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 | 134760653 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp2 others(59): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(45): Show | a0001c0001t0001g0125 a0001c0001t0005g0119 a0001c0002t0001g0144 others(58): Show |
62 | 272 | 0.2279 | 8 | c.193 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134783893 | G | GTCCTTTT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02155.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0003g0146 a0001c0001t0009g0233 a0001c0001t0010g0098 others(4): Show |
7 | 272 | 0.0257 | 8 | c.248 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 29/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134790605 | C | CCCACCCA others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02647.hp2 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0006a0001c0005t0014a0001c0007t0023 | a0001c0005t0006g0040 a0001c0005t0014g0258 a0001c0007t0023g0232 |
3 | 272 | 0.0110 | 8 | c.270 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134790605 | C | CCCATCCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01071.hp2 others(18): Show |
a0001a0012a0013 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(17): Show | a0001c0001t0002g0079 a0001c0001t0007g0215 a0001c0001t0008g0260 others(18): Show |
21 | 272 | 0.0772 | 8 | c.270 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134792787 | G | GTGCGTGC others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0003a0001c0064 | a0001c0003t0003a0001c0003t0004a0001c0003t0010others(1): Show | a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0010g0039 others(2): Show |
5 | 272 | 0.0184 | 8 | c.270 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189072765 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01106.hp2 HG01516.hp1 others(19): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0020others(2): Show | a0001c0001t0001g0030 a0001c0002t0002g0016 a0001c0002t0002g0020 others(19): Show |
22 | 248 | 0.0887 | 8 | c.110 others(25): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 17/53 | chr2 | TogoVar | |||||||
COL5A2_chr2_189026898_189184761 | 189094588 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG04228.hp1 NA18969.hp2 others(4): Show |
a0001a0002a0015 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0030 a0001c0001t0003g0186 a0001c0002t0002g0036 others(4): Show |
7 | 248 | 0.0282 | 8 | c.457 others(25): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9977947 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01257.hp2 others(8): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0003a0001c0024others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0306 a0001c0001t0001g0325 a0001c0003t0001g0302 others(8): Show |
11 | 412 | 0.0267 | 8 | c.301 others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 41/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9983529 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18956.hp2 NA18959.hp1 others(1): Show |
a0001a0020a0027 | a0001c0001a0020c0028a0027c0060 | a0001c0001t0001a0020c0028t0001a0027c0060t0015 | a0001c0001t0001g0085 a0001c0001t0001g0089 a0020c0028t0001g0259 others(1): Show |
4 | 412 | 0.0097 | 8 | c.240 others(27): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9988851 | A | AAAAGAGA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01106.hp2 others(17): Show |
a0001a0007a0013others(5): Show | a0001c0033a0001c0045a0001c0089others(9): Show | a0001c0033t0002a0001c0045t0001a0001c0045t0002others(11): Show | a0001c0033t0002g0153 a0001c0045t0001g0140 a0001c0045t0002g0032 others(17): Show |
20 | 412 | 0.0485 | 8 | c.214 others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 27/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9994559 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01346.hp2 HG01884.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0322 a0001c0001t0001g0329 a0001c0001t0001g0352 others(8): Show |
11 | 412 | 0.0267 | 8 | c.158 others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 16/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9999040 | T | TTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0016a0001c0024others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0016t0001others(68): Show | a0001c0001t0001g0150 a0001c0001t0001g0219 a0001c0001t0001g0320 others(132): Show |
137 | 412 | 0.3325 | 8 | c.111 others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 8/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9999136 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01516.hp2 others(27): Show |
a0001a0003a0005others(18): Show | a0001c0001a0001c0033a0003c0011others(21): Show | a0001c0001t0001a0001c0033t0011a0003c0011t0006others(22): Show | a0001c0001t0001g0266 a0001c0033t0011g0154 a0001c0033t0011g0168 others(27): Show |
30 | 412 | 0.0728 | 8 | c.111 others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 8/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 10000452 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG01069.hp2 others(7): Show |
a0001a0002a0009others(5): Show | a0001c0001a0002c0083a0009c0007others(6): Show | a0001c0001t0001a0002c0083t0005a0009c0007t0001others(6): Show | a0001c0001t0001g0243 a0001c0001t0001g0244 a0002c0083t0005g0156 others(7): Show |
10 | 412 | 0.0243 | 8 | c.111 others(27): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 8/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45979539 | T | TGTGTGTC others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(105): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0010others(28): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(41): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(105): Show |
108 | 128 | 0.8438 | 8 | c.-23 others(19): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 2230 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45980795 | C | CTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01361.hp2 HG01978.hp1 |
a0001a0006 | a0001c0035a0006c0011 | a0001c0035t0002a0006c0011t0002 | a0001c0035t0002g0010 a0006c0011t0002g0097 a0006c0011t0002g0110 |
3 | 128 | 0.0234 | 8 | c.-10 others(19): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 974 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45980817 | C | CTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp2 others(32): Show |
a0001a0003a0007others(5): Show | a0001c0001a0001c0003a0001c0009others(8): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(11): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(32): Show |
35 | 128 | 0.2734 | 8 | c.-10 others(19): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 952 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45988117 | G | GGGGACGG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01496.hp2 others(4): Show |
a0001a0002a0017 | a0001c0003a0002c0002a0002c0008others(1): Show | a0001c0003t0003a0001c0003t0006a0002c0002t0004others(2): Show | a0001c0003t0003g0026 a0001c0003t0006g0024 a0002c0002t0004g0021 others(4): Show |
7 | 128 | 0.0547 | 8 | c.804 others(23): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46099889 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp1 others(74): Show |
a0001a0006 | a0001c0001a0001c0005a0001c0009others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(69): Show |
77 | 372 | 0.2070 | 8 | c.-28 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46116926 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02976.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0028 | a0001c0001t0001a0001c0006t0006a0001c0028t0006 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0006t0006g0248 others(1): Show |
4 | 372 | 0.0108 | 8 | c.999 others(23): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46123700 | G | GATGGATG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(34): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(52): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(282): Show |
314 | 372 | 0.8441 | 8 | c.167 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46123824 | A | ATGGGTGG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(102): Show |
a0001a0003a0008 | a0001c0002a0001c0013a0001c0014others(9): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0010others(17): Show | a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 others(85): Show |
105 | 372 | 0.2823 | 8 | c.167 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46099889 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp1 others(72): Show |
a0001a0013 | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(70): Show |
75 | 364 | 0.2060 | 8 | c.-28 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46116926 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02976.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0047 | a0001c0001t0001a0001c0007t0003a0001c0047t0001 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0007t0003g0246 others(1): Show |
4 | 364 | 0.0110 | 8 | c.999 others(23): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46123700 | G | GATGGATG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(55): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(70): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(281): Show |
305 | 364 | 0.8379 | 8 | c.167 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46123824 | A | ATGGGTGG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(100): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0023a0001c0024others(12): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(19): Show | a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 others(87): Show |
103 | 364 | 0.2830 | 8 | c.167 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237326244 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01169.hp2 others(9): Show |
a0001a0002a0021others(2): Show | a0001c0002a0001c0004a0001c0014others(4): Show | a0001c0002t0002a0001c0004t0002a0001c0014t0002others(4): Show | a0001c0002t0002g0043 a0001c0002t0002g0201 a0001c0002t0002g0203 others(9): Show |
12 | 322 | 0.0373 | 8 | c.932 others(25): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237332070 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02630.hp1 HG02738.hp1 others(3): Show |
a0002a0022 | a0002c0001a0022c0044 | a0002c0001t0001a0002c0001t0002a0022c0044t0002 | a0002c0001t0001g0030 a0002c0001t0001g0244 a0002c0001t0001g0254 others(3): Show |
6 | 322 | 0.0186 | 8 | c.932 others(27): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237332117 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01496.hp2 HG02257.hp2 others(5): Show |
a0003a0004a0008others(5): Show | a0003c0028a0004c0016a0008c0010others(5): Show | a0003c0028t0004a0004c0016t0003a0008c0010t0001others(5): Show | a0003c0028t0004g0184 a0004c0016t0003g0095 a0008c0010t0001g0293 others(5): Show |
8 | 322 | 0.0248 | 8 | c.932 others(27): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237397017 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(119): Show |
a0001a0002a0003others(34): Show | a0001c0002a0001c0004a0001c0014others(64): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(82): Show | a0001c0002t0001g0150 a0001c0002t0001g0287 a0001c0002t0002g0039 others(118): Show |
122 | 322 | 0.3789 | 8 | c.-30 others(23): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1/43 | chr2 | TogoVar | |||||||
COL6A5_chr3_130340672_130489846 | 130368546 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
a0016 | a0016c0017 | a0016c0017t0003 | a0016c0017t0003g0277 a0016c0017t0003g0278 a0016c0017t0003g0279 |
3 | 292 | 0.0103 | 8 | c.-28 others(25): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130388343 | T | TATGCATG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00621.hp1 others(93): Show |
a0002a0003a0007others(38): Show | a0002c0002a0002c0034a0002c0047others(44): Show | a0002c0002t0001a0002c0002t0002a0002c0034t0001others(53): Show | a0002c0002t0001g0004 a0002c0002t0001g0103 a0002c0002t0001g0110 others(90): Show |
96 | 292 | 0.3288 | 8 | c.186 others(25): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130420144 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(90): Show |
a0001a0004a0006others(16): Show | a0001c0001a0001c0014a0001c0040others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0002g0010 others(86): Show |
93 | 292 | 0.3185 | 8 | c.495 others(26): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130439339 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01361.hp2 NA18989.hp2 |
a0013a0014 | a0013c0016a0014c0013 | a0013c0016t0010a0014c0013t0001 | a0013c0016t0010g0014 a0013c0016t0010g0015 a0014c0013t0001g0143 |
3 | 292 | 0.0103 | 8 | c.573 others(25): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130472832 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01358.hp1 others(12): Show |
a0001a0006a0028others(4): Show | a0001c0001a0001c0014a0001c0040others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0002others(8): Show | a0001c0001t0001g0186 a0001c0001t0002g0220 a0001c0001t0002g0243 others(12): Show |
15 | 292 | 0.0514 | 8 | c.781 others(25): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130514291 | T | TATGGCAG others(1): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 HG01361.hp1 HG02738.hp2 others(11): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0004a0003c0022others(6): Show | a0001c0001t0010a0003c0004t0009a0003c0004t0010others(7): Show | a0001c0001t0010g0255 a0003c0004t0009g0247 a0003c0004t0009g0254 others(11): Show |
14 | 264 | 0.0530 | 8 | c.-31 others(19): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2885 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130642243 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(10): Show |
a0002a0004a0006others(2): Show | a0002c0049a0004c0013a0004c0071others(5): Show | a0002c0049t0003a0004c0013t0003a0004c0013t0005others(8): Show | a0002c0049t0003g0189 a0004c0013t0003g0262 a0004c0013t0005g0044 others(10): Show |
13 | 264 | 0.0492 | 8 | c.515 others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130673220 | A | AAAAAAAC others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(19): Show |
a0002a0004a0005others(6): Show | a0002c0002a0004c0013a0005c0003others(8): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(12): Show | a0002c0002t0001g0013 a0002c0002t0001g0124 a0002c0002t0002g0041 others(18): Show |
22 | 264 | 0.0833 | 8 | c.659 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99633643 | G | GTGGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0009 | a0001c0001t0003g0203 a0001c0001t0006g0207 a0001c0001t0006g0210 others(2): Show |
5 | 262 | 0.0191 | 8 | c.-51 others(19): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4950 | chr3 | TogoVar | |||||||
COL8A1_chr3_99633594_99804217 | 99723003 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0023 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 others(2): Show |
5 | 262 | 0.0191 | 8 | c.-12 others(29): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A2_chr1_36090239_36130222 | 36100887 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03130.hp2 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0003t0002others(1): Show | a0001c0001t0002g0029 a0001c0001t0002g0039 a0001c0001t0003g0334 others(3): Show |
6 | 390 | 0.0154 | 8 | c.-16 others(23): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
COL8A2_chr1_36090239_36130222 | 36120777 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02280.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002a0001c0006t0006 | a0001c0001t0001g0333 a0001c0006t0002g0327 a0001c0006t0002g0330 others(2): Show |
5 | 390 | 0.0128 | 8 | c.-62 others(25): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70215912 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02735.hp1 HG02896.hp1 |
a0001a0002a0010 | a0001c0012a0002c0002a0010c0021 | a0001c0012t0001a0002c0002t0001a0010c0021t0001 | a0001c0012t0001g0120 a0002c0002t0001g0118 a0010c0021t0001g0215 |
3 | 362 | 0.0083 | 8 | c.*98 others(17): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 213 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70234257 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02897.hp1 |
a0008 | a0008c0015 | a0008c0015t0003 | a0008c0015t0003g0002 | 3 | 362 | 0.0083 | 8 | c.231 others(25): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 35/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70273941 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01255.hp2 HG02109.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0008a0004c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0002c0008t0005others(5): Show | a0001c0001t0002g0327 a0001c0001t0003g0012 a0002c0008t0005g0332 others(18): Show |
22 | 362 | 0.0608 | 8 | c.106 others(24): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 12/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70279352 | T | TTTAGATA others(1): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02976.hp2 HG03098.hp2 |
a0005 | a0005c0005 | a0005c0005t0002a0005c0005t0003a0005c0005t0006 | a0005c0005t0002g0248 a0005c0005t0003g0247 a0005c0005t0006g0345 |
3 | 362 | 0.0083 | 8 | c.975 others(25): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 10/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70279648 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG00733.hp1 others(54): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0003others(1): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0002others(4): Show | a0002c0002t0001g0005 a0002c0002t0001g0025 a0002c0002t0001g0048 others(53): Show |
57 | 362 | 0.1575 | 8 | c.975 others(25): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 10/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70293631 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03139.hp1 HG03834.hp1 others(2): Show |
a0001a0004a0005 | a0001c0001a0004c0007a0005c0005 | a0001c0001t0004a0004c0007t0001a0004c0007t0007others(1): Show | a0001c0001t0004g0257 a0004c0007t0001g0021 a0004c0007t0007g0348 others(2): Show |
5 | 362 | 0.0138 | 8 | c.696 others(23): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 5/37 | chr6 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069605 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02132.hp2 NA18968.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 others(3): Show |
6 | 388 | 0.0155 | 8 | c.148 others(25): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119070446 | G | GCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG02015.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 others(14): Show |
19 | 388 | 0.0490 | 8 | c.148 others(25): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |