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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL13A1_chr10_69796906_69964144 | 69858115 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00642.hp2 others(39): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0021 others(39): Show |
42 | 88 | 0.4773 | 9 | c.365 others(26): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120224023 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01106.hp2 others(55): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(55): Show |
58 | 101 | 0.5743 | 9 | c.173 others(28): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707385 | T | TTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01070.hp1 others(19): Show |
a0001a0002a0006others(2): Show | a0001c0020a0002c0002a0002c0004others(4): Show | a0001c0020t0004a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0020t0004g0036 a0002c0002t0001g0151 a0002c0002t0001g0169 others(19): Show |
22 | 220 | 0.1000 | 9 | c.-35 others(20): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45485149 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG02004.hp2 others(10): Show |
a0001a0005 | a0001c0004a0001c0007a0001c0025others(3): Show | a0001c0004t0001a0001c0004t0003a0001c0007t0002others(4): Show | a0001c0004t0001g0066 a0001c0004t0001g0079 a0001c0004t0001g0161 others(10): Show |
13 | 130 | 0.1000 | 9 | c.170 others(28): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45496089 | T | TATGCCCT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18959.hp1 NA19007.hp1 |
a0001a0020 | a0001c0001a0001c0078a0020c0093 | a0001c0001t0001a0001c0078t0003a0020c0093t0015 | a0001c0001t0001g0170 a0001c0078t0003g0141 a0020c0093t0015g0173 |
3 | 276 | 0.0109 | 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 |
a0003a0012a0013others(4): Show | a0003c0023a0003c0057a0003c0088others(9): Show | a0003c0023t0002a0003c0057t0002a0003c0088t0001others(9): Show | a0003c0023t0002g0118 a0003c0023t0002g0131 a0003c0057t0002g0028 others(11): Show |
14 | 288 | 0.0486 | 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 | a0001c0006t0003g0057 a0001c0006t0003g0153 a0001c0006t0003g0160 others(6): Show |
9 | 290 | 0.0310 | 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 | a0003c0010t0013g0173 a0003c0010t0027g0119 |
2 | 167 | 0.0120 | 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 | a0002c0006t0003g0065 a0002c0006t0003g0066 a0002c0009t0004g0168 |
3 | 180 | 0.0167 | 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 | a0002c0004t0012g0159 a0002c0009t0004g0128 |
2 | 166 | 0.0120 | 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 | a0002c0003t0018g0014 a0002c0003t0020g0071 a0002c0004t0001g0068 others(1): Show |
4 | 139 | 0.0288 | 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 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0023 others(138): Show |
248 | 326 | 0.7607 | 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 | a0001c0001t0003g0003 a0001c0001t0006g0108 a0001c0001t0006g0115 others(9): Show |
12 | 46 | 0.2609 | 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 | a0001c0001t0003g0002 a0001c0002t0001g0017 a0001c0015t0002g0116 others(6): Show |
9 | 73 | 0.1233 | 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 | a0001c0014t0004g0019 a0002c0007t0003g0010 a0002c0011t0005g0146 others(2): Show |
5 | 156 | 0.0321 | 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 | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0002g0058 a0001c0001t0004g0011 others(15): Show |
18 | 154 | 0.1169 | 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 | a0001c0001a0002c0003a0002c0018 | a0001c0001t0004a0002c0003t0002a0002c0003t0003others(2): Show | a0001c0001t0004g0089 a0002c0003t0002g0121 a0002c0003t0003g0157 others(2): Show |
5 | 173 | 0.0289 | 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 | a0002c0003t0002g0076 a0002c0003t0002g0140 |
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(105): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0005a0001c0041others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(56): Show | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0175 others(105): Show |
108 | 139 | 0.7770 | 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 | a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show |
4 | 55 | 0.0727 | 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 |
a0001a0002a0004others(3): Show | a0001c0001a0002c0007a0004c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0007t0002others(4): Show | a0001c0001t0001g0043 a0001c0001t0001g0116 a0001c0001t0001g0118 others(12): Show |
15 | 92 | 0.1630 | 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 |
a0004a0006a0018others(1): Show | a0004c0002a0006c0062a0018c0025others(1): Show | a0004c0002t0002a0004c0002t0004a0006c0062t0001others(2): Show | a0004c0002t0002g0209 a0004c0002t0002g0214 a0004c0002t0004g0215 others(3): Show |
6 | 236 | 0.0254 | 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 | a0001c0001t0003g0005 a0001c0001t0003g0015 |
2 | 84 | 0.0238 | 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 | a0001c0001t0001g0095 a0001c0001t0002g0075 a0001c0001t0005g0076 others(4): Show |
7 | 44 | 0.1591 | 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 | a0001c0001t0001g0068 a0001c0001t0001g0121 a0001c0001t0002g0058 others(16): Show |
19 | 24 | 0.7917 | 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 | a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0068 others(30): Show |
33 | 130 | 0.2538 | 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 | a0001c0001t0014g0013 a0001c0002t0001g0125 a0001c0003t0001g0054 |
3 | 108 | 0.0278 | 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 | a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0009g0167 others(4): Show |
7 | 119 | 0.0588 | 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 | a0001c0001t0002g0135 a0001c0001t0002g0143 a0001c0001t0002g0153 others(56): Show |
59 | 79 | 0.7468 | 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 | a0001c0005t0002g0170 a0001c0005t0012g0097 a0002c0004t0001g0171 others(2): Show |
5 | 106 | 0.0472 | 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 | a0001c0002t0023g0037 a0001c0010t0016g0244 a0001c0010t0016g0245 others(35): Show |
38 | 278 | 0.1367 | 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 |
a0001a0010a0027 | a0001c0120a0001c0122a0010c0043others(1): Show | a0001c0120t0001a0001c0122t0014a0010c0043t0006others(1): Show | a0001c0120t0001g0034 a0001c0122t0014g0215 a0010c0043t0006g0038 others(2): Show |
5 | 306 | 0.0163 | 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 |
a0001a0032 | a0001c0001a0032c0021 | a0001c0001t0002a0032c0021t0001 | a0001c0001t0002g0093 a0032c0021t0001g0025 |
2 | 25 | 0.0800 | 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 | a0001c0001t0001a0001c0001t0002a0001c0051t0007others(5): Show | a0001c0001t0001g0171 a0001c0001t0002g0048 a0001c0001t0002g0056 others(10): Show |
13 | 22 | 0.5909 | 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 |
a0001a0003a0011others(1): Show | a0001c0014a0003c0019a0003c0021others(3): Show | a0001c0014t0001a0003c0019t0001a0003c0021t0002others(3): Show | a0001c0014t0001g0043 a0001c0014t0001g0190 a0001c0014t0001g0219 others(8): Show |
13 | 412 | 0.0316 | 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 | a0001c0001t0001g0123 a0001c0001t0001g0153 a0001c0003t0001g0076 others(24): Show |
27 | 106 | 0.2547 | 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 | a0002c0004t0001g0248 a0002c0106t0001g0240 a0003c0107t0001g0242 others(1): Show |
4 | 302 | 0.0132 | 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 | a0001c0007t0001g0072 a0002c0011t0001g0182 a0002c0018t0001g0195 others(1): Show |
4 | 332 | 0.0120 | 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 | a0002c0030t0008g0187 a0002c0048t0001g0184 a0002c0048t0001g0185 |
3 | 342 | 0.0088 | 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 | a0001c0016t0003g0109 a0001c0020t0001g0110 a0002c0015t0001g0239 others(3): Show |
6 | 214 | 0.0280 | 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 | a0001c0001t0001g0034 a0001c0001t0001g0123 a0001c0006t0001g0087 others(24): Show |
27 | 31 | 0.8710 | 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 |
a0001a0002a0026 | a0001c0114a0002c0091a0026c0049 | a0001c0114t0010a0002c0091t0001a0026c0049t0031 | a0001c0114t0010g0030 a0002c0091t0001g0210 a0026c0049t0031g0045 |
3 | 370 | 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 | a0001c0001t0001g0152 a0001c0001t0001g0193 a0001c0001t0001g0221 others(6): Show |
9 | 342 | 0.0263 | 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 | a0003c0011t0001g0002 a0003c0011t0003g0010 a0003c0011t0003g0333 others(2): Show |
5 | 342 | 0.0146 | 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 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 others(12): Show |
15 | 281 | 0.0534 | 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 | a0001c0001t0001g0204 a0007c0006t0005g0327 a0007c0006t0005g0328 others(4): Show |
7 | 62 | 0.1129 | 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 | a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0014 others(103): Show |
106 | 257 | 0.4125 | 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 | a0002c0002t0002g0008 a0002c0002t0002g0014 a0002c0002t0002g0033 others(57): Show |
60 | 245 | 0.2449 | 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 |
a0003a0011a0013others(3): Show | a0003c0003a0003c0014a0003c0027others(5): Show | a0003c0003t0003a0003c0014t0002a0003c0027t0003others(5): Show | a0003c0003t0003g0076 a0003c0003t0003g0100 a0003c0003t0003g0129 others(10): Show |
13 | 94 | 0.1383 | 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 | a0006c0005t0004g0193 a0006c0005t0004g0195 a0007c0006t0004g0172 others(7): Show |
10 | 165 | 0.0606 | 9 | c.192 others(26): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 4/47 | chr2 | TogoVar |