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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DTNBP1_chr6_15517807_15668028 | 15534560 | T | TGAGGCAG others(4): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 314 | 0.0032 | 11 | c.512 others(28): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DTNBP1_chr6_15517807_15668028 | 15541299 | C | CCAAATAT others(4): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 others(5): Show |
8 | 314 | 0.0255 | 11 | c.512 others(28): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DTNBP1_chr6_15517807_15668028 | 15636157 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01074.hp2 others(42): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0073 others(42): Show |
45 | 314 | 0.1433 | 11 | c.222 others(28): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25427180 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 168 | 0.0060 | 11 | c.155 others(28): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 15/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25526395 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 HG02615.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0002t0001g0143 |
3 | 168 | 0.0179 | 11 | c.100 others(30): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25526395 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 168 | 0.0060 | 11 | c.100 others(30): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25616630 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01192.hp2 HG02109.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0087 a0001c0001t0001g0122 a0001c0002t0001g0108 |
3 | 168 | 0.0179 | 11 | c.363 others(28): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76460518 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp2 others(33): Show |
a0001a0002a0003others(7): Show | a0001c0042a0002c0007a0002c0012others(10): Show | a0001c0042t0001a0002c0007t0001a0002c0012t0003others(10): Show | a0001c0042t0001g0273 a0002c0007t0001g0185 a0002c0007t0001g0260 others(33): Show |
36 | 280 | 0.1286 | 11 | c.-15 others(22): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 1190 | chr7 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76468758 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01261.hp1 others(12): Show |
a0003a0004a0005others(1): Show | a0003c0004a0004c0048a0005c0006others(1): Show | a0003c0004t0001a0004c0048t0001a0005c0006t0001others(1): Show | a0003c0004t0001g0189 a0003c0004t0001g0246 a0003c0004t0001g0247 others(12): Show |
15 | 280 | 0.0536 | 11 | c.-90 others(28): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76492463 | A | ACGGTGGG others(4): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01496.hp2 others(8): Show |
a0002a0009a0015others(2): Show | a0002c0007a0009c0044a0015c0039others(2): Show | a0002c0007t0001a0009c0044t0001a0015c0039t0001others(2): Show | a0002c0007t0001g0185 a0002c0007t0001g0260 a0002c0007t0001g0270 others(8): Show |
11 | 280 | 0.0393 | 11 | c.100 others(28): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76498794 | G | GGGGGTGT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 NA18522.hp2 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0120 a0005c0006t0001g0121 a0005c0006t0001g0122 others(1): Show |
4 | 280 | 0.0143 | 11 | c.115 others(30): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX3L_chr3_122559338_122580203 | 122562156 | C | CTCTTTTC others(4): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 472 | 0.0021 | 11 | c.-22 others(22): Show |
DTX3L | ENSG00000163840.10 | transcript | ENST00000296161.9 | protein_coding | 2181 | chr3 | TogoVar | |||||||
DTX3L_chr3_122559338_122580203 | 122580029 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0122 | 1 | 472 | 0.0021 | 11 | c.*82 others(22): Show |
DTX3L | ENSG00000163840.10 | transcript | ENST00000296161.9 | protein_coding | 4827 | chr3 | TogoVar | |||||||
DTX4_chr11_59167132_59213588 | 59174501 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0213 a0001c0001t0003g0214 |
2 | 390 | 0.0051 | 11 | c.211 others(28): Show |
DTX4 | ENSG00000110042.8 | transcript | ENST00000227451.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DUOX1_chr15_45124994_45170574 | 45162851 | A | ACAGCTCA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(116): Show |
a0002a0006a0007others(8): Show | a0002c0002a0002c0006a0002c0023others(10): Show | a0002c0002t0003a0002c0002t0005a0002c0006t0003others(13): Show | a0002c0002t0003g0002 a0002c0002t0003g0023 a0002c0002t0003g0025 others(102): Show |
119 | 386 | 0.3083 | 11 | c.424 others(28): Show |
DUOX1 | ENSG00000137857.18 | transcript | ENST00000389037.7 | protein_coding | 31/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DUOX2_chr15_45087650_45119172 | 45107886 | A | AAAAAGAA others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01934.hp1 others(11): Show |
a0005a0009a0016others(1): Show | a0005c0006a0005c0018a0009c0011others(3): Show | a0005c0006t0002a0005c0018t0001a0009c0011t0003others(3): Show | a0005c0006t0002g0008 a0005c0006t0002g0016 a0005c0006t0002g0142 others(6): Show |
14 | 280 | 0.0500 | 11 | c.157 others(28): Show |
DUOX2 | ENSG00000140279.13 | transcript | ENST00000389039.11 | protein_coding | 13/33 | chr15 | TogoVar | |||||||
DUS1L_chr17_82052506_82070804 | 82070264 | T | TTTCTTTC others(4): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01361.hp1 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0002a0004c0013t0002 | a0001c0001t0002g0002 a0004c0013t0002g0062 |
2 | 424 | 0.0047 | 11 | c.-46 others(22): Show |
DUS1L | ENSG00000169718.18 | transcript | ENST00000306796.10 | protein_coding | 4461 | chr17 | TogoVar | |||||||
DUS2_chr16_68018284_68084320 | 68077326 | C | CACAGGAG others(4): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0218 | 1 | 234 | 0.0043 | 11 | c.117 others(28): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 15/16 | chr16 | TogoVar | |||||||
DUS3L_chr19_5780140_5796163 | 5789028 | C | CACCAGAG others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(184): Show |
a0001a0003a0007others(5): Show | a0001c0002a0001c0003a0001c0004others(14): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(14): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 others(56): Show |
187 | 364 | 0.5137 | 11 | c.900 others(26): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 3/12 | chr19 | TogoVar | |||||||
DUSP11_chr2_73757213_73785103 | 73777281 | A | ATGACTCA others(4): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 a0001c0001t0002g0048 |
2 | 386 | 0.0052 | 11 | c.177 others(28): Show |
DUSP11 | ENSG00000144048.11 | transcript | ENST00000272444.8 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37485510 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(120): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(111): Show |
123 | 421 | 0.2922 | 11 | c.-46 others(22): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 4380 | chr17 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37498314 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 a0001c0001t0002g0297 |
2 | 421 | 0.0048 | 11 | c.-18 others(30): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP16_chr12_12468282_12567863 | 12471945 | T | TTACACTC others(4): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 352 | 0.0028 | 11 | c.*48 others(22): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 1336 | chr12 | TogoVar | |||||||
DUSP16_chr12_12468282_12567863 | 12564927 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0324 | 1 | 352 | 0.0028 | 11 | c.-31 others(22): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 2065 | chr12 | TogoVar | |||||||
DUSP1_chr5_172763096_172776195 | 172763316 | C | CGGGGGGG others(4): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 462 | 0.0022 | 11 | c.*54 others(22): Show |
DUSP1 | ENSG00000120129.6 | transcript | ENST00000239223.4 | protein_coding | 4779 | chr5 | TogoVar | |||||||
DUSP26_chr8_33586330_33605023 | 33587510 | C | CTTCTTCT others(4): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 420 | 0.0024 | 11 | c.*45 others(22): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 3819 | chr8 | TogoVar | |||||||
DUSP4_chr8_29328064_29355684 | 29329513 | A | AGAATCTA others(4): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 392 | 0.0026 | 11 | c.*75 others(22): Show |
DUSP4 | ENSG00000120875.9 | transcript | ENST00000240100.7 | protein_coding | 3550 | chr8 | TogoVar | |||||||
DUSP8_chr11_1549051_1577271 | 1549159 | G | GGGCATCC others(4): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 367 | 0.0027 | 11 | c.*73 others(22): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 4891 | chr11 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57161324 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0373 | 1 | 446 | 0.0022 | 11 | c.26- others(24): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172002 | C | CGAGGGGG others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG01884.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0076 others(9): Show |
12 | 446 | 0.0269 | 11 | c.-45 others(22): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4518 | chr19 | TogoVar | |||||||
DVL2_chr17_7220342_7239517 | 7233087 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0051 | 1 | 406 | 0.0025 | 11 | c.194 others(26): Show |
DVL2 | ENSG00000004975.12 | transcript | ENST00000005340.10 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
DVL3_chr3_184150377_184178614 | 184153304 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 |
4 | 400 | 0.0100 | 11 | c.-23 others(22): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 2072 | chr3 | TogoVar | |||||||
DVL3_chr3_184150377_184178614 | 184174585 | G | GAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 400 | 0.0025 | 11 | c.*38 others(22): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 972 | chr3 | TogoVar | |||||||
DYDC1_chr10_80331105_80361755 | 80346444 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03491.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0122 others(1): Show |
4 | 366 | 0.0109 | 11 | c.250 others(28): Show |
DYDC1 | ENSG00000170788.14 | transcript | ENST00000372202.6 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49080150 | C | CGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG01358.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0188 others(10): Show |
13 | 290 | 0.0448 | 11 | c.202 others(32): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49195916 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0040a0001c0002t0001 | a0001c0001t0001g0233 a0001c0001t0040g0230 a0001c0002t0001g0150 others(4): Show |
7 | 290 | 0.0241 | 11 | c.162 others(32): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49249293 | T | TATTATTA others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02145.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 others(2): Show |
5 | 290 | 0.0172 | 11 | c.146 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49252216 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG00735.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0028 a0001c0001t0002g0034 a0001c0001t0002g0199 others(18): Show |
21 | 290 | 0.0724 | 11 | c.146 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49313462 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0220 a0001c0001t0002g0168 |
2 | 290 | 0.0069 | 11 | c.763 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317597 | C | CTCTCTCT others(4): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02155.hp2 HG03209.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0010g0273 others(4): Show |
7 | 290 | 0.0241 | 11 | c.763 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317627 | C | CTCCTATC others(4): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18612.hp1 NA19065.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0165 a0001c0001t0003g0226 a0001c0001t0003g0227 others(1): Show |
4 | 290 | 0.0138 | 11 | c.763 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317650 | T | TCTCCTCT others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01257.hp1 HG02886.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0220 a0001c0001t0002g0205 a0001c0001t0002g0216 others(9): Show |
12 | 290 | 0.0414 | 11 | c.763 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440935 | A | ATAATATA others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19009.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0010 a0001c0001t0003g0097 a0001c0001t0005g0268 |
3 | 290 | 0.0103 | 11 | c.-53 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49441275 | A | AATTATAT others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp1 others(26): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0081 others(26): Show |
29 | 290 | 0.1000 | 11 | c.-53 others(30): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYNC1H1_chr14_101959573_102061443 | 101998879 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0008a0001c0041 | a0001c0008t0016a0001c0008t0017a0001c0008t0045others(3): Show | a0001c0008t0016g0243 a0001c0008t0016g0256 a0001c0008t0017g0241 others(5): Show |
8 | 280 | 0.0286 | 11 | c.380 others(30): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 16/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 101998879 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02083.hp2 HG02273.hp2 others(6): Show |
a0001a0003a0009 | a0001c0006a0003c0012a0009c0019 | a0001c0006t0006a0003c0012t0001a0009c0019t0006 | a0001c0006t0006g0258 a0001c0006t0006g0259 a0001c0006t0006g0262 others(6): Show |
9 | 280 | 0.0321 | 11 | c.380 others(30): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 16/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047663 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0015 | a0001c0015t0053 | a0001c0015t0053g0154 | 1 | 280 | 0.0036 | 11 | c.130 others(30): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95846623 | C | CTTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 230 | 0.0044 | 11 | c.374 others(30): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95954915 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0174 | 1 | 230 | 0.0044 | 11 | c.491 others(30): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 96081079 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0122 others(3): Show |
6 | 230 | 0.0261 | 11 | c.177 others(28): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |