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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL5A1_chr9_134636803_134849843 | 134828859 | ACACACAC | A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0009a0001c0005t0022a0001c0007t0017others(1): Show | a0001c0001t0009g0233 a0001c0005t0022g0086 a0001c0007t0017g0241 others(1): Show |
4 | 270 | 0.0148 | -7 | c.506 others(26): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134847584 | GTATGGTA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(128): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(79): Show | a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 others(128): Show |
131 | 270 | 0.4852 | -7 | c.*52 others(18): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 2742 | chr9 | TogoVar | |||||||
COL5A2_chr2_189026898_189184761 | 189050280 | CTCCGGGA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(95): Show |
98 | 246 | 0.3984 | -7 | c.303 others(24): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 43/53 | chr2 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9964854 | TAAAAAAA | T | intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 HG02922.hp2 others(3): Show |
a0007a0028a0036 | a0007c0055a0007c0082a0028c0056others(2): Show | a0007c0055t0001a0007c0055t0002a0007c0082t0007others(3): Show | a0007c0055t0001g0299 a0007c0055t0002g0288 a0007c0082t0007g0182 others(3): Show |
6 | 18 | 0.3333 | -7 | c.478 others(26): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9965150 | CTTTTTCT | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00558.hp2 others(73): Show |
a0003a0007a0008others(19): Show | a0003c0009a0003c0011a0003c0125others(28): Show | a0003c0009t0003a0003c0011t0003a0003c0011t0006others(39): Show | a0003c0009t0003g0079 a0003c0009t0003g0295 a0003c0009t0003g0311 others(71): Show |
76 | 380 | 0.2000 | -7 | c.478 others(26): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 10000452 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01070.hp1 others(21): Show |
a0001a0007a0009others(6): Show | a0001c0001a0001c0024a0007c0022others(7): Show | a0001c0001t0001a0001c0024t0001a0007c0022t0007others(8): Show | a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0024t0001g0317 others(20): Show |
24 | 158 | 0.1519 | -7 | c.111 others(26): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 8/66 | chr19 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46101847 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01099.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0009others(6): Show | a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0271 others(24): Show |
30 | 37 | 0.8108 | -7 | c.-28 others(24): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134349 | GGGGGTCA | G | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG02451.hp1 others(9): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0003a0003c0004t0004 | a0002c0003t0003g0060 a0002c0003t0003g0088 a0003c0004t0004g0047 others(9): Show |
12 | 363 | 0.0331 | -7 | c.*48 others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4549 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46101847 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01099.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0009others(8): Show | a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0002t0002g0005 others(22): Show |
28 | 35 | 0.8000 | -7 | c.-28 others(24): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134349 | GGGGGTCA | G | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG02451.hp1 others(9): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0001a0004c0005t0004 | a0002c0003t0001g0061 a0002c0003t0001g0089 a0004c0005t0004g0048 others(9): Show |
12 | 355 | 0.0338 | -7 | c.*17 others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1502 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46135895 | GCATTCCC | G | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02886.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0246 a0001c0007t0003g0262 a0001c0007t0003g0263 others(1): Show |
4 | 362 | 0.0110 | -7 | c.*33 others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3048 | chr21 | TogoVar | |||||||
COL6A5_chr3_130340672_130489846 | 130475007 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
a0012a0013a0014others(1): Show | a0012c0012a0013c0016a0013c0075others(2): Show | a0012c0012t0002a0013c0016t0001a0013c0016t0010others(3): Show | a0012c0012t0002g0193 a0013c0016t0001g0144 a0013c0016t0010g0017 others(11): Show |
14 | 158 | 0.0886 | -7 | c.781 others(26): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130527890 | CTTTTTTT | C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00738.hp2 others(34): Show |
a0003a0004a0008others(5): Show | a0003c0004a0003c0022a0004c0010others(7): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(20): Show | a0003c0004t0001g0172 a0003c0004t0001g0206 a0003c0004t0002g0038 others(34): Show |
37 | 89 | 0.4157 | -7 | c.-32 others(26): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130542898 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(19): Show |
a0001a0004a0008others(3): Show | a0001c0001a0004c0010a0008c0006others(5): Show | a0001c0001t0002a0004c0010t0001a0004c0010t0009others(10): Show | a0001c0001t0002g0110 a0004c0010t0001g0181 a0004c0010t0009g0251 others(19): Show |
22 | 90 | 0.2444 | -7 | c.-31 others(26): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130561634 | CTTTTTTT | C | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp1 HG02622.hp2 others(4): Show |
a0006a0014a0032others(1): Show | a0006c0015a0014c0011a0032c0042others(1): Show | a0006c0015t0001a0014c0011t0001a0014c0011t0003others(3): Show | a0006c0015t0001g0205 a0014c0011t0001g0177 a0014c0011t0003g0178 others(4): Show |
7 | 38 | 0.1842 | -7 | c.64+ others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590292 | TATATATA | T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp1 |
a0008 | a0008c0006 | a0008c0006t0004 | a0008c0006t0004g0241 a0008c0006t0004g0242 a0008c0006t0004g0243 |
3 | 256 | 0.0117 | -7 | c.421 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | TogoVar | |||||||
COL8A2_chr1_36090239_36130222 | 36090679 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00735.hp1 others(55): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0006a0003c0008others(2): Show | a0001c0002t0002a0001c0002t0006a0001c0006t0002others(4): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0027 others(44): Show |
58 | 73 | 0.7945 | -7 | c.*68 others(18): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 4559 | chr1 | TogoVar | |||||||
COL8A2_chr1_36090239_36130222 | 36121388 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0002others(8): Show | a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 others(55): Show |
73 | 115 | 0.6348 | -7 | c.-62 others(24): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70302155 | CCTAATTA | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00738.hp2 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0003c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0021 a0001c0001t0003g0014 a0001c0001t0004g0259 others(23): Show |
28 | 360 | 0.0778 | -7 | c.15- others(18): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 1/37 | chr6 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321124 | TATATATA | T | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02818.hp1 HG03516.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0039 a0004c0004t0002g0067 |
3 | 286 | 0.0105 | -7 | c.-39 others(18): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3839 | chr1 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069628 | AAATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG02602.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0100 a0001c0001t0001g0217 others(6): Show |
10 | 381 | 0.0262 | -7 | c.148 others(24): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069630 | ATATATAT | A | intron_variant | MODIFIER | HG01123.hp2 HG01433.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0011 a0001c0001t0004g0205 a0001c0001t0005g0001 |
5 | 370 | 0.0135 | -7 | c.148 others(24): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119085599 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01099.hp2 others(29): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0004g0104 others(17): Show |
32 | 280 | 0.1143 | -7 | c.149 others(24): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319321 | TAAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG02922.hp2 HG02970.hp2 others(5): Show |
a0001a0003 | a0001c0003a0001c0004a0001c0005others(1): Show | a0001c0003t0014a0001c0003t0047a0001c0004t0108others(3): Show | a0001c0003t0014g0048 a0001c0003t0014g0327 a0001c0003t0047g0131 others(5): Show |
8 | 235 | 0.0340 | -7 | c.*71 others(16): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 717 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319336 | AAAAAAAT | A | 3_prime_UTR_variant | MODIFIER | HG02897.hp1 HG02965.hp2 HG03041.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0001a0003c0002others(2): Show | a0001c0004t0048a0001c0004t0049a0001c0004t0161others(4): Show | a0001c0004t0048g0121 a0001c0004t0049g0120 a0001c0004t0161g0117 others(5): Show |
8 | 349 | 0.0229 | -7 | c.*70 others(16): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 702 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 359018 | TCTCTGTA | T | intron_variant | MODIFIER | HG01243.hp1 HG01256.hp2 HG01258.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0004a0001c0003t0006a0001c0003t0010others(16): Show | a0001c0003t0004g0351 a0001c0003t0006g0051 a0001c0003t0010g0003 others(16): Show |
20 | 364 | 0.0549 | -7 | c.59- others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 385316 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01109.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0006a0001c0003t0012a0001c0003t0027others(46): Show | a0001c0003t0006g0051 a0001c0003t0006g0343 a0001c0003t0012g0305 others(51): Show |
54 | 88 | 0.6136 | -7 | c.59- others(24): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 406515 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG01261.hp2 others(4): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0091a0001c0004t0005a0002c0001t0039others(4): Show | a0001c0003t0091g0216 a0001c0004t0005g0138 a0002c0001t0039g0282 others(4): Show |
7 | 43 | 0.1628 | -7 | c.59- others(24): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLGALT1_chr19_17550649_17588157 | 17583576 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01109.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0018others(3): Show | a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0006g0006 others(14): Show |
26 | 200 | 0.1300 | -7 | c.*21 others(18): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 420 | chr19 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184035145 | ACCAGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(90): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0002g0112 a0001c0001t0004g0011 a0001c0001t0004g0012 others(90): Show |
93 | 338 | 0.2751 | -7 | c.263 others(24): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
COLQ_chr3_15445133_15526706 | 15454651 | GTTTTTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(115): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0023 others(100): Show |
118 | 261 | 0.4521 | -7 | c.119 others(24): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
COLQ_chr3_15445133_15526706 | 15463339 | GTTGTTTT | G | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02615.hp2 others(14): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0006 | a0001c0003t0004a0002c0002t0005a0004c0006t0004 | a0001c0003t0004g0028 a0001c0003t0004g0121 a0001c0003t0004g0272 others(13): Show |
17 | 380 | 0.0447 | -7 | c.814 others(24): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 12/16 | chr3 | TogoVar | |||||||
COLQ_chr3_15445133_15526706 | 15497036 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02280.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0005a0003c0004t0002 | a0001c0001t0001g0248 a0001c0001t0001g0260 a0002c0002t0005g0020 others(9): Show |
14 | 225 | 0.0622 | -7 | c.107 others(24): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116154160 | CATTATCA | C | intron_variant | MODIFIER | HG02280.hp1 HG02647.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(4): Show |
7 | 348 | 0.0201 | -7 | c.510 others(26): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116247957 | CTTAAAAG | C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0324 others(4): Show |
7 | 348 | 0.0201 | -7 | c.511 others(26): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62014542 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 others(77): Show |
80 | 82 | 0.9756 | -7 | c.462 others(26): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62080528 | AGAAACAG | A | intron_variant | MODIFIER | HG01261.hp1 HG02451.hp1 HG02922.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 others(6): Show |
9 | 284 | 0.0317 | -7 | c.463 others(26): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62115853 | TTTCTTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(117): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(117): Show |
120 | 284 | 0.4225 | -7 | c.463 others(26): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD2_chr3_149733472_149757489 | 149742975 | AAAAAAAG | A | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00738.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0044 others(10): Show |
40 | 422 | 0.0948 | -7 | c.403 others(24): Show |
COMMD2 | ENSG00000114744.9 | transcript | ENST00000473414.6 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
COMMD3_chr10_22311388_22325306 | 22316220 | AGCTGGAC | A | upstream_gene_variant | MODIFIER | HG01975.hp2 HG02896.hp1 HG03139.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0004 a0002c0002t0003g0014 |
4 | 306 | 0.0131 | -7 | c.-19 others(16): Show |
COMMD3 | ENSG00000148444.16 | transcript | ENST00000376836.8 | protein_coding | 167 | chr10 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32705369 | TATATATA | T | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0358 others(3): Show |
7 | 398 | 0.0176 | -7 | c.337 others(22): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 5/8 | chr20 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32712269 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG00741.hp2 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 others(67): Show |
75 | 218 | 0.3440 | -7 | c.242 others(24): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32728679 | ACCTCAGC | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(106): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(99): Show |
109 | 398 | 0.2739 | -7 | c.85- others(20): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
COMT_chr22_19936772_19974975 | 19948954 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG01256.hp2 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0005a0001c0003t0007others(2): Show | a0001c0002t0001g0044 a0001c0002t0001g0191 a0001c0003t0005g0003 others(11): Show |
17 | 155 | 0.1097 | -7 | c.-92 others(24): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 175949168 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp2 HG01169.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0286 a0001c0001t0003g0299 a0001c0001t0003g0300 others(11): Show |
14 | 34 | 0.4118 | -7 | c.213 others(26): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 175998084 | AAAAAAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG01496.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0286 others(10): Show |
13 | 298 | 0.0436 | -7 | c.173 others(26): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 15/19 | chr1 | TogoVar | |||||||
COPA_chr1_160283594_160348250 | 160301339 | ATTTTTGG | A | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG03471.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006others(1): Show | a0001c0001t0006a0002c0003t0006a0002c0006t0006others(1): Show | a0001c0001t0006g0280 a0002c0003t0006g0187 a0002c0003t0006g0188 others(12): Show |
15 | 364 | 0.0412 | -7 | c.166 others(26): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 17/32 | chr1 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14462174 | CAGTAGAG | C | intron_variant | MODIFIER | HG01256.hp1 HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0212 |
3 | 384 | 0.0078 | -7 | c.241 others(24): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 18/21 | chr11 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18902778 | AAGGAAGG | A | intron_variant | MODIFIER | HG02615.hp2 HG03239.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0002t0001g0098 others(1): Show |
4 | 325 | 0.0123 | -7 | c.735 others(22): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
COPG1_chr3_129244606_129282773 | 129263740 | CCTTCAAG | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(62): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(9): Show | a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0077 others(37): Show |
65 | 324 | 0.2006 | -7 | c.112 others(24): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |