view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | 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 | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A1_chr13_110143963_110312157 | 110145379 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02738.hp1 HG03239.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(5): Show | a0001c0001t0001g0131 a0001c0003t0001g0061 a0001c0007t0001g0048 others(6): Show |
9 | 88 | 0.1023 | 11 | c.*49 others(22): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110222771 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01169.hp1 HG01516.hp1 others(7): Show |
a0001a0010 | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0089 others(7): Show |
10 | 86 | 0.1163 | 11 | c.145 others(28): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252545 | A | ATATACAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0010a0001c0013a0002c0002others(5): Show | a0001c0010t0001a0001c0013t0001a0002c0002t0002others(5): Show | a0001c0010t0001g0051 a0001c0013t0001g0004 a0002c0002t0002g0286 others(5): Show |
9 | 332 | 0.0271 | 11 | c.85- others(26): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252705 | T | TATATACA others(4): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0296 | 1 | 342 | 0.0029 | 11 | c.85- others(26): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110261035 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01074.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0007others(9): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(9): Show | a0001c0001t0001g0021 a0001c0006t0001g0010 a0001c0007t0001g0122 others(9): Show |
12 | 220 | 0.0545 | 11 | c.85- others(28): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110261036 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01928.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0033a0001c0036others(12): Show | a0001c0007t0001a0001c0007t0005a0001c0033t0001others(15): Show | a0001c0007t0001g0151 a0001c0007t0005g0150 a0001c0033t0001g0099 others(17): Show |
20 | 24 | 0.8333 | 11 | c.85- others(28): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110288014 | T | TGGGAGGC others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(29): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(31): Show | a0001c0001t0001g0049 a0001c0003t0001g0076 a0001c0003t0001g0085 others(41): Show |
44 | 342 | 0.1287 | 11 | c.84+ others(28): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110469906 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0194 | 1 | 28 | 0.0357 | 11 | c.220 others(28): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 28/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227188066 | C | CTCCTTTA others(4): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02004.hp1 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0047a0002c0007others(3): Show | a0001c0001t0001a0001c0047t0002a0002c0007t0001others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(13): Show |
16 | 342 | 0.0468 | 11 | c.87+ others(28): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227220165 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 342 | 0.0029 | 11 | c.88- others(28): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0290 | 1 | 56 | 0.0179 | 11 | c.546 others(26): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03831.hp2 NA19084.hp2 |
a0004a0009 | a0004c0003a0009c0008 | a0004c0003t0004a0009c0008t0001 | a0004c0003t0004g0266 a0009c0008t0001g0088 |
2 | 57 | 0.0351 | 11 | c.546 others(26): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227302677 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02698.hp1 NA18990.hp1 |
a0001a0002a0006 | a0001c0001a0002c0027a0006c0013 | a0001c0001t0001a0002c0027t0003a0006c0013t0009 | a0001c0001t0001g0170 a0002c0027t0003g0342 a0006c0013t0009g0140 |
3 | 27 | 0.1111 | 11 | c.388 others(28): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227020873 | C | CTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 HG02896.hp2 others(5): Show |
a0002a0008a0012others(2): Show | a0002c0019a0008c0028a0012c0012others(3): Show | a0002c0019t0005a0008c0028t0034a0012c0012t0006others(3): Show | a0002c0019t0005g0029 a0008c0028t0034g0161 a0012c0012t0006g0032 others(5): Show |
8 | 159 | 0.0503 | 11 | c.421 others(30): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 44/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227041787 | G | GAAAGAAA others(4): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0017 | 1 | 188 | 0.0053 | 11 | c.350 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227045816 | A | ATATTTAG others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00673.hp1 others(22): Show |
a0003a0011a0013others(4): Show | a0003c0003a0003c0014a0003c0027others(8): Show | a0003c0003t0003a0003c0014t0002a0003c0027t0003others(9): Show | a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0072 others(22): Show |
25 | 278 | 0.0899 | 11 | c.328 others(30): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227047731 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0058 | 1 | 81 | 0.0123 | 11 | c.321 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 34/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227060101 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0058 | 1 | 82 | 0.0122 | 11 | c.216 others(26): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 27/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227091922 | G | GAAAAGAA others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 236 | 0.0042 | 11 | c.137 others(30): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 20/47 | chr2 | TogoVar | |||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | NA18986.hp1 NA21309.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 a0002c0002t0001g0036 |
2 | 100 | 0.0200 | 11 | c.81+ others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(15): Show |
18 | 116 | 0.1552 | 11 | c.81+ others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108526661 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 266 | 0.0038 | 11 | c.82- others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108531370 | T | TAAATAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 others(252): Show |
257 | 267 | 0.9625 | 11 | c.82- others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134759270 | A | ACATGCAC others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp2 others(55): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0002others(41): Show | a0001c0001t0005g0119 a0001c0002t0001g0144 a0001c0002t0001g0156 others(54): Show |
58 | 266 | 0.2180 | 11 | c.193 others(28): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | chr9 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134759273 | C | CATGCACA others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02109.hp2 others(1): Show |
a0001a0014 | a0001c0001a0001c0060a0001c0065others(1): Show | a0001c0001t0001a0001c0060t0004a0001c0065t0003others(1): Show | a0001c0001t0001g0125 a0001c0060t0004g0240 a0001c0065t0003g0009 others(1): Show |
4 | 270 | 0.0148 | 11 | c.193 others(28): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134760541 | C | CATGCACA others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 270 | 0.0037 | 11 | c.193 others(30): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | chr9 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134826750 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0265 | 1 | 270 | 0.0037 | 11 | c.506 others(28): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134828555 | C | CACCACAC others(4): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02970.hp2 |
a0001 | a0001c0005a0001c0025 | a0001c0005t0022a0001c0025t0015 | a0001c0005t0022g0086 a0001c0025t0015g0007 |
2 | 270 | 0.0074 | 11 | c.506 others(30): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | chr9 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9956800 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01255.hp2 others(16): Show |
a0002a0005a0007others(10): Show | a0002c0002a0002c0034a0005c0032others(11): Show | a0002c0002t0001a0002c0034t0002a0005c0032t0007others(12): Show | a0002c0002t0001g0341 a0002c0034t0002g0173 a0005c0032t0007g0172 others(15): Show |
19 | 96 | 0.1979 | 11 | c.*36 others(22): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 2760 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9977970 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0392 | 1 | 410 | 0.0024 | 11 | c.301 others(28): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 41/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9984942 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02559.hp2 |
a0014 | a0014c0008 | a0014c0008t0001 | a0014c0008t0001g0047 a0014c0008t0001g0048 a0014c0008t0001g0050 |
3 | 21 | 0.1429 | 11 | c.240 others(28): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981637 | T | TCCCCTCC others(4): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0118 | 1 | 111 | 0.0090 | 11 | c.-21 others(20): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 132 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981648 | C | CCCCTCCC others(4): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0025 | 1 | 117 | 0.0085 | 11 | c.-20 others(20): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 121 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981680 | T | TCCCCCTC others(4): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 54 | 0.0185 | 11 | c.-17 others(20): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 89 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981680 | T | TCCCCTCC others(4): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 1 | 54 | 0.0185 | 11 | c.-17 others(20): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 89 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45988046 | C | CGGGGGAC others(4): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0025 | 1 | 120 | 0.0083 | 11 | c.804 others(26): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46123655 | A | ACATGGGT others(4): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0277 | 1 | 370 | 0.0027 | 11 | c.167 others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46124238 | T | TATTTATT others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 370 | 0.0027 | 11 | c.167 others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46128484 | G | GTGGCCTG others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(131): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(121): Show |
134 | 370 | 0.3622 | 11 | c.246 others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134371 | G | GGGTCAGA others(4): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0009a0001c0021others(2): Show | a0001c0001t0001a0001c0009t0001a0001c0021t0001others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0009t0001g0108 others(4): Show |
7 | 370 | 0.0189 | 11 | c.*48 others(22): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4571 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46123655 | A | ACATGGGT others(4): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0275 | 1 | 362 | 0.0028 | 11 | c.167 others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46124238 | T | TATTTATT others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 362 | 0.0028 | 11 | c.167 others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46128484 | G | GTGGCCTG others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(126): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(121): Show |
129 | 362 | 0.3564 | 11 | c.246 others(30): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134371 | G | GGGTCAGA others(4): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0011t0001others(2): Show | a0001c0001t0001g0158 a0001c0006t0001g0166 a0001c0011t0001g0107 others(4): Show |
7 | 362 | 0.0193 | 11 | c.*18 others(22): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1524 | chr21 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237332117 | A | ATTATATA others(4): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01358.hp2 HG02148.hp1 others(2): Show |
a0001a0005a0006others(2): Show | a0001c0002a0005c0017a0006c0064others(2): Show | a0001c0002t0001a0005c0017t0002a0006c0064t0002others(2): Show | a0001c0002t0001g0113 a0005c0017t0002g0034 a0006c0064t0002g0047 others(2): Show |
5 | 77 | 0.0649 | 11 | c.932 others(30): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130590299 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0009 | a0009c0005 | a0009c0005t0002 | a0009c0005t0002g0062 | 1 | 135 | 0.0074 | 11 | c.421 others(28): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130636787 | T | TCCCCTCC others(4): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
a0023a0031 | a0023c0030a0031c0077 | a0023c0030t0001a0023c0030t0004a0031c0077t0001 | a0023c0030t0001g0155 a0023c0030t0004g0103 a0031c0077t0001g0147 |
3 | 257 | 0.0117 | 11 | c.509 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130636845 | C | CCCCTATC others(4): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123 | 1 | 234 | 0.0043 | 11 | c.509 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130673219 | A | ACAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0191 | 1 | 259 | 0.0039 | 11 | c.659 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130673220 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG03041.hp1 |
a0006a0024a0025 | a0006c0015a0024c0033a0025c0031 | a0006c0015t0012a0024c0033t0025a0025c0031t0012 | a0006c0015t0012g0033 a0024c0033t0025g0192 a0025c0031t0012g0025 |
3 | 191 | 0.0157 | 11 | c.659 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |