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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIRAS3_chr1_68040962_68055627 | 68048049 | A | AAATATAT | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0143others(1): Show | 10 | 376 | 0.0266 | 7 | c.-65 others(22): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
DIRAS3_chr1_68040962_68055627 | 68048049 | A | ATATATAT | intron_variant | MODIFIER | HG02683.hp2 HG02896.hp1 HG03492.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0067 | 8 | 376 | 0.0213 | 7 | c.-65 others(22): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232270874 | C | CTCTCTCT | intron_variant | MODIFIER | HG02602.hp2 NA18945.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288a0001c0001t0001g0291a0001c0001t0001g0294 | 3 | 304 | 0.0099 | 7 | c.165 others(26): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232318128 | A | ACAGAGGC | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0011 | a0001c0001t0001a0001c0001t0004a0002c0004t0001others(1): Show | a0001c0001t0001g0197a0001c0001t0001g0200a0001c0001t0001g0204others(14): Show | 17 | 304 | 0.0559 | 7 | c.174 others(28): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DISP1_chr1_222810039_223010995 | 222814909 | T | TCGCCCGC | upstream_gene_variant | MODIFIER | HG02135.hp1 HG02258.hp1 HG03516.hp2 |
a0001a0004a0008 | a0001c0005a0004c0010a0008c0017 | a0001c0005t0001a0004c0010t0001a0008c0017t0001 | a0001c0005t0001g0035a0004c0010t0001g0176a0008c0017t0001g0175 | 3 | 348 | 0.0086 | 7 | c.-32 others(16): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 129 | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222937769 | C | CAAGCCAA | intron_variant | MODIFIER | NA18969.hp1 NA19005.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287a0001c0001t0001g0288a0001c0001t0001g0296 | 3 | 348 | 0.0086 | 7 | c.-17 others(24): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISP1_chr1_222810039_223010995 | 222938760 | A | AAGGAAGG | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00642.hp1 others(53): Show |
a0001a0002a0007others(5): Show | a0001c0005a0001c0006a0001c0007others(10): Show | a0001c0005t0001a0001c0006t0001a0001c0007t0001others(11): Show | a0001c0005t0001g0026a0001c0006t0001g0301a0001c0007t0001g0054others(52): Show | 56 | 348 | 0.1609 | 7 | c.-17 others(24): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISP1_chr1_222810039_223010995 | 222969370 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG02523.hp2 others(10): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0003c0008others(4): Show | a0001c0001t0001a0001c0002t0001a0003c0008t0001others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0056others(10): Show | 13 | 348 | 0.0374 | 7 | c.510 others(26): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISP1_chr1_222810039_223010995 | 222984417 | A | ATATATAT | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01175.hp2 others(21): Show |
a0001a0002a0016 | a0001c0002a0001c0005a0001c0023others(3): Show | a0001c0002t0001a0001c0005t0001a0001c0023t0001others(3): Show | a0001c0002t0001g0073a0001c0002t0001g0074a0001c0002t0001g0190others(21): Show | 24 | 348 | 0.0690 | 7 | c.539 others(24): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222984419 | A | ATATATAT | intron_variant | MODIFIER | HG00621.hp1 HG01934.hp2 HG02004.hp2 others(8): Show |
a0001a0002a0003 | a0001c0005a0001c0007a0002c0003others(1): Show | a0001c0005t0001a0001c0007t0001a0002c0003t0001others(1): Show | a0001c0005t0001g0088a0001c0005t0001g0307a0001c0005t0001g0318others(8): Show | 11 | 348 | 0.0316 | 7 | c.539 others(24): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222992864 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp1 others(113): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0091a0001c0001t0001g0096others(113): Show | 116 | 348 | 0.3333 | 7 | c.889 others(22): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIXDC1_chr11_111932343_112027653 | 111937127 | C | CGGGGGGG | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01099.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0176a0001c0001t0002g0177a0001c0001t0002g0181others(18): Show | 21 | 278 | 0.0755 | 7 | c.-37 others(16): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 215 | chr11 | TogoVar | ||||||
DKC1_chrX_154757864_154782689 | 154764517 | A | ACATTATT | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0139 | 1 | 289 | 0.0035 | 7 | c.17- others(20): Show |
DKC1 | ENSG00000130826.19 | transcript | ENST00000369550.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DKC1_chrX_154757864_154782689 | 154778279 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 289 | 0.0035 | 7 | c.*14 others(18): Show |
DKC1 | ENSG00000130826.19 | transcript | ENST00000369550.10 | protein_coding | 591 | chrX | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13152821 | G | GTAGAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0001c0011a0002c0006 | a0001c0001t0042a0001c0011t0003a0002c0006t0035 | a0001c0001t0042g0042a0001c0011t0003g0049a0002c0006t0035g0016 | 3 | 212 | 0.0142 | 7 | c.134 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13188419 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01167.hp1 others(9): Show |
a0001a0002a0008others(3): Show | a0001c0001a0001c0011a0002c0006others(4): Show | a0001c0001t0001a0001c0001t0042a0001c0001t0053others(7): Show | a0001c0001t0001g0075a0001c0001t0001g0107a0001c0001t0042g0042others(9): Show | 12 | 212 | 0.0566 | 7 | c.134 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13319819 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(77): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0011others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(40): Show | a0001c0001t0001g0059a0001c0001t0001g0071a0001c0001t0001g0090others(77): Show | 80 | 212 | 0.3774 | 7 | c.131 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13345547 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00735.hp2 others(24): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0003others(14): Show | a0001c0001t0001g0059a0001c0001t0003g0023a0001c0001t0003g0068others(24): Show | 27 | 212 | 0.1274 | 7 | c.131 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13382529 | A | AAAGAAAG | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01516.hp2 others(9): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0003c0029others(6): Show | a0001c0001t0001a0001c0001t0012a0003c0003t0006others(8): Show | a0001c0001t0001g0071a0001c0001t0001g0100a0001c0001t0012g0207others(9): Show | 12 | 212 | 0.0566 | 7 | c.131 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13468811 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG02080.hp1 HG02165.hp2 others(8): Show |
a0004a0005 | a0004c0005a0005c0008a0005c0012 | a0004c0005t0002a0004c0005t0033a0005c0008t0001others(2): Show | a0004c0005t0002g0170a0004c0005t0002g0172a0004c0005t0002g0179others(8): Show | 11 | 212 | 0.0519 | 7 | c.102 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197038137 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01070.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0003 | a0001c0001t0002g0126a0001c0001t0002g0144a0001c0001t0002g0148others(10): Show | 13 | 332 | 0.0392 | 7 | c.*64 others(18): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4422 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127453 | A | ATATATAT | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0276a0001c0001t0001g0277a0001c0001t0002g0159others(1): Show | 4 | 332 | 0.0121 | 7 | c.116 others(26): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197158634 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00609.hp2 others(21): Show |
a0001a0004a0009others(1): Show | a0001c0001a0004c0007a0009c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0040others(21): Show | 24 | 332 | 0.0723 | 7 | c.484 others(24): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197273849 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(154): Show |
a0001a0003a0008others(4): Show | a0001c0001a0001c0003a0003c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(154): Show | 157 | 332 | 0.4729 | 7 | c.318 others(24): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 83753826 | T | TATATATG | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010a0001c0001t0002g0001a0001c0001t0003g0003others(2): Show | 5 | 14 | 0.3571 | 7 | c.182 others(28): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 83945968 | T | TTCCTTCC | intron_variant | MODIFIER | HG01099.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0005a0001c0001t0006g0012 | 2 | 14 | 0.1429 | 7 | c.134 others(28): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 14/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84203581 | C | CAAAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0002g0001others(3): Show | 6 | 14 | 0.4286 | 7 | c.574 others(26): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 8/27 | chr11 | TogoVar | ||||||
DLG3_chrX_70439835_70510490 | 70482660 | G | GTTTTTTT | intron_variant | MODIFIER | HG01516.hp2 HG03540.hp2 NA18747.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0016a0001c0001t0001g0155a0001c0001t0001g0160others(4): Show | 8 | 278 | 0.0288 | 7 | c.152 others(26): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DLGAP1_chr18_3491032_4460307 | 3527410 | C | CTGTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0027others(2): Show | a0001c0001t0003g0068a0001c0001t0003g0071a0001c0001t0004g0026others(3): Show | 6 | 80 | 0.0750 | 7 | c.247 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 10/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3567059 | T | TTCATTCA | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0020others(3): Show | a0001c0001t0002g0017a0001c0001t0003g0068a0001c0001t0020g0033others(3): Show | 6 | 80 | 0.0750 | 7 | c.205 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3601846 | G | GAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp1 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0020others(6): Show | a0001c0001t0005g0042a0001c0001t0012g0053a0001c0001t0012g0054others(7): Show | 10 | 80 | 0.1250 | 7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3639755 | C | CTTTTTTT | intron_variant | MODIFIER | HG02965.hp2 HG03209.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0020a0001c0002t0007a0001c0003t0010others(1): Show | a0001c0001t0020g0033a0001c0002t0007g0022a0001c0003t0010g0040others(1): Show | 4 | 80 | 0.0500 | 7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3641411 | C | CCTGTAAT | intron_variant | MODIFIER | HG02135.hp1 HG02257.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0012a0001c0002t0014others(6): Show | a0001c0001t0004g0050a0001c0001t0012g0053a0001c0002t0014g0064others(7): Show | 10 | 80 | 0.1250 | 7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3644401 | T | TTTATTTA | intron_variant | MODIFIER | HG02622.hp1 HG03471.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0042a0001c0004t0032 | a0001c0001t0012g0054a0001c0001t0042g0080a0001c0004t0032g0065 | 3 | 80 | 0.0375 | 7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3848127 | C | CAAAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG03130.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0013a0001c0003t0010others(1): Show | a0001c0001t0001g0003a0001c0001t0013g0060a0001c0003t0010g0040others(1): Show | 4 | 80 | 0.0500 | 7 | c.957 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3935140 | T | TAACACAC | intron_variant | MODIFIER | HG01192.hp2 HG02155.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0041a0001c0002t0031others(3): Show | a0001c0001t0004g0026a0001c0001t0041g0079a0001c0002t0031g0061others(3): Show | 6 | 80 | 0.0750 | 7 | c.-72 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4265637 | C | CCTTCCCT | intron_variant | MODIFIER | HG02622.hp2 HG02965.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0015a0001c0003t0033 | a0001c0001t0002g0047a0001c0003t0015g0078a0001c0003t0033g0077 | 3 | 80 | 0.0375 | 7 | c.-26 others(30): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1509327 | C | CTAAAAAA | intron_variant | MODIFIER | HG01496.hp2 HG02922.hp1 |
a0003 | a0003c0005 | a0003c0005t0002a0003c0005t0004 | a0003c0005t0002g0031a0003c0005t0004g0037 | 2 | 40 | 0.0500 | 7 | c.172 others(24): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | chr8 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36312898 | T | TAAGAGGA | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0115a0001c0001t0021g0114 | 2 | 144 | 0.0139 | 7 | c.-30 others(26): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36467064 | C | CTCTCTCT | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0012 | a0001c0001t0002g0118a0001c0001t0002g0123a0001c0002t0012g0126 | 3 | 144 | 0.0208 | 7 | c.164 others(28): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/12 | chr20 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55176976 | G | GAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG01433.hp1 HG02132.hp1 others(14): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0004c0006t0001 | a0002c0002t0001g0037a0002c0002t0001g0038a0002c0002t0001g0045others(14): Show | 17 | 362 | 0.0470 | 7 | c.104 others(22): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 8/18 | chr14 | TogoVar | ||||||
DLL3_chr19_39493947_39513469 | 39502258 | G | GTTTATTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(89): Show |
a0003a0007 | a0003c0003a0003c0013a0003c0014others(1): Show | a0003c0003t0001a0003c0013t0001a0003c0014t0001others(1): Show | a0003c0003t0001g0005a0003c0003t0001g0008a0003c0003t0001g0011others(38): Show | 92 | 428 | 0.2150 | 7 | c.410 others(22): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DMAC2L_chr14_50307324_50332957 | 50320275 | A | ATTTTTAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(220): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(87): Show | 223 | 400 | 0.5575 | 7 | c.-5- others(22): Show |
DMAC2L | ENSG00000125375.18 | transcript | ENST00000557421.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01993.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0282a0001c0001t0001g0283a0001c0001t0001g0284others(4): Show | 7 | 324 | 0.0216 | 7 | c.327 others(24): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31145662 | A | ATTTTTTT | intron_variant | MODIFIER | HG01515.hp1 HG02451.hp2 HG02895.hp1 |
a0001a0002 | a0001c0002a0002c0024a0002c0059 | a0001c0002t0002a0002c0024t0011a0002c0059t0012 | a0001c0002t0002g0056a0002c0024t0011g0016a0002c0059t0012g0055 | 3 | 126 | 0.0238 | 7 | c.109 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 76/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31152184 | C | CTTTTTTT | intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 NA19043.hp1 |
a0002a0003a0010 | a0002c0012a0003c0008a0010c0031 | a0002c0012t0002a0003c0008t0012a0010c0031t0001 | a0002c0012t0002g0098a0003c0008t0012g0117a0010c0031t0001g0096 | 3 | 126 | 0.0238 | 7 | c.105 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 74/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31162356 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01099.hp1 HG01258.hp1 others(13): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0022others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(12): Show | a0001c0001t0001g0062a0001c0001t0001g0090a0001c0001t0008g0021others(13): Show | 16 | 126 | 0.1270 | 7 | c.105 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 74/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31214926 | A | ATTTCTTT | intron_variant | MODIFIER | HG01069.hp1 HG01099.hp1 HG01255.hp1 others(23): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0022others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(21): Show | a0001c0001t0001g0084a0001c0001t0004g0101a0001c0001t0008g0021others(23): Show | 26 | 126 | 0.2064 | 7 | c.936 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31214937 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01358.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0009t0010others(2): Show | a0001c0001t0001g0062a0001c0002t0001g0051a0002c0009t0010g0023others(2): Show | 5 | 126 | 0.0397 | 7 | c.936 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31214943 | T | TCTTTTTC | intron_variant | MODIFIER | HG02683.hp1 | a0011 | a0011c0060 | a0011c0060t0003 | a0011c0060t0003g0072 | 1 | 126 | 0.0079 | 7 | c.936 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar |