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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DUSP14_chr17_37484891_37518498 | 37511759 | AAAAAAAT | A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0211 a0001c0001t0001g0327 a0001c0001t0002g0086 others(3): Show |
6 | 420 | 0.0143 | -7 | c.-92 others(22): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP16_chr12_12468282_12567863 | 12548194 | TGGGCAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(64): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(13): Show | a0001c0001t0001g0184 a0001c0001t0003g0028 a0001c0001t0003g0036 others(64): Show |
67 | 350 | 0.1914 | -7 | c.-36 others(28): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
DUSP19_chr2_183073747_183105008 | 183085847 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0052 a0001c0001t0002g0002 a0001c0001t0002g0025 others(27): Show |
55 | 64 | 0.8594 | -7 | c.274 others(24): Show |
DUSP19 | ENSG00000162999.13 | transcript | ENST00000354221.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DUSP22_chr6_287487_356355 | 301251 | CCCAAGGG | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0024 others(40): Show |
46 | 220 | 0.2091 | -7 | c.22- others(22): Show |
DUSP22 | ENSG00000112679.15 | transcript | ENST00000419235.7 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
DUSP29_chr10_75032472_75078642 | 75074288 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG02647.hp1 HG03490.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0108 others(3): Show |
6 | 259 | 0.0232 | -7 | c.-76 others(16): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 647 | chr10 | TogoVar | |||||||
DUT_chr15_48326429_48348373 | 48346959 | CTCTCTTT | C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0035 |
6 | 383 | 0.0157 | -7 | c.*48 others(18): Show |
DUT | ENSG00000128951.14 | transcript | ENST00000331200.8 | protein_coding | 3587 | chr15 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57162566 | GTTTTGTT | G | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070 a0001c0001t0001g0195 a0001c0001t0002g0131 others(3): Show |
6 | 444 | 0.0135 | -7 | c.26- others(22): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXB_chr16_75688893_75706461 | 75699649 | CCCGGGTT | C | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp1 HG01258.hp1 others(12): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(1): Show | a0001c0001t0003a0003c0003t0003a0005c0005t0001others(1): Show | a0001c0001t0003g0063 a0003c0003t0003g0009 a0003c0003t0003g0016 others(4): Show |
15 | 420 | 0.0357 | -7 | c.180 others(22): Show |
DUXB | ENSG00000282757.4 | transcript | ENST00000633875.4 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
DVL3_chr3_184150377_184178614 | 184153014 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG00741.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0011 others(14): Show |
31 | 119 | 0.2605 | -7 | c.-26 others(18): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 2362 | chr3 | TogoVar | |||||||
DVL3_chr3_184150377_184178614 | 184174585 | GAAAAAAA | G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG01891.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0005a0001c0001t0008a0001c0001t0018others(2): Show | a0001c0001t0005g0010 a0001c0001t0005g0044 a0001c0001t0008g0012 others(4): Show |
15 | 89 | 0.1685 | -7 | c.*38 others(18): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 972 | chr3 | TogoVar | |||||||
DYDC1_chr10_80331105_80361755 | 80347276 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(169): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(95): Show |
172 | 204 | 0.8431 | -7 | c.249 others(24): Show |
DYDC1 | ENSG00000170788.14 | transcript | ENST00000372202.6 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49081519 | AGGGAGAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp1 others(34): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0012 a0001c0001t0002g0281 a0001c0001t0002g0284 others(34): Show |
37 | 63 | 0.5873 | -7 | c.202 others(28): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49317594 | TCTCCCCC | T | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0147 a0001c0001t0003g0071 a0001c0001t0003g0072 others(9): Show |
12 | 284 | 0.0423 | -7 | c.763 others(26): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49454907 | CAAAAAAA | C | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 others(5): Show |
8 | 80 | 0.1000 | -7 | c.-54 others(24): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYNC1H1_chr14_101959573_102061443 | 102057712 | CAACACCT | C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01361.hp2 others(25): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0007others(6): Show | a0001c0002t0001a0001c0002t0014a0001c0003t0001others(10): Show | a0001c0002t0001g0147 a0001c0002t0014g0084 a0001c0002t0014g0086 others(25): Show |
28 | 146 | 0.1918 | -7 | c.*71 others(18): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 1270 | chr14 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32528112 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01074.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0280 others(20): Show |
25 | 97 | 0.2577 | -7 | c.146 others(24): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 12/12 | chr3 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32537944 | ATATAATT | A | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG01261.hp2 others(5): Show |
a0002a0009 | a0002c0002a0009c0012 | a0002c0002t0001a0009c0012t0001 | a0002c0002t0001g0003 a0002c0002t0001g0071 a0002c0002t0001g0082 others(5): Show |
8 | 334 | 0.0240 | -7 | c.739 others(22): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32537954 | TATATATA | T | intron_variant | MODIFIER | NA18943.hp1 NA18963.hp2 NA18975.hp1 others(6): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0002a0001c0001t0011a0007c0009t0002 | a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0112 others(6): Show |
9 | 334 | 0.0269 | -7 | c.739 others(22): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
DYNC2H1_chr11_103104426_103484863 | 103148809 | AGTACTTT | A | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02896.hp1 others(2): Show |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0003 a0002c0007t0001g0004 a0002c0007t0001g0005 others(2): Show |
5 | 260 | 0.0192 | -7 | c.294 others(24): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 20/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103414057 | ACATAAGT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(155): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0005a0001c0006others(43): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(46): Show | a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0122 others(155): Show |
158 | 260 | 0.6077 | -7 | c.123 others(30): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 84/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158862352 | CATTGATT | C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02647.hp2 others(6): Show |
a0001a0008 | a0001c0001a0001c0021a0001c0022others(1): Show | a0001c0001t0009a0001c0001t0012a0001c0021t0008others(2): Show | a0001c0001t0009g0115 a0001c0001t0009g0227 a0001c0001t0009g0228 others(6): Show |
9 | 272 | 0.0331 | -7 | c.15+ others(22): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNLL2_chr17_58078419_58100542 | 58093856 | ACCTGTTG | A | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01071.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0023others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0008g0002 others(2): Show |
32 | 304 | 0.1053 | -7 | c.*45 others(18): Show |
DYNLL2 | ENSG00000264364.3 | transcript | ENST00000579991.3 | protein_coding | 3/3 | 4585 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DYNLT1_chr6_158631474_158649743 | 158636069 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02027.hp1 HG02071.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0040 others(2): Show |
38 | 222 | 0.1712 | -7 | c.*75 others(16): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37411049 | TAAAAAAA | T | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0024a0001c0001t0045a0001c0001t0169others(3): Show | a0001c0001t0024g0167 a0001c0001t0045g0316 a0001c0001t0169g0317 others(3): Show |
6 | 29 | 0.2069 | -7 | c.-76 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK3_chr1_206630536_206660158 | 206656247 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(101): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0014a0001c0001t0023others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(26): Show |
104 | 244 | 0.4262 | -7 | c.*72 others(18): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 1090 | chr1 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4561454 | TTTTTTTC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01109.hp2 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0004t0001a0001c0005t0001 | a0001c0002t0001g0044 a0001c0004t0001g0034 a0001c0004t0001g0048 others(7): Show |
13 | 412 | 0.0316 | -7 | c.-79 others(16): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 753 | chr12 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4600849 | GCCCCTTC | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(68): Show |
a0001 | a0001c0003a0001c0010a0001c0012others(3): Show | a0001c0003t0001a0001c0010t0001a0001c0012t0001others(3): Show | a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 others(63): Show |
71 | 412 | 0.1723 | -7 | c.112 others(26): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206657002 | TCCGCCCA | T | intron_variant | MODIFIER | HG00140.hp1 HG01192.hp2 HG01975.hp1 |
a0001a0013 | a0001c0001a0013c0023 | a0001c0001t0001a0013c0023t0001 | a0001c0001t0001g0104 a0001c0001t0001g0140 a0013c0023t0001g0143 |
3 | 380 | 0.0079 | -7 | c.163 others(26): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | |||||||
DYTN_chr2_206646621_206723396 | 206659162 | CTCTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01070.hp1 others(11): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0005 | a0002c0002t0001a0003c0003t0001a0004c0005t0001 | a0002c0002t0001g0038 a0002c0002t0001g0053 a0002c0002t0001g0090 others(11): Show |
14 | 380 | 0.0368 | -7 | c.163 others(26): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | |||||||
DYTN_chr2_206646621_206723396 | 206659484 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(55): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0001 | a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0013 others(52): Show |
58 | 175 | 0.3314 | -7 | c.163 others(26): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | |||||||
DZIP1_chr13_95573202_95649706 | 95606372 | ATACCCAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(126): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0008 a0001c0001t0002g0033 a0001c0001t0002g0053 others(122): Show |
129 | 380 | 0.3395 | -7 | c.142 others(24): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 13/22 | chr13 | TogoVar | |||||||
DZIP1_chr13_95573202_95649706 | 95634430 | TTAGAATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0028 others(256): Show |
266 | 380 | 0.7000 | -7 | c.598 others(24): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 5/22 | chr13 | TogoVar | |||||||
E2F2_chr1_23501438_23536233 | 23511476 | TCCTCCTG | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0011 a0001c0001t0005g0058 a0001c0001t0005g0059 others(11): Show |
17 | 394 | 0.0431 | -7 | c.104 others(26): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
E2F3_chr6_20396879_20498714 | 20462859 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(82): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0042 others(81): Show |
85 | 104 | 0.8173 | -7 | c.394 others(26): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34518325 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0150 a0001c0002t0001g0003 a0001c0002t0001g0027 others(31): Show |
40 | 115 | 0.3478 | -7 | c.582 others(24): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158969897 | AAAGAAAG | A | intron_variant | MODIFIER | HG01074.hp1 HG01433.hp2 HG01891.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0086a0001c0002t0002a0001c0002t0089 | a0001c0001t0086g0154 a0001c0002t0002g0089 a0001c0002t0089g0187 |
3 | 196 | 0.0153 | -7 | c.554 others(28): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 159006647 | TAAAAAAA | T | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(19): Show | a0001c0001t0002g0150 a0001c0001t0006g0019 a0001c0001t0007g0066 others(30): Show |
33 | 48 | 0.6875 | -7 | c.554 others(26): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25851581 | TAAGAAAG | T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02572.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0054 a0002c0003t0005g0100 a0002c0003t0005g0101 others(4): Show |
7 | 216 | 0.0324 | -7 | c.152 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 14/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25899855 | ACCACCCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0080 a0001c0001t0001g0120 a0001c0001t0002g0012 others(31): Show |
34 | 218 | 0.1560 | -7 | c.633 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25907419 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG02004.hp1 HG02148.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0014 | a0001c0001t0001g0048 a0001c0001t0001g0115 a0001c0001t0001g0121 others(2): Show |
5 | 28 | 0.1786 | -7 | c.633 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26018496 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00738.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0002g0022 a0001c0001t0002g0131 a0001c0001t0002g0137 others(13): Show |
16 | 50 | 0.3200 | -7 | c.551 others(26): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF4_chr20_2687780_2765108 | 2703256 | TAAAAAAA | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0248 a0001c0001t0001g0311 a0001c0001t0002g0001 others(66): Show |
79 | 199 | 0.3970 | -7 | c.138 others(24): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4232239 | AAAAAAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01255.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 a0002c0002t0002g0016 a0002c0002t0002g0020 others(4): Show |
8 | 434 | 0.0184 | -7 | c.201 others(22): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73060593 | TGAGTCTC | T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00735.hp1 others(156): Show |
a0002a0003a0005 | a0002c0002a0002c0007a0003c0003others(1): Show | a0002c0002t0002a0002c0002t0009a0002c0002t0013others(10): Show | a0002c0002t0002g0000 a0002c0002t0009g0000 a0002c0002t0013g0000 others(10): Show |
159 | 426 | 0.3732 | -7 | c.-14 others(18): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1065 | chr3 | TogoVar | |||||||
EBPL_chr13_49655674_49696486 | 49669999 | ATACAATC | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0266 a0001c0001t0001g0277 |
4 | 408 | 0.0098 | -7 | c.172 others(22): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | |||||||
ECD_chr10_73128668_73173008 | 73142632 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG02965.hp2 HG03225.hp1 others(4): Show |
a0002a0007 | a0002c0002a0002c0003a0007c0010 | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(1): Show | a0002c0002t0002g0049 a0002c0002t0003g0039 a0002c0002t0003g0047 others(4): Show |
7 | 147 | 0.0476 | -7 | c.112 others(26): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 9/13 | chr10 | TogoVar | |||||||
ECD_chr10_73128668_73173008 | 73153725 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(79): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0003a0002c0008others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(5): Show | a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 others(67): Show |
82 | 224 | 0.3661 | -7 | c.783 others(22): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
ECE2_chr3_184271022_184298031 | 184274783 | GAAAGAGA | G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0002 | a0001c0001t0001g0018 a0001c0001t0001g0094 a0001c0001t0001g0095 others(8): Show |
23 | 395 | 0.0582 | -7 | c.-13 others(18): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1238 | chr3 | TogoVar | |||||||
ECE2_chr3_184271022_184298031 | 184274987 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02717.hp2 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0005 a0002c0004t0002g0073 a0002c0004t0002g0077 |
7 | 148 | 0.0473 | -7 | c.-11 others(18): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1034 | chr3 | TogoVar | |||||||
ECE2_chr3_184271022_184298031 | 184296561 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0004a0002c0003t0002a0002c0004t0002 | a0001c0001t0004g0008 a0002c0003t0002g0076 a0002c0004t0002g0005 others(2): Show |
8 | 69 | 0.1159 | -7 | c.*43 others(18): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 3531 | chr3 | TogoVar |