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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLAT_chr11_112020408_112069404 | 112068983 | TTTTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp2 NA18906.hp2 |
a0005 | a0005c0005a0005c0013 | a0005c0005t0005a0005c0013t0005 | a0005c0005t0005g0053a0005c0013t0005g0214 | 2 | 336 | 0.0060 | -15 | c.*64 others(26): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 4580 | chr11 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13209053 | TTTTCTAA others(8): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0015 | 1 | 212 | 0.0047 | -15 | c.134 others(36): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13479802 | AAAGAAGA others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0013 | a0013c0025 | a0013c0025t0006 | a0013c0025t0006g0024 | 1 | 212 | 0.0047 | -15 | c.102 others(36): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084404 | GGTGGTGG others(8): Show |
G | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191 | 1 | 298 | 0.0034 | -15 | c.126 others(32): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38109318 | GAGCCTGG others(8): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0017 | a0017c0049 | a0017c0049t0002 | a0017c0049t0002g0212 | 1 | 298 | 0.0034 | -15 | c.313 others(31): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 21/36 | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38122649 | TACTCAGT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0040 | 1 | 298 | 0.0034 | -15 | c.*23 others(24): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 37/37 | 239 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
DLG1_chr3_197037560_197303612 | 197073878 | CTTTTTTG others(8): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0322 | 1 | 332 | 0.0030 | -15 | c.200 others(34): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 18/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127452 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 332 | 0.0030 | -15 | c.116 others(34): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197239252 | AAAACCTA others(8): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02132.hp2 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0174a0001c0006t0004g0175 | 2 | 332 | 0.0060 | -15 | c.318 others(34): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197301279 | TAAAAAAA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG02109.hp2 HG02647.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0019a0001c0001t0003g0239a0001c0001t0004g0112others(9): Show | 12 | 332 | 0.0361 | -15 | c.-27 others(26): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 2668 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197302161 | TATCTATC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp1 HG03225.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0236a0001c0001t0003g0229a0001c0001t0003g0235 | 3 | 332 | 0.0090 | -15 | c.-36 others(26): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 3550 | chr3 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 83997730 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 1 | 14 | 0.0714 | -15 | c.920 others(34): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 11/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84112322 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011 | a0001c0001t0001g0010a0001c0001t0006g0012a0001c0001t0011g0013 | 3 | 14 | 0.2143 | -15 | c.625 others(34): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 9/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84443321 | GTAAAATC others(8): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0003g0003others(3): Show | 6 | 14 | 0.4286 | -15 | c.519 others(34): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84533905 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 14 | 0.0714 | -15 | c.519 others(30): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84861625 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0009a0001c0002t0009g0002 | 2 | 14 | 0.1429 | -15 | c.357 others(36): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 85582660 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 14 | 0.0714 | -15 | c.40+ others(32): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | ||||||
DLG3_chrX_70439835_70510490 | 70464190 | TTTTCCTT others(8): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0204 | 2 | 278 | 0.0072 | -15 | c.140 others(34): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DLGAP1_chr18_3491032_4460307 | 3507321 | TAAAACAA others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0038 | 1 | 80 | 0.0125 | -15 | c.257 others(34): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 11/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3574779 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01981.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0001t0003g0071others(9): Show | 12 | 80 | 0.1500 | -15 | c.196 others(34): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3639359 | GAGAAAAG others(8): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0063 | 1 | 80 | 0.0125 | -15 | c.159 others(36): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3765117 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02572.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0004a0001c0001t0003g0071a0001c0001t0012g0054others(4): Show | 7 | 80 | 0.0875 | -15 | c.117 others(36): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3833195 | TTCCTTCC others(8): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0045 | 1 | 80 | 0.0125 | -15 | c.958 others(34): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4354887 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02970.hp2 NA18906.hp2 NA21309.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0016a0001c0002t0024a0001c0004t0001 | a0001c0002t0016g0072a0001c0002t0024g0034a0001c0004t0001g0011 | 3 | 80 | 0.0375 | -15 | c.-26 others(38): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 824017 | CATTTCTT others(8): Show |
C | intron_variant | MODIFIER | HG02818.hp1 NA20300.hp1 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0002t0027a0001c0003t0013 | a0001c0002t0006g0011a0001c0002t0027g0023a0001c0003t0013g0007 | 3 | 40 | 0.0750 | -15 | c.19- others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 824018 | ATTTCTTC others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp1 HG01361.hp2 others(15): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0009others(7): Show | a0001c0002t0001a0001c0002t0009a0001c0002t0010others(15): Show | a0001c0002t0001g0015a0001c0002t0009g0039a0001c0002t0010g0008others(15): Show | 18 | 40 | 0.4500 | -15 | c.19- others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 973888 | TCCGCCAC others(8): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG03486.hp1 |
a0002 | a0002c0001a0002c0007 | a0002c0001t0002a0002c0001t0005a0002c0007t0008 | a0002c0001t0002g0013a0002c0001t0005g0035a0002c0007t0008g0040 | 3 | 40 | 0.0750 | -15 | 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 | 1190397 | CGGGGCAT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01361.hp2 others(15): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0022others(13): Show | a0001c0002t0001g0019a0001c0002t0006g0011a0001c0002t0022g0034others(15): Show | 18 | 40 | 0.4500 | -15 | 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 | 1267244 | TAAATAAA others(8): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | -15 | c.106 others(32): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1380937 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0011a0002c0001 | a0001c0003t0006a0001c0011t0015a0002c0001t0002others(2): Show | a0001c0003t0006g0033a0001c0011t0015g0002a0002c0001t0002g0032others(2): Show | 5 | 40 | 0.1250 | -15 | c.107 others(36): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1452209 | TGTGTTCT others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0014a0002c0001t0005 | a0001c0003t0014g0020a0002c0001t0005g0028 | 2 | 40 | 0.0500 | -15 | c.107 others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1639618 | AATGGTCA others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03492.hp2 NA18906.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0022a0001c0003t0024 | a0001c0002t0002g0021a0001c0002t0022g0034a0001c0003t0024g0003 | 3 | 40 | 0.0750 | -15 | c.181 others(34): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1647488 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | -15 | c.181 others(36): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP3_chr1_34860436_34934650 | 34916646 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(35): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0056a0001c0001t0001g0114others(35): Show | 38 | 266 | 0.1429 | -15 | c.-13 others(34): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36380592 | AAAGAGAG others(8): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 144 | 0.0069 | -15 | c.-73 others(34): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36525216 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03491.hp1 HG03704.hp2 others(2): Show |
a0002 | a0002c0003a0002c0013 | a0002c0003t0002a0002c0013t0002 | a0002c0003t0002g0036a0002c0003t0002g0038a0002c0003t0002g0044others(2): Show | 5 | 144 | 0.0347 | -15 | c.260 others(32): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP5_chr14_55143135_55196585 | 55162099 | CCAAAAAC others(8): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 362 | 0.0028 | -15 | c.165 others(32): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 13/18 | chr14 | TogoVar | ||||||
DLL4_chr15_40924340_40944073 | 40924800 | GTTATTAT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(172): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(50): Show | 175 | 370 | 0.4730 | -15 | c.-48 others(26): Show |
DLL4 | ENSG00000128917.8 | transcript | ENST00000249749.7 | protein_coding | 4539 | chr15 | TogoVar | ||||||
DLST_chr14_74876916_74908743 | 74879450 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0061 | 2 | 392 | 0.0051 | -15 | c.-25 others(26): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 2465 | chr14 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634412 | TCTCTCTC others(8): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02723.hp2 HG02738.hp1 others(5): Show |
a0002a0003a0014others(3): Show | a0002c0095a0003c0005a0014c0023others(3): Show | a0002c0095t0001a0003c0005t0001a0014c0023t0001others(3): Show | a0002c0095t0001g0023a0003c0005t0001g0095a0003c0005t0001g0115others(4): Show | 8 | 282 | 0.0284 | -15 | c.654 others(34): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634414 | TCTCTCTC others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01981.hp2 others(18): Show |
a0003a0004a0005others(9): Show | a0003c0005a0004c0003a0005c0007others(9): Show | a0003c0005t0001a0004c0003t0001a0005c0007t0001others(9): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0096others(15): Show | 21 | 282 | 0.0745 | -15 | c.654 others(34): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122648444 | TCCCTCCT others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0069 | a0069c0056 | a0069c0056t0007 | a0069c0056t0007g0247 | 1 | 282 | 0.0036 | -15 | c.*50 others(26): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 4709 | chr10 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA18945.hp1 NA18984.hp1 others(2): Show |
a0001a0002a0016others(2): Show | a0001c0001a0002c0052a0016c0028others(2): Show | a0001c0001t0001a0002c0052t0025a0016c0028t0005others(2): Show | a0001c0001t0001g0076a0002c0052t0025g0095a0016c0028t0005g0028others(2): Show | 5 | 126 | 0.0397 | -15 | c.980 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31284557 | TTTCTTCT others(8): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 126 | 0.0079 | -15 | c.922 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31347022 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02293.hp2 |
a0002a0004 | a0002c0009a0004c0004 | a0002c0009t0001a0004c0004t0001 | a0002c0009t0001g0065a0004c0004t0001g0064a0004c0004t0001g0083 | 3 | 126 | 0.0238 | -15 | c.916 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31648617 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02135.hp1 HG02293.hp1 others(4): Show |
a0002a0003a0005others(2): Show | a0002c0005a0002c0009a0003c0062others(4): Show | a0002c0005t0001a0002c0009t0010a0003c0062t0001others(4): Show | a0002c0005t0001g0049a0002c0009t0010g0023a0003c0062t0001g0078others(4): Show | 7 | 126 | 0.0556 | -15 | c.802 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32076052 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0008 | a0003c0008t0012 | a0003c0008t0012g0117 | 1 | 126 | 0.0079 | -15 | c.643 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32136552 | TAAACAAA others(8): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp1 HG03710.hp1 |
a0001a0009a0023 | a0001c0001a0009c0013a0023c0041 | a0001c0001t0001a0009c0013t0001a0023c0041t0001 | a0001c0001t0001g0037a0009c0013t0001g0017a0023c0041t0001g0046 | 3 | 126 | 0.0238 | -15 | c.643 others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32280150 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG02027.hp1 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0005others(12): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0002others(12): Show | a0001c0001t0001g0008a0001c0002t0001g0058a0002c0005t0002g0020others(12): Show | 15 | 126 | 0.1191 | -15 | c.629 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452439 | GGGAAAGG others(8): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0120 | 1 | 126 | 0.0079 | -15 | c.360 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar |