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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A4_chr2_226997714_227169205 | 227091922 | G | GAAAGA | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG04204.hp1 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0007others(1): Show | a0001c0001t0001a0004c0004t0002a0005c0007t0005others(1): Show | a0001c0001t0001g0104a0001c0001t0001g0224a0004c0004t0002g0187others(2): Show | 5 | 284 | 0.0176 | 5 | c.137 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 20/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227091948 | A | AAAGAC | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02486.hp2 others(6): Show |
a0007a0017a0038others(1): Show | a0007c0006a0007c0031a0017c0022others(2): Show | a0007c0006t0004a0007c0031t0004a0017c0022t0003others(2): Show | a0007c0006t0004g0171a0007c0006t0004g0172a0007c0006t0004g0173others(6): Show | 9 | 284 | 0.0317 | 5 | c.137 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 20/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227104414 | C | CAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG02257.hp2 HG02559.hp1 others(4): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0070a0004c0051others(3): Show | a0001c0001t0001a0001c0070t0039a0004c0051t0005others(3): Show | a0001c0001t0001g0117a0001c0001t0001g0258a0001c0070t0039g0204others(4): Show | 7 | 284 | 0.0247 | 5 | c.736 others(20): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 12/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATTT | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0218 | 1 | 269 | 0.0037 | 5 | c.81+ others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATTTTT | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 269 | 0.0037 | 5 | c.81+ others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108495403 | T | TAAATA | intron_variant | MODIFIER | NA19075.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0102 | 1 | 269 | 0.0037 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108502258 | A | AGTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01256.hp1 others(14): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0051a0001c0001t0001g0074a0001c0001t0001g0078others(14): Show | 17 | 269 | 0.0632 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526595 | C | CTCTTT | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 269 | 0.0037 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108526660 | C | CTTTCT | intron_variant | MODIFIER | HG01099.hp1 HG04184.hp1 NA18947.hp2 others(1): Show |
a0001a0009 | a0001c0001a0001c0012a0009c0015 | a0001c0001t0001a0001c0012t0001a0009c0015t0001 | a0001c0001t0001g0049a0001c0001t0001g0232a0001c0012t0001g0077others(1): Show | 4 | 269 | 0.0149 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526671 | C | CTTCTT | intron_variant | MODIFIER | HG04184.hp1 NA18966.hp1 |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0001a0009c0015t0001 | a0001c0001t0001g0049a0009c0015t0001g0103 | 2 | 269 | 0.0074 | 5 | c.82- others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108623452 | T | TTTTCC | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
a0002a0005a0011 | a0002c0002a0002c0004a0002c0009others(2): Show | a0002c0002t0001a0002c0002t0013a0002c0004t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | 269 | 0.2082 | 5 | c.291 others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108698347 | G | GTTTGT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02258.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0001g0223others(3): Show | 6 | 269 | 0.0223 | 5 | c.*19 others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 803 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108185391 | G | GAAAAA | intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 234 | 0.0043 | 5 | c.195 others(24): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 23/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108309801 | A | ACACAC | intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0001 | 1 | 234 | 0.0043 | 5 | c.144 others(20): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108376607 | A | AAAAAT | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG02055.hp1 others(33): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0001t0002g0008others(33): Show | 36 | 234 | 0.1539 | 5 | c.63+ others(22): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134669235 | T | TCCTTC | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG01071.hp2 others(54): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0088a0001c0001t0001g0212a0001c0001t0002g0069others(54): Show | 57 | 272 | 0.2096 | 5 | c.110 others(24): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134669289 | T | TCCCTC | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0019a0001c0047others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0019t0001others(2): Show | a0001c0001t0001g0033a0001c0001t0007g0215a0001c0019t0001g0214others(2): Show | 5 | 272 | 0.0184 | 5 | c.110 others(24): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134784948 | G | GTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(32): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0033a0001c0001t0001g0147a0001c0001t0002g0082others(32): Show | 35 | 272 | 0.1287 | 5 | c.248 others(20): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 29/65 | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134800749 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(69): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(42): Show | a0001c0001t0002g0023a0001c0001t0002g0069a0001c0001t0002g0079others(68): Show | 72 | 272 | 0.2647 | 5 | c.295 others(24): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 37/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A2_chr2_189026898_189184761 | 189059585 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01516.hp1 others(25): Show |
a0001a0005a0011others(1): Show | a0001c0001a0001c0002a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0030a0001c0001t0004g0081a0001c0001t0004g0149others(25): Show | 28 | 248 | 0.1129 | 5 | c.208 others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189064273 | C | CAAGTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(214): Show | 221 | 248 | 0.8911 | 5 | c.171 others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 25/53 | chr2 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189089043 | A | ATGGAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0044a0001c0001t0001g0133a0001c0001t0003g0045others(34): Show | 37 | 248 | 0.1492 | 5 | c.568 others(20): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189121736 | C | CAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01106.hp2 others(43): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0042a0001c0001t0001g0044others(43): Show | 46 | 248 | 0.1855 | 5 | c.98- others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189167944 | A | ATTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02293.hp1 NA18612.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0010t0007others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0050a0001c0001t0001g0051others(5): Show | 8 | 248 | 0.0323 | 5 | c.97+ others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9955181 | T | TAAATA | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02717.hp2 others(4): Show |
a0006a0007a0046others(1): Show | a0006c0022a0007c0032a0046c0075others(1): Show | a0006c0022t0007a0007c0032t0007a0046c0075t0007others(1): Show | a0006c0022t0007g0288a0006c0022t0007g0289a0006c0022t0007g0290others(4): Show | 7 | 412 | 0.0170 | 5 | c.*52 others(16): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 4379 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9964854 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01928.hp2 HG02074.hp2 others(3): Show |
a0001a0008 | a0001c0001a0001c0111a0008c0004 | a0001c0001t0001a0001c0111t0001a0008c0004t0001 | a0001c0001t0001g0090a0001c0001t0001g0100a0001c0001t0001g0329others(3): Show | 6 | 412 | 0.0146 | 5 | c.478 others(24): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9977985 | T | TATATA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01099.hp2 |
a0001a0007 | a0001c0001a0001c0003a0007c0023 | a0001c0001t0001a0001c0003t0001a0007c0023t0003 | a0001c0001t0001g0311a0001c0003t0001g0256a0007c0023t0003g0299 | 3 | 412 | 0.0073 | 5 | c.301 others(22): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 41/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9990392 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01069.hp2 others(51): Show |
a0001a0005a0006others(22): Show | a0001c0033a0001c0040a0001c0045others(29): Show | a0001c0033t0002a0001c0040t0005a0001c0045t0001others(31): Show | a0001c0033t0002g0153a0001c0040t0005g0127a0001c0045t0001g0140others(51): Show | 54 | 412 | 0.1311 | 5 | c.199 others(22): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 24/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9999469 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(13): Show |
a0006a0013a0034others(1): Show | a0006c0022a0013c0008a0034c0131others(1): Show | a0006c0022t0007a0006c0022t0011a0013c0008t0001others(2): Show | a0006c0022t0007g0288a0006c0022t0007g0289a0006c0022t0007g0290others(13): Show | 16 | 412 | 0.0388 | 5 | c.111 others(24): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 8/66 | chr19 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45981622 | G | GCCCCT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG03927.hp1 NA20805.hp1 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0002t0008a0002c0008t0001 | a0002c0002t0001g0055a0002c0002t0008g0051a0002c0008t0001g0077 | 3 | 128 | 0.0234 | 5 | c.-22 others(14): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 147 | chr21 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45981656 | T | TCCCGC | upstream_gene_variant | MODIFIER | HG02886.hp1 HG03239.hp2 NA18945.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0003a0001c0003t0015a0001c0012t0005 | a0001c0003t0003g0034a0001c0003t0015g0105a0001c0012t0005g0074 | 3 | 128 | 0.0234 | 5 | c.-19 others(14): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 113 | chr21 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45982165 | G | GCCGGA | intron_variant | MODIFIER | HG01255.hp2 HG01515.hp1 HG02145.hp1 others(3): Show |
a0001a0002a0013others(1): Show | a0001c0003a0002c0002a0013c0020others(1): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0008others(2): Show | a0001c0003t0001g0115a0002c0002t0001g0119a0002c0002t0008g0117others(3): Show | 6 | 128 | 0.0469 | 5 | c.97+ others(18): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46126476 | T | TGGCCC | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
a0001a0002a0008 | a0001c0006a0002c0003a0002c0034others(1): Show | a0001c0006t0008a0002c0003t0008a0002c0034t0008others(1): Show | a0001c0006t0008g0303a0002c0003t0008g0221a0002c0003t0008g0222others(6): Show | 9 | 372 | 0.0242 | 5 | c.242 others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46134349 | G | GGGGTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009a0001c0021others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0021t0001others(1): Show | a0001c0001t0001g0161a0001c0001t0001g0170a0001c0009t0001g0106others(3): Show | 6 | 372 | 0.0161 | 5 | c.*48 others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4549 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134378 | G | GGGTCA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02965.hp1 others(2): Show |
a0001a0003a0009 | a0001c0022a0001c0026a0003c0004others(1): Show | a0001c0022t0006a0001c0026t0006a0003c0004t0004others(1): Show | a0001c0022t0006g0050a0001c0026t0006g0049a0003c0004t0004g0014others(1): Show | 5 | 372 | 0.0134 | 5 | c.*48 others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4578 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46126476 | T | TGGCCC | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
a0001a0002a0013 | a0001c0007a0002c0003a0002c0013others(3): Show | a0001c0007t0001a0002c0003t0001a0002c0013t0001others(3): Show | a0001c0007t0001g0302a0002c0003t0001g0222a0002c0003t0001g0223others(6): Show | 9 | 364 | 0.0247 | 5 | c.242 others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46134349 | G | GGGGTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0159a0001c0006t0001g0167a0001c0011t0001g0106others(3): Show | 6 | 364 | 0.0165 | 5 | c.*17 others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1502 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134378 | G | GGGTCA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02965.hp1 others(2): Show |
a0001a0004a0014 | a0001c0035a0001c0045a0004c0005others(1): Show | a0001c0035t0001a0001c0045t0001a0004c0005t0004others(1): Show | a0001c0035t0001g0052a0001c0045t0001g0051a0004c0005t0004g0238others(2): Show | 5 | 364 | 0.0137 | 5 | c.*18 others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1531 | chr21 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237397139 | A | AGAAGG | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01167.hp1 others(34): Show |
a0003a0009a0010others(19): Show | a0003c0039a0009c0126a0010c0018others(21): Show | a0003c0039t0001a0003c0039t0003a0009c0126t0004others(26): Show | a0003c0039t0001g0176a0003c0039t0003g0163a0009c0126t0004g0179others(34): Show | 37 | 322 | 0.1149 | 5 | c.-30 others(20): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1/43 | chr2 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237415315 | A | AAGAAG | upstream_gene_variant | MODIFIER | HG02280.hp1 HG03139.hp2 HG03492.hp1 others(1): Show |
a0002a0009a0018others(1): Show | a0002c0001a0009c0042a0018c0020others(1): Show | a0002c0001t0002a0009c0042t0004a0018c0020t0001others(1): Show | a0002c0001t0002g0312a0009c0042t0004g0170a0018c0020t0001g0307others(1): Show | 4 | 322 | 0.0124 | 5 | c.-13 others(16): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1152 | chr2 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237415362 | A | AAAAAG | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02280.hp1 others(5): Show |
a0009a0013a0058others(2): Show | a0009c0041a0009c0042a0013c0034others(3): Show | a0009c0041t0002a0009c0042t0004a0013c0034t0005others(3): Show | a0009c0041t0002g0236a0009c0041t0002g0303a0009c0042t0004g0170others(5): Show | 8 | 322 | 0.0248 | 5 | c.-14 others(16): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1199 | chr2 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130365269 | A | ATGTTT | intron_variant | MODIFIER | HG02080.hp1 HG02280.hp2 HG02647.hp1 others(1): Show |
a0001a0037a0071others(1): Show | a0001c0014a0037c0032a0071c0071others(1): Show | a0001c0014t0002a0037c0032t0001a0071c0071t0001others(1): Show | a0001c0014t0002g0255a0037c0032t0001g0181a0071c0071t0001g0180others(1): Show | 4 | 292 | 0.0137 | 5 | c.-28 others(22): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130590297 | A | ATTTTT | intron_variant | MODIFIER | HG03239.hp1 HG03579.hp2 NA18983.hp1 |
a0002a0003 | a0002c0002a0003c0061 | a0002c0002t0002a0002c0002t0003a0003c0061t0015 | a0002c0002t0002g0074a0002c0002t0003g0004a0003c0061t0015g0196 | 3 | 264 | 0.0114 | 5 | c.421 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636928 | T | TTCCTC | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0003c0010others(25): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(41): Show | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(55): Show | 58 | 264 | 0.2197 | 5 | c.509 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130639250 | A | ATCTTC | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
a0001a0002a0003others(22): Show | a0001c0001a0002c0002a0003c0010others(44): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(87): Show | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | 264 | 0.5227 | 5 | c.509 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130650753 | C | CTCTTA | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(92): Show |
a0002a0003a0005others(21): Show | a0002c0002a0003c0010a0003c0013others(43): Show | a0002c0002t0004a0003c0010t0004a0003c0013t0003others(73): Show | a0002c0002t0004g0202a0003c0010t0004g0222a0003c0013t0003g0262others(90): Show | 95 | 264 | 0.3599 | 5 | c.573 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130680863 | A | ATAAAG | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02109.hp2 others(9): Show |
a0002a0003a0006others(5): Show | a0002c0002a0003c0023a0006c0007others(5): Show | a0002c0002t0004a0003c0023t0007a0006c0007t0003others(8): Show | a0002c0002t0004g0219a0003c0023t0007g0211a0006c0007t0003g0182others(9): Show | 12 | 264 | 0.0455 | 5 | c.*54 others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3822 | chr3 | TogoVar | ||||||
COL8A2_chr1_36090239_36130222 | 36090679 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01361.hp1 others(23): Show |
a0001a0003a0008 | a0001c0001a0003c0005a0008c0014 | a0001c0001t0001a0001c0001t0008a0003c0005t0001others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0085a0001c0001t0001g0110others(23): Show | 26 | 390 | 0.0667 | 5 | c.*68 others(16): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 4559 | chr1 | TogoVar | ||||||
COL8A2_chr1_36090239_36130222 | 36100887 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG02602.hp1 NA18747.hp1 others(6): Show |
a0001a0002 | a0001c0020a0002c0003 | a0001c0020t0010a0002c0003t0002a0002c0003t0010others(1): Show | a0001c0020t0010g0045a0002c0003t0002g0031a0002c0003t0002g0033others(6): Show | 9 | 390 | 0.0231 | 5 | c.-16 others(20): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
COL8A2_chr1_36090239_36130222 | 36105966 | A | AGAGAG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(56): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0008a0004c0009others(1): Show | a0001c0002t0002a0001c0002t0006a0003c0008t0002others(2): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0008others(41): Show | 59 | 390 | 0.1513 | 5 | c.-16 others(22): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 2/3 | chr1 | TogoVar |