| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DIP2A_chr21_46453891_46575015 | 46528527 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03209.hp2 |
a0001 | a0001c0006 | a0001c0006t0004a0001c0006t0012 | a0001c0006t0004g0145a0001c0006t0012g0152 | 2 | 374 | 0.0054 | -19 | c.110 others(36): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| DIP2B_chr12_50499985_50753657 | 50664829 | GGTTTTTG others(12): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0102 | 1 | 284 | 0.0035 | -19 | c.427 others(36): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 4/37 | chr12 | TogoVar | ||||||
| DIP2B_chr12_50499985_50753657 | 50664830 | GTTTTTGT others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(32): Show | a0001c0001t0001g0027a0001c0001t0001g0114a0001c0001t0001g0115others(117): Show | 120 | 284 | 0.4225 | -19 | c.427 others(36): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 301958 | GGTTTTCA others(12): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(21): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(6): Show | a0001c0003t0002a0001c0005t0002a0001c0006t0001others(8): Show | a0001c0003t0002g0021a0001c0003t0002g0032a0001c0003t0002g0037others(21): Show | 24 | 88 | 0.2727 | -19 | c.398 others(38): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 32/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 477595 | AGGGAGGA others(12): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 88 | 0.0114 | -19 | c.158 others(36): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 678846 | GCACCCAT others(12): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -19 | c.85+ others(36): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 678988 | CCCATCTC others(12): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -19 | c.85+ others(36): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIPK1A_chr1_92837167_92966462 | 92943330 | CTGGAAGC others(12): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02818.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0002t0002a0001c0007t0002 | a0001c0001t0002g0079a0001c0001t0002g0086a0001c0001t0002g0087others(8): Show | 11 | 200 | 0.0550 | -19 | c.54+ others(36): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| DIRAS3_chr1_68040962_68055627 | 68048032 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 376 | 0.0027 | -19 | c.-65 others(34): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| DIRAS3_chr1_68040962_68055627 | 68048040 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0103 | 1 | 376 | 0.0027 | -19 | c.-65 others(34): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| DIS3L2_chr2_231956713_232342192 | 232337214 | CCTGACGA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01074.hp1 others(29): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0009t0002others(6): Show | a0001c0001t0001g0197a0001c0001t0001g0200a0001c0001t0001g0204others(29): Show | 32 | 304 | 0.1053 | -19 | c.*58 others(28): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 23 | chr2 | TogoVar | ||||||
| DISC1_chr1_231621790_232046272 | 231733353 | GGAGTGGT others(12): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02647.hp1 HG02922.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0005t0002a0001c0005t0003others(6): Show | a0001c0001t0001g0032a0001c0005t0002g0016a0001c0005t0003g0029others(6): Show | 9 | 40 | 0.2250 | -19 | c.111 others(40): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DISC1_chr1_231621790_232046272 | 231912740 | CTCTTCTT others(12): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0001a0001c0001t0010g0024 | 2 | 40 | 0.0500 | -19 | c.198 others(40): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DIXDC1_chr11_111932343_112027653 | 111950434 | ATATATTT others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0126 | 1 | 278 | 0.0036 | -19 | c.60+ others(36): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DKK3_chr11_11958036_12013626 | 12010751 | AAAGAAAG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 416 | 0.0072 | -19 | c.-21 others(30): Show |
DKK3 | ENSG00000050165.19 | transcript | ENST00000683431.1 | protein_coding | 2126 | chr11 | TogoVar | ||||||
| DKKL1_chr19_49358877_49380116 | 49361033 | GGGGGGAC others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01891.hp1 HG02055.hp1 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006a0004c0004t0001g0117a0004c0004t0001g0118others(4): Show | 19 | 396 | 0.0480 | -19 | c.-29 others(30): Show |
DKKL1 | ENSG00000104901.7 | transcript | ENST00000221498.7 | protein_coding | 2843 | chr19 | TogoVar | ||||||
| DLAT_chr11_112020408_112069404 | 112055848 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02738.hp2 HG03130.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0007 | a0001c0001t0001g0164a0003c0003t0007g0049 | 2 | 336 | 0.0060 | -19 | c.151 others(38): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DLEC1_chr3_38034208_38129025 | 38087277 | CACACCAT others(12): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0226 | 1 | 298 | 0.0034 | -19 | c.157 others(36): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DLEC1_chr3_38034208_38129025 | 38087336 | CACACCAT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(75): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0014a0001c0016others(14): Show | a0001c0002t0001a0001c0014t0005a0001c0016t0003others(16): Show | a0001c0002t0001g0006a0001c0002t0001g0179a0001c0002t0001g0182others(72): Show | 78 | 298 | 0.2617 | -19 | c.157 others(36): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DLG1_chr3_197037560_197303612 | 197060902 | TGCAACTT others(12): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112a0001c0001t0004g0113 | 2 | 332 | 0.0060 | -19 | c.237 others(36): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 22/24 | chr3 | TogoVar | ||||||
| DLG1_chr3_197037560_197303612 | 197127442 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 332 | 0.0030 | -19 | c.116 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
| DLG1_chr3_197037560_197303612 | 197127446 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 | 1 | 332 | 0.0030 | -19 | c.116 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
| DLG1_chr3_197037560_197303612 | 197127448 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 | 1 | 332 | 0.0030 | -19 | c.116 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
| DLG1_chr3_197037560_197303612 | 197127452 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 332 | 0.0030 | -19 | c.116 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
| DLG1_chr3_197037560_197303612 | 197260750 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0219 | 1 | 332 | 0.0030 | -19 | c.318 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
| DLG1_chr3_197037560_197303612 | 197301279 | TAAAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01952.hp2 HG02004.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0102a0001c0001t0003g0028a0001c0001t0003g0228others(9): Show | 12 | 332 | 0.0361 | -19 | c.-27 others(30): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 2668 | chr3 | TogoVar | ||||||
| DLG1_chr3_197037560_197303612 | 197302157 | TATCTATC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01099.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0110a0001c0001t0002g0189a0001c0001t0002g0190others(12): Show | 15 | 332 | 0.0452 | -19 | c.-36 others(30): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 3546 | chr3 | TogoVar | ||||||
| DLG2_chr11_83450173_85632344 | 84121541 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02717.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0006a0001c0001t0004g0005a0001c0001t0010g0014 | 3 | 14 | 0.2143 | -19 | c.625 others(38): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 9/27 | chr11 | TogoVar | ||||||
| DLG4_chr17_7182187_7222627 | 7205695 | ATCCCCCA others(12): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG02717.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0081a0001c0001t0100others(1): Show | a0001c0001t0061g0317a0001c0001t0081g0320a0001c0001t0100g0319others(1): Show | 4 | 376 | 0.0106 | -19 | c.97- others(34): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2/19 | chr17 | TogoVar | ||||||
| DLG4_chr17_7182187_7222627 | 7205726 | ACAGCCCG others(12): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01361.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0002g0035a0001c0001t0005g0050a0001c0001t0007g0029others(25): Show | 28 | 376 | 0.0745 | -19 | c.97- others(34): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2/19 | chr17 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 3782016 | CTATTCCA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0018others(51): Show | 54 | 80 | 0.6750 | -19 | c.117 others(40): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 3848127 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0028 | 1 | 80 | 0.0125 | -19 | c.957 others(38): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4384960 | TCTTCTTT others(12): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02451.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(10): Show | a0001c0001t0003g0068a0001c0001t0004g0016a0001c0001t0012g0054others(10): Show | 13 | 80 | 0.1625 | -19 | c.-26 others(40): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1050958 | TGGGGTCA others(12): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 40 | 0.0250 | -19 | c.73+ others(38): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1109065 | TGGGTCTG others(12): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | -19 | c.74- others(38): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1109848 | AGGTCTGT others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | -19 | c.74- others(38): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1275865 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | -19 | c.106 others(38): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1647488 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0034 | 1 | 40 | 0.0250 | -19 | c.181 others(40): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLST_chr14_74876916_74908743 | 74879450 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02015.hp1 NA18970.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0102a0001c0002t0002g0105 | 3 | 392 | 0.0077 | -19 | c.-25 others(30): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 2465 | chr14 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122561334 | GATTCCAA others(12): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0048 | a0048c0108 | a0048c0108t0003 | a0048c0108t0003g0035 | 1 | 282 | 0.0036 | -19 | c.61+ others(32): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122561346 | GTCTTGGA others(12): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0087 | a0087c0085 | a0087c0085t0001 | a0087c0085t0001g0086 | 1 | 282 | 0.0036 | -19 | c.61+ others(32): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122634410 | TTTCTCTC others(12): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03540.hp1 |
a0028a0090 | a0028c0036a0090c0046 | a0028c0036t0001a0090c0046t0001 | a0028c0036t0001g0209a0090c0046t0001g0111 | 2 | 282 | 0.0071 | -19 | c.654 others(38): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBX1_chr1_46484836_46521216 | 46501923 | AGTATATA others(12): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0065 | 1 | 430 | 0.0023 | -19 | c.-12 others(36): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01192.hp1 others(19): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(19): Show | a0001c0001t0001g0008a0001c0001t0002g0024a0001c0002t0001g0025others(19): Show | 22 | 126 | 0.1746 | -19 | c.980 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 31648617 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG01515.hp1 others(22): Show |
a0001a0002a0003others(12): Show | a0001c0002a0002c0012a0002c0016others(14): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0051a0001c0002t0001g0074a0001c0002t0001g0088others(22): Show | 25 | 126 | 0.1984 | -19 | c.802 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32279987 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG01943.hp1 HG02056.hp1 others(15): Show |
a0001a0002a0003others(7): Show | a0001c0002a0002c0005a0002c0009others(12): Show | a0001c0002t0001a0002c0005t0001a0002c0005t0007others(14): Show | a0001c0002t0001g0025a0001c0002t0001g0088a0002c0005t0001g0022others(15): Show | 18 | 126 | 0.1429 | -19 | c.629 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32280146 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01069.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0022others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0026others(15): Show | a0001c0001t0001g0062a0001c0001t0004g0101a0001c0001t0026g0039others(16): Show | 19 | 126 | 0.1508 | -19 | c.629 others(38): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 33026313 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01255.hp1 others(16): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0022others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(14): Show | a0001c0001t0001g0018a0001c0001t0001g0084a0001c0001t0004g0101others(16): Show | 19 | 126 | 0.1508 | -19 | c.32- others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 33040277 | TAAGGAAA others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01192.hp1 HG01243.hp1 others(1): Show |
a0001a0004a0017 | a0001c0001a0004c0055a0017c0027 | a0001c0001t0002a0001c0001t0026a0004c0055t0001others(1): Show | a0001c0001t0002g0024a0001c0001t0026g0039a0004c0055t0001g0007others(1): Show | 4 | 126 | 0.0318 | -19 | c.32- others(36): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
| DMGDH_chr5_78992564_79074674 | 79050262 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 372 | 0.0027 | -19 | c.745 others(36): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar |