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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DAB2IP_chr9_121646634_121790530 | 121751147 | GGCTGCTG others(48): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0002a0001c0005t0021a0001c0005t0028others(1): Show | a0001c0005t0002g0014 a0001c0005t0002g0172 a0001c0005t0002g0174 others(3): Show |
6 | 224 | 0.0268 | -55 | c.363 others(72): Show |
DAB2IP | ENSG00000136848.19 | transcript | ENST00000408936.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DBN1_chr5_177451610_177478634 | 177451671 | ACCCTCAG others(48): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0019a0001c0019t0003 | a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0019g0165 others(1): Show |
4 | 346 | 0.0116 | -55 | c.*57 others(66): Show |
DBN1 | ENSG00000113758.14 | transcript | ENST00000393565.6 | protein_coding | 4938 | chr5 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003314 | ATGCACGT others(48): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 412 | 0.0024 | -55 | c.*29 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1556 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003433 | CGGTGGGA others(48): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(3): Show |
6 | 412 | 0.0146 | -55 | c.*28 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1437 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003450 | TTCCCTCC others(48): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 412 | 0.0024 | -55 | c.*28 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1420 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003533 | CATGCACG others(48): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(41): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(25): Show |
44 | 412 | 0.1068 | -55 | c.*27 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1337 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003543 | CGGTGGGA others(48): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0230 | 1 | 412 | 0.0024 | -55 | c.*27 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1327 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003570 | CGGCCCGG others(48): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0165 |
2 | 412 | 0.0049 | -55 | c.*27 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1300 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003625 | TGGCCCGG others(48): Show |
T | downstream_gene_variant | MODIFIER | NA18983.hp2 NA19004.hp1 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0040 |
4 | 412 | 0.0097 | -55 | c.*26 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1245 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003680 | CGGCCCGG others(48): Show |
C | downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | -55 | c.*26 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1190 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003835 | CTCCCTCC others(48): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 412 | 0.0024 | -55 | c.*24 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1035 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003996 | GTGACTCC others(48): Show |
G | downstream_gene_variant | MODIFIER | HG03491.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0279 |
2 | 412 | 0.0049 | -55 | c.*22 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 874 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004010 | TGGCCCGG others(48): Show |
T | downstream_gene_variant | MODIFIER | HG02015.hp1 HG02451.hp2 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0221 a0001c0001t0002g0001 a0001c0001t0002g0004 others(6): Show |
11 | 412 | 0.0267 | -55 | c.*22 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 860 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004151 | CGGGACTT others(48): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(40): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0002 | a0001c0001t0001g0008 a0001c0001t0001g0089 a0001c0001t0001g0159 others(25): Show |
43 | 412 | 0.1044 | -55 | c.*21 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 719 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004261 | TGGGACTT others(48): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG02129.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0200 a0001c0001t0002g0289 others(1): Show |
5 | 412 | 0.0121 | -55 | c.*20 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 609 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004426 | CGGGACTT others(48): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp2 HG02895.hp1 |
a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0025 | 2 | 412 | 0.0049 | -55 | c.*18 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 444 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004438 | GACTCCCT others(48): Show |
G | downstream_gene_variant | MODIFIER | NA18969.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0258 |
2 | 412 | 0.0049 | -55 | c.*18 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 432 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004537 | CGGGACTT others(48): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0201 a0001c0001t0002g0004 |
2 | 412 | 0.0049 | -55 | c.*17 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 333 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004580 | ATGCACGT others(48): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0230 | 1 | 412 | 0.0024 | -55 | c.*17 others(66): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 290 | chr16 | TogoVar | |||||||
DEFA3_chr8_7010869_7023297 | 7021507 | CAACCCCA others(48): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 430 | 0.0023 | -55 | c.-33 others(66): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 3211 | chr8 | TogoVar | |||||||
DENND6A_chr3_57620454_57698077 | 57644733 | AGGGAGGG others(48): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 332 | 0.0030 | -55 | c.103 others(72): Show |
DENND6A | ENSG00000174839.13 | transcript | ENST00000311128.10 | protein_coding | 11/19 | chr3 | TogoVar | |||||||
DGKK_chrX_50360409_50475825 | 50447354 | TATAATAT others(48): Show |
T | intron_variant | MODIFIER | HG02257.hp1 NA20752.hp1 |
a0001a0003 | a0001c0003a0003c0010 | a0001c0003t0002a0003c0010t0001 | a0001c0003t0002g0150 a0003c0010t0001g0228 |
2 | 248 | 0.0081 | -55 | c.645 others(74): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | |||||||
DHRS13_chr17_28892781_28908079 | 28899083 | ACAGGGAC others(48): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 412 | 0.0024 | -55 | c.683 others(70): Show |
DHRS13 | ENSG00000167536.14 | transcript | ENST00000378895.9 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2228378 | AGGAATGA others(48): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA18960.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0012g0027 |
3 | 50 | 0.0600 | -55 | c.805 others(72): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 437094 | ACCTCCTG others(48): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0002 | a0001c0001t0001g0008 a0001c0016t0002g0083 |
2 | 88 | 0.0227 | -55 | c.394 others(72): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 4/36 | chr10 | TogoVar | |||||||
DIPK1C_chr18_74429775_74462308 | 74456111 | CACTATTT others(48): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0369 | 1 | 484 | 0.0021 | -55 | c.198 others(70): Show |
DIPK1C | ENSG00000187773.9 | transcript | ENST00000343998.8 | protein_coding | 1/3 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 992288 | CTTCTCTC others(48): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0001 | 1 | 40 | 0.0250 | -55 | c.73+ others(72): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1024243 | CCCCGTGC others(48): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 40 | 0.0250 | -55 | c.73+ others(74): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452439 | GGGAAAGG others(48): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0013 | a0013c0049 | a0013c0049t0001 | a0013c0049t0001g0073 | 1 | 126 | 0.0079 | -55 | c.360 others(74): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13802979 | AATATATA others(48): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01071.hp1 others(36): Show |
a0003a0006a0010others(22): Show | a0003c0122a0006c0018a0006c0081others(29): Show | a0003c0122t0001a0006c0018t0001a0006c0081t0001others(30): Show | a0003c0122t0001g0093 a0006c0018t0001g0057 a0006c0018t0001g0077 others(36): Show |
39 | 252 | 0.1548 | -55 | c.788 others(74): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 47/78 | chr5 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157369760 | TATTATTA others(48): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0140 | 1 | 372 | 0.0027 | -55 | c.346 others(72): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132417162 | GCGGAGGG others(48): Show |
G | upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 318 | 0.0031 | -55 | c.-61 others(64): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 339 | chr3 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229554854 | GGAAAAGA others(48): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 176 | 0.0057 | -55 | c.848 others(72): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 141429 | TTGGTGAG others(48): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0209 | 1 | 339 | 0.0030 | -55 | c.*59 others(66): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 1359 | chr17 | TogoVar | |||||||
DOK7_chr4_3458306_3499482 | 3490891 | AATTTCTT others(48): Show |
A | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 404 | 0.0025 | -55 | c.772 others(72): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89613903 | GGCTTCCT others(48): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(98): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0035 others(98): Show |
101 | 250 | 0.4040 | -55 | c.-10 others(72): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPH1_chr17_2025153_2048898 | 2034212 | GGTGGGGG others(48): Show |
G | intron_variant | MODIFIER | NA19005.hp1 | a0017 | a0017c0010 | a0017c0010t0001 | a0017c0010t0001g0131 | 1 | 392 | 0.0026 | -55 | c.278 others(70): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DPH1_chr17_2025153_2048898 | 2047853 | TGATTACA others(48): Show |
T | downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 392 | 0.0026 | -55 | c.*52 others(66): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 3956 | chr17 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137551676 | CGAGCCCC others(48): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0208 |
4 | 340 | 0.0118 | -55 | c.*35 others(66): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 2767 | chr9 | TogoVar | |||||||
DPYSL4_chr10_132181948_132210759 | 132190862 | CGTTCCCA others(48): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0205 | 1 | 418 | 0.0024 | -55 | c.128 others(69): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132191103 | GCTGGCCA others(48): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(270): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(133): Show |
273 | 418 | 0.6531 | -55 | c.128 others(70): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132191267 | GCTGGCCA others(48): Show |
G | intron_variant | MODIFIER | HG03041.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0008a0001c0013t0008 | a0001c0001t0008g0199 a0001c0013t0008g0086 |
2 | 418 | 0.0048 | -55 | c.128 others(70): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132191549 | ATGGTATC others(48): Show |
A | intron_variant | MODIFIER | HG03669.hp2 NA20905.hp2 |
a0001 | a0001c0003a0001c0015 | a0001c0003t0005a0001c0015t0005 | a0001c0003t0005g0062 a0001c0015t0005g0063 |
2 | 418 | 0.0048 | -55 | c.128 others(70): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DUSP4_chr8_29328064_29355684 | 29329197 | TTGTAAGC others(48): Show |
T | downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 392 | 0.0026 | -55 | c.*77 others(66): Show |
DUSP4 | ENSG00000120875.9 | transcript | ENST00000240100.7 | protein_coding | 3866 | chr8 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57171947 | GGGCCGCG others(48): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01109.hp2 others(42): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(35): Show |
45 | 446 | 0.1009 | -55 | c.-45 others(66): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4463 | chr19 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158877167 | CAGGCACC others(48): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 a0001c0001t0002g0197 |
2 | 274 | 0.0073 | -55 | c.573 others(70): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137697973 | CTCCCCAC others(48): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 170 | 0.0059 | -55 | c.22- others(72): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137697984 | TGTGAGGG others(48): Show |
T | intron_variant | MODIFIER | HG01993.hp2 NA20805.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0065 |
2 | 170 | 0.0118 | -55 | c.22- others(72): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137698008 | TGTGGCTC others(48): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0116 | 1 | 170 | 0.0059 | -55 | c.22- others(72): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF4H_chr7_74169356_74202096 | 74194182 | TCGGATAA others(48): Show |
T | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 374 | 0.0027 | -55 | c.470 others(70): Show |
EIF4H | ENSG00000106682.16 | transcript | ENST00000265753.13 | protein_coding | 5/6 | chr7 | TogoVar |