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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 266 | 0.0038 | 29 | c.111 others(48): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATGT others(22): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0026 | a0026c0020 | a0026c0020t0004 | a0026c0020t0004g0180 | 1 | 266 | 0.0038 | 29 | c.111 others(48): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03130.hp1 HG03130.hp2 others(1): Show |
a0007a0027 | a0007c0008a0007c0016a0027c0059 | a0007c0008t0002a0007c0016t0001a0027c0059t0001 | a0007c0008t0002g0081a0007c0016t0001g0041a0007c0016t0001g0045others(1): Show | 4 | 266 | 0.0150 | 29 | c.997 others(48): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 266 | 0.0038 | 29 | c.730 others(48): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02965.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0254 | 2 | 266 | 0.0075 | 29 | c.730 others(48): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0053 | a0053c0093 | a0053c0093t0001 | a0053c0093t0001g0150 | 1 | 266 | 0.0038 | 29 | c.730 others(48): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 266 | 0.0038 | 29 | c.730 others(48): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18962.hp2 |
a0001a0022 | a0001c0001a0022c0028 | a0001c0001t0001a0022c0028t0001 | a0001c0001t0001g0170a0022c0028t0001g0234 | 2 | 266 | 0.0075 | 29 | c.730 others(48): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0046 | 1 | 266 | 0.0038 | 29 | c.133 others(48): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541216 | T | TGAGCGGG others(22): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0124 | a0124c0154 | a0124c0154t0001 | a0124c0154t0001g0087 | 1 | 252 | 0.0040 | 29 | c.253 others(48): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78543287 | G | GTATTTTT others(22): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp1 HG03225.hp1 |
a0011a0097 | a0011c0007a0097c0098 | a0011c0007t0002a0097c0098t0001 | a0011c0007t0002g0045a0011c0007t0002g0130a0097c0098t0001g0104 | 3 | 252 | 0.0119 | 29 | c.253 others(46): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0044 | 1 | 256 | 0.0039 | 29 | c.114 others(50): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0009 | a0009c0055 | a0009c0055t0001 | a0009c0055t0001g0197 | 1 | 284 | 0.0035 | 29 | c.-35 others(44): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11694884 | C | CTGTCTGT others(22): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0018 | a0018c0149 | a0018c0149t0001 | a0018c0149t0001g0011 | 1 | 178 | 0.0056 | 29 | c.487 others(46): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74315680 | C | CACGAAAG others(22): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0153 | 1 | 398 | 0.0025 | 29 | c.*11 others(40): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 797 | chr17 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GAGAGAGA others(22): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 336 | 0.0030 | 29 | c.124 others(48): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174542 | T | TATATATG others(22): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326a0001c0001t0001g0327a0001c0001t0001g0328others(5): Show | 8 | 336 | 0.0238 | 29 | c.22- others(46): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132487559 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 318 | 0.0031 | 29 | c.326 others(46): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAJC15_chr13_43018586_43119213 | 43024893 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG02622.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0008a0002c0003t0028a0002c0003t0045others(1): Show | a0002c0003t0008g0299a0002c0003t0028g0333a0002c0003t0045g0300others(1): Show | 4 | 352 | 0.0114 | 29 | c.108 others(46): 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(22): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 314 | 0.0032 | 29 | c.227 others(46): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
DNAJC24_chr11_31364860_31437835 | 31436038 | T | TTGAATTT others(22): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 354 | 0.0028 | 29 | c.*56 others(40): Show |
DNAJC24 | ENSG00000170946.15 | transcript | ENST00000465995.6 | protein_coding | 3204 | chr11 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02129.hp1 HG02735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0256a0001c0001t0001g0265a0001c0001t0003g0101others(5): Show | 8 | 374 | 0.0214 | 29 | c.83- others(44): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC5_chr20_63890126_63941011 | 63919720 | A | ACCCGGCT others(22): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 372 | 0.0027 | 29 | c.-11 others(46): Show |
DNAJC5 | ENSG00000101152.12 | transcript | ENST00000360864.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNAJC5_chr20_63890126_63941011 | 63919720 | A | ACCCGGCT others(22): Show |
intron_variant | MODIFIER | HG02056.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0241a0001c0001t0007g0248 | 2 | 372 | 0.0054 | 29 | c.-11 others(46): Show |
DNAJC5 | ENSG00000101152.12 | transcript | ENST00000360864.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNAJC7_chr17_41971435_42022439 | 41986047 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 338 | 0.0030 | 29 | c.101 others(48): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 9/13 | chr17 | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3653806 | C | CAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 440 | 0.0023 | 29 | c.-12 others(40): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 884 | chr16 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229369248 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00642.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0029a0001c0001t0001g0032others(50): Show | 53 | 176 | 0.3011 | 29 | c.185 others(48): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229563534 | G | GTCATCAT others(22): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01109.hp2 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0025others(42): Show | 45 | 176 | 0.2557 | 29 | c.848 others(48): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172106847 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0109 | 1 | 136 | 0.0074 | 29 | c.154 others(50): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 172283780 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02083.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0093a0001c0002t0001g0094 | 2 | 136 | 0.0147 | 29 | c.177 others(50): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DOC2B_chr17_137789_186650 | 141282 | G | GTGGGGAG others(22): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0006a0001c0001t0018a0001c0004t0006others(1): Show | a0001c0001t0006g0270a0001c0001t0018g0031a0001c0004t0006g0288others(4): Show | 7 | 339 | 0.0207 | 29 | c.*61 others(40): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 1506 | chr17 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224921112 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02109.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109a0002c0002t0001g0157 | 2 | 172 | 0.0116 | 29 | c.244 others(46): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 2/55 | chr2 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224921112 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0075 | 1 | 172 | 0.0058 | 29 | c.244 others(46): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 2/55 | chr2 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 225018621 | T | TTATATAT others(22): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 | 1 | 172 | 0.0058 | 29 | c.123 others(48): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 1/55 | chr2 | TogoVar | ||||||
DOCK11_chrX_118490815_118691147 | 118647796 | A | AATATATA others(22): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0080a0001c0001t0001g0094a0001c0001t0001g0164others(5): Show | 8 | 211 | 0.0379 | 29 | c.439 others(48): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 40/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DOCK11_chrX_118490815_118691147 | 118648080 | A | AATATAAA others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01071.hp2 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0056a0001c0001t0001g0057others(42): Show | 45 | 211 | 0.2133 | 29 | c.439 others(46): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 40/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 126963640 | C | CTTCCTTC others(22): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0054 | a0001c0054t0011 | a0001c0054t0011g0024 | 1 | 136 | 0.0074 | 29 | c.47- others(44): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127347840 | T | TCCCCTCC others(22): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0040 | 1 | 136 | 0.0074 | 29 | c.322 others(48): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 31/51 | chr10 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 50698517 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0017a0001c0001t0007g0091 | 2 | 212 | 0.0094 | 29 | c.37+ others(46): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK3_chr3_50669927_51389198 | 50925824 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 212 | 0.0047 | 29 | c.219 others(46): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK3_chr3_50669927_51389198 | 51016770 | T | TATATATC others(22): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 212 | 0.0047 | 29 | c.316 others(48): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | chr3 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51016853 | C | CATATATA others(22): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 212 | 0.0047 | 29 | c.316 others(48): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK4_chr7_111721110_112211399 | 111762762 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00140.hp1 NA21309.hp1 |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0002a0006c0013t0002 | a0001c0001t0002g0076a0006c0013t0002g0034 | 2 | 106 | 0.0189 | 29 | c.402 others(48): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 39/52 | chr7 | TogoVar | ||||||
DOCK5_chr8_25179689_25420711 | 25183208 | C | CTTTTTTT others(22): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 NA18988.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0003t0006a0001c0005t0002 | a0001c0001t0002g0101a0001c0003t0006g0108a0001c0005t0002g0100 | 3 | 210 | 0.0143 | 29 | c.-17 others(40): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1480 | chr8 | TogoVar | ||||||
DOCK6_chr19_11194295_11267524 | 11224214 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18953.hp1 |
a0001a0030 | a0001c0002a0030c0054 | a0001c0002t0001a0030c0054t0001 | a0001c0002t0001g0285a0030c0054t0001g0287 | 2 | 314 | 0.0064 | 29 | c.295 others(48): Show |
DOCK6 | ENSG00000130158.14 | transcript | ENST00000294618.12 | protein_coding | 24/47 | chr19 | TogoVar | ||||||
DOCK6_chr19_11194295_11267524 | 11260892 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0031 | a0031c0047 | a0031c0047t0001 | a0031c0047t0001g0304 | 1 | 314 | 0.0032 | 29 | c.44+ others(44): Show |
DOCK6 | ENSG00000130158.14 | transcript | ENST00000294618.12 | protein_coding | 1/47 | chr19 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 277472 | A | AGGGGAGG others(22): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03540.hp1 |
a0002a0011 | a0002c0012a0011c0154 | a0002c0012t0001a0011c0154t0001 | a0002c0012t0001g0093a0011c0154t0001g0067 | 2 | 256 | 0.0078 | 29 | c.156 others(46): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2/47 | chr9 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98961681 | G | GCAGGGCT others(22): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0012 | 1 | 348 | 0.0029 | 29 | c.127 others(46): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 1/52 | chr13 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3491382 | G | GTTCATCT others(22): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 404 | 0.0025 | 29 | c.773 others(46): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DONSON_chr21_33572551_33593684 | 33583200 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01943.hp2 HG01952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0005g0159a0001c0001t0005g0297a0001c0001t0008g0254others(5): Show | 8 | 426 | 0.0188 | 29 | c.964 others(44): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 5/9 | chr21 | TogoVar |