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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(22): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(12): Show | a0001c0001t0001g0114 a0001c0001t0002g0062 a0001c0001t0002g0111 others(22): Show |
25 | 174 | 0.1437 | 5 | c.386 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114151341 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG02257.hp2 HG03471.hp1 HG03540.hp2 others(1): Show |
a0012a0023a0046others(1): Show | a0012c0160a0023c0164a0046c0070others(1): Show | a0012c0160t0008a0023c0164t0029a0046c0070t0026others(1): Show | a0012c0160t0008g0007 a0023c0164t0029g0010 a0046c0070t0026g0240 others(1): Show |
4 | 308 | 0.0130 | 5 | c.-46 others(16): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 4195 | chr9 | TogoVar | |||||||
COL27A1_chr9_114150537_114317511 | 114262938 | A | ATTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0005others(5): Show | a0001c0017a0001c0043a0001c0149others(9): Show | a0001c0017t0006a0001c0043t0003a0001c0149t0001others(10): Show | a0001c0017t0006g0200 a0001c0043t0003g0220 a0001c0149t0001g0248 others(10): Show |
13 | 308 | 0.0422 | 5 | c.319 others(24): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 28/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114269634 | A | AAAAAG | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02145.hp1 others(3): Show |
a0001a0008a0010others(2): Show | a0001c0017a0008c0023a0010c0102others(3): Show | a0001c0017t0006a0008c0023t0003a0010c0102t0001others(3): Show | a0001c0017t0006g0200 a0008c0023t0003g0183 a0010c0102t0001g0027 others(3): Show |
6 | 308 | 0.0195 | 5 | c.355 others(22): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 35/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7374034 | A | ATATAT | intron_variant | MODIFIER | HG02109.hp1 NA20805.hp1 |
a0001a0012 | a0001c0007a0012c0029 | a0001c0007t0003a0012c0029t0003 | a0001c0007t0003g0148 a0012c0029t0003g0009 |
2 | 196 | 0.0102 | 5 | c.236 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7376727 | A | AATACT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0007others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0042 others(179): Show |
182 | 196 | 0.9286 | 5 | c.232 others(24): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 30/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7471125 | T | TAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG01891.hp1 HG02055.hp2 others(3): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0009 | a0002c0002t0002a0003c0003t0001a0009c0009t0003 | a0002c0002t0002g0182 a0003c0003t0001g0084 a0009c0009t0003g0180 others(3): Show |
6 | 196 | 0.0306 | 5 | c.130 others(24): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 15/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7522806 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02965.hp1 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0005a0002c0002a0002c0004others(2): Show | a0001c0005t0002a0002c0002t0001a0002c0004t0003others(2): Show | a0001c0005t0002g0069 a0002c0002t0001g0066 a0002c0004t0003g0032 others(3): Show |
6 | 196 | 0.0306 | 5 | c.703 others(20): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 4/34 | chr7 | TogoVar | |||||||
COL2A1_chr12_47967967_48009476 | 47999634 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0002t0001g0019 a0001c0002t0001g0039 a0001c0002t0001g0176 others(21): Show |
31 | 414 | 0.0749 | 5 | c.292 others(20): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 2/53 | chr12 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252477 | T | TATATG | intron_variant | MODIFIER | HG02056.hp2 HG02818.hp1 HG03516.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0084others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0084t0001others(1): Show | a0001c0001t0001g0089 a0002c0002t0002g0288 a0002c0084t0001g0173 others(1): Show |
4 | 344 | 0.0116 | 5 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252583 | C | CAAAAT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(106): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(58): Show | a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0040 others(106): Show |
109 | 344 | 0.3169 | 5 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252588 | A | ATATGT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(106): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(58): Show | a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0040 others(106): Show |
109 | 344 | 0.3169 | 5 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252640 | T | TATGTA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(49): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(60): Show | a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0040 others(109): Show |
112 | 344 | 0.3256 | 5 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110261036 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG00741.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0020others(15): Show | a0001c0001t0001a0001c0007t0001a0001c0020t0005others(17): Show | a0001c0001t0001g0097 a0001c0001t0001g0140 a0001c0007t0001g0065 others(21): Show |
24 | 344 | 0.0698 | 5 | c.85- others(22): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110424640 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00609.hp2 others(44): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0190 a0001c0001t0001g0363 a0001c0001t0002g0338 others(44): Show |
47 | 372 | 0.1263 | 5 | c.181 others(18): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110438810 | C | CCTCCA | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01167.hp2 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0190 a0001c0001t0002g0338 others(26): Show |
30 | 372 | 0.0807 | 5 | c.912 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 15/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110452756 | T | TTTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(96): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(67): Show | a0001c0001t0002g0306 a0001c0002t0001g0152 a0001c0002t0001g0193 others(96): Show |
99 | 372 | 0.2661 | 5 | c.133 others(24): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110469906 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01069.hp1 others(39): Show |
a0001a0002a0026others(3): Show | a0001c0001a0001c0008a0001c0021others(22): Show | a0001c0001t0005a0001c0008t0001a0001c0008t0002others(32): Show | a0001c0001t0005g0107 a0001c0008t0001g0108 a0001c0008t0001g0149 others(39): Show |
42 | 372 | 0.1129 | 5 | c.220 others(22): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 28/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110474127 | A | AAAAAG | intron_variant | MODIFIER | HG04228.hp2 NA18971.hp2 NA19001.hp2 others(3): Show |
a0001a0031 | a0001c0004a0001c0005a0031c0095 | a0001c0004t0004a0001c0004t0005a0001c0005t0001others(3): Show | a0001c0004t0004g0331 a0001c0004t0005g0104 a0001c0005t0001g0182 others(3): Show |
6 | 372 | 0.0161 | 5 | c.242 others(23): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 29/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110474915 | C | CTCCAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(139): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(104): Show | a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0231 others(139): Show |
142 | 372 | 0.3817 | 5 | c.242 others(24): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 29/47 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110499524 | C | CAAGAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(220): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(76): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(142): Show | a0001c0001t0001g0153 a0001c0001t0001g0195 a0001c0001t0002g0306 others(219): Show |
223 | 372 | 0.5995 | 5 | c.376 others(24): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 40/47 | chr13 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227170209 | T | TATTTC | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0047a0002c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0047t0002others(11): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 others(21): Show |
24 | 344 | 0.0698 | 5 | c.87+ others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227184836 | C | CTCTAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(122): Show |
a0001a0002a0003others(20): Show | a0001c0001a0002c0004a0002c0007others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0279 others(122): Show |
125 | 344 | 0.3634 | 5 | c.87+ others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227223757 | T | TAAAGC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(85): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0004a0002c0007others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(35): Show | a0001c0001t0001g0018 a0001c0001t0001g0205 a0001c0001t0001g0231 others(85): Show |
88 | 344 | 0.2558 | 5 | 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 | 227226475 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(58): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0047a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0100 others(58): Show |
61 | 344 | 0.1773 | 5 | 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 | 227230062 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00735.hp2 others(65): Show |
a0003a0005a0006others(11): Show | a0003c0002a0005c0005a0005c0020others(19): Show | a0003c0002t0001a0005c0005t0001a0005c0005t0002others(30): Show | a0003c0002t0001g0042 a0005c0005t0001g0032 a0005c0005t0001g0176 others(65): Show |
68 | 344 | 0.1977 | 5 | c.88- others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227236663 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00639.hp2 others(25): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0011a0003c0040others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0170 a0001c0001t0001g0205 others(25): Show |
28 | 344 | 0.0814 | 5 | c.88- others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227285277 | T | TAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01071.hp1 others(14): Show |
a0001a0005a0008others(4): Show | a0001c0001a0005c0005a0005c0020others(5): Show | a0001c0001t0002a0001c0001t0016a0005c0005t0002others(7): Show | a0001c0001t0002g0118 a0001c0001t0002g0144 a0001c0001t0002g0173 others(14): Show |
17 | 344 | 0.0494 | 5 | c.288 others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 34/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227302677 | C | CAAAAA | intron_variant | MODIFIER | HG02486.hp1 HG03195.hp2 HG03453.hp2 others(3): Show |
a0003a0006a0012others(1): Show | a0003c0002a0006c0010a0006c0016others(2): Show | a0003c0002t0001a0006c0010t0001a0006c0016t0001others(2): Show | a0003c0002t0001g0042 a0003c0002t0001g0263 a0006c0010t0001g0014 others(3): Show |
6 | 344 | 0.0174 | 5 | c.388 others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227012632 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(101): Show |
a0001a0002a0003others(18): Show | a0001c0010a0002c0002a0002c0021others(29): Show | a0001c0010t0005a0002c0002t0002a0002c0002t0004others(39): Show | a0001c0010t0005g0272 a0001c0010t0005g0275 a0001c0010t0005g0276 others(101): Show |
104 | 284 | 0.3662 | 5 | c.421 others(22): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 44/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227021825 | A | AAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(118): Show |
a0002a0004a0005others(15): Show | a0002c0002a0002c0021a0002c0059others(28): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(41): Show | a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 others(118): Show |
121 | 284 | 0.4261 | 5 | c.421 others(22): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 44/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227045779 | A | ATACAT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(33): Show |
a0003a0011a0013others(7): Show | a0003c0003a0003c0014a0003c0025others(12): Show | a0003c0003t0003a0003c0003t0030a0003c0014t0002others(14): Show | a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0057 others(33): Show |
36 | 284 | 0.1268 | 5 | c.328 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227045832 | A | AGATAG | intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG01258.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004 a0003c0003t0003g0093 a0003c0003t0003g0099 |
3 | 284 | 0.0106 | 5 | c.328 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227060101 | G | GAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(64): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0021others(9): Show | a0001c0001t0001a0001c0001t0022a0002c0002t0002others(16): Show | a0001c0001t0001g0200 a0001c0001t0001g0273 a0001c0001t0022g0119 others(64): Show |
67 | 284 | 0.2359 | 5 | c.216 others(20): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 27/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227091922 | G | GAAAGA | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG04204.hp1 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0007others(1): Show | a0001c0001t0001a0004c0004t0002a0005c0007t0005others(1): Show | a0001c0001t0001g0104 a0001c0001t0001g0224 a0004c0004t0002g0187 others(2): Show |
5 | 284 | 0.0176 | 5 | c.137 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 20/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227091948 | A | AAAGAC | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02486.hp2 others(6): Show |
a0007a0022a0031others(2): Show | a0007c0006a0007c0030a0022c0037others(3): Show | a0007c0006t0004a0007c0030t0004a0022c0037t0005others(3): Show | a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 others(6): Show |
9 | 284 | 0.0317 | 5 | c.137 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 20/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227104414 | C | CAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG02257.hp2 HG02559.hp1 others(4): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0072a0004c0050others(3): Show | a0001c0001t0001a0001c0072t0039a0004c0050t0005others(3): Show | a0001c0001t0001g0117 a0001c0001t0001g0258 a0001c0072t0039g0204 others(4): Show |
7 | 284 | 0.0247 | 5 | c.736 others(20): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 12/47 | chr2 | TogoVar | |||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATTT | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0218 | 1 | 269 | 0.0037 | 5 | c.81+ others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATTTTT | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 269 | 0.0037 | 5 | c.81+ others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108495403 | T | TAAATA | intron_variant | MODIFIER | NA19075.hp1 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0102 | 1 | 269 | 0.0037 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108502258 | A | AGTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01256.hp1 others(14): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0051 a0001c0001t0001g0074 a0001c0001t0001g0078 others(14): Show |
17 | 269 | 0.0632 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108526595 | C | CTCTTT | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 269 | 0.0037 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | TogoVar | |||||||
COL4A5_chrX_108434838_108702545 | 108526660 | C | CTTTCT | intron_variant | MODIFIER | HG01099.hp1 HG04184.hp1 NA18947.hp2 others(1): Show |
a0001a0009 | a0001c0001a0001c0012a0009c0015 | a0001c0001t0001a0001c0012t0001a0009c0015t0001 | a0001c0001t0001g0049 a0001c0001t0001g0232 a0001c0012t0001g0077 others(1): Show |
4 | 269 | 0.0149 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108526671 | C | CTTCTT | intron_variant | MODIFIER | HG04184.hp1 NA18966.hp1 |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0001a0009c0015t0001 | a0001c0001t0001g0049 a0009c0015t0001g0103 |
2 | 269 | 0.0074 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108623452 | T | TTTTCC | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
a0002a0005a0011 | a0002c0002a0002c0004a0002c0009others(2): Show | a0002c0002t0001a0002c0002t0013a0002c0004t0001others(6): Show | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 others(53): Show |
56 | 269 | 0.2082 | 5 | c.291 others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108698347 | G | GTTTGT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02258.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0223 others(3): Show |
6 | 269 | 0.0223 | 5 | c.*19 others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 803 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108185391 | G | GAAAAA | intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 234 | 0.0043 | 5 | c.195 others(24): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 23/44 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108309801 | A | ACACAC | intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0001 | 1 | 234 | 0.0043 | 5 | c.144 others(20): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108376607 | A | AAAAAT | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG02055.hp1 others(33): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0002g0008 others(33): Show |
36 | 234 | 0.1539 | 5 | c.63+ others(22): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134669235 | T | TCCTTC | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG01071.hp2 others(54): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0088 a0001c0001t0001g0212 a0001c0001t0002g0069 others(54): Show |
57 | 272 | 0.2096 | 5 | c.110 others(24): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |