Item | Value |
---|---|
geneid | 1292 |
ensemblid | ENSG00000142173.17 |
hgncid | 2212 |
symbol | COL6A2 |
name | collagen type VI alpha 2 chain |
refseq_nuc | NM_058174.3 |
refseq_prot | NP_478054.2 |
ensembl_nuc | ENST00000397763.6 |
ensembl_prot | ENSP00000380870.1 |
mane_status | MANE Plus Clinical |
chr | chr21 |
start | 46098112 |
end | 46129801 |
strand | + |
ver | v1.2 |
region | chr21:46098112-46129801 |
region5000 | chr21:46093112-46134801 |
regionname0 | COL6A2_chr21_46098112_46129801 |
regionname5000 | COL6A2_chr21_46093112_46134801 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 36 | 256 | 42 | 52 | 125 | 11 | 25 | 99 | COL6A2_chr21_46093112_46134801 | COL6A2 | MLQGT others(31): Show |
chr21 | 46093112 | 46134801 |
a0002 | 1/0 | 918 | 58 | 22 | 4 | 13 | 3 | 15 | 4 | COL6A2_chr21_46093112_46134801 | COL6A2 | MLQGT others(913): Show |
chr21 | 46093112 | 46134801 |
a0003 | 0/0 | 918 | 48 | 18 | 6 | 18 | 3 | 3 | 13 | COL6A2_chr21_46093112_46134801 | COL6A2 | MLQGT others(913): Show |
chr21 | 46093112 | 46134801 |
a0004 | 0/0 | 918 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | MLQGT others(913): Show |
chr21 | 46093112 | 46134801 |
a0005 | 0/0 | 918 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | MLQGT others(913): Show |
chr21 | 46093112 | 46134801 |
a0006 | 0/0 | 918 | 2 | 0 | 0 | 1 | 1 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | MLQGT others(913): Show |
chr21 | 46093112 | 46134801 |
a0007 | 0/0 | 918 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | MLQGT others(913): Show |
chr21 | 46093112 | 46134801 |
a0008 | 0/0 | 918 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | MLQGT others(913): Show |
chr21 | 46093112 | 46134801 |
a0009 | 0/0 | 918 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | MLQGT others(913): Show |
chr21 | 46093112 | 46134801 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 2749 | 104 | 4 | 22 | 63 | 2 | 12 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0002 | 0/0 | 2749 | 83 | 8 | 11 | 55 | 4 | 5 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0005 | 0/0 | 2749 | 25 | 6 | 11 | 0 | 4 | 4 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0006 | 0/0 | 2749 | 15 | 13 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0009 | 0/0 | 2749 | 6 | 4 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0010 | 0/0 | 2749 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0011 | 0/0 | 2749 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0012 | 0/0 | 2749 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0013 | 0/0 | 2749 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0014 | 0/0 | 2749 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0019 | 0/0 | 2749 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0020 | 0/0 | 2749 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0021 | 0/0 | 2749 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0022 | 0/0 | 2749 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0023 | 0/0 | 2749 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0024 | 0/0 | 2749 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0025 | 0/0 | 2749 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0026 | 0/0 | 2749 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0027 | 0/0 | 2749 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0028 | 0/0 | 2749 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0029 | 0/0 | 2749 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0030 | 0/0 | 2749 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0001c0031 | 0/0 | 2749 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2744): Show |
chr21 | 46093112 | 46134801 | ||
a0002c0003 | 1/0 | 2754 | 46 | 11 | 4 | 13 | 3 | 14 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0002c0008 | 0/0 | 2754 | 9 | 9 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0002c0034 | 0/0 | 2754 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0002c0039 | 0/0 | 2754 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0002c0040 | 0/0 | 2754 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0003c0004 | 0/0 | 2754 | 28 | 15 | 4 | 7 | 1 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0003c0007 | 0/0 | 2754 | 14 | 1 | 1 | 8 | 2 | 2 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0003c0017 | 0/0 | 2754 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0003c0018 | 0/0 | 2754 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0003c0033 | 0/0 | 2754 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0003c0041 | 0/0 | 2754 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0004c0016 | 0/0 | 2754 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0004c0035 | 0/0 | 2754 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0005c0037 | 0/0 | 2754 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0005c0038 | 0/0 | 2754 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0006c0015 | 0/0 | 2754 | 2 | 0 | 0 | 1 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0007c0036 | 0/0 | 2754 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0008c0042 | 0/0 | 2754 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 | ||
a0009c0032 | 0/0 | 2754 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | ATGCT others(2749): Show |
chr21 | 46093112 | 46134801 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 3151 | 104 | 4 | 22 | 63 | 2 | 12 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0002t0002 | 0/0 | 3151 | 68 | 8 | 4 | 52 | 0 | 4 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0002t0005 | 0/0 | 3151 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0002t0007 | 0/0 | 3151 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0002t0009 | 0/0 | 3151 | 7 | 0 | 4 | 0 | 3 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0002t0010 | 0/0 | 3151 | 4 | 0 | 3 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0002t0012 | 0/0 | 3151 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0002t0013 | 0/0 | 3151 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0005t0001 | 0/0 | 3151 | 20 | 4 | 11 | 0 | 2 | 3 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0005t0002 | 0/0 | 3151 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0005t0003 | 0/0 | 3151 | 4 | 1 | 0 | 0 | 2 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0006t0005 | 0/0 | 3151 | 7 | 7 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0006t0006 | 0/0 | 3151 | 7 | 6 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0006t0008 | 0/0 | 3151 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0009t0001 | 0/0 | 3151 | 6 | 4 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0010t0001 | 0/0 | 3151 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0011t0001 | 0/0 | 3151 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0012t0001 | 0/0 | 3151 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0013t0002 | 0/0 | 3151 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0014t0002 | 0/0 | 3151 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0019t0002 | 0/0 | 3151 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0020t0001 | 0/0 | 3151 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0021t0001 | 0/0 | 3151 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0022t0006 | 0/0 | 3151 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0023t0001 | 0/0 | 3151 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0024t0001 | 0/0 | 3151 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0025t0002 | 0/0 | 3151 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0026t0006 | 0/0 | 3151 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0027t0003 | 0/0 | 3151 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0028t0006 | 0/0 | 3151 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0029t0001 | 0/0 | 3151 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0030t0001 | 0/0 | 3151 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0001c0031t0002 | 0/0 | 3151 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3146): Show |
chr21 | 46093112 | 46134801 |
a0002c0003t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0003t0003 | 1/0 | 3156 | 35 | 4 | 4 | 10 | 3 | 13 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0003t0006 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0003t0008 | 0/0 | 3156 | 6 | 4 | 0 | 1 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0003t0015 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0003t0016 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0008t0001 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0008t0005 | 0/0 | 3156 | 7 | 7 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0034t0008 | 0/0 | 3156 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0039t0003 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0002c0040t0003 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0004t0001 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0004t0002 | 0/0 | 3156 | 4 | 1 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0004t0003 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0004t0004 | 0/0 | 3156 | 18 | 10 | 4 | 2 | 1 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0004t0006 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0004t0011 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0004t0014 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0007t0001 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0007t0002 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0007t0003 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0007t0007 | 0/0 | 3156 | 11 | 0 | 1 | 6 | 2 | 2 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0017t0002 | 0/0 | 3156 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0018t0003 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0033t0007 | 0/0 | 3156 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0003c0041t0002 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0004c0016t0003 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0004c0035t0003 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0005c0037t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0005c0038t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0006c0015t0001 | 0/0 | 3156 | 2 | 0 | 0 | 1 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0007c0036t0008 | 0/0 | 3156 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0008c0042t0002 | 0/0 | 3156 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
a0009c0032t0006 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | CCCTG others(3151): Show |
chr21 | 46093112 | 46134801 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0003 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0005 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0008 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0013 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0014 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0171 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0001t0001g0333 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0001 | 0/0 | 8 | 0 | 1 | 6 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0004 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0018 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0019 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0021 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0275 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0312 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0313 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0320 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0322 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0323 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0327 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0328 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0002g0329 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0005g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0007g0198 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0009g0022 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0009g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0009g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0009g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0009g0330 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0009g0334 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0010g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0010g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0010g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0010g0321 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0012g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0002t0013g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0002 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0001g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0002g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0003g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0003g0011 | 0/0 | 2 | 0 | 0 | 0 | 1 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0005t0003g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0005g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0005g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0005g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0005g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0005g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0005g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0005g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0006g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0006g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0006g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0006g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0006g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0006g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0006g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0006t0008g0300 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0009t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0009t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0009t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0009t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0009t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0009t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0010t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0010t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0011t0001g0331 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0011t0001g0332 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0012t0001g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0012t0001g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0013t0002g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0013t0002g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0014t0002g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0014t0002g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0019t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0020t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0021t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0022t0006g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0023t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0024t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0025t0002g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0026t0006g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0027t0003g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0028t0006g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0029t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0030t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0001c0031t0002g0296 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0009 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0074 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0081 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0082 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0003g0266 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0006g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0006g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0008g0218 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0008g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0008g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0008g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0008g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0008g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0015g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0003t0016g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0008t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0008t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0008t0005g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0008t0005g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0008t0005g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0008t0005g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0008t0005g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0008t0005g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0008t0005g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0034t0008g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0039t0003g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0002c0040t0003g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0001g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0002g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0002g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0002g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0002g0324 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0003g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0017 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0216 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0004g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0006g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0011g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0011g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0004t0014g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0003g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0016 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0007t0007g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0017t0002g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0017t0002g0310 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0018t0003g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0018t0003g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0033t0007g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0003c0041t0002g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0004c0016t0003g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0004c0016t0003g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0004c0035t0003g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0005c0037t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0005c0038t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0006c0015t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0006c0015t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0007c0036t0008g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0008c0042t0002g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
a0009c0032t0006g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0002 | c0003 | t0003 | g0082 | EUR | GBR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00099 | hp2 | a0002 | c0003 | t0003 | g0074 | EUR | GBR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00140 | hp1 | a0001 | c0001 | t0001 | g0107 | EUR | GBR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00140 | hp2 | a0001 | c0002 | t0009 | g0262 | EUR | GBR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00280 | hp1 | a0001 | c0001 | t0001 | g0128 | EUR | FIN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00280 | hp2 | a0001 | c0005 | t0003 | g0002 | EUR | FIN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00323 | hp1 | a0001 | c0005 | t0003 | g0011 | EUR | FIN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00323 | hp2 | a0002 | c0003 | t0003 | g0081 | EUR | FIN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00423 | hp1 | a0001 | c0002 | t0002 | g0269 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00423 | hp2 | a0003 | c0007 | t0007 | g0202 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00438 | hp1 | a0002 | c0003 | t0003 | g0030 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00438 | hp2 | a0003 | c0004 | t0004 | g0099 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00544 | hp1 | a0002 | c0003 | t0003 | g0028 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00544 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00597 | hp1 | a0003 | c0007 | t0007 | g0192 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00597 | hp2 | a0003 | c0007 | t0002 | g0026 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00621 | hp1 | a0002 | c0003 | t0003 | g0085 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00621 | hp2 | a0002 | c0003 | t0016 | g0087 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00639 | hp1 | a0003 | c0004 | t0004 | g0209 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00639 | hp2 | a0001 | c0006 | t0008 | g0300 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00673 | hp1 | a0001 | c0002 | t0002 | g0306 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00673 | hp2 | a0003 | c0004 | t0002 | g0257 | EAS | CHS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00733 | hp1 | a0002 | c0003 | t0003 | g0009 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0142 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00735 | hp1 | a0001 | c0002 | t0010 | g0291 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00735 | hp2 | a0001 | c0002 | t0009 | g0022 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00738 | hp1 | a0001 | c0002 | t0009 | g0253 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0183 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00741 | hp1 | a0001 | c0002 | t0010 | g0125 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG00741 | hp2 | a0001 | c0005 | t0001 | g0120 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01069 | hp1 | a0001 | c0001 | t0001 | g0176 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0014 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0156 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01070 | hp2 | a0001 | c0005 | t0001 | g0041 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01071 | hp1 | a0001 | c0005 | t0001 | g0152 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01071 | hp2 | a0001 | c0001 | t0001 | g0141 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01074 | hp1 | a0003 | c0004 | t0004 | g0212 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01074 | hp2 | a0001 | c0002 | t0010 | g0292 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0039 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01099 | hp2 | a0001 | c0002 | t0009 | g0259 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01106 | hp1 | a0001 | c0002 | t0009 | g0022 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0043 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01109 | hp1 | a0003 | c0004 | t0004 | g0195 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01109 | hp2 | a0002 | c0003 | t0003 | g0009 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01168 | hp1 | a0001 | c0002 | t0002 | g0275 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01168 | hp2 | a0001 | c0005 | t0001 | g0162 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01169 | hp1 | a0001 | c0002 | t0002 | g0267 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0182 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0143 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0333 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01243 | hp1 | a0003 | c0033 | t0007 | g0199 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01243 | hp2 | a0001 | c0012 | t0001 | g0254 | AMR | PUR | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01255 | hp1 | a0001 | c0005 | t0001 | g0168 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01255 | hp2 | a0002 | c0003 | t0003 | g0089 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0134 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01256 | hp2 | a0001 | c0005 | t0001 | g0002 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01257 | hp1 | a0001 | c0009 | t0001 | g0117 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01257 | hp2 | a0003 | c0004 | t0004 | g0196 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01258 | hp1 | a0001 | c0005 | t0001 | g0114 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01258 | hp2 | a0001 | c0009 | t0001 | g0108 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01261 | hp2 | a0001 | c0006 | t0006 | g0236 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01346 | hp1 | a0001 | c0011 | t0001 | g0332 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01346 | hp2 | a0001 | c0005 | t0001 | g0261 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01433 | hp1 | a0002 | c0003 | t0003 | g0225 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0035 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01496 | hp1 | a0001 | c0005 | t0001 | g0002 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01515 | hp1 | a0001 | c0002 | t0009 | g0330 | EUR | IBS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01515 | hp2 | a0001 | c0005 | t0001 | g0154 | EUR | IBS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01516 | hp1 | a0003 | c0007 | t0007 | g0016 | EUR | IBS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01516 | hp2 | a0001 | c0029 | t0001 | g0140 | EUR | IBS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01517 | hp1 | a0001 | c0002 | t0009 | g0334 | EUR | IBS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01517 | hp2 | a0003 | c0007 | t0007 | g0016 | EUR | IBS | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01884 | hp1 | a0003 | c0004 | t0004 | g0017 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01884 | hp2 | a0001 | c0005 | t0001 | g0326 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01891 | hp1 | a0001 | c0006 | t0005 | g0235 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01891 | hp2 | a0001 | c0009 | t0001 | g0113 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01928 | hp1 | a0001 | c0020 | t0001 | g0178 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0013 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01952 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01952 | hp2 | a0001 | c0002 | t0002 | g0322 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01975 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01975 | hp2 | a0001 | c0002 | t0002 | g0001 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01978 | hp1 | a0001 | c0005 | t0001 | g0260 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0130 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01981 | hp2 | a0003 | c0007 | t0007 | g0193 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02015 | hp2 | a0001 | c0002 | t0002 | g0327 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02040 | hp1 | a0002 | c0003 | t0015 | g0075 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02040 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02055 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02055 | hp2 | a0002 | c0003 | t0008 | g0219 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02056 | hp2 | a0001 | c0023 | t0001 | g0036 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02071 | hp1 | a0001 | c0002 | t0002 | g0297 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02071 | hp2 | a0002 | c0003 | t0003 | g0031 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02074 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02074 | hp2 | a0001 | c0002 | t0002 | g0255 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02080 | hp1 | a0001 | c0002 | t0002 | g0276 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0185 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02083 | hp2 | a0002 | c0003 | t0008 | g0220 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02132 | hp1 | a0001 | c0002 | t0002 | g0295 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02132 | hp2 | a0002 | c0003 | t0003 | g0083 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02135 | hp1 | a0002 | c0003 | t0003 | g0090 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0040 | EAS | KHV | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02145 | hp1 | a0002 | c0008 | t0005 | g0025 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02145 | hp2 | a0003 | c0004 | t0011 | g0190 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02165 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | CDX | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | CDX | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02257 | hp1 | a0002 | c0008 | t0005 | g0032 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02257 | hp2 | a0002 | c0003 | t0006 | g0067 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02258 | hp1 | a0003 | c0004 | t0004 | g0017 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02258 | hp2 | a0001 | c0005 | t0001 | g0325 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0149 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0144 | AMR | PEL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02280 | hp1 | a0001 | c0012 | t0001 | g0237 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02280 | hp2 | a0002 | c0008 | t0005 | g0033 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02451 | hp1 | a0003 | c0004 | t0004 | g0206 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02451 | hp2 | a0002 | c0008 | t0005 | g0091 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02602 | hp1 | a0001 | c0005 | t0001 | g0187 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02602 | hp2 | a0003 | c0004 | t0004 | g0047 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02615 | hp1 | a0003 | c0004 | t0003 | g0191 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02615 | hp2 | a0001 | c0006 | t0005 | g0064 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0124 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02622 | hp2 | a0002 | c0008 | t0005 | g0073 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02630 | hp1 | a0001 | c0002 | t0002 | g0250 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02630 | hp2 | a0001 | c0005 | t0001 | g0102 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0238 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02647 | hp2 | a0004 | c0035 | t0003 | g0098 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0133 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0132 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02698 | hp1 | a0002 | c0003 | t0003 | g0088 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02698 | hp2 | a0001 | c0030 | t0001 | g0157 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02717 | hp1 | a0002 | c0008 | t0001 | g0095 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02717 | hp2 | a0003 | c0004 | t0011 | g0197 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02723 | hp1 | a0001 | c0002 | t0002 | g0286 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02723 | hp2 | a0003 | c0004 | t0004 | g0208 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02809 | hp1 | a0002 | c0040 | t0003 | g0229 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02809 | hp2 | a0001 | c0005 | t0003 | g0248 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02818 | hp1 | a0003 | c0018 | t0003 | g0239 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02818 | hp2 | a0002 | c0003 | t0003 | g0227 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02886 | hp1 | a0003 | c0004 | t0004 | g0204 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02886 | hp2 | a0001 | c0006 | t0006 | g0264 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02896 | hp1 | a0001 | c0009 | t0001 | g0145 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02896 | hp2 | a0001 | c0006 | t0006 | g0246 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02897 | hp1 | a0001 | c0006 | t0006 | g0263 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02897 | hp2 | a0001 | c0006 | t0006 | g0245 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02922 | hp1 | a0002 | c0003 | t0001 | g0070 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02922 | hp2 | a0001 | c0002 | t0002 | g0278 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02965 | hp1 | a0001 | c0022 | t0006 | g0052 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02965 | hp2 | a0002 | c0003 | t0006 | g0069 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02970 | hp1 | a0002 | c0003 | t0008 | g0221 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02970 | hp2 | a0001 | c0021 | t0001 | g0177 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02976 | hp1 | a0001 | c0028 | t0006 | g0244 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02976 | hp2 | a0002 | c0003 | t0008 | g0223 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03017 | hp1 | a0002 | c0003 | t0003 | g0059 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03017 | hp2 | a0001 | c0005 | t0003 | g0011 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03098 | hp1 | a0001 | c0006 | t0005 | g0058 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03098 | hp2 | a0002 | c0003 | t0008 | g0224 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03139 | hp1 | a0001 | c0002 | t0002 | g0308 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03139 | hp2 | a0001 | c0025 | t0002 | g0279 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03195 | hp1 | a0003 | c0004 | t0004 | g0231 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03195 | hp2 | a0002 | c0003 | t0003 | g0228 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03209 | hp1 | a0001 | c0026 | t0006 | g0051 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03209 | hp2 | a0001 | c0009 | t0001 | g0123 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03225 | hp1 | a0001 | c0009 | t0001 | g0122 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03225 | hp2 | a0003 | c0004 | t0004 | g0217 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03239 | hp1 | a0002 | c0003 | t0003 | g0084 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03239 | hp2 | a0003 | c0007 | t0007 | g0045 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03453 | hp1 | a0001 | c0006 | t0005 | g0234 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03453 | hp2 | a0003 | c0018 | t0003 | g0240 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03486 | hp1 | a0001 | c0002 | t0002 | g0317 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03486 | hp2 | a0003 | c0004 | t0006 | g0207 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03490 | hp1 | a0002 | c0003 | t0003 | g0079 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03490 | hp2 | a0001 | c0010 | t0001 | g0188 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03491 | hp1 | a0001 | c0002 | t0002 | g0019 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03491 | hp2 | a0002 | c0003 | t0003 | g0060 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03492 | hp1 | a0001 | c0010 | t0001 | g0169 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03492 | hp2 | a0001 | c0002 | t0002 | g0019 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03516 | hp1 | a0003 | c0004 | t0002 | g0046 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0109 | AFR | ESN | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03540 | hp1 | a0001 | c0002 | t0002 | g0329 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03540 | hp2 | a0004 | c0016 | t0003 | g0097 | AFR | GWD | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03579 | hp1 | a0001 | c0006 | t0006 | g0265 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03579 | hp2 | a0001 | c0005 | t0002 | g0174 | AFR | MSL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03669 | hp1 | a0002 | c0003 | t0003 | g0056 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03669 | hp2 | a0001 | c0002 | t0002 | g0001 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0173 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03688 | hp2 | a0001 | c0005 | t0001 | g0111 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03704 | hp1 | a0002 | c0003 | t0003 | g0080 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03704 | hp2 | a0001 | c0005 | t0001 | g0038 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03710 | hp1 | a0002 | c0034 | t0008 | g0048 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0230 | SAS | PJL | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03831 | hp1 | a0002 | c0003 | t0003 | g0023 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03831 | hp2 | a0002 | c0003 | t0003 | g0027 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0061 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0135 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03927 | hp1 | a0001 | c0001 | t0001 | g0034 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03927 | hp2 | a0001 | c0031 | t0002 | g0296 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03942 | hp1 | a0002 | c0003 | t0003 | g0053 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0055 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04115 | hp1 | a0001 | c0002 | t0010 | g0321 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04115 | hp2 | a0007 | c0036 | t0008 | g0222 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04184 | hp1 | a0002 | c0003 | t0003 | g0024 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04184 | hp2 | a0001 | c0002 | t0002 | g0290 | SAS | BEB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0126 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04199 | hp2 | a0003 | c0007 | t0007 | g0200 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04204 | hp1 | a0002 | c0003 | t0008 | g0218 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04204 | hp2 | a0002 | c0003 | t0003 | g0057 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0127 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG04228 | hp2 | a0002 | c0003 | t0003 | g0054 | SAS | STU | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18522 | hp1 | a0003 | c0004 | t0004 | g0214 | AFR | YRI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18522 | hp2 | a0005 | c0037 | t0001 | g0092 | AFR | YRI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | CHB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | CHB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0165 | EAS | CHB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18747 | hp2 | a0001 | c0019 | t0002 | g0020 | EAS | CHB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18906 | hp1 | a0002 | c0008 | t0005 | g0065 | AFR | YRI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18906 | hp2 | a0001 | c0006 | t0005 | g0063 | AFR | YRI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18941 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18941 | hp2 | a0003 | c0007 | t0007 | g0203 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18942 | hp1 | a0001 | c0024 | t0001 | g0012 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18942 | hp2 | a0001 | c0002 | t0002 | g0020 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18943 | hp1 | a0001 | c0002 | t0002 | g0318 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18944 | hp1 | a0003 | c0007 | t0007 | g0044 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18944 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18945 | hp2 | a0001 | c0002 | t0002 | g0320 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18948 | hp1 | a0001 | c0002 | t0002 | g0314 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18948 | hp2 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18949 | hp1 | a0003 | c0007 | t0007 | g0050 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18949 | hp2 | a0001 | c0002 | t0002 | g0273 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18950 | hp2 | a0001 | c0002 | t0002 | g0281 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18951 | hp1 | a0001 | c0002 | t0002 | g0293 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18952 | hp2 | a0001 | c0002 | t0002 | g0007 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18954 | hp1 | a0001 | c0013 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18954 | hp2 | a0001 | c0001 | t0001 | g0189 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18964 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18965 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18965 | hp2 | a0001 | c0002 | t0002 | g0316 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18966 | hp2 | a0001 | c0002 | t0002 | g0007 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18971 | hp1 | a0001 | c0002 | t0002 | g0252 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18971 | hp2 | a0001 | c0002 | t0002 | g0018 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18972 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18972 | hp2 | a0001 | c0001 | t0001 | g0271 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18975 | hp1 | a0001 | c0002 | t0002 | g0299 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18975 | hp2 | a0001 | c0002 | t0002 | g0256 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18977 | hp1 | a0003 | c0004 | t0004 | g0205 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18977 | hp2 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18978 | hp1 | a0001 | c0002 | t0002 | g0312 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18978 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18979 | hp1 | a0001 | c0002 | t0002 | g0328 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18979 | hp2 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18980 | hp1 | a0003 | c0017 | t0002 | g0310 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18980 | hp2 | a0001 | c0002 | t0013 | g0288 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18981 | hp1 | a0001 | c0001 | t0001 | g0241 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18981 | hp2 | a0001 | c0002 | t0002 | g0274 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18982 | hp1 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18982 | hp2 | a0003 | c0004 | t0002 | g0311 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18984 | hp1 | a0001 | c0001 | t0001 | g0301 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18984 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18985 | hp1 | a0002 | c0003 | t0003 | g0072 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18985 | hp2 | a0001 | c0002 | t0002 | g0287 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18986 | hp1 | a0003 | c0004 | t0001 | g0309 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18986 | hp2 | a0001 | c0002 | t0002 | g0280 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18988 | hp2 | a0001 | c0002 | t0002 | g0277 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18989 | hp1 | a0008 | c0042 | t0002 | g0284 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18989 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18990 | hp1 | a0001 | c0001 | t0001 | g0304 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18994 | hp1 | a0001 | c0001 | t0001 | g0242 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18994 | hp2 | a0003 | c0007 | t0007 | g0194 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18998 | hp1 | a0001 | c0002 | t0002 | g0006 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18999 | hp1 | a0003 | c0004 | t0014 | g0213 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18999 | hp2 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19000 | hp2 | a0003 | c0004 | t0002 | g0324 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19003 | hp2 | a0001 | c0002 | t0002 | g0294 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19005 | hp1 | a0001 | c0002 | t0002 | g0006 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19009 | hp1 | a0001 | c0001 | t0001 | g0302 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19009 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19010 | hp1 | a0001 | c0002 | t0002 | g0315 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19010 | hp2 | a0001 | c0002 | t0012 | g0285 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19012 | hp1 | a0001 | c0002 | t0002 | g0018 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19012 | hp2 | a0001 | c0002 | t0002 | g0303 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19030 | hp1 | a0002 | c0003 | t0003 | g0071 | AFR | LWK | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19030 | hp2 | a0001 | c0027 | t0003 | g0249 | AFR | LWK | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19043 | hp1 | a0001 | c0002 | t0002 | g0251 | AFR | LWK | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19043 | hp2 | a0009 | c0032 | t0006 | g0226 | AFR | LWK | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19054 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19054 | hp2 | a0001 | c0002 | t0002 | g0006 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19055 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19055 | hp2 | a0001 | c0014 | t0002 | g0319 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19056 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19056 | hp2 | a0001 | c0002 | t0002 | g0298 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19057 | hp1 | a0001 | c0002 | t0005 | g0289 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19057 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19060 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19065 | hp1 | a0001 | c0002 | t0002 | g0021 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19065 | hp2 | a0002 | c0003 | t0003 | g0078 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19066 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19068 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19068 | hp2 | a0003 | c0007 | t0001 | g0201 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19070 | hp1 | a0002 | c0003 | t0003 | g0077 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19070 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19079 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19079 | hp2 | a0001 | c0002 | t0002 | g0021 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19080 | hp1 | a0002 | c0003 | t0003 | g0076 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19080 | hp2 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19082 | hp2 | a0003 | c0017 | t0002 | g0307 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19083 | hp1 | a0001 | c0002 | t0002 | g0313 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19083 | hp2 | a0006 | c0015 | t0001 | g0159 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19084 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19084 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19087 | hp2 | a0001 | c0013 | t0002 | g0272 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19088 | hp2 | a0001 | c0014 | t0002 | g0007 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19089 | hp1 | a0001 | c0002 | t0002 | g0268 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19089 | hp2 | a0001 | c0001 | t0001 | g0282 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19090 | hp2 | a0001 | c0002 | t0002 | g0305 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19091 | hp2 | a0001 | c0002 | t0002 | g0283 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19240 | hp1 | a0003 | c0004 | t0004 | g0210 | AFR | YRI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA19240 | hp2 | a0001 | c0002 | t0002 | g0323 | AFR | YRI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA20129 | hp1 | a0001 | c0005 | t0001 | g0131 | AFR | ASW | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA20129 | hp2 | a0005 | c0038 | t0001 | g0093 | AFR | ASW | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA20752 | hp1 | a0001 | c0002 | t0007 | g0198 | EUR | TSI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA20752 | hp2 | a0001 | c0005 | t0001 | g0106 | EUR | TSI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA20805 | hp1 | a0006 | c0015 | t0001 | g0086 | EUR | TSI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA20805 | hp2 | a0003 | c0004 | t0004 | g0216 | EUR | TSI | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0155 | SAS | GIH | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0215 | SAS | GIH | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01123 | hp1 | a0001 | c0011 | t0001 | g0331 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG01123 | hp2 | a0001 | c0005 | t0001 | g0002 | AMR | CLM | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02109 | hp1 | a0004 | c0016 | t0003 | g0096 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02109 | hp2 | a0002 | c0039 | t0003 | g0066 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02486 | hp1 | a0003 | c0004 | t0004 | g0211 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02486 | hp2 | a0002 | c0008 | t0005 | g0029 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02559 | hp1 | a0001 | c0006 | t0005 | g0062 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG02559 | hp2 | a0001 | c0006 | t0006 | g0247 | AFR | ACB | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG06807 | hp1 | a0002 | c0008 | t0001 | g0094 | AFR | USA | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
HG06807 | hp2 | a0003 | c0007 | t0003 | g0232 | AFR | USA | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18955 | hp1 | a0003 | c0041 | t0002 | g0258 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA18955 | hp2 | a0001 | c0002 | t0002 | g0270 | EAS | JPT | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA21309 | hp1 | a0002 | c0003 | t0003 | g0068 | AFR | LWK | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
NA21309 | hp2 | a0001 | c0006 | t0005 | g0233 | AFR | LWK | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0171 | REF | REF | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
homoSapiens | grch38p0 | a0002 | c0003 | t0003 | g0266 | REF | REF | COL6A2_chr21_46093112_46134801 | COL6A2 | chr21 | 46093112 | 46134801 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46111519 | C | G | 1 | a0008 | 1 | NA18989.hp1 | missense_variant | MODERATE | c.43C>G | p.Leu15Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/28 | 132/3156 | 43/2757 | 15/918 | chr21 | 46111519 | |||
chr21:46111520 | T | G | 1 | a0008 | 1 | NA18989.hp1 | missense_variant | MODERATE | c.44T>G | p.Leu15Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/28 | 133/3156 | 44/2757 | 15/918 | chr21 | 46111520 | |||
chr21:46112362 | G | A | 1 | a0009 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.499G>A | p.Gly167Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/28 | 588/3156 | 499/2757 | 167/918 | chr21 | 46112362 | |||
chr21:46112442 | C | G | 1 | a0001 | 1 | HG03927.hp2 | missense_variant | MODERATE | c.579C>G | p.Asn193Lys | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/28 | 668/3156 | 579/2757 | 193/918 | chr21 | 46112442 | |||
chr21:46112468 | G | A | 1 | a0001 | 1 | HG01928.hp1 | missense_variant | MODERATE | c.605G>A | p.Arg202Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/28 | 694/3156 | 605/2757 | 202/918 | chr21 | 46112468 | |||
chr21:46112542 | G | A | 1 | a0001 | 7 | HG01257.hp1 HG01258.hp2 HG01891.hp2 others(4): Show |
missense_variant | MODERATE | c.679G>A | p.Asp227Asn | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/28 | 768/3156 | 679/2757 | 227/918 | chr21 | 46112542 | |||
chr21:46115902 | G | A | 1 | a0001 | 1 | HG02965.hp1 | missense_variant | MODERATE | c.832G>A | p.Glu278Lys | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 6/28 | 921/3156 | 832/2757 | 278/918 | chr21 | 46115902 | |||
chr21:46117890 | C | G | 1 | a0001 | 1 | HG01516.hp2 | missense_variant | MODERATE | c.1070C>G | p.Pro357Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/28 | 1159/3156 | 1070/2757 | 357/918 | chr21 | 46117890 | |||
chr21:46119046 | G | A | 5 | a0001 a0003 a0006 others(2): Show |
290 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(287): Show |
missense_variant | MODERATE | c.1196G>A | p.Ser399Asn | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/28 | 1285/3156 | 1196/2757 | 399/918 | chr21 | 46119046 | |||
chr21:46121563 | G | A | 1 | a0004 | 3 | HG02109.hp1 HG02647.hp2 HG03540.hp2 |
missense_variant | MODERATE | c.1466G>A | p.Arg489Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/28 | 1555/3156 | 1466/2757 | 489/918 | chr21 | 46121563 | |||
chr21:46124685 | G | A | 1 | a0001 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.1706G>A | p.Arg569Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 22/28 | 1795/3156 | 1706/2757 | 569/918 | chr21 | 46124685 | |||
chr21:46125275 | G | A | 1 | a0001 | 2 | HG03490.hp2 HG03492.hp1 |
missense_variant | MODERATE | c.1780G>A | p.Val594Ile | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/28 | 1869/3156 | 1780/2757 | 594/918 | chr21 | 46125275 | |||
chr21:46125593 | G | A | 1 | a0007 | 1 | HG04115.hp2 | missense_variant | MODERATE | c.1945G>A | p.Ala649Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 25/28 | 2034/3156 | 1945/2757 | 649/918 | chr21 | 46125593 | |||
chr21:46125854 | G | A | 3 | a0001 a0005 a0006 |
150 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(147): Show |
missense_variant | MODERATE | c.2039G>A | p.Arg680His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2128/3156 | 2039/2757 | 680/918 | chr21 | 46125854 | |||
chr21:46126147 | G | A | 1 | a0001 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.2332G>A | p.Asp778Asn | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2421/3156 | 2332/2757 | 778/918 | chr21 | 46126147 | |||
chr21:46126166 | G | A | 1 | a0001 | 2 | HG01123.hp1 HG01346.hp1 |
missense_variant | MODERATE | c.2351G>A | p.Arg784His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2440/3156 | 2351/2757 | 784/918 | chr21 | 46126166 | |||
chr21:46126216 | A | G | 1 | a0001 | 2 | NA19055.hp2 NA19088.hp2 |
missense_variant | MODERATE | c.2401A>G | p.Met801Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2490/3156 | 2401/2757 | 801/918 | chr21 | 46126216 | |||
chr21:46129201 | C | A | 1 | a0001 | 2 | HG01243.hp2 HG02280.hp1 |
missense_variant | MODERATE | c.2467C>A | p.Pro823Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 2556/3156 | 2467/2757 | 823/918 | chr21 | 46129201 | |||
chr21:46129208 | C | A | 1 | a0001 | 1 | HG03139.hp2 | missense_variant | MODERATE | c.2474C>A | p.Pro825His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 2563/3156 | 2474/2757 | 825/918 | chr21 | 46129208 | |||
chr21:46129449 | G | C | 1 | a0001 | 3 | HG03927.hp2 NA18954.hp1 NA19087.hp2 |
missense_variant | MODERATE | c.2715G>C | p.Arg905Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 2804/3156 | 2715/2757 | 905/918 | chr21 | 46129449 | |||
chr21:46129801 | C | T | 4 | a0001 a0002 a0003 others(1): Show |
35 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(32): Show |
splice_region_variant | LOW | c.*310C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | chr21 | 46129801 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46112274 | G | A | 1 | a0001c0019 | 1 | NA18747.hp2 | synonymous_variant | LOW | c.411G>A | p.Ala137Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/28 | 500/3156 | 411/2757 | 137/918 | chr21 | 46112274 | |||
chr21:46112346 | C | T | 1 | a0003c0018 | 2 | HG02818.hp1 HG03453.hp2 |
synonymous_variant | LOW | c.483C>T | p.Thr161Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/28 | 572/3156 | 483/2757 | 161/918 | chr21 | 46112346 | |||
chr21:46112403 | C | A | 1 | a0008c0042 | 1 | NA18989.hp1 | synonymous_variant | LOW | c.540C>A | p.Ala180Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/28 | 629/3156 | 540/2757 | 180/918 | chr21 | 46112403 | |||
chr21:46112490 | C | T | 1 | a0001c0030 | 1 | HG02698.hp2 | synonymous_variant | LOW | c.627C>T | p.His209His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/28 | 716/3156 | 627/2757 | 209/918 | chr21 | 46112490 | |||
chr21:46112526 | C | T | 4 | a0003c0004 a0003c0017 a0003c0041 others(1): Show |
32 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(29): Show |
synonymous_variant | LOW | c.663C>T | p.Pro221Pro | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/28 | 752/3156 | 663/2757 | 221/918 | chr21 | 46112526 | |||
chr21:46116668 | C | T | 1 | a0002c0040 | 1 | HG02809.hp1 | synonymous_variant | LOW | c.945C>T | p.Asp315Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 9/28 | 1034/3156 | 945/2757 | 315/918 | chr21 | 46116668 | |||
chr21:46119065 | T | C | 1 | a0002c0034 | 1 | HG03710.hp1 | synonymous_variant | LOW | c.1215T>C | p.Pro405Pro | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/28 | 1304/3156 | 1215/2757 | 405/918 | chr21 | 46119065 | |||
chr21:46124662 | T | C | 1 | a0004c0035 | 1 | HG02647.hp2 | synonymous_variant | LOW | c.1683T>C | p.Gly561Gly | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 22/28 | 1772/3156 | 1683/2757 | 561/918 | chr21 | 46124662 | |||
chr21:46124911 | C | T | 1 | a0002c0039 | 1 | HG02109.hp2 | synonymous_variant | LOW | c.1761C>T | p.Pro587Pro | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/28 | 1850/3156 | 1761/2757 | 587/918 | chr21 | 46124911 | |||
chr21:46125909 | G | A | 15 | a0001c0001 a0001c0005 a0001c0009 others(12): Show |
150 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(147): Show |
synonymous_variant | LOW | c.2094G>A | p.Ala698Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2183/3156 | 2094/2757 | 698/918 | chr21 | 46125909 | |||
chr21:46125912 | C | T | 15 | a0001c0001 a0001c0005 a0001c0009 others(12): Show |
150 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(147): Show |
synonymous_variant | LOW | c.2097C>T | p.Gly699Gly | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2186/3156 | 2097/2757 | 699/918 | chr21 | 46125912 | |||
chr21:46125975 | C | G | 3 | a0001c0022 a0001c0026 a0001c0028 |
3 | HG02965.hp1 HG02976.hp1 HG03209.hp1 |
synonymous_variant | LOW | c.2160C>G | p.Arg720Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2249/3156 | 2160/2757 | 720/918 | chr21 | 46125975 | |||
chr21:46125978 | G | A | 3 | a0002c0008 a0004c0016 a0004c0035 |
12 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
synonymous_variant | LOW | c.2163G>A | p.Gln721Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2252/3156 | 2163/2757 | 721/918 | chr21 | 46125978 | |||
chr21:46125999 | G | A | 13 | a0001c0001 a0001c0009 a0001c0010 others(10): Show |
123 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(120): Show |
synonymous_variant | LOW | c.2184G>A | p.Val728Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2273/3156 | 2184/2757 | 728/918 | chr21 | 46125999 | |||
chr21:46126011 | C | T | 1 | a0001c0024 | 1 | NA18942.hp1 | synonymous_variant | LOW | c.2196C>T | p.Asp732Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2285/3156 | 2196/2757 | 732/918 | chr21 | 46126011 | |||
chr21:46126092 | C | T | 1 | a0005c0038 | 1 | NA20129.hp2 | synonymous_variant | LOW | c.2277C>T | p.Ile759Ile | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2366/3156 | 2277/2757 | 759/918 | chr21 | 46126092 | |||
chr21:46126137 | C | T | 1 | a0003c0033 | 1 | HG01243.hp1 | synonymous_variant | LOW | c.2322C>T | p.Ser774Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2411/3156 | 2322/2757 | 774/918 | chr21 | 46126137 | |||
chr21:46126146 | C | T | 1 | a0003c0017 | 2 | NA18980.hp1 NA19082.hp2 |
synonymous_variant | LOW | c.2331C>T | p.Cys777Cys | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/28 | 2420/3156 | 2331/2757 | 777/918 | chr21 | 46126146 | |||
chr21:46129317 | G | A | 1 | a0001c0021 | 1 | HG02970.hp2 | synonymous_variant | LOW | c.2583G>A | p.Thr861Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 2672/3156 | 2583/2757 | 861/918 | chr21 | 46129317 | |||
chr21:46129476 | G | A | 1 | a0003c0041 | 1 | NA18955.hp1 | synonymous_variant | LOW | c.2742G>A | p.Ala914Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 2831/3156 | 2742/2757 | 914/918 | chr21 | 46129476 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46098127 | G | T | 1 | a0002c0003t0016 | 1 | HG00621.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-74G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/28 | chr21 | 46098127 | |||||||
chr21:46129496 | C | T | 1 | a0001c0002t0010 | 4 | HG00735.hp1 HG00741.hp1 HG01074.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 5 | chr21 | 46129496 | ||||||
chr21:46129596 | G | C | 17 | a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 others(14): Show |
99 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(96): Show |
3_prime_UTR_variant | MODIFIER | c.*105G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 105 | chr21 | 46129596 | ||||||
chr21:46129607 | G | C | 1 | a0001c0002t0012 | 1 | NA19010.hp2 | 3_prime_UTR_variant | MODIFIER | c.*116G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 116 | chr21 | 46129607 | ||||||
chr21:46129643 | A | G | 3 | a0001c0002t0007 a0003c0007t0007 a0003c0033t0007 |
13 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*152A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 152 | chr21 | 46129643 | ||||||
chr21:46129655 | T | C | 19 | a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 others(16): Show |
108 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(105): Show |
3_prime_UTR_variant | MODIFIER | c.*164T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 164 | chr21 | 46129655 | ||||||
chr21:46129699 | C | T | 3 | a0003c0004t0004 a0003c0004t0011 a0003c0004t0014 |
21 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*208C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 208 | chr21 | 46129699 | ||||||
chr21:46129715 | T | A | 19 | a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 others(16): Show |
150 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(147): Show |
3_prime_UTR_variant | MODIFIER | c.*224T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 224 | chr21 | 46129715 | ||||||
chr21:46129770 | T | C | 1 | a0002c0003t0015 | 1 | HG02040.hp1 | 3_prime_UTR_variant | MODIFIER | c.*279T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 279 | chr21 | 46129770 | ||||||
chr21:46129782 | T | C | 4 | a0001c0006t0008 a0002c0003t0008 a0002c0034t0008 others(1): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*291T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 291 | chr21 | 46129782 | ||||||
chr21:46129783 | C | T | 1 | a0001c0002t0013 | 1 | NA18980.hp2 | 3_prime_UTR_variant | MODIFIER | c.*292C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 28/28 | 292 | chr21 | 46129783 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46098272 | T | C | 243 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(240): Show |
259 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
intron_variant | MODIFIER | c.-28+99T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098272 | |||||||
chr21:46098393 | G | C | 1 | a0001c0002t0002g0252 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-28+220G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098393 | |||||||
chr21:46098456 | T | TG | 207 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(204): Show |
220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.-28+290dupG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46098456 | ||||||
chr21:46098456 | T | TGG | 30 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0034 others(27): Show |
33 | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(30): Show |
intron_variant | MODIFIER | c.-28+289_-28+290dup others(2): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46098456 | ||||||
chr21:46098515 | C | T | 9 | a0001c0001t0001g0333 a0001c0002t0002g0250 a0001c0002t0002g0251 others(6): Show |
10 | HG00735.hp2 HG01099.hp2 HG01106.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28+342C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098515 | |||||||
chr21:46098521 | C | T | 1 | a0003c0004t0004g0017 | 2 | HG01884.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.-28+348C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098521 | |||||||
chr21:46098565 | G | A | 1 | a0001c0005t0001g0260 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-28+392G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098565 | |||||||
chr21:46098608 | C | T | 1 | a0001c0001t0001g0238 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-28+435C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098608 | |||||||
chr21:46098635 | G | A | 2 | a0001c0022t0006g0052 a0001c0026t0006g0051 |
2 | HG02965.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-28+462G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098635 | |||||||
chr21:46098657 | G | T | 1 | a0001c0002t0002g0329 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-28+484G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098657 | |||||||
chr21:46098693 | T | A | 244 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(241): Show |
261 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show |
intron_variant | MODIFIER | c.-28+520T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098693 | |||||||
chr21:46098779 | G | A | 2 | a0001c0022t0006g0052 a0001c0026t0006g0051 |
2 | HG02965.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-28+606G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098779 | |||||||
chr21:46098817 | G | A | 61 | a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0002t0002g0250 others(58): Show |
62 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(59): Show |
intron_variant | MODIFIER | c.-28+644G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098817 | |||||||
chr21:46098835 | A | C | 1 | a0003c0007t0007g0050 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-28+662A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098835 | |||||||
chr21:46098835 | A | T | 3 | a0004c0016t0003g0096 a0004c0016t0003g0097 a0004c0035t0003g0098 |
3 | HG02109.hp1 HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-28+662A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098835 | |||||||
chr21:46098904 | G | A | 1 | a0003c0004t0004g0099 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-28+731G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098904 | |||||||
chr21:46098977 | C | G | 1 | a0003c0004t0004g0231 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-28+804C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46098977 | |||||||
chr21:46099025 | C | G | 1 | a0001c0001t0001g0230 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.-28+852C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099025 | |||||||
chr21:46099099 | T | C | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-28+926T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099099 | |||||||
chr21:46099112 | G | T | 61 | a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0006t0005g0058 others(58): Show |
62 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(59): Show |
intron_variant | MODIFIER | c.-28+939G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099112 | |||||||
chr21:46099261 | G | A | 116 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(113): Show |
129 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.-28+1088G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099261 | |||||||
chr21:46099295 | T | A | 1 | a0001c0001t0001g0034 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-28+1122T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099295 | |||||||
chr21:46099319 | G | T | 1 | a0001c0002t0002g0328 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.-28+1146G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099319 | |||||||
chr21:46099360 | G | T | 93 | a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0301 others(90): Show |
110 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(107): Show |
intron_variant | MODIFIER | c.-28+1187G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099360 | |||||||
chr21:46099395 | C | T | 226 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(223): Show |
256 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
intron_variant | MODIFIER | c.-28+1222C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099395 | |||||||
chr21:46099444 | C | G | 1 | a0009c0032t0006g0226 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-28+1271C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099444 | |||||||
chr21:46099455 | C | CA | 19 | a0001c0001t0001g0055 a0001c0001t0001g0100 a0001c0001t0001g0101 others(16): Show |
20 | HG00597.hp1 HG01109.hp1 HG01257.hp2 others(17): Show |
intron_variant | MODIFIER | c.-28+1309dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099455 | CA | C | 123 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(120): Show |
137 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
intron_variant | MODIFIER | c.-28+1309delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099455 | CAA | C | 25 | a0001c0001t0001g0049 a0001c0001t0001g0189 a0001c0002t0002g0250 others(22): Show |
25 | HG01243.hp2 HG01261.hp2 HG01433.hp1 others(22): Show |
intron_variant | MODIFIER | c.-28+1308_-28+1309d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099455 | CAAAAA | C | 9 | a0001c0001t0001g0271 a0001c0002t0002g0269 a0001c0002t0002g0270 others(6): Show |
9 | HG00423.hp1 HG00738.hp1 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.-28+1305_-28+1309d others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099455 | CAAAAAA | C | 81 | a0001c0001t0001g0282 a0001c0001t0001g0301 a0001c0001t0001g0302 others(78): Show |
98 | HG00140.hp2 HG00544.hp2 HG00639.hp2 others(95): Show |
intron_variant | MODIFIER | c.-28+1304_-28+1309d others(8): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099592 | G | T | 1 | a0001c0002t0002g0327 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.-28+1419G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099592 | |||||||
chr21:46099621 | T | C | 257 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(254): Show |
274 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
intron_variant | MODIFIER | c.-28+1448T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099621 | |||||||
chr21:46099806 | A | G | 226 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(223): Show |
256 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
intron_variant | MODIFIER | c.-28+1633A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099806 | |||||||
chr21:46099871 | A | G | 4 | a0001c0005t0001g0260 a0001c0005t0001g0325 a0001c0005t0001g0326 others(1): Show |
4 | HG01884.hp2 HG01978.hp1 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28+1698A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099871 | |||||||
chr21:46099889 | C | CG | 13 | a0001c0006t0005g0058 a0002c0003t0003g0024 a0002c0003t0003g0028 others(10): Show |
13 | HG00544.hp1 HG02145.hp1 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.-28+1716_-28+1717i others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099889 | |||||||
chr21:46099889 | C | CTTTTTTT | 10 | a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0130 others(7): Show |
12 | HG00280.hp2 HG01123.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.-28+1733_-28+1739d others(9): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | C | CTTTTTTT others(1): Show |
69 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(66): Show |
76 | HG00140.hp1 HG00323.hp1 HG00609.hp1 others(73): Show |
intron_variant | MODIFIER | c.-28+1732_-28+1739d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | C | CTTTTTTT others(2): Show |
38 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(35): Show |
42 | HG00558.hp1 HG00558.hp2 HG00738.hp2 others(39): Show |
intron_variant | MODIFIER | c.-28+1731_-28+1739d others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | C | CTTTTTTT others(3): Show |
4 | a0001c0001t0001g0037 a0001c0001t0001g0104 a0001c0001t0001g0127 others(1): Show |
4 | HG02055.hp1 HG04228.hp1 NA18950.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+1730_-28+1739d others(12): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | CT | C | 39 | a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0322 others(36): Show |
40 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.-28+1739delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | CTT | C | 73 | a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0301 others(70): Show |
89 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(86): Show |
intron_variant | MODIFIER | c.-28+1738_-28+1739d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | CTTT | C | 11 | a0001c0001t0001g0333 a0001c0002t0002g0267 a0001c0002t0002g0268 others(8): Show |
12 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.-28+1737_-28+1739d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099890 | T | G | 43 | a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0006t0005g0062 others(40): Show |
44 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(41): Show |
intron_variant | MODIFIER | c.-28+1717T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099890 | |||||||
chr21:46099891 | T | G | 6 | a0002c0003t0001g0070 a0002c0003t0003g0068 a0002c0003t0003g0071 others(3): Show |
6 | HG02257.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.-28+1718T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099891 | |||||||
chr21:46099925 | A | T | 1 | a0002c0034t0008g0048 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-28+1752A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099925 | |||||||
chr21:46099942 | G | T | 1 | a0001c0002t0002g0320 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.-28+1769G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099942 | |||||||
chr21:46099948 | G | C | 34 | a0001c0001t0001g0055 a0001c0001t0001g0061 a0002c0003t0003g0009 others(31): Show |
35 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(32): Show |
intron_variant | MODIFIER | c.-28+1775G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099948 | |||||||
chr21:46099961 | A | G | 1 | a0001c0006t0005g0233 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-28+1788A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46099961 | |||||||
chr21:46100081 | G | GT | 4 | a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0172 others(1): Show |
4 | HG01106.hp2 NA18979.hp2 NA19003.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+1915dupT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46100081 | ||||||
chr21:46100221 | G | A | 2 | a0001c0002t0002g0278 a0001c0025t0002g0279 |
2 | HG02922.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-28+2048G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46100221 | |||||||
chr21:46100310 | G | GTGTT | 3 | a0001c0022t0006g0052 a0003c0007t0007g0016 a0003c0007t0007g0045 |
4 | HG01516.hp1 HG01517.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+2156_-28+2159d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46100310 | ||||||
chr21:46100346 | G | T | 134 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(131): Show |
147 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.-28+2173G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46100346 | |||||||
chr21:46100388 | G | A | 1 | a0001c0002t0002g0280 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.-28+2215G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46100388 | |||||||
chr21:46100498 | A | G | 1 | a0001c0001t0001g0126 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-28+2325A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46100498 | |||||||
chr21:46100510 | G | A | 130 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(127): Show |
143 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.-28+2337G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46100510 | |||||||
chr21:46100688 | T | TA | 134 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(131): Show |
147 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.-28+2517dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46100688 | ||||||
chr21:46100747 | G | T | 7 | a0001c0005t0003g0248 a0001c0006t0006g0236 a0001c0006t0006g0245 others(4): Show |
7 | HG01261.hp2 HG02559.hp2 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.-28+2574G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46100747 | |||||||
chr21:46100790 | C | G | 1 | a0001c0005t0003g0248 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-28+2617C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46100790 | |||||||
chr21:46101178 | T | C | 1 | a0001c0001t0001g0173 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-28+3005T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46101178 | |||||||
chr21:46101411 | T | A | 2 | a0001c0005t0003g0248 a0001c0028t0006g0244 |
2 | HG02809.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-28+3238T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46101411 | |||||||
chr21:46101543 | C | T | 2 | a0001c0002t0002g0250 a0001c0002t0002g0251 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-28+3370C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46101543 | |||||||
chr21:46101675 | C | T | 2 | a0001c0002t0002g0250 a0001c0002t0002g0251 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-28+3502C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46101675 | |||||||
chr21:46101847 | AT | A | 39 | a0001c0001t0001g0061 a0001c0001t0001g0215 a0002c0003t0001g0070 others(36): Show |
40 | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.-28+3702delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATT | A | 47 | a0001c0001t0001g0055 a0001c0002t0007g0198 a0001c0006t0005g0058 others(44): Show |
49 | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(46): Show |
intron_variant | MODIFIER | c.-28+3701_-28+3702d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTT | A | 9 | a0001c0006t0005g0062 a0001c0006t0005g0063 a0001c0006t0005g0064 others(6): Show |
9 | HG00099.hp2 HG01433.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.-28+3700_-28+3702d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT | A | 27 | a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0271 others(24): Show |
30 | HG00140.hp2 HG00735.hp2 HG01099.hp2 others(27): Show |
intron_variant | MODIFIER | c.-28+3696_-28+3702d others(9): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(1): Show |
A | 61 | a0001c0001t0001g0049 a0001c0001t0001g0301 a0001c0001t0001g0302 others(58): Show |
75 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(72): Show |
intron_variant | MODIFIER | c.-28+3695_-28+3702d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(2): Show |
A | 21 | a0001c0001t0001g0115 a0001c0001t0001g0167 a0001c0001t0001g0172 others(18): Show |
21 | HG00738.hp2 HG01168.hp1 HG01169.hp1 others(18): Show |
intron_variant | MODIFIER | c.-28+3694_-28+3702d others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(3): Show |
A | 99 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(96): Show |
110 | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(107): Show |
intron_variant | MODIFIER | c.-28+3693_-28+3702d others(12): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(4): Show |
A | 14 | a0001c0001t0001g0034 a0001c0001t0001g0127 a0001c0001t0001g0128 others(11): Show |
16 | HG00280.hp1 HG00280.hp2 HG01123.hp2 others(13): Show |
intron_variant | MODIFIER | c.-28+3692_-28+3702d others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(5): Show |
A | 1 | a0003c0004t0011g0190 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-28+3691_-28+3702d others(14): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101933 | G | GA | 129 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(126): Show |
142 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.-28+3770dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101933 | ||||||
chr21:46101982 | T | G | 130 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(127): Show |
143 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.-28+3809T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46101982 | |||||||
chr21:46102145 | A | G | 1 | a0002c0003t0003g0072 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-28+3972A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46102145 | |||||||
chr21:46102185 | C | A | 85 | a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0301 others(82): Show |
102 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(99): Show |
intron_variant | MODIFIER | c.-28+4012C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46102185 | |||||||
chr21:46102222 | G | C | 288 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(285): Show |
319 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
intron_variant | MODIFIER | c.-28+4049G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46102222 | |||||||
chr21:46102652 | C | G | 1 | a0003c0004t0004g0047 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-28+4479C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46102652 | |||||||
chr21:46102683 | G | A | 3 | a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0040t0003g0229 |
3 | HG02809.hp1 HG02818.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28+4510G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46102683 | |||||||
chr21:46102706 | A | AT | 107 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(104): Show |
119 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.-28+4546dupT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46102706 | ||||||
chr21:46102706 | A | ATT | 7 | a0001c0001t0001g0049 a0001c0001t0001g0163 a0001c0001t0001g0164 others(4): Show |
7 | HG02083.hp1 NA18747.hp1 NA18964.hp1 others(4): Show |
intron_variant | MODIFIER | c.-28+4545_-28+4546d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46102706 | ||||||
chr21:46102706 | AT | A | 99 | a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0215 others(96): Show |
102 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(99): Show |
intron_variant | MODIFIER | c.-28+4546delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46102706 | ||||||
chr21:46102885 | T | C | 227 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(224): Show |
257 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(254): Show |
intron_variant | MODIFIER | c.-28+4712T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46102885 | |||||||
chr21:46102934 | A | G | 335 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(332): Show |
368 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(365): Show |
intron_variant | MODIFIER | c.-28+4761A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46102934 | |||||||
chr21:46103062 | C | T | 1 | a0001c0001t0001g0061 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-28+4889C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103062 | |||||||
chr21:46103503 | C | G | 62 | a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0006t0005g0058 others(59): Show |
63 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(60): Show |
intron_variant | MODIFIER | c.-28+5330C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103503 | |||||||
chr21:46103578 | G | A | 2 | a0001c0001t0001g0163 a0001c0001t0001g0175 |
2 | HG00558.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.-28+5405G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103578 | |||||||
chr21:46103676 | G | T | 1 | a0001c0005t0001g0260 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-28+5503G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103676 | |||||||
chr21:46103691 | G | A | 4 | a0001c0002t0002g0250 a0001c0002t0002g0251 a0002c0008t0001g0094 others(1): Show |
4 | HG02630.hp1 HG02717.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+5518G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103691 | |||||||
chr21:46103754 | T | A | 1 | a0002c0003t0003g0074 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.-28+5581T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103754 | |||||||
chr21:46103815 | C | T | 9 | a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0259 others(6): Show |
10 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28+5642C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103815 | |||||||
chr21:46103906 | C | T | 1 | a0001c0005t0002g0174 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-28+5733C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103906 | |||||||
chr21:46103925 | A | T | 7 | a0003c0007t0001g0201 a0003c0007t0007g0044 a0003c0007t0007g0050 others(4): Show |
7 | HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.-28+5752A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103925 | |||||||
chr21:46103976 | A | G | 1 | a0003c0007t0003g0232 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-28+5803A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46103976 | |||||||
chr21:46104149 | A | C | 3 | a0001c0006t0005g0233 a0001c0012t0001g0237 a0001c0012t0001g0254 |
3 | HG01243.hp2 HG02280.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-28+5976A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104149 | |||||||
chr21:46104150 | A | G | 1 | a0001c0001t0001g0049 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-28+5977A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104150 | |||||||
chr21:46104151 | G | A | 1 | a0001c0001t0001g0049 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-28+5978G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104151 | |||||||
chr21:46104171 | GA | G | 128 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(125): Show |
141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.-28+6007delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46104171 | ||||||
chr21:46104172 | A | G | 1 | a0002c0034t0008g0048 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-28+5999A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104172 | |||||||
chr21:46104269 | A | G | 2 | a0001c0002t0002g0250 a0001c0002t0002g0251 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-28+6096A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104269 | |||||||
chr21:46104466 | A | C | 134 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(131): Show |
147 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.-28+6293A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104466 | |||||||
chr21:46104518 | G | T | 5 | a0002c0003t0003g0225 a0002c0003t0008g0219 a0002c0003t0008g0221 others(2): Show |
5 | HG01433.hp1 HG02055.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28+6345G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104518 | |||||||
chr21:46104570 | T | C | 1 | a0002c0008t0001g0094 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-28+6397T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104570 | |||||||
chr21:46104701 | A | G | 4 | a0003c0007t0007g0016 a0003c0007t0007g0045 a0003c0007t0007g0193 others(1): Show |
5 | HG01516.hp1 HG01517.hp2 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.-28+6528A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104701 | |||||||
chr21:46104702 | G | C | 1 | a0003c0018t0003g0239 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-28+6529G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104702 | |||||||
chr21:46104844 | A | G | 1 | a0001c0001t0001g0115 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.-27-6606A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104844 | |||||||
chr21:46104900 | A | T | 1 | a0003c0007t0007g0050 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-27-6550A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46104900 | |||||||
chr21:46105042 | C | T | 129 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(126): Show |
142 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.-27-6408C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46105042 | |||||||
chr21:46105160 | T | A | 1 | a0002c0008t0005g0029 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-27-6290T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46105160 | |||||||
chr21:46105190 | C | T | 3 | a0001c0005t0001g0260 a0001c0005t0001g0325 a0001c0005t0001g0326 |
3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-27-6260C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46105190 | |||||||
chr21:46105333 | C | G | 3 | a0003c0004t0003g0191 a0003c0004t0011g0190 a0003c0004t0011g0197 |
3 | HG02145.hp2 HG02615.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-27-6117C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46105333 | |||||||
chr21:46105393 | A | G | 1 | a0002c0003t0006g0067 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-27-6057A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46105393 | |||||||
chr21:46105426 | T | C | 9 | a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0259 others(6): Show |
10 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.-27-6024T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46105426 | |||||||
chr21:46105771 | A | G | 1 | a0001c0005t0002g0174 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-27-5679A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46105771 | |||||||
chr21:46105910 | A | C | 1 | a0002c0003t0001g0070 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-27-5540A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46105910 | |||||||
chr21:46106042 | C | T | 1 | a0003c0004t0004g0204 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-27-5408C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46106042 | |||||||
chr21:46106229 | A | G | 1 | a0003c0007t0007g0192 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-27-5221A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46106229 | |||||||
chr21:46106326 | G | A | 232 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(229): Show |
262 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(259): Show |
intron_variant | MODIFIER | c.-27-5124G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46106326 | |||||||
chr21:46106805 | G | A | 122 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(119): Show |
135 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(132): Show |
intron_variant | MODIFIER | c.-27-4645G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46106805 | |||||||
chr21:46106864 | T | C | 1 | a0002c0003t0003g0060 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-27-4586T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46106864 | |||||||
chr21:46106966 | A | T | 1 | a0001c0005t0001g0162 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-27-4484A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46106966 | |||||||
chr21:46107031 | C | T | 1 | a0001c0001t0001g0215 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-27-4419C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107031 | |||||||
chr21:46107221 | T | G | 3 | a0001c0005t0001g0260 a0001c0005t0001g0325 a0001c0005t0001g0326 |
3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-27-4229T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107221 | |||||||
chr21:46107278 | C | G | 234 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(231): Show |
264 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
intron_variant | MODIFIER | c.-27-4172C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107278 | |||||||
chr21:46107294 | G | A | 234 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(231): Show |
264 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
intron_variant | MODIFIER | c.-27-4156G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107294 | |||||||
chr21:46107355 | T | C | 280 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(277): Show |
312 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(309): Show |
intron_variant | MODIFIER | c.-27-4095T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107355 | |||||||
chr21:46107455 | T | C | 100 | a0001c0001t0001g0138 a0001c0001t0001g0170 a0001c0001t0001g0185 others(97): Show |
117 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(114): Show |
intron_variant | MODIFIER | c.-27-3995T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107455 | |||||||
chr21:46107496 | T | A | 2 | a0001c0002t0002g0250 a0001c0002t0002g0251 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-27-3954T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107496 | |||||||
chr21:46107594 | G | A | 234 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(231): Show |
264 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
intron_variant | MODIFIER | c.-27-3856G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107594 | |||||||
chr21:46107695 | T | G | 1 | a0003c0004t0004g0205 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.-27-3755T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107695 | |||||||
chr21:46107798 | C | G | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-3652C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107798 | |||||||
chr21:46107974 | T | G | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-3476T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46107974 | |||||||
chr21:46108105 | TA | T | 52 | a0001c0001t0001g0215 a0001c0001t0001g0271 a0001c0001t0001g0282 others(49): Show |
54 | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(51): Show |
intron_variant | MODIFIER | c.-27-3344delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46108105 | |||||||
chr21:46108106 | A | T | 7 | a0001c0001t0001g0104 a0001c0001t0001g0175 a0001c0027t0003g0249 others(4): Show |
7 | HG00558.hp2 HG00621.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.-27-3344A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46108106 | |||||||
chr21:46108106 | AT | A | 77 | a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0002t0002g0001 others(74): Show |
93 | HG00423.hp1 HG00544.hp2 HG00639.hp1 others(90): Show |
intron_variant | MODIFIER | c.-27-3335delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46108106 | ||||||
chr21:46108108 | T | A | 32 | a0001c0001t0001g0107 a0001c0001t0001g0138 a0001c0001t0001g0139 others(29): Show |
32 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.-27-3342T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46108108 | |||||||
chr21:46108109 | T | A | 1 | a0001c0002t0012g0285 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-27-3341T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46108109 | |||||||
chr21:46108750 | A | G | 1 | a0002c0003t0003g0083 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-27-2700A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46108750 | |||||||
chr21:46108856 | C | T | 4 | a0001c0006t0006g0236 a0001c0006t0006g0245 a0001c0006t0006g0246 others(1): Show |
4 | HG01261.hp2 HG02559.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-27-2594C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46108856 | |||||||
chr21:46108996 | G | A | 114 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(111): Show |
125 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.-27-2454G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46108996 | |||||||
chr21:46109229 | G | A | 6 | a0001c0002t0007g0198 a0003c0007t0007g0016 a0003c0007t0007g0045 others(3): Show |
7 | HG01243.hp1 HG01516.hp1 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.-27-2221G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109229 | |||||||
chr21:46109311 | G | A | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-2139G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109311 | |||||||
chr21:46109327 | G | A | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-2123G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109327 | |||||||
chr21:46109426 | C | T | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-2024C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109426 | |||||||
chr21:46109434 | G | A | 94 | a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0301 others(91): Show |
111 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(108): Show |
intron_variant | MODIFIER | c.-27-2016G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109434 | |||||||
chr21:46109442 | C | T | 2 | a0001c0006t0006g0236 a0001c0006t0006g0247 |
2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-27-2008C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109442 | |||||||
chr21:46109443 | G | A | 1 | a0001c0005t0003g0011 | 2 | HG00323.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.-27-2007G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109443 | |||||||
chr21:46109451 | G | A | 4 | a0001c0006t0006g0236 a0001c0006t0006g0245 a0001c0006t0006g0246 others(1): Show |
4 | HG01261.hp2 HG02559.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-27-1999G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109451 | |||||||
chr21:46109522 | C | G | 1 | a0002c0003t0003g0072 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-27-1928C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109522 | |||||||
chr21:46109532 | C | T | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-1918C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109532 | |||||||
chr21:46109823 | G | T | 2 | a0001c0010t0001g0169 a0001c0010t0001g0188 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-27-1627G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109823 | |||||||
chr21:46109874 | T | C | 1 | a0001c0002t0002g0269 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.-27-1576T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109874 | |||||||
chr21:46109908 | T | C | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-1542T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109908 | |||||||
chr21:46109978 | A | G | 1 | a0002c0008t0005g0025 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-27-1472A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46109978 | |||||||
chr21:46110149 | A | G | 1 | a0003c0004t0002g0311 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.-27-1301A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110149 | |||||||
chr21:46110284 | C | T | 1 | a0002c0003t0003g0027 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-27-1166C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110284 | |||||||
chr21:46110375 | A | C | 288 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(285): Show |
320 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(317): Show |
intron_variant | MODIFIER | c.-27-1075A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110375 | |||||||
chr21:46110401 | G | A | 1 | a0003c0007t0007g0194 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.-27-1049G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110401 | |||||||
chr21:46110476 | A | G | 4 | a0001c0006t0006g0236 a0001c0006t0006g0245 a0001c0006t0006g0246 others(1): Show |
4 | HG01261.hp2 HG02559.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-27-974A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110476 | |||||||
chr21:46110629 | G | A | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-27-821G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110629 | |||||||
chr21:46110688 | T | C | 142 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(139): Show |
155 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.-27-762T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110688 | |||||||
chr21:46110721 | G | A | 1 | a0007c0036t0008g0222 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.-27-729G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110721 | |||||||
chr21:46110772 | C | T | 2 | a0001c0006t0006g0236 a0001c0006t0006g0247 |
2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-27-678C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110772 | |||||||
chr21:46110777 | A | AGCACAGT others(46): Show |
131 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(128): Show |
144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.-27-644_-27-643ins others(53): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46110777 | ||||||
chr21:46110777 | A | AGCACAGT others(46): Show |
1 | a0001c0027t0003g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-27-644_-27-643ins others(53): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46110777 | ||||||
chr21:46110777 | A | G | 2 | a0001c0006t0006g0236 a0001c0006t0006g0247 |
2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-27-673A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46110777 | |||||||
chr21:46111076 | T | C | 281 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(278): Show |
313 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
intron_variant | MODIFIER | c.-27-374T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111076 | |||||||
chr21:46111154 | C | T | 1 | a0001c0006t0008g0300 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-27-296C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111154 | |||||||
chr21:46111164 | C | A | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-27-286C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111164 | |||||||
chr21:46111165 | A | G | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-27-285A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111165 | |||||||
chr21:46111185 | G | T | 4 | a0001c0002t0010g0125 a0001c0005t0001g0162 a0001c0005t0001g0168 others(1): Show |
5 | HG00323.hp1 HG00741.hp1 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.-27-265G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111185 | |||||||
chr21:46111207 | C | A | 6 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(3): Show |
6 | HG02559.hp1 HG02615.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.-27-243C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111207 | |||||||
chr21:46111272 | C | T | 1 | a0002c0003t0003g0090 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-27-178C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111272 | |||||||
chr21:46111301 | C | T | 123 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(120): Show |
136 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(133): Show |
intron_variant | MODIFIER | c.-27-149C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111301 | |||||||
chr21:46111302 | G | A | 3 | a0001c0002t0002g0004 a0001c0002t0002g0312 a0008c0042t0002g0284 |
6 | HG02040.hp2 NA18964.hp2 NA18978.hp1 others(3): Show |
intron_variant | MODIFIER | c.-27-148G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111302 | |||||||
chr21:46111316 | G | A | 3 | a0001c0006t0005g0233 a0001c0012t0001g0237 a0001c0012t0001g0254 |
3 | HG01243.hp2 HG02280.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-27-134G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111316 | |||||||
chr21:46111316 | G | C | 1 | a0005c0038t0001g0093 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-27-134G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111316 | |||||||
chr21:46111361 | G | A | 4 | a0001c0001t0001g0104 a0001c0005t0001g0260 a0001c0005t0001g0325 others(1): Show |
4 | HG01884.hp2 HG01978.hp1 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.-27-89G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111361 | |||||||
chr21:46111409 | A | C | 2 | a0001c0001t0001g0160 a0001c0001t0001g0181 |
2 | NA18941.hp1 NA19055.hp1 |
intron_variant | MODIFIER | c.-27-41A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | chr21 | 46111409 | |||||||
chr21:46111586 | GCCCAGGT others(55): Show |
G | 147 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(144): Show |
161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.116-190_116-129del others(62): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111586 | ||||||
chr21:46111586 | GCCCAGGT others(117): Show |
G | 78 | a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0271 others(75): Show |
94 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(91): Show |
intron_variant | MODIFIER | c.115+136_116-129del | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111586 | ||||||
chr21:46111673 | GGGGGCTC others(116): Show |
G | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.115+87_116-179del | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111673 | ||||||
chr21:46111728 | GGGGGCCG others(54): Show |
G | 1 | a0006c0015t0001g0159 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.115+142_116-186del others(61): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111728 | ||||||
chr21:46111734 | C | T | 1 | a0001c0012t0001g0254 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115+143C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/27 | chr21 | 46111734 | |||||||
chr21:46111765 | G | T | 2 | a0001c0014t0002g0007 a0001c0014t0002g0319 |
2 | NA19055.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.115+174G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/27 | chr21 | 46111765 | |||||||
chr21:46111859 | G | A | 1 | a0002c0003t0003g0077 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.116-120G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/27 | chr21 | 46111859 | |||||||
chr21:46111863 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.116-116G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/27 | chr21 | 46111863 | |||||||
chr21:46111945 | G | A | 4 | a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0176 others(1): Show |
4 | HG01069.hp1 HG01071.hp2 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.116-34G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 2/27 | chr21 | 46111945 | |||||||
chr21:46112586 | C | T | 7 | a0001c0005t0001g0002 a0001c0005t0001g0038 a0001c0005t0001g0106 others(4): Show |
9 | HG00280.hp2 HG01123.hp2 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.714+9C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112586 | |||||||
chr21:46112593 | G | A | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.714+16G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112593 | |||||||
chr21:46112594 | A | G | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.714+17A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112594 | |||||||
chr21:46112606 | G | A | 12 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(9): Show |
12 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.714+29G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112606 | |||||||
chr21:46112622 | C | T | 80 | a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0301 others(77): Show |
96 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(93): Show |
intron_variant | MODIFIER | c.714+45C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112622 | |||||||
chr21:46112630 | C | T | 121 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(118): Show |
134 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.714+53C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112630 | |||||||
chr21:46112639 | A | G | 7 | a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0259 others(4): Show |
8 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.714+62A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112639 | |||||||
chr21:46112679 | G | A | 13 | a0001c0005t0001g0162 a0001c0006t0005g0058 a0001c0006t0005g0062 others(10): Show |
13 | HG01168.hp2 HG01261.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.714+102G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112679 | |||||||
chr21:46112725 | C | A | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.715-79C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112725 | |||||||
chr21:46112726 | A | T | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.715-78A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3/27 | chr21 | 46112726 | |||||||
chr21:46112884 | G | A | 1 | a0001c0006t0008g0300 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.735+60G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46112884 | |||||||
chr21:46113018 | C | T | 1 | a0001c0022t0006g0052 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.735+194C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113018 | |||||||
chr21:46113245 | C | T | 3 | a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0176 |
3 | HG01069.hp1 HG01071.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.735+421C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113245 | |||||||
chr21:46113246 | G | A | 3 | a0003c0004t0003g0191 a0003c0004t0011g0190 a0003c0004t0011g0197 |
3 | HG02145.hp2 HG02615.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.735+422G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113246 | |||||||
chr21:46113250 | G | T | 1 | a0003c0007t0007g0050 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.735+426G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113250 | |||||||
chr21:46113265 | C | A | 2 | a0001c0005t0001g0325 a0001c0005t0001g0326 |
2 | HG01884.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.735+441C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113265 | |||||||
chr21:46113312 | G | A | 6 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(3): Show |
6 | HG02559.hp1 HG02615.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.735+488G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113312 | |||||||
chr21:46113375 | CTTTTA | C | 3 | a0003c0004t0002g0046 a0003c0004t0004g0208 a0003c0004t0004g0210 |
3 | HG02723.hp2 HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.735+553_735+557del others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr21 | 46113375 | ||||||
chr21:46113587 | G | A | 7 | a0003c0007t0001g0201 a0003c0007t0007g0044 a0003c0007t0007g0050 others(4): Show |
7 | HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.736-421G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113587 | |||||||
chr21:46113719 | G | A | 1 | a0001c0002t0009g0262 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.736-289G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113719 | |||||||
chr21:46113783 | G | A | 1 | a0001c0005t0001g0187 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.736-225G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113783 | |||||||
chr21:46113798 | A | C | 1 | a0002c0003t0003g0027 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.736-210A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113798 | |||||||
chr21:46113844 | AC | A | 30 | a0003c0004t0001g0309 a0003c0004t0002g0046 a0003c0004t0002g0257 others(27): Show |
31 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(28): Show |
intron_variant | MODIFIER | c.736-160delC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr21 | 46113844 | ||||||
chr21:46113872 | C | T | 1 | a0001c0001t0001g0061 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.736-136C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4/27 | chr21 | 46113872 | |||||||
chr21:46114109 | C | T | 1 | a0001c0001t0001g0124 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.801+36C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114109 | |||||||
chr21:46114130 | T | C | 9 | a0001c0006t0008g0300 a0002c0003t0008g0218 a0002c0003t0008g0219 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.801+57T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114130 | |||||||
chr21:46114153 | G | A | 1 | a0003c0004t0004g0047 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.801+80G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114153 | |||||||
chr21:46114230 | T | G | 1 | a0001c0002t0002g0286 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.801+157T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114230 | |||||||
chr21:46114282 | G | A | 3 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0182 |
3 | HG00733.hp2 HG01169.hp2 HG01175.hp1 |
intron_variant | MODIFIER | c.801+209G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114282 | |||||||
chr21:46114283 | G | C | 1 | a0002c0003t0003g0068 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.801+210G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114283 | |||||||
chr21:46114288 | A | G | 1 | a0001c0011t0001g0332 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+215A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114288 | |||||||
chr21:46114295 | T | C | 1 | a0001c0011t0001g0332 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+222T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114295 | |||||||
chr21:46114296 | G | A | 1 | a0001c0011t0001g0332 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+223G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114296 | |||||||
chr21:46114297 | C | T | 1 | a0001c0011t0001g0332 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+224C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114297 | |||||||
chr21:46114398 | C | G | 3 | a0002c0003t0003g0031 a0002c0003t0003g0082 a0002c0003t0003g0089 |
3 | HG00099.hp1 HG01255.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.801+325C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114398 | |||||||
chr21:46114424 | C | CA | 11 | a0001c0002t0002g0287 a0001c0002t0002g0312 a0001c0002t0009g0022 others(8): Show |
12 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.801+367dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr21 | 46114424 | ||||||
chr21:46114424 | CA | C | 12 | a0001c0001t0001g0107 a0001c0001t0001g0134 a0001c0001t0001g0166 others(9): Show |
12 | HG00140.hp1 HG00323.hp2 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.801+367delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr21 | 46114424 | ||||||
chr21:46114471 | A | G | 1 | a0003c0004t0004g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.801+398A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114471 | |||||||
chr21:46114503 | A | G | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+430A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114503 | |||||||
chr21:46114504 | G | A | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+431G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114504 | |||||||
chr21:46114521 | T | C | 1 | a0003c0007t0003g0232 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.801+448T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114521 | |||||||
chr21:46114522 | G | C | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+449G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114522 | |||||||
chr21:46114524 | C | A | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+451C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114524 | |||||||
chr21:46114546 | T | C | 12 | a0003c0004t0001g0309 a0003c0004t0002g0257 a0003c0004t0002g0311 others(9): Show |
12 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(9): Show |
intron_variant | MODIFIER | c.801+473T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114546 | |||||||
chr21:46114592 | A | G | 3 | a0002c0003t0008g0220 a0002c0034t0008g0048 a0007c0036t0008g0222 |
3 | HG02083.hp2 HG03710.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.801+519A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114592 | |||||||
chr21:46114703 | G | A | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+630G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114703 | |||||||
chr21:46114704 | T | G | 1 | a0008c0042t0002g0284 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+631T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114704 | |||||||
chr21:46114826 | C | T | 3 | a0001c0009t0001g0113 a0001c0009t0001g0122 a0001c0009t0001g0123 |
3 | HG01891.hp2 HG03209.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.801+753C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46114826 | |||||||
chr21:46115054 | G | A | 1 | a0001c0006t0005g0234 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.802-818G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115054 | |||||||
chr21:46115151 | G | C | 16 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(13): Show |
16 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.802-721G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115151 | |||||||
chr21:46115266 | C | T | 23 | a0003c0004t0001g0309 a0003c0004t0002g0046 a0003c0004t0002g0257 others(20): Show |
23 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.802-606C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115266 | |||||||
chr21:46115334 | C | T | 224 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(221): Show |
255 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(252): Show |
intron_variant | MODIFIER | c.802-538C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115334 | |||||||
chr21:46115523 | C | T | 1 | a0001c0001t0001g0158 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.802-349C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115523 | |||||||
chr21:46115528 | G | C | 1 | a0001c0006t0005g0233 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.802-344G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115528 | |||||||
chr21:46115596 | C | T | 1 | a0002c0003t0003g0088 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.802-276C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115596 | |||||||
chr21:46115622 | T | G | 240 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(237): Show |
271 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show |
intron_variant | MODIFIER | c.802-250T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115622 | |||||||
chr21:46115788 | C | T | 1 | a0001c0005t0001g0260 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.802-84C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115788 | |||||||
chr21:46115842 | G | A | 3 | a0001c0006t0006g0263 a0001c0006t0006g0264 a0001c0006t0006g0265 |
3 | HG02886.hp2 HG02897.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.802-30G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 5/27 | chr21 | 46115842 | |||||||
chr21:46116113 | C | T | 1 | a0001c0001t0001g0304 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.900+60C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 7/27 | chr21 | 46116113 | |||||||
chr21:46116252 | G | A | 15 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(12): Show |
15 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.901-125G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 7/27 | chr21 | 46116252 | |||||||
chr21:46116266 | C | T | 70 | a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0002t0002g0001 others(67): Show |
86 | HG00423.hp1 HG00544.hp2 HG00673.hp1 others(83): Show |
intron_variant | MODIFIER | c.901-111C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 7/27 | chr21 | 46116266 | |||||||
chr21:46116295 | C | T | 5 | a0002c0008t0001g0094 a0002c0008t0001g0095 a0004c0016t0003g0096 others(2): Show |
5 | HG02109.hp1 HG02647.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.901-82C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 7/27 | chr21 | 46116295 | |||||||
chr21:46116474 | C | T | 3 | a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0303 |
3 | NA18975.hp1 NA19012.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.927+71C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 8/27 | chr21 | 46116474 | |||||||
chr21:46116522 | G | A | 1 | a0001c0002t0002g0281 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.927+119G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 8/27 | chr21 | 46116522 | |||||||
chr21:46116632 | C | T | 132 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(129): Show |
145 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(142): Show |
intron_variant | MODIFIER | c.928-19C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 8/27 | chr21 | 46116632 | |||||||
chr21:46116693 | A | C | 1 | a0002c0003t0003g0054 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.954+16A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 9/27 | chr21 | 46116693 | |||||||
chr21:46116885 | A | T | 3 | a0002c0003t0003g0031 a0002c0003t0003g0082 a0002c0003t0003g0089 |
3 | HG00099.hp1 HG01255.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.999+71A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | chr21 | 46116885 | |||||||
chr21:46116926 | T | TAC | 48 | a0001c0001t0001g0142 a0001c0001t0001g0182 a0001c0002t0002g0255 others(45): Show |
49 | HG00323.hp2 HG00438.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.999+141_999+142dup others(2): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACAC | 129 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(126): Show |
139 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.999+139_999+142dup others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACAC | 22 | a0001c0001t0001g0013 a0001c0001t0001g0104 a0001c0001t0001g0118 others(19): Show |
25 | HG00323.hp1 HG00558.hp1 HG00609.hp1 others(22): Show |
intron_variant | MODIFIER | c.999+137_999+142dup others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACACA others(1): Show |
3 | a0001c0001t0001g0010 a0001c0006t0006g0245 a0001c0028t0006g0244 |
4 | HG02897.hp2 HG02976.hp1 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.999+135_999+142dup others(8): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACACA others(3): Show |
11 | a0001c0002t0007g0198 a0001c0006t0005g0058 a0001c0006t0005g0063 others(8): Show |
12 | HG00423.hp2 HG01516.hp1 HG01517.hp2 others(9): Show |
intron_variant | MODIFIER | c.999+133_999+142dup others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACACA others(5): Show |
6 | a0001c0006t0005g0062 a0003c0007t0007g0044 a0003c0007t0007g0050 others(3): Show |
6 | HG00597.hp1 HG02559.hp1 NA18941.hp2 others(3): Show |
intron_variant | MODIFIER | c.999+131_999+142dup others(12): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACACA others(9): Show |
1 | a0001c0001t0001g0135 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.999+127_999+142dup others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | TAC | T | 55 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0007 others(52): Show |
70 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(67): Show |
intron_variant | MODIFIER | c.999+141_999+142del others(2): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | TACAC | T | 4 | a0001c0002t0002g0286 a0001c0002t0002g0317 a0003c0018t0003g0239 others(1): Show |
4 | HG02723.hp1 HG02818.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.999+139_999+142del others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | TACACACA others(11): Show |
T | 9 | a0001c0006t0008g0300 a0002c0003t0008g0218 a0002c0003t0008g0219 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.999+125_999+142del others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46117130 | G | A | 1 | a0001c0005t0001g0261 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1000-270G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | chr21 | 46117130 | |||||||
chr21:46117196 | G | A | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1000-204G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | chr21 | 46117196 | |||||||
chr21:46117232 | C | T | 16 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(13): Show |
16 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.1000-168C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | chr21 | 46117232 | |||||||
chr21:46117235 | C | T | 1 | a0003c0004t0004g0204 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1000-165C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | chr21 | 46117235 | |||||||
chr21:46117295 | G | A | 1 | a0003c0004t0006g0207 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1000-105G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | chr21 | 46117295 | |||||||
chr21:46117308 | G | A | 4 | a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0107 others(1): Show |
5 | HG00140.hp1 HG01069.hp2 HG01106.hp2 others(2): Show |
intron_variant | MODIFIER | c.1000-92G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | chr21 | 46117308 | |||||||
chr21:46117511 | C | T | 12 | a0001c0006t0005g0233 a0001c0006t0005g0234 a0001c0006t0005g0235 others(9): Show |
12 | HG01261.hp2 HG01891.hp1 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.1053+58C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 11/27 | chr21 | 46117511 | |||||||
chr21:46117545 | G | A | 3 | a0001c0002t0002g0278 a0001c0002t0002g0323 a0001c0025t0002g0279 |
3 | HG02922.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1053+92G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 11/27 | chr21 | 46117545 | |||||||
chr21:46117558 | GCAGCCCA others(7): Show |
G | 2 | a0001c0002t0002g0270 a0001c0030t0001g0157 |
2 | HG02698.hp2 NA18955.hp2 |
intron_variant | MODIFIER | c.1053+130_1053+143d others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr21 | 46117558 | ||||||
chr21:46117646 | G | A | 15 | a0001c0002t0002g0255 a0001c0002t0002g0267 a0001c0002t0002g0275 others(12): Show |
15 | HG00673.hp1 HG00735.hp1 HG00741.hp1 others(12): Show |
intron_variant | MODIFIER | c.1053+193G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 11/27 | chr21 | 46117646 | |||||||
chr21:46117752 | T | TG | 282 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(279): Show |
314 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.1054-119dupG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr21 | 46117752 | ||||||
chr21:46117774 | A | C | 3 | a0001c0005t0001g0260 a0001c0005t0001g0325 a0001c0005t0001g0326 |
3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1054-100A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 11/27 | chr21 | 46117774 | |||||||
chr21:46117942 | T | G | 1 | a0001c0005t0001g0131 | 1 | NA20129.hp1 | splice_region_variant&intron_variant | LOW | c.1116+6T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46117942 | |||||||
chr21:46117958 | C | T | 5 | a0002c0008t0001g0094 a0002c0008t0001g0095 a0004c0016t0003g0096 others(2): Show |
5 | HG02109.hp1 HG02647.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1116+22C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46117958 | |||||||
chr21:46117968 | G | A | 147 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(144): Show |
159 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(156): Show |
intron_variant | MODIFIER | c.1116+32G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46117968 | |||||||
chr21:46117975 | C | T | 1 | a0003c0004t0004g0196 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1116+39C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46117975 | |||||||
chr21:46118030 | G | A | 3 | a0004c0016t0003g0096 a0004c0016t0003g0097 a0004c0035t0003g0098 |
3 | HG02109.hp1 HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1116+94G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118030 | |||||||
chr21:46118059 | G | A | 2 | a0001c0001t0001g0109 a0001c0001t0001g0124 |
2 | HG02622.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1116+123G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118059 | |||||||
chr21:46118086 | G | A | 1 | a0001c0002t0002g0018 | 2 | NA18971.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.1116+150G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118086 | |||||||
chr21:46118136 | G | A | 257 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(254): Show |
288 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(285): Show |
intron_variant | MODIFIER | c.1116+200G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118136 | |||||||
chr21:46118157 | G | A | 232 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(229): Show |
263 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(260): Show |
intron_variant | MODIFIER | c.1116+221G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118157 | |||||||
chr21:46118196 | G | A | 1 | a0001c0002t0002g0293 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1116+260G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118196 | |||||||
chr21:46118232 | G | A | 1 | a0001c0002t0002g0290 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1116+296G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118232 | |||||||
chr21:46118281 | C | T | 1 | a0002c0003t0003g0059 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1117-333C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118281 | |||||||
chr21:46118282 | G | A | 1 | a0003c0004t0004g0204 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1117-332G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118282 | |||||||
chr21:46118335 | G | A | 7 | a0001c0001t0001g0037 a0001c0001t0001g0109 a0001c0001t0001g0124 others(4): Show |
7 | HG00733.hp2 HG01169.hp2 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.1117-279G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118335 | |||||||
chr21:46118396 | A | T | 283 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(280): Show |
315 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(312): Show |
intron_variant | MODIFIER | c.1117-218A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118396 | |||||||
chr21:46118410 | C | T | 23 | a0003c0004t0002g0046 a0003c0004t0003g0191 a0003c0004t0004g0017 others(20): Show |
24 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(21): Show |
intron_variant | MODIFIER | c.1117-204C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118410 | |||||||
chr21:46118411 | G | A | 7 | a0001c0006t0006g0236 a0001c0006t0006g0245 a0001c0006t0006g0246 others(4): Show |
7 | HG01261.hp2 HG02559.hp2 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.1117-203G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118411 | |||||||
chr21:46118525 | C | T | 9 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0044 others(6): Show |
9 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1117-89C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118525 | |||||||
chr21:46118530 | C | T | 1 | a0002c0003t0003g0079 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1117-84C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118530 | |||||||
chr21:46118558 | C | G | 3 | a0001c0005t0001g0260 a0001c0005t0001g0325 a0001c0005t0001g0326 |
3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1117-56C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | chr21 | 46118558 | |||||||
chr21:46118564 | C | CCCCCTTC others(13): Show |
1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1117-48_1117-29dup others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr21 | 46118564 | ||||||
chr21:46118758 | C | T | 1 | a0002c0008t0005g0073 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1179+82C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 13/27 | chr21 | 46118758 | |||||||
chr21:46118777 | G | T | 121 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 others(118): Show |
139 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(136): Show |
intron_variant | MODIFIER | c.1179+101G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 13/27 | chr21 | 46118777 | |||||||
chr21:46118971 | C | T | 1 | a0001c0001t0001g0115 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1180-59C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 13/27 | chr21 | 46118971 | |||||||
chr21:46118972 | G | A | 1 | a0001c0029t0001g0140 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1180-58G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 13/27 | chr21 | 46118972 | |||||||
chr21:46119151 | C | T | 7 | a0001c0009t0001g0108 a0001c0009t0001g0113 a0001c0009t0001g0117 others(4): Show |
7 | HG01257.hp1 HG01258.hp2 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.1269+32C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119151 | |||||||
chr21:46119212 | G | A | 1 | a0002c0003t0003g0085 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1269+93G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119212 | |||||||
chr21:46119293 | A | C | 3 | a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0040t0003g0229 |
3 | HG02809.hp1 HG02818.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.1269+174A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119293 | |||||||
chr21:46119332 | T | C | 1 | a0001c0002t0002g0308 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1269+213T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119332 | |||||||
chr21:46119392 | C | T | 2 | a0001c0002t0010g0125 a0001c0002t0010g0292 |
2 | HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.1269+273C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119392 | |||||||
chr21:46119455 | G | A | 1 | a0009c0032t0006g0226 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1270-333G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119455 | |||||||
chr21:46119566 | C | T | 1 | a0001c0006t0005g0062 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1270-222C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119566 | |||||||
chr21:46119598 | G | A | 1 | a0003c0007t0003g0232 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1270-190G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119598 | |||||||
chr21:46119619 | T | C | 124 | a0001c0001t0001g0049 a0001c0001t0001g0110 a0001c0001t0001g0147 others(121): Show |
142 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(139): Show |
intron_variant | MODIFIER | c.1270-169T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119619 | |||||||
chr21:46119644 | G | C | 2 | a0001c0010t0001g0169 a0001c0010t0001g0188 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1270-144G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 14/27 | chr21 | 46119644 | |||||||
chr21:46119876 | A | G | 284 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(281): Show |
316 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
intron_variant | MODIFIER | c.1332+26A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46119876 | |||||||
chr21:46119897 | T | C | 1 | a0002c0039t0003g0066 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1332+47T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46119897 | |||||||
chr21:46119970 | A | C | 9 | a0001c0001t0001g0037 a0001c0001t0001g0109 a0001c0001t0001g0124 others(6): Show |
9 | HG00733.hp2 HG01169.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.1332+120A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46119970 | |||||||
chr21:46119982 | G | A | 1 | a0002c0003t0003g0027 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1332+132G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46119982 | |||||||
chr21:46120064 | G | T | 1 | a0001c0002t0002g0297 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1332+214G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120064 | |||||||
chr21:46120093 | G | C | 1 | a0001c0030t0001g0157 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1332+243G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120093 | |||||||
chr21:46120094 | G | C | 1 | a0001c0030t0001g0157 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1332+244G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120094 | |||||||
chr21:46120109 | A | G | 7 | a0001c0030t0001g0157 a0003c0007t0007g0044 a0003c0007t0007g0050 others(4): Show |
7 | HG00423.hp2 HG00597.hp1 HG02698.hp2 others(4): Show |
intron_variant | MODIFIER | c.1332+259A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120109 | |||||||
chr21:46120121 | C | G | 140 | a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0107 others(137): Show |
158 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(155): Show |
intron_variant | MODIFIER | c.1332+271C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120121 | |||||||
chr21:46120122 | GGCC | G | 139 | a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0107 others(136): Show |
157 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.1332+273_1332+275d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120122 | |||||||
chr21:46120123 | G | C | 1 | a0001c0001t0001g0189 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1332+273G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120123 | |||||||
chr21:46120125 | C | CACTGAGG others(78): Show |
1 | a0001c0001t0001g0189 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1332+275_1332+276i others(87): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120125 | |||||||
chr21:46120125 | C | CCCACTGA others(50): Show |
1 | a0001c0001t0001g0112 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.1332+277_1332+278i others(59): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | ||||||
chr21:46120125 | C | CCCCACTG others(21): Show |
2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1332+289_1332+290i others(30): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | ||||||
chr21:46120125 | C | CCCCACTG others(51): Show |
8 | a0001c0002t0007g0198 a0001c0005t0003g0248 a0003c0007t0001g0201 others(5): Show |
9 | HG01243.hp1 HG01516.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.1332+289_1332+290i others(60): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | ||||||
chr21:46120125 | C | CCCCACTG others(50): Show |
105 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(102): Show |
117 | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(114): Show |
intron_variant | MODIFIER | c.1332+285_1332+286i others(59): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | ||||||
chr21:46120136 | C | T | 29 | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0061 others(26): Show |
31 | HG00323.hp1 HG00558.hp2 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.1332+286C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120136 | |||||||
chr21:46120140 | T | G | 22 | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0061 others(19): Show |
23 | HG00323.hp1 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.1332+290T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120140 | |||||||
chr21:46120143 | T | C | 22 | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0061 others(19): Show |
23 | HG00323.hp1 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.1332+293T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120143 | |||||||
chr21:46120144 | A | AC | 11 | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0061 others(8): Show |
12 | HG00323.hp1 HG01168.hp2 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.1332+299dupC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120144 | ||||||
chr21:46120151 | G | GCC | 10 | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0061 others(7): Show |
11 | HG00323.hp1 HG01168.hp2 HG01255.hp1 others(8): Show |
intron_variant | MODIFIER | c.1332+303_1332+304d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120151 | ||||||
chr21:46120164 | T | C | 1 | a0001c0005t0002g0174 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1332+314T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120164 | |||||||
chr21:46120185 | G | T | 1 | a0002c0003t0008g0220 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1333-330G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120185 | |||||||
chr21:46120251 | G | A | 27 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(24): Show |
27 | HG00639.hp2 HG01261.hp2 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.1333-264G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120251 | |||||||
chr21:46120272 | C | T | 130 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(127): Show |
143 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.1333-243C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120272 | |||||||
chr21:46120273 | G | A | 1 | a0001c0002t0002g0308 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1333-242G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120273 | |||||||
chr21:46120286 | C | T | 211 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(208): Show |
241 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(238): Show |
intron_variant | MODIFIER | c.1333-229C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120286 | |||||||
chr21:46120295 | G | A | 2 | a0001c0001t0001g0118 a0001c0001t0001g0150 |
2 | NA18951.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.1333-220G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120295 | |||||||
chr21:46120317 | A | C | 301 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(298): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.1333-198A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120317 | |||||||
chr21:46120320 | G | T | 2 | a0001c0006t0005g0234 a0001c0006t0005g0235 |
2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1333-195G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120320 | |||||||
chr21:46120346 | C | T | 126 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(123): Show |
139 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.1333-169C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120346 | |||||||
chr21:46120347 | G | A | 2 | a0002c0003t0003g0056 a0002c0003t0003g0080 |
2 | HG03669.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1333-168G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120347 | |||||||
chr21:46120383 | G | A | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1333-132G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120383 | |||||||
chr21:46120435 | C | T | 13 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0016 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1333-80C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120435 | |||||||
chr21:46120507 | T | C | 92 | a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0002t0002g0001 others(89): Show |
110 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(107): Show |
splice_region_variant&intron_variant | LOW | c.1333-8T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 15/27 | chr21 | 46120507 | |||||||
chr21:46120635 | GCTGCACC others(20): Show |
G | 2 | a0003c0004t0003g0191 a0003c0007t0003g0232 |
2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1395+77_1395+103de others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr21 | 46120635 | ||||||
chr21:46120659 | G | A | 100 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(97): Show |
110 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(107): Show |
intron_variant | MODIFIER | c.1395+82G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 16/27 | chr21 | 46120659 | |||||||
chr21:46120662 | ACTGCACC others(25): Show |
A | 2 | a0001c0002t0002g0250 a0001c0002t0002g0251 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1395+101_1395+132d others(34): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr21 | 46120662 | ||||||
chr21:46120746 | G | A | 1 | a0001c0001t0001g0100 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.1395+169G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 16/27 | chr21 | 46120746 | |||||||
chr21:46120811 | G | A | 133 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(130): Show |
146 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(143): Show |
intron_variant | MODIFIER | c.1395+234G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 16/27 | chr21 | 46120811 | |||||||
chr21:46120928 | G | C | 21 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1396-133G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 16/27 | chr21 | 46120928 | |||||||
chr21:46120958 | C | T | 4 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(1): Show |
4 | HG02559.hp1 HG02615.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1396-103C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 16/27 | chr21 | 46120958 | |||||||
chr21:46120971 | A | C | 2 | a0001c0001t0001g0042 a0001c0001t0001g0112 |
2 | NA18948.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.1396-90A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 16/27 | chr21 | 46120971 | |||||||
chr21:46120999 | C | T | 2 | a0001c0002t0002g0250 a0001c0002t0002g0251 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1396-62C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 16/27 | chr21 | 46120999 | |||||||
chr21:46121192 | C | T | 1 | a0002c0034t0008g0048 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1458+69C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 17/27 | chr21 | 46121192 | |||||||
chr21:46121205 | G | A | 1 | a0003c0004t0004g0205 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1458+82G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 17/27 | chr21 | 46121205 | |||||||
chr21:46121348 | G | A | 1 | a0001c0002t0002g0269 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1459-208G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 17/27 | chr21 | 46121348 | |||||||
chr21:46121379 | C | T | 1 | a0001c0006t0008g0300 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1459-177C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 17/27 | chr21 | 46121379 | |||||||
chr21:46121388 | A | G | 22 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(19): Show |
24 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.1459-168A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 17/27 | chr21 | 46121388 | |||||||
chr21:46121393 | G | A | 1 | a0001c0006t0005g0233 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1459-163G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 17/27 | chr21 | 46121393 | |||||||
chr21:46121450 | C | T | 1 | a0009c0032t0006g0226 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1459-106C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 17/27 | chr21 | 46121450 | |||||||
chr21:46121480 | C | T | 1 | a0001c0028t0006g0244 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1459-76C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 17/27 | chr21 | 46121480 | |||||||
chr21:46121639 | A | G | 21 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1521+21A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/27 | chr21 | 46121639 | |||||||
chr21:46121653 | G | A | 1 | a0001c0001t0001g0179 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1521+35G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/27 | chr21 | 46121653 | |||||||
chr21:46121775 | C | T | 1 | a0001c0001t0001g0155 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1521+157C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/27 | chr21 | 46121775 | |||||||
chr21:46121790 | C | A | 1 | a0001c0006t0005g0233 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1521+172C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/27 | chr21 | 46121790 | |||||||
chr21:46121829 | C | T | 1 | a0002c0008t0005g0025 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1521+211C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/27 | chr21 | 46121829 | |||||||
chr21:46121893 | G | A | 2 | a0001c0006t0005g0234 a0001c0006t0005g0235 |
2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1522-215G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/27 | chr21 | 46121893 | |||||||
chr21:46121909 | C | CT | 50 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(47): Show |
52 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.1522-199_1522-198i others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/27 | chr21 | 46121909 | |||||||
chr21:46121972 | C | T | 1 | a0001c0002t0002g0297 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1522-136C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/27 | chr21 | 46121972 | |||||||
chr21:46122072 | T | C | 25 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(22): Show |
27 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(24): Show |
intron_variant | MODIFIER | c.1522-36T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 18/27 | chr21 | 46122072 | |||||||
chr21:46122183 | C | T | 1 | a0001c0001t0001g0049 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1572+25C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 19/27 | chr21 | 46122183 | |||||||
chr21:46122306 | C | T | 133 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(130): Show |
146 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(143): Show |
intron_variant | MODIFIER | c.1572+148C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 19/27 | chr21 | 46122306 | |||||||
chr21:46122384 | C | T | 1 | a0001c0001t0001g0135 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1573-112C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 19/27 | chr21 | 46122384 | |||||||
chr21:46122385 | C | G | 1 | a0001c0001t0001g0135 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1573-111C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 19/27 | chr21 | 46122385 | |||||||
chr21:46122425 | A | C | 1 | a0004c0035t0003g0098 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1573-71A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 19/27 | chr21 | 46122425 | |||||||
chr21:46122464 | C | T | 13 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0016 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1573-32C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 19/27 | chr21 | 46122464 | |||||||
chr21:46122652 | C | CCCCAAGG others(6): Show |
1 | a0001c0001t0001g0104 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.1608+131_1608+132i others(15): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr21 | 46122652 | ||||||
chr21:46122703 | C | G | 2 | a0001c0012t0001g0237 a0001c0012t0001g0254 |
2 | HG01243.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1608+172C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122703 | |||||||
chr21:46122712 | G | A | 15 | a0003c0004t0004g0099 a0003c0004t0004g0195 a0003c0004t0004g0196 others(12): Show |
15 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(12): Show |
intron_variant | MODIFIER | c.1609-163G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122712 | |||||||
chr21:46122713 | TCCCTTTT others(16): Show |
T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1609-161_1609-139d others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122713 | |||||||
chr21:46122720 | T | C | 21 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1609-155T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122720 | |||||||
chr21:46122740 | G | GC | 334 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(331): Show |
367 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(364): Show |
intron_variant | MODIFIER | c.1609-134dupC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr21 | 46122740 | ||||||
chr21:46122741 | C | CCA | 3 | a0001c0002t0002g0294 a0001c0002t0002g0312 a0001c0012t0001g0254 |
3 | HG01243.hp2 NA18978.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.1609-134_1609-133i others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122741 | |||||||
chr21:46122759 | G | T | 1 | a0002c0003t0003g0085 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1609-116G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122759 | |||||||
chr21:46122760 | C | T | 1 | a0002c0003t0003g0085 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1609-115C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122760 | |||||||
chr21:46122770 | A | G | 1 | a0002c0003t0015g0075 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1609-105A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122770 | |||||||
chr21:46122822 | C | T | 3 | a0001c0002t0002g0021 a0001c0002t0002g0316 a0001c0002t0002g0318 |
4 | NA18943.hp1 NA18965.hp2 NA19065.hp1 others(1): Show |
intron_variant | MODIFIER | c.1609-53C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122822 | |||||||
chr21:46122839 | C | T | 1 | a0001c0002t0002g0019 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1609-36C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122839 | |||||||
chr21:46122865 | C | T | 21 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1609-10C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 20/27 | chr21 | 46122865 | |||||||
chr21:46122947 | A | G | 301 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(298): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.1671+10A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46122947 | |||||||
chr21:46122955 | G | A | 1 | a0001c0002t0002g0320 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1671+18G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46122955 | |||||||
chr21:46123117 | C | T | 30 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(27): Show |
31 | HG00639.hp2 HG01261.hp2 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.1671+180C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123117 | |||||||
chr21:46123129 | G | A | 1 | a0002c0003t0003g0060 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1671+192G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123129 | |||||||
chr21:46123177 | AAGGGTCC others(72): Show |
A | 30 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(27): Show |
31 | HG00639.hp2 HG01261.hp2 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.1671+254_1671+332d others(81): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123177 | ||||||
chr21:46123273 | C | T | 1 | a0002c0034t0008g0048 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1671+336C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123273 | |||||||
chr21:46123290 | C | A | 30 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(27): Show |
31 | HG00639.hp2 HG01261.hp2 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.1671+353C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123290 | |||||||
chr21:46123372 | T | C | 284 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(281): Show |
315 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(312): Show |
intron_variant | MODIFIER | c.1671+435T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123372 | |||||||
chr21:46123382 | A | G | 1 | a0001c0005t0001g0260 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1671+445A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123382 | |||||||
chr21:46123465 | G | A | 2 | a0001c0001t0001g0141 a0001c0001t0001g0176 |
2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1671+528G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123465 | |||||||
chr21:46123534 | G | A | 3 | a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0181 |
3 | NA18941.hp1 NA18983.hp2 NA19055.hp1 |
intron_variant | MODIFIER | c.1671+597G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123534 | |||||||
chr21:46123544 | TGGATGGG others(1): Show |
T | 2 | a0003c0007t0007g0016 a0003c0007t0007g0045 |
3 | HG01516.hp1 HG01517.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.1671+615_1671+622d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123544 | ||||||
chr21:46123628 | A | AGTGG | 21 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1671+700_1671+703d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123628 | ||||||
chr21:46123655 | A | ACATGGGT others(4): Show |
1 | a0001c0002t0002g0277 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1671+719_1671+729d others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123655 | ||||||
chr21:46123692 | G | A | 4 | a0002c0003t0001g0070 a0002c0003t0003g0071 a0003c0004t0003g0191 others(1): Show |
4 | HG02615.hp1 HG02922.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1671+755G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123692 | |||||||
chr21:46123695 | A | G | 283 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(280): Show |
314 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.1671+758A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123695 | |||||||
chr21:46123697 | G | A | 283 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(280): Show |
314 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.1671+760G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123697 | |||||||
chr21:46123700 | G | GATGGATG others(1): Show |
282 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(279): Show |
313 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
intron_variant | MODIFIER | c.1671+763_1671+764i others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123700 | |||||||
chr21:46123723 | G | A | 9 | a0001c0006t0006g0236 a0001c0006t0006g0245 a0001c0006t0006g0246 others(6): Show |
9 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1671+786G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123723 | |||||||
chr21:46123738 | TGATGGAT others(21): Show |
T | 13 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0016 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1671+811_1671+838d others(30): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123738 | ||||||
chr21:46123746 | G | C | 3 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0023t0001g0036 |
3 | HG02056.hp2 NA18943.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.1671+809G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123746 | |||||||
chr21:46123767 | GATGGATG others(17): Show |
G | 1 | a0001c0001t0001g0165 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1671+841_1672-850d others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123767 | ||||||
chr21:46123778 | GAGTGGGT others(17): Show |
G | 2 | a0001c0006t0005g0234 a0001c0006t0005g0235 |
2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1671+850_1672-841d others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123778 | ||||||
chr21:46123824 | A | ATGGGTGG others(1): Show |
88 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 others(85): Show |
105 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.1672-821_1672-820i others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123824 | ||||||
chr21:46123868 | C | CAGATGGA others(9): Show |
126 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(123): Show |
138 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.1672-775_1672-774i others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123868 | ||||||
chr21:46123869 | AGATG | A | 5 | a0001c0002t0002g0290 a0001c0002t0010g0125 a0001c0002t0010g0291 others(2): Show |
5 | HG00735.hp1 HG00741.hp1 HG01074.hp2 others(2): Show |
intron_variant | MODIFIER | c.1672-772_1672-769d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123869 | ||||||
chr21:46123871 | A | ATGGATAA others(9): Show |
22 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(19): Show |
24 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.1672-775_1672-774i others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123871 | ||||||
chr21:46123877 | G | A | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-774G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123877 | |||||||
chr21:46123878 | G | A | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-773G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123878 | |||||||
chr21:46123884 | TG | T | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-766delG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123884 | |||||||
chr21:46123887 | GTCA | G | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-763_1672-761d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123887 | |||||||
chr21:46123891 | G | A | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-760G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123891 | |||||||
chr21:46123897 | A | G | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-754A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123897 | |||||||
chr21:46123900 | TGGATGGG others(12): Show |
T | 126 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(123): Show |
138 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.1672-744_1672-726d others(21): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123900 | ||||||
chr21:46123903 | A | G | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-748A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123903 | |||||||
chr21:46123906 | G | A | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-745G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123906 | |||||||
chr21:46123909 | G | C | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-742G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123909 | |||||||
chr21:46123910 | G | A | 40 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(37): Show |
41 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.1672-741G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123910 | |||||||
chr21:46123919 | A | AT | 39 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0112 others(36): Show |
40 | HG01099.hp1 HG01261.hp2 HG01346.hp1 others(37): Show |
intron_variant | MODIFIER | c.1672-732_1672-731i others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123919 | |||||||
chr21:46123940 | G | A | 21 | a0001c0002t0007g0198 a0001c0002t0009g0022 a0001c0002t0009g0253 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1672-711G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123940 | |||||||
chr21:46123959 | AGATGGGT others(17): Show |
A | 6 | a0001c0006t0006g0236 a0001c0006t0006g0245 a0001c0006t0006g0246 others(3): Show |
6 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1672-683_1672-660d others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123959 | ||||||
chr21:46123968 | TGTGA | T | 13 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0016 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1672-675_1672-672d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123968 | ||||||
chr21:46123980 | G | A | 3 | a0001c0002t0002g0276 a0001c0002t0002g0306 a0003c0007t0002g0026 |
3 | HG00597.hp2 HG00673.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.1672-671G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46123980 | |||||||
chr21:46124003 | G | A | 1 | a0001c0001t0001g0040 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1672-648G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124003 | |||||||
chr21:46124017 | ATGAGTGG others(16): Show |
A | 77 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 others(74): Show |
93 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(90): Show |
intron_variant | MODIFIER | c.1672-631_1672-609d others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124017 | ||||||
chr21:46124035 | G | A | 2 | a0001c0005t0003g0002 a0001c0005t0003g0011 |
2 | HG00280.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.1672-616G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124035 | |||||||
chr21:46124058 | G | A | 1 | a0001c0030t0001g0157 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1672-593G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124058 | |||||||
chr21:46124141 | A | G | 22 | a0001c0010t0001g0169 a0001c0010t0001g0188 a0003c0004t0004g0017 others(19): Show |
23 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(20): Show |
intron_variant | MODIFIER | c.1672-510A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124141 | |||||||
chr21:46124152 | T | G | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-499T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124152 | |||||||
chr21:46124169 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-482G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124169 | |||||||
chr21:46124176 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-475G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124176 | |||||||
chr21:46124178 | ATGGGTGG others(52): Show |
A | 7 | a0003c0007t0001g0201 a0003c0007t0007g0044 a0003c0007t0007g0050 others(4): Show |
7 | HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.1672-462_1672-404d others(61): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124178 | ||||||
chr21:46124188 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-463G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124188 | |||||||
chr21:46124190 | A | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-461A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124190 | |||||||
chr21:46124192 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-459G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124192 | |||||||
chr21:46124193 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-458G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124193 | |||||||
chr21:46124194 | A | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-457A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124194 | |||||||
chr21:46124196 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-455G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124196 | |||||||
chr21:46124197 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-454G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124197 | |||||||
chr21:46124198 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-453G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124198 | |||||||
chr21:46124200 | T | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-451T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124200 | |||||||
chr21:46124202 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-449G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124202 | |||||||
chr21:46124202 | GTGGGTGG others(20): Show |
G | 1 | a0001c0001t0001g0189 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1672-442_1672-416d others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124202 | ||||||
chr21:46124205 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-446G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124205 | |||||||
chr21:46124206 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-445G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124206 | |||||||
chr21:46124208 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-443G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124208 | |||||||
chr21:46124209 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-442G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124209 | |||||||
chr21:46124212 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-439G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124212 | |||||||
chr21:46124213 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-438G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124213 | |||||||
chr21:46124214 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-437G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124214 | |||||||
chr21:46124216 | G | A | 1 | a0001c0001t0001g0010 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.1672-435G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124216 | |||||||
chr21:46124216 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-435G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124216 | |||||||
chr21:46124224 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-427G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124224 | |||||||
chr21:46124227 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-424G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124227 | |||||||
chr21:46124228 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-423G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124228 | |||||||
chr21:46124231 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-420G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124231 | |||||||
chr21:46124232 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-419G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124232 | |||||||
chr21:46124233 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-418G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124233 | |||||||
chr21:46124235 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-416G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124235 | |||||||
chr21:46124236 | ACTGGGTG others(25): Show |
A | 1 | a0001c0002t0005g0289 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1672-404_1672-373d others(34): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124236 | ||||||
chr21:46124238 | T | TATTTATT others(4): Show |
1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-413_1672-412i others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124238 | |||||||
chr21:46124240 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-411G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124240 | |||||||
chr21:46124244 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-407G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124244 | |||||||
chr21:46124247 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-404G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124247 | |||||||
chr21:46124248 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-403G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124248 | |||||||
chr21:46124251 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-400G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124251 | |||||||
chr21:46124252 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-399G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124252 | |||||||
chr21:46124253 | A | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-398A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124253 | |||||||
chr21:46124255 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-396G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124255 | |||||||
chr21:46124256 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-395G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124256 | |||||||
chr21:46124260 | A | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-391A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124260 | |||||||
chr21:46124261 | G | C | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-390G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124261 | |||||||
chr21:46124265 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-386G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124265 | |||||||
chr21:46124269 | C | A | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-382C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124269 | |||||||
chr21:46124270 | T | A | 2 | a0001c0001t0001g0039 a0002c0008t0005g0033 |
2 | HG01099.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.1672-381T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124270 | |||||||
chr21:46124271 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-380G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124271 | |||||||
chr21:46124273 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-378G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124273 | |||||||
chr21:46124281 | A | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-370A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124281 | |||||||
chr21:46124293 | TTGGGCGA others(1): Show |
T | 5 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0005t0001g0102 others(2): Show |
5 | HG01981.hp2 HG02630.hp2 HG04204.hp2 others(2): Show |
intron_variant | MODIFIER | c.1672-345_1672-338d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124293 | ||||||
chr21:46124295 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-356G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124295 | |||||||
chr21:46124299 | G | A | 2 | a0003c0004t0011g0190 a0003c0004t0011g0197 |
2 | HG02145.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.1672-352G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124299 | |||||||
chr21:46124301 | A | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-350A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124301 | |||||||
chr21:46124302 | T | G | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-349T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124302 | |||||||
chr21:46124313 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-338G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124313 | |||||||
chr21:46124323 | G | T | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-328G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124323 | |||||||
chr21:46124326 | C | T | 2 | a0001c0013t0002g0272 a0001c0031t0002g0296 |
2 | HG03927.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.1672-325C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124326 | |||||||
chr21:46124342 | A | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-309A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124342 | |||||||
chr21:46124343 | C | T | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-308C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124343 | |||||||
chr21:46124347 | A | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-304A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124347 | |||||||
chr21:46124348 | T | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-303T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124348 | |||||||
chr21:46124349 | A | T | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-302A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124349 | |||||||
chr21:46124372 | T | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-279T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124372 | |||||||
chr21:46124374 | G | T | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-277G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124374 | |||||||
chr21:46124375 | A | T | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-276A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124375 | |||||||
chr21:46124376 | A | C | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-275A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124376 | |||||||
chr21:46124382 | T | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-269T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124382 | |||||||
chr21:46124385 | T | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-266T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124385 | |||||||
chr21:46124386 | T | A | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-265T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124386 | |||||||
chr21:46124389 | G | A | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-262G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124389 | |||||||
chr21:46124394 | T | C | 285 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(282): Show |
317 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(314): Show |
intron_variant | MODIFIER | c.1672-257T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124394 | |||||||
chr21:46124394 | T | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-257T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124394 | |||||||
chr21:46124405 | C | A | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-246C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124405 | |||||||
chr21:46124406 | A | T | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-245A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124406 | |||||||
chr21:46124407 | C | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-244C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124407 | |||||||
chr21:46124408 | C | A | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-243C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124408 | |||||||
chr21:46124409 | C | G | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-242C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124409 | |||||||
chr21:46124412 | C | T | 1 | a0002c0008t0005g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-239C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124412 | |||||||
chr21:46124450 | G | A | 1 | a0002c0003t0008g0223 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1672-201G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124450 | |||||||
chr21:46124461 | C | T | 1 | a0001c0001t0001g0130 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1672-190C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124461 | |||||||
chr21:46124474 | T | C | 43 | a0001c0002t0007g0198 a0001c0006t0005g0058 a0001c0006t0005g0062 others(40): Show |
44 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.1672-177T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124474 | |||||||
chr21:46124537 | GC | G | 240 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(237): Show |
271 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show |
intron_variant | MODIFIER | c.1672-103delC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124537 | ||||||
chr21:46124537 | GCC | G | 42 | a0001c0002t0007g0198 a0001c0006t0005g0058 a0001c0006t0005g0062 others(39): Show |
43 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.1672-104_1672-103d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124537 | ||||||
chr21:46124539 | C | T | 3 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0172 |
3 | NA18979.hp2 NA18999.hp2 NA19055.hp1 |
intron_variant | MODIFIER | c.1672-112C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124539 | |||||||
chr21:46124540 | C | T | 134 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(131): Show |
147 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.1672-111C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124540 | |||||||
chr21:46124542 | C | T | 1 | a0001c0006t0008g0300 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1672-109C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124542 | |||||||
chr21:46124548 | C | T | 1 | a0001c0002t0002g0308 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1672-103C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124548 | |||||||
chr21:46124562 | C | T | 2 | a0003c0004t0004g0196 a0003c0004t0014g0213 |
2 | HG01257.hp2 NA18999.hp1 |
intron_variant | MODIFIER | c.1672-89C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124562 | |||||||
chr21:46124614 | G | T | 13 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0016 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1672-37G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124614 | |||||||
chr21:46124627 | C | G | 137 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(134): Show |
150 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(147): Show |
intron_variant | MODIFIER | c.1672-24C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124627 | |||||||
chr21:46124639 | G | A | 3 | a0001c0002t0002g0278 a0001c0002t0002g0323 a0001c0025t0002g0279 |
3 | HG02922.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1672-12G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | 46124639 | |||||||
chr21:46124748 | A | G | 43 | a0001c0002t0007g0198 a0001c0006t0005g0058 a0001c0006t0005g0062 others(40): Show |
44 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.1734+35A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 22/27 | chr21 | 46124748 | |||||||
chr21:46124813 | G | A | 77 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 others(74): Show |
93 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(90): Show |
intron_variant | MODIFIER | c.1735-72G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 22/27 | chr21 | 46124813 | |||||||
chr21:46124815 | C | T | 3 | a0001c0022t0006g0052 a0001c0026t0006g0051 a0001c0028t0006g0244 |
3 | HG02965.hp1 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1735-70C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 22/27 | chr21 | 46124815 | |||||||
chr21:46124855 | A | G | 20 | a0003c0004t0004g0017 a0003c0004t0004g0047 a0003c0004t0004g0099 others(17): Show |
21 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.1735-30A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 22/27 | chr21 | 46124855 | |||||||
chr21:46124924 | G | A | 77 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 others(74): Show |
93 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(90): Show |
splice_region_variant&intron_variant | LOW | c.1770+4G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/27 | chr21 | 46124924 | |||||||
chr21:46124934 | G | A | 1 | a0001c0001t0001g0133 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1770+14G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/27 | chr21 | 46124934 | |||||||
chr21:46125031 | G | A | 1 | a0001c0023t0001g0036 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1770+111G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/27 | chr21 | 46125031 | |||||||
chr21:46125041 | GAGGGCAA others(33): Show |
G | 1 | a0003c0007t0007g0200 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1770+132_1770+171d others(42): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr21 | 46125041 | ||||||
chr21:46125085 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1770+165G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/27 | chr21 | 46125085 | |||||||
chr21:46125107 | G | A | 74 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 others(71): Show |
90 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(87): Show |
intron_variant | MODIFIER | c.1771-159G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/27 | chr21 | 46125107 | |||||||
chr21:46125144 | C | T | 1 | a0001c0002t0002g0295 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1771-122C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/27 | chr21 | 46125144 | |||||||
chr21:46125241 | A | G | 284 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(281): Show |
316 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
intron_variant | MODIFIER | c.1771-25A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/27 | chr21 | 46125241 | |||||||
chr21:46125242 | C | G | 1 | a0001c0006t0005g0064 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1771-24C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 23/27 | chr21 | 46125242 | |||||||
chr21:46125396 | T | C | 41 | a0001c0002t0007g0198 a0001c0006t0005g0058 a0001c0006t0005g0062 others(38): Show |
42 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(39): Show |
intron_variant | MODIFIER | c.1817-69T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | chr21 | 46125396 | |||||||
chr21:46125403 | G | A | 2 | a0001c0006t0006g0236 a0001c0006t0006g0247 |
2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.1817-62G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | chr21 | 46125403 | |||||||
chr21:46125432 | C | T | 77 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 others(74): Show |
93 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(90): Show |
intron_variant | MODIFIER | c.1817-33C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | chr21 | 46125432 | |||||||
chr21:46125442 | C | T | 1 | a0001c0002t0012g0285 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1817-23C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | chr21 | 46125442 | |||||||
chr21:46125455 | A | AC | 83 | a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 others(80): Show |
100 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
splice_acceptor_variant&intron_variant | HIGH | c.1817-3dupC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | 46125455 | ||||||
chr21:46125682 | T | G | 2 | a0001c0002t0010g0125 a0001c0002t0010g0292 |
2 | HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.1969+65T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 25/27 | chr21 | 46125682 | |||||||
chr21:46125762 | G | C | 6 | a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0259 others(3): Show |
7 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(4): Show |
intron_variant | MODIFIER | c.1970-23G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 25/27 | chr21 | 46125762 | |||||||
chr21:46125770 | G | A | 1 | a0001c0001t0001g0215 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1970-15G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 25/27 | chr21 | 46125770 | |||||||
chr21:46126287 | C | T | 4 | a0001c0006t0006g0263 a0001c0006t0006g0264 a0001c0006t0006g0265 others(1): Show |
4 | HG02886.hp2 HG02897.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2422+50C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | chr21 | 46126287 | |||||||
chr21:46126330 | T | C | 180 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(177): Show |
194 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(191): Show |
intron_variant | MODIFIER | c.2422+93T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | chr21 | 46126330 | |||||||
chr21:46126349 | C | A | 22 | a0001c0002t0007g0198 a0001c0006t0008g0300 a0002c0003t0008g0218 others(19): Show |
23 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.2422+112C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | chr21 | 46126349 | |||||||
chr21:46126420 | T | C | 13 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0016 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2423-83T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | chr21 | 46126420 | |||||||
chr21:46126445 | G | A | 1 | a0003c0004t0011g0190 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2423-58G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | chr21 | 46126445 | |||||||
chr21:46126461 | G | A | 2 | a0001c0006t0005g0063 a0001c0006t0005g0064 |
2 | HG02615.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2423-42G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | chr21 | 46126461 | |||||||
chr21:46126468 | C | A | 21 | a0001c0002t0007g0198 a0001c0006t0008g0300 a0002c0003t0008g0218 others(18): Show |
21 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(18): Show |
intron_variant | MODIFIER | c.2423-35C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | chr21 | 46126468 | |||||||
chr21:46126476 | T | C | 1 | a0003c0007t0007g0016 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2423-27T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | chr21 | 46126476 | |||||||
chr21:46126476 | T | TGGCCC | 9 | a0001c0006t0008g0300 a0002c0003t0008g0218 a0002c0003t0008g0219 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2423-22_2423-18dup others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | 46126476 | ||||||
chr21:46126476 | T | TGGCCCGG others(8): Show |
12 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0044 others(9): Show |
12 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2423-18_2423-17ins others(15): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | 46126476 | ||||||
chr21:46126552 | G | C | 1 | a0001c0002t0002g0314 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2461+11G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126552 | |||||||
chr21:46126658 | C | T | 2 | a0001c0001t0001g0170 a0001c0001t0001g0185 |
2 | HG02080.hp2 NA18945.hp1 |
intron_variant | MODIFIER | c.2461+117C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126658 | |||||||
chr21:46126669 | C | T | 1 | a0001c0022t0006g0052 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2461+128C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126669 | |||||||
chr21:46126737 | C | T | 1 | a0001c0001t0001g0104 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.2461+196C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126737 | |||||||
chr21:46126744 | G | A | 2 | a0003c0004t0003g0191 a0003c0007t0003g0232 |
2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2461+203G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126744 | |||||||
chr21:46126759 | C | T | 1 | a0001c0002t0012g0285 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2461+218C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126759 | |||||||
chr21:46126840 | G | T | 3 | a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0262 |
4 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461+299G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126840 | |||||||
chr21:46126894 | T | G | 6 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(3): Show |
6 | HG01891.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.2461+353T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126894 | |||||||
chr21:46126916 | T | G | 1 | a0001c0027t0003g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2461+375T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126916 | |||||||
chr21:46126974 | T | C | 1 | a0009c0032t0006g0226 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2461+433T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46126974 | |||||||
chr21:46127064 | G | A | 3 | a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0262 |
4 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461+523G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127064 | |||||||
chr21:46127172 | G | T | 130 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(127): Show |
143 | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(140): Show |
intron_variant | MODIFIER | c.2461+631G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127172 | |||||||
chr21:46127220 | A | G | 297 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(294): Show |
329 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(326): Show |
intron_variant | MODIFIER | c.2461+679A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127220 | |||||||
chr21:46127294 | C | A | 23 | a0001c0006t0005g0233 a0001c0006t0006g0236 a0001c0006t0006g0245 others(20): Show |
23 | HG00639.hp2 HG01261.hp2 HG02055.hp2 others(20): Show |
intron_variant | MODIFIER | c.2461+753C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127294 | |||||||
chr21:46127317 | G | A | 10 | a0001c0006t0006g0236 a0001c0006t0006g0245 a0001c0006t0006g0246 others(7): Show |
10 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.2461+776G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127317 | |||||||
chr21:46127377 | C | T | 4 | a0001c0006t0006g0263 a0001c0006t0006g0264 a0001c0006t0006g0265 others(1): Show |
4 | HG02886.hp2 HG02897.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2461+836C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127377 | |||||||
chr21:46127418 | G | A | 137 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(134): Show |
150 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(147): Show |
intron_variant | MODIFIER | c.2461+877G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127418 | |||||||
chr21:46127443 | C | T | 1 | a0003c0004t0004g0204 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2461+902C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127443 | |||||||
chr21:46127462 | G | A | 10 | a0001c0006t0006g0236 a0001c0006t0006g0245 a0001c0006t0006g0246 others(7): Show |
10 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.2461+921G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127462 | |||||||
chr21:46127462 | G | T | 1 | a0002c0039t0003g0066 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2461+921G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127462 | |||||||
chr21:46127512 | C | T | 3 | a0001c0002t0010g0125 a0001c0002t0010g0291 a0001c0002t0010g0292 |
3 | HG00735.hp1 HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.2461+971C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127512 | |||||||
chr21:46127538 | C | T | 7 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(4): Show |
7 | HG01891.hp1 HG02559.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.2461+997C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127538 | |||||||
chr21:46127560 | G | A | 20 | a0003c0004t0004g0017 a0003c0004t0004g0047 a0003c0004t0004g0099 others(17): Show |
21 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.2461+1019G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127560 | |||||||
chr21:46127670 | C | T | 1 | a0003c0004t0004g0209 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2461+1129C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127670 | |||||||
chr21:46127678 | C | G | 7 | a0001c0006t0005g0058 a0001c0006t0005g0062 a0001c0006t0005g0063 others(4): Show |
7 | HG01891.hp1 HG02559.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.2461+1137C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127678 | |||||||
chr21:46127691 | A | G | 13 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0016 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2461+1150A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127691 | |||||||
chr21:46127726 | TG | T | 180 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(177): Show |
194 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(191): Show |
intron_variant | MODIFIER | c.2461+1191delG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | 46127726 | ||||||
chr21:46127748 | T | C | 301 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(298): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.2461+1207T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127748 | |||||||
chr21:46127780 | C | T | 1 | a0009c0032t0006g0226 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2461+1239C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127780 | |||||||
chr21:46127782 | T | A | 1 | a0002c0003t0003g0227 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2461+1241T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127782 | |||||||
chr21:46127860 | T | C | 144 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(141): Show |
159 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(156): Show |
intron_variant | MODIFIER | c.2461+1319T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127860 | |||||||
chr21:46127869 | G | T | 1 | a0001c0002t0002g0315 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.2462-1327G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127869 | |||||||
chr21:46127882 | C | T | 1 | a0001c0002t0002g0299 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.2462-1314C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127882 | |||||||
chr21:46127883 | G | A | 13 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0016 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2462-1313G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127883 | |||||||
chr21:46127926 | C | T | 35 | a0001c0002t0007g0198 a0001c0006t0006g0236 a0001c0006t0006g0245 others(32): Show |
36 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(33): Show |
intron_variant | MODIFIER | c.2462-1270C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127926 | |||||||
chr21:46127928 | C | T | 2 | a0001c0001t0001g0100 a0001c0001t0001g0101 |
2 | NA18943.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.2462-1268C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127928 | |||||||
chr21:46127944 | G | C | 1 | a0001c0027t0003g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2462-1252G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46127944 | |||||||
chr21:46128017 | C | T | 13 | a0001c0002t0007g0198 a0003c0007t0001g0201 a0003c0007t0007g0016 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2462-1179C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128017 | |||||||
chr21:46128077 | A | G | 1 | a0001c0001t0001g0148 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2462-1119A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128077 | |||||||
chr21:46128097 | T | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(185): Show |
203 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(200): Show |
intron_variant | MODIFIER | c.2462-1099T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128097 | |||||||
chr21:46128153 | G | A | 1 | a0002c0008t0005g0025 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2462-1043G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128153 | |||||||
chr21:46128205 | C | T | 2 | a0001c0002t0002g0316 a0001c0002t0002g0323 |
2 | NA18965.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2462-991C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128205 | |||||||
chr21:46128220 | C | T | 1 | a0001c0001t0001g0167 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.2462-976C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128220 | |||||||
chr21:46128238 | C | T | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2462-958C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128238 | |||||||
chr21:46128280 | C | T | 2 | a0001c0012t0001g0237 a0001c0012t0001g0254 |
2 | HG01243.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2462-916C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128280 | |||||||
chr21:46128329 | C | T | 2 | a0001c0001t0001g0100 a0001c0001t0001g0101 |
2 | NA18943.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.2462-867C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128329 | |||||||
chr21:46128334 | C | A | 1 | a0001c0001t0001g0100 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.2462-862C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128334 | |||||||
chr21:46128433 | G | A | 115 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(112): Show |
125 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(122): Show |
intron_variant | MODIFIER | c.2462-763G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128433 | |||||||
chr21:46128477 | A | G | 4 | a0001c0006t0006g0236 a0001c0006t0006g0247 a0002c0003t0006g0067 others(1): Show |
4 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.2462-719A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128477 | |||||||
chr21:46128484 | G | GTGGCCTG others(4): Show |
124 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(121): Show |
134 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(131): Show |
intron_variant | MODIFIER | c.2462-705_2462-695d others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | 46128484 | ||||||
chr21:46128576 | G | A | 7 | a0001c0006t0008g0300 a0002c0003t0003g0068 a0002c0003t0003g0225 others(4): Show |
7 | HG00639.hp2 HG01433.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.2462-620G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128576 | |||||||
chr21:46128641 | A | C | 146 | a0001c0001t0001g0104 a0001c0002t0002g0001 a0001c0002t0002g0004 others(143): Show |
165 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(162): Show |
intron_variant | MODIFIER | c.2462-555A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128641 | |||||||
chr21:46128695 | G | T | 1 | a0001c0027t0003g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2462-501G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128695 | |||||||
chr21:46128911 | G | A | 1 | a0001c0027t0003g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2462-285G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128911 | |||||||
chr21:46128939 | C | T | 2 | a0003c0018t0003g0239 a0003c0018t0003g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2462-257C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128939 | |||||||
chr21:46128940 | G | A | 2 | a0001c0002t0002g0020 a0001c0019t0002g0020 |
2 | NA18747.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.2462-256G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128940 | |||||||
chr21:46128991 | T | C | 2 | a0002c0003t0003g0068 a0002c0039t0003g0066 |
2 | HG02109.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2462-205T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46128991 | |||||||
chr21:46129041 | C | T | 3 | a0001c0006t0006g0263 a0001c0006t0006g0264 a0001c0006t0006g0265 |
3 | HG02886.hp2 HG02897.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2462-155C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46129041 | |||||||
chr21:46129123 | G | A | 1 | a0003c0007t0007g0016 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2462-73G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46129123 | |||||||
chr21:46129148 | C | T | 1 | a0001c0001t0001g0173 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2462-48C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46129148 | |||||||
chr21:46129176 | C | T | 1 | a0001c0001t0001g0184 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.2462-20C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | chr21 | 46129176 |