| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACER1_chr19_6301142_6338612 | 6329356 | T | TATAGAAT others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02071.hp1 HG02071.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0121a0001c0001t0001g0176others(9): Show | 12 | 396 | 0.0303 | 30 | c.93+ others(45): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| ACER3_chr11_76855918_77031797 | 76933173 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01975.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170a0001c0001t0002g0178 | 2 | 346 | 0.0058 | 30 | c.214 others(47): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ACER3_chr11_76855918_77031797 | 77025392 | T | TTATATAT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02922.hp2 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0131a0001c0003t0134 | a0001c0003t0131g0342a0001c0003t0134g0345 | 2 | 346 | 0.0058 | 30 | c.*50 others(41): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 5085 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
| ACMSD_chr2_134833616_134907034 | 134885368 | A | ATTTATAT others(23): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 382 | 0.0026 | 30 | c.849 others(49): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ACMSD_chr2_134833616_134907034 | 134895328 | T | TTACATAT others(23): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 382 | 0.0026 | 30 | c.850 others(47): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ACMSD_chr2_134833616_134907034 | 134895328 | T | TTACATAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(200): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0009a0004c0005others(2): Show | a0001c0001t0001a0001c0009t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(197): Show | 203 | 382 | 0.5314 | 30 | c.850 others(47): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ACO1_chr9_32379643_32459769 | 32403915 | T | TGGGGAGT others(23): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0013a0001c0002t0038a0002c0004t0023others(1): Show | a0001c0002t0013g0064a0001c0002t0038g0328a0002c0004t0023g0008others(1): Show | 6 | 382 | 0.0157 | 30 | c.-22 others(47): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ACOD1_chr13_76943511_76963638 | 76944257 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01070.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004a0001c0002t0001g0009a0001c0002t0001g0022 | 5 | 434 | 0.0115 | 30 | c.-43 others(41): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 4253 | chr13 | TogoVar | ||||||
| ACOT7_chr1_6259272_6398767 | 6354670 | G | GCACTGGC others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0009 | a0001c0001t0003g0154a0001c0001t0003g0157a0001c0001t0003g0158others(4): Show | 7 | 240 | 0.0292 | 30 | c.144 others(47): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| ACOT9_chrX_23696055_23748276 | 23742256 | G | GAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0092 | 1 | 309 | 0.0032 | 30 | c.20+ others(43): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
| ACOX1_chr17_75936507_75984166 | 75965337 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0313 | 1 | 344 | 0.0029 | 30 | c.270 others(47): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
| ACOX1_chr17_75936507_75984166 | 75967635 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0082a0001c0001t0019g0113 | 2 | 344 | 0.0058 | 30 | c.270 others(47): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
| ACOX3_chr4_8361282_8445723 | 8373434 | G | GGGTGCGT others(23): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0328 | 1 | 380 | 0.0026 | 30 | c.189 others(46): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 16/17 | chr4 | TogoVar | ||||||
| ACOX3_chr4_8361282_8445723 | 8391031 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0298a0001c0001t0010g0102 | 2 | 380 | 0.0053 | 30 | c.130 others(49): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/17 | chr4 | TogoVar | ||||||
| ACOXL_chr2_110727573_111123548 | 110846636 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0043 | 1 | 150 | 0.0067 | 30 | c.788 others(47): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ACP2_chr11_47234302_47253814 | 47253134 | C | CGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0028 | 2 | 358 | 0.0056 | 30 | c.-43 others(41): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 4321 | chr11 | TogoVar | ||||||
| ACP3_chr3_132312407_132363841 | 132325595 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02129.hp1 HG03490.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(4): Show | a0001c0001t0002g0094a0001c0001t0005g0030a0001c0001t0017g0165others(5): Show | 8 | 368 | 0.0217 | 30 | c.121 others(47): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ACP3_chr3_132312407_132363841 | 132348999 | T | TCACACAC others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0011others(2): Show | a0001c0002t0003g0011a0001c0002t0003g0053a0001c0002t0003g0055others(16): Show | 20 | 368 | 0.0544 | 30 | c.782 others(45): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02135.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 4 | 444 | 0.0090 | 30 | c.735 others(45): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
| ACP6_chr1_147637230_147675524 | 147674938 | T | TGTTTTGT others(23): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0144 | 1 | 404 | 0.0025 | 30 | c.-48 others(41): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 4415 | chr1 | TogoVar | ||||||
| ACP7_chr19_39079368_39116493 | 39093172 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0398 | 1 | 402 | 0.0025 | 30 | c.122 others(47): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ACRV1_chr11_125666522_125685847 | 125678978 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0002 | a0001c0001t0001g0039a0001c0001t0002g0109a0001c0008t0002g0110 | 4 | 426 | 0.0094 | 30 | c.53- others(43): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| ACRV1_chr11_125666522_125685847 | 125678978 | T | TTTTATAT others(23): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0077 | 2 | 426 | 0.0047 | 30 | c.53- others(43): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
| ACSF3_chr16_89088852_89161233 | 89124061 | C | CGGGTATC others(23): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0020 | a0002c0020t0008 | a0002c0020t0008g0362 | 1 | 368 | 0.0027 | 30 | c.123 others(49): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACSF3_chr16_89088852_89161233 | 89147376 | A | AGGGAGGA others(23): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0234 | 1 | 368 | 0.0027 | 30 | c.161 others(49): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACSF3_chr16_89088852_89161233 | 89147493 | G | GTGAGGGA others(23): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03491.hp2 HG03927.hp1 others(10): Show |
a0004 | a0004c0004 | a0004c0004t0003a0004c0004t0022a0004c0004t0037others(1): Show | a0004c0004t0003g0014a0004c0004t0003g0215a0004c0004t0003g0223others(10): Show | 13 | 368 | 0.0353 | 30 | c.161 others(49): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACSF3_chr16_89088852_89161233 | 89148546 | C | CTGCTGTT others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0246 | 1 | 368 | 0.0027 | 30 | c.161 others(49): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACSL5_chr10_112369116_112433376 | 112423217 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0292 | 2 | 364 | 0.0055 | 30 | c.159 others(47): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ACSL5_chr10_112369116_112433376 | 112423219 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 364 | 0.0028 | 30 | c.159 others(47): 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(23): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18972.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0290a0001c0001t0001g0291 | 3 | 364 | 0.0082 | 30 | c.159 others(47): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ACSM1_chr16_20618235_20702680 | 20672471 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0226 | 1 | 318 | 0.0031 | 30 | c.612 others(45): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
| ACSM2A_chr16_20446521_20492669 | 20458904 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0026 | a0003c0026t0007 | a0003c0026t0007g0170 | 1 | 436 | 0.0023 | 30 | c.-8- others(45): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
| ACSM5_chr16_20404534_20446336 | 20431945 | A | AAATAATA others(23): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0144 | 1 | 434 | 0.0023 | 30 | c.130 others(47): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCTCTT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 NA18939.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276a0001c0001t0001g0279a0001c0001t0001g0284others(4): Show | 7 | 312 | 0.0224 | 30 | c.375 others(49): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCTTTC others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18906.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0145a0002c0004t0001g0150 | 2 | 312 | 0.0064 | 30 | c.375 others(49): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ACSS3_chr12_81073079_81266210 | 81213793 | T | TTTCTCTT others(23): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 290 | 0.0035 | 30 | c.135 others(49): 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(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01071.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0003g0206a0001c0001t0003g0207a0001c0001t0003g0208others(15): Show | 18 | 290 | 0.0621 | 30 | c.135 others(49): 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(23): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0287 | 1 | 290 | 0.0035 | 30 | c.135 others(49): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ACTA2_chr10_88930074_88957773 | 88932031 | G | GGATGATG others(23): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0102a0001c0001t0001g0103 | 3 | 402 | 0.0075 | 30 | c.*31 others(41): Show |
ACTA2 | ENSG00000107796.13 | transcript | ENST00000224784.10 | protein_coding | 3042 | chr10 | TogoVar | ||||||
| ACTBL2_chr5_57475018_57487811 | 57487572 | A | ACCAAGCC others(23): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 448 | 0.0022 | 30 | c.-48 others(41): Show |
ACTBL2 | ENSG00000169067.4 | transcript | ENST00000423391.3 | protein_coding | 4762 | chr5 | TogoVar | ||||||
| ACTG2_chr2_73888008_73924865 | 73923641 | C | CAAGAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 NA19086.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0004 | a0001c0001t0008g0038a0001c0002t0004g0281 | 2 | 416 | 0.0048 | 30 | c.*40 others(41): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | ||||||
| ACTL8_chr1_17750333_17832063 | 17798161 | T | TGCGAAGC others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(115): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(15): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0037others(114): Show | 118 | 366 | 0.3224 | 30 | c.-24 others(49): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ACTN1_chr14_68869128_68984302 | 68881955 | T | TTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045a0001c0001t0002g0100 | 2 | 284 | 0.0070 | 30 | c.195 others(47): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | ||||||
| ACTN1_chr14_68869128_68984302 | 68929006 | A | ATTCGTGG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0140others(229): Show | 234 | 284 | 0.8239 | 30 | c.106 others(47): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
| ACTN1_chr14_68869128_68984302 | 68929042 | G | GGGAGAGG others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 284 | 0.0035 | 30 | c.106 others(47): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
| ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0201a0001c0001t0002g0001a0001c0001t0002g0079 | 4 | 284 | 0.0141 | 30 | c.106 others(49): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
| ACTN2_chr1_236681499_236769631 | 236721015 | G | GGTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01496.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0287a0001c0001t0001g0330a0001c0001t0001g0331others(1): Show | 4 | 344 | 0.0116 | 30 | c.448 others(45): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | ||||||
| ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01258.hp2 HG01943.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0007a0001c0003t0001others(2): Show | a0001c0001t0001g0287a0001c0001t0001g0328a0001c0002t0007g0298others(5): Show | 8 | 344 | 0.0233 | 30 | c.876 others(43): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | ||||||
| ACTN4_chr19_38642649_38736589 | 38735837 | G | GCGGGCGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0289 | 1 | 314 | 0.0032 | 30 | c.*64 others(41): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4249 | chr19 | TogoVar | ||||||
| ACTN4_chr19_38642649_38736589 | 38735843 | G | GGGGCGGG others(23): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 314 | 0.0032 | 30 | c.*64 others(41): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4255 | chr19 | TogoVar |