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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(3603): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 373 | 0.0027 | 3610 | c.115 others(3627): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414462 | G | GGAAGGCA others(3603): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0320 | 1 | 373 | 0.0027 | 3610 | c.115 others(3627): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3604): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0052 | a0052c0096 | a0052c0096t0007 | a0052c0096t0007g0229 | 1 | 292 | 0.0034 | 3611 | c.218 others(3626): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(3604): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0276 | 1 | 295 | 0.0034 | 3611 | c.126 others(3630): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3605): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 236 | 0.0042 | 3612 | c.294 others(3629): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3605): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0079 | 1 | 250 | 0.0040 | 3612 | c.-21 others(3629): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BLOC1S2_chr10_100268293_100291680 | 100289910 | G | GAAAACAT others(3606): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 378 | 0.0027 | 3613 | c.-32 others(3624): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 3231 | chr10 | TogoVar | ||||||
FAM111A_chr11_59137856_59160039 | 59140967 | T | TACAGATC others(3606): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 442 | 0.0023 | 3613 | c.-25 others(3624): Show |
FAM111A | ENSG00000166801.17 | transcript | ENST00000675163.1 | protein_coding | 1888 | chr11 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(3606): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02145.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0024 | a0001c0002t0001g0031a0001c0002t0001g0041a0001c0002t0001g0042others(4): Show | 7 | 289 | 0.0242 | 3613 | c.269 others(3632): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(3606): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 289 | 0.0035 | 3613 | c.269 others(3632): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKD2L1_chr10_100283149_100335228 | 100289910 | G | GAAAACAT others(3606): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0292 | 1 | 306 | 0.0033 | 3613 | c.225 others(3630): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 14/15 | chr10 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3607): Show |
intron_variant | MODIFIER | HG02074.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0102 | 2 | 175 | 0.0114 | 3614 | c.164 others(3633): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3607): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0004 | a0004c0090 | a0004c0090t0001 | a0004c0090t0001g0097 | 1 | 186 | 0.0054 | 3614 | c.723 others(3631): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGGAA others(3608): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 308 | 0.0033 | 3615 | c.157 others(3632): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BLOC1S2_chr10_100268293_100291680 | 100289910 | G | GAAAACAT others(3609): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 378 | 0.0027 | 3616 | c.-32 others(3627): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 3231 | chr10 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3609): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 370 | 0.0027 | 3616 | c.891 others(3631): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3609): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 186 | 0.0054 | 3616 | c.723 others(3633): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100289910 | G | GAAAACAT others(3609): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0010 | 1 | 306 | 0.0033 | 3616 | c.225 others(3633): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 14/15 | chr10 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3609): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 158 | 0.0063 | 3616 | c.284 others(3635): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294546 | T | TCAGCCAC others(3609): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 404 | 0.0025 | 3616 | c.340 others(3633): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3609): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0155 | 1 | 330 | 0.0030 | 3616 | c.227 others(3633): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(3610): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 3617 | c.*35 others(3628): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | ||||||
ALKBH1_chr14_77667404_77713023 | 77685623 | C | CAAAAAAT others(3611): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 360 | 0.0028 | 3618 | c.456 others(3635): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3611): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 323 | 0.0031 | 3618 | c.-21 others(3629): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302029 | A | ATTTCTAA others(3611): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 350 | 0.0029 | 3618 | c.440 others(3635): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(3611): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 350 | 0.0029 | 3618 | c.440 others(3635): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3612): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0155 | 1 | 170 | 0.0059 | 3619 | c.642 others(3636): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3612): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 323 | 0.0031 | 3619 | c.-21 others(3630): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
NT5M_chr17_17298373_17352663 | 17300347 | T | TAAGACTT others(3613): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 348 | 0.0029 | 3620 | c.-32 others(3631): Show |
NT5M | ENSG00000205309.14 | transcript | ENST00000389022.9 | protein_coding | 3025 | chr17 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713593 | T | TCTGTGTG others(3614): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 344 | 0.0029 | 3621 | c.127 others(3638): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236713806 | T | TGTATACA others(3614): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 344 | 0.0029 | 3621 | c.127 others(3638): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647405 | T | TCCTCCTC others(3614): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0078 | 1 | 276 | 0.0036 | 3621 | c.*52 others(3632): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2061 | chr15 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322654 | A | AATGTATA others(3614): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 323 | 0.0031 | 3621 | c.-24 others(3632): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2315 | chr21 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714957 | T | TAACCACT others(3615): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02976.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0002 | a0001c0001t0004g0200a0001c0001t0005g0181a0001c0002t0002g0179 | 3 | 344 | 0.0087 | 3622 | c.127 others(3639): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CIT_chr12_119680791_119882320 | 119829242 | G | GCAGGAGA others(3615): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0155 | 1 | 236 | 0.0042 | 3622 | c.753 others(3639): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502044 | C | CCCCCCAC others(3615): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0044 | a0044c0026 | a0044c0026t0001 | a0044c0026t0001g0031 | 1 | 292 | 0.0034 | 3622 | c.218 others(3639): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NT5M_chr17_17298373_17352663 | 17300347 | T | TAAGACTT others(3615): Show |
upstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0245 | 1 | 348 | 0.0029 | 3622 | c.-32 others(3633): Show |
NT5M | ENSG00000205309.14 | transcript | ENST00000389022.9 | protein_coding | 3025 | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3615): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0084 | 1 | 250 | 0.0040 | 3622 | c.-21 others(3639): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3615): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01361.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0027a0002c0002t0004g0148 | 3 | 330 | 0.0091 | 3622 | c.227 others(3639): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(3616): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 188 | 0.0053 | 3623 | c.147 others(3640): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947513 | G | GTGGTGGT others(3617): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0045 | a0002c0045t0002 | a0002c0045t0002g0029 | 1 | 136 | 0.0074 | 3624 | c.47- others(3641): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130646382 | A | ACCACCTC others(3617): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0015 | a0015c0047 | a0015c0047t0001 | a0015c0047t0001g0013 | 1 | 180 | 0.0056 | 3624 | c.-35 others(3645): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3617): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 167 | 0.0060 | 3624 | c.*53 others(3635): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3617): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0138 | 1 | 330 | 0.0030 | 3624 | c.227 others(3641): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716477 | T | TTGGTGTC others(3618): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0116 | 1 | 170 | 0.0059 | 3625 | c.86- others(3638): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721355 | C | CAGACTTC others(3618): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0152 | 1 | 170 | 0.0059 | 3625 | c.642 others(3642): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | chr9 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23043127 | A | AGAGGTGC others(3618): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0147 | 1 | 351 | 0.0029 | 3625 | c.-35 others(3636): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3559 | chr15 | TogoVar | ||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(3618): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0134 | 1 | 330 | 0.0030 | 3625 | c.227 others(3642): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANO2_chr12_5557655_5950259 | 5932365 | A | AAAGGAAA others(3619): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 162 | 0.0062 | 3626 | c.23- others(3641): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953951 | C | CCACTCCA others(3619): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 294 | 0.0034 | 3626 | c.503 others(3641): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar |