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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCT_chr13_94431811_94484682 | 94472556 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0234 | 1 | 315 | 0.0032 | -29 | c.296 others(46): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
DCUN1D2_chr13_113450819_113495711 | 113453807 | AGGCGTGC others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(13): Show | a0001c0001t0003g0005 a0001c0001t0003g0035 a0001c0001t0003g0042 others(68): Show |
90 | 362 | 0.2486 | -29 | c.*41 others(40): Show |
DCUN1D2 | ENSG00000150401.15 | transcript | ENST00000478244.6 | protein_coding | 2011 | chr13 | TogoVar | |||||||
DDX1_chr2_15586868_15636101 | 15613008 | AGAGGGAG others(22): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA19065.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0050 | 2 | 394 | 0.0051 | -29 | c.957 others(44): Show |
DDX1 | ENSG00000079785.16 | transcript | ENST00000233084.8 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DDX42_chr17_63769170_63824317 | 63789546 | CTTTTTTG others(22): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp1 HG02896.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0047 a0001c0004t0001g0044 a0001c0004t0001g0045 |
3 | 299 | 0.0100 | -29 | c.221 others(46): Show |
DDX42 | ENSG00000198231.14 | transcript | ENST00000389924.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DDX4_chr5_55733061_55822157 | 55812508 | GAGCCGAG others(22): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp2 others(40): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0001a0002c0003t0001a0004c0006t0001 | a0001c0001t0001g0197 a0002c0003t0001g0003 a0002c0003t0001g0011 others(34): Show |
43 | 344 | 0.1250 | -29 | c.161 others(48): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31450546 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0147 |
2 | 364 | 0.0055 | -29 | c.*37 others(38): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 290 | chr20 | TogoVar | |||||||
DEFB123_chr20_31435632_31455257 | 31450548 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 367 | 0.0027 | -29 | c.*37 others(38): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 292 | chr20 | TogoVar | |||||||
DEFB123_chr20_31435632_31455257 | 31450552 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp2 NA18942.hp1 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
4 | 327 | 0.0122 | -29 | c.*37 others(38): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 296 | chr20 | TogoVar | |||||||
DEFB123_chr20_31435632_31455257 | 31450554 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01123.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(26): Show |
53 | 334 | 0.1587 | -29 | c.*38 others(38): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 298 | chr20 | TogoVar | |||||||
DEFB123_chr20_31435632_31455257 | 31450556 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01361.hp2 HG03831.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0027 others(2): Show |
8 | 343 | 0.0233 | -29 | c.*38 others(38): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 300 | chr20 | TogoVar | |||||||
DEFB123_chr20_31435632_31455257 | 31450558 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01069.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 |
6 | 361 | 0.0166 | -29 | c.*38 others(38): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 302 | chr20 | TogoVar | |||||||
DEFB123_chr20_31435632_31455257 | 31450560 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 355 | 0.0028 | -29 | c.*38 others(38): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 304 | chr20 | TogoVar | |||||||
DENND10_chr10_119099113_119142984 | 119103996 | TCCGGGGA others(22): Show |
T | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0286 | 1 | 372 | 0.0027 | -29 | c.-14 others(38): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 116 | chr10 | TogoVar | |||||||
DENND11_chr7_141651728_141707166 | 141701404 | GGGGGACG others(22): Show |
G | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0049 | 1 | 344 | 0.0029 | -29 | c.268 others(44): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
DESI2_chr1_244648126_244714033 | 244713269 | GCTGGGAT others(22): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 358 | 0.0028 | -29 | c.*74 others(40): Show |
DESI2 | ENSG00000121644.19 | transcript | ENST00000302550.16 | protein_coding | 4237 | chr1 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313636 | CCCGCCTC others(22): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0016 | 2 | 368 | 0.0054 | -29 | c.*28 others(40): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 947 | chr8 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313678 | CCCGCCCC others(22): Show |
C | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 336 | 0.0030 | -29 | c.*28 others(40): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 905 | chr8 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233410208 | AGAGGGGG others(22): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0174 | 1 | 334 | 0.0030 | -29 | c.348 others(48): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRS7C_chr17_9766438_9796592 | 9767687 | GCAATCAA others(22): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG02083.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0258 a0001c0001t0001g0275 others(1): Show |
4 | 422 | 0.0095 | -29 | c.*37 others(40): Show |
DHRS7C | ENSG00000184544.12 | transcript | ENST00000571134.2 | protein_coding | 3750 | chr17 | TogoVar | |||||||
DHRS9_chr2_169064563_169101167 | 169079985 | GAAAGAAA others(22): Show |
G | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 354 | 0.0028 | -29 | c.-59 others(46): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169079993 | GAAAGAAA others(22): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0062 | 1 | 393 | 0.0025 | -29 | c.-59 others(46): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2228425 | AAGGAAGG others(22): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 42 | 0.0238 | -29 | c.805 others(46): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2363235 | ATTTTATC others(22): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01167.hp1 HG02074.hp1 others(7): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0010a0003c0012others(2): Show | a0001c0001t0001a0001c0010t0010a0003c0012t0005others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 others(7): Show |
10 | 48 | 0.2083 | -29 | c.286 others(48): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2363262 | CTGCCATT others(22): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0002 | 1 | 48 | 0.0208 | -29 | c.286 others(48): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHX34_chr19_47344315_47387704 | 47384325 | GTTTTTTT others(22): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01928.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0034 a0001c0001t0002g0035 others(2): Show |
9 | 21 | 0.4286 | -29 | c.*22 others(40): Show |
DHX34 | ENSG00000134815.19 | transcript | ENST00000328771.9 | protein_coding | 1622 | chr19 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46506723 | TTTTTCTT others(22): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0346 | 1 | 283 | 0.0035 | -29 | c.784 others(46): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579641 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 276 | 0.0036 | -29 | c.101 others(48): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579645 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0178 |
2 | 234 | 0.0085 | -29 | c.101 others(48): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | chr12 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50633265 | GTAATAGG others(22): Show |
G | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 282 | 0.0035 | -29 | c.172 others(46): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 337020 | TGTGTGTG others(22): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp1 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0002 | a0001c0005t0001g0005 a0001c0005t0002g0006 |
2 | 88 | 0.0227 | -29 | c.358 others(48): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 29/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 685158 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02040.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028 a0001c0002t0001g0030 |
2 | 84 | 0.0238 | -29 | c.85+ others(44): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 685160 | AAATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02132.hp2 HG02155.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0027 a0001c0002t0003g0029 a0001c0002t0003g0058 |
3 | 53 | 0.0566 | -29 | c.85+ others(44): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIPK1B_chr9_136707572_136729742 | 136719869 | CTGGGGCT others(22): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 420 | 0.0024 | -29 | c.199 others(46): Show |
DIPK1B | ENSG00000165716.11 | transcript | ENST00000371692.9 | protein_coding | 2/4 | chr9 | TogoVar | |||||||
DIS3L2_chr2_231956713_232342192 | 232322875 | CGATGGCC others(22): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0144 a0001c0001t0001g0145 others(4): Show |
7 | 302 | 0.0232 | -29 | c.174 others(48): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIXDC1_chr11_111932343_112027653 | 111950426 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01123.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0051 others(2): Show |
5 | 263 | 0.0190 | -29 | c.60+ others(46): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DIXDC1_chr11_111932343_112027653 | 111950428 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0267 | 1 | 275 | 0.0036 | -29 | c.60+ others(46): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13188821 | ATATATGT others(22): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0003a0001c0011t0003 | a0001c0004t0003g0160 a0001c0011t0003g0007 |
2 | 199 | 0.0101 | -29 | c.134 others(50): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLG5_chr10_77785791_77931755 | 77888988 | GAAGCCCA others(22): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00642.hp2 others(76): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0029 others(74): Show |
79 | 325 | 0.2431 | -29 | c.305 others(48): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/31 | chr10 | TogoVar | |||||||
DLG5_chr10_77785791_77931755 | 77889129 | CTCACAAG others(22): Show |
C | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001a0002 | a0001c0007a0002c0004 | a0001c0007t0004a0002c0004t0004 | a0001c0007t0004g0107 a0002c0004t0004g0099 |
2 | 330 | 0.0061 | -29 | c.305 others(48): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/31 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1014570 | GTGTGTGA others(22): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0023a0001c0010t0025 | a0001c0002t0023g0005 a0001c0010t0025g0012 |
2 | 40 | 0.0500 | -29 | c.73+ others(48): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1015626 | GTGTGTGA others(22): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 38 | 0.0263 | -29 | c.73+ others(48): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1254932 | CCCTCTCC others(22): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG03492.hp1 |
a0002 | a0002c0001 | a0002c0001t0007a0002c0001t0020 | a0002c0001t0007g0038 a0002c0001t0020g0024 |
2 | 38 | 0.0526 | -29 | c.74- others(44): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1255514 | GTGTCATC others(22): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03486.hp1 HG03516.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0006a0001c0003t0001a0002c0001t0002others(1): Show | a0001c0002t0006g0011 a0001c0003t0001g0026 a0002c0001t0002g0032 others(1): Show |
4 | 40 | 0.1000 | -29 | c.74- others(44): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1255671 | CCTGCCTG others(22): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp1 |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0002a0003c0005t0002 | a0002c0001t0002g0032 a0003c0005t0002g0030 |
2 | 40 | 0.0500 | -29 | c.74- others(44): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1372205 | CTGCCAAC others(22): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp1 HG02258.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0006others(7): Show | a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0022g0034 others(8): Show |
11 | 40 | 0.2750 | -29 | c.106 others(50): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32232057 | TGAAATTA others(22): Show |
T | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0008 | 1 | 126 | 0.0079 | -29 | c.629 others(50): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMRTC2_chr19_41840042_41857333 | 41843049 | AAAAAAAA others(22): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 396 | 0.0025 | -29 | c.-20 others(40): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1992 | chr19 | TogoVar | |||||||
DMRTC2_chr19_41840042_41857333 | 41843050 | AAAAAAAA others(22): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 NA18939.hp1 NA18942.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0016 others(1): Show |
17 | 398 | 0.0427 | -29 | c.-20 others(40): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1991 | chr19 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911959 | TGGGGGAT others(22): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0135 | 1 | 164 | 0.0061 | -29 | c.101 others(50): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911961 | GGGGATCT others(22): Show |
G | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0093 | a0002c0093t0002 | a0002c0093t0002g0134 | 1 | 166 | 0.0060 | -29 | c.101 others(50): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |