| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COL4A5_chrX_108434838_108702545 | 108506341 | CATCTATC others(13): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 269 | 0.0037 | -20 | c.82- others(37): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| COL4A5_chrX_108434838_108702545 | 108526589 | CTCCCTCC others(13): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA18967.hp1 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023a0002c0002t0001g0032a0002c0002t0001g0268 | 3 | 269 | 0.0112 | -20 | c.82- others(37): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| COL4A5_chrX_108434838_108702545 | 108526671 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0012 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | 269 | 0.0112 | -20 | c.82- others(37): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| COL4A5_chrX_108434838_108702545 | 108699131 | ATGTGTGT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02886.hp1 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0167a0002c0002t0001g0004a0002c0002t0001g0005 | 3 | 269 | 0.0112 | -20 | c.*27 others(31): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1587 | chrX | TogoVar | ||||||
| COL4A6_chrX_108150614_108443422 | 108237859 | CATCTATC others(13): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0201 | 1 | 234 | 0.0043 | -20 | c.145 others(39): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
| COL4A6_chrX_108150614_108443422 | 108238034 | ATATCTAT others(13): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0002c0011t0003 | a0001c0001t0001g0063a0001c0001t0001g0137a0001c0001t0001g0154others(1): Show | 4 | 234 | 0.0171 | -20 | c.145 others(39): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134669215 | CCCTTCCC others(13): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02735.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0003a0001c0005t0050a0001c0006t0048others(2): Show | a0001c0001t0003g0133a0001c0005t0050g0271a0001c0006t0048g0047others(2): Show | 5 | 272 | 0.0184 | -20 | c.110 others(39): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL5A1_chr9_134636803_134849843 | 134796934 | GCCTGTCC others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(57): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(141): Show | a0001c0001t0001g0033a0001c0001t0002g0023a0001c0001t0002g0069others(208): Show | 212 | 272 | 0.7794 | -20 | c.289 others(35): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 36/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL5A1_chr9_134636803_134849843 | 134847028 | TATCCATC others(13): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0025 | a0001c0025t0015 | a0001c0025t0015g0007 | 1 | 272 | 0.0037 | -20 | c.*47 others(31): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 2186 | chr9 | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134848038 | CTGAGAAG others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01175.hp1 HG01255.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0023others(1): Show | a0001c0001t0001a0001c0001t0027a0001c0001t0059others(4): Show | a0001c0001t0001g0041a0001c0001t0027g0210a0001c0001t0059g0093others(7): Show | 10 | 272 | 0.0368 | -20 | c.*57 others(31): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 3196 | chr9 | TogoVar | ||||||
| COL5A2_chr2_189026898_189184761 | 189094588 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0142 | 1 | 248 | 0.0040 | -20 | c.457 others(37): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | TogoVar | ||||||
| COL5A3_chr19_9954561_10015504 | 9964854 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00642.hp2 others(14): Show |
a0001a0003a0007others(7): Show | a0001c0001a0003c0009a0003c0125others(9): Show | a0001c0001t0001a0003c0009t0003a0003c0125t0003others(10): Show | a0001c0001t0001g0320a0003c0009t0003g0357a0003c0125t0003g0369others(14): Show | 17 | 412 | 0.0413 | -20 | c.478 others(39): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | ||||||
| COL5A3_chr19_9954561_10015504 | 9972304 | TTCACTCG others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(194): Show |
a0002a0003a0004others(48): Show | a0002c0002a0002c0020a0002c0034others(82): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(103): Show | a0002c0002t0001g0069a0002c0002t0001g0313a0002c0002t0001g0315others(193): Show | 197 | 412 | 0.4782 | -20 | c.377 others(37): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 51/66 | chr19 | TogoVar | ||||||
| COL5A3_chr19_9954561_10015504 | 9977947 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG02630.hp2 HG03209.hp2 |
a0032a0070 | a0032c0085a0032c0122a0070c0098 | a0032c0085t0012a0032c0122t0001a0070c0098t0001 | a0032c0085t0012g0146a0032c0122t0001g0170a0070c0098t0001g0006 | 3 | 412 | 0.0073 | -20 | c.301 others(37): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 41/66 | chr19 | TogoVar | ||||||
| COL5A3_chr19_9954561_10015504 | 9983529 | GAAGAAAG others(13): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02818.hp2 others(4): Show |
a0001a0006a0008others(2): Show | a0001c0001a0001c0003a0006c0055others(3): Show | a0001c0001t0001a0001c0003t0002a0006c0055t0002others(3): Show | a0001c0001t0001g0353a0001c0001t0001g0378a0001c0003t0002g0137others(4): Show | 7 | 412 | 0.0170 | -20 | c.240 others(39): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | ||||||
| COL5A3_chr19_9954561_10015504 | 9994559 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG03669.hp1 |
a0001a0025 | a0001c0001a0025c0031 | a0001c0001t0002a0025c0031t0004 | a0001c0001t0002g0328a0025c0031t0004g0131 | 2 | 412 | 0.0049 | -20 | c.158 others(37): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 16/66 | chr19 | TogoVar | ||||||
| COL6A1_chr21_45976770_46010048 | 45980716 | CTCTGTCT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0013 | a0013c0020 | a0013c0020t0002 | a0013c0020t0002g0002 | 1 | 128 | 0.0078 | -20 | c.-11 others(31): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1053 | chr21 | TogoVar | ||||||
| COL6A3_chr2_237319018_237419164 | 237415315 | AAGAAGAG others(13): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0075 | a0003c0075t0001 | a0003c0075t0001g0192 | 1 | 322 | 0.0031 | -20 | c.-14 others(31): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1152 | chr2 | TogoVar | ||||||
| COL6A5_chr3_130340672_130489846 | 130362312 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03579.hp1 NA18906.hp1 |
a0004a0011a0029 | a0004c0003a0011c0012a0029c0088 | a0004c0003t0003a0011c0012t0003a0029c0088t0014 | a0004c0003t0003g0087a0011c0012t0003g0089a0029c0088t0014g0088 | 3 | 292 | 0.0103 | -20 | c.-28 others(39): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A5_chr3_130340672_130489846 | 130362314 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01169.hp2 HG01981.hp2 others(10): Show |
a0001a0011a0020others(3): Show | a0001c0001a0011c0012a0020c0023others(3): Show | a0001c0001t0002a0001c0001t0003a0011c0012t0003others(5): Show | a0001c0001t0002g0189a0001c0001t0002g0190a0001c0001t0002g0191others(10): Show | 13 | 292 | 0.0445 | -20 | c.-28 others(39): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130531015 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG02559.hp1 others(11): Show |
a0003a0004a0020others(1): Show | a0003c0023a0003c0027a0003c0060others(6): Show | a0003c0023t0003a0003c0023t0007a0003c0027t0004others(8): Show | a0003c0023t0003g0022a0003c0023t0007g0211a0003c0027t0004g0213others(10): Show | 14 | 264 | 0.0530 | -20 | c.-32 others(39): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130572399 | AAGATACT others(13): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG03098.hp1 NA19030.hp1 |
a0019a0035 | a0019c0021a0035c0058 | a0019c0021t0003a0019c0021t0005a0035c0058t0004 | a0019c0021t0003g0198a0019c0021t0005g0030a0035c0058t0004g0240 | 3 | 264 | 0.0114 | -20 | c.297 others(39): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130590291 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0182 | 1 | 264 | 0.0038 | -20 | c.421 others(37): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130590293 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | NA18982.hp1 NA18988.hp1 NA19005.hp2 |
a0003 | a0003c0010 | a0003c0010t0009 | a0003c0010t0009g0251a0003c0010t0009g0252a0003c0010t0009g0253 | 3 | 264 | 0.0114 | -20 | c.421 others(37): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130590295 | ATATATTT others(13): Show |
A | intron_variant | MODIFIER | HG03225.hp2 HG03239.hp2 NA18971.hp1 |
a0004a0005a0006 | a0004c0004a0005c0003a0006c0015 | a0004c0004t0005a0005c0003t0004a0006c0015t0004 | a0004c0004t0005g0043a0005c0003t0004g0224a0006c0015t0004g0225 | 3 | 264 | 0.0114 | -20 | c.421 others(37): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130590299 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0153 | 1 | 264 | 0.0038 | -20 | c.421 others(37): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL8A2_chr1_36090239_36130222 | 36115945 | TCCCAGCT others(13): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0249 | 1 | 390 | 0.0026 | -20 | c.-61 others(35): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| COL9A1_chr6_70211126_70308084 | 70257791 | CACTCTAA others(13): Show |
C | intron_variant | MODIFIER | HG02165.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079a0001c0001t0003g0117 | 2 | 362 | 0.0055 | -20 | c.145 others(37): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 20/37 | chr6 | TogoVar | ||||||
| COLEC10_chr8_119062247_119113455 | 119064254 | AGTACACA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0170a0001c0001t0007g0010a0001c0001t0007g0201others(2): Show | 5 | 388 | 0.0129 | -20 | c.-30 others(31): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 2992 | chr8 | TogoVar | ||||||
| COLEC10_chr8_119062247_119113455 | 119078990 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(133): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(125): Show | 136 | 388 | 0.3505 | -20 | c.149 others(39): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COLEC10_chr8_119062247_119113455 | 119102206 | TCCTTCCT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01123.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0008a0001c0001t0005g0192a0001c0001t0005g0193others(22): Show | 26 | 388 | 0.0670 | -20 | c.293 others(35): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COLEC11_chr2_3590112_3649644 | 3648373 | GCTCCTGA others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 378 | 0.0027 | -20 | c.*42 others(31): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3730 | chr2 | TogoVar | ||||||
| COLEC12_chr18_311737_505701 | 419148 | CTTCTATT others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01175.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0004others(20): Show | a0001c0003t0002g0198a0001c0003t0002g0199a0001c0003t0003g0352others(24): Show | 27 | 366 | 0.0738 | -20 | c.58+ others(37): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
| COLEC12_chr18_311737_505701 | 442002 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0004 | a0001c0004t0243 | a0001c0004t0243g0275 | 1 | 366 | 0.0027 | -20 | c.58+ others(37): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
| COLGALT1_chr19_17550649_17588157 | 17552913 | AAAATAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp1 NA18954.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0053a0001c0003t0004 | a0001c0001t0053g0127a0001c0003t0004g0221 | 2 | 396 | 0.0051 | -20 | c.-28 others(31): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 2735 | chr19 | TogoVar | ||||||
| COLGALT2_chr1_183930834_184042728 | 184031817 | ATCCTTCC others(13): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01884.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0040a0001c0002t0002others(1): Show | a0001c0001t0001g0112a0001c0001t0040g0311a0001c0002t0002g0110others(1): Show | 4 | 340 | 0.0118 | -20 | c.263 others(37): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
| COLQ_chr3_15445133_15526706 | 15461998 | CTTATTTA others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(15): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0006 | a0001c0003t0004a0002c0002t0005a0004c0006t0004 | a0001c0003t0004g0028a0001c0003t0004g0121a0001c0003t0004g0272others(14): Show | 18 | 382 | 0.0471 | -20 | c.815 others(37): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
| COMMD10_chr5_116080025_116298287 | 116110862 | AGGACAAT others(13): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324a0001c0001t0001g0325a0001c0001t0001g0326others(1): Show | 4 | 350 | 0.0114 | -20 | c.399 others(39): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| COMMD10_chr5_116080025_116298287 | 116215695 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 | 1 | 350 | 0.0029 | -20 | c.511 others(39): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| COMMD1_chr2_61900674_62141058 | 62014542 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 286 | 0.0035 | -20 | c.462 others(39): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COMMD1_chr2_61900674_62141058 | 62027621 | TTTATGTT others(13): Show |
T | intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 286 | 0.0035 | -20 | c.462 others(39): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COMT_chr22_19936772_19974975 | 19952953 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 NA19043.hp2 |
a0001 | a0001c0003a0001c0004a0001c0009 | a0001c0003t0004a0001c0004t0003a0001c0009t0006 | a0001c0003t0004g0319a0001c0004t0003g0210a0001c0009t0006g0069 | 3 | 426 | 0.0070 | -20 | c.-91 others(37): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| COP1_chr1_175939831_176212286 | 176151318 | AGAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03540.hp2 HG03704.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0013a0001c0002t0002g0014a0001c0002t0002g0025others(2): Show | 5 | 300 | 0.0167 | -20 | c.763 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176151337 | AGGAAGGA others(13): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006a0001c0002t0002g0010a0001c0002t0002g0011others(2): Show | 5 | 300 | 0.0167 | -20 | c.763 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176151353 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0082a0001c0001t0001g0182 | 3 | 300 | 0.0100 | -20 | c.763 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176165361 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0277a0001c0001t0004g0278a0001c0001t0004g0279others(2): Show | 5 | 300 | 0.0167 | -20 | c.566 others(37): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 3/19 | chr1 | TogoVar | ||||||
| COPA_chr1_160283594_160348250 | 160300344 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | NA18954.hp2 NA18971.hp2 NA18974.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0087a0001c0002t0002g0103others(3): Show | 7 | 366 | 0.0191 | -20 | c.166 others(39): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 17/32 | chr1 | TogoVar | ||||||
| COPE_chr19_18894514_18924387 | 18902772 | AGAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0270 | 1 | 330 | 0.0030 | -20 | c.735 others(35): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130513302 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 326 | 0.0031 | -20 | c.215 others(39): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130513304 | AAAAAATA others(13): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 326 | 0.0031 | -20 | c.215 others(39): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar |