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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL12A1_chr6_75079326_75211053 | 75140655 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03492.hp2 HG04199.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0002 | a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0174 others(2): Show |
5 | 140 | 0.0357 | 19 | c.495 others(38): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 27/65 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208152 | C | CTCTCTCT others(12): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0041 | 1 | 198 | 0.0051 | 19 | c.-24 others(30): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2100 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208158 | C | CTCTCTCT others(12): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 185 | 0.0054 | 19 | c.-24 others(30): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2106 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69889308 | G | GGGGGGCA others(12): Show |
intron_variant | MODIFIER | HG03710.hp2 HG03834.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0093 a0001c0002t0001g0173 |
2 | 208 | 0.0096 | 19 | c.577 others(32): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69933135 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 10 | 0.1000 | 19 | c.172 others(36): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 31/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99024268 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02040.hp1 HG03834.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0002a0001c0013t0001a0002c0002t0001others(3): Show | a0001c0001t0002g0070 a0001c0013t0001g0064 a0001c0013t0001g0068 others(8): Show |
11 | 245 | 0.0449 | 19 | c.185 others(36): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 14/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99066599 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18984.hp1 |
a0001a0005 | a0001c0013a0005c0059 | a0001c0013t0001a0005c0059t0001 | a0001c0013t0001g0015 a0005c0059t0001g0112 |
2 | 105 | 0.0190 | 19 | c.365 others(36): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707385 | T | TTTTCTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0209 a0001c0003t0002g0221 a0002c0002t0001g0144 others(12): Show |
16 | 214 | 0.0748 | 19 | c.-35 others(30): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45498370 | C | CGGTCCCC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01192.hp2 others(2): Show |
a0001a0015 | a0001c0013a0015c0068 | a0001c0013t0002a0001c0013t0014a0015c0068t0002 | a0001c0013t0002g0102 a0001c0013t0002g0208 a0001c0013t0002g0209 others(2): Show |
5 | 289 | 0.0173 | 19 | c.268 others(36): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921058 | T | TATATATT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00741.hp2 others(48): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0004others(8): Show | a0001c0001t0006a0002c0003t0002a0002c0003t0012others(22): Show | a0001c0001t0006g0107 a0002c0003t0002g0018 a0002c0003t0002g0026 others(48): Show |
51 | 158 | 0.3228 | 19 | c.267 others(36): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921058 | T | TATATATT others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01106.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0022a0001c0002t0001others(14): Show | a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0180 others(19): Show |
22 | 129 | 0.1705 | 19 | c.267 others(36): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL1A2_chr7_94389895_94436227 | 94423569 | C | CTTTTTGT others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0137 | 1 | 434 | 0.0023 | 19 | c.256 others(36): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 40/51 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138809528 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01099.hp1 others(30): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0006a0001c0008others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(24): Show | a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0125 others(30): Show |
33 | 83 | 0.3976 | 19 | c.145 others(38): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 9/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138902737 | T | TAATATAT others(12): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0060 | a0002c0060t0004 | a0002c0060t0004g0107 | 1 | 84 | 0.0119 | 19 | c.-73 others(38): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178403108 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0010 | 1 | 169 | 0.0059 | 19 | c.362 others(38): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178524699 | G | GCTCTTGC others(12): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 236 | 0.0042 | 19 | c.361 others(38): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01496.hp2 HG02129.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0007a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0007t0003others(2): Show | a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0002g0161 others(3): Show |
6 | 35 | 0.1714 | 19 | c.277 others(36): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86108620 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0151 | 1 | 11 | 0.0909 | 19 | c.159 others(38): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108807833 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 68 | 0.0147 | 19 | c.*60 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 891 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108807839 | T | TATATATA others(12): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 NA18998.hp1 NA19086.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0094 a0001c0001t0002g0116 a0001c0009t0002g0103 |
3 | 85 | 0.0353 | 19 | c.*60 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 885 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108822043 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0080 a0001c0001t0016g0009 |
2 | 39 | 0.0513 | 19 | c.184 others(38): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 35/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108835861 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03492.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0003 | a0001c0002t0001g0125 a0001c0010t0003g0016 |
2 | 20 | 0.1000 | 19 | c.165 others(38): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108966926 | A | AAGAAAGA others(12): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 97 | 0.0103 | 19 | c.492 others(36): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109000743 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 119 | 0.0084 | 19 | c.438 others(36): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109218356 | G | GGTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0058 a0001c0001t0003g0032 a0001c0002t0001g0066 |
3 | 115 | 0.0261 | 19 | c.367 others(38): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109218357 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0037 a0001c0002t0003g0010 |
2 | 42 | 0.0476 | 19 | c.367 others(38): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109218361 | T | TTTTTTTG others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0040 | 1 | 130 | 0.0077 | 19 | c.367 others(38): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101386273 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0009 | 1 | 156 | 0.0064 | 19 | c.158 others(38): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101463771 | T | TTCTTTCT others(12): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0020 | a0001c0001t0002g0076 a0001c0002t0020g0001 |
2 | 116 | 0.0172 | 19 | c.385 others(38): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101463774 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0088 | 1 | 172 | 0.0058 | 19 | c.385 others(38): 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(12): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0179 | 1 | 56 | 0.0179 | 19 | c.236 others(36): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7474056 | C | CTCTCTAT others(12): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0037 a0002c0004t0001g0041 |
2 | 194 | 0.0103 | 19 | c.130 others(36): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 15/34 | chr7 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 188972936 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 46 | 0.0217 | 19 | c.-15 others(30): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1436 | chr2 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110145379 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0024 | a0002c0024t0002 | a0002c0024t0002g0275 | 1 | 80 | 0.0125 | 19 | c.*49 others(30): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110169918 | A | AAGGAAGG others(12): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0044 | a0002c0044t0001 | a0002c0044t0001g0207 | 1 | 342 | 0.0029 | 19 | c.374 others(36): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 42/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110198076 | G | GTGTGTGT others(12): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0231 | 1 | 275 | 0.0036 | 19 | c.128 others(36): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 21/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110222771 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0193 | 1 | 77 | 0.0130 | 19 | c.145 others(36): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255617 | G | GGGGAAGG others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0039 | a0002c0039t0002 | a0002c0039t0002g0269 | 1 | 340 | 0.0029 | 19 | c.85- others(36): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255645 | C | CAGGCAGG others(12): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0098 | a0003c0098t0003 | a0003c0098t0003g0204 | 1 | 311 | 0.0032 | 19 | c.85- others(36): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255746 | A | AAGGGGGA others(12): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0091 | 1 | 342 | 0.0029 | 19 | c.85- others(36): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255806 | A | AAGGGGGA others(12): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 298 | 0.0034 | 19 | c.85- others(36): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255826 | A | AAGGGGGA others(12): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02257.hp2 HG02809.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(3): Show | a0001c0001t0001g0107 a0001c0003t0001g0094 a0001c0007t0001g0151 others(3): Show |
6 | 299 | 0.0201 | 19 | c.85- others(36): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110351325 | T | TGGGTCTC others(12): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0330 | 1 | 370 | 0.0027 | 19 | c.100 others(36): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0095 | 1 | 56 | 0.0179 | 19 | c.546 others(34): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATTT others(12): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18954.hp1 NA18980.hp2 others(1): Show |
a0003a0006 | a0003c0002a0006c0010 | a0003c0002t0001a0003c0002t0003a0006c0010t0006 | a0003c0002t0001g0229 a0003c0002t0003g0141 a0003c0002t0003g0313 others(1): Show |
4 | 59 | 0.0678 | 19 | c.546 others(34): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATTTTT others(12): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0096 | 1 | 56 | 0.0179 | 19 | c.546 others(34): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227302677 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 a0001c0001t0001g0274 |
2 | 26 | 0.0769 | 19 | c.388 others(36): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01255.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0112 a0001c0001t0001g0262 a0001c0001t0009g0190 |
3 | 101 | 0.0297 | 19 | c.81+ others(36): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 99 | 0.0101 | 19 | c.81+ others(36): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108243742 | G | GATGCATC others(12): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03486.hp2 HG03540.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0005 a0005c0006t0001g0006 a0005c0006t0001g0007 |
3 | 232 | 0.0129 | 19 | c.145 others(38): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar |