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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DSTYK_chr1_205137505_205216702 | 205171479 | C | CTTTGAGG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(118): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0008a0001c0015others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(8): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(113): Show |
121 | 326 | 0.3712 | 7 | c.655 others(24): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56461234 | A | ATGTATGT | intron_variant | MODIFIER | HG02145.hp1 HG06807.hp2 |
a0026a0042 | a0026c0055a0042c0019 | a0026c0055t0002a0042c0019t0002 | a0026c0055t0002g0021 a0042c0019t0002g0073 |
2 | 82 | 0.0244 | 7 | c.230 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 102/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56503628 | C | CACACACA | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 |
a0001a0019 | a0001c0005a0019c0025 | a0001c0005t0001a0019c0025t0001 | a0001c0005t0001g0079 a0019c0025t0001g0037 |
2 | 81 | 0.0247 | 7 | c.195 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 78/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56514606 | C | CACACACA | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 |
a0020a0021 | a0020c0014a0021c0048 | a0020c0014t0001a0021c0048t0001 | a0020c0014t0001g0057 a0021c0048t0001g0040 |
2 | 45 | 0.0444 | 7 | c.185 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 72/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56844871 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01433.hp1 others(2): Show |
a0001a0008a0017others(1): Show | a0001c0005a0008c0015a0017c0023others(1): Show | a0001c0005t0001a0008c0015t0001a0017c0023t0001others(1): Show | a0001c0005t0001g0079 a0001c0005t0001g0080 a0008c0015t0001g0058 others(2): Show |
5 | 55 | 0.0909 | 7 | c.625 others(24): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56934560 | T | TTATATTA | intron_variant | MODIFIER | HG01884.hp1 HG03209.hp2 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0014 a0006c0007t0001g0071 |
2 | 25 | 0.0800 | 7 | c.216 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2/103 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18649326 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01496.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0017 others(4): Show |
7 | 94 | 0.0745 | 7 | c.477 others(26): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18708223 | A | ATATATTG | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0196 a0001c0001t0003g0166 a0001c0001t0003g0167 others(42): Show |
45 | 396 | 0.1136 | 7 | c.478 others(26): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18744655 | A | AAAAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00609.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0312 others(25): Show |
28 | 46 | 0.6087 | 7 | c.*19 others(22): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 5/5 | chr20 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18753607 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0010g0382 others(3): Show |
6 | 87 | 0.0690 | 7 | c.*19 others(24): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18766737 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0012others(1): Show | a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 others(20): Show |
23 | 160 | 0.1438 | 7 | c.*33 others(18): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 94 | chr20 | TogoVar | |||||||
DTL_chr1_212030748_212110013 | 212051442 | C | CTTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02523.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0158 a0001c0001t0001g0170 others(3): Show |
6 | 30 | 0.2000 | 7 | c.460 others(24): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DTNBP1_chr6_15517807_15668028 | 15532697 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01496.hp1 others(21): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0075 others(21): Show |
24 | 63 | 0.3810 | 7 | c.667 others(22): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 8/9 | chr6 | TogoVar | |||||||
DTNBP1_chr6_15517807_15668028 | 15667464 | T | TGTCTTGC | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01099.hp2 others(46): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0228 others(46): Show |
49 | 312 | 0.1571 | 7 | c.-45 others(18): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 4437 | chr6 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25662679 | C | CACACACA | intron_variant | MODIFIER | NA20300.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0043 |
2 | 132 | 0.0152 | 7 | c.-1- others(24): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 1/20 | chr2 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76468758 | A | ATTTTTTT | intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 HG03130.hp2 others(2): Show |
a0001a0002a0005 | a0001c0003a0002c0011a0005c0006 | a0001c0003t0001a0002c0011t0003a0005c0006t0001 | a0001c0003t0001g0266 a0001c0003t0001g0267 a0002c0011t0003g0265 others(2): Show |
5 | 53 | 0.0943 | 7 | c.-90 others(24): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX3L_chr3_122559338_122580203 | 122562158 | C | CTTTTCTT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(75): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0051 others(44): Show |
78 | 469 | 0.1663 | 7 | c.-22 others(18): Show |
DTX3L | ENSG00000163840.10 | transcript | ENST00000296161.9 | protein_coding | 2179 | chr3 | TogoVar | |||||||
DUS2_chr16_68018284_68084320 | 68054742 | G | GGTTAAGA | intron_variant | MODIFIER | HG01891.hp2 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0213 a0001c0001t0001g0214 a0002c0005t0001g0209 others(3): Show |
6 | 232 | 0.0259 | 7 | c.308 others(22): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DUS3L_chr19_5780140_5796163 | 5781378 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01169.hp2 HG01891.hp2 others(4): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0001a0001c0016t0001 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0015 others(2): Show |
7 | 218 | 0.0321 | 7 | c.*38 others(18): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 3761 | chr19 | TogoVar | |||||||
DUSP26_chr8_33586330_33605023 | 33590730 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0037 others(14): Show |
25 | 241 | 0.1037 | 7 | c.*12 others(18): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 599 | chr8 | TogoVar | |||||||
DUSP26_chr8_33586330_33605023 | 33595358 | T | TTTTGTTG | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011 | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0037 others(14): Show |
27 | 410 | 0.0659 | 7 | c.222 others(24): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
DUSP29_chr10_75032472_75078642 | 75074311 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0020 a0003c0003t0001g0229 |
4 | 310 | 0.0129 | 7 | c.-77 others(16): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 670 | chr10 | TogoVar | |||||||
DUSP9_chrX_153642203_153656326 | 153650657 | C | CCACAGGG | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(10): Show |
51 | 326 | 0.1564 | 7 | c.*35 others(16): Show |
DUSP9 | ENSG00000130829.18 | transcript | ENST00000342782.4 | protein_coding | 4/4 | 353 | chrX | TogoVar | ||||||
DVL3_chr3_184150377_184178614 | 184153304 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(33): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(10): Show |
36 | 188 | 0.1915 | 7 | c.-23 others(18): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 2072 | chr3 | TogoVar | |||||||
DYDC2_chr10_80351781_80373073 | 80372311 | A | AAGAAAAG | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02647.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0009 a0001c0001t0001g0121 a0004c0008t0001g0009 |
8 | 379 | 0.0211 | 7 | c.*53 others(18): Show |
DYDC2 | ENSG00000133665.13 | transcript | ENST00000256039.3 | protein_coding | 4239 | chr10 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49145547 | G | GAAATTGT | intron_variant | MODIFIER | HG01256.hp1 HG01358.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0264 others(2): Show |
5 | 288 | 0.0174 | 7 | c.172 others(28): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 15/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49184722 | A | ACACTATG | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 others(2): Show |
5 | 288 | 0.0174 | 7 | c.162 others(28): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49252216 | C | CAAAAAAA | intron_variant | MODIFIER | HG01358.hp1 HG02257.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0146 a0001c0001t0001g0233 a0001c0001t0002g0235 others(8): Show |
11 | 19 | 0.5789 | 7 | c.146 others(26): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 13/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317597 | C | CTCTCTCT | intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG01975.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0177 a0001c0001t0002g0196 others(9): Show |
12 | 181 | 0.0663 | 7 | c.763 others(26): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49324138 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG01515.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0193 a0001c0001t0003g0227 a0001c0001t0003g0231 others(5): Show |
8 | 42 | 0.1905 | 7 | c.763 others(24): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49393083 | G | GGGGAGGA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02004.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0032 others(6): Show |
9 | 288 | 0.0313 | 7 | c.141 others(24): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 2/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440837 | A | ATTTATAT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0142 a0001c0001t0002g0287 a0001c0001t0003g0115 others(25): Show |
28 | 288 | 0.0972 | 7 | c.-53 others(26): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49441106 | T | TATATATA | intron_variant | MODIFIER | HG02015.hp1 HG03942.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 a0001c0001t0003g0225 a0001c0001t0003g0228 others(1): Show |
4 | 284 | 0.0141 | 7 | c.-53 others(26): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYNC1H1_chr14_101959573_102061443 | 101998879 | C | CTTTTTTT | intron_variant | MODIFIER | HG03098.hp1 HG03471.hp1 HG03516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0189 others(4): Show |
7 | 132 | 0.0530 | 7 | c.380 others(26): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 16/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102053751 | G | GTTTGTTT | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG02273.hp2 HG03688.hp2 others(9): Show |
a0001a0006 | a0001c0006a0006c0019 | a0001c0006t0007a0006c0019t0023 | a0001c0006t0007g0004 a0001c0006t0007g0257 a0001c0006t0007g0258 others(8): Show |
12 | 225 | 0.0533 | 7 | c.*31 others(18): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 78/78 | 3192 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DYNC1H1_chr14_101959573_102061443 | 102057712 | C | CAACACCT | downstream_gene_variant | MODIFIER | HG01346.hp2 HG03688.hp1 NA18963.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0059 a0001c0002t0001g0130 a0001c0002t0001g0250 others(1): Show |
4 | 122 | 0.0328 | 7 | c.*71 others(18): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 1270 | chr14 | TogoVar | |||||||
DYNC2H1_chr11_103104426_103484863 | 103288684 | T | TAAAAAAA | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02486.hp1 others(2): Show |
a0002 | a0002c0007a0002c0009a0002c0026 | a0002c0007t0001a0002c0009t0001a0002c0026t0001 | a0002c0007t0001g0070 a0002c0007t0001g0071 a0002c0009t0001g0251 others(2): Show |
5 | 122 | 0.0410 | 7 | c.110 others(28): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 75/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103483022 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02015.hp2 HG02040.hp2 HG03139.hp1 others(3): Show |
a0002a0003a0012 | a0002c0003a0003c0002a0012c0019 | a0002c0003t0001a0003c0002t0001a0012c0019t0001 | a0002c0003t0001g0016 a0002c0003t0001g0038 a0002c0003t0001g0039 others(3): Show |
6 | 37 | 0.1622 | 7 | c.*37 others(18): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158869820 | T | TTTTAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(158): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0013a0001c0020others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0006 a0001c0001t0002g0003 a0001c0001t0002g0004 others(158): Show |
161 | 272 | 0.5919 | 7 | c.16- others(18): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158937622 | G | GAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(94): Show |
a0001a0002a0012others(4): Show | a0001c0001a0002c0002a0002c0016others(5): Show | a0001c0001t0005a0001c0001t0019a0002c0002t0001others(10): Show | a0001c0001t0005g0139 a0001c0001t0005g0142 a0001c0001t0005g0161 others(94): Show |
97 | 214 | 0.4533 | 7 | c.277 others(26): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I2_chr9_128628653_128661847 | 128640012 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(320): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(271): Show |
323 | 324 | 0.9969 | 7 | c.435 others(22): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 2/8 | chr9 | TogoVar | |||||||
DYNC2I2_chr9_128628653_128661847 | 128649688 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(58): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0005a0001c0003t0001others(4): Show | a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0009 others(42): Show |
61 | 99 | 0.6162 | 7 | c.186 others(24): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATTT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02027.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0002t0001g0015 a0001c0004t0001g0054 |
6 | 190 | 0.0316 | 7 | c.*75 others(16): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636070 | T | TATATATA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02257.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(1): Show |
5 | 330 | 0.0152 | 7 | c.*75 others(16): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 403 | chr6 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37411049 | T | TAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp2 HG01361.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0140 | a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0217 others(3): Show |
6 | 29 | 0.2069 | 7 | c.-76 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37416317 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0128 a0001c0001t0002g0187 a0001c0001t0002g0189 others(19): Show |
23 | 213 | 0.1080 | 7 | c.-76 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37454085 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp1 others(23): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 others(22): Show |
26 | 60 | 0.4333 | 7 | c.11- others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479606 | G | GTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG02056.hp1 HG02293.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032a0001c0001t0046others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0054 others(6): Show |
9 | 290 | 0.0310 | 7 | c.301 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479612 | G | GTTTTTGT | intron_variant | MODIFIER | HG03098.hp2 HG03704.hp1 HG03704.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0086others(2): Show | a0001c0001t0002g0180 a0001c0001t0003g0150 a0001c0001t0003g0199 others(3): Show |
6 | 128 | 0.0469 | 7 | c.301 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479612 | G | GTTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01106.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0021others(3): Show | a0001c0001t0001g0079 a0001c0001t0010g0332 a0001c0001t0021g0241 others(5): Show |
8 | 130 | 0.0615 | 7 | c.301 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |