| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SYDE2_chr1_85151889_85206016 | 85154442 | T | TCTGCCGC others(509): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG03209.hp1 |
a0019 | a0019c0020 | a0019c0020t0011 | a0019c0020t0011g0315a0019c0020t0011g0316 | 2 | 398 | 0.0050 | 516 | c.*43 others(527): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 2446 | chr1 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48736362 | C | CCCAGAGT others(509): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0148 | 1 | 258 | 0.0039 | 516 | c.391 others(535): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBCK_chr4_106036599_106321209 | 106108348 | A | AAAATCCT others(509): Show |
intron_variant | MODIFIER | HG03130.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0158 | 2 | 320 | 0.0063 | 516 | c.241 others(535): Show |
TBCK | ENSG00000145348.17 | transcript | ENST00000394708.7 | protein_coding | 24/25 | chr4 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1272751 | A | ACATCAGA others(509): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0383 | 1 | 392 | 0.0026 | 516 | c.228 others(533): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TEX29_chr13_111315642_111349248 | 111341250 | C | CATCATAA others(509): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0004 | a0001c0001t0008g0029a0001c0001t0008g0077a0001c0002t0004g0014others(2): Show | 9 | 416 | 0.0216 | 516 | c.239 others(533): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TEX29_chr13_111315642_111349248 | 111341342 | A | AACCCGTG others(509): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0138 | 1 | 416 | 0.0024 | 516 | c.240 others(533): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TNS1_chr2_217794791_218007995 | 217809316 | C | CATGGATG others(509): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0036 | a0036c0092 | a0036c0092t0013 | a0036c0092t0013g0206 | 1 | 244 | 0.0041 | 516 | c.527 others(533): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 30/32 | chr2 | TogoVar | ||||||
| TNS1_chr2_217794791_218007995 | 217809316 | C | CATGGATG others(509): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0020 | a0020c0034 | a0020c0034t0001 | a0020c0034t0001g0089a0020c0034t0001g0090 | 2 | 244 | 0.0082 | 516 | c.527 others(533): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 30/32 | chr2 | TogoVar | ||||||
| TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(509): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 | 1 | 272 | 0.0037 | 516 | c.*28 others(527): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(509): Show |
downstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 516 | c.*29 others(527): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
| VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(509): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0150 | 1 | 246 | 0.0041 | 516 | c.53- others(529): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46293655 | G | GAGTCAGC others(509): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 404 | 0.0025 | 516 | c.339 others(533): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46293880 | A | ACAGCCAC others(509): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 404 | 0.0025 | 516 | c.340 others(533): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46294620 | A | ACAGCCAC others(509): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0321 | 1 | 404 | 0.0025 | 516 | c.340 others(533): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(509): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 404 | 0.0025 | 516 | c.340 others(533): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ZFP42_chr4_187990771_188010046 | 187992046 | G | GGGGAGAG others(509): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA18940.hp1 NA18967.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024a0001c0001t0002g0046a0001c0001t0002g0112 | 5 | 448 | 0.0112 | 516 | c.-41 others(527): Show |
ZFP42 | ENSG00000179059.10 | transcript | ENST00000326866.5 | protein_coding | 3724 | chr4 | TogoVar | ||||||
| ZFPM1_chr16_88448280_88542031 | 88461014 | G | GCGGGAGG others(509): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0014 | a0001c0014t0052 | a0001c0014t0052g0186 | 1 | 318 | 0.0031 | 516 | c.40+ others(531): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | chr16 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(509): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 2 | 350 | 0.0057 | 516 | c.-36 others(527): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370977 | T | TCATATGT others(509): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0067 | 1 | 350 | 0.0029 | 516 | c.-34 others(527): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3391 | chr10 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370997 | A | ATACGTAT others(509): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002a0001c0001t0003g0103 | 2 | 350 | 0.0057 | 516 | c.-34 others(527): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3371 | chr10 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(509): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0042 | a0001c0042t0103 | a0001c0042t0103g0126 | 1 | 346 | 0.0029 | 516 | c.181 others(537): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(510): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0004 | a0004c0016 | a0004c0016t0002 | a0004c0016t0002g0230 | 1 | 276 | 0.0036 | 517 | c.535 others(534): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
| ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(510): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0216 | 1 | 352 | 0.0028 | 517 | c.*51 others(528): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | ||||||
| ADPRHL1_chr13_113394611_113458488 | 113419014 | T | TCCTCCCT others(510): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0003 | a0003c0003t0093 | a0003c0003t0093g0248 | 1 | 262 | 0.0038 | 517 | c.106 others(536): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251784 | A | AAGGAAGG others(510): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01192.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0002g0011a0001c0001t0006g0008a0001c0001t0006g0009others(3): Show | 6 | 242 | 0.0248 | 517 | c.927 others(534): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(510): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 246 | 0.0041 | 517 | c.298 others(534): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1825136 | C | CCACCTGT others(510): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0140 | 1 | 363 | 0.0028 | 517 | c.-48 others(534): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ASAP1_chr8_130047104_130448674 | 130049744 | G | GGGGGCAG others(510): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 308 | 0.0033 | 517 | c.*49 others(528): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2359 | chr8 | TogoVar | ||||||
| ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(510): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0205 | 1 | 210 | 0.0048 | 517 | c.273 others(534): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83022312 | G | GAGCTTAG others(510): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0024 | a0003c0024t0010 | a0003c0024t0010g0151 | 1 | 266 | 0.0038 | 517 | c.298 others(534): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83023271 | C | CCCCACCT others(510): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01934.hp1 HG03239.hp2 |
a0001a0002 | a0001c0002a0002c0009 | a0001c0002t0002a0002c0009t0003 | a0001c0002t0002g0109a0001c0002t0002g0112a0002c0009t0003g0078 | 3 | 266 | 0.0113 | 517 | c.298 others(534): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83023271 | C | CCCCACCT others(510): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02922.hp2 |
a0001a0004 | a0001c0003a0004c0019 | a0001c0003t0014a0004c0019t0004 | a0001c0003t0014g0194a0004c0019t0004g0193 | 2 | 266 | 0.0075 | 517 | c.298 others(534): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83023272 | C | CCCACCTG others(510): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01168.hp2 |
a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0235a0002c0005t0007g0236 | 2 | 266 | 0.0075 | 517 | c.298 others(534): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| BFSP2_chr3_133395056_133480208 | 133425964 | A | AGGGGAGG others(510): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0119 | 1 | 276 | 0.0036 | 517 | c.490 others(536): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| C13orf46_chr13_113948705_113979076 | 113974168 | T | TGCAGGCC others(510): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0067 | 1 | 414 | 0.0024 | 517 | c.-17 others(526): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 93 | chr13 | TogoVar | ||||||
| C13orf46_chr13_113948705_113979076 | 113974321 | C | CTGGGGCG others(510): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0065 | 1 | 414 | 0.0024 | 517 | c.-32 others(526): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 246 | chr13 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(510): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 398 | 0.0025 | 517 | c.-22 others(528): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(510): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0012 | a0012c0036 | a0012c0036t0001 | a0012c0036t0001g0011 | 1 | 338 | 0.0030 | 517 | c.300 others(534): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185711 | C | CATAGGGC others(510): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0303 | 1 | 338 | 0.0030 | 517 | c.300 others(534): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | ||||||
| CAPN15_chr16_522712_559636 | 544825 | C | CCTCCCCC others(510): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 410 | 0.0024 | 517 | c.-22 others(534): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CCDC6_chr10_59783747_59911556 | 59882024 | C | CAGGGGGA others(510): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0283 | 1 | 288 | 0.0035 | 517 | c.303 others(536): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 421605 | T | TACACATA others(510): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 432 | 0.0023 | 517 | c.413 others(534): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CHODL_chr21_18239833_18272370 | 18251516 | A | AAAATAAA others(510): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 402 | 0.0025 | 517 | c.80- others(532): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CHODL_chr21_18239833_18272370 | 18251516 | A | AAAATAAA others(510): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19002.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0243 | 3 | 402 | 0.0075 | 517 | c.80- others(532): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(510): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0090 | 1 | 270 | 0.0037 | 517 | c.162 others(538): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45501787 | C | CAGCCGGT others(510): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0072 | 1 | 292 | 0.0034 | 517 | c.268 others(536): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45501904 | C | CCAGGGGC others(510): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0057 | a0004c0057t0002 | a0004c0057t0002g0035 | 1 | 292 | 0.0034 | 517 | c.268 others(536): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL19A1_chr6_69861556_70217468 | 69920983 | T | TATATATA others(510): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 182 | 0.0055 | 517 | c.267 others(534): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45988422 | G | GGTCCAGA others(510): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 128 | 0.0078 | 517 | c.805 others(532): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CPNE7_chr16_89570758_89602246 | 89597938 | C | CCCCCGCC others(510): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 348 | 0.0029 | 517 | c.*13 others(528): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 693 | chr16 | TogoVar |