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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL19A1_chr6_69861556_70217468 | 69921270 | TATATATC | T | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0020a0002c0004t0001a0002c0006t0003others(1): Show | a0002c0003t0020g0071 a0002c0004t0001g0068 a0002c0006t0003g0065 others(2): Show |
5 | 180 | 0.0278 | -7 | c.267 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921388 | TATATATC | T | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00741.hp2 others(29): Show |
a0002a0005 | a0002c0003a0002c0004a0002c0006others(3): Show | a0002c0003t0002a0002c0003t0012a0002c0003t0021others(13): Show | a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0026 others(29): Show |
32 | 173 | 0.1850 | -7 | c.267 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921438 | TATATATC | T | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02723.hp1 others(4): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0012a0002c0003t0018a0002c0004t0001others(3): Show | a0002c0003t0012g0010 a0002c0003t0018g0014 a0002c0004t0001g0008 others(4): Show |
7 | 180 | 0.0389 | -7 | c.267 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69972677 | TATATAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(176): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(64): Show | a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0053 others(176): Show |
179 | 180 | 0.9944 | -7 | c.102 others(26): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL1A1_chr17_50179101_50206631 | 50199698 | AGCCCCAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(203): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 others(136): Show |
206 | 214 | 0.9626 | -7 | c.298 others(20): Show |
COL1A1 | ENSG00000108821.14 | transcript | ENST00000225964.10 | protein_coding | 2/50 | chr17 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56116396 | TAAAAAAA | T | intron_variant | MODIFIER | HG01071.hp1 HG01346.hp2 HG01515.hp2 others(2): Show |
a0001a0003a0006others(1): Show | a0001c0002a0003c0006a0006c0011others(1): Show | a0001c0002t0002a0003c0006t0007a0006c0011t0004others(1): Show | a0001c0002t0002g0196 a0003c0006t0007g0203 a0006c0011t0004g0090 others(2): Show |
5 | 29 | 0.1724 | -7 | c.175 others(26): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56159974 | CTGGTCAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01978.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0018 | a0001c0001t0005g0134 a0001c0001t0005g0154 a0001c0001t0005g0170 others(14): Show |
17 | 262 | 0.0649 | -7 | c.137 others(26): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 9/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56231803 | AAAGACAT | A | intron_variant | MODIFIER | HG02965.hp1 HG03471.hp1 HG06807.hp1 |
a0001a0010 | a0001c0007a0010c0023 | a0001c0007t0004a0010c0023t0010 | a0001c0007t0004g0065 a0001c0007t0004g0067 a0010c0023t0010g0011 |
3 | 262 | 0.0115 | -7 | c.-39 others(26): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138661740 | GTAAGACA | G | intron_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG02280.hp1 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0006a0001c0008others(16): Show | a0001c0002t0001a0001c0006t0001a0001c0008t0002others(20): Show | a0001c0002t0001g0101 a0001c0006t0001g0064 a0001c0006t0001g0112 others(23): Show |
26 | 156 | 0.1667 | -7 | c.324 others(24): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178259852 | TGCCCAGG | T | intron_variant | MODIFIER | HG02970.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 a0001c0001t0005g0216 |
2 | 236 | 0.0085 | -7 | c.703 others(22): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 11/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178490882 | TTTTACTG | T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02615.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0010others(3): Show | a0001c0001t0003g0119 a0001c0001t0005g0144 a0002c0002t0010g0228 others(3): Show |
6 | 236 | 0.0254 | -7 | c.361 others(26): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85756057 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(81): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0002c0007others(31): Show | a0001c0001t0002a0001c0001t0010a0001c0005t0002others(33): Show | a0001c0001t0002g0092 a0001c0001t0002g0113 a0001c0001t0002g0117 others(81): Show |
84 | 113 | 0.7434 | -7 | c.443 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 55/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85766384 | AAAAAAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01169.hp1 HG02055.hp1 others(11): Show |
a0001a0002a0003others(6): Show | a0001c0005a0002c0019a0002c0027others(8): Show | a0001c0005t0003a0002c0019t0003a0002c0027t0008others(8): Show | a0001c0005t0003g0224 a0002c0019t0003g0066 a0002c0019t0003g0070 others(11): Show |
14 | 236 | 0.0593 | -7 | c.437 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85780374 | ACCCTTTC | A | intron_variant | MODIFIER | HG01074.hp2 HG01934.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0100 others(5): Show |
8 | 236 | 0.0339 | -7 | c.433 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 52/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85799379 | TAAAAAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01071.hp2 others(42): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0001c0041others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(31): Show | a0001c0001t0001g0119 a0001c0001t0002g0155 a0001c0005t0003g0224 others(42): Show |
45 | 109 | 0.4128 | -7 | c.395 others(28): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85860031 | CTTACTAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02818.hp2 HG02970.hp1 others(1): Show |
a0020a0029a0041 | a0020c0022a0029c0068a0041c0057 | a0020c0022t0003a0020c0022t0011a0029c0068t0003others(1): Show | a0020c0022t0003g0017 a0020c0022t0011g0018 a0029c0068t0003g0169 others(1): Show |
4 | 236 | 0.0169 | -7 | c.330 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85940403 | CAAAAAAA | C | intron_variant | MODIFIER | HG02809.hp1 HG03139.hp2 HG03225.hp1 others(2): Show |
a0001a0003a0006others(1): Show | a0001c0005a0003c0011a0006c0063others(1): Show | a0001c0005t0003a0003c0011t0003a0006c0063t0002others(1): Show | a0001c0005t0003g0218 a0003c0011t0003g0211 a0003c0011t0003g0212 others(2): Show |
5 | 200 | 0.0250 | -7 | c.256 others(28): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86020061 | CTTTTTTT | C | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02818.hp2 others(3): Show |
a0006a0020a0034others(1): Show | a0006c0032a0020c0022a0034c0040others(1): Show | a0006c0032t0003a0006c0032t0012a0020c0022t0003others(3): Show | a0006c0032t0003g0068 a0006c0032t0012g0069 a0020c0022t0003g0017 others(3): Show |
6 | 73 | 0.0822 | -7 | c.225 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 18/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86097558 | CTTCTCCT | C | intron_variant | MODIFIER | HG03239.hp2 NA18960.hp2 NA18978.hp1 others(3): Show |
a0004a0006a0045 | a0004c0002a0006c0017a0006c0047others(1): Show | a0004c0002t0002a0006c0017t0005a0006c0017t0006others(2): Show | a0004c0002t0002g0184 a0006c0017t0005g0011 a0006c0017t0005g0016 others(3): Show |
6 | 236 | 0.0254 | -7 | c.160 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86108620 | TAAAAAAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01169.hp1 HG01169.hp2 others(3): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0005a0003c0003others(3): Show | a0001c0001t0002a0001c0005t0003a0003c0003t0002others(3): Show | a0001c0001t0002g0158 a0001c0005t0003g0060 a0003c0003t0002g0143 others(3): Show |
6 | 16 | 0.3750 | -7 | c.159 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86122091 | CCTTTAGT | C | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp2 HG02922.hp1 others(2): Show |
a0021a0033a0037others(1): Show | a0021c0051a0021c0052a0033c0054others(2): Show | a0021c0051t0002a0021c0052t0003a0033c0054t0004others(2): Show | a0021c0051t0002g0096 a0021c0052t0003g0098 a0033c0054t0004g0097 others(2): Show |
5 | 236 | 0.0212 | -7 | c.149 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 3/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86138968 | TTTGTTTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00741.hp1 others(87): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0016others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 others(87): Show |
90 | 236 | 0.3814 | -7 | c.121 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 2/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86144725 | CATTCATT | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp2 others(30): Show |
a0002a0006a0013others(10): Show | a0002c0007a0002c0027a0002c0056others(15): Show | a0002c0007t0001a0002c0007t0002a0002c0007t0003others(21): Show | a0002c0007t0001g0075 a0002c0007t0002g0076 a0002c0007t0002g0079 others(30): Show |
33 | 236 | 0.1398 | -7 | c.121 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 2/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108990240 | ATATATAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0021 | a0001c0001t0002g0071 a0001c0001t0006g0072 a0001c0002t0021g0082 |
3 | 118 | 0.0254 | -7 | c.439 others(26): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109000684 | TGCAGTGA | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00735.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0099 a0001c0001t0002g0111 a0001c0001t0003g0015 others(10): Show |
13 | 130 | 0.1000 | -7 | c.438 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109006378 | ATTTTTTT | A | intron_variant | MODIFIER | HG02145.hp1 HG02165.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0048 a0001c0001t0001g0074 a0001c0001t0002g0058 others(5): Show |
8 | 15 | 0.5333 | -7 | c.438 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109255634 | TTTAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp1 HG02056.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0002g0071 others(20): Show |
23 | 130 | 0.1769 | -7 | c.367 others(26): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101361770 | AGAAAAAG | A | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02055.hp1 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0020 | a0001c0001t0002a0002c0003t0001a0003c0020t0008 | a0001c0001t0002g0076 a0002c0003t0001g0060 a0003c0020t0008g0068 |
3 | 171 | 0.0175 | -7 | c.-12 others(18): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1104 | chr7 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101367682 | AAAAAAAG | A | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG01109.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0011a0001c0001t0014a0001c0005t0002others(3): Show | a0001c0001t0011g0130 a0001c0001t0014g0109 a0001c0005t0002g0128 others(3): Show |
6 | 172 | 0.0349 | -7 | c.158 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101377174 | TTTTTTCC | T | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0002a0001c0005t0005a0001c0005t0012others(2): Show | a0001c0001t0002g0064 a0001c0001t0002g0174 a0001c0005t0005g0162 others(3): Show |
6 | 172 | 0.0349 | -7 | c.158 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101390148 | GTTTTTTT | G | intron_variant | MODIFIER | HG00621.hp2 HG02809.hp2 NA18906.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0011others(2): Show | a0001c0001t0002g0121 a0001c0005t0002g0119 a0001c0005t0011g0161 others(2): Show |
5 | 42 | 0.1190 | -7 | c.158 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101405241 | ATTATACT | A | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02615.hp1 others(1): Show |
a0001a0002 | a0001c0005a0002c0004a0002c0007 | a0001c0005t0002a0002c0004t0001a0002c0007t0004 | a0001c0005t0002g0170 a0002c0004t0001g0171 a0002c0004t0001g0172 others(1): Show |
4 | 172 | 0.0233 | -7 | c.159 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489751 | TGTCTCTC | T | intron_variant | MODIFIER | HG03130.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0011a0001c0005t0005 | a0001c0001t0011g0107 a0001c0005t0005g0124 |
2 | 134 | 0.0149 | -7 | c.385 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101517798 | ATTTTTTT | A | intron_variant | MODIFIER | HG01257.hp2 HG02647.hp2 HG02897.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0003others(2): Show | a0001c0001t0005a0001c0014t0009a0002c0003t0001others(2): Show | a0001c0001t0005g0080 a0001c0014t0009g0116 a0002c0003t0001g0148 others(2): Show |
5 | 48 | 0.1042 | -7 | c.386 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114253365 | AGAAAGAC | A | intron_variant | MODIFIER | HG00558.hp1 NA18612.hp2 NA18954.hp2 others(1): Show |
a0002a0006a0007others(1): Show | a0002c0001a0006c0009a0007c0012others(1): Show | a0002c0001t0003a0006c0009t0038a0007c0012t0005others(1): Show | a0002c0001t0003g0303 a0006c0009t0038g0083 a0007c0012t0005g0257 others(1): Show |
4 | 306 | 0.0131 | -7 | c.314 others(24): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110145379 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(18): Show | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0064 others(36): Show |
39 | 118 | 0.3305 | -7 | c.*49 others(18): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110158572 | CATATTCA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(76): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(34): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(37): Show | a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0041 others(76): Show |
79 | 342 | 0.2310 | -7 | c.464 others(26): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 49/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110163984 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00735.hp1 others(98): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0013a0001c0019others(46): Show | a0001c0001t0001a0001c0013t0001a0001c0019t0001others(53): Show | a0001c0001t0001g0015 a0001c0013t0001g0004 a0001c0013t0001g0024 others(96): Show |
101 | 147 | 0.6871 | -7 | c.415 others(24): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 46/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110222771 | TTAAAAAA | T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA19087.hp1 |
a0001 | a0001c0003a0001c0016 | a0001c0003t0001a0001c0016t0003 | a0001c0003t0001g0092 a0001c0016t0003g0002 a0001c0016t0003g0109 |
3 | 79 | 0.0380 | -7 | c.145 others(24): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110240862 | TTTTTTGG | T | intron_variant | MODIFIER | HG00140.hp2 HG01255.hp1 HG01346.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0010a0001c0013others(8): Show | a0001c0007t0001a0001c0010t0001a0001c0013t0001others(8): Show | a0001c0007t0001g0048 a0001c0010t0001g0148 a0001c0013t0001g0052 others(10): Show |
13 | 342 | 0.0380 | -7 | c.144 others(24): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110248372 | GCCCTGGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(109): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(139): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 others(332): Show |
339 | 342 | 0.9912 | -7 | c.85- others(22): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110253254 | TAATTAGG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0007a0001c0010others(16): Show | a0001c0003t0001a0001c0007t0001a0001c0010t0001others(16): Show | a0001c0003t0001g0016 a0001c0003t0001g0095 a0001c0007t0001g0048 others(20): Show |
24 | 341 | 0.0704 | -7 | c.85- others(24): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227211141 | CAGGCACA | C | intron_variant | MODIFIER | HG00099.hp1 HG01934.hp1 HG01978.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0003 | a0001c0001t0001a0003c0002t0003a0004c0003t0019 | a0001c0001t0001g0152 a0001c0001t0001g0193 a0003c0002t0003g0219 others(2): Show |
5 | 342 | 0.0146 | -7 | c.88- others(24): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227235772 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01192.hp2 others(50): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0047a0002c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0199 others(50): Show |
53 | 68 | 0.7794 | -7 | c.88- others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227271461 | ATTTTTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG03017.hp2 others(5): Show |
a0001a0005a0011 | a0001c0001a0001c0042a0005c0005others(2): Show | a0001c0001t0002a0001c0042t0015a0005c0005t0007others(2): Show | a0001c0001t0002g0172 a0001c0001t0002g0298 a0001c0042t0015g0335 others(5): Show |
8 | 121 | 0.0661 | -7 | c.175 others(24): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 25/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041713 | AAGGGAGG | A | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp2 HG03540.hp2 others(1): Show |
a0001a0015a0019 | a0001c0001a0015c0013a0019c0016 | a0001c0001t0001a0015c0013t0006a0019c0016t0014 | a0001c0001t0001g0011 a0015c0013t0006g0156 a0015c0013t0006g0216 others(1): Show |
4 | 282 | 0.0142 | -7 | c.350 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227089638 | AAGGCTTT | A | intron_variant | MODIFIER | HG04204.hp2 HG04228.hp2 NA18993.hp2 |
a0003 | a0003c0003a0003c0014 | a0003c0003t0003a0003c0014t0002 | a0003c0003t0003g0085 a0003c0014t0002g0070 a0003c0014t0002g0094 |
3 | 254 | 0.0118 | -7 | c.145 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 21/47 | chr2 | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108218270 | GTTTCCCT | G | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG02083.hp1 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0009a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0003others(6): Show | a0001c0001t0001g0026 a0001c0001t0002g0013 a0001c0009t0003g0036 others(24): Show |
27 | 232 | 0.1164 | -7 | c.324 others(24): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 5/44 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108292993 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02647.hp1 others(7): Show |
a0003a0004 | a0003c0004a0003c0017a0004c0008 | a0003c0004t0004a0003c0004t0005a0003c0017t0002others(1): Show | a0003c0004t0004g0001 a0003c0004t0004g0002 a0003c0004t0004g0054 others(7): Show |
10 | 25 | 0.4000 | -7 | c.144 others(26): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134828462 | GCACACTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(78): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0002g0245 others(78): Show |
81 | 270 | 0.3000 | -7 | c.506 others(26): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |