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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2B_chr12_50499985_50753657 | 50664830 | GTTTTTGT others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(31): Show | a0001c0001t0001g0027 a0001c0001t0001g0114 a0001c0001t0001g0115 others(116): Show |
119 | 126 | 0.9444 | -19 | c.427 others(36): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 301958 | GGTTTTCA others(12): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(21): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(6): Show | a0001c0003t0002a0001c0005t0002a0001c0006t0001others(8): Show | a0001c0003t0002g0021 a0001c0003t0002g0041 a0001c0003t0002g0049 others(21): Show |
24 | 88 | 0.2727 | -19 | c.398 others(38): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 32/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477595 | AGGGAGGA others(12): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 32 | 0.0313 | -19 | c.158 others(36): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 678846 | GCACCCAT others(12): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -19 | c.85+ others(36): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 678988 | CCCATCTC others(12): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -19 | c.85+ others(36): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92943330 | CTGGAAGC others(12): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02818.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0002t0002a0001c0007t0002 | a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0087 others(8): Show |
11 | 198 | 0.0556 | -19 | c.54+ others(36): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
DIRAS3_chr1_68040962_68055627 | 68048032 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 | 1 | 373 | 0.0027 | -19 | c.-65 others(34): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
DIRAS3_chr1_68040962_68055627 | 68048040 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0036 | 1 | 374 | 0.0027 | -19 | c.-65 others(34): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
DIS3L2_chr2_231956713_232342192 | 232337214 | CCTGACGA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01074.hp1 others(29): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0009t0002others(6): Show | a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0204 others(29): Show |
32 | 302 | 0.1060 | -19 | c.*58 others(28): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 23 | chr2 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231733353 | GGAGTGGT others(12): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02647.hp1 HG02922.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0005t0002a0001c0005t0003others(6): Show | a0001c0001t0001g0032 a0001c0005t0002g0016 a0001c0005t0003g0029 others(6): Show |
9 | 38 | 0.2368 | -19 | c.111 others(40): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231912740 | CTCTTCTT others(12): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0001 a0001c0001t0010g0024 |
2 | 26 | 0.0769 | -19 | c.198 others(40): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIXDC1_chr11_111932343_112027653 | 111950434 | ATATATTT others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0126 | 1 | 266 | 0.0038 | -19 | c.60+ others(36): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DKK3_chr11_11958036_12013626 | 12010751 | AAAGAAAG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 414 | 0.0072 | -19 | c.-21 others(30): Show |
DKK3 | ENSG00000050165.19 | transcript | ENST00000683431.1 | protein_coding | 2126 | chr11 | TogoVar | |||||||
DKKL1_chr19_49358877_49380116 | 49361033 | GGGGGGAC others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01891.hp1 HG02055.hp1 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006 a0004c0004t0001g0117 a0004c0004t0001g0118 others(4): Show |
19 | 394 | 0.0482 | -19 | c.-29 others(30): Show |
DKKL1 | ENSG00000104901.7 | transcript | ENST00000221498.7 | protein_coding | 2843 | chr19 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112055848 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02738.hp2 HG03130.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0007 | a0001c0001t0001g0160 a0003c0003t0007g0052 |
2 | 60 | 0.0333 | -19 | c.151 others(38): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38087277 | CACACCAT others(12): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0226 | 1 | 298 | 0.0034 | -19 | c.157 others(36): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38087336 | CACACCAT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(75): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0014a0001c0016others(14): Show | a0001c0002t0001a0001c0014t0005a0001c0016t0003others(16): Show | a0001c0002t0001g0006 a0001c0002t0001g0177 a0001c0002t0001g0181 others(72): Show |
78 | 298 | 0.2617 | -19 | c.157 others(36): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197060902 | TGCAACTT others(12): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 a0001c0001t0004g0114 |
2 | 330 | 0.0061 | -19 | c.237 others(36): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 22/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127442 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 327 | 0.0031 | -19 | c.116 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127446 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 327 | 0.0031 | -19 | c.116 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127448 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 326 | 0.0031 | -19 | c.116 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127452 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 327 | 0.0031 | -19 | c.116 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197260750 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0221 | 1 | 96 | 0.0104 | -19 | c.318 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197301279 | TAAAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01952.hp2 HG02004.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0102 a0001c0001t0003g0033 a0001c0001t0003g0230 others(9): Show |
12 | 16 | 0.7500 | -19 | c.-27 others(30): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 2668 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197302157 | TATCTATC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01099.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0110 a0001c0001t0002g0190 a0001c0001t0002g0191 others(12): Show |
15 | 330 | 0.0455 | -19 | c.-36 others(30): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 3546 | chr3 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84121541 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02717.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0006 a0001c0001t0004g0005 a0001c0001t0010g0014 |
3 | 10 | 0.3000 | -19 | c.625 others(38): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 9/27 | chr11 | TogoVar | |||||||
DLG4_chr17_7182187_7222627 | 7205695 | ATCCCCCA others(12): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG02717.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0060a0001c0001t0077a0001c0001t0096others(1): Show | a0001c0001t0060g0303 a0001c0001t0077g0307 a0001c0001t0096g0306 others(1): Show |
4 | 356 | 0.0112 | -19 | c.97- others(34): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2/19 | chr17 | TogoVar | |||||||
DLG4_chr17_7182187_7222627 | 7205726 | ACAGCCCG others(12): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01361.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(21): Show | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0006g0054 others(25): Show |
28 | 356 | 0.0787 | -19 | c.97- others(34): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2/19 | chr17 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3782016 | CTATTCCA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0018 others(51): Show |
54 | 80 | 0.6750 | -19 | c.117 others(40): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3848127 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0028 | 1 | 16 | 0.0625 | -19 | c.957 others(38): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4384960 | TCTTCTTT others(12): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02451.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(10): Show | a0001c0001t0003g0068 a0001c0001t0004g0016 a0001c0001t0012g0054 others(10): Show |
13 | 80 | 0.1625 | -19 | c.-26 others(40): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1050958 | TGGGGTCA others(12): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 40 | 0.0250 | -19 | c.73+ others(38): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1109065 | TGGGTCTG others(12): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | -19 | c.74- others(38): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1109848 | AGGTCTGT others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | -19 | c.74- others(38): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1275865 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | -19 | c.106 others(38): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1647488 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0034 | 1 | 5 | 0.2000 | -19 | c.181 others(40): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLST_chr14_74876916_74908743 | 74879450 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02015.hp1 NA18970.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 a0001c0002t0002g0101 a0001c0002t0002g0104 |
3 | 98 | 0.0306 | -19 | c.-25 others(30): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 2465 | chr14 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122561334 | GATTCCAA others(12): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0019 | a0019c0064 | a0019c0064t0003 | a0019c0064t0003g0038 | 1 | 280 | 0.0036 | -19 | c.61+ others(32): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122561346 | GTCTTGGA others(12): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0035 | a0035c0044 | a0035c0044t0001 | a0035c0044t0001g0087 | 1 | 280 | 0.0036 | -19 | c.61+ others(32): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634410 | TTTCTCTC others(12): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03540.hp1 |
a0003a0039 | a0003c0003a0039c0033 | a0003c0003t0001a0039c0033t0001 | a0003c0003t0001g0192 a0039c0033t0001g0106 |
2 | 280 | 0.0071 | -19 | c.654 others(38): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBX1_chr1_46484836_46521216 | 46501923 | AGTATATA others(12): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0062 | 1 | 428 | 0.0023 | -19 | c.-12 others(36): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01192.hp1 others(19): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(19): Show | a0001c0001t0001g0004 a0001c0001t0002g0019 a0001c0002t0001g0021 others(19): Show |
22 | 24 | 0.9167 | -19 | c.980 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31648617 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG01515.hp1 others(22): Show |
a0001a0002a0003others(11): Show | a0001c0002a0002c0013a0002c0016others(13): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(16): Show | a0001c0002t0001g0047 a0001c0002t0001g0068 a0001c0002t0001g0085 others(22): Show |
25 | 37 | 0.6757 | -19 | c.802 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32279987 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG01943.hp1 HG02056.hp1 others(15): Show |
a0001a0002a0003others(7): Show | a0001c0002a0002c0005a0002c0009others(12): Show | a0001c0002t0001a0002c0005t0001a0002c0009t0001others(13): Show | a0001c0002t0001g0021 a0001c0002t0001g0085 a0002c0005t0001g0017 others(15): Show |
18 | 126 | 0.1429 | -19 | c.629 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32280146 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01069.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0059 a0001c0001t0003g0035 a0001c0001t0006g0097 others(16): Show |
19 | 125 | 0.1520 | -19 | c.629 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33026313 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01255.hp1 others(16): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(14): Show | a0001c0001t0001g0012 a0001c0001t0001g0082 a0001c0001t0006g0097 others(16): Show |
19 | 38 | 0.5000 | -19 | c.32- others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33040277 | TAAGGAAA others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01192.hp1 HG01243.hp1 others(1): Show |
a0001a0004a0025 | a0001c0001a0004c0054a0025c0026 | a0001c0001t0002a0001c0001t0003a0004c0054t0001others(1): Show | a0001c0001t0002g0019 a0001c0001t0003g0035 a0004c0054t0001g0003 others(1): Show |
4 | 126 | 0.0317 | -19 | c.32- others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79050262 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 362 | 0.0028 | -19 | c.745 others(36): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79050264 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0223 others(1): Show |
4 | 356 | 0.0112 | -19 | c.745 others(36): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | |||||||
DMRTC2_chr19_41840042_41857333 | 41843059 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0039 |
2 | 400 | 0.0050 | -19 | c.-20 others(30): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1982 | chr19 | TogoVar |