regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL21A1_chr6_56051590_56252580 | 56098172 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp2 others(15): Show |
a0001a0004a0005others(2): Show | a0001c0007a0004c0004a0004c0016others(3): Show | a0001c0007t0002a0001c0007t0004a0004c0004t0002others(6): Show | a0001c0007t0002g0261a0001c0007t0002g0262a0001c0007t0004g0065others(15): Show | 18 | 264 | 0.0682 | 22 | c.181 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098174 | T | TATATAAA others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01168.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0198others(11): Show | 14 | 264 | 0.0530 | 22 | c.181 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098658 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 264 | 0.0038 | 22 | c.181 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56121560 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03704.hp1 HG03834.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0248a0001c0002t0002g0249 | 2 | 264 | 0.0076 | 22 | c.175 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02257.hp1 HG02647.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0018a0001c0024others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0102a0001c0001t0001g0146a0001c0001t0003g0029others(7): Show | 10 | 264 | 0.0379 | 22 | c.143 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02886.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0082a0001c0002t0001g0049a0001c0002t0005g0141others(1): Show | 4 | 158 | 0.0253 | 22 | c.318 others(39): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 236 | 0.0042 | 22 | c.105 others(39): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0060 | 1 | 236 | 0.0042 | 22 | c.105 others(39): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0099a0002c0003t0004g0100 | 2 | 236 | 0.0085 | 22 | c.730 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 1 | 236 | 0.0042 | 22 | c.730 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAAAGA others(15): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0006 | a0006c0017 | a0006c0017t0006 | a0006c0017t0006g0009 | 1 | 238 | 0.0042 | 22 | c.395 others(43): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0060 | 1 | 238 | 0.0042 | 22 | c.277 others(39): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86011018 | T | TGAGGACA others(15): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0187 | 1 | 238 | 0.0042 | 22 | c.231 others(41): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108835861 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02965.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0058a0001c0001t0002g0088a0001c0001t0004g0007 | 3 | 130 | 0.0231 | 22 | c.165 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108999209 | C | CTATCCAT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(92): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0001g0059others(92): Show | 95 | 130 | 0.7308 | 22 | c.438 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109019375 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01346.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0023 | a0001c0003t0008g0036a0001c0003t0023g0127 | 2 | 130 | 0.0154 | 22 | c.421 others(39): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109250369 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01258.hp2 HG01884.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0001g0121a0001c0001t0011g0044a0001c0001t0012g0106others(4): Show | 7 | 130 | 0.0539 | 22 | c.367 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109254469 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0022 | a0001c0001t0002g0071a0001c0002t0001g0038a0001c0002t0001g0093others(1): Show | 4 | 130 | 0.0308 | 22 | c.367 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109254505 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 130 | 0.0077 | 22 | c.367 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101385367 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0063 | 1 | 174 | 0.0058 | 22 | c.158 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0120 | 1 | 174 | 0.0058 | 22 | c.386 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101520633 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03492.hp1 NA19005.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0002t0006a0002c0004t0001 | a0001c0001t0002g0111a0001c0002t0006g0041a0002c0004t0001g0145 | 3 | 174 | 0.0172 | 22 | c.386 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101520655 | C | CACACACC others(15): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 174 | 0.0058 | 22 | c.386 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114253296 | A | AAAGAAAG others(15): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0006 | a0006c0004 | a0006c0004t0005 | a0006c0004t0005g0113 | 1 | 308 | 0.0033 | 22 | c.314 others(39): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL2A1_chr12_47967967_48009476 | 48008121 | G | GAAAGAAA others(15): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0015 | 1 | 414 | 0.0024 | 22 | c.-38 others(33): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3646 | chr12 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110198078 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 344 | 0.0029 | 22 | c.128 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 21/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110219682 | A | ATATATGT others(15): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0033a0001c0051a0002c0004 | a0001c0033t0001a0001c0051t0001a0002c0004t0001 | a0001c0033t0001g0098a0001c0033t0001g0099a0001c0051t0001g0114others(1): Show | 4 | 344 | 0.0116 | 22 | c.145 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110219688 | A | ATGTATAT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(16): Show | a0001c0001t0001g0044a0001c0001t0001g0071a0001c0001t0001g0129others(24): Show | 27 | 344 | 0.0785 | 22 | c.145 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110219688 | A | ATGTATAT others(15): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18971.hp2 NA18972.hp2 |
a0001a0004 | a0001c0001a0001c0019a0004c0005 | a0001c0001t0001a0001c0019t0001a0004c0005t0001 | a0001c0001t0001g0039a0001c0019t0001g0066a0004c0005t0001g0045 | 3 | 344 | 0.0087 | 22 | c.145 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110219690 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01515.hp1 HG02129.hp1 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0040a0001c0003t0001g0088others(13): Show | 16 | 344 | 0.0465 | 22 | c.145 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252675 | A | AATATGTA others(15): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03209.hp2 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0010a0001c0051a0002c0004 | a0001c0010t0001a0001c0051t0001a0002c0004t0001others(1): Show | a0001c0010t0001g0113a0001c0051t0001g0114a0002c0004t0001g0193others(1): Show | 4 | 344 | 0.0116 | 22 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110509245 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18961.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0002 | a0001c0003t0001g0165a0001c0005t0002g0297 | 2 | 372 | 0.0054 | 22 | c.488 others(41): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110509270 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0067 | a0003c0067t0050 | a0003c0067t0050g0151 | 1 | 372 | 0.0027 | 22 | c.488 others(41): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202747 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0107 | 1 | 344 | 0.0029 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203196 | C | CACATATA others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01361.hp1 HG01516.hp1 others(7): Show |
a0001a0005a0017 | a0001c0001a0005c0005a0017c0019 | a0001c0001t0002a0005c0005t0001a0005c0005t0007others(1): Show | a0001c0001t0002g0344a0005c0005t0001g0176a0005c0005t0001g0177others(7): Show | 10 | 344 | 0.0291 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203316 | C | CACATATA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0002a0003c0011t0001 | a0001c0001t0002g0266a0003c0011t0001g0090 | 2 | 344 | 0.0058 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203317 | A | ACACATAT others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0020 | a0020c0050 | a0020c0050t0011 | a0020c0050t0011g0061 | 1 | 344 | 0.0029 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203363 | A | ACACATAT others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0002a0003c0011t0001 | a0001c0001t0002g0266a0003c0011t0001g0090 | 2 | 344 | 0.0058 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203763 | A | ATGTGTAT others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01167.hp2 HG01169.hp1 others(14): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0002a0004c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0003others(6): Show | a0001c0001t0001g0119a0001c0001t0001g0219a0001c0001t0001g0284others(14): Show | 17 | 344 | 0.0494 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227218080 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0312 | 1 | 344 | 0.0029 | 22 | c.88- others(39): 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(15): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0116 | 1 | 344 | 0.0029 | 22 | c.546 others(37): 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(15): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 344 | 0.0029 | 22 | c.546 others(37): 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(15): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0048 | 1 | 344 | 0.0029 | 22 | c.546 others(37): 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(15): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0245 | 1 | 344 | 0.0029 | 22 | c.546 others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227274260 | A | AATAAATA others(15): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0116 | 1 | 344 | 0.0029 | 22 | c.192 others(41): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 26/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227302677 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01981.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0035a0001c0001t0001g0205 | 3 | 344 | 0.0087 | 22 | c.388 others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227041838 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 284 | 0.0035 | 22 | c.350 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041848 | G | GAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0005 | a0005c0045 | a0005c0045t0003 | a0005c0045t0003g0061 | 1 | 284 | 0.0035 | 22 | c.350 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041848 | G | GAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 284 | 0.0035 | 22 | c.350 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227045929 | A | ATATATGT others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 NA18906.hp1 others(1): Show |
a0020a0035a0036 | a0020c0041a0020c0054a0035c0037others(1): Show | a0020c0041t0010a0020c0054t0010a0035c0037t0016others(1): Show | a0020c0041t0010g0028a0020c0054t0010g0020a0035c0037t0016g0003others(1): Show | 4 | 284 | 0.0141 | 22 | c.328 others(41): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar |