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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DST_chr6_56452996_56959830 | 56546357 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0045 | a0045c0013 | a0045c0013t0001 | a0045c0013t0001g0076 | 1 | 82 | 0.0122 | 15 | c.166 others(36): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 61/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56593516 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0012 | a0012c0009 | a0012c0009t0003 | a0012c0009t0003g0063 | 1 | 32 | 0.0313 | 15 | c.127 others(34): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 48/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56647688 | G | GTTGTTTT others(8): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0049 | a0049c0022 | a0049c0022t0001 | a0049c0022t0001g0027 | 1 | 71 | 0.0141 | 15 | c.155 others(32): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 13/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56695126 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0037 | a0037c0017 | a0037c0017t0001 | a0037c0017t0001g0069 | 1 | 46 | 0.0217 | 15 | c.104 others(34): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 9/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56712090 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0058 | 1 | 57 | 0.0175 | 15 | c.688 others(32): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56722368 | G | GTTATTTA others(8): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG02809.hp1 others(3): Show |
a0006a0009a0033 | a0006c0007a0009c0049a0009c0052others(1): Show | a0006c0007t0001a0009c0049t0001a0009c0052t0001others(1): Show | a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0071 others(3): Show |
6 | 51 | 0.1176 | 15 | c.687 others(34): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56735556 | T | TCACCACC others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01109.hp2 others(19): Show |
a0001a0002a0007others(13): Show | a0001c0005a0002c0002a0007c0008others(14): Show | a0001c0005t0001a0002c0002t0001a0007c0008t0001others(14): Show | a0001c0005t0001g0079 a0001c0005t0001g0080 a0002c0002t0001g0065 others(19): Show |
22 | 72 | 0.3056 | 15 | c.626 others(30): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56812109 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02055.hp1 HG02523.hp2 others(5): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0006a0005c0004others(4): Show | a0001c0001t0001a0003c0006t0001a0005c0004t0001others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0038 a0003c0006t0001g0007 others(5): Show |
8 | 22 | 0.3636 | 15 | c.625 others(34): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | |||||||
DST_chr6_56609597_56647889 | 56647688 | G | GTTGTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0031 | a0031c0023 | a0031c0023t0001 | a0031c0023t0001g0066 | 1 | 299 | 0.0033 | 15 | c.-49 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000370765.11 | protein_coding | 4800 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18622942 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01943.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0220 a0001c0001t0001g0238 a0001c0001t0001g0247 others(4): Show |
7 | 257 | 0.0272 | 15 | c.371 others(32): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18649326 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 88 | 0.0114 | 15 | c.477 others(34): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18708243 | T | TTATATAT others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0156 | 1 | 271 | 0.0037 | 15 | c.478 others(34): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18708244 | A | AATATATA others(8): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18947.hp2 NA18951.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0370 a0001c0001t0007g0371 a0001c0001t0007g0372 others(3): Show |
6 | 250 | 0.0240 | 15 | c.478 others(34): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18753607 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01167.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0220 a0001c0001t0001g0242 others(23): Show |
26 | 107 | 0.2430 | 15 | c.*19 others(32): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTNBP1_chr6_15517807_15668028 | 15553594 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(152): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(151): Show |
155 | 179 | 0.8659 | 15 | c.512 others(34): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DTNBP1_chr6_15517807_15668028 | 15647200 | C | CTCTTCTA others(8): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 312 | 0.0032 | 15 | c.161 others(32): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25399350 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02055.hp1 HG02109.hp2 others(18): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0057 others(18): Show |
21 | 110 | 0.1909 | 15 | c.157 others(36): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25526395 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02148.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0150 |
2 | 56 | 0.0357 | 15 | c.100 others(34): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25616630 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 9 | 0.1111 | 15 | c.363 others(32): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
DTX1_chr12_113051730_113103025 | 113080589 | A | AGAATGGA others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01361.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(10): Show |
16 | 233 | 0.0687 | 15 | c.941 others(32): Show |
DTX1 | ENSG00000135144.8 | transcript | ENST00000548759.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76458107 | T | TAAATAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0212 | 1 | 278 | 0.0036 | 15 | c.-39 others(26): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 3601 | chr7 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76460518 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01070.hp2 others(28): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0014 | a0001c0003t0001a0002c0002t0001a0002c0002t0007others(1): Show | a0001c0003t0001g0266 a0001c0003t0001g0267 a0002c0002t0001g0004 others(27): Show |
31 | 151 | 0.2053 | 15 | c.-15 others(26): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 1190 | chr7 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76486846 | G | GGCGGCGG others(8): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0265 | 1 | 208 | 0.0048 | 15 | c.908 others(32): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76486884 | C | CTGCTGCT others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02738.hp1 HG02886.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0002a0001c0003t0001a0003c0005t0001others(1): Show | a0001c0001t0002g0058 a0001c0003t0001g0138 a0003c0005t0001g0071 others(1): Show |
4 | 177 | 0.0226 | 15 | c.908 others(32): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX3L_chr3_122559338_122580203 | 122562156 | C | CTCTTTTC others(8): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0028others(3): Show | a0001c0001t0002g0017 a0002c0002t0002g0003 a0002c0002t0028g0035 others(4): Show |
8 | 184 | 0.0435 | 15 | c.-22 others(26): Show |
DTX3L | ENSG00000163840.10 | transcript | ENST00000296161.9 | protein_coding | 2181 | chr3 | TogoVar | |||||||
DTX3L_chr3_122559338_122580203 | 122580018 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 470 | 0.0021 | 15 | c.*82 others(26): Show |
DTX3L | ENSG00000163840.10 | transcript | ENST00000296161.9 | protein_coding | 4816 | chr3 | TogoVar | |||||||
DTX4_chr11_59167132_59213588 | 59174501 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00621.hp2 others(43): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0008 a0001c0001t0002g0055 a0001c0001t0002g0066 others(33): Show |
46 | 210 | 0.2190 | 15 | c.211 others(32): Show |
DTX4 | ENSG00000110042.8 | transcript | ENST00000227451.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DUS3L_chr19_5780140_5796163 | 5795714 | G | GTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01256.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 a0002c0001t0002g0004 |
4 | 50 | 0.0800 | 15 | c.-45 others(26): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4552 | chr19 | TogoVar | |||||||
DUSP12_chr1_161744786_161762238 | 161746530 | T | TTCCTTCC others(8): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 363 | 0.0028 | 15 | c.-32 others(26): Show |
DUSP12 | ENSG00000081721.12 | transcript | ENST00000367943.5 | protein_coding | 3255 | chr1 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37485510 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0195 a0001c0001t0005g0076 |
2 | 24 | 0.0833 | 15 | c.-46 others(26): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 4380 | chr17 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37511585 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0268 a0001c0001t0005g0271 |
2 | 49 | 0.0408 | 15 | c.-92 others(30): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37511937 | A | AGTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02965.hp2 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0083 a0001c0001t0002g0154 a0001c0001t0007g0052 |
3 | 308 | 0.0097 | 15 | c.-92 others(30): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
DUSP1_chr5_172763096_172776195 | 172763316 | C | CGGGGGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 288 | 0.0035 | 15 | c.*54 others(26): Show |
DUSP1 | ENSG00000120129.6 | transcript | ENST00000239223.4 | protein_coding | 4779 | chr5 | TogoVar | |||||||
DUSP26_chr8_33586330_33605023 | 33587530 | T | TTTCTTTC others(8): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 418 | 0.0024 | 15 | c.*44 others(26): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 3799 | chr8 | TogoVar | |||||||
DUSP26_chr8_33586330_33605023 | 33587534 | T | TTTCTTTC others(8): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0130 |
2 | 417 | 0.0048 | 15 | c.*44 others(26): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 3795 | chr8 | TogoVar | |||||||
DUSP26_chr8_33586330_33605023 | 33592538 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0087 a0001c0001t0008g0050 |
2 | 191 | 0.0105 | 15 | c.437 others(30): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
DUSP29_chr10_75032472_75078642 | 75074311 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0048 | 1 | 307 | 0.0033 | 15 | c.-77 others(24): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 670 | chr10 | TogoVar | |||||||
DUSP8_chr11_1549051_1577271 | 1557337 | G | GCTCAGGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 | a0008 | a0008c0023 | a0008c0023t0003 | a0008c0023t0003g0121 | 1 | 366 | 0.0027 | 15 | c.104 others(24): Show |
p.Arg others(13): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 7/7 | 1537/4824 | 1058/1878 | 353/625 | chr11 | TogoVar | |||
DUSP9_chrX_153642203_153656326 | 153642412 | A | AGGAGGCA others(8): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp1 NA18946.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010 | a0001c0001t0001g0001 a0001c0001t0006g0001 a0001c0001t0010g0001 |
10 | 326 | 0.0307 | 15 | c.-50 others(26): Show |
DUSP9 | ENSG00000130829.18 | transcript | ENST00000342782.4 | protein_coding | 4790 | chrX | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57161324 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0170 |
3 | 71 | 0.0423 | 15 | c.26- others(28): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57162378 | C | CTCCTTGA others(8): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 444 | 0.0023 | 15 | c.26- others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165318 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 435 | 0.0023 | 15 | c.25+ others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165320 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 380 | 0.0026 | 15 | c.25+ others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165322 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03654.hp2 NA18949.hp1 NA18950.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(2): Show |
5 | 341 | 0.0147 | 15 | c.25+ others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165324 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 197 | 0.0051 | 15 | c.25+ others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165324 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 a0001c0001t0002g0111 |
2 | 198 | 0.0101 | 15 | c.25+ others(30): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57171993 | C | CGCGAGCG others(8): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 a0001c0001t0002g0362 |
2 | 424 | 0.0047 | 15 | c.-45 others(26): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4509 | chr19 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49080150 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01496.hp2 HG01981.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0185 others(15): Show |
18 | 60 | 0.3000 | 15 | c.202 others(36): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49205992 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(100): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0177 a0001c0001t0001g0217 a0001c0001t0001g0221 others(100): Show |
103 | 284 | 0.3627 | 15 | c.162 others(34): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49206002 | T | TGTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0010 | a0004c0010t0023 | a0004c0010t0023g0009 | 1 | 288 | 0.0035 | 15 | c.162 others(34): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar |