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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNMBP_chr10_99870577_100014947 | 99891838 | TGTGAGGA others(33): Show |
T | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0198 | 1 | 272 | 0.0037 | -40 | c.315 others(59): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25300712 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0186 | a0001c0001t0186g0176 | 1 | 97 | 0.0103 | -40 | c.73- others(53): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
DNTTIP1_chr20_45786954_45816418 | 45800690 | AAAAAATA others(33): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0024 | 1 | 366 | 0.0027 | -40 | c.373 others(55): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800692 | AAAATATA others(33): Show |
A | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 385 | 0.0026 | -40 | c.373 others(55): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127303651 | GAGTGCAA others(33): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp1 HG02280.hp1 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(19): Show | a0001c0001t0002g0032 a0001c0001t0003g0050 a0001c0004t0002g0135 others(21): Show |
24 | 134 | 0.1791 | -40 | c.304 others(61): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 29/51 | chr10 | TogoVar | |||||||
DOCK3_chr3_50669927_51389198 | 50803589 | ACACCTCC others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00735.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0008 | a0001c0001t0001a0001c0001t0005a0001c0014t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(22): Show |
25 | 210 | 0.1190 | -40 | c.121 others(59): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51248869 | CCTCTGCC others(33): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 210 | 0.0048 | -40 | c.218 others(59): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 22/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51308793 | AGCTGCCG others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02004.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0002g0174 |
3 | 210 | 0.0143 | -40 | c.292 others(59): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 27/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK4_chr7_111721110_112211399 | 111933070 | ATATATAC others(33): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0002g0044 |
2 | 103 | 0.0194 | -40 | c.106 others(59): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 12/52 | chr7 | TogoVar | |||||||
DOCK5_chr8_25179689_25420711 | 25410964 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02155.hp2 others(15): Show |
a0001a0003a0015others(1): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0004a0001c0002t0080a0001c0002t0081others(10): Show | a0001c0002t0004g0037 a0001c0002t0004g0113 a0001c0002t0080g0090 others(15): Show |
18 | 208 | 0.0865 | -40 | c.550 others(57): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 51/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOK2_chr8_21903873_21918690 | 21916250 | GAACTGAT others(33): Show |
G | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0030 | 1 | 440 | 0.0023 | -40 | c.-26 others(51): Show |
DOK2 | ENSG00000147443.13 | transcript | ENST00000276420.9 | protein_coding | 2561 | chr8 | TogoVar | |||||||
DOK5_chr20_54470593_54656169 | 54481050 | TGTCTATC others(33): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02970.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0001a0001c0002t0015 | a0001c0001t0014g0001 a0001c0002t0001g0002 a0001c0002t0015g0130 |
3 | 128 | 0.0234 | -40 | c.66+ others(55): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
DOK6_chr18_69395888_69854087 | 69811541 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0069 | a0001c0003t0069g0028 | 1 | 168 | 0.0060 | -40 | c.857 others(59): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577604 | TACACACA others(33): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02080.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0112 others(5): Show |
8 | 79 | 0.1013 | -40 | c.*66 others(49): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 663 | chr21 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619547 | TTCCCCCT others(33): Show |
T | intron_variant | MODIFIER | HG02129.hp1 HG02280.hp1 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 others(2): Show |
5 | 204 | 0.0245 | -40 | c.-10 others(59): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619587 | GTCCCCCT others(33): Show |
G | intron_variant | MODIFIER | HG00673.hp1 NA19054.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0166 a0002c0002t0003g0167 |
2 | 201 | 0.0100 | -40 | c.-10 others(59): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP2NB_chr16_68008436_68020911 | 68010077 | CTTCCTTC others(33): Show |
C | downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 360 | 0.0028 | -40 | c.*39 others(51): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 3358 | chr16 | TogoVar | |||||||
DPEP3_chr16_67970663_67985499 | 67984723 | CAGGTGCC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 330 | 0.0030 | -40 | c.-43 others(51): Show |
DPEP3 | ENSG00000141096.6 | transcript | ENST00000268793.6 | protein_coding | 4225 | chr16 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72892942 | TGGAAGGA others(33): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0192 | 1 | 26 | 0.0385 | -40 | c.32+ others(55): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPP10_chr2_114437641_115850780 | 114497308 | TACATGTA others(33): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG02922.hp2 others(2): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0003 | a0001c0004t0007a0002c0001t0002a0003c0003t0003 | a0001c0004t0007g0054 a0002c0001t0002g0037 a0002c0001t0002g0055 others(2): Show |
5 | 56 | 0.0893 | -40 | c.60+ others(57): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154431442 | CTTTCTTT others(33): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02280.hp2 HG02486.hp1 others(9): Show |
a0001a0002 | a0001c0003a0001c0010a0001c0015others(8): Show | a0001c0003t0008a0001c0010t0010a0001c0015t0017others(9): Show | a0001c0003t0008g0025 a0001c0010t0010g0009 a0001c0015t0017g0036 others(9): Show |
12 | 28 | 0.4286 | -40 | c.244 others(59): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP7_chr9_137105546_137119733 | 137114132 | CCCCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0059 | 1 | 450 | 0.0022 | -40 | c.321 others(54): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
DPP7_chr9_137105546_137119733 | 137114173 | CCCCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02717.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0003t0001a0003c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0078 others(3): Show |
15 | 451 | 0.0333 | -40 | c.321 others(53): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
DPY19L1_chr7_34923881_35042485 | 35040265 | TTCATTTT others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0057 | 1 | 326 | 0.0031 | -40 | c.-29 others(51): Show |
DPY19L1 | ENSG00000173852.16 | transcript | ENST00000638088.2 | protein_coding | 2781 | chr7 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97134012 | AAAATATA others(33): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG02165.hp1 HG02717.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0002c0002t0003a0003c0003t0001others(1): Show | a0001c0001t0003g0025 a0001c0001t0003g0028 a0002c0002t0003g0018 others(3): Show |
6 | 46 | 0.1304 | -40 | c.262 others(61): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97195634 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02976.hp1 HG03579.hp1 others(2): Show |
a0002a0006 | a0002c0002a0002c0010a0006c0006 | a0002c0002t0001a0002c0002t0002a0002c0010t0002others(1): Show | a0002c0002t0001g0008 a0002c0002t0001g0047 a0002c0002t0002g0010 others(2): Show |
5 | 9 | 0.5556 | -40 | c.244 others(59): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 19/22 | chr1 | TogoVar | |||||||
DPYSL2_chr8_26509031_26663175 | 26568703 | AGATGAAA others(33): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(104): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0073 a0001c0001t0002g0105 a0001c0001t0002g0119 others(104): Show |
107 | 314 | 0.3408 | -40 | c.355 others(59): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
DPYSL4_chr10_132181948_132210759 | 132187344 | CTGCCCGG others(33): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03453.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0038 | 2 | 414 | 0.0048 | -40 | c.39+ others(53): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DRC7_chr16_57689806_57736805 | 57705773 | TCCATCCA others(33): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01099.hp2 HG01928.hp2 others(20): Show |
a0001a0013 | a0001c0001a0013c0037 | a0001c0001t0001a0013c0037t0001 | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0087 others(15): Show |
23 | 386 | 0.0596 | -40 | c.858 others(55): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DSTN_chr20_17565075_17614919 | 17567917 | TAGGGGGG others(33): Show |
T | upstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 346 | 0.0029 | -40 | c.-22 others(51): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 2157 | chr20 | TogoVar | |||||||
DTHD1_chr4_36276616_36352511 | 36332187 | AAAAATAA others(33): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG03195.hp2 others(2): Show |
a0001a0006 | a0001c0002a0001c0004a0006c0010 | a0001c0002t0018a0001c0004t0004a0006c0010t0004 | a0001c0002t0018g0066 a0001c0002t0018g0201 a0001c0002t0018g0202 others(2): Show |
5 | 45 | 0.1111 | -40 | c.234 others(59): Show |
DTHD1 | ENSG00000197057.10 | transcript | ENST00000639862.2 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DTYMK_chr2_241670747_241691815 | 241689950 | TCCAGAGG others(33): Show |
T | upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 418 | 0.0024 | -40 | c.-32 others(51): Show |
DTYMK | ENSG00000168393.13 | transcript | ENST00000305784.7 | protein_coding | 3136 | chr2 | TogoVar | |||||||
DUSP16_chr12_12468282_12567863 | 12565914 | TGGAAGTG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0159 | 1 | 350 | 0.0029 | -40 | c.-42 others(51): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 3052 | chr12 | TogoVar | |||||||
DUSP16_chr12_12468282_12567863 | 12565941 | CGCCATCC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 318 | 0.0031 | -40 | c.-42 others(51): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 3079 | chr12 | TogoVar | |||||||
DUSP16_chr12_12468282_12567863 | 12566120 | ACCCTCCG others(33): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0340 | 1 | 350 | 0.0029 | -40 | c.-44 others(51): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 3258 | chr12 | TogoVar | |||||||
DUSP16_chr12_12468282_12567863 | 12566162 | CCTCCGCC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp1 HG02976.hp2 HG03130.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0002c0003t0004a0003c0005t0043 | a0001c0001t0001g0182 a0001c0001t0001g0183 a0002c0003t0004g0268 others(1): Show |
4 | 350 | 0.0114 | -40 | c.-44 others(51): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 3300 | chr12 | TogoVar | |||||||
DUSP29_chr10_75032472_75078642 | 75070070 | AAAGGAAG others(33): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0157 | 1 | 7 | 0.1429 | -40 | c.-35 others(57): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
DUSP7_chr3_52043919_52061571 | 52045855 | CTGTGTGT others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | -40 | c.*49 others(51): Show |
DUSP7 | ENSG00000164086.10 | transcript | ENST00000495880.2 | protein_coding | 3063 | chr3 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1349974 | TGGGAGGA others(33): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01496.hp2 HG02165.hp1 others(2): Show |
a0001 | a0001c0001a0001c0016a0001c0020 | a0001c0001t0001a0001c0001t0003a0001c0016t0001others(1): Show | a0001c0001t0001g0141 a0001c0001t0003g0014 a0001c0001t0003g0065 others(2): Show |
5 | 90 | 0.0556 | -40 | c.-94 others(49): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 557 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1350326 | AGGAGCGA others(33): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01261.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 |
3 | 331 | 0.0091 | -40 | c.-13 others(51): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 909 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1350361 | GGGGCTGG others(33): Show |
G | upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 333 | 0.0030 | -40 | c.-13 others(51): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 944 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1350441 | CGGGCAGG others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0017 | a0001c0017t0008 | a0001c0017t0008g0067 | 1 | 313 | 0.0032 | -40 | c.-14 others(51): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1024 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1350801 | CGGGCAGG others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0017 | a0001c0017t0008 | a0001c0017t0008g0067 | 1 | 297 | 0.0034 | -40 | c.-17 others(51): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1384 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1351126 | AGGAGCGA others(33): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 109 | 0.0092 | -40 | c.-21 others(51): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1709 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1351166 | TGGAGCGA others(33): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 73 | 0.0137 | -40 | c.-21 others(51): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1749 | chr1 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49202786 | CCTCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 288 | 0.0035 | -40 | c.162 others(59): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49393091 | GGGAAGGA others(33): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0244 | 1 | 60 | 0.0167 | -40 | c.141 others(57): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 2/17 | chr18 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4600124 | CTAGAAGT others(33): Show |
C | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0370 | 1 | 412 | 0.0024 | -40 | c.112 others(57): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71543202 | ACGCTCCT others(33): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00642.hp2 others(62): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0003a0001c0004others(26): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(32): Show | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 others(62): Show |
65 | 190 | 0.3421 | -40 | c.148 others(59): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 16/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71571470 | GCACACAC others(33): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0091 | 1 | 190 | 0.0053 | -40 | c.317 others(57): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 29/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |