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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 286 | 0.0035 | 35 | c.220 others(52): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45583937 | G | GTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0061 | 1 | 278 | 0.0036 | 35 | c.639 others(52): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY5_chr3_123277296_123454090 | 123303893 | G | GAAGAGAA others(28): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0001 | 1 | 260 | 0.0039 | 35 | c.255 others(52): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 13/20 | chr3 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2852198 | C | CTTTCTTT others(28): Show |
intron_variant | MODIFIER | HG01934.hp1 NA19089.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033a0002c0002t0001g0237 | 2 | 320 | 0.0063 | 35 | c.-21 others(52): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110065539 | C | CCTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0258 | 1 | 288 | 0.0035 | 35 | c.-29 others(54): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69031550 | T | TTTCTTTC others(28): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01884.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0005g0105others(5): Show | 8 | 120 | 0.0667 | 35 | c.210 others(56): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRE3_chr19_14614117_14679844 | 14617399 | T | TTTCTTTC others(28): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 372 | 0.0027 | 35 | c.*20 others(46): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 1717 | chr19 | TogoVar | ||||||
ADGRG4_chrX_136295963_136421890 | 136383881 | C | CTTCCTTT others(28): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0004 | 1 | 229 | 0.0044 | 35 | c.777 others(54): Show |
ADGRG4 | ENSG00000156920.11 | transcript | ENST00000394143.6 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ADGRG6_chr6_142297007_142451261 | 142338017 | G | GTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 260 | 0.0039 | 35 | c.103 others(54): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRG6_chr6_142297007_142451261 | 142338017 | G | GTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 260 | 0.0039 | 35 | c.103 others(54): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRL1_chr19_14142743_14211169 | 14163497 | A | AGAGAGAG others(28): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0196 | 1 | 222 | 0.0045 | 35 | c.395 others(48): Show |
ADGRL1 | ENSG00000072071.17 | transcript | ENST00000361434.8 | protein_coding | 4/22 | chr19 | TogoVar | ||||||
ADNP2_chr18_80104262_80145346 | 80134784 | A | ATCTTAGG others(28): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0154 | 1 | 388 | 0.0026 | 35 | c.199 others(50): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ADORA2B_chr17_15940130_15980746 | 15948307 | G | GGCAGGGA others(28): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(243): Show | 286 | 346 | 0.8266 | 35 | c.335 others(52): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ADORA2B_chr17_15940130_15980746 | 15948308 | G | GCAGGGAA others(28): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0069a0001c0001t0002g0070a0001c0001t0002g0071others(2): Show | 5 | 346 | 0.0145 | 35 | c.335 others(52): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ADORA2B_chr17_15940130_15980746 | 15948309 | C | CAGGGAAA others(28): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01433.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0013a0001c0001t0002g0074others(11): Show | 17 | 346 | 0.0491 | 35 | c.335 others(52): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412784 | A | ACTCGGTT others(28): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02148.hp1 HG03516.hp2 others(2): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0011 | a0002c0002t0002a0002c0002t0003a0002c0002t0078others(2): Show | a0002c0002t0002g0092a0002c0002t0003g0084a0002c0002t0078g0232others(2): Show | 5 | 262 | 0.0191 | 35 | c.106 others(54): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412784 | A | ACTCGGTT others(28): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02622.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0065a0002c0002t0066others(2): Show | a0002c0002t0020g0065a0002c0002t0020g0220a0002c0002t0065g0219others(3): Show | 6 | 262 | 0.0229 | 35 | c.106 others(54): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412808 | C | CGCCCCGC others(28): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01167.hp1 others(26): Show |
a0003a0004a0006others(5): Show | a0003c0003a0003c0015a0004c0005others(6): Show | a0003c0003t0008a0003c0003t0009a0003c0003t0022others(18): Show | a0003c0003t0008g0027a0003c0003t0008g0105a0003c0003t0008g0236others(26): Show | 29 | 262 | 0.1107 | 35 | c.106 others(54): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412814 | G | GCAGAACT others(28): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0019 | a0004c0019t0097 | a0004c0019t0097g0055 | 1 | 262 | 0.0038 | 35 | c.106 others(54): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412814 | G | GCAGAACT others(28): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0019 | a0004c0019t0098 | a0004c0019t0098g0112 | 1 | 262 | 0.0038 | 35 | c.106 others(54): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412851 | A | AGAACTCG others(28): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG03225.hp1 others(1): Show |
a0002a0027a0031 | a0002c0002a0027c0032a0031c0034 | a0002c0002t0003a0027c0032t0027a0031c0034t0031 | a0002c0002t0003g0057a0002c0002t0003g0197a0027c0032t0027g0122others(1): Show | 4 | 262 | 0.0153 | 35 | c.106 others(54): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412913 | C | CGCCCCGC others(28): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0050 | a0050c0023 | a0050c0023t0071 | a0050c0023t0071g0014 | 1 | 262 | 0.0038 | 35 | c.106 others(54): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113413092 | C | CCGCAGAG others(28): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0009 | a0009c0011 | a0009c0011t0030 | a0009c0011t0030g0196 | 1 | 262 | 0.0038 | 35 | c.106 others(54): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADRB3_chr8_37957990_37971599 | 37959068 | G | GTCTTCCC others(28): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0014 | 1 | 362 | 0.0028 | 35 | c.*51 others(46): Show |
ADRB3 | ENSG00000188778.6 | transcript | ENST00000345060.5 | protein_coding | 3921 | chr8 | TogoVar | ||||||
ADSS1_chr14_104719229_104752310 | 104720443 | T | TCTCGTGT others(28): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02735.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106a0001c0001t0002g0018a0001c0001t0002g0131 | 3 | 402 | 0.0075 | 35 | c.-38 others(46): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 3785 | chr14 | TogoVar | ||||||
ADSS1_chr14_104719229_104752310 | 104720443 | T | TCTCGTGT others(28): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 NA18982.hp1 NA19085.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0026a0001c0001t0001g0027a0006c0009t0001g0098 | 3 | 402 | 0.0075 | 35 | c.-38 others(46): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 3785 | chr14 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114327147 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 262 | 0.0038 | 35 | c.316 others(52): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 4/18 | chr10 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114327147 | T | TTATATAT others(28): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 262 | 0.0038 | 35 | c.316 others(52): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 4/18 | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7827569 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0285 | 1 | 318 | 0.0031 | 35 | c.727 others(52): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 86969879 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0200 | 1 | 294 | 0.0034 | 35 | c.38+ others(52): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFTPH_chr2_64519328_64598005 | 64549461 | C | CTTAGGAA others(28): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 372 | 0.0027 | 35 | c.-32 others(52): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86262078 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0057 | 1 | 132 | 0.0076 | 35 | c.970 others(50): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 356 | 0.0028 | 35 | c.848 others(50): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03654.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0051a0002c0002t0002g0052 | 2 | 356 | 0.0056 | 35 | c.848 others(50): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531325 | C | CTATATAT others(28): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01515.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0045others(1): Show | 4 | 236 | 0.0170 | 35 | c.409 others(54): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531535 | C | CTATATAT others(28): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 236 | 0.0042 | 35 | c.409 others(54): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531535 | C | CTATATAT others(28): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0001a0001c0007t0001a0001c0007t0003 | a0001c0005t0001g0018a0001c0007t0001g0015a0001c0007t0001g0016others(2): Show | 5 | 236 | 0.0212 | 35 | c.409 others(54): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161126796 | C | CAAAAGCG others(28): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02040.hp1 NA18948.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0017others(2): Show | a0001c0001t0002g0222a0001c0001t0006g0230a0001c0001t0017g0036others(4): Show | 7 | 264 | 0.0265 | 35 | c.*97 others(46): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 3170 | chr6 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85689925 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 302 | 0.0033 | 35 | c.157 others(52): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148745773 | A | ATATTTTA others(28): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02109.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0124a0001c0001t0002g0235others(8): Show | 12 | 350 | 0.0343 | 35 | c.*36 others(46): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2771 | chr3 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240884487 | T | TCAACAAC others(28): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0007 | a0006c0007t0009 | a0006c0007t0009g0027 | 1 | 444 | 0.0023 | 35 | c.*56 others(46): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3988 | chr2 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0184 | 1 | 220 | 0.0046 | 35 | c.135 others(52): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHNAK2_chr14_104932253_104983374 | 104934001 | C | CGGCTGAG others(28): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0161 | a0161c0079 | a0161c0079t0012 | a0161c0079t0012g0141 | 1 | 356 | 0.0028 | 35 | c.*40 others(46): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 3251 | chr14 | TogoVar | ||||||
AHNAK2_chr14_104932253_104983374 | 104934001 | C | CGGCTGAG others(28): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 356 | 0.0028 | 35 | c.*40 others(46): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 3251 | chr14 | TogoVar | ||||||
AHNAK2_chr14_104932253_104983374 | 104934036 | C | CGGCTGAG others(28): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01168.hp2 HG02735.hp2 others(1): Show |
a0016a0059a0060 | a0016c0041a0016c0160a0059c0161others(1): Show | a0016c0041t0006a0016c0160t0006a0059c0161t0013others(1): Show | a0016c0041t0006g0036a0016c0160t0006g0044a0059c0161t0013g0128others(1): Show | 4 | 356 | 0.0112 | 35 | c.*39 others(46): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 3216 | chr14 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318048 | T | TACCTCCC others(28): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0076 | 1 | 268 | 0.0037 | 35 | c.-37 others(46): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3665 | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02809.hp1 NA19002.hp1 |
a0002a0008 | a0002c0002a0008c0013 | a0002c0002t0001a0002c0002t0007a0008c0013t0001 | a0002c0002t0001g0122a0002c0002t0007g0028a0008c0013t0001g0021 | 3 | 268 | 0.0112 | 35 | c.-10 others(52): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0203 | 1 | 268 | 0.0037 | 35 | c.-10 others(52): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01074.hp1 NA18974.hp1 NA18983.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0003c0004t0004 | a0001c0001t0002g0063a0001c0001t0003g0214a0003c0004t0004g0204 | 3 | 268 | 0.0112 | 35 | c.-10 others(52): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18966.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010 | a0002c0002t0001g0193a0002c0002t0010g0207 | 2 | 268 | 0.0075 | 35 | c.-10 others(52): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |