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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL26A1_chr7_101357875_101564024 | 101387778 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0126 | 1 | 174 | 0.0058 | 21 | c.158 others(40): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114182177 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0009 | a0009c0042 | a0009c0042t0008 | a0009c0042t0008g0093 | 1 | 308 | 0.0033 | 21 | c.196 others(38): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 4/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7474070 | A | AATATATA others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG02647.hp1 others(5): Show |
a0002a0012a0019 | a0002c0002a0002c0004a0012c0016others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0003others(3): Show | a0002c0002t0001g0066a0002c0002t0002g0004a0002c0004t0003g0030others(5): Show | 8 | 196 | 0.0408 | 21 | c.130 others(38): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 15/34 | chr7 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110165570 | C | CCCTTCCA others(14): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02155.hp1 NA18747.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0044a0001c0003t0001g0054a0002c0002t0002g0331others(2): Show | 5 | 344 | 0.0145 | 21 | c.402 others(38): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 45/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252504 | T | TTATATAT others(14): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0269 | 1 | 344 | 0.0029 | 21 | c.85- others(36): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255884 | A | AAGGGGGA others(14): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0063 | 1 | 344 | 0.0029 | 21 | c.85- others(38): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255903 | A | AGGGGGGA others(14): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0295 | 1 | 344 | 0.0029 | 21 | c.85- others(38): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202763 | A | ATATATTA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01256.hp2 HG01934.hp1 others(5): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0003 | a0001c0001t0001a0003c0002t0003a0004c0003t0019 | a0001c0001t0001g0138a0001c0001t0001g0161a0003c0002t0003g0099others(5): Show | 8 | 344 | 0.0233 | 21 | c.88- others(38): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0032 | a0032c0032 | a0032c0032t0012 | a0032c0032t0012g0062 | 1 | 344 | 0.0029 | 21 | c.546 others(36): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0208 | 1 | 344 | 0.0029 | 21 | c.546 others(36): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108587292 | A | ACCATCAT others(14): Show |
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 | 21 | c.116 others(38): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134679745 | A | AGGGGCAC others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02451.hp1 others(13): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0008a0001c0001t0009a0001c0003t0003others(12): Show | a0001c0001t0008g0260a0001c0001t0009g0233a0001c0003t0003g0255others(13): Show | 16 | 272 | 0.0588 | 21 | c.110 others(40): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A2_chr2_189026898_189184761 | 189059585 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 248 | 0.0040 | 21 | c.208 others(38): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9988855 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0041 | a0041c0063 | a0041c0063t0012 | a0041c0063t0012g0190 | 1 | 412 | 0.0024 | 21 | c.214 others(38): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 27/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9988855 | A | AAAAAAAG others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(40): Show |
a0002a0006a0010others(10): Show | a0002c0002a0002c0020a0002c0034others(17): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(19): Show | a0002c0002t0001g0313a0002c0002t0001g0315a0002c0002t0002g0078others(40): Show | 43 | 412 | 0.1044 | 21 | c.214 others(38): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 27/66 | chr19 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45981632 | T | TCCCGCCC others(14): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 128 | 0.0078 | 21 | c.-21 others(30): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 137 | chr21 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237332117 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG01192.hp2 others(10): Show |
a0001a0006a0026others(2): Show | a0001c0002a0001c0004a0001c0040others(6): Show | a0001c0002t0002a0001c0002t0004a0001c0004t0002others(7): Show | a0001c0002t0002g0039a0001c0002t0002g0267a0001c0002t0002g0286others(10): Show | 13 | 322 | 0.0404 | 21 | c.932 others(40): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130348895 | G | GTTTTTGG others(14): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0047 | a0047c0084 | a0047c0084t0002 | a0047c0084t0002g0271 | 1 | 292 | 0.0034 | 21 | c.-29 others(38): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636947 | C | CCCCTCCC others(14): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0009 | a0009c0005 | a0009c0005t0004 | a0009c0005t0004g0223 | 1 | 264 | 0.0038 | 21 | c.509 others(40): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99773819 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 262 | 0.0038 | 21 | c.-3- others(38): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 262 | 0.0038 | 21 | c.-3- others(38): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0047 | 1 | 262 | 0.0038 | 21 | c.-3- others(38): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0159 | 1 | 262 | 0.0038 | 21 | c.-3- others(38): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATTATATA others(14): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 262 | 0.0038 | 21 | c.-3- others(38): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL9A1_chr6_70211126_70308084 | 70227424 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0002 | a0002c0008 | a0002c0008t0005 | a0002c0008t0005g0009 | 2 | 362 | 0.0055 | 21 | c.250 others(40): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 36/37 | chr6 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 |
a0002a0003 | a0002c0002a0003c0008 | a0002c0002t0001a0003c0008t0001 | a0002c0002t0001g0123a0003c0008t0001g0051 | 2 | 438 | 0.0046 | 21 | c.-11 others(32): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 NA20300.hp1 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0094a0008c0007t0001g0024 | 2 | 438 | 0.0046 | 21 | c.-11 others(32): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0024 | 1 | 438 | 0.0023 | 21 | c.-11 others(32): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321122 | A | AATTATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG03239.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0002c0002t0001g0029 | 2 | 438 | 0.0046 | 21 | c.-39 others(32): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825172 | G | GGCGGAGG others(14): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0010 | a0010c0028 | a0010c0028t0002 | a0010c0028t0002g0294 | 1 | 412 | 0.0024 | 21 | c.630 others(36): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082a0001c0001t0002g0083 | 2 | 388 | 0.0052 | 21 | c.148 others(38): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01981.hp2 NA18747.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094a0001c0001t0002g0095a0001c0001t0002g0245others(1): Show | 4 | 388 | 0.0103 | 21 | c.148 others(38): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18969.hp2 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120a0001c0001t0002g0250a0001c0001t0002g0251others(1): Show | 4 | 388 | 0.0103 | 21 | c.148 others(38): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3639883 | G | GCGTGGCG others(14): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02004.hp2 HG04199.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0171a0002c0003t0001g0223a0002c0003t0001g0233others(1): Show | 4 | 378 | 0.0106 | 21 | c.275 others(36): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLGALT2_chr1_183930834_184042728 | 183977835 | A | AGAGAGAG others(14): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0054 | 1 | 340 | 0.0029 | 21 | c.374 others(36): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116128853 | T | TAGATTGT others(14): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 350 | 0.0029 | 21 | c.400 others(38): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116295608 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0193 | 1 | 350 | 0.0029 | 21 | c.*31 others(32): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62014542 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 | 1 | 286 | 0.0035 | 21 | c.462 others(40): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD7_chr20_32697699_32748467 | 32714824 | A | AAACAACA others(14): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 400 | 0.0025 | 21 | c.242 others(38): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
COMP_chr19_18777773_18796305 | 18786763 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02895.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0096a0001c0006t0001g0148 | 2 | 398 | 0.0050 | 21 | c.113 others(38): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 10/18 | chr19 | TogoVar | ||||||
COMP_chr19_18777773_18796305 | 18787864 | C | CTTTTTCT others(14): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 398 | 0.0025 | 21 | c.976 others(36): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 9/18 | chr19 | TogoVar | ||||||
COMTD1_chr10_75228641_75240957 | 75232740 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 410 | 0.0220 | 21 | c.*13 others(32): Show |
COMTD1 | ENSG00000165644.11 | transcript | ENST00000372538.8 | protein_coding | 900 | chr10 | TogoVar | ||||||
COPB1_chr11_14452512_14504811 | 14477389 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 386 | 0.0026 | 21 | c.135 others(38): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 11/21 | chr11 | TogoVar | ||||||
COPS8_chr2_237080889_237105474 | 237097224 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0099 | 1 | 348 | 0.0029 | 21 | c.550 others(36): Show |
COPS8 | ENSG00000198612.11 | transcript | ENST00000354371.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COPZ1_chr12_54320131_54356846 | 54323622 | C | CTCTCTTC others(14): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 368 | 0.0027 | 21 | c.-15 others(32): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1508 | chr12 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54326124 | A | AATTATTA others(14): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01943.hp2 HG01981.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0172a0001c0001t0002g0015a0001c0001t0002g0162others(15): Show | 19 | 368 | 0.0516 | 21 | c.18+ others(34): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COQ7_chr16_19062614_19085095 | 19064374 | T | TGTGTGTG others(14): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0009 | 1 | 372 | 0.0027 | 21 | c.-32 others(32): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3239 | chr16 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98119798 | G | GTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 342 | 0.0029 | 21 | c.*49 others(32): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1176 | chr9 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98119808 | G | GTTTTTGT others(14): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 342 | 0.0029 | 21 | c.*49 others(32): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1166 | chr9 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98119808 | G | GTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0151 | 1 | 342 | 0.0029 | 21 | c.*49 others(32): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1166 | chr9 | TogoVar |