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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOT9_chrX_23696055_23748276 | 23742256 | G | GAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0030 | a0001c0001t0005g0090 a0001c0002t0030g0089 |
2 | 273 | 0.0073 | 24 | c.20+ others(37): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75965337 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0005 | a0003c0005t0053 | a0003c0005t0053g0305 | 1 | 142 | 0.0070 | 24 | c.270 others(41): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75967620 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0067 | a0002c0002t0067g0232 | 1 | 326 | 0.0031 | 24 | c.270 others(41): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75968435 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 155 | 0.0065 | 24 | c.270 others(41): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
ACOX3_chr4_8361282_8445723 | 8391031 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19090.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0199 a0001c0003t0001g0250 |
2 | 105 | 0.0190 | 24 | c.130 others(43): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/17 | chr4 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110846636 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 NA18946.hp1 NA18950.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0080 a0001c0003t0002g0082 a0001c0003t0002g0105 |
3 | 139 | 0.0216 | 24 | c.788 others(41): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCACACAC others(17): Show |
intron_variant | MODIFIER | HG02615.hp1 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0012 a0002c0002t0002g0116 |
2 | 24 | 0.0833 | 24 | c.788 others(41): 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(17): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG02451.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0058 |
3 | 162 | 0.0185 | 24 | c.-43 others(35): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 4321 | chr11 | TogoVar | |||||||
ACP3_chr3_132312407_132363841 | 132325595 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG03239.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0001t0016a0001c0001t0038others(2): Show | a0001c0001t0009g0161 a0001c0001t0016g0085 a0001c0001t0038g0172 others(3): Show |
6 | 139 | 0.0432 | 24 | c.121 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0065 a0001c0002t0003g0146 a0001c0002t0004g0066 others(4): Show |
7 | 265 | 0.0264 | 24 | c.782 others(39): 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(17): Show |
intron_variant | MODIFIER | HG04115.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | 219 | 0.0091 | 24 | c.735 others(39): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0027 | 1 | 122 | 0.0082 | 24 | c.111 others(43): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACRV1_chr11_125666522_125685847 | 125678977 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0048 | 1 | 423 | 0.0024 | 24 | c.53- others(37): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACRV1_chr11_125666522_125685847 | 125678978 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(34): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 others(11): Show |
37 | 96 | 0.3854 | 24 | c.53- others(37): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACR_chr22_50733204_50750339 | 50748886 | A | ATCCGAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(9): Show |
45 | 420 | 0.1071 | 24 | c.*36 others(35): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3548 | chr22 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78180127 | T | TGTACAAA others(17): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0069 | 1 | 348 | 0.0029 | 24 | c.125 others(41): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 9/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215724 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02055.hp1 HG02258.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0004others(2): Show | a0001c0001t0001g0186 a0001c0001t0008g0192 a0002c0002t0004g0063 others(4): Show |
7 | 111 | 0.0631 | 24 | c.132 others(41): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78226787 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0123 | 1 | 343 | 0.0029 | 24 | c.131 others(41): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
a0003 | a0003c0004a0003c0012 | a0003c0004t0002a0003c0012t0002 | a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0011 others(1): Show |
4 | 40 | 0.1000 | 24 | c.738 others(39): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0002 | a0001c0001t0001g0015 a0007c0008t0002g0161 |
2 | 38 | 0.0526 | 24 | c.738 others(39): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50476060 | T | TGCCTGCC others(17): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0128 |
2 | 314 | 0.0064 | 24 | c.*15 others(35): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1224 | chr17 | TogoVar | |||||||
ACSF2_chr17_50421218_50479837 | 50476060 | T | TGCCTGCC others(17): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 a0001c0003t0001g0024 |
2 | 314 | 0.0064 | 24 | c.*15 others(35): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1224 | chr17 | TogoVar | |||||||
ACSF2_chr17_50421218_50479837 | 50476246 | G | GCAGCGCT others(17): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 313 | 0.0032 | 24 | c.*16 others(35): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1410 | chr17 | TogoVar | |||||||
ACSF2_chr17_50421218_50479837 | 50476318 | C | CCAGCGCG others(17): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0222 | 1 | 316 | 0.0032 | 24 | c.*17 others(35): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1482 | chr17 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89147243 | A | AGGGAGGG others(17): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0052 | a0002c0002t0052g0116 | 1 | 308 | 0.0032 | 24 | c.161 others(43): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89147265 | G | GGGGGAGG others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(17): Show |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0038a0004c0004t0003a0004c0004t0024 | a0002c0003t0038g0065 a0004c0004t0003g0001 a0004c0004t0003g0225 others(13): Show |
20 | 353 | 0.0567 | 24 | c.161 others(43): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89147521 | G | GAATGAGG others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(17): Show |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0038a0004c0004t0003a0004c0004t0024 | a0002c0003t0038g0065 a0004c0004t0003g0001 a0004c0004t0003g0225 others(13): Show |
20 | 366 | 0.0546 | 24 | c.161 others(43): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423205 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 357 | 0.0028 | 24 | c.159 others(41): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423215 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 326 | 0.0061 | 24 | c.159 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 27 | 0.0370 | 24 | c.159 others(41): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20664147 | G | GTATTTAT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01934.hp1 HG02056.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0266 a0001c0001t0002g0280 a0001c0001t0002g0297 others(2): Show |
5 | 16 | 0.3125 | 24 | c.913 others(41): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20678011 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18981.hp1 NA18990.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0181 others(4): Show |
7 | 75 | 0.0933 | 24 | c.611 others(41): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20458892 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0127 | 1 | 434 | 0.0023 | 24 | c.-8- others(39): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20431945 | A | AAATAATA others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01884.hp2 HG02015.hp1 others(10): Show |
a0003a0006a0011 | a0003c0003a0006c0005a0011c0013 | a0003c0003t0001a0003c0003t0003a0006c0005t0012others(1): Show | a0003c0003t0001g0142 a0003c0003t0003g0138 a0003c0003t0003g0139 others(7): Show |
13 | 384 | 0.0339 | 24 | c.130 others(41): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25037001 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(6): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0003a0001c0007t0001a0001c0007t0006 | a0001c0003t0003g0016 a0001c0003t0003g0171 a0001c0003t0003g0172 others(5): Show |
9 | 204 | 0.0441 | 24 | c.432 others(41): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34877909 | C | CAGATAGA others(17): Show |
intron_variant | MODIFIER | HG01517.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0152 |
2 | 87 | 0.0230 | 24 | c.178 others(41): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213896 | T | TTTTCCTT others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18944.hp1 NA18965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0002 | a0001c0001t0013g0176 a0001c0002t0002g0094 a0001c0002t0002g0098 |
3 | 247 | 0.0121 | 24 | c.135 others(43): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02027.hp2 HG02040.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0113 others(3): Show |
6 | 65 | 0.0923 | 24 | c.135 others(43): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213962 | T | TCTTCTTT others(17): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 262 | 0.0038 | 24 | c.135 others(43): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34796180 | G | GAGTCAAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 494 | 0.0020 | 24 | c.-69 others(33): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 632 | chr15 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73904777 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0357 | 1 | 259 | 0.0039 | 24 | c.255 others(41): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 46 | 0.0217 | 24 | c.769 others(41): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17800583 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0003a0001c0009t0001 | a0001c0003t0003g0353 a0001c0009t0001g0331 |
2 | 128 | 0.0156 | 24 | c.-24 others(43): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17812427 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0324 | 1 | 239 | 0.0042 | 24 | c.-24 others(43): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8692549 | A | AGAAGGAA others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(22): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0014 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0003c0003t0001g0000 others(1): Show |
25 | 350 | 0.0714 | 24 | c.*49 others(35): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 4850 | chr19 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AAGAGAGA others(17): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 52 | 0.0192 | 24 | c.*25 others(35): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0043 | 1 | 172 | 0.0058 | 24 | c.106 others(43): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(39): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0194 a0001c0001t0001g0223 a0001c0001t0001g0236 others(39): Show |
42 | 213 | 0.1972 | 24 | c.106 others(43): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 172 | 0.0058 | 24 | c.106 others(43): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 172 | 0.0058 | 24 | c.106 others(43): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar |