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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMBT1_chr10_122555754_122648736 | 122634428 | TCTTCTCT others(23): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG02630.hp2 others(4): Show |
a0001a0006a0008others(2): Show | a0001c0004a0006c0010a0008c0028others(2): Show | a0001c0004t0004a0006c0010t0004a0008c0028t0004others(2): Show | a0001c0004t0004g0163a0006c0010t0004g0226a0008c0028t0004g0255others(4): Show | 7 | 282 | 0.0248 | -30 | c.654 others(49): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122645358 | GGAGGTGG others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03225.hp2 HG03486.hp1 |
a0018 | a0018c0020 | a0018c0020t0002 | a0018c0020t0002g0051a0018c0020t0002g0052a0018c0020t0002g0053 | 3 | 282 | 0.0106 | -30 | c.*19 others(41): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1623 | chr10 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31187716 | TCAGAGAG others(23): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0060 | 1 | 126 | 0.0079 | -30 | c.980 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31187717 | CAGAGAGA others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01243.hp1 others(14): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0009a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0062a0001c0001t0001g0080others(14): Show | 17 | 126 | 0.1349 | -30 | c.980 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32227264 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0052 | a0002c0052t0025 | a0002c0052t0025g0095 | 1 | 126 | 0.0079 | -30 | c.629 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452298 | GGAAAGGG others(23): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03209.hp1 |
a0002a0017 | a0002c0026a0017c0027 | a0002c0026t0006a0017c0027t0001 | a0002c0026t0006g0111a0017c0027t0001g0124 | 2 | 126 | 0.0159 | -30 | c.360 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32601660 | GTAGCATC others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00673.hp1 others(39): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0054others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(30): Show | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0037others(39): Show | 42 | 126 | 0.3333 | -30 | c.148 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 12/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32683996 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0098 | 1 | 126 | 0.0079 | -30 | c.960 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009075 | CATATATG others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(43): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0002c0005others(29): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0026others(36): Show | a0001c0001t0001g0008a0001c0001t0001g0037a0001c0001t0001g0062others(43): Show | 46 | 126 | 0.3651 | -30 | c.93+ others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(23): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0036a0001c0001t0037others(1): Show | a0001c0001t0005g0017a0001c0001t0005g0033a0001c0001t0005g0036others(10): Show | 18 | 416 | 0.0433 | -30 | c.*25 others(39): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 254 | chr19 | TogoVar | |||||
DMRTC1_chrX_72867025_72948837 | 72880587 | GTTTGCTT others(23): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0034 | 1 | 54 | 0.0185 | -30 | c.-94 others(47): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843048 | AAAAAAAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03239.hp1 NA18948.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0036 | 5 | 402 | 0.0124 | -30 | c.-20 others(41): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1993 | chr19 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843049 | AAAAAAAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0026a0001c0001t0003g0056a0001c0002t0001g0016 | 4 | 402 | 0.0100 | -30 | c.-20 others(41): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1992 | chr19 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123321 | GGGGAGAG others(23): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG02735.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0002 | a0001c0002t0002g0015a0001c0006t0002g0016 | 2 | 238 | 0.0084 | -30 | c.110 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3350132 | GACACACA others(23): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0006 | a0001c0006t0023 | a0001c0006t0023g0004 | 1 | 362 | 0.0028 | -30 | c.691 others(47): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123896128 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02615.hp1 others(7): Show |
a0001a0002a0011others(6): Show | a0001c0001a0002c0011a0011c0028others(6): Show | a0001c0001t0001a0002c0011t0001a0011c0028t0001others(6): Show | a0001c0001t0001g0052a0002c0011t0001g0003a0011c0028t0001g0067others(7): Show | 10 | 170 | 0.0588 | -30 | c.928 others(49): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911443 | GGGGGGGT others(23): Show |
G | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0093 | a0002c0093t0002 | a0002c0093t0002g0134 | 1 | 170 | 0.0059 | -30 | c.101 others(49): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225078813 | TCTCTCTC others(23): Show |
T | intron_variant | MODIFIER | HG02818.hp2 NA19010.hp1 |
a0040a0111 | a0040c0122a0111c0119 | a0040c0122t0001a0111c0119t0001 | a0040c0122t0001g0093a0111c0119t0001g0240 | 2 | 240 | 0.0083 | -30 | c.242 others(47): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290641 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp1 HG02572.hp2 others(5): Show |
a0008a0020a0035others(3): Show | a0008c0007a0020c0019a0020c0037others(4): Show | a0008c0007t0001a0020c0019t0001a0020c0037t0001others(4): Show | a0008c0007t0001g0017a0020c0019t0001g0101a0020c0019t0001g0102others(5): Show | 8 | 240 | 0.0333 | -30 | c.846 others(47): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290643 | GTGTGTAT others(23): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0043 | a0043c0075 | a0043c0075t0001 | a0043c0075t0001g0018 | 1 | 240 | 0.0042 | -30 | c.846 others(47): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335332 | TGTGTACA others(23): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 |
a0045a0100 | a0045c0076a0100c0088 | a0045c0076t0001a0100c0088t0001 | a0045c0076t0001g0001a0100c0088t0001g0028 | 2 | 240 | 0.0083 | -30 | c.100 others(51): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335599 | GCATACGT others(23): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG03491.hp1 HG03492.hp2 others(3): Show |
a0021a0038a0040others(2): Show | a0021c0034a0038c0124a0040c0122others(2): Show | a0021c0034t0001a0038c0124t0001a0040c0122t0001others(2): Show | a0021c0034t0001g0089a0021c0034t0001g0090a0038c0124t0001g0094others(3): Show | 6 | 240 | 0.0250 | -30 | c.100 others(51): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335858 | TATATGTA others(23): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01081.hp2 others(41): Show |
a0001a0006a0008others(13): Show | a0001c0001a0001c0008a0006c0006others(15): Show | a0001c0001t0001a0001c0008t0001a0001c0008t0002others(16): Show | a0001c0001t0001g0105a0001c0001t0001g0157a0001c0001t0001g0158others(41): Show | 44 | 240 | 0.1833 | -30 | c.100 others(51): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH5_chr5_13685328_13949688 | 13829898 | TTTTCAAA others(23): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(112): Show |
a0002a0004a0005others(71): Show | a0002c0180a0004c0121a0005c0019others(96): Show | a0002c0180t0012a0004c0121t0001a0005c0019t0001others(97): Show | a0002c0180t0012g0167a0004c0121t0001g0093a0005c0019t0001g0057others(112): Show | 115 | 252 | 0.4564 | -30 | c.624 others(46): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 37/78 | chr5 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195735102 | TTGTACTG others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02886.hp2 others(1): Show |
a0018a0049 | a0018c0018a0049c0026 | a0018c0018t0001a0049c0026t0001 | a0018c0018t0001g0030a0018c0018t0001g0032a0018c0018t0001g0033others(1): Show | 4 | 256 | 0.0156 | -30 | c.*27 others(41): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 2600 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38874037 | CTTTTCTT others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 HG06807.hp1 |
a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0066a0001c0022t0001g0240a0001c0022t0001g0241 | 3 | 284 | 0.0106 | -30 | c.762 others(47): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38874288 | CCCCTCCC others(23): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0076 | a0076c0068 | a0076c0068t0001 | a0076c0068t0001g0200 | 1 | 284 | 0.0035 | -30 | c.762 others(47): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11694840 | CCTTCCTT others(23): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG02132.hp1 others(5): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(5): Show | a0001c0001t0001g0139a0001c0002t0001g0145a0002c0005t0001g0066others(5): Show | 8 | 178 | 0.0449 | -30 | c.487 others(47): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11707990 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01928.hp1 others(1): Show |
a0001a0004a0005 | a0001c0003a0004c0109a0005c0004 | a0001c0003t0001a0004c0109t0001a0005c0004t0001 | a0001c0003t0001g0170a0001c0003t0001g0171a0004c0109t0001g0034others(1): Show | 4 | 178 | 0.0225 | -30 | c.555 others(49): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492493 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 382 | 0.0026 | -30 | c.682 others(45): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI4_chr1_66807885_66929856 | 66845190 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0014t0001others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(107): Show | 110 | 264 | 0.4167 | -30 | c.129 others(49): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 8/16 | chr1 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66892979 | AAGAAAGA others(23): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp2 HG03041.hp1 others(2): Show |
a0002a0004a0005 | a0002c0002a0002c0004a0004c0006others(1): Show | a0002c0002t0001a0002c0004t0001a0004c0006t0001others(1): Show | a0002c0002t0001g0015a0002c0002t0001g0019a0002c0004t0001g0214others(2): Show | 5 | 264 | 0.0189 | -30 | c.530 others(45): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25130536 | CAAAATAA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(171): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(170): Show | 174 | 336 | 0.5179 | -30 | c.100 others(49): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
DNAJB12_chr10_72327863_72359919 | 72356829 | GATATATA others(23): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0014a0001c0001t0018g0083 | 2 | 292 | 0.0069 | -30 | c.-19 others(41): Show |
DNAJB12 | ENSG00000148719.16 | transcript | ENST00000444643.8 | protein_coding | 1911 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67819680 | AAGAAAGA others(23): Show |
A | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 384 | 0.0026 | -30 | c.157 others(47): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67819749 | AGGAAGGA others(23): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0107 | 2 | 384 | 0.0052 | -30 | c.157 others(47): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66020594 | CTGTGTGT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00735.hp2 others(66): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0026others(66): Show | 69 | 254 | 0.2717 | -30 | c.-12 others(41): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 958 | chr8 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229388592 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00621.hp2 others(27): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0015t0001others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0025others(27): Show | 30 | 176 | 0.1705 | -30 | c.172 others(47): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229554857 | AAAGAGAA others(23): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 HG03540.hp1 others(1): Show |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0009c0008t0001 | a0001c0001t0001g0010a0001c0001t0001g0107a0001c0001t0001g0148others(1): Show | 4 | 176 | 0.0227 | -30 | c.848 others(47): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229668522 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 176 | 0.0057 | -30 | c.276 others(49): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10822042 | ACCACACC others(23): Show |
A | intron_variant | MODIFIER | NA20805.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0267 | 1 | 278 | 0.0036 | -30 | c.178 others(49): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DNMT3A_chr2_25222874_25346925 | 25300712 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 294 | 0.0034 | -30 | c.73- others(43): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800690 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 412 | 0.0049 | -30 | c.373 others(45): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNTTIP1_chr20_45786954_45816418 | 45800692 | AAAATATA others(23): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 412 | 0.0024 | -30 | c.373 others(45): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNTTIP1_chr20_45786954_45816418 | 45800694 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02602.hp1 NA18980.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165a0001c0002t0002g0166a0001c0002t0002g0172 | 3 | 412 | 0.0073 | -30 | c.373 others(45): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNTTIP1_chr20_45786954_45816418 | 45814271 | CATATATA others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01243.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0010a0001c0001t0002g0011others(25): Show | 54 | 412 | 0.1311 | -30 | c.*30 others(41): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 2854 | chr20 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 171073 | GGCAGCAC others(23): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0117 | 1 | 339 | 0.0030 | -30 | c.453 others(47): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 171437 | GCACCAGG others(23): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0113 | 1 | 339 | 0.0030 | -30 | c.453 others(47): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126924360 | TGGGAGGC others(23): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01071.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0002a0001c0001t0016a0001c0002t0001others(16): Show | a0001c0001t0002g0008a0001c0001t0002g0013a0001c0001t0002g0032others(20): Show | 23 | 136 | 0.1691 | -30 | c.46+ others(47): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK4_chr7_111721110_112211399 | 111995429 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG03579.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0002a0001c0011t0002 | a0001c0002t0002g0070a0001c0011t0002g0035 | 2 | 106 | 0.0189 | -30 | c.219 others(47): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 4/52 | chr7 | TogoVar |