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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC2H1_chr11_103104426_103484863 | 103366346 | CTATTA | C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG03195.hp1 |
a0002a0035 | a0002c0027a0035c0060 | a0002c0027t0001a0035c0060t0001 | a0002c0027t0001g0222a0002c0027t0001g0223a0035c0060t0001g0224 | 3 | 262 | 0.0115 | -5 | c.121 others(26): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 83/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103371927 | GTTTTT | G | intron_variant | MODIFIER | HG02886.hp2 HG02976.hp2 NA19003.hp1 others(2): Show |
a0001a0002a0010 | a0001c0005a0001c0006a0002c0003others(1): Show | a0001c0005t0001a0001c0006t0001a0002c0003t0001others(1): Show | a0001c0005t0001g0011a0001c0006t0001g0057a0001c0006t0001g0063others(2): Show | 5 | 262 | 0.0191 | -5 | c.121 others(28): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 83/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103381433 | ATTTAT | A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(11): Show |
a0001a0002a0005others(2): Show | a0001c0010a0002c0032a0005c0011others(2): Show | a0001c0010t0001a0002c0032t0001a0005c0011t0001others(2): Show | a0001c0010t0001g0181a0001c0010t0001g0182a0002c0032t0001g0032others(11): Show | 14 | 262 | 0.0534 | -5 | c.121 others(28): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 83/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103457561 | AAACTT | A | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01109.hp1 others(72): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0008a0001c0010others(21): Show | a0001c0005t0001a0001c0008t0001a0001c0010t0001others(22): Show | a0001c0005t0001g0135a0001c0005t0001g0136a0001c0005t0001g0137others(72): Show | 75 | 262 | 0.2863 | -5 | c.126 others(26): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 87/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103464346 | GGTTAT | G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(51): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(19): Show | a0001c0001t0001g0101a0001c0001t0001g0122a0001c0001t0001g0123others(51): Show | 54 | 262 | 0.2061 | -5 | c.126 others(26): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 87/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103467509 | CTGTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp2 others(59): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0006others(22): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(23): Show | a0001c0001t0001g0105a0001c0001t0001g0114a0001c0001t0001g0125others(59): Show | 62 | 262 | 0.2366 | -5 | c.126 others(26): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 87/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158889835 | TCTCTA | T | intron_variant | MODIFIER | HG01257.hp2 HG02258.hp1 HG02615.hp2 others(1): Show |
a0008a0009 | a0008c0008a0009c0007 | a0008c0008t0003a0008c0008t0020a0009c0007t0003 | a0008c0008t0003g0226a0008c0008t0020g0228a0009c0007t0003g0227others(1): Show | 4 | 274 | 0.0146 | -5 | c.991 others(22): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I2_chr9_128628653_128661847 | 128652447 | AAAAAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0007a0001c0014 | a0001c0007t0001a0001c0014t0001 | a0001c0007t0001g0067a0001c0007t0001g0068a0001c0007t0001g0070others(3): Show | 6 | 368 | 0.0163 | -5 | c.186 others(22): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
DYNC2LI1_chr2_43769039_43815010 | 43790794 | TTTCTC | T | intron_variant | MODIFIER | HG01884.hp1 HG02970.hp2 HG02976.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0032a0004c0004t0002g0033a0004c0004t0002g0034others(3): Show | 6 | 294 | 0.0204 | -5 | c.320 others(22): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYNC2LI1_chr2_43769039_43815010 | 43813708 | CGTTTT | C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG02132.hp2 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0003a0002c0002t0004g0014a0002c0002t0004g0108others(10): Show | 16 | 294 | 0.0544 | -5 | c.*39 others(16): Show |
DYNC2LI1 | ENSG00000138036.18 | transcript | ENST00000260605.12 | protein_coding | 3699 | chr2 | TogoVar | ||||||
DYNLRB1_chr20_34511422_34545958 | 34545129 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG01515.hp2 HG03017.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0077 | 3 | 384 | 0.0078 | -5 | c.*45 others(16): Show |
DYNLRB1 | ENSG00000125971.18 | transcript | ENST00000357156.7 | protein_coding | 4172 | chr20 | TogoVar | ||||||
DYNLRB2_chr16_80535993_80555811 | 80555168 | AAAGAC | A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01070.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0012a0001c0001t0002g0014others(5): Show | 28 | 416 | 0.0673 | -5 | c.*46 others(16): Show |
DYNLRB2 | ENSG00000168589.15 | transcript | ENST00000305904.11 | protein_coding | 4358 | chr16 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158641562 | ATTGTT | A | intron_variant | MODIFIER | HG02056.hp2 NA18999.hp2 NA19055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0011a0001c0001t0004g0028 | 6 | 396 | 0.0152 | -5 | c.28- others(18): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196288859 | TTTTTA | T | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02970.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0022a0001c0001t0001g0093others(1): Show | 4 | 330 | 0.0121 | -5 | c.*24 others(16): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 2359 | chr3 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196310107 | AACTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(72): Show | 100 | 330 | 0.3030 | -5 | c.248 others(22): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
DYNLT2_chr6_169735109_169756572 | 169747721 | CTACTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0043 | 6 | 419 | 0.0143 | -5 | c.121 others(22): Show |
DYNLT2 | ENSG00000184786.6 | transcript | ENST00000366774.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
DYNLT3_chrX_37833836_37852571 | 37834545 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG02040.hp1 HG02132.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0010a0001c0002t0001g0008a0001c0002t0002g0034others(1): Show | 5 | 324 | 0.0154 | -5 | c.*60 others(16): Show |
DYNLT3 | ENSG00000165169.11 | transcript | ENST00000378578.9 | protein_coding | 4290 | chrX | TogoVar | ||||||
DYNLT5_chr1_66747459_66784047 | 66758399 | AGGCTT | A | intron_variant | MODIFIER | HG01192.hp2 HG01934.hp1 HG02145.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0006others(1): Show | a0001c0001t0001g0055a0001c0001t0002g0162a0002c0002t0006g0018others(3): Show | 9 | 402 | 0.0224 | -5 | c.119 others(22): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37375519 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0016a0001c0001t0026others(8): Show | a0001c0001t0002g0181a0001c0001t0016g0020a0001c0001t0016g0025others(11): Show | 14 | 350 | 0.0400 | -5 | c.-77 others(22): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37382497 | CTACTT | C | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0169a0001c0001t0170others(1): Show | a0001c0001t0045g0318a0001c0001t0045g0320a0001c0001t0169g0319others(2): Show | 5 | 350 | 0.0143 | -5 | c.-77 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37403634 | TAAAAA | T | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG02056.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0019a0001c0001t0021others(3): Show | a0001c0001t0002g0126a0001c0001t0002g0212a0001c0001t0002g0218others(10): Show | 13 | 350 | 0.0371 | -5 | c.-76 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37467117 | AAAAAC | A | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0001t0026a0001c0001t0043others(9): Show | a0001c0001t0016g0020a0001c0001t0016g0025a0001c0001t0016g0026others(13): Show | 16 | 350 | 0.0457 | -5 | c.11- others(20): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37473152 | TGAAGA | T | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0169a0001c0001t0170others(1): Show | a0001c0001t0045g0318a0001c0001t0045g0320a0001c0001t0169g0319others(2): Show | 5 | 350 | 0.0143 | -5 | c.207 others(20): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 3/11 | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37476754 | TAAATC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(84): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0014a0001c0001t0024others(38): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(84): Show | 87 | 350 | 0.2486 | -5 | c.208 others(22): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37492561 | AATTAT | A | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0155 | a0001c0001t0023g0013a0001c0001t0023g0015a0001c0001t0023g0016others(1): Show | 4 | 350 | 0.0114 | -5 | c.925 others(20): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37517271 | GGACAA | G | 3_prime_UTR_variant | MODIFIER | HG03139.hp1 HG03209.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0062a0001c0001t0088 | a0001c0001t0061g0022a0001c0001t0062g0024a0001c0001t0088g0023 | 3 | 350 | 0.0086 | -5 | c.*47 others(16): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 12/12 | 4747 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
DYRK3_chr1_206630536_206660158 | 206649063 | TTAGAG | T | 3_prime_UTR_variant | MODIFIER | HG01256.hp2 HG01928.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023a0001c0001t0007g0113a0001c0001t0007g0115others(1): Show | 6 | 396 | 0.0152 | -5 | c.*10 others(14): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 3/3 | 103 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
DYRK4_chr12_4557208_4618875 | 4605729 | GTTTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(65): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0009others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(6): Show | a0001c0001t0001g0087a0001c0003t0001g0009a0001c0003t0001g0010others(60): Show | 68 | 414 | 0.1643 | -5 | c.129 others(22): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71484805 | ACCAGG | A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp2 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(17): Show | a0001c0001t0001g0037a0001c0001t0001g0110a0001c0002t0001g0133others(29): Show | 32 | 192 | 0.1667 | -5 | c.236 others(22): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 3/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71625127 | ATAGAT | A | intron_variant | MODIFIER | HG02717.hp2 HG02976.hp1 HG03225.hp2 others(1): Show |
a0001a0003 | a0001c0009a0003c0062a0003c0084 | a0001c0009t0001a0001c0009t0002a0003c0062t0001others(1): Show | a0001c0009t0001g0053a0001c0009t0002g0025a0003c0062t0001g0102others(1): Show | 4 | 192 | 0.0208 | -5 | c.441 others(26): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71628982 | GTTTAA | G | intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0037a0001c0003t0001g0105 | 2 | 192 | 0.0104 | -5 | c.441 others(26): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71635765 | AGAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01071.hp2 others(8): Show |
a0001a0024a0025 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0069others(8): Show | 11 | 192 | 0.0573 | -5 | c.441 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71484045 | CTTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp2 HG02809.hp1 others(2): Show |
a0001a0023 | a0001c0006a0001c0009a0001c0053others(2): Show | a0001c0006t0003a0001c0009t0008a0001c0053t0001others(2): Show | a0001c0006t0003g0204a0001c0009t0008g0196a0001c0053t0001g0206others(2): Show | 5 | 208 | 0.0240 | -5 | c.239 others(22): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71484805 | ACCAGG | A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(31): Show | 34 | 208 | 0.1635 | -5 | c.239 others(22): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71537223 | GTTTTT | G | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG03098.hp2 others(2): Show |
a0001a0019 | a0001c0016a0001c0047a0001c0050others(1): Show | a0001c0016t0001a0001c0047t0003a0001c0050t0001others(1): Show | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(2): Show | 5 | 208 | 0.0240 | -5 | c.149 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71625127 | ATAGAT | A | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
a0001a0003 | a0001c0012a0001c0084a0003c0065others(1): Show | a0001c0012t0001a0001c0084t0001a0003c0065t0001others(1): Show | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | 208 | 0.0240 | -5 | c.452 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71628982 | GTTTAA | G | intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0078a0001c0003t0001g0055 | 2 | 208 | 0.0096 | -5 | c.452 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71635765 | AGAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01071.hp2 others(8): Show |
a0001a0026a0028 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(8): Show | 11 | 208 | 0.0529 | -5 | c.452 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206656700 | AACTTC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(29): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0005others(4): Show | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(5): Show | a0002c0002t0001g0032a0002c0002t0001g0047a0002c0002t0001g0055others(29): Show | 32 | 382 | 0.0838 | -5 | c.163 others(24): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206659995 | AAAGAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
a0002a0003a0004others(6): Show | a0002c0002a0003c0003a0004c0005others(6): Show | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(7): Show | a0002c0002t0001g0007a0002c0002t0001g0018a0002c0002t0001g0027others(94): Show | 99 | 382 | 0.2592 | -5 | c.163 others(24): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18415564 | TTTTTG | T | intron_variant | MODIFIER | HG02818.hp2 HG04228.hp1 NA18947.hp1 others(6): Show |
a0006a0010a0018 | a0006c0009a0010c0029a0018c0030 | a0006c0009t0001a0006c0009t0005a0010c0029t0005others(1): Show | a0006c0009t0001g0146a0006c0009t0005g0012a0006c0009t0005g0145others(5): Show | 9 | 374 | 0.0241 | -5 | c.101 others(22): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 10/20 | chr20 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95607042 | TTTTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(79): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0014 | a0001c0001t0002a0002c0002t0002a0002c0002t0003others(8): Show | a0001c0001t0002g0217a0002c0002t0002g0002a0002c0002t0002g0023others(78): Show | 82 | 382 | 0.2147 | -5 | c.142 others(22): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 13/22 | chr13 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95645975 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01433.hp2 others(25): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0155a0001c0001t0001g0161a0001c0001t0002g0166others(25): Show | 28 | 382 | 0.0733 | -5 | c.-21 others(16): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 1270 | chr13 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108588491 | TTAATA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(111): Show |
a0001a0005a0008others(1): Show | a0001c0001a0005c0010a0008c0011others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(107): Show | 114 | 318 | 0.3585 | -5 | c.-14 others(16): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 1230 | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108652042 | AGTTTT | A | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01081.hp2 others(39): Show |
a0001a0007 | a0001c0002a0001c0013a0001c0015others(1): Show | a0001c0002t0001a0001c0002t0011a0001c0013t0001others(2): Show | a0001c0002t0001g0004a0001c0002t0001g0222a0001c0002t0001g0228others(39): Show | 42 | 318 | 0.1321 | -5 | c.203 others(22): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 18/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108697394 | GTAAAA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01074.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223a0001c0002t0001g0224a0001c0002t0001g0225others(8): Show | 11 | 318 | 0.0346 | -5 | c.*40 others(16): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 2555 | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108699360 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01074.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223a0001c0002t0001g0224a0001c0002t0001g0226others(10): Show | 13 | 318 | 0.0409 | -5 | c.*60 others(16): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 4521 | chr3 | TogoVar | ||||||
E2F3_chr6_20396879_20498714 | 20462859 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01258.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0032a0001c0001t0001g0080a0001c0001t0001g0089others(20): Show | 25 | 336 | 0.0744 | -5 | c.394 others(24): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F6_chr2_11439375_11471161 | 11448365 | TAAGGA | T | intron_variant | MODIFIER | HG01261.hp2 HG02622.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0080a0001c0001t0001g0083others(2): Show | 8 | 366 | 0.0219 | -5 | c.652 others(20): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 5/6 | chr2 | TogoVar | ||||||
E2F6_chr2_11439375_11471161 | 11468536 | ATACTT | A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086a0001c0001t0003g0087a0001c0001t0003g0088 | 3 | 366 | 0.0082 | -5 | c.-26 others(16): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 2376 | chr2 | TogoVar |