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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP1_chr18_3491032_4460307 | 3892113 | AAACACAC others(2): Show |
A | intron_variant | MODIFIER | HG03453.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0040a0001c0004t0002 | a0001c0002t0040g0055 a0001c0004t0002g0035 |
2 | 80 | 0.0250 | -9 | c.-72 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3893581 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01981.hp2 HG02486.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0013a0001c0001t0038others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0044 a0001c0001t0013g0060 others(3): Show |
6 | 38 | 0.1579 | -9 | c.-72 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4011175 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01496.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0003g0068 others(13): Show |
16 | 49 | 0.3265 | -9 | c.-15 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
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 | a0001c0001t0018g0046 a0001c0003t0021g0027 a0001c0004t0014g0058 others(2): Show |
5 | 12 | 0.4167 | -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 | a0001c0001t0002g0047 a0001c0001t0003g0059 a0001c0001t0003g0068 others(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 | a0001c0002t0006g0011 a0001c0003t0001g0025 a0001c0003t0001g0027 others(8): Show |
11 | 13 | 0.8462 | -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 | a0001c0002t0001g0015 a0001c0002t0027g0023 a0001c0003t0001g0027 others(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 | a0001c0002t0001g0015 a0001c0002t0006g0011 a0001c0002t0010g0008 others(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 | a0001c0001t0003g0062 a0001c0001t0003g0069 a0001c0001t0013g0131 |
3 | 107 | 0.0280 | -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 |
a0001a0004 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0008a0001c0005t0026a0001c0010t0002others(1): Show | a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0079 others(3): Show |
6 | 65 | 0.0923 | -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 | a0001c0003t0001g0110 a0001c0003t0001g0152 a0001c0003t0001g0153 others(1): Show |
4 | 360 | 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 | a0002c0002t0001g0014 a0002c0002t0001g0021 a0002c0002t0001g0061 others(3): Show |
10 | 99 | 0.1010 | -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 | a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0002g0005 others(7): Show |
17 | 56 | 0.3036 | -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 | 446 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0041 others(4): Show |
20 | 31 | 0.6452 | -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 |
a0001a0006a0033 | a0001c0002a0006c0004a0033c0035 | a0001c0002t0001a0006c0004t0001a0033c0035t0001 | a0001c0002t0001g0204 a0006c0004t0001g0140 a0033c0035t0001g0197 |
3 | 242 | 0.0124 | -9 | c.654 others(28): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01258.hp1 HG02040.hp1 others(4): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(4): Show | a0001c0001t0001g0082 a0001c0001t0010g0008 a0001c0002t0001g0054 others(4): Show |
7 | 9 | 0.7778 | -9 | c.980 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31284557 | TTTCTTCT others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02698.hp1 HG03130.hp1 others(1): Show |
a0002a0003a0009others(1): Show | a0002c0009a0003c0003a0009c0015others(1): Show | a0002c0009t0007a0003c0003t0017a0009c0015t0001others(1): Show | a0002c0009t0007g0018 a0003c0003t0017g0087 a0009c0015t0001g0025 others(1): Show |
4 | 10 | 0.4000 | -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 | a0001c0002t0001a0002c0005t0001a0002c0009t0002others(9): Show | a0001c0002t0001g0101 a0002c0005t0001g0043 a0002c0005t0001g0088 others(10): Show |
13 | 42 | 0.3095 | -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 | a0002c0009t0007a0003c0003t0002a0003c0008t0002others(1): Show | a0002c0009t0007g0018 a0003c0003t0002g0027 a0003c0008t0002g0125 others(1): Show |
4 | 126 | 0.0317 | -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 | a0001c0002t0001a0002c0016t0001a0002c0020t0019others(4): Show | a0001c0002t0001g0114 a0002c0016t0001g0057 a0002c0020t0019g0006 others(4): Show |
7 | 24 | 0.2917 | -9 | c.908 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | 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 | a0004c0004a0004c0012a0005c0022others(6): Show | a0004c0004t0001a0004c0004t0002a0004c0012t0001others(8): Show | a0004c0004t0001g0002 a0004c0004t0001g0080 a0004c0004t0001g0081 others(11): Show |
14 | 47 | 0.2979 | -9 | c.709 others(30): 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 | a0001c0001a0001c0002a0001c0021others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(37): Show | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0050 others(52): Show |
55 | 86 | 0.6395 | -9 | c.643 others(30): 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 |
a0003a0010a0028 | a0003c0061a0010c0014a0028c0028 | a0003c0061t0001a0010c0014t0005a0028c0028t0004 | a0003c0061t0001g0072 a0010c0014t0005g0074 a0028c0028t0004g0024 |
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 | 32529379 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(39): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0002c0005others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(39): Show |
42 | 43 | 0.9767 | -9 | c.216 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | 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 | a0001c0001a0002c0013a0003c0010others(3): Show | a0001c0001t0001a0002c0013t0002a0003c0010t0007others(3): Show | a0001c0001t0001g0012 a0002c0013t0002g0094 a0003c0010t0007g0010 others(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 | a0004c0004t0002g0083 a0007c0019t0001g0048 |
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 | 33014821 | GTTTATAT others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01255.hp1 others(17): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0010others(15): Show | a0001c0001t0001g0012 a0001c0001t0001g0082 a0001c0001t0006g0097 others(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 | 33152160 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(79): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0002c0005others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0033 others(79): Show |
82 | 106 | 0.7736 | -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 | a0002c0005t0001g0017 a0004c0004t0001g0080 a0004c0004t0001g0081 others(2): Show |
5 | 41 | 0.1220 | -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 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0027 others(50): Show |
58 | 370 | 0.1568 | -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 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0047 others(3): Show |
11 | 373 | 0.0295 | -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 | a0001c0001t0001g0144 a0001c0001t0001g0182 a0001c0001t0001g0209 others(4): Show |
7 | 269 | 0.0260 | -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 | a0001c0001t0001g0093 a0001c0001t0001g0145 a0001c0001t0001g0146 others(49): Show |
52 | 276 | 0.1884 | -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 | a0001c0001t0001g0092 a0001c0001t0001g0160 a0001c0001t0001g0175 others(43): Show |
46 | 296 | 0.1554 | -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 | a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0007g0206 others(7): Show |
10 | 304 | 0.0329 | -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 | a0001c0001t0004g0116 a0001c0001t0004g0208 a0001c0001t0007g0255 others(5): Show |
8 | 122 | 0.0656 | -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 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0137 others(36): Show |
39 | 117 | 0.3333 | -9 | c.822 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41842764 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01255.hp2 others(24): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0002a0001c0002t0001a0005c0007t0001 | a0001c0001t0002g0014 a0001c0002t0001g0002 a0001c0002t0001g0003 others(7): Show |
27 | 118 | 0.2288 | -9 | c.-23 others(20): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 2277 | chr19 | TogoVar | |||||||
DMTF1_chr7_87147453_87201325 | 87167575 | AATCATAT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG01433.hp1 others(18): Show |
a0001a0005 | a0001c0003a0005c0014 | a0001c0003t0003a0001c0003t0004a0005c0014t0004 | a0001c0003t0003g0008 a0001c0003t0003g0012 a0001c0003t0003g0018 others(7): Show |
21 | 360 | 0.0583 | -9 | c.232 others(24): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51497911 | AATCATAG others(2): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG04204.hp1 NA18939.hp1 others(22): Show |
a0002a0015 | a0002c0004a0015c0024 | a0002c0004t0001a0002c0004t0008a0015c0024t0001 | a0002c0004t0001g0009 a0002c0004t0001g0291 a0002c0004t0001g0292 others(21): Show |
25 | 344 | 0.0727 | -9 | c.467 others(26): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 18/43 | chr15 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51521414 | CTAGTAGT others(2): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03579.hp2 HG04115.hp2 |
a0002a0003a0011 | a0002c0033a0003c0003a0011c0034 | a0002c0033t0007a0003c0003t0003a0011c0034t0007 | a0002c0033t0007g0204 a0003c0003t0003g0031 a0011c0034t0007g0205 |
3 | 120 | 0.0250 | -9 | c.243 others(28): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 13/43 | chr15 | TogoVar | |||||||
DNAAF2_chr14_49620174_49640244 | 49638370 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(93): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0012a0003c0003others(3): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(6): Show | a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0009 others(35): Show |
96 | 310 | 0.3097 | -9 | c.-32 others(20): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 3127 | chr14 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55162997 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(69): Show |
a0001a0003a0005others(1): Show | a0001c0004a0003c0002a0005c0008others(1): Show | a0001c0004t0001a0003c0002t0001a0005c0008t0001others(1): Show | a0001c0004t0001g0101 a0003c0002t0001g0002 a0003c0002t0001g0006 others(12): Show |
72 | 192 | 0.3750 | -9 | c.323 others(24): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55483833 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02280.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0005a0004c0007 | a0001c0001t0001a0004c0005t0001a0004c0005t0002others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0112 a0001c0001t0001g0152 others(10): Show |
13 | 47 | 0.2766 | -9 | c.405 others(26): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
DNAAF5_chr7_721699_791475 | 784018 | GCCCCCAC others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0016others(22): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0002g0005 a0001c0001t0002g0066 a0001c0001t0002g0069 others(254): Show |
284 | 376 | 0.7553 | -9 | c.243 others(28): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3300678 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01255.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0036a0001c0003t0004others(3): Show | a0001c0001t0001g0210 a0001c0001t0001g0239 a0001c0001t0001g0240 others(15): Show |
18 | 104 | 0.1731 | -9 | c.178 others(28): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 21/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123866229 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02027.hp1 others(9): Show |
a0013a0017a0024others(6): Show | a0013c0079a0013c0080a0017c0024others(7): Show | a0013c0079t0001a0013c0080t0001a0017c0024t0001others(7): Show | a0013c0079t0001g0080 a0013c0080t0001g0004 a0017c0024t0001g0005 others(9): Show |
12 | 50 | 0.2400 | -9 | c.716 others(26): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 41/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21691169 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(41): Show |
a0001a0006a0007others(39): Show | a0001c0091a0006c0262a0007c0212others(40): Show | a0001c0091t0002a0006c0262t0001a0007c0212t0001others(40): Show | a0001c0091t0002g0015 a0006c0262t0001g0139 a0007c0212t0001g0214 others(41): Show |
44 | 296 | 0.1486 | -9 | c.604 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 35/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21728237 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01109.hp1 others(59): Show |
a0003a0004a0005others(53): Show | a0003c0054a0004c0084a0005c0142others(56): Show | a0003c0054t0002a0004c0084t0001a0005c0142t0003others(56): Show | a0003c0054t0002g0063 a0004c0084t0001g0032 a0005c0142t0003g0055 others(59): Show |
62 | 72 | 0.8611 | -9 | c.744 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |