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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIRAS1_chr19_2709567_2726372 | 2713536 | ATCACCTC others(21): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG02258.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0019 | a0001c0001t0013g0024 a0001c0001t0019g0102 |
4 | 392 | 0.0102 | -28 | c.*36 others(39): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1030 | chr19 | TogoVar | |||||||
DIRAS1_chr19_2709567_2726372 | 2714020 | ATCACCTC others(21): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0026 | a0001c0001t0018g0042 a0001c0001t0026g0043 |
2 | 405 | 0.0049 | -28 | c.*31 others(39): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 546 | chr19 | TogoVar | |||||||
DIS3L2_chr2_231956713_232342192 | 232000640 | TTCCTTTC others(21): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 302 | 0.0033 | -28 | c.-93 others(47): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232077955 | CTCTTTCT others(21): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02818.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0005a0004c0012t0001 | a0001c0001t0005g0142 a0004c0012t0001g0077 |
2 | 150 | 0.0133 | -28 | c.367 others(45): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232220112 | AAAATAAA others(21): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251 a0001c0002t0001g0252 |
2 | 56 | 0.0357 | -28 | c.120 others(47): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66331496 | AGTGAGCC others(21): Show |
A | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 398 | 0.0025 | -28 | c.253 others(45): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 14/16 | chr15 | TogoVar | |||||||
DISP1_chr1_222810039_223010995 | 222936625 | ATCTCTCA others(21): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0001 | 2 | 346 | 0.0058 | -28 | c.-17 others(45): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIXDC1_chr11_111932343_112027653 | 111950426 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0136 | 1 | 259 | 0.0039 | -28 | c.60+ others(45): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DIXDC1_chr11_111932343_112027653 | 111950428 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 275 | 0.0036 | -28 | c.60+ others(45): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DKK2_chr4_106916802_107041313 | 106962491 | ATGTGTGT others(21): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02559.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0080 a0001c0001t0001g0085 others(5): Show |
8 | 32 | 0.2500 | -28 | c.223 others(47): Show |
DKK2 | ENSG00000155011.9 | transcript | ENST00000285311.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
DKK3_chr11_11958036_12013626 | 12010738 | AGAGAAAG others(21): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 414 | 0.0024 | -28 | c.-21 others(39): Show |
DKK3 | ENSG00000050165.19 | transcript | ENST00000683431.1 | protein_coding | 2113 | chr11 | TogoVar | |||||||
DKK3_chr11_11958036_12013626 | 12012655 | TATATACA others(21): Show |
T | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 414 | 0.0024 | -28 | c.-41 others(39): Show |
DKK3 | ENSG00000050165.19 | transcript | ENST00000683431.1 | protein_coding | 4030 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112036185 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0204 | 1 | 334 | 0.0030 | -28 | c.788 others(45): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13448831 | GTTATACA others(21): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0069 others(34): Show |
37 | 210 | 0.1762 | -28 | c.102 others(49): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13464746 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0099 | 1 | 97 | 0.0103 | -28 | c.102 others(49): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127439 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 289 | 0.0035 | -28 | c.116 others(47): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127441 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02015.hp1 NA18947.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0107 |
3 | 307 | 0.0098 | -28 | c.116 others(47): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127449 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0007 | a0007c0014 | a0007c0014t0004 | a0007c0014t0004g0208 | 1 | 310 | 0.0032 | -28 | c.116 others(47): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197147432 | GCACACAC others(21): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0315 | 1 | 52 | 0.0192 | -28 | c.537 others(45): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 6/24 | chr3 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83499850 | GAGATATA others(21): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 12 | 0.0833 | -28 | c.219 others(49): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 21/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83734338 | CCCTTCCT others(21): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 2 | 0.5000 | -28 | c.182 others(49): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 85357704 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 7 | 0.1429 | -28 | c.41- others(45): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | |||||||
DLG5_chr10_77785791_77931755 | 77814461 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0007a0001c0009a0001c0025 | a0001c0007t0025a0001c0009t0006a0001c0025t0003 | a0001c0007t0025g0203 a0001c0009t0006g0006 a0001c0009t0006g0007 others(6): Show |
9 | 82 | 0.1098 | -28 | c.402 others(47): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 20/31 | chr10 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3551714 | CCCTCCCT others(21): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0021 | 1 | 66 | 0.0152 | -28 | c.205 others(49): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3772342 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0003t0028a0001c0004t0014 | a0001c0001t0004g0016 a0001c0003t0028g0036 a0001c0004t0014g0058 |
3 | 44 | 0.0682 | -28 | c.117 others(49): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3803957 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG01981.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0008 a0001c0001t0003g0071 a0001c0001t0004g0016 others(7): Show |
10 | 20 | 0.5000 | -28 | c.117 others(49): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3833130 | ATTCCTTC others(21): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 2 | 0.5000 | -28 | c.958 others(47): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4099325 | ATCTATCT others(21): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0022 | 1 | 80 | 0.0125 | -28 | c.-15 others(49): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 967816 | CTATATAT others(21): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 5 | 0.2000 | -28 | c.73+ others(45): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1014835 | TGACCAGG others(21): Show |
T | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0016 | 1 | 40 | 0.0250 | -28 | c.73+ others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1015087 | TGACCAGG others(21): Show |
T | intron_variant | MODIFIER | HG01891.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0014 | a0001c0002t0006g0011 a0001c0003t0014g0020 |
2 | 40 | 0.0500 | -28 | c.73+ others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1015103 | CTCCACTG others(21): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 40 | 0.0250 | -28 | c.73+ others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1103441 | GTGATGAC others(21): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 40 | 0.0250 | -28 | c.74- others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1103469 | TTGATGAC others(21): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01361.hp1 HG01496.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0017others(4): Show | a0001c0002t0001g0015 a0001c0002t0006g0011 a0001c0003t0017g0004 others(4): Show |
7 | 26 | 0.2692 | -28 | c.74- others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1255550 | CTCCTGCC others(21): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0030 | 1 | 40 | 0.0250 | -28 | c.74- others(43): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36310180 | AAAAGAAA others(21): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01106.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0076 a0001c0001t0001g0102 others(15): Show |
18 | 49 | 0.3673 | -28 | c.-30 others(47): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36380593 | AAGAGAGA others(21): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG01167.hp1 others(22): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0066 a0001c0001t0001g0102 others(22): Show |
25 | 33 | 0.7576 | -28 | c.-73 others(47): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DMAC1_chr9_7791500_7804778 | 7796332 | CAGAAATC others(21): Show |
C | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0048 | 1 | 472 | 0.0021 | -28 | c.*22 others(39): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 167 | chr9 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31138624 | GGAGAGAG others(21): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0094 | 1 | 18 | 0.0556 | -28 | c.109 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 76/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31187717 | CAGAGAGA others(21): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02486.hp1 HG03209.hp1 |
a0001a0002a0003 | a0001c0001a0002c0025a0003c0003 | a0001c0001t0003a0002c0025t0008a0003c0003t0001 | a0001c0001t0003g0035 a0002c0025t0008g0108 a0003c0003t0001g0046 |
3 | 15 | 0.2000 | -28 | c.980 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31569624 | GTATATAC others(21): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0027 | a0027c0044 | a0027c0044t0003 | a0027c0044t0003g0122 | 1 | 125 | 0.0080 | -28 | c.821 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32199780 | TTGTGTGT others(21): Show |
T | intron_variant | MODIFIER | HG02293.hp2 HG02451.hp2 HG02922.hp2 |
a0002a0025 | a0002c0009a0002c0023a0025c0026 | a0002c0009t0001a0002c0023t0009a0025c0026t0001 | a0002c0009t0001g0077 a0002c0023t0009g0011 a0025c0026t0001g0126 |
3 | 11 | 0.2727 | -28 | c.643 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32227264 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02572.hp1 others(3): Show |
a0001a0002a0021others(3): Show | a0001c0001a0002c0009a0021c0060others(3): Show | a0001c0001t0002a0002c0009t0007a0021c0060t0001others(3): Show | a0001c0001t0002g0019 a0002c0009t0007g0018 a0021c0060t0001g0113 others(3): Show |
6 | 16 | 0.3750 | -28 | c.629 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32554817 | GGAGGGAG others(21): Show |
G | intron_variant | MODIFIER | HG02293.hp2 HG03486.hp2 |
a0002a0027 | a0002c0009a0027c0044 | a0002c0009t0001a0027c0044t0003 | a0002c0009t0001g0077 a0027c0044t0003g0122 |
2 | 68 | 0.0294 | -28 | c.199 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32554878 | GAAGAAAG others(21): Show |
G | intron_variant | MODIFIER | HG02683.hp1 HG04115.hp1 |
a0010a0013 | a0010c0014a0013c0059 | a0010c0014t0005a0013c0059t0004 | a0010c0014t0005g0074 a0013c0059t0004g0065 |
2 | 78 | 0.0256 | -28 | c.199 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32554915 | AAGAAAGA others(21): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(33): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0002c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0033 others(33): Show |
36 | 126 | 0.2857 | -28 | c.199 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32683996 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 |
a0002a0003 | a0002c0023a0003c0008 | a0002c0023t0009a0003c0008t0003 | a0002c0023t0009g0011 a0003c0008t0003g0116 |
2 | 118 | 0.0169 | -28 | c.960 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009164 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG02965.hp1 |
a0002a0009 | a0002c0051a0009c0015 | a0002c0051t0003a0009c0015t0001 | a0002c0051t0003g0091 a0009c0015t0001g0025 |
2 | 126 | 0.0159 | -28 | c.93+ others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMP1_chr4_87645280_87669357 | 87653386 | GATATATA others(21): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0132 | 1 | 84 | 0.0119 | -28 | c.-22 others(45): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 840722 | GGGGTGTG others(21): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0144 a0001c0001t0001g0239 a0001c0001t0001g0240 others(9): Show |
12 | 89 | 0.1348 | -28 | c.-11 others(39): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar |