185 | T | C | 37 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(34): Show |
37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.1978-570A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062185 | |||||||
chr2:189062285 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1977+580C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062285 | |||||||
chr2:189062331 | A | T | 37 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(34): Show |
37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.1977+534T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062331 | |||||||
chr2:189062529 | T | C | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1977+336A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062529 | |||||||
chr2:189062780 | C | G | 161 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(158): Show |
164 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(161): Show |
intron_variant | MODIFIER | c.1977+85G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062780 | |||||||
chr2:189062804 | C | T | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1977+61G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 29/53 | chr2 | 189062804 | |||||||
chr2:189063143 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1869+29C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 27/53 | chr2 | 189063143 | |||||||
chr2:189063453 | T | C | 5 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(2): Show |
5 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1771-183A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 26/53 | chr2 | 189063453 | |||||||
chr2:189063669 | A | C | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1770+311T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 26/53 | chr2 | 189063669 | |||||||
chr2:189063693 | C | T | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.1770+287G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 26/53 | chr2 | 189063693 | |||||||
chr2:189063958 | G | A | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1770+22C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 26/53 | chr2 | 189063958 | |||||||
chr2:189064108 | TG | T | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1717-76delC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 25/53 | chr2 | 189064108 | |||||||
chr2:189064273 | C | CAAGTA | 216 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(213): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
intron_variant | MODIFIER | c.1717-241_1717-240i others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 25/53 | chr2 | 189064273 | |||||||
chr2:189064548 | T | C | 2 | a0001c0003t0001g0174 a0001c0003t0001g0205 |
2 | NA18940.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.1716+9A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 25/53 | chr2 | 189064548 | |||||||
chr2:189064676 | T | C | 1 | a0001c0001t0001g0067 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1618-21A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064676 | |||||||
chr2:189064782 | G | A | 1 | a0001c0001t0003g0179 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1618-127C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064782 | |||||||
chr2:189064853 | A | C | 1 | a0001c0001t0003g0184 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1617+151T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064853 | |||||||
chr2:189064869 | G | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1617+135C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064869 | |||||||
chr2:189064936 | C | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1617+68G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064936 | |||||||
chr2:189064993 | G | T | 1 | a0001c0001t0001g0105 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1617+11C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 24/53 | chr2 | 189064993 | |||||||
chr2:189065078 | A | G | 1 | a0001c0001t0001g0091 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1564-21T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065078 | |||||||
chr2:189065094 | G | A | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1564-37C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065094 | |||||||
chr2:189065104 | C | T | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1564-47G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065104 | |||||||
chr2:189065216 | A | C | 1 | a0001c0003t0001g0186 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1564-159T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065216 | |||||||
chr2:189065292 | G | T | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1564-235C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065292 | |||||||
chr2:189065339 | G | T | 1 | a0001c0001t0001g0071 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.1564-282C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065339 | |||||||
chr2:189065628 | T | C | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1564-571A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065628 | |||||||
chr2:189065860 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1563+530G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189065860 | |||||||
chr2:189066128 | G | A | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1563+262C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189066128 | |||||||
chr2:189066173 | G | C | 7 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0023g0009 others(4): Show |
7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.1563+217C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189066173 | |||||||
chr2:189066217 | T | G | 2 | a0001c0003t0001g0198 a0001c0003t0001g0234 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1563+173A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 23/53 | chr2 | 189066217 | |||||||
chr2:189066517 | A | G | 3 | a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0116 |
3 | HG00423.hp1 HG00621.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.1456-20T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 22/53 | chr2 | 189066517 | |||||||
chr2:189066636 | T | C | 1 | a0001c0002t0002g0238 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1455+93A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 22/53 | chr2 | 189066636 | |||||||
chr2:189066723 | C | A | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
splice_region_variant&intron_variant | LOW | c.1455+6G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 22/53 | chr2 | 189066723 | |||||||
chr2:189066828 | A | G | 1 | a0001c0001t0001g0103 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1402-46T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189066828 | |||||||
chr2:189066989 | A | T | 2 | a0001c0001t0003g0165 a0001c0001t0003g0166 |
2 | HG02280.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1402-207T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189066989 | |||||||
chr2:189067134 | C | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1402-352G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067134 | |||||||
chr2:189067200 | G | A | 1 | a0001c0001t0003g0135 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1402-418C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067200 | |||||||
chr2:189067529 | A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1401+486T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067529 | |||||||
chr2:189067575 | A | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1401+440T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067575 | |||||||
chr2:189067657 | T | C | 2 | a0001c0001t0001g0004 a0001c0001t0001g0091 |
2 | HG02723.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1401+358A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067657 | |||||||
chr2:189067734 | A | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1401+281T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067734 | |||||||
chr2:189067916 | A | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1401+99T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 21/53 | chr2 | 189067916 | |||||||
chr2:189068361 | A | C | 1 | a0001c0001t0001g0096 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1258-91T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 19/53 | chr2 | 189068361 | |||||||
chr2:189068602 | G | A | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1257+184C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 19/53 | chr2 | 189068602 | |||||||
chr2:189068711 | T | C | 2 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | HG02109.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.1257+75A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 19/53 | chr2 | 189068711 | |||||||
chr2:189068731 | G | A | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1257+55C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 19/53 | chr2 | 189068731 | |||||||
chr2:189068906 | T | C | 1 | a0001c0001t0001g0086 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1159-22A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189068906 | |||||||
chr2:189068960 | G | A | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.1159-76C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189068960 | |||||||
chr2:189069111 | T | G | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.1159-227A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069111 | |||||||
chr2:189069130 | A | G | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1159-246T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069130 | |||||||
chr2:189069203 | C | T | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1159-319G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069203 | |||||||
chr2:189069375 | A | G | 153 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(150): Show |
153 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.1159-491T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069375 | |||||||
chr2:189069450 | C | T | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1159-566G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069450 | |||||||
chr2:189069611 | T | C | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1159-727A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069611 | |||||||
chr2:189069731 | A | G | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1159-847T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069731 | |||||||
chr2:189069929 | T | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1159-1045A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189069929 | |||||||
chr2:189070363 | G | A | 1 | a0001c0003t0001g0150 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1159-1479C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070363 | |||||||
chr2:189070366 | A | G | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1159-1482T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070366 | |||||||
chr2:189070516 | A | G | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+1524T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070516 | |||||||
chr2:189070541 | A | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1158+1499T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070541 | |||||||
chr2:189070559 | C | A | 7 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0023g0009 others(4): Show |
7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.1158+1481G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070559 | |||||||
chr2:189070644 | T | C | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+1396A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070644 | |||||||
chr2:189070662 | CCT | C | 5 | a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0106 others(2): Show |
5 | HG01516.hp2 HG01517.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+1376_1158+137 others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070662 | |||||||
chr2:189070771 | G | A | 10 | a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 others(7): Show |
10 | HG00408.hp1 HG02165.hp1 NA18945.hp1 others(7): Show |
intron_variant | MODIFIER | c.1158+1269C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070771 | |||||||
chr2:189070828 | G | T | 3 | a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0119 |
3 | HG00280.hp2 HG01255.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.1158+1212C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070828 | |||||||
chr2:189070855 | C | G | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+1185G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070855 | |||||||
chr2:189070934 | G | A | 1 | a0001c0001t0001g0076 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1158+1106C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070934 | |||||||
chr2:189070967 | T | A | 74 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 others(71): Show |
74 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(71): Show |
intron_variant | MODIFIER | c.1158+1073A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070967 | |||||||
chr2:189070977 | C | A | 1 | a0001c0001t0001g0064 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1158+1063G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189070977 | |||||||
chr2:189071107 | C | T | 216 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(213): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
intron_variant | MODIFIER | c.1158+933G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071107 | |||||||
chr2:189071236 | C | T | 1 | a0001c0001t0001g0055 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1158+804G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071236 | |||||||
chr2:189071385 | T | C | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1158+655A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071385 | |||||||
chr2:189071474 | A | G | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1158+566T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071474 | |||||||
chr2:189071924 | CT | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1158+115delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071924 | |||||||
chr2:189071961 | T | G | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1158+79A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 18/53 | chr2 | 189071961 | |||||||
chr2:189072432 | T | C | 7 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0023g0009 others(4): Show |
7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.1105-339A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072432 | |||||||
chr2:189072499 | C | T | 1 | a0001c0001t0025g0243 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1105-406G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072499 | |||||||
chr2:189072500 | G | T | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1105-407C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072500 | |||||||
chr2:189072554 | C | T | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1105-461G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072554 | |||||||
chr2:189072570 | G | A | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1105-477C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072570 | |||||||
chr2:189072680 | G | A | 2 | a0001c0002t0009g0160 a0001c0002t0009g0161 |
2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1105-587C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072680 | |||||||
chr2:189072765 | C | CA | 57 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0044 others(54): Show |
57 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(54): Show |
intron_variant | MODIFIER | c.1105-673dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072765 | C | CAA | 34 | a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0147 others(31): Show |
35 | HG00408.hp1 HG01978.hp1 HG01981.hp2 others(32): Show |
intron_variant | MODIFIER | c.1105-674_1105-673d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072765 | C | CAAA | 6 | a0001c0004t0001g0212 a0001c0004t0001g0217 a0001c0004t0001g0219 others(3): Show |
6 | HG01433.hp1 HG02683.hp2 HG03942.hp1 others(3): Show |
intron_variant | MODIFIER | c.1105-675_1105-673d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072765 | C | CAAAAAA | 13 | a0001c0001t0004g0043 a0001c0001t0004g0079 a0001c0001t0004g0192 others(10): Show |
13 | HG01081.hp2 HG01192.hp2 HG01975.hp1 others(10): Show |
intron_variant | MODIFIER | c.1105-678_1105-673d others(8): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072765 | C | CAAAAAAA | 6 | a0001c0001t0004g0149 a0001c0002t0009g0161 a0001c0002t0014g0244 others(3): Show |
6 | HG00280.hp1 HG03225.hp2 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.1105-679_1105-673d others(9): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072765 | C | CAAAAAAA others(1): Show |
22 | a0001c0001t0001g0030 a0001c0002t0002g0016 a0001c0002t0002g0020 others(19): Show |
22 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(19): Show |
intron_variant | MODIFIER | c.1105-680_1105-673d others(10): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072765 | C | CAAAAAAA others(2): Show |
5 | a0001c0001t0001g0162 a0001c0002t0002g0023 a0001c0002t0002g0048 others(2): Show |
5 | HG02135.hp2 HG02293.hp1 HG03704.hp1 others(2): Show |
intron_variant | MODIFIER | c.1105-681_1105-673d others(11): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072765 | C | CAAAAAAA others(3): Show |
1 | a0001c0002t0014g0242 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1105-682_1105-673d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072765 | CA | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(3): Show |
9 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.1105-673delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072765 | CAAAAAAA others(5): Show |
C | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1105-684_1105-673d others(14): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072765 | |||||||
chr2:189072824 | GTGGATAT others(3): Show |
G | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1105-741_1105-732d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072824 | |||||||
chr2:189072873 | T | C | 2 | a0001c0001t0001g0061 a0001c0001t0001g0062 |
2 | HG01192.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.1105-780A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072873 | |||||||
chr2:189072984 | C | G | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1105-891G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189072984 | |||||||
chr2:189073029 | T | C | 4 | a0001c0001t0001g0012 a0001c0001t0001g0144 a0001c0001t0013g0145 others(1): Show |
4 | HG03041.hp2 NA19030.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.1105-936A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073029 | |||||||
chr2:189073109 | C | A | 2 | a0001c0001t0004g0005 a0010c0024t0004g0063 |
2 | HG02451.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.1105-1016G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073109 | |||||||
chr2:189073128 | A | T | 2 | a0001c0001t0001g0018 a0001c0001t0001g0105 |
2 | HG00099.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.1105-1035T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073128 | |||||||
chr2:189073166 | G | A | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 others(4): Show |
7 | HG01192.hp1 HG01261.hp2 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.1105-1073C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073166 | |||||||
chr2:189073323 | T | C | 15 | a0001c0001t0001g0012 a0001c0001t0001g0117 a0001c0001t0001g0144 others(12): Show |
15 | HG01884.hp1 HG02145.hp1 HG02895.hp2 others(12): Show |
intron_variant | MODIFIER | c.1105-1230A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073323 | |||||||
chr2:189073375 | A | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.1105-1282T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073375 | |||||||
chr2:189073500 | A | G | 5 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(2): Show |
5 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1105-1407T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073500 | |||||||
chr2:189073528 | TG | T | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.1105-1436delC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073528 | |||||||
chr2:189073598 | G | A | 1 | a0001c0003t0001g0199 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.1105-1505C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073598 | |||||||
chr2:189073697 | A | G | 1 | a0001c0002t0002g0026 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1105-1604T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073697 | |||||||
chr2:189073765 | C | T | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1104+1628G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073765 | |||||||
chr2:189073945 | C | A | 1 | a0001c0001t0001g0155 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1104+1448G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189073945 | |||||||
chr2:189074023 | T | C | 1 | a0001c0002t0002g0016 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1104+1370A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074023 | |||||||
chr2:189074203 | C | T | 10 | a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 others(7): Show |
10 | HG00408.hp1 HG02165.hp1 NA18945.hp1 others(7): Show |
intron_variant | MODIFIER | c.1104+1190G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074203 | |||||||
chr2:189074218 | T | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1104+1175A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074218 | |||||||
chr2:189074234 | C | T | 51 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(48): Show |
51 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.1104+1159G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074234 | |||||||
chr2:189074245 | A | G | 1 | a0001c0001t0001g0106 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1104+1148T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074245 | |||||||
chr2:189074256 | C | G | 1 | a0001c0004t0001g0219 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1104+1137G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074256 | |||||||
chr2:189074270 | A | G | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.1104+1123T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074270 | |||||||
chr2:189074668 | T | C | 2 | a0001c0001t0003g0127 a0001c0001t0003g0128 |
2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.1104+725A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074668 | |||||||
chr2:189074676 | C | A | 1 | a0001c0001t0004g0192 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1104+717G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074676 | |||||||
chr2:189074768 | G | A | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.1104+625C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074768 | |||||||
chr2:189074825 | G | T | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.1104+568C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074825 | |||||||
chr2:189074977 | A | G | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1104+416T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074977 | |||||||
chr2:189074992 | G | A | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1104+401C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189074992 | |||||||
chr2:189075018 | T | G | 3 | a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0222 |
3 | NA18942.hp1 NA18953.hp1 NA18962.hp2 |
intron_variant | MODIFIER | c.1104+375A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075018 | |||||||
chr2:189075064 | A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1104+329T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075064 | |||||||
chr2:189075179 | T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1104+214A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075179 | |||||||
chr2:189075277 | A | G | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1104+116T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075277 | |||||||
chr2:189075378 | A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1104+15T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | 189075378 | |||||||
chr2:189076173 | G | A | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.1060-736C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076173 | |||||||
chr2:189076176 | C | T | 156 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.1060-739G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076176 | |||||||
chr2:189076268 | T | C | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1060-831A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076268 | |||||||
chr2:189076512 | T | C | 5 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1060-1075A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076512 | |||||||
chr2:189076603 | A | G | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1060-1166T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076603 | |||||||
chr2:189076639 | G | A | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1060-1202C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076639 | |||||||
chr2:189076642 | A | G | 1 | a0001c0002t0002g0139 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1060-1205T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076642 | |||||||
chr2:189076643 | A | G | 1 | a0001c0002t0002g0139 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1060-1206T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076643 | |||||||
chr2:189076747 | G | A | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1060-1310C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076747 | |||||||
chr2:189076808 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1060-1371G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076808 | |||||||
chr2:189076980 | C | T | 1 | a0001c0001t0001g0099 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1059+1536G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189076980 | |||||||
chr2:189077011 | A | G | 1 | a0001c0001t0003g0184 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1059+1505T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077011 | |||||||
chr2:189077016 | T | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1059+1500A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077016 | |||||||
chr2:189077058 | C | A | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.1059+1458G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077058 | |||||||
chr2:189077128 | G | C | 5 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(2): Show |
5 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.1059+1388C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077128 | |||||||
chr2:189077308 | C | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1059+1208G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077308 | |||||||
chr2:189077367 | A | G | 238 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(235): Show |
242 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(239): Show |
intron_variant | MODIFIER | c.1059+1149T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077367 | |||||||
chr2:189077419 | C | T | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1059+1097G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077419 | |||||||
chr2:189077505 | A | G | 1 | a0001c0001t0001g0044 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.1059+1011T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077505 | |||||||
chr2:189077521 | C | A | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.1059+995G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077521 | |||||||
chr2:189077534 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1059+982G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077534 | |||||||
chr2:189077786 | A | G | 198 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(195): Show |
201 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(198): Show |
intron_variant | MODIFIER | c.1059+730T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077786 | |||||||
chr2:189077830 | C | T | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.1059+686G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077830 | |||||||
chr2:189077940 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1059+576G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189077940 | |||||||
chr2:189078047 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1059+469C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189078047 | |||||||
chr2:189078069 | A | G | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.1059+447T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189078069 | |||||||
chr2:189078329 | G | T | 1 | a0001c0001t0001g0146 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1059+187C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189078329 | |||||||
chr2:189078395 | GA | G | 236 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(233): Show |
240 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.1059+120delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 16/53 | chr2 | 189078395 | |||||||
chr2:189078578 | G | A | 3 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 |
3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.1006-9C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078578 | |||||||
chr2:189078638 | C | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1006-69G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078638 | |||||||
chr2:189078709 | G | C | 1 | a0001c0002t0014g0244 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1006-140C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078709 | |||||||
chr2:189078756 | A | C | 2 | a0001c0001t0001g0080 a0001c0001t0001g0113 |
2 | HG02056.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.1006-187T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078756 | |||||||
chr2:189078850 | G | A | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1005+213C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078850 | |||||||
chr2:189078850 | G | T | 1 | a0001c0001t0001g0119 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1005+213C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078850 | |||||||
chr2:189078863 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1005+200C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189078863 | |||||||
chr2:189079037 | T | G | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1005+26A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 15/53 | chr2 | 189079037 | |||||||
chr2:189079325 | G | T | 1 | a0001c0001t0001g0050 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.961-218C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079325 | |||||||
chr2:189079331 | C | T | 2 | a0001c0001t0004g0005 a0010c0024t0004g0063 |
2 | HG02451.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.961-224G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079331 | |||||||
chr2:189079441 | A | G | 4 | a0001c0001t0003g0152 a0001c0001t0003g0224 a0001c0001t0003g0225 others(1): Show |
4 | HG02109.hp1 HG03098.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.961-334T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079441 | |||||||
chr2:189079491 | A | T | 1 | a0001c0001t0013g0011 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.961-384T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079491 | |||||||
chr2:189079605 | G | A | 50 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(47): Show |
50 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(47): Show |
intron_variant | MODIFIER | c.960+373C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079605 | |||||||
chr2:189079720 | T | C | 1 | a0001c0001t0003g0181 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.960+258A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079720 | |||||||
chr2:189079750 | C | T | 12 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 others(9): Show |
12 | HG01069.hp1 HG01081.hp2 HG01192.hp2 others(9): Show |
intron_variant | MODIFIER | c.960+228G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079750 | |||||||
chr2:189079869 | T | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.960+109A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079869 | |||||||
chr2:189079943 | A | G | 1 | a0001c0001t0001g0094 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.960+35T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 14/53 | chr2 | 189079943 | |||||||
chr2:189080172 | T | C | 1 | a0001c0001t0001g0133 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.907-141A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080172 | |||||||
chr2:189080363 | TATC | T | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.907-335_907-333del others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080363 | |||||||
chr2:189080508 | T | TGATA | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.906+478_907-478dup others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080508 | |||||||
chr2:189080546 | C | T | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.906+444G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080546 | |||||||
chr2:189080675 | T | C | 1 | a0001c0001t0001g0104 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.906+315A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080675 | |||||||
chr2:189080687 | C | T | 5 | a0001c0001t0004g0043 a0001c0001t0004g0079 a0001c0001t0004g0149 others(2): Show |
5 | HG00280.hp1 HG01975.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.906+303G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080687 | |||||||
chr2:189080688 | G | A | 112 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(109): Show |
112 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.906+302C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080688 | |||||||
chr2:189080812 | T | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.906+178A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080812 | |||||||
chr2:189080900 | A | G | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.906+90T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080900 | |||||||
chr2:189080928 | T | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.906+62A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080928 | |||||||
chr2:189080962 | T | C | 2 | a0001c0001t0004g0149 a0001c0001t0004g0221 |
2 | HG00280.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.906+28A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 13/53 | chr2 | 189080962 | |||||||
chr2:189081132 | A | G | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.853-89T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081132 | |||||||
chr2:189081189 | T | C | 1 | a0002c0006t0017g0136 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.853-146A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081189 | |||||||
chr2:189081316 | A | G | 1 | a0001c0001t0001g0119 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.853-273T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081316 | |||||||
chr2:189081340 | T | C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.853-297A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081340 | |||||||
chr2:189081408 | T | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-365A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081408 | |||||||
chr2:189081481 | T | C | 1 | a0015c0017t0006g0034 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.853-438A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081481 | |||||||
chr2:189081496 | C | A | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.853-453G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081496 | |||||||
chr2:189081610 | GA | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-568delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081610 | |||||||
chr2:189081614 | A | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-571T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081614 | |||||||
chr2:189081792 | T | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-749A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081792 | |||||||
chr2:189081812 | C | T | 156 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.853-769G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081812 | |||||||
chr2:189081982 | G | A | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.853-939C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189081982 | |||||||
chr2:189082072 | C | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-1029G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082072 | |||||||
chr2:189082259 | A | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.853-1216T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082259 | |||||||
chr2:189082270 | T | C | 31 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(28): Show |
31 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(28): Show |
intron_variant | MODIFIER | c.853-1227A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082270 | |||||||
chr2:189082285 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.853-1242C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082285 | |||||||
chr2:189082310 | A | T | 1 | a0001c0001t0001g0091 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.853-1267T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082310 | |||||||
chr2:189082532 | G | A | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.852+1452C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082532 | |||||||
chr2:189082723 | C | T | 4 | a0001c0001t0001g0056 a0001c0001t0001g0146 a0001c0001t0001g0147 others(1): Show |
4 | HG02630.hp2 HG03453.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.852+1261G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082723 | |||||||
chr2:189082986 | TA | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+997delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189082986 | |||||||
chr2:189083088 | C | T | 216 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(213): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
intron_variant | MODIFIER | c.852+896G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083088 | |||||||
chr2:189083122 | T | C | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.852+862A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083122 | |||||||
chr2:189083192 | A | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+792T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083192 | |||||||
chr2:189083211 | A | G | 1 | a0001c0001t0007g0054 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.852+773T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083211 | |||||||
chr2:189083239 | C | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+745G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083239 | |||||||
chr2:189083273 | A | C | 2 | a0001c0001t0001g0122 a0007c0020t0001g0123 |
2 | HG00408.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.852+711T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083273 | |||||||
chr2:189083351 | G | C | 2 | a0006c0011t0001g0075 a0006c0011t0001g0078 |
2 | NA18975.hp2 NA19076.hp1 |
intron_variant | MODIFIER | c.852+633C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083351 | |||||||
chr2:189083507 | A | G | 1 | a0001c0004t0001g0164 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.852+477T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083507 | |||||||
chr2:189083541 | C | T | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.852+443G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083541 | |||||||
chr2:189083576 | T | C | 2 | a0001c0001t0004g0005 a0010c0024t0004g0063 |
2 | HG02451.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.852+408A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083576 | |||||||
chr2:189083606 | G | T | 1 | a0001c0001t0001g0100 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.852+378C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083606 | |||||||
chr2:189083674 | GA | G | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(43): Show |
intron_variant | MODIFIER | c.852+309delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083674 | |||||||
chr2:189083734 | C | T | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.852+250G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083734 | |||||||
chr2:189083823 | T | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+161A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083823 | |||||||
chr2:189083835 | T | C | 6 | a0001c0002t0002g0090 a0001c0002t0002g0138 a0001c0002t0002g0139 others(3): Show |
6 | HG03834.hp1 NA18942.hp2 NA18984.hp1 others(3): Show |
intron_variant | MODIFIER | c.852+149A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083835 | |||||||
chr2:189083925 | G | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+59C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083925 | |||||||
chr2:189083970 | G | A | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.852+14C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 12/53 | chr2 | 189083970 | |||||||
chr2:189084327 | T | A | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.799-290A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084327 | |||||||
chr2:189084441 | T | C | 8 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(5): Show |
8 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(5): Show |
intron_variant | MODIFIER | c.799-404A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084441 | |||||||
chr2:189084453 | G | T | 7 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0023g0009 others(4): Show |
7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.799-416C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084453 | |||||||
chr2:189084463 | T | C | 156 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(153): Show |
156 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.799-426A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084463 | |||||||
chr2:189084483 | T | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.799-446A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084483 | |||||||
chr2:189084551 | G | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.799-514C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084551 | |||||||
chr2:189084663 | T | C | 7 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0023g0009 others(4): Show |
7 | HG02630.hp2 HG03453.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.798+497A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084663 | |||||||
chr2:189084664 | G | A | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.798+496C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084664 | |||||||
chr2:189084701 | T | C | 1 | a0001c0001t0013g0011 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.798+459A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084701 | |||||||
chr2:189084752 | T | C | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.798+408A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084752 | |||||||
chr2:189084772 | C | T | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(43): Show |
intron_variant | MODIFIER | c.798+388G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084772 | |||||||
chr2:189084874 | T | C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.798+286A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084874 | |||||||
chr2:189084902 | A | G | 10 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(7): Show |
10 | HG01884.hp1 HG02145.hp1 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.798+258T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084902 | |||||||
chr2:189084932 | G | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.798+228C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084932 | |||||||
chr2:189084976 | G | A | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.798+184C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189084976 | |||||||
chr2:189085033 | C | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.798+127G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189085033 | |||||||
chr2:189085060 | T | A | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.798+100A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189085060 | |||||||
chr2:189085061 | G | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.798+99C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189085061 | |||||||
chr2:189085117 | G | A | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.798+43C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 11/53 | chr2 | 189085117 | |||||||
chr2:189085226 | C | T | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.745-13G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085226 | |||||||
chr2:189085264 | C | T | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.745-51G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085264 | |||||||
chr2:189085343 | G | A | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.745-130C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085343 | |||||||
chr2:189085352 | G | A | 1 | a0001c0004t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.745-139C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085352 | |||||||
chr2:189085484 | C | A | 1 | a0001c0004t0021g0134 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.744+235G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085484 | |||||||
chr2:189085561 | T | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.744+158A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085561 | |||||||
chr2:189085579 | C | T | 1 | a0001c0001t0001g0073 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.744+140G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085579 | |||||||
chr2:189085581 | T | C | 2 | a0001c0003t0011g0167 a0001c0003t0011g0168 |
2 | HG01106.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.744+138A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 10/53 | chr2 | 189085581 | |||||||
chr2:189085830 | G | A | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.691-58C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189085830 | |||||||
chr2:189085978 | T | C | 5 | a0001c0003t0001g0174 a0001c0003t0001g0200 a0001c0003t0001g0201 others(2): Show |
5 | NA18940.hp2 NA18953.hp2 NA18975.hp1 others(2): Show |
intron_variant | MODIFIER | c.691-206A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189085978 | |||||||
chr2:189086031 | C | CAG | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.691-261_691-260dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086031 | |||||||
chr2:189086145 | C | T | 48 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(45): Show |
48 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.691-373G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086145 | |||||||
chr2:189086199 | T | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.691-427A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086199 | |||||||
chr2:189086215 | G | C | 1 | a0001c0004t0001g0211 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.691-443C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086215 | |||||||
chr2:189086253 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.690+473A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086253 | |||||||
chr2:189086278 | A | G | 12 | a0001c0002t0002g0016 a0001c0002t0002g0026 a0001c0002t0002g0048 others(9): Show |
12 | HG01106.hp2 HG02293.hp1 HG03688.hp1 others(9): Show |
intron_variant | MODIFIER | c.690+448T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086278 | |||||||
chr2:189086279 | T | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.690+447A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086279 | |||||||
chr2:189086366 | C | T | 27 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(24): Show |
27 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(24): Show |
intron_variant | MODIFIER | c.690+360G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086366 | |||||||
chr2:189086429 | A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.690+297T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086429 | |||||||
chr2:189086557 | T | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(42): Show |
45 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(42): Show |
intron_variant | MODIFIER | c.690+169A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086557 | |||||||
chr2:189086686 | G | A | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.690+40C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086686 | |||||||
chr2:189086698 | G | A | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.690+28C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 9/53 | chr2 | 189086698 | |||||||
chr2:189087026 | T | C | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.646-256A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087026 | |||||||
chr2:189087104 | T | A | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.646-334A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087104 | |||||||
chr2:189087170 | T | TTAGA | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-401_646-400ins others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087170 | |||||||
chr2:189087247 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-477A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087247 | |||||||
chr2:189087340 | C | A | 1 | a0001c0003t0001g0187 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.646-570G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087340 | |||||||
chr2:189087498 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.646-728G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087498 | |||||||
chr2:189087598 | A | G | 214 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(211): Show |
218 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(215): Show |
intron_variant | MODIFIER | c.646-828T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087598 | |||||||
chr2:189087629 | AT | A | 62 | a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0061 others(59): Show |
63 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(60): Show |
intron_variant | MODIFIER | c.646-860delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087629 | |||||||
chr2:189087629 | ATT | A | 42 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.646-861_646-860del others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087629 | |||||||
chr2:189087658 | A | G | 46 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(43): Show |
46 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.646-888T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087658 | |||||||
chr2:189087676 | C | T | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.646-906G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087676 | |||||||
chr2:189087693 | TCCTGACC others(5): Show |
T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-935_646-924del others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087693 | |||||||
chr2:189087706 | A | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-936T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087706 | |||||||
chr2:189087718 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.646-948A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087718 | |||||||
chr2:189087747 | G | A | 3 | a0001c0012t0010g0040 a0001c0012t0010g0126 a0001c0026t0015g0003 |
3 | HG01069.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.645+948C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087747 | |||||||
chr2:189087842 | T | TA | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.645+852dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087842 | |||||||
chr2:189087842 | T | TAAA | 40 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(37): Show |
40 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(37): Show |
intron_variant | MODIFIER | c.645+850_645+852dup others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087842 | |||||||
chr2:189087888 | C | T | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.645+807G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087888 | |||||||
chr2:189087906 | G | A | 154 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(151): Show |
154 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.645+789C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087906 | |||||||
chr2:189087985 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.645+710G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189087985 | |||||||
chr2:189088001 | GGATAGAA others(15): Show |
G | 1 | a0001c0001t0004g0079 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.645+672_645+693del others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088001 | |||||||
chr2:189088086 | T | C | 1 | a0001c0001t0001g0077 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.645+609A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088086 | |||||||
chr2:189088149 | G | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.645+546C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088149 | |||||||
chr2:189088236 | C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.645+459G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088236 | |||||||
chr2:189088255 | T | C | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.645+440A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088255 | |||||||
chr2:189088528 | A | G | 1 | a0001c0001t0001g0061 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.645+167T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088528 | |||||||
chr2:189088559 | A | AAATG | 154 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(151): Show |
154 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.645+132_645+135dup others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088559 | |||||||
chr2:189088583 | G | A | 4 | a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 others(1): Show |
4 | NA18960.hp1 NA18965.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.645+112C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088583 | |||||||
chr2:189088587 | G | A | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.645+108C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 8/53 | chr2 | 189088587 | |||||||
chr2:189088782 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.568-10G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088782 | |||||||
chr2:189088825 | G | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.568-53C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088825 | |||||||
chr2:189088902 | G | T | 1 | a0001c0001t0001g0117 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.568-130C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088902 | |||||||
chr2:189088934 | TTTGA | T | 3 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0013c0015t0001g0108 |
3 | HG01517.hp2 HG03654.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.568-166_568-163del others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088934 | |||||||
chr2:189088953 | T | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.568-181A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189088953 | |||||||
chr2:189089032 | T | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.568-260A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089032 | |||||||
chr2:189089043 | A | ATGGAT | 37 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(34): Show |
37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.568-276_568-272dup others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089043 | |||||||
chr2:189089234 | C | A | 39 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(36): Show |
39 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(36): Show |
intron_variant | MODIFIER | c.568-462G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089234 | |||||||
chr2:189089278 | T | C | 20 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(17): Show |
21 | HG01433.hp1 HG01884.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.568-506A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089278 | |||||||
chr2:189089501 | T | C | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.568-729A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089501 | |||||||
chr2:189089515 | A | G | 1 | a0001c0002t0002g0028 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.568-743T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089515 | |||||||
chr2:189089556 | T | A | 3 | a0001c0012t0010g0040 a0001c0012t0010g0126 a0001c0026t0015g0003 |
3 | HG01069.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.568-784A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089556 | |||||||
chr2:189089647 | C | G | 2 | a0001c0002t0002g0029 a0001c0002t0002g0037 |
2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.568-875G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089647 | |||||||
chr2:189089765 | T | C | 28 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0002t0002g0016 others(25): Show |
28 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(25): Show |
intron_variant | MODIFIER | c.568-993A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089765 | |||||||
chr2:189089777 | G | A | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.568-1005C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089777 | |||||||
chr2:189089924 | A | T | 1 | a0001c0001t0001g0097 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.568-1152T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089924 | |||||||
chr2:189089944 | TCAATTAA others(3): Show |
T | 1 | a0004c0009t0001g0019 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.568-1182_568-1173d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189089944 | |||||||
chr2:189090357 | G | A | 1 | a0001c0002t0002g0238 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.568-1585C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090357 | |||||||
chr2:189090400 | A | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.568-1628T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090400 | |||||||
chr2:189090479 | G | A | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.568-1707C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090479 | |||||||
chr2:189090529 | T | C | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.568-1757A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090529 | |||||||
chr2:189090620 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+1690A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090620 | |||||||
chr2:189090818 | C | A | 1 | a0005c0013t0001g0114 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.567+1492G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090818 | |||||||
chr2:189090838 | G | A | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.567+1472C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090838 | |||||||
chr2:189090958 | G | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+1352C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090958 | |||||||
chr2:189090967 | T | C | 1 | a0001c0001t0004g0149 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.567+1343A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090967 | |||||||
chr2:189090968 | A | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+1342T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189090968 | |||||||
chr2:189091404 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+906A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091404 | |||||||
chr2:189091496 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+814A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091496 | |||||||
chr2:189091603 | C | A | 3 | a0001c0012t0010g0040 a0001c0012t0010g0126 a0001c0026t0015g0003 |
3 | HG01069.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.567+707G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091603 | |||||||
chr2:189091645 | A | T | 1 | a0001c0001t0001g0014 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.567+665T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091645 | |||||||
chr2:189091784 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+526A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091784 | |||||||
chr2:189091849 | A | G | 1 | a0001c0001t0001g0091 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.567+461T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189091849 | |||||||
chr2:189092035 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.567+275A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189092035 | |||||||
chr2:189092128 | C | A | 42 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.567+182G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189092128 | |||||||
chr2:189092141 | A | T | 1 | a0001c0001t0001g0077 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.567+169T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | 189092141 | |||||||
chr2:189092479 | C | T | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.457-59G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092479 | |||||||
chr2:189092745 | G | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-325C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092745 | |||||||
chr2:189092829 | A | G | 1 | a0001c0001t0008g0220 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.457-409T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092829 | |||||||
chr2:189092944 | C | T | 5 | a0001c0001t0004g0043 a0001c0001t0004g0079 a0001c0001t0004g0149 others(2): Show |
5 | HG00280.hp1 HG01975.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.457-524G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092944 | |||||||
chr2:189092963 | A | G | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.457-543T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189092963 | |||||||
chr2:189093023 | A | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-603T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093023 | |||||||
chr2:189093077 | T | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-657A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093077 | |||||||
chr2:189093084 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-664G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093084 | |||||||
chr2:189093156 | C | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.457-736G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093156 | |||||||
chr2:189093251 | T | C | 2 | a0001c0003t0001g0200 a0001c0003t0001g0206 |
2 | NA18953.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.457-831A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093251 | |||||||
chr2:189093324 | T | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-904A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093324 | |||||||
chr2:189093350 | G | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-930C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093350 | |||||||
chr2:189093407 | G | T | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.457-987C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093407 | |||||||
chr2:189093446 | A | C | 2 | a0001c0001t0001g0073 a0001c0001t0001g0083 |
2 | HG01516.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.457-1026T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093446 | |||||||
chr2:189093456 | G | A | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-1036C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093456 | |||||||
chr2:189093474 | G | C | 10 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(7): Show |
10 | HG01884.hp1 HG02145.hp1 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.457-1054C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093474 | |||||||
chr2:189093479 | A | C | 1 | a0001c0002t0009g0160 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.457-1059T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093479 | |||||||
chr2:189093528 | T | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.457-1108A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093528 | |||||||
chr2:189093565 | A | C | 1 | a0001c0001t0003g0232 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.457-1145T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093565 | |||||||
chr2:189093622 | A | G | 98 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
intron_variant | MODIFIER | c.457-1202T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189093622 | |||||||
chr2:189094025 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-1605A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094025 | |||||||
chr2:189094118 | C | T | 1 | a0001c0001t0001g0069 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.457-1698G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094118 | |||||||
chr2:189094183 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-1763G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094183 | |||||||
chr2:189094361 | G | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.457-1941C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094361 | |||||||
chr2:189094366 | C | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-1946G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094366 | |||||||
chr2:189094478 | G | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-2058C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094478 | |||||||
chr2:189094532 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.457-2112G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094532 | |||||||
chr2:189094535 | G | A | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.457-2115C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094535 | |||||||
chr2:189094542 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.457-2122A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094542 | |||||||
chr2:189094588 | G | GAC | 9 | a0001c0001t0001g0052 a0001c0001t0003g0152 a0001c0001t0004g0079 others(6): Show |
10 | HG01884.hp2 HG02055.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.457-2170_457-2169d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACAC | 8 | a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0008g0220 others(5): Show |
8 | HG01081.hp2 HG02109.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.457-2172_457-2169d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACAC | 12 | a0001c0001t0003g0226 a0001c0001t0025g0243 a0001c0002t0002g0026 others(9): Show |
12 | HG01192.hp2 HG02258.hp2 HG02293.hp1 others(9): Show |
intron_variant | MODIFIER | c.457-2174_457-2169d others(8): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(1): Show |
7 | a0001c0001t0001g0030 a0001c0001t0003g0185 a0001c0002t0002g0036 others(4): Show |
7 | HG00597.hp1 HG04228.hp1 NA18969.hp2 others(4): Show |
intron_variant | MODIFIER | c.457-2176_457-2169d others(10): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(3): Show |
12 | a0001c0001t0001g0105 a0001c0001t0003g0177 a0001c0001t0008g0240 others(9): Show |
12 | HG01069.hp1 HG01106.hp1 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.457-2178_457-2169d others(12): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(5): Show |
5 | a0001c0001t0003g0135 a0001c0001t0003g0184 a0001c0001t0003g0232 others(2): Show |
5 | HG01255.hp1 HG01978.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-2180_457-2169d others(14): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(7): Show |
19 | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0133 others(16): Show |
19 | HG00408.hp1 HG00423.hp2 HG01167.hp2 others(16): Show |
intron_variant | MODIFIER | c.457-2182_457-2169d others(16): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(9): Show |
14 | a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0003g0178 others(11): Show |
14 | HG00609.hp2 HG02293.hp2 HG03688.hp1 others(11): Show |
intron_variant | MODIFIER | c.457-2184_457-2169d others(18): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(11): Show |
6 | a0001c0001t0003g0045 a0001c0001t0003g0127 a0001c0001t0003g0128 others(3): Show |
6 | HG01106.hp2 HG01257.hp1 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-2186_457-2169d others(20): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(13): Show |
3 | a0001c0001t0001g0122 a0001c0001t0001g0137 a0014c0022t0002g0035 |
3 | HG03834.hp2 NA18612.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.457-2188_457-2169d others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(15): Show |
5 | a0001c0001t0003g0180 a0001c0001t0023g0009 a0001c0003t0001g0202 others(2): Show |
5 | HG01981.hp1 HG04199.hp1 NA18984.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-2190_457-2169d others(24): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(17): Show |
1 | a0001c0001t0001g0103 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.457-2192_457-2169d others(26): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(21): Show |
9 | a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0065 others(6): Show |
9 | HG00099.hp1 HG00099.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.457-2196_457-2169d others(30): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(23): Show |
5 | a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0007t0005g0006 others(2): Show |
5 | HG01517.hp2 HG02258.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.457-2198_457-2169d others(32): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(25): Show |
6 | a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0001g0062 others(3): Show |
6 | HG00408.hp2 HG01192.hp1 HG02056.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-2200_457-2169d others(34): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(27): Show |
4 | a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0085 others(1): Show |
4 | HG03041.hp2 HG03688.hp2 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-2202_457-2169d others(36): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(29): Show |
13 | a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0082 others(10): Show |
13 | HG01081.hp1 HG01255.hp2 HG01261.hp2 others(10): Show |
intron_variant | MODIFIER | c.457-2204_457-2169d others(38): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(31): Show |
9 | a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0097 others(6): Show |
9 | HG00597.hp2 HG01069.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.457-2206_457-2169d others(40): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(33): Show |
9 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0032 others(6): Show |
9 | HG00423.hp1 HG01258.hp1 HG01516.hp2 others(6): Show |
intron_variant | MODIFIER | c.457-2208_457-2169d others(42): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(35): Show |
9 | a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0088 others(6): Show |
9 | HG00280.hp2 HG00621.hp1 HG02165.hp2 others(6): Show |
intron_variant | MODIFIER | c.457-2210_457-2169d others(44): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(37): Show |
10 | a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0055 others(7): Show |
10 | HG00609.hp1 HG01978.hp2 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.457-2212_457-2169d others(46): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(39): Show |
4 | a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0111 others(1): Show |
4 | HG02683.hp1 NA18941.hp2 NA18961.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-2214_457-2169d others(48): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(41): Show |
4 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0002t0002g0057 others(1): Show |
4 | HG03831.hp2 NA18940.hp1 NA18992.hp2 others(1): Show |
intron_variant | MODIFIER | c.457-2216_457-2169d others(50): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(43): Show |
3 | a0001c0001t0001g0089 a0001c0001t0001g0112 a0004c0009t0001g0027 |
3 | HG01433.hp2 NA18972.hp2 NA19006.hp2 |
intron_variant | MODIFIER | c.457-2218_457-2169d others(52): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(45): Show |
5 | a0001c0001t0001g0042 a0001c0001t0001g0071 a0001c0001t0001g0086 others(2): Show |
5 | HG00621.hp2 HG02074.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-2220_457-2169d others(54): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(47): Show |
1 | a0001c0001t0001g0093 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.457-2222_457-2169d others(56): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(51): Show |
2 | a0001c0001t0001g0208 a0003c0014t0001g0120 |
2 | HG01169.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.457-2226_457-2169d others(60): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(53): Show |
1 | a0001c0001t0001g0233 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.457-2169_457-2168i others(62): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | G | GACACACA others(55): Show |
2 | a0001c0001t0001g0047 a0001c0001t0001g0098 |
2 | HG01167.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.457-2169_457-2168i others(64): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | GAC | G | 12 | a0001c0001t0004g0005 a0001c0002t0002g0023 a0001c0003t0001g0188 others(9): Show |
12 | HG02056.hp1 HG02074.hp2 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.457-2170_457-2169d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | GACAC | G | 7 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0008g0236 others(4): Show |
7 | HG02486.hp2 HG03195.hp1 HG03453.hp1 others(4): Show |
intron_variant | MODIFIER | c.457-2172_457-2169d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | GACACAC | G | 3 | a0001c0002t0002g0021 a0001c0002t0014g0244 a0001c0004t0001g0212 |
3 | HG03942.hp1 NA18522.hp2 NA18960.hp1 |
intron_variant | MODIFIER | c.457-2174_457-2169d others(8): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | GACACACA others(1): Show |
G | 3 | a0001c0001t0004g0221 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG01975.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.457-2176_457-2169d others(10): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | GACACACA others(5): Show |
G | 1 | a0001c0001t0004g0149 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.457-2180_457-2169d others(14): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | GACACACA others(11): Show |
G | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.457-2186_457-2169d others(20): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094588 | GACACACA others(13): Show |
G | 1 | a0001c0021t0002g0142 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.457-2188_457-2169d others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094588 | |||||||
chr2:189094695 | C | CAAGAAAC others(302): Show |
1 | a0001c0001t0001g0113 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.457-2276_457-2275i others(311): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094695 | |||||||
chr2:189094695 | C | CAAGAAAC others(303): Show |
97 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(94): Show |
97 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(94): Show |
intron_variant | MODIFIER | c.457-2276_457-2275i others(312): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094695 | |||||||
chr2:189094749 | C | A | 1 | a0001c0001t0001g0067 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.457-2329G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094749 | |||||||
chr2:189094997 | C | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.456+2280G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189094997 | |||||||
chr2:189095155 | T | TG | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+2121dupC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095155 | |||||||
chr2:189095221 | G | A | 39 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(36): Show |
39 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(36): Show |
intron_variant | MODIFIER | c.456+2056C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095221 | |||||||
chr2:189095439 | T | C | 3 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 |
3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.456+1838A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095439 | |||||||
chr2:189095492 | GCT | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.456+1783_456+1784d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095492 | |||||||
chr2:189095531 | A | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+1746T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095531 | |||||||
chr2:189095603 | A | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+1674T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095603 | |||||||
chr2:189095779 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.456+1498G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095779 | |||||||
chr2:189095833 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+1444A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095833 | |||||||
chr2:189095844 | G | C | 44 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(41): Show |
44 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.456+1433C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095844 | |||||||
chr2:189095904 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.456+1373G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095904 | |||||||
chr2:189095967 | TG | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+1309delC | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189095967 | |||||||
chr2:189096305 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+972G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096305 | |||||||
chr2:189096361 | A | G | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.456+916T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096361 | |||||||
chr2:189096413 | G | A | 1 | a0001c0001t0001g0097 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.456+864C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096413 | |||||||
chr2:189096437 | C | T | 6 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(3): Show |
6 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(3): Show |
intron_variant | MODIFIER | c.456+840G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096437 | |||||||
chr2:189096445 | A | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+832T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096445 | |||||||
chr2:189096499 | G | C | 1 | a0001c0003t0001g0207 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.456+778C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096499 | |||||||
chr2:189096518 | A | G | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.456+759T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096518 | |||||||
chr2:189096529 | G | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+748C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096529 | |||||||
chr2:189096621 | C | CA | 40 | a0001c0001t0001g0044 a0001c0001t0001g0085 a0001c0001t0001g0113 others(37): Show |
40 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.456+655dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096621 | |||||||
chr2:189096621 | C | CAAA | 38 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(35): Show |
38 | HG00280.hp1 HG01106.hp2 HG01192.hp2 others(35): Show |
intron_variant | MODIFIER | c.456+653_456+655dup others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096621 | |||||||
chr2:189096866 | G | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+411C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189096866 | |||||||
chr2:189097045 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.456+232G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | 189097045 | |||||||
chr2:189097346 | A | T | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.403-16T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097346 | |||||||
chr2:189097372 | T | C | 37 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(34): Show |
37 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.403-42A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097372 | |||||||
chr2:189097473 | A | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.403-143T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097473 | |||||||
chr2:189097580 | G | C | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.403-250C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097580 | |||||||
chr2:189097622 | G | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.403-292C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097622 | |||||||
chr2:189097634 | C | T | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.403-304G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097634 | |||||||
chr2:189097832 | T | G | 42 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.403-502A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097832 | |||||||
chr2:189097916 | T | C | 1 | a0001c0002t0002g0026 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.403-586A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097916 | |||||||
chr2:189097918 | T | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.403-588A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097918 | |||||||
chr2:189097976 | A | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.403-646T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189097976 | |||||||
chr2:189098004 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.403-674C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098004 | |||||||
chr2:189098032 | T | TCCCC | 3 | a0001c0001t0004g0005 a0001c0001t0004g0079 a0009c0023t0004g0051 |
3 | HG02258.hp2 HG02630.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.402+694_402+695ins others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098032 | |||||||
chr2:189098033 | T | C | 5 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(2): Show |
5 | HG02258.hp2 HG02451.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.402+694A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098033 | |||||||
chr2:189098033 | T | TCC | 23 | a0001c0001t0001g0030 a0001c0002t0002g0016 a0001c0002t0002g0024 others(20): Show |
23 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(20): Show |
intron_variant | MODIFIER | c.402+693_402+694ins others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098033 | |||||||
chr2:189098033 | T | TCCC | 9 | a0001c0001t0001g0162 a0001c0001t0004g0149 a0001c0001t0004g0192 others(6): Show |
9 | HG00280.hp1 HG01192.hp2 HG01975.hp1 others(6): Show |
intron_variant | MODIFIER | c.402+693_402+694ins others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098033 | |||||||
chr2:189098034 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.402+693A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098034 | |||||||
chr2:189098035 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.402+692A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098035 | |||||||
chr2:189098043 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.402+684A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098043 | |||||||
chr2:189098051 | G | A | 1 | a0001c0001t0003g0182 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.402+676C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098051 | |||||||
chr2:189098196 | A | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.402+531T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098196 | |||||||
chr2:189098390 | C | T | 1 | a0001c0001t0001g0105 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.402+337G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098390 | |||||||
chr2:189098563 | C | T | 1 | a0012c0029t0001g0235 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.402+164G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 5/53 | chr2 | 189098563 | |||||||
chr2:189098775 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0098 |
2 | HG01167.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.370-16C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189098775 | |||||||
chr2:189099060 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.370-301G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099060 | |||||||
chr2:189099075 | T | C | 1 | a0001c0001t0001g0049 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.370-316A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099075 | |||||||
chr2:189099268 | T | TA | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.370-510dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099268 | |||||||
chr2:189099407 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.370-648A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099407 | |||||||
chr2:189099500 | C | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.369+607G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099500 | |||||||
chr2:189099653 | C | A | 1 | a0001c0001t0007g0054 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.369+454G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099653 | |||||||
chr2:189099663 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.369+444G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099663 | |||||||
chr2:189099669 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.369+438A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099669 | |||||||
chr2:189099699 | A | G | 1 | a0012c0029t0001g0235 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.369+408T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099699 | |||||||
chr2:189099940 | T | A | 4 | a0001c0001t0003g0152 a0001c0001t0003g0224 a0001c0001t0003g0225 others(1): Show |
4 | HG02109.hp1 HG03098.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.369+167A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189099940 | |||||||
chr2:189100021 | G | T | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.369+86C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189100021 | |||||||
chr2:189100027 | A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.369+80T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 4/53 | chr2 | 189100027 | |||||||
chr2:189100165 | A | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.337-26T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100165 | |||||||
chr2:189100244 | T | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.337-105A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100244 | |||||||
chr2:189100291 | G | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.337-152C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100291 | |||||||
chr2:189100344 | T | TA | 3 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0124 |
6 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.337-206dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100344 | |||||||
chr2:189100449 | T | C | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.337-310A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100449 | |||||||
chr2:189100494 | C | T | 1 | a0001c0001t0001g0089 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.337-355G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100494 | |||||||
chr2:189100606 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.337-467A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189100606 | |||||||
chr2:189101054 | T | A | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.337-915A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101054 | |||||||
chr2:189101094 | A | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.337-955T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101094 | |||||||
chr2:189101162 | A | G | 1 | a0001c0001t0001g0146 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.337-1023T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101162 | |||||||
chr2:189101330 | T | A | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.337-1191A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101330 | |||||||
chr2:189101500 | T | C | 4 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0093 others(1): Show |
4 | HG00621.hp2 HG01975.hp2 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.337-1361A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101500 | |||||||
chr2:189101537 | T | A | 1 | a0001c0003t0001g0187 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.337-1398A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101537 | |||||||
chr2:189101628 | A | T | 20 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(17): Show |
21 | HG01433.hp1 HG01884.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.337-1489T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101628 | |||||||
chr2:189101740 | T | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.337-1601A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101740 | |||||||
chr2:189101758 | T | C | 29 | a0001c0001t0001g0030 a0001c0002t0002g0016 a0001c0002t0002g0020 others(26): Show |
29 | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(26): Show |
intron_variant | MODIFIER | c.337-1619A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101758 | |||||||
chr2:189101765 | A | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.337-1626T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101765 | |||||||
chr2:189101842 | T | C | 3 | a0001c0002t0009g0143 a0001c0002t0009g0160 a0001c0002t0009g0161 |
3 | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.337-1703A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101842 | |||||||
chr2:189101982 | T | C | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.337-1843A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189101982 | |||||||
chr2:189102081 | T | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.337-1942A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102081 | |||||||
chr2:189102517 | C | T | 1 | a0001c0001t0001g0103 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.336+1747G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102517 | |||||||
chr2:189102707 | T | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1557A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102707 | |||||||
chr2:189102730 | A | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1534T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102730 | |||||||
chr2:189102740 | G | A | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1524C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102740 | |||||||
chr2:189102770 | C | T | 2 | a0001c0002t0020g0038 a0014c0022t0002g0035 |
2 | NA18612.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.336+1494G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102770 | |||||||
chr2:189102802 | G | T | 38 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0001g0162 others(35): Show |
38 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.336+1462C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102802 | |||||||
chr2:189102910 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.336+1354G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102910 | |||||||
chr2:189102976 | G | A | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1288C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102976 | |||||||
chr2:189102978 | G | A | 26 | a0001c0003t0001g0150 a0001c0003t0001g0163 a0001c0003t0001g0174 others(23): Show |
26 | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(23): Show |
intron_variant | MODIFIER | c.336+1286C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189102978 | |||||||
chr2:189103074 | A | G | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.336+1190T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103074 | |||||||
chr2:189103108 | CTCTA | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+1152_336+1155d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103108 | |||||||
chr2:189103221 | C | T | 1 | a0001c0001t0003g0209 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.336+1043G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103221 | |||||||
chr2:189103385 | T | C | 3 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 |
3 | HG01192.hp2 HG04199.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.336+879A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103385 | |||||||
chr2:189103449 | G | A | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+815C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103449 | |||||||
chr2:189103493 | G | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+771C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103493 | |||||||
chr2:189103495 | C | G | 1 | a0001c0001t0001g0062 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.336+769G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103495 | |||||||
chr2:189103505 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.336+759C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103505 | |||||||
chr2:189103528 | C | T | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+736G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103528 | |||||||
chr2:189103534 | T | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+730A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103534 | |||||||
chr2:189103591 | A | T | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.336+673T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103591 | |||||||
chr2:189103621 | G | A | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+643C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103621 | |||||||
chr2:189103626 | C | G | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+638G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103626 | |||||||
chr2:189103853 | G | A | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+411C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103853 | |||||||
chr2:189103924 | C | T | 38 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(35): Show |
38 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(35): Show |
intron_variant | MODIFIER | c.336+340G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189103924 | |||||||
chr2:189104048 | T | C | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.336+216A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189104048 | |||||||
chr2:189104082 | TA | T | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.336+181delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189104082 | |||||||
chr2:189104124 | C | T | 1 | a0001c0001t0001g0080 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.336+140G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 3/53 | chr2 | 189104124 | |||||||
chr2:189104348 | T | C | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.323-71A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104348 | |||||||
chr2:189104408 | G | T | 1 | a0001c0001t0001g0162 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.323-131C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104408 | |||||||
chr2:189104666 | A | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.323-389T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104666 | |||||||
chr2:189104732 | C | G | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.323-455G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104732 | |||||||
chr2:189104863 | T | A | 216 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(213): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
intron_variant | MODIFIER | c.323-586A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104863 | |||||||
chr2:189104881 | T | A | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.323-604A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189104881 | |||||||
chr2:189105080 | T | C | 1 | a0001c0004t0001g0217 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.323-803A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105080 | |||||||
chr2:189105127 | A | G | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.323-850T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105127 | |||||||
chr2:189105193 | T | A | 43 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.323-916A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105193 | |||||||
chr2:189105269 | T | C | 1 | a0010c0024t0004g0063 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.323-992A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105269 | |||||||
chr2:189105289 | C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.323-1012G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105289 | |||||||
chr2:189105693 | T | C | 5 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(2): Show |
5 | HG01257.hp1 HG01258.hp2 HG01943.hp2 others(2): Show |
intron_variant | MODIFIER | c.323-1416A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105693 | |||||||
chr2:189105845 | T | C | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.323-1568A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105845 | |||||||
chr2:189105894 | G | T | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.323-1617C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105894 | |||||||
chr2:189105928 | C | A | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.323-1651G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105928 | |||||||
chr2:189105957 | C | T | 1 | a0001c0004t0001g0176 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.323-1680G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189105957 | |||||||
chr2:189106267 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.323-1990G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106267 | |||||||
chr2:189106314 | G | C | 89 | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0052 others(86): Show |
93 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.323-2037C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106314 | |||||||
chr2:189106530 | T | C | 20 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(17): Show |
21 | HG01433.hp1 HG01884.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.323-2253A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106530 | |||||||
chr2:189106570 | G | T | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.323-2293C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106570 | |||||||
chr2:189106572 | G | T | 43 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.323-2295C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106572 | |||||||
chr2:189106717 | TTTAAG | T | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.323-2445_323-2441d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106717 | |||||||
chr2:189106772 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.323-2495A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189106772 | |||||||
chr2:189107120 | A | G | 38 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0001g0162 others(35): Show |
38 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.323-2843T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107120 | |||||||
chr2:189107144 | A | G | 1 | a0001c0001t0003g0165 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.323-2867T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107144 | |||||||
chr2:189107147 | T | C | 1 | a0001c0001t0001g0100 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.323-2870A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107147 | |||||||
chr2:189107508 | C | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.322+2717G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107508 | |||||||
chr2:189107716 | CTTTG | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.322+2505_322+2508d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107716 | |||||||
chr2:189107756 | T | G | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.322+2469A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189107756 | |||||||
chr2:189108220 | A | G | 8 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0007t0005g0006 others(5): Show |
8 | HG02630.hp2 HG02895.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.322+2005T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108220 | |||||||
chr2:189108263 | C | T | 8 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0007t0005g0006 others(5): Show |
8 | HG02630.hp2 HG02895.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.322+1962G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108263 | |||||||
chr2:189108325 | C | A | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.322+1900G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108325 | |||||||
chr2:189108413 | A | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.322+1812T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108413 | |||||||
chr2:189108441 | T | C | 1 | a0005c0013t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.322+1784A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108441 | |||||||
chr2:189108738 | C | T | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.322+1487G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108738 | |||||||
chr2:189108782 | A | G | 1 | a0010c0024t0004g0063 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.322+1443T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108782 | |||||||
chr2:189108857 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.322+1368G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108857 | |||||||
chr2:189108932 | T | C | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.322+1293A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108932 | |||||||
chr2:189108969 | G | GT | 41 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0001g0162 others(38): Show |
41 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(38): Show |
intron_variant | MODIFIER | c.322+1255dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108969 | |||||||
chr2:189108969 | GT | G | 108 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(105): Show |
108 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(105): Show |
intron_variant | MODIFIER | c.322+1255delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108969 | |||||||
chr2:189108969 | GTT | G | 41 | a0001c0001t0001g0030 a0001c0001t0001g0093 a0001c0001t0004g0005 others(38): Show |
41 | HG00597.hp1 HG01081.hp2 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.322+1254_322+1255d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108969 | |||||||
chr2:189108993 | G | A | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0011c0018t0012g0148 |
3 | HG02630.hp2 HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.322+1232C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189108993 | |||||||
chr2:189109207 | C | A | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.322+1018G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189109207 | |||||||
chr2:189109378 | G | C | 99 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(96): Show |
99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.322+847C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189109378 | |||||||
chr2:189109531 | T | G | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.322+694A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189109531 | |||||||
chr2:189109623 | C | G | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.322+602G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189109623 | |||||||
chr2:189110048 | G | A | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.322+177C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189110048 | |||||||
chr2:189110068 | G | A | 150 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(147): Show |
150 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show |
intron_variant | MODIFIER | c.322+157C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 2/53 | chr2 | 189110068 | |||||||
chr2:189110461 | A | C | 21 | a0001c0003t0001g0150 a0001c0003t0001g0163 a0001c0003t0001g0174 others(18): Show |
21 | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.98-12T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110461 | |||||||
chr2:189110624 | G | A | 1 | a0001c0001t0003g0231 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.98-175C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110624 | |||||||
chr2:189110680 | G | A | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-231C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110680 | |||||||
chr2:189110689 | T | A | 99 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(96): Show |
99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.98-240A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110689 | |||||||
chr2:189110997 | C | A | 1 | a0001c0001t0003g0165 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.98-548G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189110997 | |||||||
chr2:189111016 | GTAGAATT others(8): Show |
G | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-582_98-568delTC others(13): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111016 | |||||||
chr2:189111036 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-587G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111036 | |||||||
chr2:189111064 | G | T | 99 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(96): Show |
99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.98-615C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111064 | |||||||
chr2:189111206 | G | A | 1 | a0002c0006t0005g0131 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.98-757C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111206 | |||||||
chr2:189111225 | CAT | C | 41 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(38): Show |
41 | HG00280.hp1 HG00597.hp1 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.98-778_98-777delAT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111225 | |||||||
chr2:189111229 | T | C | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.98-780A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111229 | |||||||
chr2:189111232 | A | ATG | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-785_98-784dupCA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111232 | |||||||
chr2:189111232 | A | G | 100 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(97): Show |
100 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(97): Show |
intron_variant | MODIFIER | c.98-783T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111232 | |||||||
chr2:189111264 | A | G | 4 | a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show |
4 | HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.98-815T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111264 | |||||||
chr2:189111317 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-868G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111317 | |||||||
chr2:189111495 | C | T | 1 | a0001c0001t0001g0119 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.98-1046G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111495 | |||||||
chr2:189111505 | T | G | 2 | a0001c0001t0003g0165 a0001c0001t0003g0166 |
2 | HG02280.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.98-1056A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111505 | |||||||
chr2:189111555 | C | T | 5 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(2): Show |
5 | HG01884.hp1 HG02895.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.98-1106G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111555 | |||||||
chr2:189111581 | C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.98-1132G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111581 | |||||||
chr2:189111588 | T | TA | 99 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(96): Show |
99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.98-1140dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111588 | |||||||
chr2:189111777 | T | A | 3 | a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0116 |
3 | HG00423.hp1 HG00621.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.98-1328A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111777 | |||||||
chr2:189111828 | G | A | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.98-1379C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111828 | |||||||
chr2:189111863 | C | CT | 41 | a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0004g0005 others(38): Show |
41 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(38): Show |
intron_variant | MODIFIER | c.98-1415dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111863 | |||||||
chr2:189111875 | T | C | 1 | a0001c0003t0001g0202 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.98-1426A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111875 | |||||||
chr2:189111903 | T | C | 1 | a0001c0001t0001g0014 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.98-1454A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111903 | |||||||
chr2:189111917 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-1468C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189111917 | |||||||
chr2:189112037 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-1588A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112037 | |||||||
chr2:189112153 | G | A | 7 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0230 others(4): Show |
7 | HG02145.hp1 HG02630.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.98-1704C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112153 | |||||||
chr2:189112251 | C | T | 42 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(39): Show |
42 | HG00280.hp1 HG00597.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.98-1802G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112251 | |||||||
chr2:189112459 | T | C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-2010A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112459 | |||||||
chr2:189112554 | C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.98-2105G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112554 | |||||||
chr2:189112671 | T | C | 1 | a0001c0002t0002g0026 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.98-2222A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112671 | |||||||
chr2:189112738 | C | T | 99 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(96): Show |
99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.98-2289G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189112738 | |||||||
chr2:189113291 | C | T | 216 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(213): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(217): Show |
intron_variant | MODIFIER | c.98-2842G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113291 | |||||||
chr2:189113322 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.98-2873G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113322 | |||||||
chr2:189113395 | T | C | 2 | a0001c0001t0001g0092 a0001c0001t0001g0116 |
2 | HG00621.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.98-2946A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113395 | |||||||
chr2:189113570 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-3121C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113570 | |||||||
chr2:189113585 | T | C | 1 | a0001c0004t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.98-3136A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113585 | |||||||
chr2:189113766 | A | AT | 43 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.98-3318dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113766 | |||||||
chr2:189113804 | A | G | 1 | a0001c0001t0003g0182 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.98-3355T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113804 | |||||||
chr2:189113878 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-3429A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113878 | |||||||
chr2:189113933 | C | G | 1 | a0001c0001t0003g0231 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.98-3484G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113933 | |||||||
chr2:189113977 | G | A | 1 | a0001c0001t0001g0103 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.98-3528C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189113977 | |||||||
chr2:189114055 | GGTTA | G | 18 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(15): Show |
19 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.98-3610_98-3607del others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114055 | |||||||
chr2:189114121 | T | C | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.98-3672A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114121 | |||||||
chr2:189114199 | C | T | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-3750G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114199 | |||||||
chr2:189114314 | G | C | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-3865C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114314 | |||||||
chr2:189114346 | A | G | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-3897T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114346 | |||||||
chr2:189114357 | A | G | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.98-3908T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114357 | |||||||
chr2:189114456 | T | C | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-4007A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114456 | |||||||
chr2:189114601 | G | A | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-4152C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114601 | |||||||
chr2:189114630 | T | TA | 4 | a0001c0026t0015g0003 a0002c0006t0005g0131 a0002c0006t0005g0132 others(1): Show |
4 | HG01069.hp1 HG01192.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.98-4182_98-4181ins others(1): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114630 | |||||||
chr2:189114631 | T | A | 41 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0079 others(38): Show |
41 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.98-4182A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114631 | |||||||
chr2:189114631 | T | TA | 20 | a0001c0002t0009g0143 a0001c0004t0001g0002 a0001c0004t0001g0053 others(17): Show |
21 | HG01433.hp1 HG01884.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.98-4183dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114631 | |||||||
chr2:189114631 | T | TAAA | 35 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0001g0162 others(32): Show |
35 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(32): Show |
intron_variant | MODIFIER | c.98-4185_98-4183dup others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114631 | |||||||
chr2:189114631 | TA | T | 6 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(3): Show |
6 | HG01167.hp2 HG01257.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.98-4183delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114631 | |||||||
chr2:189114649 | AT | A | 10 | a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0086 others(7): Show |
10 | HG01516.hp2 HG01975.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.98-4201delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114649 | |||||||
chr2:189114650 | T | A | 131 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(128): Show |
131 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
intron_variant | MODIFIER | c.98-4201A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114650 | |||||||
chr2:189114704 | G | A | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.98-4255C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114704 | |||||||
chr2:189114776 | C | T | 43 | a0001c0001t0001g0030 a0001c0001t0004g0005 a0001c0001t0004g0043 others(40): Show |
43 | HG00280.hp1 HG00597.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.98-4327G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114776 | |||||||
chr2:189114931 | T | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.98-4482A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114931 | |||||||
chr2:189114994 | G | A | 99 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(96): Show |
99 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show |
intron_variant | MODIFIER | c.98-4545C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189114994 | |||||||
chr2:189115210 | T | C | 37 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0004g0005 others(34): Show |
37 | HG00099.hp1 HG00280.hp1 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.98-4761A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115210 | |||||||
chr2:189115407 | G | GA | 6 | a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0002t0002g0020 others(3): Show |
6 | HG02258.hp2 HG02630.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.98-4959dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115407 | |||||||
chr2:189115407 | G | GAA | 12 | a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0133 others(9): Show |
12 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.98-4960_98-4959dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115407 | |||||||
chr2:189115407 | GA | G | 60 | a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0208 others(57): Show |
60 | HG00280.hp1 HG00408.hp1 HG01106.hp1 others(57): Show |
intron_variant | MODIFIER | c.98-4959delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115407 | |||||||
chr2:189115411 | A | G | 1 | a0001c0001t0003g0227 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.98-4962T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115411 | |||||||
chr2:189115468 | G | A | 1 | a0001c0001t0004g0192 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.98-5019C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115468 | |||||||
chr2:189115575 | G | C | 6 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0004t0006g0153 others(3): Show |
6 | HG01069.hp1 HG01884.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.98-5126C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115575 | |||||||
chr2:189115763 | G | A | 1 | a0001c0001t0001g0099 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.98-5314C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115763 | |||||||
chr2:189115765 | A | G | 1 | a0001c0002t0014g0242 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.98-5316T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189115765 | |||||||
chr2:189116183 | C | T | 1 | a0001c0001t0001g0095 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.98-5734G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116183 | |||||||
chr2:189116237 | C | T | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.98-5788G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116237 | |||||||
chr2:189116294 | G | A | 2 | a0001c0001t0001g0010 a0001c0001t0023g0009 |
2 | NA19057.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.98-5845C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116294 | |||||||
chr2:189116353 | T | C | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.98-5904A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116353 | |||||||
chr2:189116486 | G | T | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-6037C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116486 | |||||||
chr2:189116702 | G | C | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-6253C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116702 | |||||||
chr2:189116793 | C | G | 1 | a0001c0001t0001g0094 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.98-6344G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189116793 | |||||||
chr2:189117007 | T | C | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-6558A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117007 | |||||||
chr2:189117112 | A | AC | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-6664_98-6663ins others(1): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117112 | |||||||
chr2:189117191 | G | A | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-6742C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117191 | |||||||
chr2:189117211 | C | A | 1 | a0001c0001t0001g0100 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.98-6762G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117211 | |||||||
chr2:189117264 | T | G | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-6815A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117264 | |||||||
chr2:189117269 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-6820A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117269 | |||||||
chr2:189117410 | A | G | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.98-6961T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117410 | |||||||
chr2:189117470 | T | C | 1 | a0001c0001t0001g0157 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.98-7021A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117470 | |||||||
chr2:189117487 | G | T | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-7038C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117487 | |||||||
chr2:189117692 | C | T | 113 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(110): Show |
117 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(114): Show |
intron_variant | MODIFIER | c.98-7243G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117692 | |||||||
chr2:189117732 | CT | C | 35 | a0001c0001t0001g0208 a0001c0001t0004g0149 a0001c0001t0004g0221 others(32): Show |
35 | HG00280.hp1 HG01106.hp1 HG01167.hp2 others(32): Show |
intron_variant | MODIFIER | c.98-7284delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117732 | |||||||
chr2:189117732 | CTTT | C | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-7286_98-7284del others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117732 | |||||||
chr2:189117979 | T | A | 1 | a0001c0028t0012g0151 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.98-7530A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189117979 | |||||||
chr2:189118102 | C | T | 3 | a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0021t0002g0142 |
3 | NA18984.hp1 NA19007.hp1 NA19062.hp2 |
intron_variant | MODIFIER | c.98-7653G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118102 | |||||||
chr2:189118271 | T | C | 1 | a0001c0010t0001g0101 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.98-7822A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118271 | |||||||
chr2:189118678 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-8229G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118678 | |||||||
chr2:189118752 | C | T | 4 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 others(1): Show |
4 | HG02630.hp1 HG02630.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-8303G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118752 | |||||||
chr2:189118785 | T | G | 1 | a0001c0001t0001g0060 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.98-8336A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118785 | |||||||
chr2:189118942 | TA | T | 234 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(231): Show |
238 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(235): Show |
intron_variant | MODIFIER | c.98-8494delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189118942 | |||||||
chr2:189119022 | C | T | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-8573G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119022 | |||||||
chr2:189119059 | T | G | 10 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(7): Show |
10 | HG01192.hp2 HG01257.hp1 HG01258.hp2 others(7): Show |
intron_variant | MODIFIER | c.98-8610A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119059 | |||||||
chr2:189119451 | T | C | 25 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(22): Show |
25 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(22): Show |
intron_variant | MODIFIER | c.98-9002A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119451 | |||||||
chr2:189119472 | C | T | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.98-9023G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119472 | |||||||
chr2:189119601 | A | G | 2 | a0001c0001t0001g0042 a0001c0001t0001g0093 |
2 | HG00621.hp2 HG01975.hp2 |
intron_variant | MODIFIER | c.98-9152T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189119601 | |||||||
chr2:189120143 | A | G | 149 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(146): Show |
153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-9694T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189120143 | |||||||
chr2:189120225 | T | C | 1 | a0001c0010t0001g0101 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.98-9776A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189120225 | |||||||
chr2:189120345 | A | G | 3 | a0001c0002t0002g0026 a0001c0002t0002g0237 a0001c0002t0002g0238 |
3 | HG03688.hp1 HG03704.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.98-9896T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189120345 | |||||||
chr2:189120535 | T | C | 150 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(147): Show |
154 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.98-10086A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189120535 | |||||||
chr2:189121010 | G | A | 1 | a0012c0029t0001g0235 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.98-10561C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121010 | |||||||
chr2:189121053 | T | TTAGAACA others(311): Show |
1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-10605_98-10604i others(320): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121053 | |||||||
chr2:189121105 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-10656C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121105 | |||||||
chr2:189121120 | G | A | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-10671C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121120 | |||||||
chr2:189121298 | T | G | 3 | a0001c0001t0025g0243 a0001c0002t0014g0242 a0001c0002t0014g0244 |
3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-10849A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121298 | |||||||
chr2:189121481 | T | C | 11 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(8): Show |
11 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.98-11032A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121481 | |||||||
chr2:189121736 | C | CAAAA | 94 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(91): Show |
95 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(92): Show |
intron_variant | MODIFIER | c.98-11291_98-11288d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | |||||||
chr2:189121736 | C | CAAAAA | 46 | a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0044 others(43): Show |
46 | HG00609.hp1 HG00621.hp2 HG01106.hp2 others(43): Show |
intron_variant | MODIFIER | c.98-11292_98-11288d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | |||||||
chr2:189121736 | CA | C | 63 | a0001c0001t0001g0004 a0001c0001t0001g0146 a0001c0001t0001g0147 others(60): Show |
63 | HG00408.hp1 HG01106.hp1 HG01167.hp2 others(60): Show |
intron_variant | MODIFIER | c.98-11288delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | |||||||
chr2:189121736 | CAA | C | 7 | a0001c0001t0001g0052 a0001c0001t0001g0144 a0001c0001t0001g0191 others(4): Show |
7 | HG01884.hp2 HG02145.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.98-11289_98-11288d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | |||||||
chr2:189121736 | CAAA | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0001g0124 |
6 | HG02280.hp1 HG02622.hp2 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.98-11290_98-11288d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121736 | |||||||
chr2:189121797 | T | C | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.98-11348A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189121797 | |||||||
chr2:189122343 | G | A | 161 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(158): Show |
165 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.98-11894C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122343 | |||||||
chr2:189122677 | T | C | 149 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(146): Show |
153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-12228A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122677 | |||||||
chr2:189122818 | A | T | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-12369T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122818 | |||||||
chr2:189122832 | G | A | 2 | a0001c0004t0006g0153 a0001c0004t0018g0129 |
2 | HG01884.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.98-12383C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122832 | |||||||
chr2:189122969 | A | AT | 23 | a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0003g0177 others(20): Show |
23 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(20): Show |
intron_variant | MODIFIER | c.98-12521dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122969 | |||||||
chr2:189122969 | AT | A | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-12521delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189122969 | |||||||
chr2:189123043 | C | T | 1 | a0001c0002t0014g0244 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.98-12594G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123043 | |||||||
chr2:189123183 | C | G | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-12734G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123183 | |||||||
chr2:189123255 | C | T | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.98-12806G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123255 | |||||||
chr2:189123626 | G | A | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-13177C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123626 | |||||||
chr2:189123699 | G | C | 2 | a0001c0003t0001g0174 a0001c0003t0001g0205 |
2 | NA18940.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.98-13250C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123699 | |||||||
chr2:189123830 | G | A | 237 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(234): Show |
241 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(238): Show |
intron_variant | MODIFIER | c.98-13381C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123830 | |||||||
chr2:189123863 | G | C | 24 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(21): Show |
24 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(21): Show |
intron_variant | MODIFIER | c.98-13414C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189123863 | |||||||
chr2:189124186 | T | C | 20 | a0001c0001t0001g0162 a0001c0001t0003g0177 a0001c0001t0003g0178 others(17): Show |
20 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(17): Show |
intron_variant | MODIFIER | c.98-13737A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124186 | |||||||
chr2:189124338 | G | A | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-13889C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124338 | |||||||
chr2:189124456 | G | A | 1 | a0001c0001t0003g0184 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.98-14007C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124456 | |||||||
chr2:189124577 | C | T | 149 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(146): Show |
153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-14128G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124577 | |||||||
chr2:189124592 | A | T | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-14143T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124592 | |||||||
chr2:189124617 | A | G | 1 | a0001c0001t0001g0010 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.98-14168T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124617 | |||||||
chr2:189124732 | CT | C | 11 | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0069 others(8): Show |
11 | HG01069.hp1 HG01069.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.98-14284delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124732 | |||||||
chr2:189124789 | C | A | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-14340G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124789 | |||||||
chr2:189124976 | C | T | 1 | a0001c0001t0008g0236 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.98-14527G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124976 | |||||||
chr2:189124987 | G | A | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-14538C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189124987 | |||||||
chr2:189125196 | C | T | 1 | a0001c0027t0001g0194 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.98-14747G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125196 | |||||||
chr2:189125200 | C | T | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-14751G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125200 | |||||||
chr2:189125288 | G | C | 24 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(21): Show |
24 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(21): Show |
intron_variant | MODIFIER | c.98-14839C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125288 | |||||||
chr2:189125292 | A | G | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.98-14843T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125292 | |||||||
chr2:189125417 | A | G | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.98-14968T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125417 | |||||||
chr2:189125421 | A | G | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-14972T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125421 | |||||||
chr2:189125472 | G | A | 2 | a0001c0003t0001g0186 a0001c0003t0001g0188 |
2 | HG02451.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.98-15023C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125472 | |||||||
chr2:189125578 | C | T | 73 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(70): Show |
73 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(70): Show |
intron_variant | MODIFIER | c.98-15129G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125578 | |||||||
chr2:189125603 | A | T | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.98-15154T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125603 | |||||||
chr2:189125729 | G | A | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-15280C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125729 | |||||||
chr2:189125946 | C | T | 30 | a0001c0001t0001g0208 a0001c0001t0004g0149 a0001c0001t0004g0192 others(27): Show |
30 | HG00280.hp1 HG01106.hp1 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.98-15497G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125946 | |||||||
chr2:189125965 | G | A | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-15516C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125965 | |||||||
chr2:189125971 | A | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.98-15522T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189125971 | |||||||
chr2:189126066 | A | G | 11 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(8): Show |
11 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.98-15617T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126066 | |||||||
chr2:189126115 | A | G | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-15666T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126115 | |||||||
chr2:189126440 | T | A | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-15991A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126440 | |||||||
chr2:189126453 | A | G | 1 | a0001c0003t0001g0207 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.98-16004T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126453 | |||||||
chr2:189126744 | G | A | 1 | a0001c0001t0001g0118 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.98-16295C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126744 | |||||||
chr2:189126745 | G | A | 2 | a0001c0001t0001g0073 a0001c0001t0001g0083 |
2 | HG01516.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.98-16296C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126745 | |||||||
chr2:189126848 | C | T | 1 | a0001c0001t0001g0092 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.98-16399G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126848 | |||||||
chr2:189126958 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-16509G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189126958 | |||||||
chr2:189127021 | A | G | 2 | a0001c0001t0001g0073 a0001c0001t0001g0083 |
2 | HG01516.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.98-16572T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127021 | |||||||
chr2:189127039 | T | A | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-16590A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127039 | |||||||
chr2:189127343 | C | T | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-16894G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127343 | |||||||
chr2:189127416 | T | A | 11 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(8): Show |
11 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.98-16967A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127416 | |||||||
chr2:189127545 | C | T | 240 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(237): Show |
244 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.98-17096G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127545 | |||||||
chr2:189127583 | T | C | 1 | a0001c0001t0025g0243 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.98-17134A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127583 | |||||||
chr2:189127589 | T | A | 3 | a0001c0001t0025g0243 a0001c0002t0014g0242 a0001c0002t0014g0244 |
3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-17140A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127589 | |||||||
chr2:189127684 | A | G | 1 | a0001c0001t0001g0106 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.98-17235T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127684 | |||||||
chr2:189127755 | C | A | 1 | a0001c0001t0001g0014 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.98-17306G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127755 | |||||||
chr2:189127852 | C | A | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.98-17403G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127852 | |||||||
chr2:189127976 | C | T | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.98-17527G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189127976 | |||||||
chr2:189128111 | C | T | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-17662G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128111 | |||||||
chr2:189128174 | T | C | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-17725A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128174 | |||||||
chr2:189128334 | T | C | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-17885A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128334 | |||||||
chr2:189128419 | T | G | 1 | a0001c0004t0001g0175 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.98-17970A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128419 | |||||||
chr2:189128566 | G | A | 240 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(237): Show |
244 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.98-18117C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128566 | |||||||
chr2:189128817 | C | A | 72 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(69): Show |
72 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(69): Show |
intron_variant | MODIFIER | c.98-18368G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128817 | |||||||
chr2:189128849 | G | T | 1 | a0001c0001t0001g0091 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.98-18400C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128849 | |||||||
chr2:189128867 | G | C | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-18418C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189128867 | |||||||
chr2:189129110 | G | C | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.98-18661C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129110 | |||||||
chr2:189129175 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-18726G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129175 | |||||||
chr2:189129239 | G | A | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.98-18790C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129239 | |||||||
chr2:189129558 | G | A | 4 | a0001c0004t0001g0170 a0001c0004t0001g0175 a0001c0004t0001g0211 others(1): Show |
4 | HG02056.hp1 NA18941.hp1 NA18972.hp1 others(1): Show |
intron_variant | MODIFIER | c.98-19109C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129558 | |||||||
chr2:189129579 | A | G | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.98-19130T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129579 | |||||||
chr2:189129808 | G | A | 1 | a0001c0001t0001g0010 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.98-19359C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129808 | |||||||
chr2:189129815 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-19366C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129815 | |||||||
chr2:189129902 | T | C | 2 | a0001c0001t0001g0072 a0001c0001t0001g0082 |
2 | NA18973.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.98-19453A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129902 | |||||||
chr2:189129934 | A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-19485T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189129934 | |||||||
chr2:189130825 | T | A | 1 | a0001c0002t0002g0031 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.98-20376A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189130825 | |||||||
chr2:189130943 | T | A | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.98-20494A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189130943 | |||||||
chr2:189131087 | G | A | 2 | a0001c0001t0001g0122 a0007c0020t0001g0123 |
2 | HG00408.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.98-20638C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131087 | |||||||
chr2:189131169 | T | C | 1 | a0007c0020t0001g0123 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.98-20720A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131169 | |||||||
chr2:189131182 | T | G | 1 | a0001c0004t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.98-20733A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131182 | |||||||
chr2:189131361 | C | A | 1 | a0001c0001t0001g0109 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.98-20912G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131361 | |||||||
chr2:189131566 | A | G | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-21117T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131566 | |||||||
chr2:189131693 | C | G | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-21244G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131693 | |||||||
chr2:189131880 | G | A | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-21431C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131880 | |||||||
chr2:189131898 | G | A | 3 | a0001c0001t0025g0243 a0001c0002t0014g0242 a0001c0002t0014g0244 |
3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-21449C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189131898 | |||||||
chr2:189132172 | T | C | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-21723A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132172 | |||||||
chr2:189132185 | A | G | 25 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(22): Show |
25 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(22): Show |
intron_variant | MODIFIER | c.98-21736T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132185 | |||||||
chr2:189132191 | C | T | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.98-21742G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132191 | |||||||
chr2:189132205 | G | A | 241 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(238): Show |
245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.98-21756C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132205 | |||||||
chr2:189132221 | A | C | 1 | a0001c0001t0001g0189 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.98-21772T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132221 | |||||||
chr2:189132749 | C | T | 112 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(109): Show |
116 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.98-22300G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132749 | |||||||
chr2:189132996 | A | G | 1 | a0001c0001t0001g0073 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.98-22547T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189132996 | |||||||
chr2:189133090 | C | G | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-22641G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133090 | |||||||
chr2:189133108 | G | A | 1 | a0001c0004t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.98-22659C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133108 | |||||||
chr2:189133112 | G | A | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-22663C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133112 | |||||||
chr2:189133114 | C | CT | 20 | a0001c0001t0001g0004 a0001c0001t0001g0144 a0001c0001t0001g0146 others(17): Show |
20 | HG01167.hp2 HG01358.hp1 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.98-22666dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133114 | |||||||
chr2:189133114 | CT | C | 13 | a0001c0001t0001g0012 a0001c0001t0001g0052 a0001c0001t0001g0059 others(10): Show |
13 | HG02145.hp2 HG02630.hp2 HG03041.hp2 others(10): Show |
intron_variant | MODIFIER | c.98-22666delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133114 | |||||||
chr2:189133114 | CTT | C | 103 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0013 others(100): Show |
107 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.98-22667_98-22666d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133114 | |||||||
chr2:189133114 | CTTT | C | 32 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(29): Show |
32 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.98-22668_98-22666d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133114 | |||||||
chr2:189133141 | A | C | 1 | a0001c0001t0001g0088 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.98-22692T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133141 | |||||||
chr2:189133173 | T | C | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.98-22724A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133173 | |||||||
chr2:189133197 | T | C | 1 | a0001c0001t0001g0117 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.98-22748A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133197 | |||||||
chr2:189133294 | T | C | 31 | a0001c0001t0001g0162 a0001c0001t0003g0152 a0001c0001t0003g0165 others(28): Show |
31 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(28): Show |
intron_variant | MODIFIER | c.98-22845A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133294 | |||||||
chr2:189133295 | AT | A | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-22847delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133295 | |||||||
chr2:189133296 | T | C | 1 | a0001c0001t0001g0189 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.98-22847A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133296 | |||||||
chr2:189133298 | T | A | 1 | a0015c0017t0006g0034 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.98-22849A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133298 | |||||||
chr2:189133302 | G | T | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-22853C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133302 | |||||||
chr2:189133370 | C | T | 1 | a0010c0024t0004g0063 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.98-22921G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133370 | |||||||
chr2:189133561 | T | G | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-23112A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133561 | |||||||
chr2:189133613 | C | T | 160 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(157): Show |
164 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(161): Show |
intron_variant | MODIFIER | c.98-23164G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133613 | |||||||
chr2:189133632 | C | G | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.98-23183G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133632 | |||||||
chr2:189133827 | G | T | 1 | a0001c0001t0007g0054 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.98-23378C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189133827 | |||||||
chr2:189134035 | A | T | 24 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(21): Show |
24 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(21): Show |
intron_variant | MODIFIER | c.98-23586T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134035 | |||||||
chr2:189134087 | G | A | 1 | a0001c0001t0007g0054 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.98-23638C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134087 | |||||||
chr2:189134280 | G | A | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-23831C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134280 | |||||||
chr2:189134285 | T | C | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-23836A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134285 | |||||||
chr2:189134443 | G | T | 1 | a0001c0004t0001g0212 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.98-23994C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134443 | |||||||
chr2:189134482 | G | A | 1 | a0001c0003t0011g0167 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.98-24033C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134482 | |||||||
chr2:189134514 | G | A | 112 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(109): Show |
116 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.98-24065C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134514 | |||||||
chr2:189134521 | G | A | 80 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(77): Show |
80 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(77): Show |
intron_variant | MODIFIER | c.98-24072C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134521 | |||||||
chr2:189134545 | C | T | 2 | a0001c0001t0001g0004 a0001c0001t0004g0043 |
2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-24096G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134545 | |||||||
chr2:189134977 | GAA | G | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-24530_98-24529d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189134977 | |||||||
chr2:189135081 | C | T | 1 | a0001c0001t0001g0110 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.98-24632G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135081 | |||||||
chr2:189135093 | T | C | 2 | a0001c0001t0001g0004 a0001c0001t0004g0043 |
2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-24644A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135093 | |||||||
chr2:189135264 | C | G | 1 | a0001c0001t0003g0184 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.98-24815G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135264 | |||||||
chr2:189135354 | G | A | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-24905C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135354 | |||||||
chr2:189135542 | C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.98-25093G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135542 | |||||||
chr2:189135637 | A | G | 1 | a0002c0006t0005g0132 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.98-25188T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189135637 | |||||||
chr2:189136306 | A | C | 1 | a0001c0001t0001g0087 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.98-25857T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136306 | |||||||
chr2:189136366 | T | C | 2 | a0001c0001t0001g0012 a0001c0001t0013g0011 |
2 | HG03139.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.98-25917A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136366 | |||||||
chr2:189136380 | T | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-25931A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136380 | |||||||
chr2:189136457 | T | C | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-26008A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136457 | |||||||
chr2:189136458 | A | G | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-26009T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136458 | |||||||
chr2:189136515 | A | AAT | 230 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(227): Show |
234 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(231): Show |
intron_variant | MODIFIER | c.98-26068_98-26067d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136515 | |||||||
chr2:189136576 | G | A | 1 | a0001c0003t0001g0207 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.98-26127C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189136576 | |||||||
chr2:189137081 | G | A | 148 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(145): Show |
152 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.98-26632C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137081 | |||||||
chr2:189137099 | C | T | 1 | a0001c0001t0001g0109 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.98-26650G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137099 | |||||||
chr2:189137468 | G | C | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-27019C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137468 | |||||||
chr2:189137570 | T | C | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-27121A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137570 | |||||||
chr2:189137696 | T | C | 240 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(237): Show |
244 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.98-27247A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189137696 | |||||||
chr2:189138041 | G | C | 149 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(146): Show |
153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.98-27592C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138041 | |||||||
chr2:189138355 | T | A | 1 | a0001c0001t0001g0104 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.98-27906A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138355 | |||||||
chr2:189138559 | T | C | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.98-28110A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138559 | |||||||
chr2:189138572 | A | C | 3 | a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 |
3 | NA18977.hp1 NA19006.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.98-28123T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138572 | |||||||
chr2:189138762 | C | A | 147 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(144): Show |
151 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.98-28313G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189138762 | |||||||
chr2:189139671 | T | C | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.98-29222A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139671 | |||||||
chr2:189139721 | T | C | 1 | a0001c0001t0001g0014 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.98-29272A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139721 | |||||||
chr2:189139722 | A | T | 1 | a0001c0001t0001g0014 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.98-29273T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139722 | |||||||
chr2:189139876 | T | C | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.98-29427A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139876 | |||||||
chr2:189139889 | A | G | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-29440T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139889 | |||||||
chr2:189139902 | G | A | 33 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(30): Show |
33 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.98-29453C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139902 | |||||||
chr2:189139943 | C | T | 33 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(30): Show |
33 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.98-29494G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189139943 | |||||||
chr2:189140029 | C | A | 111 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(108): Show |
115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.98-29580G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140029 | |||||||
chr2:189140033 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-29584C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140033 | |||||||
chr2:189140052 | G | A | 2 | a0005c0013t0001g0114 a0005c0013t0001g0115 |
2 | HG02717.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.98-29603C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140052 | |||||||
chr2:189140117 | C | T | 33 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(30): Show |
33 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.98-29668G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140117 | |||||||
chr2:189140247 | C | T | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.98-29798G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140247 | |||||||
chr2:189140301 | A | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-29852T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140301 | |||||||
chr2:189140962 | T | C | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-30513A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189140962 | |||||||
chr2:189141027 | T | C | 1 | a0001c0001t0001g0015 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.98-30578A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141027 | |||||||
chr2:189141142 | A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-30693T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141142 | |||||||
chr2:189141277 | T | G | 14 | a0001c0001t0001g0004 a0001c0001t0001g0146 a0001c0001t0001g0147 others(11): Show |
14 | HG01069.hp1 HG02630.hp1 HG02630.hp2 others(11): Show |
intron_variant | MODIFIER | c.98-30828A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141277 | |||||||
chr2:189141383 | T | G | 3 | a0001c0001t0025g0243 a0001c0002t0014g0242 a0001c0002t0014g0244 |
3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-30934A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141383 | |||||||
chr2:189141552 | G | A | 1 | a0001c0001t0003g0182 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.98-31103C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141552 | |||||||
chr2:189141996 | C | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-31547G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189141996 | |||||||
chr2:189142226 | G | A | 1 | a0001c0004t0001g0002 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.98-31777C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142226 | |||||||
chr2:189142283 | T | C | 1 | a0001c0001t0001g0073 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.98-31834A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142283 | |||||||
chr2:189142380 | C | T | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-31931G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142380 | |||||||
chr2:189142617 | A | G | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 others(4): Show |
7 | HG01192.hp1 HG01261.hp2 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.98-32168T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142617 | |||||||
chr2:189142652 | C | T | 10 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(7): Show |
10 | HG01192.hp2 HG01257.hp1 HG01258.hp2 others(7): Show |
intron_variant | MODIFIER | c.98-32203G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142652 | |||||||
chr2:189142688 | T | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-32239A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189142688 | |||||||
chr2:189143016 | C | T | 3 | a0001c0001t0025g0243 a0001c0002t0014g0242 a0001c0002t0014g0244 |
3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.98-32567G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143016 | |||||||
chr2:189143105 | A | T | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.98-32656T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143105 | |||||||
chr2:189143466 | C | T | 158 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(155): Show |
162 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.98-33017G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143466 | |||||||
chr2:189143492 | C | T | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.98-33043G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143492 | |||||||
chr2:189143670 | C | G | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.98-33221G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143670 | |||||||
chr2:189143798 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.98-33349C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143798 | |||||||
chr2:189143854 | T | A | 23 | a0001c0001t0001g0162 a0001c0001t0003g0165 a0001c0001t0003g0166 others(20): Show |
23 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(20): Show |
intron_variant | MODIFIER | c.98-33405A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143854 | |||||||
chr2:189143857 | T | C | 240 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(237): Show |
244 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.98-33408A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143857 | |||||||
chr2:189143947 | G | T | 1 | a0001c0001t0001g0105 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.98-33498C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189143947 | |||||||
chr2:189144264 | A | C | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.98-33815T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144264 | |||||||
chr2:189144287 | A | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-33838T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144287 | |||||||
chr2:189144340 | C | T | 121 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(118): Show |
125 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(122): Show |
intron_variant | MODIFIER | c.98-33891G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144340 | |||||||
chr2:189144502 | ATGAG | A | 121 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(118): Show |
125 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(122): Show |
intron_variant | MODIFIER | c.98-34057_98-34054d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144502 | |||||||
chr2:189144742 | C | T | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.98-34293G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144742 | |||||||
chr2:189144872 | T | C | 2 | a0001c0002t0009g0160 a0001c0002t0009g0161 |
2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.98-34423A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144872 | |||||||
chr2:189144992 | C | G | 121 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(118): Show |
125 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(122): Show |
intron_variant | MODIFIER | c.97+34516G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189144992 | |||||||
chr2:189145133 | A | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+34375T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145133 | |||||||
chr2:189145300 | T | C | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.97+34208A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145300 | |||||||
chr2:189145556 | A | G | 1 | a0001c0001t0001g0158 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.97+33952T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145556 | |||||||
chr2:189145680 | A | G | 1 | a0001c0001t0001g0049 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.97+33828T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145680 | |||||||
chr2:189145696 | T | C | 22 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(19): Show |
22 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+33812A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145696 | |||||||
chr2:189145727 | G | A | 17 | a0001c0004t0001g0002 a0001c0004t0001g0053 a0001c0004t0001g0164 others(14): Show |
18 | HG01433.hp1 HG02056.hp1 HG02074.hp2 others(15): Show |
intron_variant | MODIFIER | c.97+33781C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145727 | |||||||
chr2:189145772 | A | G | 1 | a0001c0001t0001g0083 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.97+33736T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189145772 | |||||||
chr2:189146382 | A | G | 1 | a0001c0001t0001g0111 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.97+33126T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146382 | |||||||
chr2:189146430 | A | G | 111 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(108): Show |
115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+33078T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146430 | |||||||
chr2:189146480 | G | A | 11 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(8): Show |
11 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.97+33028C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146480 | |||||||
chr2:189146576 | G | A | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+32932C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146576 | |||||||
chr2:189146623 | G | A | 1 | a0001c0001t0001g0105 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.97+32885C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146623 | |||||||
chr2:189146692 | G | A | 158 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(155): Show |
162 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.97+32816C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146692 | |||||||
chr2:189146815 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+32693C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146815 | |||||||
chr2:189146996 | C | A | 1 | a0001c0001t0001g0191 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.97+32512G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189146996 | |||||||
chr2:189147210 | A | G | 120 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(117): Show |
124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+32298T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189147210 | |||||||
chr2:189147382 | C | A | 1 | a0001c0004t0001g0219 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.97+32126G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189147382 | |||||||
chr2:189147450 | C | G | 116 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(113): Show |
120 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(117): Show |
intron_variant | MODIFIER | c.97+32058G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189147450 | |||||||
chr2:189148020 | C | T | 33 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(30): Show |
33 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.97+31488G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148020 | |||||||
chr2:189148021 | G | A | 1 | a0001c0001t0004g0192 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.97+31487C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148021 | |||||||
chr2:189148065 | C | G | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+31443G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148065 | |||||||
chr2:189148369 | T | C | 4 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 others(1): Show |
4 | HG01261.hp2 HG02109.hp2 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+31139A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148369 | |||||||
chr2:189148409 | A | C | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+31099T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148409 | |||||||
chr2:189148420 | G | A | 75 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(72): Show |
75 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(72): Show |
intron_variant | MODIFIER | c.97+31088C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148420 | |||||||
chr2:189148699 | T | C | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+30809A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148699 | |||||||
chr2:189148799 | T | C | 1 | a0001c0001t0001g0111 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.97+30709A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148799 | |||||||
chr2:189148857 | T | C | 1 | a0001c0001t0004g0149 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.97+30651A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148857 | |||||||
chr2:189148863 | G | T | 1 | a0003c0014t0001g0039 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.97+30645C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148863 | |||||||
chr2:189148929 | C | T | 1 | a0001c0001t0001g0086 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.97+30579G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189148929 | |||||||
chr2:189149030 | C | T | 2 | a0004c0009t0001g0019 a0004c0009t0001g0027 |
2 | HG01433.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.97+30478G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149030 | |||||||
chr2:189149065 | G | A | 22 | a0001c0001t0001g0208 a0001c0003t0001g0150 a0001c0003t0001g0163 others(19): Show |
22 | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+30443C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149065 | |||||||
chr2:189149067 | A | G | 3 | a0001c0001t0025g0243 a0001c0002t0014g0242 a0001c0002t0014g0244 |
3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.97+30441T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149067 | |||||||
chr2:189149406 | T | C | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+30102A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149406 | |||||||
chr2:189149512 | G | A | 1 | a0005c0013t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.97+29996C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149512 | |||||||
chr2:189149563 | C | G | 1 | a0001c0001t0001g0046 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.97+29945G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149563 | |||||||
chr2:189149591 | T | C | 111 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(108): Show |
115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+29917A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149591 | |||||||
chr2:189149742 | G | A | 22 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(19): Show |
22 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+29766C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189149742 | |||||||
chr2:189150053 | A | T | 1 | a0001c0001t0001g0085 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.97+29455T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150053 | |||||||
chr2:189150153 | C | G | 240 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(237): Show |
244 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.97+29355G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150153 | |||||||
chr2:189150338 | C | G | 34 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(31): Show |
34 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.97+29170G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150338 | |||||||
chr2:189150583 | C | T | 1 | a0001c0001t0001g0077 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.97+28925G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150583 | |||||||
chr2:189150632 | A | T | 2 | a0001c0001t0003g0127 a0001c0001t0003g0128 |
2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.97+28876T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150632 | |||||||
chr2:189150640 | G | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+28868C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150640 | |||||||
chr2:189150934 | G | A | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+28574C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189150934 | |||||||
chr2:189151062 | T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+28446A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151062 | |||||||
chr2:189151085 | T | C | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+28423A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151085 | |||||||
chr2:189151190 | A | T | 1 | a0001c0001t0001g0121 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.97+28318T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151190 | |||||||
chr2:189151212 | G | A | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+28296C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151212 | |||||||
chr2:189151805 | CTTTGG | C | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+27698_97+27702d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189151805 | |||||||
chr2:189152040 | C | A | 1 | a0001c0003t0011g0168 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.97+27468G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152040 | |||||||
chr2:189152110 | C | T | 120 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(117): Show |
124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+27398G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152110 | |||||||
chr2:189152541 | C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+26967G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152541 | |||||||
chr2:189152668 | G | A | 1 | a0001c0001t0001g0158 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.97+26840C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152668 | |||||||
chr2:189152935 | G | A | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+26573C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189152935 | |||||||
chr2:189153167 | T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+26341A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153167 | |||||||
chr2:189153373 | G | A | 120 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(117): Show |
124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+26135C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153373 | |||||||
chr2:189153441 | A | G | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.97+26067T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153441 | |||||||
chr2:189153454 | T | C | 2 | a0001c0001t0001g0012 a0001c0001t0013g0011 |
2 | HG03139.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.97+26054A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153454 | |||||||
chr2:189153457 | C | A | 1 | a0001c0001t0001g0159 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.97+26051G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153457 | |||||||
chr2:189153494 | A | T | 1 | a0001c0001t0003g0166 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.97+26014T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153494 | |||||||
chr2:189153878 | T | C | 1 | a0001c0001t0001g0032 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.97+25630A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153878 | |||||||
chr2:189153916 | T | C | 240 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(237): Show |
244 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.97+25592A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153916 | |||||||
chr2:189153932 | G | T | 1 | a0001c0001t0022g0084 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.97+25576C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189153932 | |||||||
chr2:189154085 | A | T | 1 | a0001c0003t0011g0167 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.97+25423T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154085 | |||||||
chr2:189154118 | C | T | 124 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(121): Show |
128 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(125): Show |
intron_variant | MODIFIER | c.97+25390G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154118 | |||||||
chr2:189154214 | C | T | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+25294G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154214 | |||||||
chr2:189154258 | A | G | 111 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(108): Show |
115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+25250T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154258 | |||||||
chr2:189154443 | T | C | 4 | a0001c0001t0001g0119 a0001c0001t0001g0121 a0003c0014t0001g0039 others(1): Show |
4 | HG01069.hp2 HG01081.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+25065A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154443 | |||||||
chr2:189154617 | C | T | 1 | a0001c0003t0001g0186 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.97+24891G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154617 | |||||||
chr2:189154635 | T | C | 1 | a0001c0001t0001g0067 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.97+24873A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154635 | |||||||
chr2:189154708 | C | T | 1 | a0001c0001t0001g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.97+24800G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154708 | |||||||
chr2:189154711 | C | A | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.97+24797G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154711 | |||||||
chr2:189154803 | T | C | 2 | a0001c0004t0018g0129 a0008c0016t0006g0130 |
2 | HG01081.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.97+24705A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154803 | |||||||
chr2:189154835 | C | T | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.97+24673G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154835 | |||||||
chr2:189154902 | G | A | 1 | a0001c0002t0002g0033 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.97+24606C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189154902 | |||||||
chr2:189155044 | A | G | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+24464T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155044 | |||||||
chr2:189155138 | C | G | 1 | a0001c0002t0002g0026 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.97+24370G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155138 | |||||||
chr2:189155383 | T | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+24125A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155383 | |||||||
chr2:189155657 | T | C | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+23851A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155657 | |||||||
chr2:189155688 | GTTTA | G | 3 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 |
3 | HG02451.hp1 HG02717.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.97+23816_97+23819d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155688 | |||||||
chr2:189155909 | C | T | 1 | a0002c0006t0005g0131 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.97+23599G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155909 | |||||||
chr2:189155915 | A | G | 2 | a0001c0001t0001g0073 a0001c0001t0001g0083 |
2 | HG01516.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.97+23593T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189155915 | |||||||
chr2:189156220 | A | G | 1 | a0001c0001t0008g0220 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.97+23288T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189156220 | |||||||
chr2:189156242 | G | T | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+23266C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189156242 | |||||||
chr2:189156827 | C | T | 1 | a0001c0001t0003g0152 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.97+22681G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189156827 | |||||||
chr2:189156835 | C | T | 2 | a0001c0001t0003g0165 a0001c0001t0003g0209 |
2 | HG02280.hp2 NA18962.hp2 |
intron_variant | MODIFIER | c.97+22673G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189156835 | |||||||
chr2:189157113 | T | C | 111 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(108): Show |
115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+22395A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157113 | |||||||
chr2:189157117 | GATATATC others(9): Show |
G | 120 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(117): Show |
124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+22375_97+22390d others(18): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157117 | |||||||
chr2:189157124 | C | CTA | 121 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0030 others(118): Show |
121 | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(118): Show |
intron_variant | MODIFIER | c.97+22382_97+22383d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157124 | |||||||
chr2:189157130 | A | ATATATAG others(15): Show |
1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+22377_97+22378i others(24): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157130 | |||||||
chr2:189157133 | T | TATAGATA others(63): Show |
1 | a0001c0003t0001g0223 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.97+22374_97+22375i others(72): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(23): Show |
21 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(18): Show |
21 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(18): Show |
intron_variant | MODIFIER | c.97+22374_97+22375i others(32): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(101): Show |
1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.97+22374_97+22375i others(110): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(111): Show |
2 | a0001c0001t0001g0004 a0001c0001t0004g0043 |
2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+22374_97+22375i others(120): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(39): Show |
58 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0001g0155 others(55): Show |
58 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.97+22374_97+22375i others(48): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(63): Show |
10 | a0001c0001t0001g0191 a0001c0001t0003g0166 a0001c0001t0004g0149 others(7): Show |
10 | HG00280.hp1 HG01106.hp1 HG01358.hp1 others(7): Show |
intron_variant | MODIFIER | c.97+22374_97+22375i others(72): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(121): Show |
20 | a0001c0001t0001g0208 a0001c0003t0001g0150 a0001c0003t0001g0163 others(17): Show |
20 | HG01167.hp2 HG01169.hp2 HG01255.hp1 others(17): Show |
intron_variant | MODIFIER | c.97+22374_97+22375i others(130): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(73): Show |
2 | a0001c0002t0002g0238 a0015c0017t0006g0034 |
2 | HG03688.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.97+22374_97+22375i others(82): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(141): Show |
1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+22374_97+22375i others(150): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(69): Show |
3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+22374_97+22375i others(78): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157133 | T | TATAGATA others(63): Show |
1 | a0001c0028t0012g0151 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.97+22374_97+22375i others(72): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157133 | |||||||
chr2:189157182 | TA | T | 22 | a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0177 others(19): Show |
22 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+22325delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157182 | |||||||
chr2:189157183 | A | AT | 3 | a0001c0002t0009g0160 a0001c0002t0009g0161 a0001c0010t0007g0074 |
3 | HG03516.hp1 HG03540.hp1 NA18940.hp1 |
intron_variant | MODIFIER | c.97+22324_97+22325i others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157183 | |||||||
chr2:189157327 | G | A | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+22181C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189157327 | |||||||
chr2:189158132 | A | G | 2 | a0001c0002t0009g0160 a0001c0002t0009g0161 |
2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.97+21376T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158132 | |||||||
chr2:189158336 | T | C | 1 | a0001c0004t0018g0129 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.97+21172A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158336 | |||||||
chr2:189158450 | A | C | 21 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(18): Show |
21 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(18): Show |
intron_variant | MODIFIER | c.97+21058T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158450 | |||||||
chr2:189158527 | T | C | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+20981A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158527 | |||||||
chr2:189158605 | T | A | 238 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(235): Show |
242 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(239): Show |
intron_variant | MODIFIER | c.97+20903A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158605 | |||||||
chr2:189158629 | A | G | 1 | a0015c0017t0006g0034 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.97+20879T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158629 | |||||||
chr2:189158874 | A | T | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+20634T>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158874 | |||||||
chr2:189158926 | C | A | 1 | a0001c0001t0001g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.97+20582G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189158926 | |||||||
chr2:189159234 | A | G | 41 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(38): Show |
41 | HG00280.hp1 HG01106.hp1 HG01167.hp2 others(38): Show |
intron_variant | MODIFIER | c.97+20274T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159234 | |||||||
chr2:189159466 | G | T | 3 | a0001c0001t0025g0243 a0001c0002t0014g0242 a0001c0002t0014g0244 |
3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.97+20042C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159466 | |||||||
chr2:189159702 | TA | T | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+19805delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159702 | |||||||
chr2:189159719 | CTAAAACA others(1): Show |
C | 120 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(117): Show |
124 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.97+19781_97+19788d others(10): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159719 | |||||||
chr2:189159795 | G | A | 3 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0013c0015t0001g0108 |
3 | HG01517.hp2 HG03654.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.97+19713C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159795 | |||||||
chr2:189159866 | C | T | 2 | a0001c0002t0009g0160 a0001c0002t0009g0161 |
2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.97+19642G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189159866 | |||||||
chr2:189160046 | T | C | 1 | a0001c0001t0001g0004 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.97+19462A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160046 | |||||||
chr2:189160059 | C | T | 1 | a0001c0004t0001g0053 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.97+19449G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160059 | |||||||
chr2:189160274 | A | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+19234T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160274 | |||||||
chr2:189160530 | C | A | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.97+18978G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160530 | |||||||
chr2:189160536 | G | T | 3 | a0001c0001t0025g0243 a0001c0002t0014g0242 a0001c0002t0014g0244 |
3 | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.97+18972C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160536 | |||||||
chr2:189160828 | C | CT | 16 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(13): Show |
16 | HG00609.hp1 HG01358.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.97+18679dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160828 | |||||||
chr2:189160828 | CT | C | 7 | a0001c0001t0003g0128 a0001c0001t0003g0183 a0001c0002t0020g0038 others(4): Show |
7 | HG01069.hp1 HG01081.hp1 HG01167.hp2 others(4): Show |
intron_variant | MODIFIER | c.97+18679delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160828 | |||||||
chr2:189160894 | G | A | 116 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(113): Show |
120 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(117): Show |
intron_variant | MODIFIER | c.97+18614C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160894 | |||||||
chr2:189160912 | C | A | 111 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(108): Show |
115 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.97+18596G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160912 | |||||||
chr2:189160936 | T | C | 41 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(38): Show |
41 | HG00280.hp1 HG01106.hp1 HG01167.hp2 others(38): Show |
intron_variant | MODIFIER | c.97+18572A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160936 | |||||||
chr2:189160956 | G | A | 3 | a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0222 |
3 | NA18942.hp1 NA18953.hp1 NA18962.hp2 |
intron_variant | MODIFIER | c.97+18552C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189160956 | |||||||
chr2:189161201 | T | C | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+18307A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161201 | |||||||
chr2:189161292 | G | C | 158 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(155): Show |
162 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.97+18216C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161292 | |||||||
chr2:189161485 | T | C | 5 | a0001c0001t0008g0220 a0001c0001t0008g0236 a0001c0001t0008g0240 others(2): Show |
5 | HG03688.hp1 HG03704.hp1 HG03831.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+18023A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161485 | |||||||
chr2:189161526 | C | T | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.97+17982G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161526 | |||||||
chr2:189161708 | T | C | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+17800A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161708 | |||||||
chr2:189161800 | A | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+17708T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161800 | |||||||
chr2:189161836 | A | G | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+17672T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189161836 | |||||||
chr2:189162043 | T | C | 1 | a0001c0001t0001g0076 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.97+17465A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189162043 | |||||||
chr2:189162430 | T | A | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+17078A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189162430 | |||||||
chr2:189162553 | G | A | 1 | a0001c0001t0001g0109 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.97+16955C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189162553 | |||||||
chr2:189163004 | T | A | 238 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(235): Show |
242 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(239): Show |
intron_variant | MODIFIER | c.97+16504A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163004 | |||||||
chr2:189163011 | T | C | 108 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(105): Show |
111 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(108): Show |
intron_variant | MODIFIER | c.97+16497A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163011 | |||||||
chr2:189163640 | C | A | 1 | a0001c0001t0003g0232 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.97+15868G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163640 | |||||||
chr2:189163763 | A | G | 92 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(89): Show |
93 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.97+15745T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163763 | |||||||
chr2:189163770 | C | T | 108 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(105): Show |
111 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(108): Show |
intron_variant | MODIFIER | c.97+15738G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163770 | |||||||
chr2:189163894 | A | G | 1 | a0008c0016t0006g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.97+15614T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189163894 | |||||||
chr2:189164019 | G | A | 1 | a0001c0001t0004g0079 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.97+15489C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164019 | |||||||
chr2:189164436 | G | T | 23 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(20): Show |
23 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(20): Show |
intron_variant | MODIFIER | c.97+15072C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164436 | |||||||
chr2:189164580 | A | G | 143 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(140): Show |
146 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(143): Show |
intron_variant | MODIFIER | c.97+14928T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164580 | |||||||
chr2:189164658 | C | T | 1 | a0001c0001t0001g0014 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.97+14850G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164658 | |||||||
chr2:189164852 | T | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+14656A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164852 | |||||||
chr2:189164956 | C | T | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+14552G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189164956 | |||||||
chr2:189165227 | G | A | 1 | a0014c0022t0002g0035 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.97+14281C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189165227 | |||||||
chr2:189165619 | C | T | 34 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(31): Show |
34 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.97+13889G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189165619 | |||||||
chr2:189165877 | T | C | 1 | a0001c0002t0002g0048 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.97+13631A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189165877 | |||||||
chr2:189165897 | G | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+13611C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189165897 | |||||||
chr2:189166020 | T | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+13488A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166020 | |||||||
chr2:189166050 | A | AT | 95 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(92): Show |
98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+13457dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166050 | |||||||
chr2:189166090 | T | G | 74 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(71): Show |
74 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.97+13418A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166090 | |||||||
chr2:189166288 | G | A | 1 | a0001c0001t0008g0240 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.97+13220C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166288 | |||||||
chr2:189166330 | A | AT | 18 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0177 others(15): Show |
18 | HG00408.hp1 HG02165.hp1 HG02895.hp1 others(15): Show |
intron_variant | MODIFIER | c.97+13177dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166330 | |||||||
chr2:189166330 | AT | A | 9 | a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0013g0145 others(6): Show |
9 | HG01069.hp1 HG01069.hp2 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.97+13177delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166330 | |||||||
chr2:189166364 | G | A | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+13144C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166364 | |||||||
chr2:189166373 | T | C | 241 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(238): Show |
245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.97+13135A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166373 | |||||||
chr2:189166454 | A | C | 104 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(101): Show |
107 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(104): Show |
intron_variant | MODIFIER | c.97+13054T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189166454 | |||||||
chr2:189167433 | T | A | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+12075A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167433 | |||||||
chr2:189167518 | C | A | 2 | a0001c0001t0001g0004 a0001c0001t0004g0043 |
2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+11990G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167518 | |||||||
chr2:189167664 | A | AT | 93 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0001g0155 others(90): Show |
94 | HG00280.hp1 HG00408.hp1 HG01106.hp1 others(91): Show |
intron_variant | MODIFIER | c.97+11843dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167664 | |||||||
chr2:189167664 | A | ATT | 11 | a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0003g0135 others(8): Show |
11 | HG00423.hp2 HG00609.hp2 HG01978.hp1 others(8): Show |
intron_variant | MODIFIER | c.97+11842_97+11843d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167664 | |||||||
chr2:189167664 | A | ATTT | 92 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(89): Show |
95 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.97+11841_97+11843d others(5): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167664 | |||||||
chr2:189167664 | A | ATTTT | 10 | a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0111 others(7): Show |
10 | HG00423.hp1 HG02055.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.97+11840_97+11843d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167664 | |||||||
chr2:189167809 | T | G | 1 | a0001c0001t0003g0222 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.97+11699A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167809 | |||||||
chr2:189167852 | C | T | 22 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(19): Show |
22 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+11656G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167852 | |||||||
chr2:189167941 | C | T | 5 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0009g0143 others(2): Show |
5 | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+11567G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167941 | |||||||
chr2:189167944 | A | AT | 5 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(2): Show |
5 | HG02895.hp1 NA18977.hp1 NA19006.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+11563dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167944 | |||||||
chr2:189167944 | A | ATTTT | 85 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(82): Show |
88 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(85): Show |
intron_variant | MODIFIER | c.97+11560_97+11563d others(6): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167944 | |||||||
chr2:189167944 | A | ATTTTT | 8 | a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0047 others(5): Show |
8 | HG02055.hp1 HG02293.hp1 NA18612.hp1 others(5): Show |
intron_variant | MODIFIER | c.97+11559_97+11563d others(7): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167944 | |||||||
chr2:189167998 | C | T | 102 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(99): Show |
105 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(102): Show |
intron_variant | MODIFIER | c.97+11510G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189167998 | |||||||
chr2:189168023 | C | T | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+11485G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168023 | |||||||
chr2:189168144 | T | C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(2): Show |
8 | HG02145.hp2 HG02258.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.97+11364A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168144 | |||||||
chr2:189168185 | C | T | 10 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(7): Show |
10 | HG01192.hp2 HG01257.hp1 HG01258.hp2 others(7): Show |
intron_variant | MODIFIER | c.97+11323G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168185 | |||||||
chr2:189168237 | G | GT | 121 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(118): Show |
121 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(118): Show |
intron_variant | MODIFIER | c.97+11270dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168237 | |||||||
chr2:189168237 | G | GTT | 11 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(8): Show |
14 | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(11): Show |
intron_variant | MODIFIER | c.97+11269_97+11270d others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168237 | |||||||
chr2:189168334 | G | T | 1 | a0001c0002t0002g0016 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.97+11174C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168334 | |||||||
chr2:189168343 | T | G | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+11165A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168343 | |||||||
chr2:189168346 | G | T | 1 | a0001c0001t0001g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.97+11162C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168346 | |||||||
chr2:189168422 | T | G | 1 | a0001c0001t0003g0135 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.97+11086A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168422 | |||||||
chr2:189168600 | G | T | 100 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(97): Show |
103 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.97+10908C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168600 | |||||||
chr2:189168800 | T | C | 2 | a0001c0002t0009g0160 a0001c0002t0009g0161 |
2 | HG03516.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.97+10708A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189168800 | |||||||
chr2:189169077 | G | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+10431C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169077 | |||||||
chr2:189169178 | G | A | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.97+10330C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169178 | |||||||
chr2:189169273 | T | C | 1 | a0002c0006t0017g0136 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.97+10235A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169273 | |||||||
chr2:189169340 | C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+10168G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169340 | |||||||
chr2:189169481 | T | C | 1 | a0001c0003t0001g0223 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.97+10027A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169481 | |||||||
chr2:189169587 | A | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+9921T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169587 | |||||||
chr2:189169728 | T | G | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+9780A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169728 | |||||||
chr2:189169775 | G | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+9733C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169775 | |||||||
chr2:189169796 | C | T | 1 | a0001c0004t0006g0153 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.97+9712G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169796 | |||||||
chr2:189169854 | A | G | 2 | a0001c0004t0018g0129 a0008c0016t0006g0130 |
2 | HG01081.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.97+9654T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169854 | |||||||
chr2:189169928 | G | A | 1 | a0001c0001t0001g0111 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.97+9580C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189169928 | |||||||
chr2:189170012 | T | A | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+9496A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170012 | |||||||
chr2:189170017 | T | G | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+9491A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170017 | |||||||
chr2:189170079 | G | T | 1 | a0001c0019t0001g0070 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.97+9429C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170079 | |||||||
chr2:189170245 | C | A | 95 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(92): Show |
98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+9263G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170245 | |||||||
chr2:189170696 | G | A | 1 | a0001c0001t0001g0056 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.97+8812C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170696 | |||||||
chr2:189170722 | G | C | 2 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | HG02109.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.97+8786C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170722 | |||||||
chr2:189170837 | T | C | 90 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(87): Show |
90 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(87): Show |
intron_variant | MODIFIER | c.97+8671A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170837 | |||||||
chr2:189170883 | T | C | 3 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0002t0002g0057 |
3 | NA18972.hp2 NA18992.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.97+8625A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189170883 | |||||||
chr2:189171019 | T | C | 4 | a0001c0001t0003g0152 a0001c0001t0003g0224 a0001c0001t0003g0225 others(1): Show |
4 | HG02109.hp1 HG03098.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+8489A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171019 | |||||||
chr2:189171128 | T | C | 100 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(97): Show |
103 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.97+8380A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171128 | |||||||
chr2:189171193 | T | C | 95 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(92): Show |
98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+8315A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171193 | |||||||
chr2:189171218 | G | A | 100 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(97): Show |
103 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.97+8290C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171218 | |||||||
chr2:189171292 | A | G | 100 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(97): Show |
103 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.97+8216T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171292 | |||||||
chr2:189171310 | G | T | 1 | a0011c0018t0012g0148 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.97+8198C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171310 | |||||||
chr2:189171430 | C | T | 1 | a0001c0030t0016g0017 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.97+8078G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171430 | |||||||
chr2:189171485 | G | A | 77 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(74): Show |
77 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.97+8023C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171485 | |||||||
chr2:189171502 | C | T | 241 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(238): Show |
245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.97+8006G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171502 | |||||||
chr2:189171535 | C | T | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+7973G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171535 | |||||||
chr2:189171687 | T | C | 1 | a0001c0002t0014g0244 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.97+7821A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171687 | |||||||
chr2:189171736 | A | C | 1 | a0001c0001t0001g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.97+7772T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171736 | |||||||
chr2:189171751 | G | C | 2 | a0001c0001t0003g0227 a0001c0001t0003g0228 |
2 | HG00408.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.97+7757C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189171751 | |||||||
chr2:189172225 | G | A | 2 | a0005c0013t0001g0114 a0005c0013t0001g0115 |
2 | HG02717.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.97+7283C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172225 | |||||||
chr2:189172418 | A | C | 1 | a0001c0002t0002g0058 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.97+7090T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172418 | |||||||
chr2:189172441 | G | A | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+7067C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172441 | |||||||
chr2:189172657 | A | G | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+6851T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172657 | |||||||
chr2:189172733 | A | G | 5 | a0001c0001t0001g0162 a0001c0005t0002g0171 a0001c0005t0002g0173 others(2): Show |
5 | HG00423.hp2 HG00609.hp2 HG02135.hp2 others(2): Show |
intron_variant | MODIFIER | c.97+6775T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172733 | |||||||
chr2:189172737 | T | C | 1 | a0001c0001t0001g0116 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.97+6771A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172737 | |||||||
chr2:189172968 | C | CT | 77 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0155 others(74): Show |
78 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(75): Show |
intron_variant | MODIFIER | c.97+6539dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172968 | |||||||
chr2:189172968 | C | CTT | 8 | a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0003t0001g0163 others(5): Show |
8 | HG01106.hp1 HG01358.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.97+6538_97+6539dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172968 | |||||||
chr2:189172968 | CT | C | 90 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(87): Show |
93 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.97+6539delA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172968 | |||||||
chr2:189172993 | C | T | 3 | a0001c0001t0001g0144 a0001c0001t0013g0145 a0001c0025t0001g0125 |
3 | HG03041.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.97+6515G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189172993 | |||||||
chr2:189173028 | T | A | 1 | a0001c0001t0001g0121 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.97+6480A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173028 | |||||||
chr2:189173074 | G | A | 1 | a0001c0001t0001g0239 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.97+6434C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173074 | |||||||
chr2:189173096 | G | A | 95 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(92): Show |
98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+6412C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173096 | |||||||
chr2:189173159 | A | G | 12 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(9): Show |
12 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.97+6349T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173159 | |||||||
chr2:189173208 | A | C | 1 | a0009c0023t0004g0051 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.97+6300T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173208 | |||||||
chr2:189173250 | A | G | 1 | a0001c0001t0001g0050 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.97+6258T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173250 | |||||||
chr2:189173316 | T | C | 1 | a0001c0001t0001g0117 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.97+6192A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173316 | |||||||
chr2:189173331 | T | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+6177A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173331 | |||||||
chr2:189173380 | C | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+6128G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173380 | |||||||
chr2:189173509 | C | A | 95 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(92): Show |
98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+5999G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173509 | |||||||
chr2:189173597 | G | A | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+5911C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173597 | |||||||
chr2:189173635 | A | G | 1 | a0001c0001t0004g0005 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.97+5873T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173635 | |||||||
chr2:189173901 | C | T | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5607G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173901 | |||||||
chr2:189173929 | A | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5579T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173929 | |||||||
chr2:189173963 | G | T | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5545C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189173963 | |||||||
chr2:189174011 | T | C | 92 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(89): Show |
93 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.97+5497A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174011 | |||||||
chr2:189174188 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.97+5320G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174188 | |||||||
chr2:189174244 | G | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5264C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174244 | |||||||
chr2:189174483 | T | C | 1 | a0001c0001t0001g0239 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.97+5025A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174483 | |||||||
chr2:189174508 | G | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+5000C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174508 | |||||||
chr2:189174716 | T | A | 1 | a0001c0026t0015g0003 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.97+4792A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174716 | |||||||
chr2:189174768 | G | A | 95 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(92): Show |
98 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.97+4740C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174768 | |||||||
chr2:189174832 | A | G | 3 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0002t0002g0048 |
3 | HG02293.hp1 NA18612.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.97+4676T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174832 | |||||||
chr2:189174849 | T | G | 35 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(32): Show |
35 | HG00099.hp1 HG00597.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.97+4659A>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174849 | |||||||
chr2:189174897 | G | A | 89 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(86): Show |
90 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(87): Show |
intron_variant | MODIFIER | c.97+4611C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189174897 | |||||||
chr2:189175234 | T | A | 4 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 others(1): Show |
4 | HG01069.hp1 HG02630.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+4274A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175234 | |||||||
chr2:189175363 | C | T | 2 | a0001c0001t0001g0004 a0001c0001t0004g0043 |
2 | HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+4145G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175363 | |||||||
chr2:189175421 | T | A | 22 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(19): Show |
22 | HG00099.hp1 HG00597.hp1 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.97+4087A>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175421 | |||||||
chr2:189175544 | C | CT | 92 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(89): Show |
95 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.97+3963dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175544 | |||||||
chr2:189175544 | C | CTT | 6 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0055 others(3): Show |
6 | HG01167.hp1 HG01258.hp1 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.97+3962_97+3963dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175544 | |||||||
chr2:189175562 | TAGAC | T | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+3942_97+3945del others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175562 | |||||||
chr2:189175629 | C | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(96): Show |
102 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(99): Show |
intron_variant | MODIFIER | c.97+3879G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175629 | |||||||
chr2:189175706 | C | T | 2 | a0001c0001t0003g0127 a0001c0001t0003g0128 |
2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.97+3802G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175706 | |||||||
chr2:189175709 | C | T | 94 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(91): Show |
97 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(94): Show |
intron_variant | MODIFIER | c.97+3799G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175709 | |||||||
chr2:189175860 | C | A | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.97+3648G>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189175860 | |||||||
chr2:189176198 | A | G | 1 | a0001c0001t0001g0010 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.97+3310T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176198 | |||||||
chr2:189176320 | T | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+3188A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176320 | |||||||
chr2:189176501 | C | G | 12 | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(9): Show |
12 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.97+3007G>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176501 | |||||||
chr2:189176512 | C | T | 1 | a0001c0002t0009g0143 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.97+2996G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176512 | |||||||
chr2:189176604 | C | T | 4 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0043 others(1): Show |
4 | HG01069.hp1 HG02630.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+2904G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176604 | |||||||
chr2:189176707 | G | GCA | 4 | a0001c0001t0001g0119 a0001c0001t0001g0121 a0003c0014t0001g0039 others(1): Show |
4 | HG01069.hp2 HG01081.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+2799_97+2800dup others(2): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176707 | |||||||
chr2:189176718 | C | T | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+2790G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176718 | |||||||
chr2:189176806 | G | A | 2 | a0001c0001t0001g0122 a0007c0020t0001g0123 |
2 | HG00408.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.97+2702C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176806 | |||||||
chr2:189176810 | A | AT | 5 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(2): Show |
5 | HG01884.hp1 HG02895.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.97+2697dupA | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189176810 | |||||||
chr2:189177035 | C | T | 241 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(238): Show |
245 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.97+2473G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177035 | |||||||
chr2:189177668 | G | A | 1 | a0001c0001t0008g0240 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.97+1840C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177668 | |||||||
chr2:189177672 | G | C | 1 | a0001c0001t0001g0124 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.97+1836C>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177672 | |||||||
chr2:189177758 | A | G | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.97+1750T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177758 | |||||||
chr2:189177825 | A | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+1683T>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177825 | |||||||
chr2:189177888 | A | G | 1 | a0001c0001t0001g0041 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.97+1620T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189177888 | |||||||
chr2:189178059 | T | TCTTA | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+1448_97+1449ins others(4): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178059 | |||||||
chr2:189178183 | C | T | 137 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(134): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.97+1325G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178183 | |||||||
chr2:189178287 | T | C | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+1221A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178287 | |||||||
chr2:189178313 | T | C | 1 | a0001c0001t0024g0241 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.97+1195A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178313 | |||||||
chr2:189178394 | A | G | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+1114T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178394 | |||||||
chr2:189178472 | G | A | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+1036C>T | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178472 | |||||||
chr2:189178528 | T | C | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+980A>G | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178528 | |||||||
chr2:189178530 | C | T | 2 | a0001c0012t0010g0040 a0001c0012t0010g0126 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.97+978G>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178530 | |||||||
chr2:189178709 | T | TA | 88 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(85): Show |
89 | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(86): Show |
intron_variant | MODIFIER | c.97+798dupT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178709 | |||||||
chr2:189178709 | TA | T | 87 | a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0042 others(84): Show |
90 | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(87): Show |
intron_variant | MODIFIER | c.97+798delT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178709 | |||||||
chr2:189178709 | TAA | T | 33 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(30): Show |
33 | HG00099.hp1 HG00597.hp1 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.97+797_97+798delTT | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178709 | |||||||
chr2:189178735 | G | T | 4 | a0001c0001t0023g0009 a0001c0007t0005g0006 a0001c0007t0005g0007 others(1): Show |
4 | NA18977.hp1 NA19006.hp1 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.97+773C>A | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178735 | |||||||
chr2:189178781 | A | G | 3 | a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0026t0015g0003 |
3 | HG01069.hp1 HG02630.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.97+727T>C | COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | 189178781 |