| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SMOC2_chr6_168436184_168672992 | 168560546 | GCCCTGAG others(1033): Show |
G | intron_variant | MODIFIER | HG01243.hp2 NA19012.hp1 NA19079.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0145a0001c0001t0001g0165a0001c0002t0002g0001 | 3 | 180 | 0.0167 | -1040 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560572 | ATTCTTGG others(1033): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 180 | 0.0056 | -1040 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DHCR24_chr1_54844627_54892195 | 54876671 | ATTCACCC others(1032): Show |
A | intron_variant | MODIFIER | NA18947.hp1 NA18950.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(1): Show | 4 | 386 | 0.0104 | -1039 | c.388 others(16): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1350135 | GGGGGGAG others(1032): Show |
G | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | -1039 | c.*24 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2555 | chr1 | TogoVar | ||||||
| SLC10A7_chr4_146248981_146526940 | 146401121 | TCATTCAG others(1032): Show |
T | intron_variant | MODIFIER | NA18947.hp1 NA18957.hp1 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084a0001c0001t0005g0115a0001c0001t0005g0116others(1): Show | 4 | 244 | 0.0164 | -1039 | c.435 others(19): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4360726 | CCTCGTGA others(1031): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0047 | a0001c0047t0014 | a0001c0047t0014g0024 | 1 | 126 | 0.0079 | -1038 | c.415 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346045 | CGAGAGCA others(1031): Show |
C | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 288 | 0.0035 | -1038 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| PPP2R2D_chr10_131896008_131964834 | 131958129 | CGTCCCCC others(1031): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0045 | 1 | 394 | 0.0025 | -1038 | c.*21 others(11): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 2188 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| PRKCA_chr17_66297613_66815743 | 66798502 | GGTGGTGA others(1031): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01515.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0045a0001c0003t0001 | a0001c0001t0045g0006a0001c0003t0001g0164 | 2 | 178 | 0.0112 | -1038 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ZNF804B_chr7_88754700_89343528 | 89048134 | GTCATTCT others(1031): Show |
G | intron_variant | MODIFIER | NA20300.hp1 NA21309.hp2 |
a0002a0021 | a0002c0007a0021c0019 | a0002c0007t0001a0021c0019t0003 | a0002c0007t0001g0133a0021c0019t0003g0053 | 2 | 166 | 0.0121 | -1038 | c.109 others(21): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1089158 | GTTGTTGT others(1030): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0120a0001c0001t0124a0004c0005t0122 | a0001c0001t0120g0024a0001c0001t0124g0050a0004c0005t0122g0057 | 3 | 162 | 0.0185 | -1037 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(1030): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 350 | 0.0029 | -1037 | c.*21 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1740824 | GACAGTGA others(1030): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0133 | 1 | 445 | 0.0023 | -1037 | c.-20 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2046 | chr17 | TogoVar | ||||||
| VEGFA_chr6_43765211_43791487 | 43787931 | CTTTTTTT others(1030): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0024 | 1 | 446 | 0.0022 | -1037 | c.*33 others(11): Show |
VEGFA | ENSG00000112715.26 | transcript | ENST00000672860.3 | protein_coding | 1445 | chr6 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1740824 | GACAGTGA others(1030): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 431 | 0.0023 | -1037 | c.*31 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2240 | chr17 | TogoVar | ||||||
| ZNF879_chr5_179018804_179040064 | 179039027 | AGCCTCTC others(1030): Show |
A | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 456 | 0.0022 | -1037 | c.*53 others(11): Show |
ZNF879 | ENSG00000234284.7 | transcript | ENST00000444149.7 | protein_coding | 3964 | chr5 | TogoVar | ||||||
| AKAP6_chr14_32324298_32842684 | 32484098 | ATAGGTGT others(1029): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0006others(50): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(94): Show | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0049others(127): Show | 130 | 154 | 0.8442 | -1036 | c.324 others(19): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | chr14 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 138017897 | TCAGGTGC others(1029): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02895.hp2 HG03139.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0013others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0006others(4): Show | a0001c0002t0001g0072a0001c0002t0004g0067a0001c0002t0004g0070others(6): Show | 9 | 248 | 0.0363 | -1036 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1B_chr9_137872782_138129619 | 138018008 | TCAGGTGC others(1029): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01943.hp1 HG02074.hp1 |
a0001 | a0001c0002a0001c0005a0001c0007 | a0001c0002t0001a0001c0005t0004a0001c0007t0003 | a0001c0002t0001g0058a0001c0005t0004g0086a0001c0007t0003g0037 | 3 | 248 | 0.0121 | -1036 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| LMLN_chr3_197955217_198048720 | 198003629 | TTATCTAT others(1029): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0231 | 1 | 258 | 0.0039 | -1036 | c.131 others(18): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MLPH_chr2_237482251_237560322 | 237544162 | GGGGGGAC others(1029): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0082 | 1 | 286 | 0.0035 | -1036 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| WDTC1_chr1_27229632_27313636 | 27244839 | CTGCTATG others(1029): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 214 | 0.0047 | -1036 | c.-10 others(21): Show |
WDTC1 | ENSG00000142784.16 | transcript | ENST00000319394.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46293436 | TCAGCCAC others(1029): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 404 | 0.0025 | -1036 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCM1_chr8_17917988_18034948 | 17994714 | CTTTGGGA others(1028): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02572.hp2 others(5): Show |
a0005 | a0005c0005 | a0005c0005t0008a0005c0005t0044a0005c0005t0055 | a0005c0005t0008g0168a0005c0005t0008g0169a0005c0005t0008g0174others(5): Show | 8 | 368 | 0.0217 | -1035 | c.482 others(19): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2280720 | CGATCTTC others(1028): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0060 | 1 | 330 | 0.0030 | -1035 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235637 | CCCCTCTG others(1027): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0087 | 1 | 106 | 0.0094 | -1034 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137566692 | ACTCTGTC others(1027): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 340 | 0.0029 | -1034 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| KLC1_chr14_103624211_103706544 | 103670515 | GTAGTAGA others(1027): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 368 | 0.0027 | -1034 | c.987 others(16): Show |
KLC1 | ENSG00000126214.22 | transcript | ENST00000334553.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MRPS28_chr8_79913717_80035259 | 79957587 | AAGTGCCT others(1027): Show |
A | intron_variant | MODIFIER | NA19080.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0068 | 2 | 300 | 0.0067 | -1034 | c.396 others(19): Show |
MRPS28 | ENSG00000147586.10 | transcript | ENST00000276585.9 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
| PPP3CA_chr4_101018418_101352526 | 101038996 | TTCAGACA others(1027): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00735.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(12): Show | a0001c0001t0002g0055a0001c0001t0008g0139a0001c0001t0008g0147others(19): Show | 22 | 192 | 0.1146 | -1034 | c.124 others(18): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 11/13 | chr4 | TogoVar | ||||||
| SLMAP_chr3_57751309_57935003 | 57905313 | ACTCTGTT others(1027): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 310 | 0.0032 | -1034 | c.150 others(19): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235614 | CCCTCTGC others(1026): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0089 | 1 | 106 | 0.0094 | -1033 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806539 | CCCCTCAG others(1026): Show |
C | downstream_gene_variant | MODIFIER | NA18983.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0236 | 1 | 314 | 0.0032 | -1033 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2253 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806539 | CCCCTCAG others(1026): Show |
C | upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0024 | 1 | 319 | 0.0031 | -1033 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2653 | chr2 | TogoVar | ||||||
| NLRP5_chr19_55994726_56066810 | 56019729 | CAGTAATT others(1026): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02809.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
a0016a0045 | a0016c0097a0016c0129a0016c0130others(1): Show | a0016c0097t0001a0016c0129t0001a0016c0130t0003others(1): Show | a0016c0097t0001g0107a0016c0129t0001g0100a0016c0130t0003g0316others(1): Show | 4 | 396 | 0.0101 | -1033 | c.622 others(15): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2281451 | CGGAGATC others(1026): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0097 | 1 | 330 | 0.0030 | -1033 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ACAP3_chr1_1287391_1312930 | 1288538 | TCTGCTCC others(1025): Show |
T | downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 295 | 0.0034 | -1032 | c.*39 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3852 | chr1 | TogoVar | ||||||
| EPN2_chr17_19232366_19341715 | 19294577 | AGGTTTCT others(1025): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 282 | 0.0036 | -1032 | c.766 others(17): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241806535 | CTCCCCCC others(1025): Show |
C | downstream_gene_variant | MODIFIER | NA18977.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 314 | 0.0032 | -1032 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2249 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806535 | CTCCCCCC others(1025): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp2 NA18977.hp2 |
a0001a0005 | a0001c0004a0005c0017 | a0001c0004t0001a0005c0017t0003 | a0001c0004t0001g0011a0005c0017t0003g0091 | 2 | 319 | 0.0063 | -1032 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2657 | chr2 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288538 | TCTGCTCC others(1025): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0176 | 1 | 290 | 0.0035 | -1032 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 4041632 | ACTGGTCC others(1025): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG00738.hp2 others(34): Show |
a0001a0002a0009others(12): Show | a0001c0007a0001c0011a0001c0025others(31): Show | a0001c0007t0021a0001c0011t0008a0001c0011t0039others(33): Show | a0001c0007t0021g0110a0001c0011t0008g0028a0001c0011t0039g0061others(34): Show | 37 | 116 | 0.3190 | -1032 | c.260 others(19): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SLC35E2B_chr1_1656478_1697795 | 1693977 | CAAAAGAA others(1025): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0071 | a0002c0002t0071g0164 | 1 | 348 | 0.0029 | -1032 | c.-31 others(11): Show |
SLC35E2B | ENSG00000189339.12 | transcript | ENST00000617444.5 | protein_coding | 1183 | chr1 | TogoVar | ||||||
| ACACA_chr17_37079992_37411836 | 37380859 | CTGCTGGG others(1024): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 299 | 0.0033 | -1031 | c.38+ others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
| C17orf78_chr17_37370985_37397708 | 37380859 | CTGCTGGG others(1024): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 441 | 0.0023 | -1031 | c.391 others(17): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1015387 | AGACGACG others(1024): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | -1031 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 33103273 | CCTGTCAG others(1024): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0044 | 1 | 126 | 0.0079 | -1031 | c.32- others(17): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 127260828 | CATGGGTG others(1024): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0020 | a0004c0020t0003 | a0004c0020t0003g0033 | 1 | 136 | 0.0074 | -1031 | c.304 others(19): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 29/51 | chr10 | TogoVar | ||||||
| HTR1F_chr3_87787706_87998839 | 87866586 | TGCTAGTT others(1024): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 250 | 0.0040 | -1031 | c.-43 others(19): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
| LARS2_chr3_45383576_45554407 | 45455273 | CTATTTGT others(1024): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01515.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241a0001c0002t0001g0242 | 2 | 242 | 0.0083 | -1031 | c.607 others(17): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 7/21 | chr3 | TogoVar |