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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A1_chr13_110143963_110312157 | 110147397 | CTGGAGGG others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02451.hp2 others(1): Show |
a0002a0003 | a0002c0030a0003c0089a0003c0099 | a0002c0030t0003a0003c0089t0003a0003c0099t0003 | a0002c0030t0003g0188a0002c0030t0003g0255a0003c0089t0003g0253others(1): Show | 4 | 344 | 0.0116 | -11 | c.*29 others(22): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1565 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110238593 | TTTCCCAA others(4): Show |
T | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 344 | 0.0029 | -11 | c.144 others(28): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110295258 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(32): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(39): Show | a0001c0001t0001g0047a0001c0001t0001g0082a0001c0003t0001g0074others(55): Show | 58 | 344 | 0.1686 | -11 | c.84+ others(28): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385698 | TGTGGATA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0153a0001c0001t0002g0306a0001c0001t0002g0338others(37): Show | 40 | 372 | 0.1075 | -11 | c.180 others(30): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193935 | TAAGGAGA others(4): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0004 | a0002c0004t0025 | a0002c0004t0025g0059 | 1 | 344 | 0.0029 | -11 | c.87+ others(28): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227222168 | TAATGATA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0312 | 1 | 344 | 0.0029 | -11 | c.88- others(28): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227271461 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG02071.hp2 others(19): Show |
a0002a0007 | a0002c0004a0007c0006 | a0002c0004t0013a0007c0006t0005 | a0002c0004t0013g0067a0002c0004t0013g0339a0002c0004t0013g0340others(19): Show | 22 | 344 | 0.0640 | -11 | c.175 others(28): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 25/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227291569 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0020 | a0020c0050 | a0020c0050t0011 | a0020c0050t0011g0061 | 1 | 344 | 0.0029 | -11 | c.321 others(28): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 37/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227314998 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0179 | 1 | 344 | 0.0029 | -11 | c.*31 others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 207 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041709 | AAGGAAGG others(4): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG03139.hp1 |
a0002a0008 | a0002c0002a0008c0028 | a0002c0002t0011a0008c0028t0034 | a0002c0002t0011g0222a0008c0028t0034g0160 | 2 | 284 | 0.0070 | -11 | c.350 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041766 | GGAAGGAA others(4): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0018 | a0018c0023 | a0018c0023t0002 | a0018c0023t0002g0052 | 1 | 284 | 0.0035 | -11 | c.350 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227053543 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 284 | 0.0035 | -11 | c.286 others(30): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 31/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227065023 | GGTGCGCG others(4): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 284 | 0.0035 | -11 | c.198 others(30): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 25/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227089638 | AAGGCTTT others(4): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG01257.hp1 others(2): Show |
a0003a0037 | a0003c0003a0037c0066 | a0003c0003t0003a0037c0066t0012 | a0003c0003t0003g0004a0003c0003t0003g0093a0003c0003t0003g0099others(2): Show | 5 | 284 | 0.0176 | -11 | c.145 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 21/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108458158 | ACCAAGAT others(4): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0002t0013a0002c0009t0001 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | 269 | 0.1784 | -11 | c.81+ others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108526662 | TCTTTCTT others(4): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 269 | 0.0037 | -11 | c.82- others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134646255 | AGGGCCCT others(4): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0224 | 1 | 272 | 0.0037 | -11 | c.109 others(28): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134661673 | GAGAGTTT others(4): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0014 | a0001c0005t0014g0258 | 1 | 272 | 0.0037 | -11 | c.109 others(30): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134685595 | CCATCCAT others(4): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0002t0005a0001c0006t0047others(3): Show | a0001c0001t0002g0023a0001c0002t0005g0025a0001c0006t0047g0019others(3): Show | 6 | 272 | 0.0221 | -11 | c.110 others(28): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134685656 | TCATCCAT others(4): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02451.hp1 others(7): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0009a0001c0003t0003a0001c0003t0010others(7): Show | a0001c0001t0009g0233a0001c0003t0003g0255a0001c0003t0010g0259others(7): Show | 10 | 272 | 0.0368 | -11 | c.110 others(28): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134703627 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG02165.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0005a0001c0015 | a0001c0005t0050a0001c0005t0054a0001c0015t0001others(1): Show | a0001c0005t0050g0271a0001c0005t0054g0167a0001c0015t0001g0268others(1): Show | 4 | 272 | 0.0147 | -11 | c.654 others(28): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134828856 | TACACACA others(4): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 272 | 0.0037 | -11 | c.506 others(30): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A3_chr19_9954561_10015504 | 9964854 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02572.hp2 others(7): Show |
a0017a0027a0039others(4): Show | a0017c0026a0017c0120a0027c0054others(5): Show | a0017c0026t0002a0017c0120t0002a0027c0054t0013others(5): Show | a0017c0026t0002g0392a0017c0026t0002g0402a0017c0120t0002g0400others(7): Show | 10 | 412 | 0.0243 | -11 | c.478 others(30): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 10000452 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03927.hp2 |
a0001a0071 | a0001c0001a0071c0095 | a0001c0001t0001a0071c0095t0002 | a0001c0001t0001g0266a0071c0095t0002g0036 | 2 | 412 | 0.0049 | -11 | c.111 others(30): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 8/66 | chr19 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45981588 | CGCCCCTC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0017 | 1 | 128 | 0.0078 | -11 | c.-26 others(20): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 181 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46101847 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01123.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0003others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0125a0001c0001t0001g0126others(11): Show | 16 | 372 | 0.0430 | -11 | c.-28 others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46134385 | GGGTCAGA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0248a0001c0006t0006g0249 | 2 | 372 | 0.0054 | -11 | c.*48 others(22): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4585 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46101847 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01123.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0025others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0125a0001c0001t0001g0126others(12): Show | 16 | 364 | 0.0440 | -11 | c.-28 others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46134385 | GGGTCAGA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0246 | 1 | 364 | 0.0028 | -11 | c.*18 others(22): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1538 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46135079 | CCACAGGA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0026a0001c0044others(6): Show | a0001c0007t0003a0001c0026t0005a0001c0044t0003others(6): Show | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(20): Show | 24 | 364 | 0.0659 | -11 | c.*25 others(22): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2232 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46135586 | TCATGGTC others(4): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0249 | 1 | 364 | 0.0028 | -11 | c.*30 others(22): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2739 | chr21 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237343514 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01928.hp2 HG01934.hp2 others(5): Show |
a0002a0004a0017others(1): Show | a0002c0001a0002c0009a0004c0102others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0009t0001others(3): Show | a0002c0001t0001g0031a0002c0001t0001g0240a0002c0001t0002g0311others(5): Show | 8 | 322 | 0.0248 | -11 | c.766 others(28): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237405027 | TTATCCAG others(4): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0013 | a0013c0097 | a0013c0097t0002 | a0013c0097t0002g0107 | 1 | 322 | 0.0031 | -11 | c.-30 others(28): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1/43 | chr2 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130436657 | GTTGATCT others(4): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
a0011a0013a0014others(1): Show | a0011c0012a0013c0016a0013c0075others(2): Show | a0011c0012t0002a0013c0016t0001a0013c0016t0010others(3): Show | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | 292 | 0.0480 | -11 | c.573 others(30): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A5_chr3_130340672_130489846 | 130439340 | TGTGTGTG others(4): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(6): Show |
a0019a0023a0028 | a0019c0017a0023c0021a0028c0036 | a0019c0017t0001a0019c0017t0003a0023c0021t0006others(1): Show | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(5): Show | 9 | 292 | 0.0308 | -11 | c.573 others(28): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130527890 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG04199.hp2 |
a0004a0013 | a0004c0076a0013c0075 | a0004c0076t0002a0013c0075t0001 | a0004c0076t0002g0053a0013c0075t0001g0185 | 2 | 264 | 0.0076 | -11 | c.-32 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130590299 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0130 | 1 | 264 | 0.0038 | -11 | c.421 others(28): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636787 | TCCCCTCC others(4): Show |
T | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03831.hp2 others(2): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0002c0049others(1): Show | a0001c0001t0001a0002c0002t0007a0002c0049t0003others(1): Show | a0001c0001t0001g0188a0002c0002t0007g0228a0002c0049t0003g0189others(1): Show | 5 | 264 | 0.0189 | -11 | c.509 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636928 | TCCCCTTC others(4): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01167.hp1 others(23): Show |
a0002a0003a0005others(7): Show | a0002c0002a0003c0010a0003c0013others(11): Show | a0002c0002t0004a0003c0010t0001a0003c0013t0003others(15): Show | a0002c0002t0004g0202a0003c0010t0001g0181a0003c0013t0003g0262others(22): Show | 26 | 264 | 0.0985 | -11 | c.509 others(30): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99651200 | ATCTCATT others(4): Show |
A | intron_variant | MODIFIER | HG03209.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005a0001c0001t0014g0205 | 2 | 262 | 0.0076 | -11 | c.-12 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99786762 | AGTGTTCA others(4): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02083.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0021a0001c0001t0037others(1): Show | a0001c0001t0002g0250a0001c0001t0021g0086a0001c0001t0037g0231others(1): Show | 4 | 262 | 0.0153 | -11 | c.-3- others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL9A1_chr6_70211126_70308084 | 70293663 | ACACACAC others(4): Show |
A | intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 | 1 | 362 | 0.0028 | -11 | c.696 others(26): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 5/37 | chr6 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321121 | AATTATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0169 | 1 | 438 | 0.0023 | -11 | c.-39 others(22): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3836 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321126 | TATATATA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp2 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0002c0002t0001g0025 | 6 | 438 | 0.0137 | -11 | c.-39 others(22): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3841 | chr1 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62822600 | GGAGTCCT others(4): Show |
G | frameshift_variant | HIGH | NA19003.hp2 | a0018 | a0018c0045 | a0018c0045t0001 | a0018c0045t0001g0202 | 1 | 412 | 0.0024 | -11 | c.490 others(18): Show |
p.Val others(5): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 10/32 | 505/2497 | 490/2055 | 164/684 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
COL9A3_chr20_62812050_62846159 | 62832326 | CAGTCGCC others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00673.hp2 others(71): Show |
a0002a0003a0004others(8): Show | a0002c0008a0002c0015a0002c0020others(24): Show | a0002c0008t0001a0002c0008t0006a0002c0015t0001others(32): Show | a0002c0008t0001g0105a0002c0008t0001g0142a0002c0008t0001g0144others(64): Show | 74 | 412 | 0.1796 | -11 | c.132 others(28): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 25/31 | chr20 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069630 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02922.hp2 NA18980.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0135a0001c0001t0002g0136a0001c0001t0007g0234 | 3 | 388 | 0.0077 | -11 | c.148 others(28): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119091602 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | NA19066.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303a0001c0001t0001g0318 | 2 | 388 | 0.0052 | -11 | c.292 others(26): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3590890 | CTGGCCGG others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(136): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0014others(133): Show | 139 | 378 | 0.3677 | -11 | c.-43 others(22): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4221 | chr2 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3642218 | AGCCCAGA others(4): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 378 | 0.0027 | -11 | c.329 others(28): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 5/6 | chr2 | TogoVar |