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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAJC11_chr1_6629170_6706816 | 6656100 | T | TAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01106.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0031a0001c0001t0002g0039a0001c0001t0002g0051others(12): Show | 15 | 366 | 0.0410 | 5 | c.379 others(22): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 4/15 | chr1 | TogoVar | ||||||
DNAJC11_chr1_6629170_6706816 | 6669513 | T | TAGAAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00597.hp2 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0146a0001c0001t0001g0152a0001c0001t0001g0153others(62): Show | 66 | 366 | 0.1803 | 5 | c.277 others(22): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 3/15 | chr1 | TogoVar | ||||||
DNAJC11_chr1_6629170_6706816 | 6695627 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp2 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0009a0001c0001t0002g0021others(54): Show | 59 | 366 | 0.1612 | 5 | c.72+ others(20): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67798039 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG02602.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0099a0001c0001t0001g0107a0001c0001t0001g0264others(1): Show | 4 | 384 | 0.0104 | 5 | c.503 others(20): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67799878 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0078a0001c0001t0001g0096a0001c0001t0001g0098others(232): Show | 237 | 384 | 0.6172 | 5 | c.503 others(22): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67801836 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01167.hp2 HG01258.hp1 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004a0001c0002t0002g0309a0001c0002t0002g0311others(13): Show | 17 | 384 | 0.0443 | 5 | c.502 others(22): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67842665 | G | GTCTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(224): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0078a0001c0001t0001g0093a0001c0001t0001g0094others(219): Show | 227 | 384 | 0.5912 | 5 | c.-46 others(16): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4478 | chr10 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132469963 | C | CTTTTT | intron_variant | MODIFIER | HG01071.hp2 HG02135.hp2 HG02165.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0074others(11): Show | 14 | 318 | 0.0440 | 5 | c.220 others(24): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAJC13_chr3_132412502_132544032 | 132479971 | G | GTTATT | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00738.hp2 others(41): Show |
a0001a0005a0006 | a0001c0001a0001c0003a0005c0008others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0225others(38): Show | 44 | 318 | 0.1384 | 5 | c.277 others(22): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 25/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAJC13_chr3_132412502_132544032 | 132506045 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00621.hp2 others(70): Show |
a0001a0004a0009others(2): Show | a0001c0001a0001c0003a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0022others(67): Show | 73 | 318 | 0.2296 | 5 | c.499 others(22): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAJC15_chr13_43018586_43119213 | 43024337 | G | GTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01928.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0025a0001c0002t0053others(2): Show | a0001c0002t0001g0133a0001c0002t0001g0134a0001c0002t0025g0135others(3): Show | 6 | 352 | 0.0171 | 5 | c.108 others(20): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC16_chr1_15521848_15576733 | 15572352 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00642.hp2 HG02630.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0031a0001c0002t0003others(1): Show | a0001c0001t0001g0295a0001c0001t0031g0101a0001c0002t0003g0135others(3): Show | 6 | 356 | 0.0169 | 5 | c.*41 others(16): Show |
DNAJC16 | ENSG00000116138.13 | transcript | ENST00000375847.8 | protein_coding | 620 | chr1 | TogoVar | ||||||
DNAJC17_chr15_40760161_40812473 | 40807701 | T | TGGGGC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(114): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(94): Show | 117 | 358 | 0.3268 | 5 | c.-26 others(14): Show |
DNAJC17 | ENSG00000104129.10 | transcript | ENST00000220496.9 | protein_coding | 229 | chr15 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21910828 | G | GAAGGA | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(21): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0047others(21): Show | 24 | 164 | 0.1463 | 5 | c.730 others(22): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
DNAJC30_chr7_73675918_73688453 | 73684923 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01433.hp2 HG02257.hp2 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0003g0000others(1): Show | 10 | 380 | 0.0263 | 5 | c.-15 others(16): Show |
DNAJC30 | ENSG00000176410.8 | transcript | ENST00000395176.3 | protein_coding | 1471 | chr7 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95679199 | C | CTTTTT | intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03195.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0029 | a0001c0001t0001g0252a0001c0001t0001g0255a0001c0001t0001g0256others(5): Show | 8 | 374 | 0.0214 | 5 | c.82+ others(20): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95710578 | G | GACATT | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0012a0001c0001t0018a0001c0001t0022others(5): Show | a0001c0001t0012g0362a0001c0001t0012g0363a0001c0001t0012g0364others(10): Show | 13 | 374 | 0.0348 | 5 | c.193 others(22): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95787985 | C | CAAATT | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02818.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0018a0001c0001t0022a0001c0001t0041others(2): Show | a0001c0001t0018g0366a0001c0001t0018g0368a0001c0001t0022g0371others(4): Show | 7 | 374 | 0.0187 | 5 | c.135 others(22): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC5B_chr8_66016553_66106245 | 66025935 | T | TGTAAA | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0087a0001c0001t0004g0085a0001c0001t0004g0086others(2): Show | 5 | 254 | 0.0197 | 5 | c.-14 others(24): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66025936 | T | TTAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0026others(134): Show | 138 | 254 | 0.5433 | 5 | c.-14 others(24): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DNAJC5B_chr8_66016553_66106245 | 66066990 | A | ATGTGT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0003g0018a0001c0001t0003g0019a0001c0001t0003g0022others(19): Show | 22 | 254 | 0.0866 | 5 | c.120 others(22): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66066990 | A | ATGTTT | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp2 HG02257.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0006a0001c0002t0007others(1): Show | a0001c0002t0005g0049a0001c0002t0005g0050a0001c0002t0005g0079others(15): Show | 18 | 254 | 0.0709 | 5 | c.120 others(22): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
DNAJC5_chr20_63890126_63941011 | 63910671 | G | GTTTGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(215): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(192): Show | 218 | 372 | 0.5860 | 5 | c.-12 others(24): Show |
DNAJC5 | ENSG00000101152.12 | transcript | ENST00000360864.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNAJC7_chr17_41971435_42022439 | 41986047 | T | TAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01071.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0039a0001c0001t0001g0043others(57): Show | 63 | 338 | 0.1864 | 5 | c.101 others(24): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 9/13 | chr17 | TogoVar | ||||||
DNAJC7_chr17_41971435_42022439 | 42003950 | A | ATTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01109.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0065others(27): Show | 30 | 338 | 0.0888 | 5 | c.78- others(20): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
DNAJC8_chr1_28195278_28238029 | 28196402 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01169.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0017a0001c0001t0002g0151a0001c0001t0002g0157others(7): Show | 10 | 250 | 0.0400 | 5 | c.*48 others(16): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 3875 | chr1 | TogoVar | ||||||
DNAJC8_chr1_28195278_28238029 | 28234140 | G | GGTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0004others(82): Show | 103 | 250 | 0.4120 | 5 | c.-11 others(16): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 1112 | chr1 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681623 | A | ATATAT | intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0034a0001c0001t0035 | a0001c0001t0033g0232a0001c0001t0034g0190a0001c0001t0035g0170 | 3 | 340 | 0.0088 | 5 | c.265 others(22): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681629 | A | ATATAT | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 NA18942.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0026others(2): Show | a0001c0001t0005g0091a0001c0001t0005g0106a0001c0001t0005g0108others(5): Show | 8 | 340 | 0.0235 | 5 | c.265 others(22): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681631 | A | ATATAT | intron_variant | MODIFIER | HG01081.hp2 NA18612.hp1 NA18747.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0027a0001c0001t0036 | a0001c0001t0005g0136a0001c0001t0027g0002a0001c0001t0027g0152others(2): Show | 6 | 340 | 0.0177 | 5 | c.265 others(22): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
DNAL4_chr22_38773508_38799143 | 38776325 | C | CCCCCT | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0106a0001c0002t0001g0127a0001c0002t0003g0047others(1): Show | 4 | 370 | 0.0108 | 5 | c.*31 others(16): Show |
DNAL4 | ENSG00000100246.13 | transcript | ENST00000216068.9 | protein_coding | 2182 | chr22 | TogoVar | ||||||
DNAL4_chr22_38773508_38799143 | 38797325 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(124): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0023others(51): Show | 127 | 370 | 0.3432 | 5 | c.-33 others(16): Show |
DNAL4 | ENSG00000100246.13 | transcript | ENST00000216068.9 | protein_coding | 3183 | chr22 | TogoVar | ||||||
DNASE1L2_chr16_2231444_2243711 | 2241152 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02809.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0016others(1): Show | 7 | 414 | 0.0169 | 5 | c.*27 others(16): Show |
DNASE1L2 | ENSG00000167968.13 | transcript | ENST00000320700.10 | protein_coding | 2442 | chr16 | TogoVar | ||||||
DNASE1L3_chr3_58187257_58215972 | 58195613 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(69): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0247a0001c0001t0001g0250others(58): Show | 72 | 372 | 0.1936 | 5 | c.705 others(22): Show |
DNASE1L3 | ENSG00000163687.14 | transcript | ENST00000394549.7 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3653841 | A | AAAATG | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01975.hp1 HG03239.hp1 others(4): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0005t0002 | a0002c0002t0002g0006a0002c0005t0002g0006 | 7 | 440 | 0.0159 | 5 | c.-12 others(16): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 849 | chr16 | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3659749 | T | TTTAGA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01070.hp1 others(13): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0007a0002c0005t0002 | a0002c0002t0002g0006a0002c0002t0007g0006a0002c0005t0002g0006others(1): Show | 16 | 440 | 0.0364 | 5 | c.*17 others(16): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 1655 | chr16 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229458135 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01243.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0001g0026others(22): Show | 25 | 176 | 0.1421 | 5 | c.126 others(26): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229500765 | A | ATTTAG | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG01981.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0038a0001c0001t0001g0041others(17): Show | 20 | 176 | 0.1136 | 5 | c.114 others(26): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229510138 | G | GTAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00735.hp1 others(34): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0013others(34): Show | 37 | 176 | 0.2102 | 5 | c.114 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229516800 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00642.hp1 others(35): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0019others(35): Show | 38 | 176 | 0.2159 | 5 | c.994 others(22): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229525974 | A | AATCTT | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02451.hp1 others(7): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0007a0001c0013others(3): Show | a0001c0001t0001a0001c0007t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(7): Show | 10 | 176 | 0.0568 | 5 | c.994 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229554857 | A | AAAGAG | intron_variant | MODIFIER | HG00642.hp2 HG02451.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0061others(3): Show | 6 | 176 | 0.0341 | 5 | c.848 others(22): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229554941 | A | AAAGGG | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG02818.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0090a0001c0001t0001g0122a0001c0002t0001g0163others(4): Show | 7 | 176 | 0.0398 | 5 | c.848 others(22): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229681827 | A | ACACAC | intron_variant | MODIFIER | HG00642.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0068 | 2 | 176 | 0.0114 | 5 | c.276 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229714892 | C | CGGGCA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00735.hp1 others(22): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0013a0001c0015others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0013t0001others(4): Show | a0001c0002t0001g0152a0001c0002t0001g0154a0001c0002t0001g0155others(22): Show | 25 | 176 | 0.1421 | 5 | c.-47 others(14): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 338 | chr2 | TogoVar | ||||||
DNHD1_chr11_6492280_6577020 | 6496505 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00741.hp1 others(9): Show |
a0002a0008a0015others(3): Show | a0002c0002a0002c0031a0008c0005others(5): Show | a0002c0002t0001a0002c0031t0001a0008c0005t0001others(5): Show | a0002c0002t0001g0006a0002c0002t0001g0285a0002c0002t0001g0286others(9): Show | 12 | 342 | 0.0351 | 5 | c.-13 others(16): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 774 | chr11 | TogoVar | ||||||
DNHD1_chr11_6492280_6577020 | 6497812 | C | CCCTTG | 5_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00673.hp2 NA19077.hp2 others(1): Show |
a0001a0102a0112 | a0001c0001a0102c0127a0112c0111 | a0001c0001t0003a0102c0127t0003a0112c0111t0003 | a0001c0001t0003g0030a0001c0001t0003g0034a0102c0127t0003g0033others(1): Show | 4 | 342 | 0.0117 | 5 | c.-39 others(14): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 3/43 | 390 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
DNM1L_chr12_32674301_32750650 | 32686045 | C | CTTTTT | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005a0001c0001t0004g0006a0001c0001t0004g0007others(2): Show | 5 | 230 | 0.0217 | 5 | c.102 others(22): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32687173 | T | TTGTGA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(5): Show | a0001c0002t0002g0001a0001c0002t0002g0016a0001c0002t0002g0019others(51): Show | 55 | 230 | 0.2391 | 5 | c.102 others(22): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32689192 | C | CTATTT | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(5): Show | a0001c0002t0002g0001a0001c0002t0002g0016a0001c0002t0002g0019others(51): Show | 55 | 230 | 0.2391 | 5 | c.102 others(22): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |