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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2118): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0149 | 1 | 418 | 0.0024 | 2125 | c.341 others(2142): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2119): Show |
intron_variant | MODIFIER | HG02735.hp2 NA20752.hp1 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0016a0004c0003t0015 | a0001c0001t0016g0069a0004c0003t0015g0010 | 2 | 104 | 0.0192 | 2126 | c.354 others(2145): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132896030 | C | CGGTGAGA others(2119): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0032 | a0032c0063 | a0032c0063t0001 | a0032c0063t0001g0213 | 1 | 246 | 0.0041 | 2126 | c.321 others(2145): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(2119): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0020 | a0020c0070 | a0020c0070t0001 | a0020c0070t0001g0209 | 1 | 256 | 0.0039 | 2126 | c.323 others(2145): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HTR3B_chr11_113899796_113954079 | 113931249 | G | GTCTAGGT others(2119): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0003 | a0003c0006 | a0003c0006t0023 | a0003c0006t0023g0206 | 1 | 418 | 0.0024 | 2126 | c.214 others(2141): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LMF1_chr16_848634_975984 | 859493 | C | CGGGACGG others(2119): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0092 | 1 | 294 | 0.0034 | 2126 | c.153 others(2145): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGGGGGGG others(2119): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 188 | 0.0053 | 2126 | c.147 others(2145): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2119): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01361.hp1 HG03927.hp1 |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0001a0001c0003t0001a0001c0014t0001 | a0001c0001t0001g0163a0001c0003t0001g0162a0001c0014t0001g0261 | 3 | 272 | 0.0110 | 2126 | c.-12 others(2147): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2119): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 2126 | c.*44 others(2137): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914203 | G | GGTGTGTG others(2119): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 420 | 0.0024 | 2126 | c.*35 others(2137): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2518 | chr9 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169829 | T | TCCCTCCC others(2119): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 115 | 0.0087 | 2126 | c.*20 others(2135): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 114 | chrX | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2120): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0035 | a0035c0057 | a0035c0057t0001 | a0035c0057t0001g0093 | 1 | 104 | 0.0096 | 2127 | c.354 others(2146): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CYB5RL_chr1_54164651_54205030 | 54185303 | T | TGAAAGAT others(2120): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 412 | 0.0024 | 2127 | c.436 others(2144): Show |
CYB5RL | ENSG00000215883.11 | transcript | ENST00000534324.6 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(2120): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 178 | 0.0056 | 2127 | c.773 others(2142): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2120): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 HG04184.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 2 | 432 | 0.0046 | 2127 | c.-20 others(2138): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2121): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 116 | 0.0086 | 2128 | c.-52 others(2149): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2121): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0004 | 1 | 116 | 0.0086 | 2128 | c.-52 others(2149): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585576 | C | CACAGCCC others(2121): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 236 | 0.0042 | 2128 | c.294 others(2145): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406286 | T | TCTTCCTC others(2121): Show |
3_prime_UTR_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0107 | 1 | 276 | 0.0036 | 2128 | c.*54 others(2137): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 547 | chr2 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2121): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 260 | 0.0039 | 2128 | c.624 others(2145): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2121): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0002 | a0003c0002t0066 | a0003c0002t0066g0111 | 1 | 234 | 0.0043 | 2128 | c.816 others(2145): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(2121): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 312 | 0.0032 | 2128 | c.306 others(2147): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(2121): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0042 | 1 | 62 | 0.0161 | 2128 | c.*13 others(2141): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2121): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0013 | a0001c0013t0013 | a0001c0013t0013g0062 | 1 | 196 | 0.0051 | 2128 | c.291 others(2147): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(2121): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0311 | 1 | 373 | 0.0027 | 2128 | c.115 others(2145): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 384908 | T | TGGGCAAG others(2122): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0174 | 1 | 184 | 0.0054 | 2129 | c.*31 others(2140): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2122): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0050 | 1 | 116 | 0.0086 | 2129 | c.-52 others(2150): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2122): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02040.hp1 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0022others(1): Show | a0001c0001t0001g0054a0001c0001t0011g0087a0001c0001t0022g0008others(1): Show | 4 | 116 | 0.0345 | 2129 | c.-52 others(2150): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43217113 | C | CTAGGCAC others(2122): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0073 | 1 | 182 | 0.0055 | 2129 | c.-31 others(2148): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HTR3B_chr11_113899796_113954079 | 113931249 | G | GTCTAGGT others(2122): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0006 | a0003c0006t0023 | a0003c0006t0023g0205 | 1 | 418 | 0.0024 | 2129 | c.214 others(2144): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2122): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 301 | 0.0033 | 2129 | c.-11 others(2140): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2122): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 301 | 0.0033 | 2129 | c.-11 others(2140): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2122): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0039 | a0001c0002t0012g0292a0001c0002t0012g0356a0001c0002t0012g0357others(1): Show | 4 | 362 | 0.0111 | 2129 | c.-56 others(2148): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
VNN1_chr6_132675849_132719055 | 132706873 | G | GAAGTTAT others(2122): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0005 | a0005c0017 | a0005c0017t0010 | a0005c0017t0010g0135 | 1 | 418 | 0.0024 | 2129 | c.341 others(2146): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2123): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0018 | a0018c0039 | a0018c0039t0014 | a0018c0039t0014g0061 | 1 | 218 | 0.0046 | 2130 | c.108 others(2147): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(2123): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0148 | 1 | 262 | 0.0038 | 2130 | c.106 others(2149): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(2123): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 262 | 0.0038 | 2130 | c.106 others(2149): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(2123): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0101 | 1 | 460 | 0.0022 | 2130 | c.193 others(2147): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFHR1_chr1_196814731_196837189 | 196817006 | C | CTTTCAAA others(2123): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0048 | 1 | 275 | 0.0036 | 2130 | c.-28 others(2141): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 2724 | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2123): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 116 | 0.0086 | 2130 | c.-52 others(2151): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958205 | T | TATAACCA others(2123): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0058 | 1 | 230 | 0.0044 | 2130 | c.724 others(2149): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128546638 | T | TGCAAATA others(2123): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0032 | 1 | 286 | 0.0035 | 2130 | c.214 others(2147): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(2123): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 366 | 0.0027 | 2130 | c.666 others(2147): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43217113 | C | CTAGGCAC others(2123): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0133 | 1 | 182 | 0.0055 | 2130 | c.-31 others(2149): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2123): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 301 | 0.0033 | 2130 | c.-11 others(2141): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2123): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 301 | 0.0033 | 2130 | c.-11 others(2141): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2123): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038a0001c0001t0003g0166 | 2 | 301 | 0.0066 | 2130 | c.-11 others(2141): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2123): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 301 | 0.0033 | 2130 | c.-11 others(2141): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2123): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0017 | a0017c0012 | a0017c0012t0002 | a0017c0012t0002g0092 | 1 | 292 | 0.0034 | 2130 | c.218 others(2145): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 978002 | A | AGGAACCG others(2123): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0017 | a0017c0029 | a0017c0029t0001 | a0017c0029t0001g0086 | 1 | 408 | 0.0025 | 2130 | c.214 others(2147): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar |