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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAJC1_chr10_21751548_22008730 | 21786427 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01358.hp1 HG01433.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0042a0001c0001t0001g0050others(15): Show | 18 | 164 | 0.1098 | -8 | c.109 others(29): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21813167 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0153a0001c0001t0002g0160a0001c0001t0002g0163others(3): Show | 6 | 164 | 0.0366 | -8 | c.979 others(25): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21813175 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01943.hp1 HG01975.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0003 | a0001c0001t0001a0001c0002t0001a0005c0003t0001 | a0001c0001t0001g0047a0001c0001t0001g0057a0001c0001t0001g0058others(6): Show | 9 | 164 | 0.0549 | -8 | c.979 others(25): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21852092 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01081.hp1 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0002t0001a0004c0004t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(16): Show | 19 | 164 | 0.1159 | -8 | c.978 others(27): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21860694 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(108): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012others(108): Show | 111 | 164 | 0.6768 | -8 | c.978 others(27): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21883251 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0049 | 2 | 164 | 0.0122 | -8 | c.821 others(23): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 7/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21892356 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0038a0001c0001t0005g0002 | 2 | 164 | 0.0122 | -8 | c.821 others(25): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 7/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21911040 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01993.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0025a0001c0001t0001g0060a0001c0001t0001g0073others(6): Show | 9 | 164 | 0.0549 | -8 | c.730 others(25): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21911082 | AGGAAGGC others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02723.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158a0001c0001t0002g0159a0001c0001t0002g0160others(3): Show | 6 | 164 | 0.0366 | -8 | c.730 others(25): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21956819 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02083.hp2 HG02647.hp2 HG02723.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(9): Show | 12 | 164 | 0.0732 | -8 | c.223 others(27): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
DNAJC22_chr12_49341888_49358690 | 49343737 | ATTTTTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG01169.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0002g0007others(1): Show | 8 | 362 | 0.0221 | -8 | c.-43 others(19): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 3150 | chr12 | TogoVar | ||||||
DNAJC24_chr11_31364860_31437835 | 31393925 | TTACATTC others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0041a0001c0001t0004g0033a0001c0001t0004g0034others(6): Show | 9 | 354 | 0.0254 | -8 | c.112 others(27): Show |
DNAJC24 | ENSG00000170946.15 | transcript | ENST00000465995.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DNAJC24_chr11_31364860_31437835 | 31417165 | ATTGCCTC others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01243.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(4): Show | a0001c0001t0001g0041a0001c0001t0001g0268a0001c0001t0001g0269others(39): Show | 43 | 354 | 0.1215 | -8 | c.250 others(25): Show |
DNAJC24 | ENSG00000170946.15 | transcript | ENST00000465995.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DNAJC25_chr9_111626334_111659345 | 111642603 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01099.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(2): Show | a0001c0001t0001g0096a0001c0001t0001g0113a0001c0001t0001g0114others(53): Show | 72 | 412 | 0.1748 | -8 | c.337 others(25): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAJC2_chr7_103307289_103349767 | 103346818 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(122): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0023a0001c0001t0001g0042others(70): Show | 125 | 406 | 0.3079 | -8 | c.-22 others(19): Show |
DNAJC2 | ENSG00000105821.15 | transcript | ENST00000379263.8 | protein_coding | 2052 | chr7 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95764645 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02486.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0045others(1): Show | a0001c0001t0002g0170a0001c0001t0006g0141a0001c0001t0045g0023others(1): Show | 4 | 374 | 0.0107 | -8 | c.107 others(25): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC4_chr11_64225548_64239281 | 64237083 | CAAAGAGA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004 | 5 | 338 | 0.0148 | -8 | c.*29 others(19): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2803 | chr11 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237085 | AAGAGAGA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01099.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0017 | 11 | 338 | 0.0325 | -8 | c.*29 others(19): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2805 | chr11 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66020594 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0109a0001c0001t0001g0111others(18): Show | 22 | 254 | 0.0866 | -8 | c.-12 others(19): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 958 | chr8 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66055618 | CCCTTCTA others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0018a0001c0001t0003g0019a0001c0001t0003g0022others(14): Show | 17 | 254 | 0.0669 | -8 | c.119 others(25): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66095658 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018a0001c0001t0003g0019a0001c0001t0003g0022others(8): Show | 11 | 254 | 0.0433 | -8 | c.506 others(25): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DNAJC6_chr1_65304543_65420871 | 65306972 | TTCTCTCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp2 others(42): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0032a0001c0001t0001g0079a0001c0001t0001g0105others(41): Show | 45 | 326 | 0.1380 | -8 | c.-27 others(19): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 2570 | chr1 | TogoVar | ||||||
DNAJC6_chr1_65304543_65420871 | 65307012 | CTCTCTCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02056.hp2 HG02132.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0095a0001c0001t0002g0287a0001c0003t0001g0145others(11): Show | 14 | 326 | 0.0429 | -8 | c.-27 others(19): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 2530 | chr1 | TogoVar | ||||||
DNAJC6_chr1_65304543_65420871 | 65307014 | CTCTCTAT others(1): Show |
C | upstream_gene_variant | MODIFIER | NA18940.hp1 NA18972.hp2 NA19001.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0003 | a0001c0003t0004g0096a0001c0003t0004g0148a0002c0002t0003g0161 | 3 | 326 | 0.0092 | -8 | c.-27 others(19): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 2528 | chr1 | TogoVar | ||||||
DNAJC7_chr17_41971435_42022439 | 42006344 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0246a0001c0002t0002g0247a0001c0002t0002g0248 | 3 | 338 | 0.0089 | -8 | c.78- others(23): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73682869 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00642.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024a0001c0001t0025others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0154a0001c0001t0002g0155others(39): Show | 43 | 340 | 0.1265 | -8 | c.265 others(25): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DNAL1_chr14_73639986_73708732 | 73694237 | TATAAATA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0155a0001c0001t0002g0159others(44): Show | 48 | 340 | 0.1412 | -8 | c.533 others(25): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DNAL4_chr22_38773508_38799143 | 38797325 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01074.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(13): Show | 42 | 370 | 0.1135 | -8 | c.-34 others(19): Show |
DNAL4 | ENSG00000100246.13 | transcript | ENST00000216068.9 | protein_coding | 3183 | chr22 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154407218 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0077 | 1 | 279 | 0.0036 | -8 | c.-87 others(25): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DNASE1L3_chr3_58187257_58215972 | 58187645 | GGTGTGTG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02559.hp1 HG02647.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0250a0001c0001t0001g0254a0001c0001t0002g0010others(10): Show | 13 | 372 | 0.0350 | -8 | c.*50 others(19): Show |
DNASE1L3 | ENSG00000163687.14 | transcript | ENST00000394549.7 | protein_coding | 4611 | chr3 | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3653806 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG01109.hp2 others(12): Show |
a0001a0002a0004 | a0001c0020a0002c0002a0004c0006 | a0001c0020t0001a0002c0002t0001a0002c0002t0004others(3): Show | a0001c0020t0001g0020a0002c0002t0001g0001a0002c0002t0001g0010others(5): Show | 15 | 440 | 0.0341 | -8 | c.-12 others(19): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 884 | chr16 | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3659749 | TTAGATAG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01123.hp1 others(7): Show |
a0001a0012 | a0001c0001a0012c0013 | a0001c0001t0001a0012c0013t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0012c0013t0001g0003 | 10 | 440 | 0.0227 | -8 | c.*17 others(19): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 1655 | chr16 | TogoVar | ||||||
DNASE2B_chr1_84393484_84420018 | 84396603 | ATCTCTCT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(89): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(45): Show | 92 | 426 | 0.2160 | -8 | c.-19 others(19): Show |
DNASE2B | ENSG00000137976.8 | transcript | ENST00000370665.4 | protein_coding | 1880 | chr1 | TogoVar | ||||||
DNASE2B_chr1_84393484_84420018 | 84411425 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01081.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0149a0001c0012t0001g0137others(2): Show | 7 | 426 | 0.0164 | -8 | c.547 others(23): Show |
DNASE2B | ENSG00000137976.8 | transcript | ENST00000370665.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNER_chr2_229352629_229719555 | 229387501 | AAGAAAGA others(1): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02040.hp2 HG03017.hp2 others(11): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0015t0001others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0042others(11): Show | 14 | 176 | 0.0796 | -8 | c.185 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229387509 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG02056.hp2 others(11): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0002a0005c0014others(3): Show | a0001c0001t0001a0001c0002t0001a0005c0014t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0030a0001c0001t0001g0035others(11): Show | 14 | 176 | 0.0796 | -8 | c.185 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229388592 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01071.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0020a0001c0001t0001g0024a0001c0001t0001g0026others(18): Show | 21 | 176 | 0.1193 | -8 | c.172 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229398325 | AATACTTT others(1): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03209.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(1): Show | 4 | 176 | 0.0227 | -8 | c.172 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229484056 | TTGGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG01981.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0038a0001c0001t0001g0041others(17): Show | 20 | 176 | 0.1136 | -8 | c.114 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229554920 | GAGAAGAG others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01346.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0045a0001c0001t0001g0064a0001c0001t0001g0102others(1): Show | 4 | 176 | 0.0227 | -8 | c.848 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229595447 | AATTTTTG others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02622.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0005t0001a0001c0007t0001 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0035others(4): Show | 7 | 176 | 0.0398 | -8 | c.277 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229668418 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(61): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0020others(61): Show | 64 | 176 | 0.3636 | -8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229668530 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0117a0002c0003t0001g0104 | 2 | 176 | 0.0114 | -8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229684116 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0032others(3): Show | 6 | 176 | 0.0341 | -8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229684163 | AGAGAGAG others(1): Show |
A | intron_variant | MODIFIER | HG03017.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0055 | 2 | 176 | 0.0114 | -8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNHD1_chr11_6492280_6577020 | 6517652 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(78): Show |
a0002a0008a0009others(29): Show | a0002c0002a0002c0031a0008c0005others(39): Show | a0002c0002t0001a0002c0031t0001a0008c0005t0001others(39): Show | a0002c0002t0001g0006a0002c0002t0001g0263a0002c0002t0001g0273others(77): Show | 81 | 342 | 0.2368 | -8 | c.139 others(27): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 7/42 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DNHD1_chr11_6492280_6577020 | 6551849 | GAGAATTG others(1): Show |
G | intron_variant | MODIFIER | HG04228.hp2 NA18965.hp1 NA18983.hp1 others(2): Show |
a0024a0026 | a0024c0020a0026c0021 | a0024c0020t0001a0026c0021t0001 | a0024c0020t0001g0007a0026c0021t0001g0264a0026c0021t0001g0266others(1): Show | 5 | 342 | 0.0146 | -8 | c.738 others(27): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 24/42 | chr11 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32699796 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02572.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0018 | a0001c0003t0007g0210a0001c0003t0007g0211a0001c0003t0007g0212others(3): Show | 6 | 230 | 0.0261 | -8 | c.103 others(25): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32703041 | GTCTTTCT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(41): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(2): Show | a0001c0002t0002g0001a0001c0002t0002g0016a0001c0002t0002g0019others(40): Show | 44 | 230 | 0.1913 | -8 | c.250 others(25): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32716742 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0073a0001c0001t0008g0204a0001c0001t0008g0207others(4): Show | 7 | 230 | 0.0304 | -8 | c.620 others(25): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |