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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH9_chr17_11593470_11974748 | 11971663 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 HG03139.hp2 HG03471.hp2 others(1): Show |
a0016a0019a0057others(1): Show | a0016c0011a0019c0017a0057c0060others(1): Show | a0016c0011t0001a0019c0017t0001a0057c0060t0001others(1): Show | a0016c0011t0001g0073a0019c0017t0001g0014a0057c0060t0001g0064others(1): Show | 4 | 178 | 0.0225 | 9 | c.*21 others(20): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 1916 | chr17 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34473273 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG02572.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0006c0006t0001 | a0001c0001t0001g0171a0001c0001t0001g0186a0002c0002t0001g0308others(10): Show | 13 | 382 | 0.0340 | 9 | c.49- others(26): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74286297 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0009a0001c0001t0001g0033a0001c0001t0001g0037others(82): Show | 85 | 398 | 0.2136 | 9 | c.346 others(24): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI4_chr1_66807885_66929856 | 66858532 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp1 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0022a0001c0001t0001g0036a0001c0001t0001g0152others(56): Show | 59 | 264 | 0.2235 | 9 | c.109 others(28): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 7/16 | chr1 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66872217 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01081.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0116a0001c0001t0001g0129a0002c0002t0001g0050others(16): Show | 19 | 264 | 0.0720 | 9 | c.801 others(24): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 5/16 | chr1 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25146599 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01256.hp2 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0106a0002c0002t0001g0107others(15): Show | 19 | 336 | 0.0566 | 9 | c.689 others(24): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 8/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174542 | T | TATATATC others(2): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18984.hp1 NA19066.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0250a0002c0002t0001g0251a0002c0002t0001g0272others(1): Show | 4 | 336 | 0.0119 | 9 | c.22- others(26): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174570 | T | TCATATAT others(2): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18984.hp1 NA19066.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0250a0002c0002t0001g0251a0002c0002t0001g0272others(1): Show | 4 | 336 | 0.0119 | 9 | c.22- others(26): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAJA1_chr9_33020273_33044907 | 33025754 | A | AGGGGCTG others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(1): Show | 4 | 444 | 0.0090 | 9 | c.-11 others(24): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAJA2_chr16_46950362_46978674 | 46970730 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0016others(15): Show | 34 | 280 | 0.1214 | 9 | c.362 others(24): Show |
DNAJA2 | ENSG00000069345.12 | transcript | ENST00000317089.10 | protein_coding | 3/8 | chr16 | TogoVar | ||||||
DNAJA2_chr16_46950362_46978674 | 46971661 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG02273.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0148a0001c0001t0001g0149others(3): Show | 6 | 280 | 0.0214 | 9 | c.139 others(22): Show |
DNAJA2 | ENSG00000069345.12 | transcript | ENST00000317089.10 | protein_coding | 2/8 | chr16 | TogoVar | ||||||
DNAJB13_chr11_73946026_73975281 | 73954032 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341a0001c0001t0001g0342a0001c0001t0001g0343 | 3 | 436 | 0.0069 | 9 | c.68+ others(24): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DNAJB1_chr19_14509769_14523397 | 14521456 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01070.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0003g0006a0001c0001t0003g0023others(4): Show | 24 | 350 | 0.0686 | 9 | c.-31 others(20): Show |
DNAJB1 | ENSG00000132002.9 | transcript | ENST00000254322.3 | protein_coding | 3060 | chr19 | TogoVar | ||||||
DNAJC11_chr1_6629170_6706816 | 6668136 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0128others(11): Show | 14 | 366 | 0.0383 | 9 | c.277 others(24): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 3/15 | chr1 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67801836 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | 384 | 0.0156 | 9 | c.502 others(26): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132487559 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp2 others(9): Show |
a0001a0016 | a0001c0001a0016c0022 | a0001c0001t0001a0001c0001t0004a0016c0022t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0225others(7): Show | 12 | 318 | 0.0377 | 9 | c.326 others(26): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAJC13_chr3_132412502_132544032 | 132532912 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01106.hp1 others(47): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0225others(43): Show | 50 | 318 | 0.1572 | 9 | c.662 others(28): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 55/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAJC15_chr13_43018586_43119213 | 43024893 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0012a0002c0003t0057a0002c0003t0059 | a0002c0003t0012g0008a0002c0003t0012g0284a0002c0003t0012g0286others(4): Show | 7 | 352 | 0.0199 | 9 | c.108 others(26): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC18_chr5_139405203_139444525 | 139435705 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0002a0001c0002t0010others(2): Show | a0001c0001t0009g0049a0001c0002t0002g0003a0001c0002t0002g0011others(22): Show | 36 | 314 | 0.1147 | 9 | c.227 others(26): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21868080 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(85): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0026others(85): Show | 88 | 164 | 0.5366 | 9 | c.978 others(28): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21883251 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | NA19068.hp1 NA19068.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0155a0001c0002t0001g0063 | 2 | 164 | 0.0122 | 9 | c.821 others(24): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 7/11 | chr10 | TogoVar | ||||||
DNAJC5_chr20_63890126_63941011 | 63895194 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00621.hp1 NA19009.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0265a0001c0001t0013g0266a0001c0001t0013g0267 | 3 | 372 | 0.0081 | 9 | c.-12 others(18): Show |
DNAJC5 | ENSG00000101152.12 | transcript | ENST00000360864.9 | protein_coding | 1/5 | 33130 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
DNAJC6_chr1_65304543_65420871 | 65380916 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03017.hp2 HG03239.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0003a0002c0004t0005others(3): Show | a0002c0004t0002g0216a0002c0004t0002g0237a0002c0004t0003g0186others(7): Show | 10 | 326 | 0.0307 | 9 | c.666 others(26): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAJC7_chr17_41971435_42022439 | 42006796 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01243.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0160others(18): Show | 21 | 338 | 0.0621 | 9 | c.78- others(24): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681629 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02630.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0098a0001c0001t0008g0099a0001c0001t0008g0145 | 3 | 340 | 0.0088 | 9 | c.265 others(26): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396713 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02895.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005a0001c0001t0004g0142 | 3 | 279 | 0.0108 | 9 | c.*59 others(20): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4522 | chrX | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3653806 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02723.hp1 NA18940.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0004 | 9 | 440 | 0.0205 | 9 | c.-12 others(20): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 884 | chr16 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229575245 | A | ATATCTTC others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0105 | 2 | 176 | 0.0114 | 9 | c.847 others(28): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229593245 | T | TCCTCCCA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02818.hp1 others(4): Show |
a0002 | a0002c0003a0002c0017 | a0002c0003t0001a0002c0003t0002a0002c0017t0002 | a0002c0003t0001g0006a0002c0003t0001g0007a0002c0003t0001g0014others(4): Show | 7 | 176 | 0.0398 | 9 | c.277 others(26): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229630479 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02647.hp2 NA19066.hp2 NA20129.hp1 |
a0001a0003 | a0001c0001a0001c0007a0003c0004 | a0001c0001t0001a0001c0007t0001a0003c0004t0002 | a0001c0001t0001g0089a0001c0007t0001g0134a0003c0004t0002g0059 | 3 | 176 | 0.0171 | 9 | c.277 others(28): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32717240 | T | TTATATAT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0171others(1): Show | 4 | 230 | 0.0174 | 9 | c.620 others(26): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1_chr9_128198379_128260244 | 128210348 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(120): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0125others(118): Show | 123 | 350 | 0.3514 | 9 | c.161 others(26): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 172106847 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02080.hp2 HG03239.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0033others(2): Show | a0001c0001t0001g0100a0001c0001t0008g0095a0001c0001t0033g0096others(3): Show | 6 | 136 | 0.0441 | 9 | c.154 others(30): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 172290225 | C | CCTAATTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0033g0096a0001c0002t0001g0069a0001c0002t0001g0076others(6): Show | 9 | 136 | 0.0662 | 9 | c.177 others(30): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 172354142 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | NA18998.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0021a0001c0002t0003g0125 | 2 | 136 | 0.0147 | 9 | c.189 others(30): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172359125 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | NA19004.hp1 NA19004.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0087a0001c0001t0003g0097a0001c0001t0006g0022 | 3 | 136 | 0.0221 | 9 | c.189 others(30): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | chr1 | TogoVar | ||||||
DNMT1_chr19_10128346_10199953 | 10180646 | T | TTCATCAT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18948.hp2 NA18970.hp2 others(5): Show |
a0001a0005 | a0001c0007a0005c0011 | a0001c0007t0001a0005c0011t0001 | a0001c0007t0001g0371a0001c0007t0001g0372a0001c0007t0001g0373others(5): Show | 8 | 386 | 0.0207 | 9 | c.226 others(22): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 3/40 | chr19 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25272977 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01243.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0020others(23): Show | a0001c0001t0007g0104a0001c0001t0009g0105a0001c0001t0020g0254others(23): Show | 26 | 294 | 0.0884 | 9 | c.639 others(26): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 6/22 | chr2 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25290320 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0028a0001c0001t0030others(3): Show | a0001c0001t0020g0157a0001c0001t0028g0011a0001c0001t0030g0230others(3): Show | 6 | 294 | 0.0204 | 9 | c.178 others(26): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 3/22 | chr2 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45806365 | A | AAAATAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01943.hp2 HG01981.hp2 others(30): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002a0002c0003t0001g0018a0002c0003t0001g0028others(12): Show | 33 | 412 | 0.0801 | 9 | c.723 others(26): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNTT_chr10_96299434_96343564 | 96314402 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG02280.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0066a0001c0001t0001g0073a0001c0001t0001g0151others(6): Show | 9 | 330 | 0.0273 | 9 | c.204 others(26): Show |
DNTT | ENSG00000107447.8 | transcript | ENST00000371174.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOC2B_chr17_137789_186650 | 179398 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(221): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(188): Show | 224 | 339 | 0.6608 | 9 | c.373 others(26): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224917101 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG01168.hp2 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0116a0001c0001t0002g0117a0001c0001t0002g0150others(16): Show | 19 | 172 | 0.1105 | 9 | c.244 others(24): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 2/55 | chr2 | TogoVar | ||||||
DOCK11_chrX_118490815_118691147 | 118544645 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 211 | 0.0047 | 9 | c.393 others(24): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DOCK11_chrX_118490815_118691147 | 118584439 | T | TTCATAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp2 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0016a0001c0001t0001g0017others(98): Show | 101 | 211 | 0.4787 | 9 | c.159 others(26): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 14/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DOCK11_chrX_118490815_118691147 | 118684271 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0193 | 1 | 211 | 0.0047 | 9 | c.610 others(28): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 52/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 126938737 | T | TGCTACAT others(2): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03704.hp1 |
a0001 | a0001c0040a0001c0049 | a0001c0040t0001a0001c0049t0002 | a0001c0040t0001g0010a0001c0049t0002g0017 | 2 | 136 | 0.0147 | 9 | c.47- others(26): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127026059 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG02027.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0005others(7): Show | a0001c0002t0001a0001c0004t0002a0001c0005t0006others(7): Show | a0001c0002t0001g0079a0001c0002t0001g0090a0001c0004t0002g0056others(8): Show | 11 | 136 | 0.0809 | 9 | c.155 others(26): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 15/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127347850 | T | TCCCCTCC others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02683.hp2 |
a0001 | a0001c0001a0001c0016a0001c0056 | a0001c0001t0002a0001c0016t0005a0001c0056t0001 | a0001c0001t0002g0077a0001c0016t0005g0067a0001c0056t0001g0012 | 3 | 136 | 0.0221 | 9 | c.322 others(28): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 31/51 | chr10 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169764844 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01261.hp2 HG01496.hp2 others(8): Show |
a0001a0004a0009 | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0002g0035a0001c0001t0003g0073a0001c0001t0003g0081others(8): Show | 11 | 184 | 0.0598 | 9 | c.255 others(28): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 25/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |