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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL11A1_chr1_102871473_103113522 | 102878475 | CATATAT | C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02896.hp1 |
a0001a0006 | a0001c0006a0006c0017 | a0001c0006t0010a0006c0017t0001 | a0001c0006t0010g0180 a0006c0017t0001g0024 a0006c0017t0001g0026 |
3 | 184 | 0.0163 | -6 | c.527 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 66/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102945247 | ACTCTCT | A | intron_variant | MODIFIER | HG03041.hp1 NA20805.hp1 |
a0002a0003 | a0002c0001a0003c0011 | a0002c0001t0001a0003c0011t0001 | a0002c0001t0001g0153 a0003c0011t0001g0044 |
2 | 184 | 0.0109 | -6 | c.327 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 42/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102976289 | CTTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02055.hp2 others(27): Show |
a0001a0002a0006others(3): Show | a0001c0002a0001c0004a0001c0006others(8): Show | a0001c0002t0002a0001c0002t0003a0001c0004t0004others(11): Show | a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0020 others(27): Show |
30 | 184 | 0.1630 | -6 | c.275 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 35/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103005900 | CCATCAT | C | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp1 HG02976.hp2 others(3): Show |
a0001a0009 | a0001c0004a0001c0006a0001c0016others(1): Show | a0001c0004t0004a0001c0004t0005a0001c0006t0001others(2): Show | a0001c0004t0004g0040 a0001c0004t0004g0042 a0001c0004t0005g0041 others(3): Show |
6 | 184 | 0.0326 | -6 | c.179 others(21): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 17/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103024619 | ATGAATT | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp2 others(15): Show |
a0001a0003a0004others(2): Show | a0001c0008a0001c0009a0003c0026others(3): Show | a0001c0008t0006a0001c0009t0001a0001c0009t0007others(4): Show | a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 others(15): Show |
18 | 184 | 0.0978 | -6 | c.990 others(21): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 7/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103027396 | AATATAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0016 | a0001c0002t0003a0001c0005t0004a0001c0016t0004 | a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0005t0004g0015 others(1): Show |
4 | 184 | 0.0217 | -6 | c.781 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 5/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103036322 | GTATATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(51): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0001c0016others(9): Show | a0001c0002t0003a0001c0006t0010a0001c0016t0001others(11): Show | a0001c0002t0003g0063 a0001c0006t0010g0180 a0001c0016t0001g0102 others(51): Show |
54 | 184 | 0.2935 | -6 | c.652 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103037252 | TTGTGTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp1 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0005a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0008a0001c0005t0005others(13): Show | a0001c0002t0001g0095 a0001c0002t0008g0027 a0001c0005t0005g0061 others(23): Show |
26 | 184 | 0.1413 | -6 | c.652 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103071869 | GTATATA | G | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(34): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0005a0001c0016others(12): Show | a0001c0004t0004a0001c0004t0005a0001c0005t0005others(14): Show | a0001c0004t0004g0018 a0001c0004t0004g0040 a0001c0004t0004g0042 others(34): Show |
37 | 184 | 0.2011 | -6 | c.651 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208168 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG03486.hp1 NA18945.hp2 NA18982.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(2): Show | a0001c0001t0001g0181 a0001c0001t0003g0162 a0001c0001t0021g0201 others(2): Show |
5 | 206 | 0.0243 | -6 | c.-24 others(17): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2116 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69810346 | ATGAGAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG02683.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0028 | a0001c0002t0001a0001c0002t0004a0002c0028t0004 | a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 others(2): Show |
5 | 324 | 0.0154 | -6 | c.294 others(23): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | chr10 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69810347 | TGAGAGA | T | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG02040.hp2 others(40): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(17): Show | a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 others(40): Show |
43 | 324 | 0.1327 | -6 | c.294 others(23): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69830593 | GATGGAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(61): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0080 others(61): Show |
64 | 324 | 0.1975 | -6 | c.364 others(23): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69877699 | TCACACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00738.hp2 others(38): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0020 others(38): Show |
41 | 324 | 0.1265 | -6 | c.436 others(21): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120128228 | CGTGTGT | C | intron_variant | MODIFIER | HG01243.hp1 HG02976.hp2 HG03098.hp2 others(2): Show |
a0001a0002a0005 | a0001c0005a0002c0002a0002c0012others(1): Show | a0001c0005t0001a0001c0005t0005a0002c0002t0001others(2): Show | a0001c0005t0001g0203 a0001c0005t0005g0141 a0002c0002t0001g0011 others(2): Show |
5 | 218 | 0.0229 | -6 | c.-38 others(23): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200715 | TTATATA | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0002a0003c0004others(1): Show | a0001c0005t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0005t0001g0041 a0002c0002t0001g0007 a0002c0002t0001g0008 others(8): Show |
11 | 218 | 0.0505 | -6 | c.877 others(23): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120313607 | CACTTAT | C | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0014 a0001c0005t0001g0040 a0001c0005t0001g0041 others(2): Show |
5 | 218 | 0.0229 | -6 | c.445 others(23): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 37/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98989023 | GACACAC | G | intron_variant | MODIFIER | HG00558.hp1 HG01175.hp1 HG01515.hp1 others(2): Show |
a0012a0014a0017others(1): Show | a0012c0014a0014c0020a0014c0049others(2): Show | a0012c0014t0012a0014c0020t0001a0014c0049t0001others(2): Show | a0012c0014t0012g0210 a0014c0020t0001g0294 a0014c0049t0001g0300 others(2): Show |
5 | 310 | 0.0161 | -6 | c.724 others(21): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 4/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99042508 | ACCTGCT | A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG01074.hp1 others(46): Show |
a0001a0002a0003others(13): Show | a0001c0013a0002c0002a0002c0069others(14): Show | a0001c0013t0001a0002c0002t0001a0002c0069t0010others(14): Show | a0001c0013t0001g0015 a0001c0013t0001g0046 a0001c0013t0001g0064 others(46): Show |
49 | 310 | 0.1581 | -6 | c.257 others(23): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 24/41 | chr9 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99060232 | TTTTATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(85): Show |
a0001a0002a0003others(19): Show | a0001c0013a0002c0002a0002c0010others(25): Show | a0001c0013t0001a0002c0002t0001a0002c0010t0001others(26): Show | a0001c0013t0001g0015 a0001c0013t0001g0046 a0001c0013t0001g0064 others(85): Show |
88 | 310 | 0.2839 | -6 | c.340 others(23): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 36/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99069248 | TATTGTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(145): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0013a0001c0031others(44): Show | a0001c0001t0001a0001c0013t0001a0001c0031t0001others(44): Show | a0001c0001t0001g0196 a0001c0013t0001g0015 a0001c0013t0001g0046 others(145): Show |
148 | 310 | 0.4774 | -6 | c.395 others(23): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 41/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99073051 | GTGTGTA | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02717.hp2 others(11): Show |
a0004a0006a0010others(5): Show | a0004c0005a0006c0007a0006c0078others(6): Show | a0004c0005t0001a0006c0007t0001a0006c0078t0001others(7): Show | a0004c0005t0001g0307 a0006c0007t0001g0116 a0006c0007t0001g0217 others(11): Show |
14 | 310 | 0.0452 | -6 | c.*31 others(17): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2265 | chr9 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99073057 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG02027.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0003c0004others(6): Show | a0001c0001t0003a0002c0003t0003a0003c0004t0003others(6): Show | a0001c0001t0003g0234 a0002c0003t0003g0147 a0003c0004t0003g0263 others(10): Show |
13 | 310 | 0.0419 | -6 | c.*31 others(17): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2271 | chr9 | TogoVar | |||||||
COL16A1_chr1_31647263_31709017 | 31664156 | AGGAAGG | A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01243.hp2 others(53): Show |
a0001a0002a0004others(8): Show | a0001c0003a0001c0006a0001c0010others(17): Show | a0001c0003t0001a0001c0006t0001a0001c0006t0002others(26): Show | a0001c0003t0001g0226 a0001c0003t0001g0265 a0001c0006t0001g0007 others(50): Show |
56 | 342 | 0.1637 | -6 | c.355 others(25): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 56/70 | chr1 | TogoVar | |||||||
COL16A1_chr1_31647263_31709017 | 31707379 | CTTTTCT | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG01934.hp2 others(6): Show |
a0001a0004a0021 | a0001c0006a0001c0016a0001c0017others(3): Show | a0001c0006t0004a0001c0016t0003a0001c0017t0003others(3): Show | a0001c0006t0004g0034 a0001c0016t0003g0030 a0001c0016t0003g0039 others(6): Show |
9 | 342 | 0.0263 | -6 | c.-35 others(17): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3363 | chr1 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104038231 | TACACAC | T | intron_variant | MODIFIER | HG01175.hp2 HG02965.hp1 HG03139.hp1 others(2): Show |
a0002a0004a0008others(1): Show | a0002c0002a0002c0010a0004c0004others(2): Show | a0002c0002t0008a0002c0010t0001a0004c0004t0002others(2): Show | a0002c0002t0008g0209 a0002c0010t0001g0028 a0004c0004t0002g0241 others(2): Show |
5 | 336 | 0.0149 | -6 | c.307 others(23): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 45/55 | chr10 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104039766 | CCACACA | C | intron_variant | MODIFIER | HG02647.hp1 NA18522.hp1 NA19240.hp1 |
a0005a0007 | a0005c0015a0007c0034 | a0005c0015t0002a0007c0034t0001 | a0005c0015t0002g0256 a0005c0015t0002g0257 a0007c0034t0001g0264 |
3 | 336 | 0.0089 | -6 | c.278 others(23): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 41/55 | chr10 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104039790 | ACACACG | A | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02109.hp1 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0006a0002c0023a0003c0003others(6): Show | a0001c0006t0003a0002c0023t0004a0003c0003t0001others(7): Show | a0001c0006t0003g0044 a0002c0023t0004g0030 a0003c0003t0001g0050 others(7): Show |
10 | 336 | 0.0298 | -6 | c.278 others(23): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 41/55 | chr10 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104055444 | TCACACA | T | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02145.hp1 others(1): Show |
a0002a0006a0028 | a0002c0023a0006c0008a0028c0045 | a0002c0023t0001a0002c0023t0004a0006c0008t0003others(1): Show | a0002c0023t0001g0286 a0002c0023t0004g0030 a0006c0008t0003g0027 others(1): Show |
4 | 336 | 0.0119 | -6 | c.168 others(21): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 18/55 | chr10 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45413774 | TGCCTGG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(218): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(75): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(91): Show | a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0093 others(218): Show |
221 | 292 | 0.7569 | -6 | c.106 others(23): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45431073 | CTGGTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(57): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(23): Show | a0001c0001t0001g0093 a0001c0001t0001g0175 a0001c0001t0001g0187 others(57): Show |
60 | 292 | 0.2055 | -6 | c.106 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45432236 | AGCTGGG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(124): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(55): Show | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0093 others(124): Show |
127 | 292 | 0.4349 | -6 | c.106 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437734 | ACACACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(64): Show |
a0001a0003a0005others(11): Show | a0001c0001a0001c0003a0001c0004others(27): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(31): Show | a0001c0001t0001g0191 a0001c0003t0001g0005 a0001c0003t0001g0043 others(64): Show |
67 | 292 | 0.2295 | -6 | c.107 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437786 | TCACACA | T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02622.hp1 |
a0001 | a0001c0038a0001c0098 | a0001c0038t0004a0001c0098t0001 | a0001c0038t0004g0028 a0001c0038t0004g0029 a0001c0098t0001g0007 |
3 | 292 | 0.0103 | -6 | c.107 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437848 | ACACACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(36): Show |
a0001a0006a0007others(7): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0002t0012a0001c0003t0001others(19): Show | a0001c0001t0001g0191 a0001c0002t0012g0109 a0001c0003t0001g0043 others(36): Show |
39 | 292 | 0.1336 | -6 | c.107 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437939 | CACTCAG | C | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG02055.hp2 others(14): Show |
a0001a0003a0005others(1): Show | a0001c0003a0001c0011a0003c0009others(7): Show | a0001c0003t0001a0001c0011t0001a0003c0009t0001others(7): Show | a0001c0003t0001g0005 a0001c0003t0001g0048 a0001c0011t0001g0009 others(14): Show |
17 | 292 | 0.0582 | -6 | c.107 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437981 | CACTCAG | C | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG06807.hp1 |
a0001a0019 | a0001c0004a0001c0063a0019c0096 | a0001c0004t0001a0001c0063t0001a0019c0096t0015 | a0001c0004t0001g0026 a0001c0063t0001g0144 a0019c0096t0015g0045 |
3 | 292 | 0.0103 | -6 | c.107 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45438012 | ACACACT | A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01192.hp2 |
a0001a0029 | a0001c0013a0029c0071 | a0001c0013t0002a0001c0013t0014a0029c0071t0002 | a0001c0013t0002g0206 a0001c0013t0014g0210 a0029c0071t0002g0134 |
3 | 292 | 0.0103 | -6 | c.107 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45438090 | ACACACT | A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(56): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(19): Show | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 others(56): Show |
59 | 292 | 0.2021 | -6 | c.107 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45438166 | GCATACA | G | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02572.hp2 others(2): Show |
a0011a0019a0020 | a0011c0040a0011c0104a0019c0096others(1): Show | a0011c0040t0001a0011c0104t0002a0019c0096t0015others(1): Show | a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 others(2): Show |
5 | 292 | 0.0171 | -6 | c.107 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45438256 | ACACACT | A | intron_variant | MODIFIER | HG01258.hp2 HG01346.hp2 HG02451.hp2 |
a0001 | a0001c0003a0001c0098 | a0001c0003t0001a0001c0098t0001 | a0001c0003t0001g0110 a0001c0003t0001g0287 a0001c0098t0001g0007 |
3 | 292 | 0.0103 | -6 | c.107 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45474552 | CTCTGTG | C | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02895.hp1 others(1): Show |
a0004a0013a0014 | a0004c0100a0013c0102a0014c0039 | a0004c0100t0001a0013c0102t0004a0014c0039t0009 | a0004c0100t0001g0039 a0013c0102t0004g0196 a0014c0039t0009g0197 others(1): Show |
4 | 292 | 0.0137 | -6 | c.738 others(21): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 4/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45476921 | TTGTGTG | T | intron_variant | MODIFIER | HG01891.hp1 HG02135.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0003a0001c0019a0001c0032 | a0001c0003t0001a0001c0003t0008a0001c0019t0003others(1): Show | a0001c0003t0001g0181 a0001c0003t0001g0289 a0001c0003t0008g0166 others(4): Show |
7 | 292 | 0.0240 | -6 | c.929 others(21): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 6/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500691 | GGTGTGT | G | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG03041.hp1 others(3): Show |
a0002a0009a0012others(1): Show | a0002c0020a0002c0021a0009c0016others(2): Show | a0002c0020t0001a0002c0021t0002a0009c0016t0001others(2): Show | a0002c0020t0001g0011 a0002c0021t0002g0148 a0002c0021t0002g0186 others(3): Show |
6 | 292 | 0.0206 | -6 | c.268 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500915 | GGTGTGT | G | intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
a0001a0005a0030 | a0001c0001a0001c0037a0005c0060others(1): Show | a0001c0001t0001a0001c0037t0001a0005c0060t0001others(1): Show | a0001c0001t0001g0191 a0001c0037t0001g0062 a0001c0037t0001g0157 others(2): Show |
5 | 292 | 0.0171 | -6 | c.268 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45503788 | ATAAATT | A | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0054 | a0001c0001t0001a0001c0054t0002 | a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0192 others(1): Show |
4 | 292 | 0.0137 | -6 | c.268 others(23): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69897458 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01175.hp1 others(25): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0022a0001c0002t0001others(16): Show | a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0180 others(25): Show |
28 | 182 | 0.1539 | -6 | c.92- others(21): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69942740 | ATGTGTG | A | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0002 | a0002c0004a0002c0006a0002c0009 | a0002c0004t0001a0002c0006t0003a0002c0009t0004 | a0002c0004t0001g0161 a0002c0006t0003g0065 a0002c0006t0003g0066 others(1): Show |
4 | 182 | 0.0220 | -6 | c.936 others(23): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 9/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69950674 | CCACACA | C | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG02622.hp1 others(5): Show |
a0001a0002a0010 | a0001c0001a0001c0012a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0012t0001others(4): Show | a0001c0001t0001g0166 a0001c0001t0006g0107 a0001c0012t0001g0056 others(5): Show |
8 | 182 | 0.0440 | -6 | c.937 others(23): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 9/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69955522 | AGTGTGT | A | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
a0002a0006 | a0002c0003a0002c0004a0002c0006others(2): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0031others(5): Show | a0002c0003t0002g0100 a0002c0003t0002g0103 a0002c0003t0008g0002 others(10): Show |
13 | 182 | 0.0714 | -6 | c.937 others(23): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 9/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |