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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL3A1_chr2_188969373_189017746 | 189013488 | A | AATATATA others(7): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0052 |
2 | 376 | 0.0053 | 14 | c.*17 others(25): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 743 | chr2 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110145379 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 NA18953.hp1 NA18974.hp1 others(3): Show |
a0001a0004a0006 | a0001c0001a0001c0019a0004c0005others(3): Show | a0001c0001t0001a0001c0019t0001a0004c0005t0001others(3): Show | a0001c0001t0001g0032 a0001c0019t0001g0005 a0004c0005t0001g0144 others(3): Show |
6 | 344 | 0.0174 | 14 | c.*49 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110162197 | C | CACACACT others(7): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0024 | 1 | 344 | 0.0029 | 14 | c.446 others(29): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 48/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110169497 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03579.hp2 NA18906.hp2 |
a0001a0002 | a0001c0003a0002c0002a0002c0015 | a0001c0003t0001a0002c0002t0001a0002c0015t0001 | a0001c0003t0001g0095 a0002c0002t0001g0185 a0002c0015t0001g0231 |
3 | 344 | 0.0087 | 14 | c.387 others(31): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 43/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110198078 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01975.hp1 HG02155.hp1 others(1): Show |
a0001a0002a0004 | a0001c0016a0002c0040a0004c0022 | a0001c0016t0003a0002c0040t0002a0004c0022t0001 | a0001c0016t0003g0029 a0002c0040t0002g0274 a0002c0040t0002g0339 others(1): Show |
4 | 344 | 0.0116 | 14 | c.128 others(31): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 21/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110222771 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03225.hp1 HG04184.hp1 NA18963.hp1 |
a0001a0004 | a0001c0001a0004c0005a0004c0071 | a0001c0001t0001a0004c0005t0001a0004c0071t0001 | a0001c0001t0001g0011 a0004c0005t0001g0003 a0004c0071t0001g0084 |
3 | 344 | 0.0087 | 14 | c.145 others(31): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110247790 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02717.hp2 |
a0003a0004 | a0003c0012a0004c0078 | a0003c0012t0002a0004c0078t0001 | a0003c0012t0002g0318 a0004c0078t0001g0068 |
2 | 344 | 0.0058 | 14 | c.85- others(29): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252655 | A | ATATATAC others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(15): Show | a0001c0001t0001g0011 a0001c0003t0001g0105 a0001c0010t0001g0049 others(16): Show |
20 | 344 | 0.0581 | 14 | c.85- others(29): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGGAAG others(7): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 344 | 0.0029 | 14 | c.85- others(31): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110261035 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02015.hp2 HG03041.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0038others(1): Show | a0001c0001t0001a0002c0004t0001a0003c0038t0001others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0072 a0002c0004t0001g0204 others(2): Show |
5 | 344 | 0.0145 | 14 | c.85- others(31): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110509245 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01433.hp1 others(29): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0046others(24): Show | a0001c0001t0004g0290 a0001c0001t0005g0107 a0001c0001t0005g0192 others(29): Show |
32 | 372 | 0.0860 | 14 | c.488 others(33): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227195665 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02129.hp2 HG02559.hp2 others(1): Show |
a0002a0007a0011others(1): Show | a0002c0026a0007c0006a0011c0018others(1): Show | a0002c0026t0014a0007c0006t0005a0011c0018t0002others(1): Show | a0002c0026t0014g0071 a0007c0006t0005g0169 a0011c0018t0002g0104 others(1): Show |
4 | 344 | 0.0116 | 14 | c.87+ others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227195667 | A | ATATGTGT others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0006 | a0006c0010 | a0006c0010t0006 | a0006c0010t0006g0156 | 1 | 344 | 0.0029 | 14 | c.87+ others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202846 | C | CACATATA others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01358.hp2 HG02055.hp1 others(3): Show |
a0002a0003a0005 | a0002c0004a0002c0007a0003c0011others(1): Show | a0002c0004t0013a0002c0007t0010a0003c0011t0003others(1): Show | a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0010g0052 others(3): Show |
6 | 344 | 0.0174 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202982 | C | CACATATA others(7): Show |
intron_variant | MODIFIER | HG02970.hp1 NA19074.hp2 |
a0002a0006 | a0002c0004a0006c0010 | a0002c0004t0001a0006c0010t0006 | a0002c0004t0001g0168 a0006c0010t0006g0072 |
2 | 344 | 0.0058 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203018 | T | TATATGTA others(7): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0014 | 1 | 344 | 0.0029 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203034 | T | TATGTGTA others(7): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG02970.hp1 others(1): Show |
a0002a0006 | a0002c0004a0002c0007a0006c0010 | a0002c0004t0013a0002c0007t0010a0006c0010t0006 | a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0010g0052 others(1): Show |
4 | 344 | 0.0116 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203062 | T | TATGTGTA others(7): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0094 | 1 | 344 | 0.0029 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203081 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01516.hp2 others(5): Show |
a0002a0004a0011others(3): Show | a0002c0004a0004c0003a0011c0051others(3): Show | a0002c0004t0008a0004c0003t0004a0011c0051t0002others(3): Show | a0002c0004t0008g0240 a0002c0004t0008g0246 a0004c0003t0004g0254 others(5): Show |
8 | 344 | 0.0233 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203128 | T | TATGTGTA others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0020 | a0020c0050 | a0020c0050t0011 | a0020c0050t0011g0061 | 1 | 344 | 0.0029 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203195 | A | ATGTGTAT others(7): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0109 | 1 | 344 | 0.0029 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203270 | T | TATGTGTA others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0005g0051 |
3 | 344 | 0.0087 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227220136 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02080.hp2 NA19065.hp1 |
a0003a0008 | a0003c0002a0008c0009 | a0003c0002t0003a0008c0009t0001 | a0003c0002t0003g0123 a0008c0009t0001g0193 |
2 | 344 | 0.0058 | 14 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0007 | a0007c0006 | a0007c0006t0005 | a0007c0006t0005g0343 | 1 | 344 | 0.0029 | 14 | c.546 others(29): 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(7): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03486.hp1 HG03540.hp2 others(4): Show |
a0002a0003a0007others(2): Show | a0002c0007a0003c0011a0007c0006others(2): Show | a0002c0007t0010a0003c0011t0010a0007c0006t0005others(2): Show | a0002c0007t0010g0336 a0003c0011t0010g0341 a0007c0006t0005g0087 others(4): Show |
7 | 344 | 0.0204 | 14 | c.388 others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041848 | G | GAGAAAGA others(7): Show |
intron_variant | MODIFIER | NA18979.hp2 NA18999.hp2 |
a0005 | a0005c0007 | a0005c0007t0005 | a0005c0007t0005g0121 a0005c0007t0005g0134 |
2 | 284 | 0.0070 | 14 | c.350 others(31): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227045803 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0072 | a0001c0072t0039 | a0001c0072t0039g0204 | 1 | 284 | 0.0035 | 14 | c.328 others(33): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227047731 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02040.hp2 HG02132.hp2 others(9): Show |
a0002a0004a0006others(1): Show | a0002c0002a0002c0059a0002c0060others(4): Show | a0002c0002t0002a0002c0059t0005a0002c0060t0025others(4): Show | a0002c0002t0002g0033 a0002c0002t0002g0048 a0002c0002t0002g0092 others(9): Show |
12 | 284 | 0.0423 | 14 | c.321 others(31): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 34/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227089588 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01261.hp1 HG01358.hp2 others(8): Show |
a0002a0014 | a0002c0002a0014c0023 | a0002c0002t0002a0014c0023t0002 | a0002c0002t0002g0014 a0002c0002t0002g0073 a0002c0002t0002g0079 others(8): Show |
11 | 284 | 0.0387 | 14 | c.145 others(31): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 21/47 | chr2 | TogoVar | |||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0070 |
3 | 269 | 0.0112 | 14 | c.81+ others(31): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108678406 | C | CTACTCAC others(7): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 269 | 0.0037 | 14 | c.394 others(31): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108300724 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01192.hp1 HG01261.hp1 others(26): Show |
a0001 | a0001c0001a0001c0012a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 others(26): Show |
29 | 234 | 0.1239 | 14 | c.144 others(33): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108343165 | A | ATATATAG others(7): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 NA18957.hp2 others(2): Show |
a0002a0006 | a0002c0003a0006c0007 | a0002c0003t0001a0002c0003t0002a0006c0007t0001 | a0002c0003t0001g0029 a0002c0003t0002g0013 a0002c0003t0002g0014 others(2): Show |
5 | 234 | 0.0214 | 14 | c.64- others(31): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108343165 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18951.hp1 NA18967.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0020 a0002c0003t0001g0024 a0002c0003t0001g0025 |
3 | 234 | 0.0128 | 14 | c.64- others(31): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108377941 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02165.hp1 NA18951.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001a0002c0003t0002 | a0001c0001t0002g0012 a0002c0003t0001g0024 a0002c0003t0001g0025 others(1): Show |
4 | 234 | 0.0171 | 14 | c.63+ others(31): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134747961 | G | GCACACAT others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0072 | a0001c0072t0003 | a0001c0072t0003g0009 | 1 | 272 | 0.0037 | 14 | c.149 others(33): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 11/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189094588 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01167.hp2 others(16): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0133 others(16): Show |
19 | 248 | 0.0766 | 14 | c.457 others(31): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9956800 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01934.hp2 HG02698.hp2 |
a0021a0031a0044 | a0021c0030a0031c0128a0044c0147 | a0021c0030t0002a0031c0128t0001a0044c0147t0002 | a0021c0030t0002g0293 a0031c0128t0001g0170 a0044c0147t0002g0067 |
3 | 412 | 0.0073 | 14 | c.*36 others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 2760 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9977947 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01346.hp1 others(2): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0004 | a0001c0001t0001a0001c0003t0001a0008c0004t0002 | a0001c0001t0001g0321 a0001c0001t0001g0329 a0001c0001t0001g0353 others(2): Show |
5 | 412 | 0.0121 | 14 | c.301 others(31): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 41/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9984942 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0001 | a0001c0089a0001c0148 | a0001c0089t0001a0001c0148t0001 | a0001c0089t0001g0225 a0001c0148t0001g0284 |
2 | 412 | 0.0049 | 14 | c.240 others(31): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9988855 | A | AAAAAAGA others(7): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG03669.hp1 others(1): Show |
a0010a0024 | a0010c0146a0024c0031 | a0010c0146t0001a0024c0031t0001a0024c0031t0004 | a0010c0146t0001g0063 a0024c0031t0001g0296 a0024c0031t0001g0297 others(1): Show |
4 | 412 | 0.0097 | 14 | c.214 others(31): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 27/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45980808 | T | TCCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0012 | a0012c0047 | a0012c0047t0003 | a0012c0047t0003g0124 | 1 | 128 | 0.0078 | 14 | c.-10 others(25): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 961 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45980847 | G | GTGTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0027 | a0027c0048 | a0027c0048t0010 | a0027c0048t0010g0123 | 1 | 128 | 0.0078 | 14 | c.-10 others(25): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 922 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981651 | T | TCCCCTCC others(7): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01515.hp2 others(9): Show |
a0001a0007a0020others(2): Show | a0001c0002a0007c0041a0020c0022others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0016others(4): Show | a0001c0002t0002g0081 a0001c0002t0002g0094 a0001c0002t0002g0102 others(9): Show |
12 | 128 | 0.0938 | 14 | c.-20 others(23): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 118 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981662 | C | CCCGCCCC others(7): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0030 | a0030c0015 | a0030c0015t0004 | a0030c0015t0004g0018 | 1 | 128 | 0.0078 | 14 | c.-18 others(23): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 107 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981680 | T | TCCCCTCC others(7): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG01074.hp1 others(17): Show |
a0001a0002a0023others(4): Show | a0001c0002a0001c0003a0001c0011others(8): Show | a0001c0002t0003a0001c0003t0003a0001c0003t0006others(9): Show | a0001c0002t0003g0014 a0001c0002t0003g0020 a0001c0003t0003g0015 others(17): Show |
20 | 128 | 0.1563 | 14 | c.-17 others(23): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 89 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981793 | C | CGCGGCGG others(7): Show |
5_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0026 | a0026c0019 | a0026c0019t0011 | a0026c0019t0011g0125 | 1 | 128 | 0.0078 | 14 | c.-57 others(21): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/35 | 56 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46135606 | C | CCCCCTCA others(7): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(137): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0007a0001c0015others(31): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0009others(39): Show | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 others(123): Show |
140 | 364 | 0.3846 | 14 | c.*30 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2759 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46135805 | C | CCCCTCCC others(7): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(2): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 others(1): Show |
5 | 364 | 0.0137 | 14 | c.*32 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2958 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46135805 | C | CCCCTCCC others(7): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(104): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0009others(21): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0009others(26): Show | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 others(90): Show |
107 | 364 | 0.2940 | 14 | c.*32 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2958 | chr21 | TogoVar |