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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP1_chr18_3491032_4460307 | 4027503 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02155.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0018a0001c0003t0021a0001c0004t0014others(2): Show | a0001c0001t0018g0046a0001c0003t0021g0027a0001c0004t0014g0058others(2): Show | 5 | 80 | 0.0625 | -9 | c.-15 others(30): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4305484 | AGATCGTG others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01433.hp2 HG01496.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0047a0001c0001t0003g0059a0001c0001t0003g0068others(28): Show | 31 | 80 | 0.3875 | -9 | c.-26 others(32): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 735329 | GATAATAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01071.hp1 HG01361.hp1 HG01891.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0006a0001c0003t0001a0001c0003t0006others(7): Show | a0001c0002t0006g0011a0001c0003t0001g0025a0001c0003t0001g0027others(8): Show | 11 | 40 | 0.2750 | -9 | c.-24 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2298 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1214010 | CGGCTGTG others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG01891.hp2 others(6): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0001a0001c0002t0027a0001c0003t0001others(6): Show | a0001c0002t0001g0015a0001c0002t0027g0023a0001c0003t0001g0027others(6): Show | 9 | 40 | 0.2250 | -9 | c.74- others(26): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1337192 | AATGATGG others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp1 HG01496.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0009others(8): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(21): Show | a0001c0002t0001g0015a0001c0002t0006g0011a0001c0002t0010g0008others(23): Show | 26 | 40 | 0.6500 | -9 | c.106 others(28): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36317286 | TTCTTTCT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01934.hp1 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0052a0001c0001t0003g0061a0001c0001t0013g0130 | 3 | 144 | 0.0208 | -9 | c.-30 others(30): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36525216 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02109.hp2 HG02809.hp1 others(3): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0008a0001c0005t0026a0001c0010t0002others(1): Show | a0001c0001t0008g0013a0001c0001t0008g0014a0001c0001t0008g0077others(3): Show | 6 | 144 | 0.0417 | -9 | c.260 others(26): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP5_chr14_55143135_55196585 | 55183464 | ATAATGAG others(2): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0105a0001c0003t0001g0151a0001c0003t0001g0152others(1): Show | 4 | 362 | 0.0111 | -9 | c.432 others(22): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 3/18 | chr14 | TogoVar | ||||||
DLL3_chr19_39493947_39513469 | 39506211 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02630.hp2 others(7): Show |
a0002 | a0002c0002a0002c0021 | a0002c0002t0001a0002c0021t0001 | a0002c0002t0001g0029a0002c0002t0001g0030a0002c0002t0001g0142others(4): Show | 10 | 428 | 0.0234 | -9 | c.109 others(26): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DLL4_chr15_40924340_40944073 | 40924800 | GTTATTAT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02074.hp1 HG02145.hp1 HG02257.hp2 others(14): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0026a0001c0001t0002g0005others(7): Show | 17 | 370 | 0.0460 | -9 | c.-48 others(20): Show |
DLL4 | ENSG00000128917.8 | transcript | ENST00000249749.7 | protein_coding | 4539 | chr15 | TogoVar | ||||||
DLX5_chr7_97015396_97029831 | 97019115 | AGAGAGAG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 448 | 0.0067 | -9 | c.*16 others(20): Show |
DLX5 | ENSG00000105880.7 | transcript | ENST00000648378.1 | protein_coding | 1280 | chr7 | TogoVar | ||||||
DLX5_chr7_97015396_97029831 | 97023023 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02293.hp1 HG02486.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0041others(4): Show | 20 | 448 | 0.0446 | -9 | c.356 others(24): Show |
DLX5 | ENSG00000105880.7 | transcript | ENST00000648378.1 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634412 | TCTCTCTC others(2): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02735.hp1 NA18992.hp1 |
a0001a0004a0073 | a0001c0004a0004c0003a0073c0054 | a0001c0004t0001a0004c0003t0001a0073c0054t0001 | a0001c0004t0001g0221a0004c0003t0001g0148a0073c0054t0001g0213 | 3 | 282 | 0.0106 | -9 | c.654 others(28): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31175792 | CTCTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0018 | a0018c0061 | a0018c0061t0001 | a0018c0061t0001g0003 | 1 | 126 | 0.0079 | -9 | c.102 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 71/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31187779 | GAGAGAGA others(2): Show |
G | intron_variant | MODIFIER | NA18612.hp1 | a0034 | a0034c0030 | a0034c0030t0003 | a0034c0030t0003g0029 | 1 | 126 | 0.0079 | -9 | c.980 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01258.hp1 HG02040.hp1 others(4): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0002a0002c0012others(3): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(4): Show | a0001c0001t0001g0084a0001c0001t0013g0012a0001c0002t0001g0058others(4): Show | 7 | 126 | 0.0556 | -9 | c.980 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31229759 | CCCACATA others(2): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0060 | 1 | 126 | 0.0079 | -9 | c.928 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 63/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31266216 | ATCTTTGA others(2): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0027 | a0027c0058 | a0027c0058t0019 | a0027c0058t0019g0116 | 1 | 126 | 0.0079 | -9 | c.922 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31284557 | TTTCTTCT others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02698.hp1 HG03130.hp1 others(1): Show |
a0002a0003a0010others(1): Show | a0002c0009a0003c0003a0010c0051others(1): Show | a0002c0009t0010a0003c0003t0027a0010c0051t0011others(1): Show | a0002c0009t0010g0023a0003c0003t0027g0091a0010c0051t0011g0121others(1): Show | 4 | 126 | 0.0318 | -9 | c.922 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31289899 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02015.hp1 HG02145.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0002a0002c0005a0002c0009others(9): Show | a0001c0002t0001a0002c0005t0001a0002c0005t0007others(10): Show | a0001c0002t0001g0105a0002c0005t0001g0049a0002c0005t0007g0092others(10): Show | 13 | 126 | 0.1032 | -9 | c.922 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31346300 | TAAGGGAT others(2): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG02055.hp1 HG02976.hp2 others(1): Show |
a0002a0003a0005 | a0002c0009a0003c0003a0003c0008others(1): Show | a0002c0009t0010a0003c0003t0002a0003c0008t0015others(1): Show | a0002c0009t0010g0023a0003c0003t0002g0043a0003c0008t0015g0123others(1): Show | 4 | 126 | 0.0318 | -9 | c.916 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31384309 | CACTACTA others(2): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02723.hp2 HG02922.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0016a0002c0020others(4): Show | a0001c0002t0001a0002c0016t0001a0002c0020t0028others(4): Show | a0001c0002t0001g0115a0002c0016t0001g0060a0002c0020t0028g0010others(4): Show | 7 | 126 | 0.0556 | -9 | c.908 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31530661 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0032 | a0032c0036 | a0032c0036t0004 | a0032c0036t0004g0011 | 1 | 126 | 0.0079 | -9 | c.821 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31864485 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01106.hp1 others(11): Show |
a0004a0005a0008others(5): Show | a0004c0004a0004c0011a0005c0023others(6): Show | a0004c0004t0001a0004c0004t0002a0004c0011t0001others(8): Show | a0004c0004t0001g0006a0004c0004t0001g0064a0004c0004t0001g0083others(11): Show | 14 | 126 | 0.1111 | -9 | c.709 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 48/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31873861 | ATTCTGGG others(2): Show |
A | intron_variant | MODIFIER | HG01256.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0043 | 1 | 126 | 0.0079 | -9 | c.709 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 48/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32007214 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp1 others(52): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0022others(29): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(39): Show | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0054others(52): Show | 55 | 126 | 0.4365 | -9 | c.643 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32076052 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01928.hp1 NA18961.hp1 NA18988.hp1 others(1): Show |
a0001a0004a0035 | a0001c0002a0001c0022a0004c0011others(1): Show | a0001c0002t0013a0001c0022t0001a0004c0011t0002others(1): Show | a0001c0002t0013g0097a0001c0022t0001g0036a0004c0011t0002g0035others(1): Show | 4 | 126 | 0.0318 | -9 | c.643 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32280156 | ATATATAC others(2): Show |
A | intron_variant | MODIFIER | HG02135.hp1 HG04115.hp1 NA18612.hp1 |
a0003a0009a0034 | a0003c0062a0009c0013a0034c0030 | a0003c0062t0001a0009c0013t0022a0034c0030t0003 | a0003c0062t0001g0078a0009c0013t0022g0066a0034c0030t0003g0029 | 3 | 126 | 0.0238 | -9 | c.629 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32518997 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0010 | a0010c0051 | a0010c0051t0011 | a0010c0051t0011g0121 | 1 | 126 | 0.0079 | -9 | c.216 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32529379 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(39): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0002c0005others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(32): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(39): Show | 42 | 126 | 0.3333 | -9 | c.216 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32558938 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18747.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0090a0001c0002t0001g0104 | 2 | 126 | 0.0159 | -9 | c.199 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32585699 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 126 | 0.0079 | -9 | c.160 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32761336 | CAGAAGTC others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01952.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0012a0003c0014others(3): Show | a0001c0001t0001a0002c0012t0002a0003c0014t0010others(3): Show | a0001c0001t0001g0018a0002c0012t0002g0098a0003c0014t0010g0015others(4): Show | 7 | 126 | 0.0556 | -9 | c.649 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32769839 | TTATAATA others(2): Show |
T | intron_variant | MODIFIER | HG00609.hp1 NA19062.hp1 |
a0004a0007 | a0004c0004a0007c0019 | a0004c0004t0002a0007c0019t0001 | a0004c0004t0002g0086a0007c0019t0001g0052 | 2 | 126 | 0.0159 | -9 | c.649 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32809919 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0054 | a0001c0054t0001 | a0001c0054t0001g0100 | 1 | 126 | 0.0079 | -9 | c.531 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32809946 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0038 | 1 | 126 | 0.0079 | -9 | c.531 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32883823 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0001 | 1 | 126 | 0.0079 | -9 | c.94- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33002850 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0020 | a0002c0020t0030 | a0002c0020t0030g0125 | 1 | 126 | 0.0079 | -9 | c.93+ others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33014821 | GTTTATAT others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01255.hp1 others(17): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0022others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0013others(15): Show | a0001c0001t0001g0018a0001c0001t0001g0084a0001c0001t0004g0101others(17): Show | 20 | 126 | 0.1587 | -9 | c.93+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33124476 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0028 | a0028c0046 | a0028c0046t0029 | a0028c0046t0029g0126 | 1 | 126 | 0.0079 | -9 | c.31+ others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33152160 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(79): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0002c0005others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(54): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0037others(79): Show | 82 | 126 | 0.6508 | -9 | c.31+ others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33190859 | AATATTAT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02056.hp1 others(2): Show |
a0002a0004a0007others(1): Show | a0002c0005a0004c0004a0007c0018others(1): Show | a0002c0005t0001a0004c0004t0001a0007c0018t0001others(1): Show | a0002c0005t0001g0022a0004c0004t0001g0064a0004c0004t0001g0083others(2): Show | 5 | 126 | 0.0397 | -9 | c.31+ others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79061258 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(55): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0028others(52): Show | 58 | 372 | 0.1559 | -9 | c.276 others(26): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45776134 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01261.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0037 | a0001c0001t0005g0017a0001c0001t0005g0036a0001c0001t0005g0079others(4): Show | 11 | 416 | 0.0264 | -9 | c.114 others(28): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 8/14 | chr19 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 858853 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01884.hp1 others(4): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0144a0001c0001t0001g0183a0001c0001t0001g0209others(4): Show | 7 | 306 | 0.0229 | -9 | c.538 others(28): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 858863 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(49): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0093a0001c0001t0001g0145a0001c0001t0001g0148others(49): Show | 52 | 306 | 0.1699 | -9 | c.538 others(28): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 858865 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp1 others(43): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0013a0002c0002t0003others(5): Show | a0001c0001t0001g0092a0001c0001t0001g0161a0001c0001t0001g0176others(43): Show | 46 | 306 | 0.1503 | -9 | c.538 others(28): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 858867 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02083.hp2 HG02895.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0002a0001c0001t0007a0002c0002t0003others(3): Show | a0001c0001t0002g0086a0001c0001t0002g0087a0001c0001t0007g0206others(7): Show | 10 | 306 | 0.0327 | -9 | c.538 others(28): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 871499 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01891.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0004a0001c0001t0007a0001c0001t0016others(3): Show | a0001c0001t0004g0116a0001c0001t0004g0208a0001c0001t0007g0255others(5): Show | 8 | 306 | 0.0261 | -9 | c.539 others(28): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 897090 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01169.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0137others(36): Show | 39 | 306 | 0.1275 | -9 | c.822 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |