| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CTBP1_chr4_1206445_1254130 | 1237221 | AGTGTCCA others(63): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 422 | 0.0024 | -70 | c.162 others(85): Show |
CTBP1 | ENSG00000159692.18 | transcript | ENST00000382952.8 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
| CTBP1_chr4_1206445_1254130 | 1237541 | CCACCTCC others(63): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0013a0001c0009t0001 | a0001c0001t0001g0032a0001c0001t0001g0182a0001c0001t0001g0246others(3): Show | 7 | 422 | 0.0166 | -70 | c.162 others(85): Show |
CTBP1 | ENSG00000159692.18 | transcript | ENST00000382952.8 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48730406 | CACGGTGT others(63): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG06807.hp1 |
a0001a0002 | a0001c0011a0002c0013 | a0001c0011t0013a0002c0013t0001 | a0001c0011t0013g0086a0002c0013t0001g0016 | 2 | 144 | 0.0139 | -70 | c.584 others(89): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | chr18 | TogoVar | ||||||
| CYLC2_chr9_102990333_103023488 | 103014678 | GTATACAT others(63): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0086 | 1 | 448 | 0.0022 | -70 | c.*81 others(89): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DACH1_chr13_71432966_71872204 | 71735495 | CACGTATA others(63): Show |
C | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 102 | 0.0098 | -70 | c.849 others(89): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
| DAO_chr12_108875092_108906043 | 108880592 | TTTTATAG others(63): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308a0001c0001t0001g0309a0001c0001t0001g0310others(1): Show | 4 | 388 | 0.0103 | -70 | c.-10 others(85): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| DAPL1_chr2_158790317_158820990 | 158791925 | TTCTCTCT others(63): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0072 | 1 | 360 | 0.0028 | -70 | c.-34 others(81): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 3391 | chr2 | TogoVar | ||||||
| DCDC2C_chr2_3698575_3853008 | 3786348 | CGTGTGTC others(63): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01516.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0040a0001c0001t0001g0078a0001c0001t0004g0294others(20): Show | 23 | 324 | 0.0710 | -70 | c.106 others(89): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DDA1_chr19_17304563_17328298 | 17315127 | ATACACAC others(63): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054a0001c0001t0004g0055a0001c0001t0004g0170others(17): Show | 22 | 388 | 0.0567 | -70 | c.136 others(85): Show |
DDA1 | ENSG00000130311.11 | transcript | ENST00000359866.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DDA1_chr19_17304563_17328298 | 17315130 | CACACATA others(63): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01891.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0025others(1): Show | a0001c0001t0007g0012a0001c0001t0007g0047a0001c0001t0007g0179others(13): Show | 21 | 388 | 0.0541 | -70 | c.136 others(85): Show |
DDA1 | ENSG00000130311.11 | transcript | ENST00000359866.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DDX51_chr12_132131594_132149319 | 132134708 | GCTCCTCC others(63): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | -70 | c.*44 others(81): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1885 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132134897 | CCCGAGTG others(63): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 HG03471.hp1 |
a0002a0004 | a0002c0002a0004c0012 | a0002c0002t0004a0004c0012t0013 | a0002c0002t0004g0004a0004c0012t0013g0018 | 2 | 334 | 0.0060 | -70 | c.*43 others(81): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1696 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132135520 | CGCTCCTC others(63): Show |
C | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 334 | 0.0030 | -70 | c.*36 others(81): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1073 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132136142 | ACGGTGCC others(63): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01361.hp2 HG03239.hp1 others(3): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0012 | a0001c0001t0001g0001a0008c0010t0012g0015 | 6 | 334 | 0.0180 | -70 | c.*30 others(81): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 451 | chr12 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 647806 | AGTGCTGG others(63): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG02451.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0121a0001c0001t0001g0275others(17): Show | 20 | 345 | 0.0580 | -70 | c.159 others(89): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
| DECR1_chr8_89996477_90058633 | 90053978 | ATTTTAAA others(63): Show |
A | downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 378 | 0.0027 | -70 | c.*20 others(81): Show |
DECR1 | ENSG00000104325.7 | transcript | ENST00000220764.7 | protein_coding | 346 | chr8 | TogoVar | ||||||
| DEPDC1B_chr5_60591912_60705166 | 60668113 | ATATATAT others(63): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166a0001c0001t0001g0167a0001c0001t0001g0172 | 3 | 292 | 0.0103 | -70 | c.314 others(89): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
| DIDO1_chr20_62872743_62931505 | 62924235 | ACTCTGTT others(63): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0268 | 1 | 320 | 0.0031 | -70 | c.-20 others(89): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 341404 | GGAACGCA others(63): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034 | 2 | 88 | 0.0227 | -70 | c.345 others(86): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 28/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 418102 | CGTCCACC others(63): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0063 | 1 | 88 | 0.0114 | -70 | c.739 others(85): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 458579 | GGCAAGGA others(63): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -70 | c.268 others(89): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 532528 | TGAGAGAG others(63): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG01952.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0005g0024others(10): Show | 13 | 88 | 0.1477 | -70 | c.86- others(87): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 532616 | AGAGAGAG others(63): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01515.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(4): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0079others(9): Show | 12 | 88 | 0.1364 | -70 | c.86- others(87): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIPK2A_chr3_143966823_143997368 | 143978612 | ATATCTAT others(63): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0241a0001c0001t0005g0242 | 2 | 408 | 0.0049 | -70 | c.657 others(87): Show |
DIPK2A | ENSG00000181744.9 | transcript | ENST00000315691.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DLG2_chr11_83450173_85632344 | 85416159 | TTTGTCAA others(63): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 14 | 0.0714 | -70 | c.41- others(89): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4324710 | CAACATAC others(63): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0018others(48): Show | 51 | 80 | 0.6375 | -70 | c.-26 others(93): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1315758 | AGCAGCTT others(63): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | -70 | c.106 others(89): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1316913 | GTCTCTCC others(63): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01361.hp2 HG02698.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0011a0002c0001others(1): Show | a0001c0002t0023a0001c0011t0015a0002c0001t0011others(1): Show | a0001c0002t0023g0005a0001c0011t0015g0002a0002c0001t0011g0001others(1): Show | 4 | 40 | 0.1000 | -70 | c.106 others(89): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1317316 | GCTGTGCG others(63): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG03492.hp1 |
a0001a0002 | a0001c0003a0001c0010a0002c0001 | a0001c0003t0014a0001c0010t0025a0002c0001t0007 | a0001c0003t0014g0020a0001c0010t0025g0012a0002c0001t0007g0038 | 3 | 40 | 0.0750 | -70 | c.106 others(89): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1317386 | CCTGTGCG others(63): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | -70 | c.106 others(89): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1317721 | CTTTTAAA others(63): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG01496.hp2 |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0001a0003c0005t0004 | a0002c0001t0001g0018a0003c0005t0004g0037 | 2 | 40 | 0.0500 | -70 | c.106 others(89): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1318022 | TGAGTGCA others(63): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01361.hp2 HG03516.hp1 |
a0001a0002 | a0001c0002a0001c0011a0002c0001 | a0001c0002t0023a0001c0011t0015a0002c0001t0011 | a0001c0002t0023g0005a0001c0011t0015g0002a0002c0001t0011g0001 | 3 | 40 | 0.0750 | -70 | c.106 others(89): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1318071 | TGTTTAAA others(63): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01496.hp2 HG02895.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0005 | a0001c0003t0001a0001c0003t0013a0002c0001t0001others(1): Show | a0001c0003t0001g0026a0001c0003t0001g0027a0001c0003t0013g0007others(2): Show | 5 | 40 | 0.1250 | -70 | c.106 others(89): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 31421892 | TATATATA others(63): Show |
T | intron_variant | MODIFIER | HG02293.hp1 HG02451.hp2 HG02723.hp1 others(1): Show |
a0002a0003a0005others(1): Show | a0002c0024a0003c0008a0005c0023others(1): Show | a0002c0024t0011a0003c0008t0012a0005c0023t0020others(1): Show | a0002c0024t0011g0016a0003c0008t0012g0117a0005c0023t0020g0110others(1): Show | 4 | 126 | 0.0318 | -70 | c.908 others(91): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
| DNAH9_chr17_11593470_11974748 | 11711902 | ATATTTGT others(63): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02257.hp2 |
a0005a0028 | a0005c0055a0028c0038 | a0005c0055t0001a0028c0038t0001 | a0005c0055t0001g0102a0028c0038t0001g0072 | 2 | 178 | 0.0112 | -70 | c.555 others(89): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DOCK3_chr3_50669927_51389198 | 51016736 | ATTATATA others(63): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0091 | 1 | 212 | 0.0047 | -70 | c.316 others(89): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 403924 | ATATATGT others(63): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG03710.hp1 |
a0009a0048 | a0009c0015a0048c0151 | a0009c0015t0003a0048c0151t0003 | a0009c0015t0003g0118a0048c0151t0003g0174 | 2 | 256 | 0.0078 | -70 | c.323 others(87): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPH1_chr17_2025153_2048898 | 2045971 | GGCGTGGT others(63): Show |
G | downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 392 | 0.0026 | -70 | c.*33 others(81): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 2074 | chr17 | TogoVar | ||||||
| DPP9_chr19_4670227_4728842 | 4672032 | TATATATT others(63): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0242 | 1 | 314 | 0.0032 | -70 | c.*44 others(81): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3194 | chr19 | TogoVar | ||||||
| DPP9_chr19_4670227_4728842 | 4672060 | TATATATT others(63): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 NA18944.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0284a0001c0002t0002g0245 | 2 | 314 | 0.0064 | -70 | c.*44 others(81): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3166 | chr19 | TogoVar | ||||||
| DPY19L2_chr12_63553913_63673493 | 63556391 | TATACATA others(63): Show |
T | downstream_gene_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0060 | 1 | 362 | 0.0028 | -70 | c.*40 others(81): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 2521 | chr12 | TogoVar | ||||||
| DPYD_chr1_97072743_97926034 | 97130766 | TTCCTTCC others(63): Show |
T | intron_variant | MODIFIER | HG03225.hp1 NA19030.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0041a0004c0004t0001g0026 | 2 | 52 | 0.0385 | -70 | c.262 others(91): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | ||||||
| DUXA_chr19_57149021_57172485 | 57172024 | CCGCGAGG others(63): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0217a0001c0001t0002g0232 | 2 | 446 | 0.0045 | -70 | c.-46 others(81): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4540 | chr19 | TogoVar | ||||||
| DYNC2I1_chr7_158851558_158951189 | 158891855 | AAGGGAAG others(63): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00733.hp1 others(27): Show |
a0003a0005a0011 | a0003c0003a0003c0009a0003c0027others(2): Show | a0003c0003t0004a0003c0003t0007a0003c0009t0011others(3): Show | a0003c0003t0004g0238a0003c0003t0004g0239a0003c0003t0004g0242others(27): Show | 30 | 274 | 0.1095 | -70 | c.105 others(87): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DYNLT2B_chr3_196286219_196323240 | 196317300 | TAAAGTTA others(63): Show |
T | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 330 | 0.0030 | -70 | c.113 others(85): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107591899 | AATATATA others(63): Show |
A | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 190 | 0.0053 | -70 | c.125 others(89): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107591924 | ATAATATA others(63): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0030 | 1 | 190 | 0.0053 | -70 | c.125 others(89): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EHD2_chr19_47708422_47748134 | 47718648 | GGGGCCTG others(63): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0027 | 1 | 398 | 0.0025 | -70 | c.502 others(84): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EHMT1_chr9_137614005_137841127 | 137719963 | CCCTCCAC others(63): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0159 | 1 | 170 | 0.0059 | -70 | c.642 others(87): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EIF3I_chr1_32217407_32236604 | 32236398 | ACATCTCA others(63): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 384 | 0.0026 | -70 | c.*52 others(81): Show |
EIF3I | ENSG00000084623.12 | transcript | ENST00000677711.2 | protein_coding | 4795 | chr1 | TogoVar |