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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP4_chr20_36301339_36533633 | 36310181 | AAAGAAAG others(28): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02630.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(4): Show | a0001c0001t0001g0115 a0001c0001t0002g0111 a0001c0001t0018g0110 others(4): Show |
7 | 141 | 0.0496 | -35 | c.-30 others(54): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLST_chr14_74876916_74908743 | 74883137 | TACAAAAA others(28): Show |
T | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0172 | 1 | 390 | 0.0026 | -35 | c.97+ others(48): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 2/14 | chr14 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32452293 | GAAAAGGA others(28): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01109.hp1 others(13): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0053others(8): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(11): Show | a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0010g0008 others(13): Show |
16 | 104 | 0.1538 | -35 | c.360 others(54): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55155452 | GGAGGGGC others(28): Show |
G | downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 396 | 0.0025 | -35 | c.*35 others(46): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3212 | chr19 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229554857 | AAAGAGAA others(28): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG03195.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0022 a0002c0003t0001g0105 |
2 | 88 | 0.0227 | -35 | c.848 others(52): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229640457 | CAGAAATA others(28): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG03927.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0012 a0001c0001t0001g0121 a0001c0001t0004g0091 |
3 | 174 | 0.0172 | -35 | c.277 others(54): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNTTIP1_chr20_45786954_45816418 | 45800687 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 410 | 0.0024 | -35 | c.373 others(50): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800689 | AAAAAAAT others(28): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0017 |
2 | 401 | 0.0050 | -35 | c.373 others(50): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800691 | AAAAATAT others(28): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(7): Show |
28 | 395 | 0.0709 | -35 | c.373 others(50): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800693 | AAATATAT others(28): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00733.hp2 others(84): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(25): Show |
87 | 370 | 0.2351 | -35 | c.373 others(50): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800695 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02135.hp1 HG03017.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0071 others(1): Show |
9 | 374 | 0.0241 | -35 | c.373 others(50): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169792364 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0014 | a0014c0034 | a0014c0034t0001 | a0014c0034t0001g0057 | 1 | 182 | 0.0055 | -35 | c.255 others(56): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 25/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169869560 | CCTTATAA others(28): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0070 | a0002c0070t0001 | a0002c0070t0001g0141 | 1 | 182 | 0.0055 | -35 | c.279 others(56): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DOCK5_chr8_25179689_25420711 | 25216981 | CAATATGT others(28): Show |
C | intron_variant | MODIFIER | HG03225.hp2 NA18959.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0012a0001c0008t0003 | a0001c0002t0012g0180 a0001c0008t0003g0136 |
2 | 167 | 0.0120 | -35 | c.44- others(52): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577610 | CACACACA others(28): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0212 | 1 | 395 | 0.0025 | -35 | c.*66 others(44): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 662 | chr21 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577654 | CACACACA others(28): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG03195.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0009 | 3 | 424 | 0.0071 | -35 | c.*61 others(44): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 618 | chr21 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577667 | ACACACAC others(28): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03540.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0230 |
2 | 422 | 0.0047 | -35 | c.*60 others(44): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 605 | chr21 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89639115 | ATTCACAT others(28): Show |
A | downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 248 | 0.0040 | -35 | c.*89 others(44): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 683 | chr16 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154431442 | CTTTCTTT others(28): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02083.hp1 NA20905.hp2 |
a0001a0002 | a0001c0007a0002c0002a0002c0019 | a0001c0007t0019a0002c0002t0002a0002c0019t0001 | a0001c0007t0019g0037 a0002c0002t0002g0021 a0002c0019t0001g0020 |
3 | 19 | 0.1579 | -35 | c.244 others(54): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132187330 | GGCCCGGC others(28): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0204 | 1 | 416 | 0.0024 | -35 | c.39+ others(48): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132187334 | CGGCCCGG others(28): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(115): Show |
243 | 382 | 0.6361 | -35 | c.39+ others(48): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPYS_chr8_104374431_104472055 | 104406044 | AAGTAACT others(28): Show |
A | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 378 | 0.0026 | -35 | c.123 others(56): Show |
DPYS | ENSG00000147647.13 | transcript | ENST00000351513.7 | protein_coding | 7/9 | chr8 | TogoVar | |||||||
DRD3_chr3_114122580_114184052 | 114156737 | CTTTCTTT others(28): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200 | 1 | 352 | 0.0028 | -35 | c.383 others(52): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31397456 | ATATATAT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01358.hp2 HG02258.hp1 others(12): Show |
a0001a0003a0004 | a0001c0003a0003c0006a0004c0015others(1): Show | a0001c0003t0003a0003c0006t0003a0004c0015t0003others(1): Show | a0001c0003t0003g0090 a0001c0003t0003g0099 a0001c0003t0003g0117 others(12): Show |
15 | 320 | 0.0469 | -35 | c.*39 others(46): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 3037 | chr5 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117577499 | TTCCTTCC others(28): Show |
T | intron_variant | MODIFIER | NA18989.hp2 | a0006 | a0006c0065 | a0006c0065t0001 | a0006c0065t0001g0094 | 1 | 147 | 0.0068 | -35 | c.512 others(54): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117769213 | TTATATAT others(28): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0041 | 1 | 102 | 0.0098 | -35 | c.511 others(52): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSEL_chr18_67501587_67521720 | 67521636 | GGGAATAC others(28): Show |
G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0021a0002c0002t0067 | a0001c0003t0021g0024 a0002c0002t0067g0105 |
4 | 420 | 0.0095 | -35 | c.-61 others(46): Show |
DSEL | ENSG00000171451.15 | transcript | ENST00000310045.9 | protein_coding | 4917 | chr18 | TogoVar | |||||||
DSG3_chr18_31442741_31483702 | 31457547 | CTCTTTCT others(28): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0007 | a0001c0007t0023 | a0001c0007t0023g0124 | 1 | 315 | 0.0032 | -35 | c.216 others(50): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DSTYK_chr1_205137505_205216702 | 205141718 | TTCAGTTG others(28): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0320 | 1 | 346 | 0.0029 | -35 | c.*58 others(46): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 786 | chr1 | TogoVar | |||||||
DTHD1_chr4_36276616_36352511 | 36332187 | AAAAATAA others(28): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01167.hp2 others(25): Show |
a0001a0006a0018 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0002t0004a0001c0002t0012others(7): Show | a0001c0001t0003g0006 a0001c0002t0004g0009 a0001c0002t0004g0076 others(22): Show |
28 | 68 | 0.4118 | -35 | c.234 others(54): Show |
DTHD1 | ENSG00000197057.10 | transcript | ENST00000639862.2 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34768407 | GCACTCAA others(28): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03130.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0033 a0001c0001t0003g0004 a0001c0001t0005g0024 others(3): Show |
6 | 110 | 0.0545 | -35 | c.148 others(52): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34768421 | GGTGGACA others(28): Show |
G | intron_variant | MODIFIER | HG03453.hp1 HG03486.hp2 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0002g0022 |
3 | 110 | 0.0273 | -35 | c.148 others(52): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37509232 | CTATATAC others(28): Show |
C | intron_variant | MODIFIER | HG01109.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 a0001c0001t0002g0188 |
2 | 415 | 0.0048 | -35 | c.-18 others(54): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57172053 | GGGGGCGT others(28): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0143 a0001c0001t0002g0009 a0001c0001t0002g0138 |
3 | 437 | 0.0069 | -35 | c.-46 others(46): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4569 | chr19 | TogoVar | |||||||
DYNC1H1_chr14_101959573_102061443 | 102057684 | CAACACCT others(28): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02809.hp1 |
a0001 | a0001c0023a0001c0024 | a0001c0023t0019a0001c0024t0020 | a0001c0023t0019g0240 a0001c0024t0020g0239 |
2 | 272 | 0.0074 | -35 | c.*71 others(46): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 1242 | chr14 | TogoVar | |||||||
DYNC1I2_chr2_171682469_171755158 | 171737794 | CTGAGTAG others(28): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292 | 1 | 332 | 0.0030 | -35 | c.153 others(54): Show |
DYNC1I2 | ENSG00000077380.16 | transcript | ENST00000397119.8 | protein_coding | 15/17 | chr2 | TogoVar | |||||||
ECHDC2_chr1_52890910_52926740 | 52898718 | GACTAGAT others(28): Show |
G | intron_variant | MODIFIER | HG03130.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0003c0004t0001 | a0002c0003t0001g0036 a0002c0003t0001g0126 a0003c0004t0001g0124 others(1): Show |
5 | 312 | 0.0160 | -35 | c.753 others(50): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69612261 | GTTTTATT others(28): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02145.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0004g0136 others(5): Show |
8 | 20 | 0.4000 | -35 | c.-40 others(46): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 3851 | chrX | TogoVar | |||||||
EDDM13_chr19_56267748_56315454 | 56302675 | CCTTCCCT others(28): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 394 | 0.0025 | -35 | c.423 others(50): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84160744 | TCTTTCCT others(28): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0021 a0001c0001t0001g0121 a0001c0001t0002g0008 others(3): Show |
6 | 42 | 0.1429 | -35 | c.355 others(54): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36271849 | CTATTCTA others(28): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp1 HG00733.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0148 a0001c0001t0002g0236 a0001c0001t0002g0265 others(25): Show |
28 | 344 | 0.0814 | -35 | c.931 others(52): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EHD1_chr11_64846642_64883621 | 64861580 | CTACAGCT others(28): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0012a0001c0004t0031 | a0001c0004t0012g0031 a0001c0004t0012g0141 a0001c0004t0012g0143 others(1): Show |
5 | 352 | 0.0142 | -35 | c.503 others(52): Show |
EHD1 | ENSG00000110047.18 | transcript | ENST00000320631.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
EHD2_chr19_47708422_47748134 | 47718772 | ATCTGAGG others(28): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0065 | 1 | 357 | 0.0028 | -35 | c.502 others(50): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137720012 | ACACAGTC others(28): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01346.hp1 NA18979.hp2 |
a0001a0004 | a0001c0001a0001c0011a0004c0013 | a0001c0001t0001a0001c0011t0001a0004c0013t0001 | a0001c0001t0001g0163 a0001c0011t0001g0034 a0004c0013t0001g0031 |
3 | 144 | 0.0208 | -35 | c.642 others(52): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137818595 | GGCGCCAT others(28): Show |
G | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 151 | 0.0066 | -35 | c.354 others(52): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137819545 | GGCGCCGT others(28): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 168 | 0.0060 | -35 | c.354 others(54): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 20981484 | GCATACAT others(28): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(59): Show |
a0001a0007 | a0001c0001a0001c0009a0007c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0207 others(59): Show |
62 | 310 | 0.2000 | -35 | c.199 others(50): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20981515 | ATATACAT others(28): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02486.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001 | a0001c0001t0009g0195 a0001c0001t0009g0196 a0001c0002t0001g0076 others(11): Show |
14 | 306 | 0.0458 | -35 | c.199 others(50): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3296210 | TACACAGA others(28): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 others(93): Show |
96 | 248 | 0.3871 | -35 | c.260 others(54): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23779979 | TAAAAAAA others(28): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01099.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0113 others(21): Show |
24 | 25 | 0.9600 | -35 | c.-15 others(54): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 1/6 | chr9 | TogoVar |