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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2C_chr10_269201_694668 | 478321 | A | AGGGAGGG others(33): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 88 | 0.0114 | 40 | c.158 others(57): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 556349 | A | ACCCCCTC others(33): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19007.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0032a0001c0003t0002g0053 | 2 | 88 | 0.0227 | 40 | c.86- others(57): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232000613 | T | TTTTCCTT others(33): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02129.hp2 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0144a0001c0001t0001g0145others(3): Show | 6 | 304 | 0.0197 | 40 | c.-93 others(59): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02293.hp1 HG02735.hp1 others(6): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0154a0001c0001t0001g0155a0001c0001t0003g0185others(6): Show | 9 | 400 | 0.0225 | 40 | c.558 others(55): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02056.hp2 HG02148.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0003a0001c0005t0008 | a0001c0001t0003g0048a0001c0001t0003g0063a0001c0001t0003g0184others(5): Show | 8 | 400 | 0.0200 | 40 | c.558 others(55): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00621.hp1 others(14): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0011 | a0001c0001t0003a0001c0005t0008a0001c0005t0018others(1): Show | a0001c0001t0003g0008a0001c0001t0003g0030a0001c0001t0003g0050others(13): Show | 17 | 400 | 0.0425 | 40 | c.558 others(55): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02273.hp2 NA18997.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0005t0008 | a0001c0001t0008g0087a0001c0005t0008g0095a0001c0005t0008g0096 | 3 | 400 | 0.0075 | 40 | c.558 others(55): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 400 | 0.0025 | 40 | c.558 others(55): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0323a0001c0001t0005g0328 | 2 | 400 | 0.0050 | 40 | c.558 others(55): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAATA others(33): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002others(1): Show | a0001c0001t0001g0319a0001c0001t0005g0315a0001c0001t0005g0316others(6): Show | 10 | 400 | 0.0250 | 40 | c.558 others(55): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAATATA others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0317 | 1 | 400 | 0.0025 | 40 | c.558 others(55): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(33): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0174 | a0001c0003t0174g0004 | 1 | 396 | 0.0025 | 40 | c.*36 others(51): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
DLC1_chr8_13078361_13519851 | 13453427 | T | TGTATATA others(33): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0014 | a0002c0014t0008 | a0002c0014t0008g0080 | 1 | 212 | 0.0047 | 40 | c.102 others(61): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38087525 | C | CAGCATGC others(33): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0012 | a0012c0062 | a0012c0062t0002 | a0012c0062t0002g0134 | 1 | 298 | 0.0034 | 40 | c.157 others(57): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DLG4_chr17_7182187_7222627 | 7184629 | G | GTGTATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0159 | a0001c0001t0159g0161 | 1 | 376 | 0.0027 | 40 | c.*60 others(51): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2557 | chr17 | TogoVar | ||||||
DLG4_chr17_7182187_7222627 | 7211821 | C | CGGGGGGG others(33): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0027 | 1 | 376 | 0.0027 | 40 | c.31- others(55): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77876707 | A | AAGGGAGG others(33): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0108 | 1 | 331 | 0.0030 | 40 | c.305 others(57): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/31 | chr10 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3600749 | T | TATATAGA others(33): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0011 | 1 | 80 | 0.0125 | 40 | c.159 others(61): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3639359 | G | GAGAAAAG others(33): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0078 | 1 | 80 | 0.0125 | 40 | c.159 others(61): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3833130 | A | ATTCCTTC others(33): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0013 | 1 | 80 | 0.0125 | 40 | c.958 others(59): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 747741 | G | GCTCTGCG others(33): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02071.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0026 | a0001c0003t0001g0025a0002c0004t0026g0016 | 2 | 40 | 0.0500 | 40 | c.18+ others(55): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 747807 | T | TGGTGGGA others(33): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG02922.hp2 others(2): Show |
a0002a0003a0004 | a0002c0001a0003c0005a0004c0008 | a0002c0001t0002a0002c0001t0005a0002c0001t0019others(2): Show | a0002c0001t0002g0032a0002c0001t0005g0028a0002c0001t0019g0030others(2): Show | 5 | 40 | 0.1250 | 40 | c.18+ others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 747882 | G | GTCTGCGG others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | 40 | c.18+ others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 748002 | C | CTCTGCGG others(33): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 40 | 0.0250 | 40 | c.18+ others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 748087 | C | CGGTGGGA others(33): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | 40 | c.18+ others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 748222 | G | GTCTGCGG others(33): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 40 | 0.0250 | 40 | c.18+ others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 751039 | A | AAAGGAGC others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03486.hp2 |
a0001a0002 | a0001c0009a0002c0001 | a0001c0009t0012a0002c0001t0002 | a0001c0009t0012g0006a0002c0001t0002g0013 | 2 | 40 | 0.0500 | 40 | c.18+ others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1227153 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | 40 | c.74- others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1430011 | T | TACATATA others(33): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | 40 | c.107 others(59): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01515.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0061a0001c0001t0001g0083a0001c0001t0001g0113others(6): Show | 9 | 266 | 0.0338 | 40 | c.-51 others(55): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTTTATAT others(33): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170a0001c0001t0001g0223 | 2 | 266 | 0.0075 | 40 | c.-51 others(55): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
DMBX1_chr1_46484836_46521216 | 46501192 | C | CCCTTCCT others(33): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0089 | 1 | 430 | 0.0023 | 40 | c.-12 others(57): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMBX1_chr1_46484836_46521216 | 46501213 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0086 | 1 | 430 | 0.0023 | 40 | c.-12 others(57): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMD_chrX_31114222_33216549 | 31293163 | G | GGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01928.hp1 others(2): Show |
a0001a0004a0007others(2): Show | a0001c0022a0004c0004a0007c0019others(2): Show | a0001c0022t0001a0004c0004t0001a0007c0019t0001others(2): Show | a0001c0022t0001g0036a0004c0004t0001g0064a0007c0019t0001g0052others(2): Show | 5 | 126 | 0.0397 | 40 | c.922 others(61): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31394938 | T | TGAGAGAG others(33): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 126 | 0.0079 | 40 | c.908 others(61): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31421958 | T | TACACATA others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02132.hp1 HG02486.hp1 others(8): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0002t0013a0003c0003t0001others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0069a0001c0001t0001g0080others(8): Show | 11 | 126 | 0.0873 | 40 | c.908 others(61): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0001 | 1 | 126 | 0.0079 | 40 | c.821 others(61): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18995.hp1 |
a0002a0033 | a0002c0009a0033c0050 | a0002c0009t0002a0033c0050t0001 | a0002c0009t0002g0002a0033c0050t0001g0119 | 2 | 126 | 0.0159 | 40 | c.821 others(61): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0052 | a0002c0052t0025 | a0002c0052t0025g0095 | 1 | 126 | 0.0079 | 40 | c.821 others(61): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32279966 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02976.hp1 others(5): Show |
a0002a0003a0005others(2): Show | a0002c0009a0002c0012a0002c0020others(5): Show | a0002c0009t0002a0002c0012t0002a0002c0020t0028others(5): Show | a0002c0009t0002g0002a0002c0012t0002g0098a0002c0020t0028g0010others(5): Show | 8 | 126 | 0.0635 | 40 | c.629 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452439 | G | GGGAAAGG others(33): Show |
intron_variant | MODIFIER | HG00738.hp1 NA19068.hp1 |
a0006a0008 | a0006c0032a0008c0010 | a0006c0032t0003a0008c0010t0001 | a0006c0032t0003g0077a0008c0010t0001g0042 | 2 | 126 | 0.0159 | 40 | c.360 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03492.hp1 |
a0004a0014 | a0004c0055a0014c0017 | a0004c0055t0001a0014c0017t0001 | a0004c0055t0001g0007a0014c0017t0001g0114 | 2 | 126 | 0.0159 | 40 | c.280 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02083.hp1 HG04204.hp1 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0002t0013a0002c0005t0001others(5): Show | a0001c0001t0001g0090a0001c0002t0013g0097a0002c0005t0001g0022others(5): Show | 8 | 126 | 0.0635 | 40 | c.280 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32815520 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006 | 1 | 126 | 0.0079 | 40 | c.530 others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33008803 | C | CACATATA others(33): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02738.hp1 HG03209.hp1 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0054a0002c0020others(4): Show | a0001c0002t0001a0001c0054t0001a0002c0020t0030others(4): Show | a0001c0002t0001g0025a0001c0054t0001g0100a0002c0020t0030g0125others(4): Show | 7 | 126 | 0.0556 | 40 | c.93+ others(57): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33008803 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0065 | 1 | 126 | 0.0079 | 40 | c.93+ others(57): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33008803 | C | CGTATATA others(33): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0018 | a0018c0061 | a0018c0061t0001 | a0018c0061t0001g0003 | 1 | 126 | 0.0079 | 40 | c.93+ others(57): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 861596 | G | GGCGGCCG others(33): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0009 | 1 | 306 | 0.0033 | 40 | c.538 others(59): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 861596 | G | GGCGGCCG others(33): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0118others(76): Show | 79 | 306 | 0.2582 | 40 | c.538 others(59): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 861630 | A | AGGGGCAG others(33): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01891.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(5): Show | a0001c0001t0001g0286a0001c0001t0001g0287a0001c0001t0004g0116others(9): Show | 12 | 306 | 0.0392 | 40 | c.538 others(59): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |