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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL5A3_chr19_9954561_10015504 | 9977947 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01081.hp1 others(32): Show |
a0005a0007a0009others(6): Show | a0005c0029a0007c0021a0007c0032others(13): Show | a0005c0029t0001a0007c0021t0008a0007c0032t0007others(18): Show | a0005c0029t0001g0262 a0007c0021t0008g0002 a0007c0021t0008g0393 others(31): Show |
35 | 412 | 0.0850 | -10 | c.301 others(27): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 41/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9983584 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01123.hp2 others(12): Show |
a0002a0003a0011others(7): Show | a0002c0041a0003c0009a0003c0011others(8): Show | a0002c0041t0002a0003c0009t0003a0003c0011t0003others(9): Show | a0002c0041t0002g0026 a0003c0009t0003g0327 a0003c0011t0003g0142 others(12): Show |
15 | 412 | 0.0364 | -10 | c.240 others(29): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9994559 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01981.hp1 HG01981.hp2 others(11): Show |
a0003a0005a0006others(4): Show | a0003c0009a0003c0011a0005c0029others(6): Show | a0003c0009t0003a0003c0011t0009a0005c0029t0001others(6): Show | a0003c0009t0003g0307 a0003c0009t0003g0327 a0003c0009t0003g0349 others(11): Show |
14 | 412 | 0.0340 | -10 | c.158 others(27): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 16/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 10009161 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG02055.hp2 NA18522.hp2 |
a0002a0026a0056 | a0002c0002a0026c0056a0056c0121 | a0002c0002t0002a0026c0056t0002a0056c0121t0001 | a0002c0002t0002g0408 a0026c0056t0002g0407 a0056c0121t0001g0406 |
3 | 412 | 0.0073 | -10 | c.88+ others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 1/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45978631 | TACAATCA others(3): Show |
T | upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 128 | 0.0078 | -10 | c.-32 others(21): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3138 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45980720 | GTCTCTGT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01123.hp1 HG01255.hp2 others(20): Show |
a0001a0002a0004others(3): Show | a0001c0003a0002c0002a0004c0005others(4): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0008others(7): Show | a0001c0003t0001g0115 a0002c0002t0001g0012 a0002c0002t0001g0037 others(20): Show |
23 | 128 | 0.1797 | -10 | c.-11 others(21): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1049 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981653 | CCCTCCCC others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 128 | 0.0078 | -10 | c.-19 others(19): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 116 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981675 | GCCCCTCC others(3): Show |
G | upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 128 | 0.0078 | -10 | c.-17 others(19): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 94 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46101847 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(108): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0002t0010a0001c0005t0001others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(99): Show |
111 | 372 | 0.2984 | -10 | c.-28 others(27): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134524 | GGTCAGGT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0077 | 1 | 372 | 0.0027 | -10 | c.*50 others(21): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4724 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46101847 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(104): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(99): Show |
107 | 364 | 0.2940 | -10 | c.-28 others(27): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134524 | GGTCAGGT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0079 | 1 | 364 | 0.0028 | -10 | c.*19 others(21): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1677 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46135531 | CCCACACA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 364 | 0.0028 | -10 | c.*29 others(21): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2684 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46136034 | TCCCTGTA others(3): Show |
T | downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0314 | 1 | 364 | 0.0028 | -10 | c.*34 others(21): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3187 | chr21 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237332070 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01928.hp2 HG03669.hp1 NA18947.hp1 others(1): Show |
a0003a0004a0032others(1): Show | a0003c0005a0004c0102a0032c0142others(1): Show | a0003c0005t0001a0004c0102t0003a0032c0142t0002others(1): Show | a0003c0005t0001g0317 a0004c0102t0003g0028 a0032c0142t0002g0232 others(1): Show |
4 | 322 | 0.0124 | -10 | c.932 others(29): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237343514 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01256.hp2 NA18947.hp1 |
a0002a0032 | a0002c0109a0032c0142 | a0002c0109t0002a0032c0142t0002 | a0002c0109t0002g0140 a0032c0142t0002g0232 |
2 | 322 | 0.0062 | -10 | c.766 others(27): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237397144 | GGAAGGGA others(3): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0013 | a0013c0097 | a0013c0097t0002 | a0013c0097t0002g0107 | 1 | 322 | 0.0031 | -10 | c.-30 others(25): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237415315 | AAGAAGAG others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp1 NA18959.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0201 a0001c0004t0001g0153 |
2 | 322 | 0.0062 | -10 | c.-14 others(21): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1152 | chr2 | TogoVar | |||||||
COL6A5_chr3_130340672_130489846 | 130362322 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0013 | a0013c0016 | a0013c0016t0010 | a0013c0016t0010g0016 | 1 | 292 | 0.0034 | -10 | c.-28 others(29): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130365269 | ATGTTTTG others(3): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 HG06807.hp1 others(1): Show |
a0006a0042a0043 | a0006c0005a0042c0103a0043c0104 | a0006c0005t0002a0042c0103t0002a0043c0104t0002 | a0006c0005t0002g0008 a0042c0103t0002g0091 a0043c0104t0002g0092 |
4 | 292 | 0.0137 | -10 | c.-28 others(27): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130439339 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00738.hp1 others(8): Show |
a0001a0040a0074others(1): Show | a0001c0001a0040c0042a0074c0106others(1): Show | a0001c0001t0002a0040c0042t0011a0074c0106t0003others(1): Show | a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 others(8): Show |
11 | 292 | 0.0377 | -10 | c.573 others(27): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130553851 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(94): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0056a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0121 others(94): Show |
97 | 264 | 0.3674 | -10 | c.-31 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590254 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0008 | a0008c0006 | a0008c0006t0003 | a0008c0006t0003g0180 | 1 | 264 | 0.0038 | -10 | c.421 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590293 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 264 | 0.0038 | -10 | c.421 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590299 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp1 | a0016 | a0016c0020 | a0016c0020t0008 | a0016c0020t0008g0145 | 1 | 264 | 0.0038 | -10 | c.421 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130642243 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02129.hp2 HG02630.hp1 HG03041.hp2 others(4): Show |
a0002a0003a0029others(2): Show | a0002c0002a0003c0010a0003c0023others(3): Show | a0002c0002t0002a0003c0010t0003a0003c0023t0003others(3): Show | a0002c0002t0002g0071 a0003c0010t0003g0006 a0003c0010t0003g0007 others(4): Show |
7 | 264 | 0.0265 | -10 | c.515 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL7A1_chr3_48559073_48600329 | 48559898 | CCACACAC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG02027.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0070 a0002c0003t0001g0020 |
3 | 236 | 0.0127 | -10 | c.*44 others(21): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 4174 | chr3 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70220389 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 362 | 0.0028 | -10 | c.258 others(29): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 37/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70293631 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp2 HG03209.hp2 others(3): Show |
a0002a0003a0011 | a0002c0002a0002c0004a0003c0003others(1): Show | a0002c0002t0001a0002c0004t0002a0003c0003t0001others(2): Show | a0002c0002t0001g0243 a0002c0004t0002g0295 a0003c0003t0001g0328 others(3): Show |
6 | 362 | 0.0166 | -10 | c.696 others(25): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 5/37 | chr6 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321122 | ATTATATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01255.hp1 NA18961.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0074 a0002c0002t0001g0005 others(1): Show |
4 | 438 | 0.0091 | -10 | c.-39 others(21): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069629 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008 | a0001c0001t0005g0228 a0001c0001t0007g0010 a0001c0001t0007g0217 others(2): Show |
6 | 388 | 0.0155 | -10 | c.148 others(27): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119070437 | TTCTCCCT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00609.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0018 a0001c0001t0003g0001 a0001c0001t0003g0003 others(42): Show |
51 | 388 | 0.1314 | -10 | c.148 others(27): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119078990 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02622.hp1 HG02717.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011 | a0001c0001t0002g0185 a0001c0001t0003g0019 a0001c0001t0003g0021 others(10): Show |
13 | 388 | 0.0335 | -10 | c.149 others(29): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119085573 | TTTCTTTC others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01074.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 others(16): Show |
19 | 388 | 0.0490 | -10 | c.149 others(27): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119091597 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp1 HG01358.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0146 a0001c0001t0001g0268 a0001c0001t0001g0269 others(12): Show |
15 | 388 | 0.0387 | -10 | c.292 others(25): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3600729 | TAGACCTC others(3): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 378 | 0.0027 | -10 | c.-26 others(27): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 315232 | TCACACAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03130.hp1 NA19087.hp2 |
a0001a0004 | a0001c0003a0004c0006 | a0001c0003t0006a0004c0006t0128a0004c0006t0130 | a0001c0003t0006g0277 a0004c0006t0128g0128 a0004c0006t0130g0193 |
3 | 366 | 0.0082 | -10 | c.*48 others(21): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1504 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 319321 | TAAAAAAA others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01884.hp1 HG02109.hp2 |
a0002a0003 | a0002c0001a0003c0002 | a0002c0001t0203a0003c0002t0204a0003c0002t0205 | a0002c0001t0203g0179 a0003c0002t0204g0007 a0003c0002t0205g0335 |
3 | 366 | 0.0082 | -10 | c.*71 others(19): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 714 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319333 | AAAAAAAA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02055.hp1 HG02622.hp2 |
a0001 | a0001c0005 | a0001c0005t0220a0001c0005t0221a0001c0005t0255 | a0001c0005t0220g0340 a0001c0005t0221g0028 a0001c0005t0255g0358 |
3 | 366 | 0.0082 | -10 | c.*70 others(19): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 702 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319335 | AAAAAAAA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0004 | a0001c0004t0239 | a0001c0004t0239g0326 | 1 | 366 | 0.0027 | -10 | c.*70 others(19): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 700 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 415490 | TCTGCACC others(3): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0003 | a0003c0002 | a0003c0002t0127 | a0003c0002t0127g0163 | 1 | 366 | 0.0027 | -10 | c.59- others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 419145 | ATACTTCT others(3): Show |
A | intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0001 | a0002c0001t0159 | a0002c0001t0159g0195 | 1 | 366 | 0.0027 | -10 | c.58+ others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 419148 | CTTCTATT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(60): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(7): Show | a0001c0003t0002a0001c0003t0004a0001c0003t0006others(55): Show | a0001c0003t0002g0111 a0001c0003t0004g0071 a0001c0003t0004g0278 others(60): Show |
63 | 366 | 0.1721 | -10 | c.58+ others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 440368 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0004 | a0004c0006 | a0004c0006t0107a0004c0006t0108 | a0004c0006t0107g0348 a0004c0006t0108g0347 |
2 | 366 | 0.0055 | -10 | c.58+ others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 442000 | TCTACACA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG03579.hp1 others(1): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0003a0001c0004t0174a0002c0001t0171others(1): Show | a0001c0003t0003g0197 a0001c0004t0174g0248 a0002c0001t0171g0064 others(1): Show |
4 | 366 | 0.0109 | -10 | c.58+ others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 442002 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00642.hp1 others(65): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0002a0001c0003t0004a0001c0003t0005others(55): Show | a0001c0003t0002g0111 a0001c0003t0002g0198 a0001c0003t0002g0199 others(65): Show |
68 | 366 | 0.1858 | -10 | c.58+ others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 460790 | TCTACCGG others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(329): Show |
a0001a0002a0003others(10): Show | a0001c0003a0001c0004a0001c0005others(23): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(257): Show | a0001c0003t0001g0302 a0001c0003t0002g0111 a0001c0003t0002g0124 others(328): Show |
332 | 366 | 0.9071 | -10 | c.58+ others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 497383 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG03239.hp1 HG04115.hp2 HG04199.hp1 |
a0003 | a0003c0002 | a0003c0002t0012a0003c0002t0102a0003c0002t0105 | a0003c0002t0012g0264 a0003c0002t0102g0263 a0003c0002t0105g0251 |
3 | 366 | 0.0082 | -10 | c.7+3 others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 183994026 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00609.hp1 others(59): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0120 a0001c0001t0001g0174 a0001c0001t0001g0208 others(59): Show |
62 | 340 | 0.1824 | -10 | c.264 others(29): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184038531 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG03209.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0328 a0001c0001t0003g0325 a0001c0001t0005g0327 others(1): Show |
4 | 340 | 0.0118 | -10 | c.-11 others(21): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 804 | chr1 | TogoVar |