| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DLG1_chr3_197037560_197303612 | 197278282 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0010 | a0010c0015 | a0010c0015t0002 | a0010c0015t0002g0118 | 1 | 332 | 0.0030 | -13 | c.318 others(30): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
| DLG1_chr3_197037560_197303612 | 197288742 | AAATACAT others(6): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG00741.hp2 others(25): Show |
a0001a0008a0009 | a0001c0001a0008c0010a0009c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0018others(25): Show | 28 | 332 | 0.0843 | -13 | c.152 others(30): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| DLG2_chr11_83450173_85632344 | 84861627 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 14 | 0.0714 | -13 | c.357 others(34): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | ||||||
| DLG2_chr11_83450173_85632344 | 85042457 | GAAAACTA others(6): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 14 | 0.0714 | -13 | c.357 others(32): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | ||||||
| DLG5_chr10_77785791_77931755 | 77837214 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0224 | 1 | 331 | 0.0030 | -13 | c.143 others(32): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 7/31 | chr10 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4106031 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0004a0001c0001t0002g0008a0001c0001t0002g0017others(33): Show | 36 | 80 | 0.4500 | -13 | c.-15 others(34): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4128168 | CATTCAGG others(6): Show |
C | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 80 | 0.0125 | -13 | c.-15 others(34): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4134511 | TCGAGGCA others(6): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0027 | 1 | 80 | 0.0125 | -13 | c.-15 others(34): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4262329 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0004g0016a0001c0001t0005g0042a0001c0001t0012g0053others(3): Show | 6 | 80 | 0.0750 | -13 | c.-26 others(36): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4354887 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03486.hp1 HG03579.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0018a0001c0004t0014 | a0001c0001t0012g0054a0001c0001t0018g0046a0001c0004t0014g0058 | 3 | 80 | 0.0375 | -13 | c.-26 others(36): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 779317 | GGGAGCTG others(6): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0001 | 1 | 40 | 0.0250 | -13 | c.18+ others(30): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 785221 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02818.hp1 NA20300.hp1 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0002t0027a0001c0003t0013 | a0001c0002t0006g0011a0001c0002t0027g0023a0001c0003t0013g0007 | 3 | 40 | 0.0750 | -13 | c.18+ others(30): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 982800 | GGTCCGTT others(6): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 40 | 0.0250 | -13 | c.73+ others(30): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1042742 | GGGTCGTG others(6): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG02071.hp1 |
a0002 | a0002c0001a0002c0004 | a0002c0001t0011a0002c0004t0026 | a0002c0001t0011g0001a0002c0004t0026g0016 | 2 | 40 | 0.0500 | -13 | c.73+ others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1043163 | CGTGGGTG others(6): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG02698.hp1 HG03486.hp2 |
a0001a0002 | a0001c0003a0001c0009a0002c0001 | a0001c0003t0001a0001c0009t0012a0002c0001t0003 | a0001c0003t0001g0025a0001c0009t0012g0006a0002c0001t0003g0017 | 3 | 40 | 0.0750 | -13 | c.73+ others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1093041 | TGCAGCTG others(6): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02976.hp2 NA18906.hp1 |
a0001a0003a0004 | a0001c0002a0003c0005a0004c0008 | a0001c0002t0001a0003c0005t0004a0004c0008t0016 | a0001c0002t0001g0015a0003c0005t0004g0037a0004c0008t0016g0029 | 3 | 40 | 0.0750 | -13 | c.74- others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1210924 | CCCAGCAA others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp1 HG02071.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0001a0001c0002t0010a0002c0001t0001others(1): Show | a0001c0002t0001g0019a0001c0002t0010g0008a0002c0001t0001g0018others(1): Show | 4 | 40 | 0.1000 | -13 | c.74- others(30): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1407833 | CTCATCCT others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -13 | c.107 others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP4_chr20_36301339_36533633 | 36467050 | CTCTCTCT others(6): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 144 | 0.0069 | -13 | c.164 others(34): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/12 | chr20 | TogoVar | ||||||
| DLGAP4_chr20_36301339_36533633 | 36512931 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0035 | 1 | 144 | 0.0069 | -13 | c.251 others(34): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| DLGAP4_chr20_36301339_36533633 | 36525216 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 144 | 0.0069 | -13 | c.260 others(30): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| DLGAP4_chr20_36301339_36533633 | 36525242 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG01106.hp2 others(18): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0022others(18): Show | 21 | 144 | 0.1458 | -13 | c.260 others(30): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| DLK1_chr14_100721892_100743224 | 100726822 | AGGCGGGG others(6): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0097 | 1 | 424 | 0.0024 | -13 | c.-24 others(22): Show |
DLK1 | ENSG00000185559.16 | transcript | ENST00000341267.9 | protein_coding | 69 | chr14 | TogoVar | ||||||
| DLK1_chr14_100721892_100743224 | 100742511 | TACAGGCG others(6): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 424 | 0.0024 | -13 | c.*76 others(24): Show |
DLK1 | ENSG00000185559.16 | transcript | ENST00000341267.9 | protein_coding | 4288 | chr14 | TogoVar | ||||||
| DLL3_chr19_39493947_39513469 | 39510557 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 428 | 0.0023 | -13 | c.*23 others(24): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 2089 | chr19 | TogoVar | ||||||
| DLX2_chr2_172094438_172107900 | 172105235 | CACCATGT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 390 | 0.0026 | -13 | c.-27 others(24): Show |
DLX2 | ENSG00000115844.11 | transcript | ENST00000234198.9 | protein_coding | 2336 | chr2 | TogoVar | ||||||
| DMAC2L_chr14_50307324_50332957 | 50327459 | CTTTTTTT others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0030 | 1 | 400 | 0.0025 | -13 | c.*17 others(24): Show |
DMAC2L | ENSG00000125375.18 | transcript | ENST00000557421.7 | protein_coding | 6/6 | 1748 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
| DMBT1_chr10_122555754_122648736 | 122633421 | AGAAGAAT others(6): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0071 | a0071c0059 | a0071c0059t0002 | a0071c0059t0002g0171 | 1 | 282 | 0.0036 | -13 | c.654 others(28): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122634412 | TCTCTCTC others(6): Show |
T | intron_variant | MODIFIER | HG03486.hp1 NA18955.hp1 |
a0013a0018 | a0013c0069a0018c0020 | a0013c0069t0001a0018c0020t0002 | a0013c0069t0001g0248a0018c0020t0002g0053 | 2 | 282 | 0.0071 | -13 | c.654 others(32): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122634417 | CTCTCTCT others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0070 | a0070c0060 | a0070c0060t0001 | a0070c0060t0001g0239 | 1 | 282 | 0.0036 | -13 | c.654 others(32): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122634468 | CTCTCTCT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0007 | a0007c0006 | a0007c0006t0002 | a0007c0006t0002g0065 | 1 | 282 | 0.0036 | -13 | c.654 others(32): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMC1_chr22_38513948_38575183 | 38570066 | CGAGATTT others(6): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 324 | 0.0031 | -13 | c.-70 others(20): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 1/14 | 1811 | chr22 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02056.hp1 NA18960.hp1 NA18983.hp1 others(2): Show |
a0001a0002a0006others(2): Show | a0001c0002a0002c0005a0006c0032others(2): Show | a0001c0002t0001a0002c0005t0001a0006c0032t0003others(2): Show | a0001c0002t0001g0074a0002c0005t0001g0022a0006c0032t0003g0077others(2): Show | 5 | 126 | 0.0397 | -13 | c.980 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 31393479 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02895.hp1 others(2): Show |
a0002a0005a0008 | a0002c0005a0002c0052a0002c0059others(2): Show | a0002c0005t0007a0002c0052t0025a0002c0059t0012others(2): Show | a0002c0005t0007g0092a0002c0052t0025g0095a0002c0059t0012g0055others(2): Show | 5 | 126 | 0.0397 | -13 | c.908 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 31648617 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0027 | a0027c0058 | a0027c0058t0019 | a0027c0058t0019g0116 | 1 | 126 | 0.0079 | -13 | c.802 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32076052 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0019 | 1 | 126 | 0.0079 | -13 | c.643 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32092724 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(36): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0054others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(31): Show | a0001c0001t0001g0018a0001c0001t0001g0062a0001c0001t0001g0076others(36): Show | 39 | 126 | 0.3095 | -13 | c.643 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32280152 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0093 | 1 | 126 | 0.0079 | -13 | c.629 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32335981 | TTATATAT others(6): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01255.hp1 others(1): Show |
a0002a0003 | a0002c0005a0002c0012a0003c0014 | a0002c0005t0001a0002c0012t0002a0003c0014t0010 | a0002c0005t0001g0040a0002c0005t0001g0049a0002c0012t0002g0122others(1): Show | 4 | 126 | 0.0318 | -13 | c.592 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32628283 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 |
a0005a0010 | a0005c0057a0010c0051 | a0005c0057t0001a0010c0051t0011 | a0005c0057t0001g0109a0010c0051t0011g0121 | 2 | 126 | 0.0159 | -13 | c.133 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32809942 | AAAAAGAA others(6): Show |
A | intron_variant | MODIFIER | NA19012.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0001 | 1 | 126 | 0.0079 | -13 | c.531 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32870958 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 |
a0002a0022 | a0002c0009a0022c0025 | a0002c0009t0002a0022c0025t0006 | a0002c0009t0002g0002a0022c0025t0006g0108 | 2 | 126 | 0.0159 | -13 | c.94- others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32884564 | CAAGTCCT others(6): Show |
C | intron_variant | MODIFIER | HG02129.hp1 NA18948.hp1 NA18955.hp1 others(2): Show |
a0001a0004a0006others(2): Show | a0001c0001a0004c0011a0006c0006others(2): Show | a0001c0001t0016a0004c0011t0001a0006c0006t0001others(2): Show | a0001c0001t0016g0038a0004c0011t0001g0085a0006c0006t0001g0019others(2): Show | 5 | 126 | 0.0397 | -13 | c.94- others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32885896 | TCTCCAAA others(6): Show |
T | intron_variant | MODIFIER | NA18612.hp1 | a0034 | a0034c0030 | a0034c0030t0003 | a0034c0030t0003g0029 | 1 | 126 | 0.0079 | -13 | c.94- others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 33190897 | TTATATAA others(6): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(81): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0022others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(55): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(81): Show | 84 | 126 | 0.6667 | -13 | c.31+ others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
| DMP1_chr4_87645280_87669357 | 87665128 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03130.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0048a0001c0002t0008g0124 | 3 | 430 | 0.0070 | -13 | c.*18 others(24): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 772 | chr4 | TogoVar | ||||||
| DMRT1_chr9_836697_974090 | 858859 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02135.hp1 NA18977.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0012a0002c0002t0005 | a0001c0001t0002g0230a0001c0001t0002g0231a0001c0001t0002g0233others(3): Show | 6 | 306 | 0.0196 | -13 | c.538 others(32): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DMRT1_chr9_836697_974090 | 858861 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG00735.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0141a0001c0001t0001g0217a0001c0001t0001g0220others(34): Show | 37 | 306 | 0.1209 | -13 | c.538 others(32): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DMRT1_chr9_836697_974090 | 858863 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00735.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0088a0001c0001t0001g0189a0001c0001t0001g0191others(23): Show | 26 | 306 | 0.0850 | -13 | c.538 others(32): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DMRT1_chr9_836697_974090 | 858865 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02055.hp1 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0002c0002t0003a0002c0002t0006others(2): Show | a0001c0001t0002g0085a0002c0002t0003g0017a0002c0002t0003g0018others(4): Show | 7 | 306 | 0.0229 | -13 | c.538 others(32): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |