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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019 | 1 | 32 | 0.0313 | 30 | c.143 others(49): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636480 | A | AGAAAGGA others(23): Show |
intron_variant | MODIFIER | HG03492.hp2 NA19060.hp1 |
a0002 | a0002c0005a0002c0009 | a0002c0005t0003a0002c0009t0015 | a0002c0005t0003g0007 a0002c0009t0015g0145 |
2 | 113 | 0.0177 | 30 | c.355 others(47): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636532 | A | AAAGGAAA others(23): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG02717.hp2 others(6): Show |
a0001a0002a0006 | a0001c0010a0001c0012a0001c0017others(4): Show | a0001c0010t0001a0001c0012t0001a0001c0017t0005others(5): Show | a0001c0010t0001g0031 a0001c0012t0001g0038 a0001c0017t0005g0148 others(6): Show |
9 | 58 | 0.1552 | 30 | c.355 others(47): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636532 | A | AAAGGAAA others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01261.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0002c0003t0003others(2): Show | a0001c0001t0001g0057 a0001c0002t0003g0009 a0002c0003t0003g0004 others(3): Show |
6 | 55 | 0.1091 | 30 | c.355 others(47): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258236 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0066 | 1 | 134 | 0.0075 | 30 | c.730 others(45): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 138 | 0.0072 | 30 | c.730 others(45): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178448110 | A | ACAGTCCG others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01167.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0001 | a0001c0001t0004g0021 a0001c0005t0001g0106 |
2 | 118 | 0.0169 | 30 | c.361 others(51): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178448120 | T | TTGTTCTG others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG01433.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0005t0005others(6): Show | a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0005g0075 others(8): Show |
11 | 236 | 0.0466 | 30 | c.361 others(51): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178548012 | C | CACACACC others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0146 | 1 | 88 | 0.0114 | 30 | c.361 others(49): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178556625 | T | TTAAAATA others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 NA18973.hp2 others(1): Show |
a0001a0003a0009 | a0001c0001a0003c0004a0003c0007others(1): Show | a0001c0001t0003a0003c0004t0002a0003c0007t0001others(1): Show | a0001c0001t0003g0070 a0003c0004t0002g0163 a0003c0007t0001g0013 others(1): Show |
4 | 130 | 0.0308 | 30 | c.361 others(47): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03540.hp2 |
a0001a0009 | a0001c0005a0009c0044 | a0001c0005t0003a0009c0044t0011 | a0001c0005t0003g0218 a0009c0044t0011g0110 |
2 | 31 | 0.0645 | 30 | c.277 others(47): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18951.hp2 |
a0001a0008 | a0001c0001a0008c0006 | a0001c0001t0003a0008c0006t0001 | a0001c0001t0003g0157 a0008c0006t0001g0050 |
2 | 122 | 0.0164 | 30 | c.231 others(49): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108835861 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 19 | 0.0526 | 30 | c.165 others(49): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108961568 | C | CCTGTTCT others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG02896.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0010a0001c0003t0023 | a0001c0002t0003g0010 a0001c0002t0010g0030 a0001c0003t0023g0128 |
3 | 44 | 0.0682 | 30 | c.492 others(49): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109096499 | C | CAGGCTAT others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01175.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0059 a0001c0001t0002g0055 a0001c0001t0002g0058 others(21): Show |
24 | 130 | 0.1846 | 30 | c.368 others(49): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109250369 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 27 | 0.0370 | 30 | c.367 others(49): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101385367 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0002c0003t0001 | a0001c0001t0014g0157 a0002c0003t0001g0155 |
2 | 129 | 0.0155 | 30 | c.158 others(49): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101494127 | C | CGTTTTAT others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03139.hp1 HG03492.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0006a0002c0004t0001a0002c0004t0024 | a0001c0002t0006g0040 a0002c0004t0001g0140 a0002c0004t0024g0099 |
3 | 143 | 0.0210 | 30 | c.386 others(49): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101494127 | C | CGTTTTGT others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 NA20300.hp1 |
a0001a0003 | a0001c0001a0003c0018 | a0001c0001t0011a0003c0018t0019 | a0001c0001t0011g0107 a0003c0018t0019g0004 |
2 | 142 | 0.0141 | 30 | c.386 others(49): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7374038 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0031 | a0031c0040 | a0031c0040t0001 | a0031c0040t0001g0040 | 1 | 56 | 0.0179 | 30 | c.236 others(47): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 188972936 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0264 a0001c0001t0009g0118 |
2 | 47 | 0.0426 | 30 | c.-15 others(41): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1436 | chr2 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 188997014 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02165.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0059 a0001c0001t0001g0140 others(4): Show |
7 | 44 | 0.1591 | 30 | c.176 others(45): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 24/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355484 | T | TGGGAGAG others(23): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0004 | a0004c0012 | a0004c0012t0004 | a0004c0012t0004g0309 | 1 | 362 | 0.0028 | 30 | c.100 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355533 | T | TAGCTCAC others(23): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0016 | a0001c0016t0007 | a0001c0016t0007g0235 | 1 | 366 | 0.0027 | 30 | c.100 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355843 | G | GTGGAGGG others(23): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03834.hp2 HG04184.hp1 |
a0002 | a0002c0006a0002c0019 | a0002c0006t0006a0002c0019t0002a0002c0019t0037 | a0002c0006t0006g0066 a0002c0019t0002g0304 a0002c0019t0037g0026 |
3 | 239 | 0.0126 | 30 | c.100 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110480906 | C | CTGGAGAC others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0024 | 1 | 370 | 0.0027 | 30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481018 | T | TTCCGTTG others(23): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01516.hp1 HG01517.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0006a0002c0006t0001 | a0001c0001t0006g0074 a0001c0001t0006g0075 a0002c0006t0001g0258 |
3 | 323 | 0.0093 | 30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481082 | G | GTTGCTGG others(23): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01934.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0005a0001c0001t0006a0001c0003t0001others(18): Show | a0001c0001t0005g0105 a0001c0001t0006g0047 a0001c0003t0001g0228 others(21): Show |
25 | 277 | 0.0903 | 30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481168 | C | CTCCGTTG others(23): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19086.hp1 |
a0001a0006 | a0001c0002a0006c0027 | a0001c0002t0004a0006c0027t0012 | a0001c0002t0004g0292 a0006c0027t0012g0281 |
2 | 240 | 0.0083 | 30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481310 | T | TTCTGTCC others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0317 | 1 | 341 | 0.0029 | 30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481322 | A | ATTGCTGG others(23): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0055 | a0002c0055t0016 | a0002c0055t0016g0250 | 1 | 63 | 0.0159 | 30 | c.275 others(48): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481340 | T | TTCTGTCC others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01069.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0003a0001c0001t0006a0001c0004t0001others(8): Show | a0001c0001t0003g0091 a0001c0001t0006g0074 a0001c0001t0006g0075 others(9): Show |
12 | 216 | 0.0556 | 30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481352 | G | GTTGCTGG others(23): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03654.hp1 |
a0001a0002 | a0001c0037a0002c0006 | a0001c0037t0020a0002c0006t0006 | a0001c0037t0020g0069 a0002c0006t0006g0070 |
2 | 324 | 0.0062 | 30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481378 | C | CTCCGTTG others(23): Show |
intron_variant | MODIFIER | HG00738.hp1 NA19030.hp2 |
a0001a0003 | a0001c0014a0003c0067 | a0001c0014t0026a0003c0067t0050 | a0001c0014t0026g0156 a0003c0067t0050g0151 |
2 | 208 | 0.0096 | 30 | c.275 others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481408 | C | CTCCGTTG others(23): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02015.hp2 HG02738.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0003a0001c0008a0001c0011others(3): Show | a0001c0003t0002a0001c0008t0001a0001c0011t0004others(3): Show | a0001c0003t0002g0293 a0001c0008t0001g0202 a0001c0011t0004g0312 others(4): Show |
7 | 140 | 0.0500 | 30 | c.275 others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481430 | T | TTCTGTCC others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0065 | a0002c0065t0014 | a0002c0065t0014g0028 | 1 | 229 | 0.0044 | 30 | c.275 others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481472 | G | GTTGCTGG others(23): Show |
intron_variant | MODIFIER | HG01074.hp1 NA21309.hp2 |
a0003a0026 | a0003c0105a0026c0049 | a0003c0105t0011a0026c0049t0031 | a0003c0105t0011g0168 a0026c0049t0031g0045 |
2 | 159 | 0.0126 | 30 | c.275 others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481522 | C | CTGTCCTT others(23): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02738.hp1 HG03516.hp1 others(2): Show |
a0001a0004 | a0001c0003a0001c0008a0001c0011others(1): Show | a0001c0003t0002a0001c0008t0001a0001c0011t0004others(1): Show | a0001c0003t0002g0293 a0001c0008t0001g0202 a0001c0011t0004g0312 others(2): Show |
5 | 271 | 0.0185 | 30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481937 | C | CTCTGTCC others(23): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02300.hp2 others(1): Show |
a0001a0011 | a0001c0002a0001c0014a0011c0036 | a0001c0002t0005a0001c0014t0001a0011c0036t0021 | a0001c0002t0005g0158 a0001c0014t0001g0194 a0011c0036t0021g0320 others(1): Show |
4 | 159 | 0.0252 | 30 | c.275 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110493051 | A | AGGTGAAA others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0067 | 1 | 102 | 0.0098 | 30 | c.356 others(46): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110509245 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 |
a0001 | a0001c0003a0001c0014 | a0001c0003t0002a0001c0014t0006 | a0001c0003t0002g0267 a0001c0014t0006g0095 |
2 | 160 | 0.0125 | 30 | c.488 others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202982 | C | CATATATG others(23): Show |
intron_variant | MODIFIER | HG03017.hp1 HG04115.hp2 |
a0009a0029 | a0009c0008a0029c0046 | a0009c0008t0001a0029c0046t0001 | a0009c0008t0001g0253 a0029c0046t0001g0312 |
2 | 117 | 0.0171 | 30 | c.88- others(47): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203112 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0275 | 1 | 195 | 0.0051 | 30 | c.88- others(47): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203288 | C | CCCATATG others(23): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03704.hp2 NA18954.hp2 others(1): Show |
a0001a0002a0009 | a0001c0001a0002c0004a0009c0008 | a0001c0001t0001a0002c0004t0003a0009c0008t0001 | a0001c0001t0001g0105 a0001c0001t0001g0186 a0002c0004t0003g0179 others(1): Show |
4 | 319 | 0.0125 | 30 | c.88- others(47): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203316 | C | CCCATATG others(23): Show |
intron_variant | MODIFIER | NA19077.hp1 NA19091.hp1 |
a0007a0009 | a0007c0006a0009c0008 | a0007c0006t0005a0009c0008t0001 | a0007c0006t0005g0206 a0009c0008t0001g0265 |
2 | 311 | 0.0064 | 30 | c.88- others(47): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203489 | G | GTATATGT others(23): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0007 | a0007c0006 | a0007c0006t0005 | a0007c0006t0005g0188 | 1 | 76 | 0.0132 | 30 | c.88- others(47): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203489 | G | GTATATGT others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0007 | a0007c0006 | a0007c0006t0005 | a0007c0006t0005g0235 | 1 | 76 | 0.0132 | 30 | c.88- others(47): 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(23): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 56 | 0.0179 | 30 | c.546 others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 56 | 0.0179 | 30 | c.546 others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0005g0050 |
3 | 58 | 0.0517 | 30 | c.546 others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |