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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPYSL2_chr8_26509031_26663175 | 26556241 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03453.hp2 HG03831.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0002t0001a0001c0003t0020 | a0001c0001t0007g0206 a0001c0002t0001g0128 a0001c0003t0020g0126 |
3 | 304 | 0.0099 | 9 | c.355 others(28): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556354 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01496.hp1 HG02055.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 others(14): Show |
17 | 188 | 0.0904 | 9 | c.355 others(28): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556354 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00733.hp1 others(31): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0119 a0001c0001t0002g0134 a0001c0001t0002g0141 others(31): Show |
34 | 205 | 0.1659 | 9 | c.355 others(28): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL3_chr5_147385808_147515068 | 147397884 | A | ATAGAAAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(164): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0052 others(161): Show |
167 | 295 | 0.5661 | 9 | c.162 others(24): Show |
DPYSL3 | ENSG00000113657.13 | transcript | ENST00000343218.10 | protein_coding | 11/13 | chr5 | TogoVar | |||||||
DPYSL3_chr5_147385808_147515068 | 147494880 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02258.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0002t0006others(2): Show | a0001c0001t0002g0260 a0001c0001t0002g0283 a0001c0001t0005g0259 others(3): Show |
6 | 124 | 0.0484 | 9 | c.381 others(28): Show |
DPYSL3 | ENSG00000113657.13 | transcript | ENST00000343218.10 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
DPYSL4_chr10_132181948_132210759 | 132205982 | G | GGCCCCCC others(2): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG03490.hp2 NA18944.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0005a0001c0004t0003 | a0001c0003t0005g0009 a0001c0003t0005g0193 a0001c0003t0005g0202 others(1): Show |
5 | 266 | 0.0188 | 9 | c.*10 others(20): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 224 | chr10 | TogoVar | |||||||
DR1_chr1_93340907_93374493 | 93343157 | G | GTTTCATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02074.hp2 HG02109.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0065a0001c0001t0066others(2): Show | a0001c0001t0008g0011 a0001c0001t0008g0108 a0001c0001t0008g0109 others(7): Show |
12 | 358 | 0.0335 | 9 | c.-34 others(20): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 2749 | chr1 | TogoVar | |||||||
DRAM1_chr12_101872580_101928612 | 101895566 | A | ATTTTTGG others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00741.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0157 others(49): Show |
53 | 122 | 0.4344 | 9 | c.132 others(26): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DRAM1_chr12_101872580_101928612 | 101904426 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0083 a0001c0001t0003g0322 a0001c0001t0003g0340 others(5): Show |
8 | 91 | 0.0879 | 9 | c.342 others(26): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
DRAXIN_chr1_11686710_11730857 | 11718000 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01891.hp2 others(11): Show |
a0001a0004a0011others(1): Show | a0001c0001a0004c0006a0011c0012others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(9): Show | a0001c0001t0002g0255 a0001c0001t0003g0214 a0001c0001t0003g0329 others(11): Show |
14 | 168 | 0.0833 | 9 | c.938 others(26): Show |
DRAXIN | ENSG00000162490.7 | transcript | ENST00000294485.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26414115 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01884.hp1 others(11): Show |
a0001a0003a0017 | a0001c0001a0003c0004a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0003c0004t0001others(3): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0043 others(11): Show |
14 | 47 | 0.2979 | 9 | c.156 others(24): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC3_chr17_17967862_18021889 | 18019186 | C | CACACACA others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG00741.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0012 a0001c0001t0001g0189 a0001c0001t0001g0192 others(2): Show |
5 | 313 | 0.0160 | 9 | c.*25 others(20): Show |
DRC3 | ENSG00000171962.19 | transcript | ENST00000399187.6 | protein_coding | 2298 | chr17 | TogoVar | |||||||
DRD3_chr3_114122580_114184052 | 114164220 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00738.hp1 others(25): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0229 others(25): Show |
28 | 145 | 0.1931 | 9 | c.271 others(26): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
DRG2_chr17_18082948_18112969 | 18090406 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02004.hp2 HG03704.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0071 others(1): Show |
6 | 150 | 0.0400 | 9 | c.64+ others(24): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31446446 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp1 others(69): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(12): Show | a0001c0001t0002g0121 a0001c0001t0002g0156 a0001c0001t0002g0187 others(69): Show |
72 | 168 | 0.4286 | 9 | c.288 others(28): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 23/35 | chr5 | TogoVar | |||||||
DSC1_chr18_31124236_31167856 | 31150397 | T | TATCACCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(133): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0009others(12): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0018others(20): Show | a0001c0001t0002g0008 a0001c0001t0002g0037 a0001c0001t0002g0038 others(115): Show |
136 | 251 | 0.5418 | 9 | c.628 others(26): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 5/15 | chr18 | TogoVar | |||||||
DSC1_chr18_31124236_31167856 | 31150397 | T | TGTCATCA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(122): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0013others(7): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(11): Show | a0001c0001t0002g0297 a0001c0004t0001g0029 a0001c0004t0001g0033 others(101): Show |
125 | 240 | 0.5208 | 9 | c.628 others(26): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 5/15 | chr18 | TogoVar | |||||||
DSC3_chr18_30984365_31047742 | 30995971 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01243.hp2 HG01361.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0002g0152 a0001c0001t0002g0339 a0001c0001t0004g0190 others(16): Show |
20 | 161 | 0.1242 | 9 | c.249 others(26): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 15/15 | chr18 | TogoVar | |||||||
DSC3_chr18_30984365_31047742 | 31034870 | G | GATTGTAG others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG02886.hp1 others(7): Show |
a0002a0011a0012 | a0002c0002a0002c0006a0011c0020others(1): Show | a0002c0002t0018a0002c0006t0012a0011c0020t0092others(1): Show | a0002c0002t0018g0320 a0002c0002t0018g0321 a0002c0006t0012g0023 others(6): Show |
10 | 390 | 0.0256 | 9 | c.70- others(24): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117582992 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG02451.hp1 others(6): Show |
a0001a0002 | a0001c0007a0001c0011a0001c0017others(5): Show | a0001c0007t0001a0001c0011t0002a0001c0017t0001others(5): Show | a0001c0007t0001g0158 a0001c0011t0002g0026 a0001c0011t0002g0064 others(6): Show |
9 | 50 | 0.1800 | 9 | c.512 others(28): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117762868 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02976.hp2 HG04184.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0005a0001c0007a0001c0016others(3): Show | a0001c0005t0001a0001c0007t0001a0001c0016t0001others(3): Show | a0001c0005t0001g0093 a0001c0007t0001g0092 a0001c0016t0001g0044 others(3): Show |
6 | 38 | 0.1579 | 9 | c.511 others(28): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117780231 | G | GAAAAAGA others(2): Show |
intron_variant | MODIFIER | HG03710.hp1 HG03834.hp1 NA19030.hp1 others(2): Show |
a0001a0002 | a0001c0012a0001c0024a0001c0053others(2): Show | a0001c0012t0002a0001c0024t0002a0001c0053t0001others(2): Show | a0001c0012t0002g0060 a0001c0024t0002g0036 a0001c0053t0001g0023 others(2): Show |
5 | 152 | 0.0329 | 9 | c.364 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 2/32 | chr11 | TogoVar | |||||||
DSCC1_chr8_119828976_119860894 | 119858600 | C | CATTATTA others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01975.hp1 HG03704.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0007 a0001c0001t0003g0025 a0002c0002t0001g0142 |
3 | 275 | 0.0109 | 9 | c.-28 others(20): Show |
DSCC1 | ENSG00000136982.6 | transcript | ENST00000313655.5 | protein_coding | 2707 | chr8 | TogoVar | |||||||
DSE_chr6_116365947_116449861 | 116446393 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(41): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009others(1): Show | a0001c0001t0002a0001c0001t0020a0001c0001t0031others(4): Show | a0001c0001t0002g0010 a0001c0001t0002g0024 a0001c0001t0002g0032 others(39): Show |
44 | 160 | 0.2750 | 9 | c.*90 others(20): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 1533 | chr6 | TogoVar | |||||||
DSG4_chr18_31371777_31419909 | 31374860 | T | TGGTCTCC others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(214): Show |
a0001a0005a0008others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(135): Show |
217 | 342 | 0.6345 | 9 | c.-20 others(20): Show |
DSG4 | ENSG00000175065.12 | transcript | ENST00000308128.9 | protein_coding | 1916 | chr18 | TogoVar | |||||||
DSPP_chr4_87603529_87621873 | 87615305 | T | TAGTAGTG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(307): Show |
a0001a0003a0004others(24): Show | a0001c0002a0001c0007a0001c0055others(39): Show | a0001c0002t0001a0001c0007t0001a0001c0055t0001others(39): Show | a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0040 others(62): Show |
310 | 448 | 0.6920 | 9 | c.264 others(18): Show |
p.Ser others(22): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 2766/4331 | 2646/3906 | 882/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSPP_chr4_87603529_87621873 | 87616151 | C | CGACAGCA others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02055.hp2 HG02647.hp1 HG02818.hp2 others(3): Show |
a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0009 | 6 | 448 | 0.0134 | 9 | c.349 others(18): Show |
p.Asp others(24): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3612/4331 | 3492/3906 | 1164/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DSTN_chr20_17565075_17614919 | 17583735 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 NA18978.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0093 a0001c0001t0004g0010 a0001c0001t0004g0085 others(3): Show |
7 | 16 | 0.4375 | 9 | c.3+1 others(24): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DSTYK_chr1_205137505_205216702 | 205209893 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG01257.hp1 others(14): Show |
a0001a0002 | a0001c0008a0002c0003 | a0001c0008t0011a0002c0003t0005a0002c0003t0010others(3): Show | a0001c0008t0011g0335 a0001c0008t0011g0336 a0001c0008t0011g0337 others(14): Show |
17 | 323 | 0.0526 | 9 | c.265 others(26): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56593516 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01109.hp1 others(7): Show |
a0004a0014a0019others(4): Show | a0004c0003a0014c0024a0019c0025others(4): Show | a0004c0003t0001a0004c0003t0004a0014c0024t0001others(5): Show | a0004c0003t0001g0008 a0004c0003t0001g0050 a0004c0003t0004g0078 others(7): Show |
10 | 41 | 0.2439 | 9 | c.127 others(28): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 48/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56633233 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03041.hp1 HG03098.hp2 others(6): Show |
a0005a0012a0036others(2): Show | a0005c0004a0012c0009a0036c0011others(2): Show | a0005c0004t0001a0012c0009t0003a0036c0011t0001others(2): Show | a0005c0004t0001g0024 a0005c0004t0001g0026 a0005c0004t0001g0031 others(6): Show |
9 | 57 | 0.1579 | 9 | c.362 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 27/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56717440 | A | AAATTCAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG02056.hp2 others(9): Show |
a0001a0003a0004others(7): Show | a0001c0001a0003c0006a0004c0003others(7): Show | a0001c0001t0001a0003c0006t0001a0004c0003t0001others(7): Show | a0001c0001t0001g0038 a0001c0001t0001g0084 a0003c0006t0001g0007 others(9): Show |
12 | 82 | 0.1463 | 9 | c.688 others(28): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56934560 | T | TTATATTA others(2): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19043.hp1 |
a0006a0045 | a0006c0007a0045c0013 | a0006c0007t0001a0045c0013t0001 | a0006c0007t0001g0013 a0045c0013t0001g0076 |
2 | 25 | 0.0800 | 9 | c.216 others(28): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 2/103 | chr6 | TogoVar | |||||||
DST_chr6_56609597_56647889 | 56633233 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02132.hp1 HG02622.hp2 others(9): Show |
a0003a0005a0008others(1): Show | a0003c0004a0005c0007a0008c0008others(1): Show | a0003c0004t0003a0005c0007t0003a0008c0008t0001others(1): Show | a0003c0004t0003g0050 a0003c0004t0003g0054 a0005c0007t0003g0019 others(7): Show |
12 | 284 | 0.0423 | 9 | c.201 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000370765.11 | protein_coding | 13/23 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18622942 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18947.hp2 NA18951.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0370 a0001c0001t0007g0371 a0001c0001t0007g0372 others(5): Show |
8 | 258 | 0.0310 | 9 | c.371 others(26): 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(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01258.hp1 HG01981.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0022 others(5): Show |
8 | 95 | 0.0842 | 9 | c.477 others(28): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18744655 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01928.hp1 HG02004.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0242 a0001c0001t0001g0300 a0001c0001t0001g0318 others(16): Show |
19 | 37 | 0.5135 | 9 | c.*19 others(24): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 5/5 | chr20 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18753607 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01175.hp1 HG01928.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0043 a0001c0001t0002g0073 a0001c0001t0002g0086 others(16): Show |
20 | 101 | 0.1980 | 9 | c.*19 others(26): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18766737 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG01255.hp2 HG02132.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(1): Show | a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 others(7): Show |
10 | 147 | 0.0680 | 9 | c.*33 others(20): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 94 | chr20 | TogoVar | |||||||
DTL_chr1_212030748_212110013 | 212050720 | G | GAAAGACT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(205): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(185): Show |
208 | 362 | 0.5746 | 9 | c.460 others(26): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34749639 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01192.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0083 others(5): Show |
8 | 109 | 0.0734 | 9 | c.-1- others(24): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTWD2_chr5_118831074_118993547 | 118884996 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02280.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 others(2): Show |
5 | 141 | 0.0355 | 9 | c.598 others(28): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76460518 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG01884.hp1 others(6): Show |
a0002a0005 | a0002c0032a0005c0006a0005c0024 | a0002c0032t0001a0005c0006t0001a0005c0024t0001 | a0002c0032t0001g0256 a0005c0006t0001g0115 a0005c0006t0001g0118 others(6): Show |
9 | 129 | 0.0698 | 9 | c.-15 others(20): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 1190 | chr7 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76468758 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00733.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0031a0002c0007others(2): Show | a0001c0001t0002a0001c0031t0001a0002c0007t0001others(2): Show | a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 others(7): Show |
10 | 58 | 0.1724 | 9 | c.-90 others(26): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76486884 | C | CTGCTGCT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp2 others(11): Show |
a0001a0002a0003 | a0001c0003a0001c0031a0002c0007others(2): Show | a0001c0003t0001a0001c0031t0001a0002c0007t0001others(2): Show | a0001c0003t0001g0158 a0001c0003t0001g0266 a0001c0003t0001g0267 others(11): Show |
14 | 187 | 0.0749 | 9 | c.908 others(26): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DUS1L_chr17_82052506_82070804 | 82070263 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0030 others(7): Show |
38 | 270 | 0.1407 | 9 | c.-46 others(20): Show |
DUS1L | ENSG00000169718.18 | transcript | ENST00000306796.10 | protein_coding | 4460 | chr17 | TogoVar | |||||||
DUS3L_chr19_5780140_5796163 | 5795714 | G | GTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 HG03098.hp1 HG03688.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0002 | a0001c0002t0002g0061 a0002c0001t0002g0001 |
3 | 49 | 0.0612 | 9 | c.-45 others(20): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4552 | chr19 | TogoVar | |||||||
DUS3L_chr19_5780140_5796163 | 5796129 | G | GTCTTCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01361.hp1 HG04115.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 3 | 124 | 0.0242 | 9 | c.-49 others(20): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4967 | chr19 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37485510 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00741.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012 | a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0090 others(21): Show |
29 | 51 | 0.5686 | 9 | c.-46 others(20): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 4380 | chr17 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37511585 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(168): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 others(146): Show |
171 | 218 | 0.7844 | 9 | c.-92 others(24): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |