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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL18A1_chr21_45400165_45518720 | 45496089 | T | TATGCCCT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18959.hp1 NA19007.hp1 |
a0001a0019 | a0001c0001a0001c0081a0019c0096 | a0001c0001t0001a0001c0081t0003a0019c0096t0015 | a0001c0001t0001g0187a0001c0081t0003g0154a0019c0096t0015g0045 | 3 | 292 | 0.0103 | 9 | c.250 others(26): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 29/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45505235 | A | AGGCCCCC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00639.hp2 HG01891.hp2 HG02451.hp1 others(11): Show |
a0004a0012a0014others(4): Show | a0004c0023a0004c0057a0004c0091others(9): Show | a0004c0023t0002a0004c0057t0002a0004c0091t0001others(9): Show | a0004c0023t0002g0138a0004c0023t0002g0163a0004c0057t0002g0035others(11): Show | 14 | 292 | 0.0480 | 9 | c.297 others(18): Show |
p.Pro others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 35/42 | 3045/5408 | 2979/4020 | 993/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
COL18A1_chr21_45400165_45518720 | 45505789 | C | CCCCCGCC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01192.hp1 others(6): Show |
a0001 | a0001c0006a0001c0017 | a0001c0006t0003a0001c0017t0002a0001c0017t0003 | a0001c0006t0003g0079a0001c0006t0003g0177a0001c0006t0003g0180others(6): Show | 9 | 292 | 0.0308 | 9 | c.308 others(24): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 36/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69920983 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02897.hp2 |
a0003 | a0003c0010 | a0003c0010t0013a0003c0010t0027 | a0003c0010t0013g0173a0003c0010t0027g0119 | 2 | 182 | 0.0110 | 9 | c.267 others(26): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69921434 | A | ATTCATAT others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0006a0002c0009 | a0002c0006t0003a0002c0009t0004 | a0002c0006t0003g0065a0002c0006t0003g0066a0002c0009t0004g0168 | 3 | 182 | 0.0165 | 9 | c.267 others(26): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69921445 | C | CATATATC others(2): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03195.hp2 |
a0002 | a0002c0004a0002c0009 | a0002c0004t0012a0002c0009t0004 | a0002c0004t0012g0159a0002c0009t0004g0128 | 2 | 182 | 0.0110 | 9 | c.267 others(26): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70016366 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 HG04184.hp1 others(1): Show |
a0002 | a0002c0003a0002c0004a0002c0006 | a0002c0003t0018a0002c0003t0020a0002c0004t0001others(1): Show | a0002c0003t0018g0014a0002c0003t0020g0071a0002c0004t0001g0068others(1): Show | 4 | 182 | 0.0220 | 9 | c.102 others(28): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | chr6 | TogoVar | ||||||
COL1A2_chr7_94389895_94436227 | 94407343 | C | CACTACTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(245): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0023others(138): Show | 248 | 438 | 0.5662 | 9 | c.595 others(24): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 12/51 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL22A1_chr8_138583235_138919041 | 138652735 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01106.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0003a0001c0001t0006a0001c0002t0001others(8): Show | a0001c0001t0003g0004a0001c0001t0006g0107a0001c0001t0006g0114others(9): Show | 12 | 158 | 0.0760 | 9 | c.333 others(28): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138726498 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG01361.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0015others(4): Show | a0001c0001t0003a0001c0002t0001a0001c0015t0002others(6): Show | a0001c0001t0003g0003a0001c0002t0001g0016a0001c0015t0002g0120others(6): Show | 9 | 158 | 0.0570 | 9 | c.214 others(28): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138902729 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02258.hp2 HG03688.hp2 others(2): Show |
a0001a0002a0003 | a0001c0014a0002c0007a0002c0011others(2): Show | a0001c0014t0004a0002c0007t0003a0002c0011t0005others(2): Show | a0001c0014t0004g0018a0002c0007t0003g0010a0002c0011t0005g0144others(2): Show | 5 | 158 | 0.0317 | 9 | c.-73 others(28): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178282052 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01167.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0002g0058a0001c0001t0004g0011others(15): Show | 18 | 236 | 0.0763 | 9 | c.441 others(26): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 5/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178403108 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03098.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0022 | a0001c0001t0004a0002c0003t0002a0002c0003t0003others(2): Show | a0001c0001t0004g0087a0002c0003t0002g0121a0002c0003t0003g0157others(2): Show | 5 | 236 | 0.0212 | 9 | c.362 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178562729 | C | CTGGTGGT others(2): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03540.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0097a0002c0003t0002g0140 | 2 | 236 | 0.0085 | 9 | c.295 others(26): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85740953 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp2 others(106): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0005a0001c0066others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(56): Show | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0174others(106): Show | 109 | 238 | 0.4580 | 9 | c.467 others(28): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 57/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85767103 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18971.hp2 NA18995.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0004c0002t0004 | a0001c0001t0001g0100a0001c0001t0001g0122a0001c0001t0001g0123others(1): Show | 4 | 238 | 0.0168 | 9 | c.437 others(28): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85969604 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01952.hp2 others(12): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0007a0004c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0007t0002others(4): Show | a0001c0001t0001g0043a0001c0001t0001g0116a0001c0001t0001g0118others(12): Show | 15 | 238 | 0.0630 | 9 | c.246 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 22/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86001079 | T | TGCCTTAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02615.hp1 others(3): Show |
a0004a0006a0023others(1): Show | a0004c0002a0006c0062a0023c0025others(1): Show | a0004c0002t0002a0004c0002t0004a0006c0062t0001others(2): Show | a0004c0002t0002g0209a0004c0002t0002g0214a0004c0002t0004g0215others(3): Show | 6 | 238 | 0.0252 | 9 | c.231 others(30): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108807839 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0016 | 2 | 130 | 0.0154 | 9 | c.*60 others(20): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 885 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108822043 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0092a0001c0001t0002g0075a0001c0001t0005g0077others(4): Show | 7 | 130 | 0.0539 | 9 | c.184 others(28): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 35/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108873522 | C | CTAGTAGT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00735.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0068a0001c0001t0001g0121a0001c0001t0002g0058others(16): Show | 19 | 130 | 0.1462 | 9 | c.102 others(28): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 19/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108960938 | G | GCAGAAAC others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0048a0001c0001t0001g0059a0001c0001t0001g0068others(30): Show | 33 | 130 | 0.2539 | 9 | c.492 others(28): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109218354 | G | GGTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0014a0001c0002t0001a0001c0003t0001 | a0001c0001t0014g0012a0001c0002t0001g0125a0001c0003t0001g0055 | 3 | 130 | 0.0231 | 9 | c.367 others(28): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101384230 | G | GTTTTTGT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0002a0001c0001t0009a0001c0005t0002others(1): Show | a0001c0001t0002g0151a0001c0001t0002g0154a0001c0001t0009g0152others(4): Show | 7 | 174 | 0.0402 | 9 | c.158 others(28): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101439553 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(18): Show | a0001c0001t0002g0125a0001c0001t0002g0132a0001c0001t0002g0133others(56): Show | 59 | 174 | 0.3391 | 9 | c.282 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG02257.hp1 others(2): Show |
a0001a0002a0005 | a0001c0005a0002c0004a0002c0007others(1): Show | a0001c0005t0002a0001c0005t0012a0002c0004t0001others(2): Show | a0001c0005t0002g0155a0001c0005t0012g0089a0002c0004t0001g0156others(2): Show | 5 | 174 | 0.0287 | 9 | c.386 others(28): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114182177 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(35): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0010a0001c0017others(29): Show | a0001c0002t0023a0001c0010t0016a0001c0017t0006others(34): Show | a0001c0002t0023g0043a0001c0010t0016g0245a0001c0010t0016g0246others(35): Show | 38 | 308 | 0.1234 | 9 | c.196 others(26): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 4/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114217424 | G | GCTGGCCA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02258.hp2 others(2): Show |
a0001a0009a0035 | a0001c0120a0001c0122a0009c0043others(1): Show | a0001c0120t0001a0001c0122t0014a0009c0043t0006others(1): Show | a0001c0120t0001g0041a0001c0122t0014g0208a0009c0043t0006g0044others(2): Show | 5 | 308 | 0.0162 | 9 | c.236 others(28): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 12/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7400975 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG03669.hp2 HG03942.hp1 |
a0001a0023 | a0001c0001a0023c0021 | a0001c0001t0001a0023c0021t0002 | a0001c0001t0001g0094a0023c0021t0002g0025 | 2 | 196 | 0.0102 | 9 | c.213 others(30): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7522806 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01169.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0051a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0051t0008others(5): Show | a0001c0001t0001g0048a0001c0001t0001g0056a0001c0001t0001g0060others(10): Show | 13 | 196 | 0.0663 | 9 | c.703 others(24): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 4/34 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47976292 | T | TTCCCAGG others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02145.hp2 others(10): Show |
a0001a0003a0010others(1): Show | a0001c0014a0003c0019a0003c0021others(3): Show | a0001c0014t0001a0003c0019t0001a0003c0021t0002others(3): Show | a0001c0014t0001g0043a0001c0014t0001g0191a0001c0014t0001g0220others(8): Show | 13 | 414 | 0.0314 | 9 | c.348 others(26): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 49/53 | chr12 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110145379 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG01081.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(18): Show | a0001c0001t0001g0125a0001c0001t0001g0155a0001c0003t0001g0074others(24): Show | 27 | 344 | 0.0785 | 9 | c.*49 others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253239 | A | ATATGTAC others(2): Show |
intron_variant | MODIFIER | NA18978.hp2 NA18982.hp2 NA19081.hp2 others(1): Show |
a0002a0003a0004 | a0002c0004a0002c0106a0003c0107others(1): Show | a0002c0004t0001a0002c0106t0001a0003c0107t0001others(1): Show | a0002c0004t0001g0250a0002c0106t0001g0242a0003c0107t0001g0244others(1): Show | 4 | 344 | 0.0116 | 9 | c.85- others(26): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253259 | A | ATATGTAC others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 NA18963.hp2 others(1): Show |
a0001a0002a0003 | a0001c0007a0002c0011a0002c0018others(1): Show | a0001c0007t0001a0002c0011t0001a0002c0018t0001others(1): Show | a0001c0007t0001g0070a0002c0011t0001g0184a0002c0018t0001g0197others(1): Show | 4 | 344 | 0.0116 | 9 | c.85- others(26): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110260159 | T | TTTATAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0030a0002c0048 | a0002c0030t0008a0002c0048t0001 | a0002c0030t0008g0189a0002c0048t0001g0186a0002c0048t0001g0187 | 3 | 344 | 0.0087 | 9 | c.85- others(26): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110261035 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 HG02897.hp1 others(3): Show |
a0001a0002a0003 | a0001c0016a0001c0020a0002c0015others(3): Show | a0001c0016t0003a0001c0020t0001a0002c0015t0001others(3): Show | a0001c0016t0003g0111a0001c0020t0001g0112a0002c0015t0001g0241others(3): Show | 6 | 344 | 0.0174 | 9 | c.85- others(26): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110261036 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01167.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0010others(18): Show | a0001c0001t0001a0001c0006t0001a0001c0010t0001others(19): Show | a0001c0001t0001g0032a0001c0001t0001g0125a0001c0006t0001g0087others(24): Show | 27 | 344 | 0.0785 | 9 | c.85- others(26): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110440781 | C | CCGGCAGG others(2): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19030.hp1 NA21309.hp2 |
a0001a0002a0018 | a0001c0114a0002c0091a0018c0049 | a0001c0114t0010a0002c0091t0001a0018c0049t0031 | a0001c0114t0010g0030a0002c0091t0001g0210a0018c0049t0031g0045 | 3 | 372 | 0.0081 | 9 | c.957 others(24): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 16/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193597 | A | AGCTACTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01256.hp2 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0004c0003others(1): Show | a0001c0001t0001a0003c0002t0003a0003c0002t0006others(2): Show | a0001c0001t0001g0098a0001c0001t0001g0138a0001c0001t0001g0161others(6): Show | 9 | 344 | 0.0262 | 9 | c.87+ others(26): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227194010 | A | AATGAGAG others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02258.hp1 others(2): Show |
a0003a0006 | a0003c0011a0006c0010 | a0003c0011t0001a0003c0011t0003a0003c0011t0010others(1): Show | a0003c0011t0001g0002a0003c0011t0003g0010a0003c0011t0003g0337others(2): Show | 5 | 344 | 0.0145 | 9 | c.87+ others(26): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227222122 | C | CTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02015.hp2 HG03209.hp1 others(12): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0002a0004c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(5): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0152others(12): Show | 15 | 344 | 0.0436 | 9 | c.88- others(26): 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(2): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18951.hp1 NA18969.hp2 others(4): Show |
a0001a0007a0009 | a0001c0001a0007c0006a0009c0008 | a0001c0001t0001a0007c0006t0005a0009c0008t0001others(1): Show | a0001c0001t0001g0147a0007c0006t0005g0327a0007c0006t0005g0328others(4): Show | 7 | 344 | 0.0204 | 9 | c.546 others(24): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227020873 | C | CTTCTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(103): Show |
a0002a0004a0005others(16): Show | a0002c0002a0002c0021a0002c0058others(28): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(41): Show | a0002c0002t0002g0008a0002c0002t0002g0009a0002c0002t0002g0014others(103): Show | 106 | 284 | 0.3732 | 9 | c.421 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 44/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227045826 | A | ATTTAGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp1 others(57): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0021a0002c0058others(9): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(14): Show | a0002c0002t0002g0008a0002c0002t0002g0014a0002c0002t0002g0033others(57): Show | 60 | 284 | 0.2113 | 9 | c.328 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227060101 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02056.hp1 others(10): Show |
a0003a0012a0014others(3): Show | a0003c0003a0003c0014a0003c0027others(5): Show | a0003c0003t0003a0003c0014t0002a0003c0027t0003others(5): Show | a0003c0003t0003g0076a0003c0003t0003g0099a0003c0003t0003g0128others(10): Show | 13 | 284 | 0.0458 | 9 | c.216 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 27/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227138133 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02559.hp1 others(7): Show |
a0006a0007a0008others(3): Show | a0006c0005a0007c0006a0008c0008others(3): Show | a0006c0005t0004a0007c0006t0004a0008c0008t0009others(3): Show | a0006c0005t0004g0191a0006c0005t0004g0193a0007c0006t0004g0171others(7): Show | 10 | 284 | 0.0352 | 9 | c.192 others(26): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 4/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18957.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0065 | 2 | 269 | 0.0074 | 9 | c.81+ others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 269 | 0.0037 | 9 | c.81+ others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108638373 | C | CTAAATCA others(2): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19057.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0018 | 2 | 269 | 0.0074 | 9 | c.324 others(30): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A6_chrX_108150614_108443422 | 108377941 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0036 | 1 | 234 | 0.0043 | 9 | c.63+ others(26): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar |