regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL21A1_chr6_56051590_56252580 | 56159974 | CTGGTCAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01978.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0018 | a0001c0001t0005g0135a0001c0001t0005g0155a0001c0001t0005g0171others(14): Show | 17 | 264 | 0.0644 | -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 |
a0001a0013 | a0001c0007a0013c0023 | a0001c0007t0004a0013c0023t0010 | a0001c0007t0004g0065a0001c0007t0004g0067a0013c0023t0010g0011 | 3 | 264 | 0.0114 | -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 | a0001c0002t0001g0100a0001c0006t0001g0062a0001c0006t0001g0113others(23): Show | 26 | 158 | 0.1646 | -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 | a0001c0001t0005g0009a0001c0001t0005g0216 | 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 | a0001c0001t0003g0119a0001c0001t0005g0144a0002c0002t0010g0228others(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(82): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0002c0003others(31): Show | a0001c0001t0002a0001c0001t0010a0001c0005t0002others(33): Show | a0001c0001t0002g0092a0001c0001t0002g0113a0001c0001t0002g0117others(82): Show | 85 | 238 | 0.3571 | -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 | a0001c0005a0002c0003a0002c0011others(8): Show | a0001c0005t0003a0002c0003t0008a0002c0011t0003others(8): Show | a0001c0005t0003g0224a0002c0003t0008g0150a0002c0011t0003g0213others(11): Show | 14 | 238 | 0.0588 | -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 | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0100others(5): Show | 8 | 238 | 0.0336 | -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(20): Show | a0001c0001a0001c0005a0002c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(31): Show | a0001c0001t0001g0119a0001c0001t0002g0155a0001c0005t0003g0224others(42): Show | 45 | 238 | 0.1891 | -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 |
a0017a0038a0045 | a0017c0022a0038c0057a0045c0068 | a0017c0022t0003a0017c0022t0011a0038c0057t0003others(1): Show | a0017c0022t0003g0017a0017c0022t0011g0018a0038c0057t0003g0083others(1): Show | 4 | 238 | 0.0168 | -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 |
a0001a0002a0006others(1): Show | a0001c0005a0002c0011a0006c0063others(1): Show | a0001c0005t0003a0002c0011t0003a0006c0063t0002others(1): Show | a0001c0005t0003g0218a0002c0011t0003g0211a0002c0011t0003g0212others(2): Show | 5 | 238 | 0.0210 | -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 |
a0006a0017a0029others(1): Show | a0006c0032a0017c0022a0029c0040others(1): Show | a0006c0032t0003a0006c0032t0012a0017c0022t0003others(3): Show | a0006c0032t0003g0068a0006c0032t0012g0069a0017c0022t0003g0017others(3): Show | 6 | 238 | 0.0252 | -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 |
a0004a0006a0037 | a0004c0002a0006c0017a0006c0047others(1): Show | a0004c0002t0002a0006c0017t0005a0006c0017t0006others(2): Show | a0004c0002t0002g0183a0006c0017t0005g0011a0006c0017t0005g0016others(3): Show | 6 | 238 | 0.0252 | -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 |
a0001a0002a0006others(2): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0002a0001c0005t0003a0002c0003t0002others(3): Show | a0001c0001t0002g0158a0001c0005t0003g0060a0002c0003t0002g0143others(3): Show | 6 | 238 | 0.0252 | -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 |
a0019a0034a0035others(1): Show | a0019c0051a0019c0052a0034c0053others(2): Show | a0019c0051t0002a0019c0052t0003a0034c0053t0009others(2): Show | a0019c0051t0002g0096a0019c0052t0003g0098a0034c0053t0009g0006others(2): Show | 5 | 238 | 0.0210 | -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(88): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0164others(88): Show | 91 | 238 | 0.3824 | -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 |
a0003a0006a0013others(10): Show | a0003c0007a0003c0027a0003c0056others(15): Show | a0003c0007t0001a0003c0007t0002a0003c0007t0003others(21): Show | a0003c0007t0001g0075a0003c0007t0002g0076a0003c0007t0002g0079others(30): Show | 33 | 238 | 0.1387 | -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 | a0001c0001t0002g0071a0001c0001t0006g0072a0001c0002t0021g0082 | 3 | 130 | 0.0231 | -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 |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0094a0001c0001t0002g0111a0001c0001t0003g0016others(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 | a0001c0001t0001g0048a0001c0001t0001g0074a0001c0001t0002g0058others(5): Show | 8 | 130 | 0.0615 | -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 | a0001c0001t0001g0069a0001c0001t0001g0099a0001c0001t0002g0071others(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 | a0001c0001t0002g0074a0002c0003t0001g0102a0003c0020t0008g0066 | 3 | 174 | 0.0172 | -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 | a0001c0001t0011g0120a0001c0001t0014g0109a0001c0005t0002g0118others(3): Show | 6 | 174 | 0.0345 | -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 | a0001c0001t0002g0064a0001c0001t0002g0174a0001c0005t0005g0144others(3): Show | 6 | 174 | 0.0345 | -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 | a0001c0001t0002g0173a0001c0005t0002g0160a0001c0005t0011g0147others(2): Show | 5 | 174 | 0.0287 | -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 | a0001c0005t0002g0155a0002c0004t0001g0156a0002c0004t0001g0157others(1): Show | 4 | 174 | 0.0230 | -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 | a0001c0001t0011g0108a0001c0005t0005g0167 | 2 | 174 | 0.0115 | -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 | a0001c0001t0005g0079a0001c0014t0009g0117a0002c0003t0001g0130others(2): Show | 5 | 174 | 0.0287 | -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 | a0002c0001t0003g0303a0006c0009t0038g0083a0007c0012t0005g0262others(1): Show | 4 | 308 | 0.0130 | -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 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0062others(36): Show | 39 | 344 | 0.1134 | -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 | a0001c0001t0001g0026a0001c0001t0001g0037a0001c0001t0001g0039others(76): Show | 79 | 344 | 0.2297 | -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 | a0001c0001t0001g0013a0001c0013t0001g0002a0001c0013t0001g0022others(97): Show | 101 | 344 | 0.2936 | -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 | a0001c0003t0001g0092a0001c0016t0003g0109a0001c0016t0003g0111 | 3 | 344 | 0.0087 | -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(11): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0010a0001c0013others(9): Show | a0001c0007t0001a0001c0010t0001a0001c0013t0001others(9): Show | a0001c0007t0001g0046a0001c0010t0001g0150a0001c0013t0001g0050others(11): Show | 14 | 344 | 0.0407 | -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(337): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(109): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(140): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0013others(335): Show | 340 | 344 | 0.9884 | -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 | a0001c0003t0001g0014a0001c0003t0001g0095a0001c0007t0001g0046others(21): Show | 24 | 344 | 0.0698 | -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 | a0001c0001t0001g0098a0001c0001t0001g0138a0003c0002t0003g0159others(2): Show | 5 | 344 | 0.0145 | -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 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0203others(50): Show | 53 | 344 | 0.1541 | -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 |
a0001a0005a0010 | a0001c0001a0001c0042a0005c0005others(2): Show | a0001c0001t0002a0001c0042t0015a0005c0005t0007others(2): Show | a0001c0001t0002g0118a0001c0001t0002g0301a0001c0042t0015g0331others(5): Show | 8 | 344 | 0.0233 | -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 |
a0001a0013a0021 | a0001c0001a0013c0013a0021c0016 | a0001c0001t0001a0013c0013t0006a0021c0016t0014 | a0001c0001t0001g0011a0013c0013t0006g0155a0013c0013t0006g0212others(1): Show | 4 | 284 | 0.0141 | -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 | a0003c0003t0003g0084a0003c0014t0002g0069a0003c0014t0002g0094 | 3 | 284 | 0.0106 | -7 | c.145 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 21/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108526664 | TTTCTTTC | T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 269 | 0.0037 | -7 | c.82- others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108569673 | GTTTGTTT | G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 269 | 0.0037 | -7 | c.384 others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | INFO_REALIGN_3_PRIME | chrX | 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 | a0001c0001t0001g0020a0001c0001t0002g0012a0001c0009t0003g0036others(24): Show | 27 | 234 | 0.1154 | -7 | c.324 others(24): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 5/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108222209 | CAACACAG | C | intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0024 | a0002c0024t0008 | a0002c0024t0008g0035 | 1 | 234 | 0.0043 | -7 | c.145 others(22): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108292993 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02647.hp1 others(7): Show |
a0003a0005 | a0003c0004a0003c0018a0005c0008 | a0003c0004t0004a0003c0004t0005a0003c0018t0002others(1): Show | a0003c0004t0004g0001a0003c0004t0004g0002a0003c0004t0004g0054others(7): Show | 10 | 234 | 0.0427 | -7 | c.144 others(26): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108309800 | AAACACAC | A | intron_variant | MODIFIER | NA18969.hp1 NA18979.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0106a0002c0003t0001g0029 | 2 | 234 | 0.0086 | -7 | c.144 others(22): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108343161 | ATATAGTG | A | intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211 | 1 | 234 | 0.0043 | -7 | c.64- others(24): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | 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 | a0001c0001t0001g0033a0001c0001t0001g0088a0001c0001t0002g0245others(78): Show | 81 | 272 | 0.2978 | -7 | c.506 others(26): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134828859 | ACACACAC | A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0009a0001c0005t0022a0001c0007t0017others(1): Show | a0001c0001t0009g0233a0001c0005t0022g0085a0001c0007t0017g0241others(1): Show | 4 | 272 | 0.0147 | -7 | c.506 others(26): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |