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 | 3720888 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02559.hp2 HG03579.hp1 |
a0001a0003 | a0001c0003a0001c0004a0003c0010 | a0001c0003t0005a0001c0004t0002a0003c0010t0003 | a0001c0003t0005g0048a0001c0004t0002g0031a0003c0010t0003g0057 | 3 | 80 | 0.0375 | 17 | c.159 others(36): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4082510 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01192.hp1 HG02135.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0047others(9): Show | 12 | 80 | 0.1500 | 17 | c.-15 others(38): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4354887 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0021 | 1 | 80 | 0.0125 | 17 | c.-26 others(40): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 736421 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02647.hp2 HG02818.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0027a0002c0001t0002a0002c0001t0020 | a0001c0002t0027g0023a0002c0001t0002g0013a0002c0001t0020g0024 | 3 | 40 | 0.0750 | 17 | c.-13 others(28): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1206 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 787980 | G | GCTCTGTG others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01496.hp2 others(12): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(9): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0003t0001g0026others(12): Show | 15 | 40 | 0.3750 | 17 | c.18+ others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 795608 | G | GGAGCAGG others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01361.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0009others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(24): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0002g0021others(29): Show | 32 | 40 | 0.8000 | 17 | c.18+ others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 795616 | T | TGTCCAGT others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 NA20300.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0006a0001c0003t0001a0001c0003t0013others(1): Show | a0001c0002t0006g0011a0001c0003t0001g0025a0001c0003t0013g0007others(1): Show | 4 | 40 | 0.1000 | 17 | c.18+ others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 795709 | G | GAGAGCAG others(10): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02976.hp2 NA18906.hp1 |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0008 | a0001c0002t0001a0002c0001t0020a0004c0008t0016 | a0001c0002t0001g0015a0002c0001t0020g0024a0004c0008t0016g0029 | 3 | 40 | 0.0750 | 17 | c.18+ others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 795871 | C | CGTCCAGT others(10): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 40 | 0.0250 | 17 | c.18+ others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 796058 | T | TGTCCAGT others(10): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02074.hp2 HG03492.hp1 |
a0001a0002 | a0001c0002a0001c0012a0002c0001 | a0001c0002t0009a0001c0012t0004a0002c0001t0007 | a0001c0002t0009g0039a0001c0012t0004g0036a0002c0001t0007g0038 | 3 | 40 | 0.0750 | 17 | c.18+ others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 960237 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 40 | 0.0250 | 17 | c.73+ others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1275831 | A | AATATATA others(10): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02074.hp1 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0006a0001c0003t0001a0001c0003t0013others(4): Show | a0001c0002t0006g0011a0001c0003t0001g0026a0001c0003t0001g0027others(5): Show | 8 | 40 | 0.2000 | 17 | c.106 others(36): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1275859 | T | TATAAATA others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | 17 | c.106 others(36): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1330919 | G | GGGGACTG others(10): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02976.hp2 HG03486.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0009others(1): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0006others(2): Show | a0001c0002t0001g0015a0001c0002t0022g0034a0001c0003t0006g0033others(2): Show | 5 | 40 | 0.1250 | 17 | c.106 others(36): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36467063 | T | TCTCTCTC others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0095 | 1 | 144 | 0.0069 | 17 | c.164 others(38): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36467064 | C | CTCTCTCT others(10): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 144 | 0.0069 | 17 | c.164 others(38): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/12 | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36512931 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 144 | 0.0069 | 17 | c.251 others(38): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36525216 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 144 | 0.0069 | 17 | c.260 others(34): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP5_chr14_55143135_55196585 | 55178027 | C | CGGATCAC others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp1 others(161): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0004a0002c0009others(5): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0003others(7): Show | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0006others(154): Show | 164 | 362 | 0.4530 | 17 | c.775 others(32): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 7/18 | chr14 | TogoVar | ||||||
DLK1_chr14_100721892_100743224 | 100740364 | G | GTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01993.hp1 HG02080.hp1 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0002a0003c0005t0006g0011a0003c0005t0006g0021 | 7 | 424 | 0.0165 | 17 | c.*54 others(28): Show |
DLK1 | ENSG00000185559.16 | transcript | ENST00000341267.9 | protein_coding | 2141 | chr14 | TogoVar | ||||||
DLK1_chr14_100721892_100743224 | 100740364 | G | GTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01361.hp2 HG03669.hp2 |
a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0011a0003c0005t0006g0064a0003c0005t0006g0107 | 3 | 424 | 0.0071 | 17 | c.*54 others(28): Show |
DLK1 | ENSG00000185559.16 | transcript | ENST00000341267.9 | protein_coding | 2141 | chr14 | TogoVar | ||||||
DLX5_chr7_97015396_97029831 | 97016224 | A | ACACACAC others(10): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG02004.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0002g0001 | 4 | 448 | 0.0089 | 17 | c.*45 others(28): Show |
DLX5 | ENSG00000105880.7 | transcript | ENST00000648378.1 | protein_coding | 4171 | chr7 | TogoVar | ||||||
DMAC1_chr9_7791500_7804778 | 7799994 | G | GCCCCCCC others(10): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 474 | 0.0021 | 17 | c.-26 others(26): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 217 | chr9 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122582472 | G | GCGTGCCC others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(42): Show |
a0002a0007a0018others(13): Show | a0002c0002a0002c0095a0002c0099others(16): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(39): Show | 45 | 282 | 0.1596 | 17 | c.106 others(34): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 12/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122595175 | G | GCGTGCCC others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(196): Show |
a0001a0002a0004others(60): Show | a0001c0001a0001c0004a0001c0027others(77): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(86): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0145others(185): Show | 199 | 282 | 0.7057 | 17 | c.256 others(34): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279a0001c0001t0001g0280 | 2 | 324 | 0.0062 | 17 | c.327 others(34): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31119763 | A | AAAGGTCC others(10): Show |
3_prime_UTR_variant | MODIFIER | HG02602.hp1 HG02683.hp1 NA18612.hp1 others(2): Show |
a0001a0006a0011others(2): Show | a0001c0002a0006c0032a0011c0060others(2): Show | a0001c0002t0003a0006c0032t0003a0011c0060t0003others(2): Show | a0001c0002t0003g0113a0006c0032t0003g0077a0011c0060t0003g0072others(2): Show | 5 | 126 | 0.0397 | 17 | c.*21 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 79/79 | 2155 | chrX | TogoVar | |||||
DMD_chrX_31114222_33216549 | 31188562 | C | CTTGGAAA others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 126 | 0.0079 | 17 | c.980 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31266159 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 HG04228.hp1 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0009 | a0001c0001t0001g0069a0008c0010t0009g0004 | 2 | 126 | 0.0159 | 17 | c.922 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31289251 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0049 | 1 | 126 | 0.0079 | 17 | c.922 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31473711 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0015 | a0015c0056 | a0015c0056t0021 | a0015c0056t0021g0045 | 1 | 126 | 0.0079 | 17 | c.893 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 59/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31511336 | A | ATTTATTT others(10): Show |
intron_variant | MODIFIER | HG04204.hp1 NA20805.hp1 |
a0015 | a0015c0043a0015c0056 | a0015c0043t0001a0015c0056t0021 | a0015c0043t0001g0112a0015c0056t0021g0045 | 2 | 126 | 0.0159 | 17 | c.821 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31576759 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02071.hp1 HG02738.hp1 others(2): Show |
a0001a0002a0007 | a0001c0002a0002c0012a0007c0018 | a0001c0002t0001a0001c0002t0002a0002c0012t0002others(1): Show | a0001c0002t0001g0025a0001c0002t0001g0104a0001c0002t0002g0056others(2): Show | 5 | 126 | 0.0397 | 17 | c.821 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31712554 | A | AATGATTG others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01109.hp1 others(17): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0022a0002c0005others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(14): Show | a0001c0001t0001g0018a0001c0001t0004g0101a0001c0022t0001g0036others(17): Show | 20 | 126 | 0.1587 | 17 | c.766 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 52/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GGGTGTGT others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0023 | a0003c0008t0023g0005 | 1 | 126 | 0.0079 | 17 | c.720 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0020 | a0020c0034 | a0020c0034t0001 | a0020c0034t0001g0013 | 1 | 126 | 0.0079 | 17 | c.720 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32013093 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02976.hp2 |
a0001a0005 | a0001c0001a0005c0057 | a0001c0001t0001a0005c0057t0001 | a0001c0001t0001g0062a0005c0057t0001g0109 | 2 | 126 | 0.0159 | 17 | c.643 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32050974 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0040 | 1 | 126 | 0.0079 | 17 | c.643 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32132993 | C | CTTTTCTT others(10): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 126 | 0.0079 | 17 | c.643 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32292302 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01515.hp1 HG01943.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0012others(3): Show | a0001c0001t0002a0001c0002t0002a0002c0012t0002others(4): Show | a0001c0001t0002g0024a0001c0002t0002g0056a0002c0012t0002g0098others(4): Show | 7 | 126 | 0.0556 | 17 | c.611 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 42/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32312941 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0042 | 1 | 126 | 0.0079 | 17 | c.592 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32418972 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 |
a0002a0018 | a0002c0005a0018c0061 | a0002c0005t0001a0018c0061t0001 | a0002c0005t0001g0040a0018c0061t0001g0003 | 2 | 126 | 0.0159 | 17 | c.407 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32451386 | T | TAATAGAG others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0029 | a0029c0044 | a0029c0044t0014 | a0029c0044t0014g0094 | 1 | 126 | 0.0079 | 17 | c.360 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452396 | A | AAAGGGAA others(10): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0019 | 1 | 126 | 0.0079 | 17 | c.360 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32907743 | T | TAATAGTA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 126 | 0.0079 | 17 | c.94- others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32964255 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03225.hp1 |
a0001a0003 | a0001c0002a0003c0014 | a0001c0002t0001a0003c0014t0010 | a0001c0002t0001g0105a0003c0014t0010g0015 | 2 | 126 | 0.0159 | 17 | c.93+ others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33028749 | A | ATGTGTAT others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01928.hp1 others(14): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0022others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(12): Show | a0001c0001t0001g0018a0001c0001t0001g0084a0001c0001t0004g0101others(14): Show | 17 | 126 | 0.1349 | 17 | c.32- others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33051646 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02965.hp1 |
a0002a0008 | a0002c0052a0008c0010 | a0002c0052t0025a0008c0010t0009 | a0002c0052t0025g0095a0008c0010t0009g0004 | 2 | 126 | 0.0159 | 17 | c.32- others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33108868 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00673.hp1 others(50): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0054others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0069a0001c0001t0001g0076others(50): Show | 53 | 126 | 0.4206 | 17 | c.32- others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79050273 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02965.hp1 |
a0002a0004 | a0002c0004a0004c0006 | a0002c0004t0001a0004c0006t0001 | a0002c0004t0001g0183a0004c0006t0001g0070 | 2 | 372 | 0.0054 | 17 | c.745 others(34): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar |