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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C7orf50_chr7_992006_1143247 | 1128669 | A | AATCTCGG others(179): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 326 | 0.0031 | 186 | c.-1- others(201): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(179): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0015 | a0015c0087 | a0015c0087t0001 | a0015c0087t0001g0103 | 1 | 218 | 0.0046 | 186 | c.573 others(205): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(179): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0115 | a0003c0115t0006 | a0003c0115t0006g0137 | 1 | 218 | 0.0046 | 186 | c.573 others(205): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2280643 | A | ACCTTGCT others(179): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0037 | a0001c0037t0007 | a0001c0037t0007g0100 | 1 | 104 | 0.0096 | 186 | c.477 others(207): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2462271 | T | TGCGCATC others(179): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 |
a0001a0003 | a0001c0017a0003c0023 | a0001c0017t0006a0003c0023t0011 | a0001c0017t0006g0006 a0003c0023t0011g0048 |
2 | 104 | 0.0192 | 186 | c.757 others(203): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(179): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18983.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0214 a0002c0002t0003g0250 |
2 | 262 | 0.0076 | 186 | c.218 others(201): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | |||||||
CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(179): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 262 | 0.0038 | 186 | c.218 others(201): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | |||||||
CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(179): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0206 | 1 | 262 | 0.0038 | 186 | c.218 others(201): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44227084 | T | TGTGGGGG others(179): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106 | 1 | 242 | 0.0041 | 186 | c.146 others(203): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004383 | A | AGGAGTTA others(179): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 394 | 0.0025 | 186 | c.-14 others(205): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181474 | T | TACACAAC others(179): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0388 | 1 | 460 | 0.0022 | 186 | c.193 others(203): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182252 | C | CCACACAC others(179): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0370 | 1 | 460 | 0.0022 | 186 | c.193 others(203): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736017 | G | GGGCGGGG others(179): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0071 | 1 | 342 | 0.0029 | 186 | c.158 others(201): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761497 | G | GGGAAGGG others(179): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 364 | 0.0028 | 186 | c.234 others(203): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(179): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 410 | 0.0024 | 186 | c.-22 others(197): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(179): Show |
upstream_gene_variant | MODIFIER | NA18988.hp2 | a0011 | a0011c0008 | a0011c0008t0002 | a0011c0008t0002g0050 | 1 | 410 | 0.0024 | 186 | c.-22 others(197): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(179): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0107 a0001c0001t0008g0108 |
2 | 410 | 0.0049 | 186 | c.-22 others(197): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(179): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 410 | 0.0024 | 186 | c.-22 others(197): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCR6_chr6_167118096_167144141 | 167130970 | G | GGGCCCCC others(179): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0073 | 1 | 460 | 0.0022 | 186 | c.-97 others(203): Show |
CCR6 | ENSG00000112486.18 | transcript | ENST00000341935.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCR6_chr6_167118096_167144141 | 167130970 | G | GGGCCCCC others(179): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0206 | 1 | 460 | 0.0022 | 186 | c.-97 others(203): Show |
CCR6 | ENSG00000112486.18 | transcript | ENST00000341935.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCSER2_chr10_84323589_84523517 | 84501834 | A | AAAAAATA others(179): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0042 | 1 | 370 | 0.0027 | 186 | c.232 others(207): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCSER2_chr10_84323589_84523517 | 84501835 | A | AAATATAT others(179): Show |
intron_variant | MODIFIER | HG02809.hp2 NA19030.hp2 |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0046 a0003c0004t0007g0047 |
2 | 370 | 0.0054 | 186 | c.232 others(207): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
CD163L1_chr12_7349960_7449153 | 7437239 | T | TTTAAATA others(179): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0193 | 1 | 384 | 0.0026 | 186 | c.125 others(203): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 2/19 | chr12 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(179): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0005 a0001c0001t0004g0015 a0001c0001t0006g0005 others(1): Show |
10 | 442 | 0.0226 | 186 | c.*27 others(197): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(179): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 2 | 442 | 0.0045 | 186 | c.*27 others(197): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
CDC34_chr19_526760_547087 | 540459 | C | CCCCCCAC others(179): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02735.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0042 a0001c0001t0002g0120 a0001c0001t0007g0001 |
3 | 328 | 0.0092 | 186 | c.498 others(201): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884703 | T | TGATGCCG others(179): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01928.hp1 HG01928.hp2 others(1): Show |
a0001a0022 | a0001c0003a0022c0030 | a0001c0003t0002a0022c0030t0002 | a0001c0003t0002g0235 a0001c0003t0002g0239 a0001c0003t0002g0241 others(1): Show |
4 | 328 | 0.0122 | 186 | c.177 others(203): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168631576 | T | TATATATT others(179): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0077 | 1 | 176 | 0.0057 | 186 | c.465 others(201): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168631576 | T | TATATATT others(179): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 176 | 0.0057 | 186 | c.465 others(201): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168631619 | A | ATTTATAT others(179): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0151 a0001c0001t0036g0149 |
2 | 176 | 0.0114 | 186 | c.465 others(201): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168631619 | A | ATTTATAT others(179): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0091 |
2 | 176 | 0.0114 | 186 | c.465 others(201): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2435992 | C | CGAGGTGG others(179): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02080.hp1 HG02165.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0231 a0001c0002t0001g0232 a0002c0001t0001g0227 others(1): Show |
4 | 350 | 0.0114 | 186 | c.112 others(201): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28730264 | G | GAGGAGAG others(179): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG03927.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(1): Show |
4 | 384 | 0.0104 | 186 | c.319 others(203): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28730264 | G | GAGGAGAG others(179): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 384 | 0.0026 | 186 | c.319 others(203): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28730264 | G | GAGGAGAG others(179): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 384 | 0.0026 | 186 | c.319 others(203): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28730264 | G | GAGGAGAG others(179): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 384 | 0.0026 | 186 | c.319 others(203): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CHMP4A_chr14_24204615_24218488 | 24209057 | G | GAAAGCTA others(179): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 others(2): Show |
13 | 418 | 0.0311 | 186 | c.*81 others(195): Show |
CHMP4A | ENSG00000254505.11 | transcript | ENST00000347519.12 | protein_coding | 557 | chr14 | TogoVar | |||||||
CHRNA6_chr8_42747620_42773786 | 42766494 | A | AAAAGAAA others(179): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0049 | 1 | 350 | 0.0029 | 186 | c.80- others(201): Show |
CHRNA6 | ENSG00000147434.9 | transcript | ENST00000276410.7 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32154878 | C | CACCTCAC others(179): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0013 | 1 | 307 | 0.0033 | 186 | c.430 others(201): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32154878 | C | CACCTCAC others(179): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0103 | 1 | 307 | 0.0033 | 186 | c.430 others(201): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32154878 | C | CACCTCAC others(179): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01070.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0030others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 others(36): Show |
39 | 307 | 0.1270 | 186 | c.430 others(201): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098122 | T | TGTAAATA others(179): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 264 | 0.0038 | 186 | c.181 others(205): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(179): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0216 | 1 | 236 | 0.0042 | 186 | c.294 others(203): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAAGAAGG others(179): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0057 | a0001c0057t0001 | a0001c0057t0001g0051 | 1 | 344 | 0.0029 | 186 | c.85- others(203): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(179): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01123.hp2 HG01346.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(13): Show | a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0116 others(16): Show |
19 | 344 | 0.0552 | 186 | c.85- others(203): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227202846 | C | CACATATA others(179): Show |
intron_variant | MODIFIER | HG01943.hp1 HG03927.hp2 |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0007 | a0005c0005t0001g0243 a0005c0005t0007g0162 |
2 | 344 | 0.0058 | 186 | c.88- others(203): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134847649 | T | TAGTGTGC others(179): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0061 | 1 | 272 | 0.0037 | 186 | c.*53 others(197): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 2807 | chr9 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCCGC others(179): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0302 | 1 | 348 | 0.0029 | 186 | c.927 others(201): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(179): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0006others(1): Show | a0001c0001t0001g0062 a0001c0001t0001g0284 a0001c0001t0001g0285 others(4): Show |
7 | 348 | 0.0201 | 186 | c.927 others(201): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587808 | C | CCCCCGTG others(179): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 348 | 0.0029 | 186 | c.927 others(201): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |