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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACCS_chr11_44061270_44089237 | 44074734 | C | CTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00738.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0002others(1): Show | a0001c0001t0001a0002c0004t0001a0003c0002t0001others(4): Show | a0001c0001t0001g0260 a0002c0004t0001g0034 a0002c0004t0001g0080 others(16): Show |
29 | 276 | 0.1051 | 40 | c.489 others(53): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15593391 | A | AAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 24 | 0.0417 | 40 | c.346 others(57): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
ACER3_chr11_76855918_77031797 | 77005982 | T | TATTATAT others(33): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030 | a0001c0001t0004g0090 a0001c0001t0030g0015 |
2 | 248 | 0.0081 | 40 | c.497 others(57): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236582738 | G | GGTGTCCT others(33): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 392 | 0.0026 | 40 | c.*11 others(51): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 385 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834807 | A | AGGAAGGA others(33): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 286 | 0.0035 | 40 | c.-38 others(51): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3808 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834807 | A | AGGAAGGA others(33): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 286 | 0.0035 | 40 | c.-38 others(51): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3808 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834807 | A | AGGAAGGA others(33): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 286 | 0.0035 | 40 | c.-38 others(51): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3808 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834807 | A | AGGAAGGA others(33): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 a0001c0001t0001g0260 |
2 | 287 | 0.0070 | 40 | c.-38 others(51): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3808 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834851 | G | GGGAGGGA others(33): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 128 | 0.0078 | 40 | c.-38 others(51): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3764 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834851 | G | GGGAGGGA others(33): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 128 | 0.0078 | 40 | c.-38 others(51): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3764 | chr2 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110950810 | G | GGAGAGAG others(33): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0040 | 1 | 68 | 0.0147 | 40 | c.105 others(61): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110958993 | C | CAGGCCTG others(33): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 148 | 0.0068 | 40 | c.105 others(61): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132325595 | A | AACACACA others(33): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0174 a0001c0002t0004g0173 |
2 | 135 | 0.0148 | 40 | c.121 others(57): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACSBG1_chr15_78162468_78239565 | 78215724 | G | GAGAAAGA others(33): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0129 | 1 | 105 | 0.0095 | 40 | c.132 others(57): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112423219 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0288 |
2 | 149 | 0.0134 | 40 | c.159 others(57): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423221 | A | AAAATATA others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 27 | 0.0370 | 40 | c.159 others(57): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423221 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 27 | 0.0370 | 40 | c.159 others(57): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213840 | T | TCTCTTCT others(33): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18951.hp1 NA18957.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0009 | a0001c0001t0003a0002c0003t0005a0002c0009t0002 | a0001c0001t0003g0245 a0002c0003t0005g0271 a0002c0003t0005g0272 others(1): Show |
4 | 142 | 0.0282 | 40 | c.135 others(59): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213840 | T | TCTCTTCT others(33): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 a0001c0001t0003g0221 |
2 | 140 | 0.0143 | 40 | c.135 others(59): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73923641 | C | CAAGAAAA others(33): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0004a0001c0003t0004 | a0001c0001t0005g0387 a0001c0002t0004g0046 a0001c0002t0004g0370 others(1): Show |
4 | 100 | 0.0400 | 40 | c.*40 others(51): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8699489 | A | AGGGAGGC others(33): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 354 | 0.0028 | 40 | c.-78 others(49): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 695 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0204 |
2 | 173 | 0.0116 | 40 | c.106 others(59): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 172 | 0.0058 | 40 | c.106 others(59): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01168.hp1 HG01928.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0156 a0001c0001t0001g0334 others(4): Show |
7 | 201 | 0.0348 | 40 | c.876 others(53): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673488 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp1 others(19): Show |
a0001 | a0001c0004a0001c0006a0001c0020 | a0001c0004t0001a0001c0004t0005a0001c0004t0029others(4): Show | a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0241 others(19): Show |
22 | 303 | 0.0726 | 40 | c.162 others(59): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673488 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01943.hp2 HG04199.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0005 | a0001c0002t0001g0226 a0001c0004t0005g0243 |
2 | 283 | 0.0071 | 40 | c.162 others(59): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735670 | C | CGCGGGGC others(33): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0079 a0001c0001t0009g0083 |
2 | 269 | 0.0074 | 40 | c.*62 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4082 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735727 | G | GGGGGCGG others(33): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0089 | 1 | 249 | 0.0040 | 40 | c.*62 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4139 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735797 | C | CGGGGCGG others(33): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0088 | 1 | 289 | 0.0035 | 40 | c.*63 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4209 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735817 | G | GCGGGCGG others(33): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0247 | 1 | 200 | 0.0050 | 40 | c.*63 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4229 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735883 | G | GGGGCGGG others(33): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0280 | 1 | 255 | 0.0039 | 40 | c.*64 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4295 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735917 | C | CGGGGCGG others(33): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 NA18612.hp2 NA18939.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0041 | a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0269 others(1): Show |
4 | 290 | 0.0138 | 40 | c.*64 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4329 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735972 | C | CGGGGGTT others(33): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 275 | 0.0036 | 40 | c.*65 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4384 | chr19 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3025587 | G | GGCCACAC others(33): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 364 | 0.0027 | 40 | c.*27 others(51): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 2685 | chr1 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554201 | G | GAGAAAGA others(33): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02886.hp1 HG02897.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0029a0001c0001t0035others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0145 a0001c0001t0001g0199 others(6): Show |
9 | 56 | 0.1607 | 40 | c.544 others(57): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554201 | G | GAGAGAGA others(33): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0008 | a0002c0008t0027 | a0002c0008t0027g0105 | 1 | 48 | 0.0208 | 40 | c.544 others(57): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554268 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01884.hp1 HG02109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0037 | a0001c0001t0001g0181 a0001c0001t0001g0210 a0001c0001t0011g0166 others(1): Show |
4 | 179 | 0.0223 | 40 | c.544 others(57): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54096290 | A | ACGCTCCT others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(168): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0113 others(168): Show |
171 | 263 | 0.6502 | 40 | c.277 others(59): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17184983 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0109 | 1 | 201 | 0.0050 | 40 | c.108 others(59): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0226 | 1 | 299 | 0.0033 | 40 | c.973 others(55): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | |||||||
ADAL_chr15_43325672_43359569 | 43334633 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0054 | 1 | 15 | 0.0667 | 40 | c.-16 others(57): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58655674 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00639.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0123 a0001c0001t0001g0146 a0001c0001t0001g0152 others(41): Show |
44 | 327 | 0.1346 | 40 | c.585 others(57): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58655704 | A | ATATACTA others(33): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 336 | 0.0030 | 40 | c.585 others(57): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 77 | 0.0130 | 40 | c.324 others(59): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88113695 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 219 | 0.0046 | 40 | c.474 others(55): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133264870 | T | TTCCTGCT others(33): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 3 | 384 | 0.0078 | 40 | c.232 others(59): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAM8_chr10_133257423_133281868 | 133265226 | A | AGCTCCTG others(33): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03130.hp2 HG03579.hp1 others(1): Show |
a0008a0013a0023 | a0008c0022a0013c0015a0023c0021 | a0008c0022t0002a0013c0015t0006a0013c0015t0007others(1): Show | a0008c0022t0002g0147 a0013c0015t0006g0164 a0013c0015t0007g0165 others(1): Show |
4 | 384 | 0.0104 | 40 | c.232 others(59): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133460471 | C | CGGCGGGG others(33): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01433.hp1 HG01891.hp1 others(9): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0060 | a0001c0001t0001a0003c0003t0001a0010c0060t0001 | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0046 others(6): Show |
12 | 172 | 0.0698 | 40 | c.*12 others(51): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1086 | chr9 | TogoVar | |||||||
ADAMTS15_chr11_130443645_130481645 | 130470149 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0195 | 1 | 387 | 0.0026 | 40 | c.172 others(57): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100058268 | C | CCCTATCC others(33): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02015.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0009others(3): Show | a0001c0002t0002a0002c0001t0038a0003c0009t0049others(3): Show | a0001c0002t0002g0169 a0002c0001t0038g0051 a0003c0009t0049g0086 others(4): Show |
7 | 213 | 0.0329 | 40 | c.213 others(59): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar |