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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERFL_chr19_41902704_41933449 | 41928401 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01978.hp1 | a0000 | a0000c0003 | a0000c0003t0015 | a0000c0003t0015g0283 | 1 | 330 | 0.0030 | 0 | c.-37 others(4): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172834401 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01261.hp2 HG01884.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0028a0001c0001t0029others(1): Show | a0001c0001t0027g0091a0001c0001t0028g0088a0001c0001t0029g0131others(1): Show | 4 | 334 | 0.0120 | 0 | c.-13 others(3): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38498386 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(302): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(301): Show | 305 | 360 | 0.8472 | 0 | c.-6C others(2): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/10 | chr21 | TogoVar | ||||||
ERH_chr14_69375128_69403299 | 69398298 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 398 | 0.0025 | 0 | c.-65 others(3): Show |
ERH | ENSG00000100632.11 | transcript | ENST00000557016.6 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44355222 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0340 | 1 | 340 | 0.0029 | 0 | c.-19 others(4): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
ERICH6B_chr13_45536294_45620739 | 45597050 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19003.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0128 | 1 | 326 | 0.0031 | 0 | c.-45 others(3): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 3/15 | chr13 | TogoVar | ||||||
ERLEC1_chr2_53782044_53823796 | 53787114 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0227a0001c0001t0004g0228 | 2 | 374 | 0.0054 | 0 | c.-97 others(3): Show |
ERLEC1 | ENSG00000068912.15 | transcript | ENST00000185150.9 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
ERMP1_chr9_5779572_5838117 | 5833088 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0276 | 1 | 378 | 0.0027 | 0 | c.-61 others(3): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 1/15 | chr9 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64130100 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02451.hp2 HG02486.hp1 |
a0004 | a0004c0012 | a0004c0012t0037a0004c0012t0038 | a0004c0012t0037g0229a0004c0012t0038g0230 | 2 | 234 | 0.0086 | 0 | c.-71 others(3): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8026299 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02258.hp1 HG02630.hp1 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0030 | 3 | 402 | 0.0075 | 0 | c.-21 others(4): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 64993234 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02630.hp2 HG02723.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0051a0001c0005t0007g0124a0001c0005t0007g0125others(1): Show | 5 | 458 | 0.0109 | 0 | c.-20 others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 64993256 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(203): Show |
a0001a0002a0003others(7): Show | a0001c0011a0002c0002a0002c0006others(9): Show | a0001c0011t0011a0002c0002t0001a0002c0002t0006others(13): Show | a0001c0011t0011g0043a0002c0002t0001g0002a0002c0002t0001g0011others(55): Show | 206 | 458 | 0.4498 | 0 | c.-23 others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 64993257 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00438.hp2 HG00544.hp1 HG00673.hp1 others(30): Show |
a0004 | a0004c0004 | a0004c0004t0003a0004c0004t0018 | a0004c0004t0003g0005a0004c0004t0003g0010a0004c0004t0003g0055others(5): Show | 33 | 458 | 0.0721 | 0 | c.-23 others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
ERVH48-1_chr21_42911803_42930630 | 42925417 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00597.hp2 HG00621.hp1 HG00639.hp2 others(49): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0003a0001c0001t0012a0001c0001t0018others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0041a0001c0001t0012g0019others(8): Show | 52 | 420 | 0.1238 | 0 | c.-35 others(4): Show |
ERVH48-1 | ENSG00000233056.4 | transcript | ENST00000447535.2 | protein_coding | 1/2 | chr21 | TogoVar | ||||||
ERVH48-1_chr21_42911803_42930630 | 42925475 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0092 | 1 | 420 | 0.0024 | 0 | c.-41 others(4): Show |
ERVH48-1 | ENSG00000233056.4 | transcript | ENST00000447535.2 | protein_coding | 1/2 | chr21 | TogoVar | ||||||
ERVK3-1_chr19_58300377_58321812 | 58306212 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01516.hp1 HG01517.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0004a0001c0001t0012g0035 | 3 | 424 | 0.0071 | 0 | c.-8A others(2): Show |
ERVK3-1 | ENSG00000142396.11 | transcript | ENST00000413518.6 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ERVMER34-1_chr4_52737553_52756425 | 52745559 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0029 | 1 | 392 | 0.0026 | 0 | c.-39 others(3): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 3/3 | chr4 | TogoVar | ||||||
ERVV-1_chr19_53008921_53021123 | 53013932 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 HG02630.hp2 HG02717.hp1 others(8): Show |
a0002a0005 | a0002c0005a0005c0011 | a0002c0005t0003a0005c0011t0003 | a0002c0005t0003g0000a0005c0011t0003g0000 | 11 | 404 | 0.0272 | 0 | c.-15 others(4): Show |
ERVV-1 | ENSG00000269526.2 | transcript | ENST00000602168.2 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
ERVV-1_chr19_53008921_53021123 | 53014059 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0000 | 1 | 404 | 0.0025 | 0 | c.-32 others(3): Show |
ERVV-1 | ENSG00000269526.2 | transcript | ENST00000602168.2 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
ERVV-1_chr19_53008921_53021123 | 53014065 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 HG02630.hp2 HG02717.hp1 others(8): Show |
a0002a0005 | a0002c0005a0005c0011 | a0002c0005t0003a0005c0011t0003 | a0002c0005t0003g0000a0005c0011t0003g0000 | 11 | 404 | 0.0272 | 0 | c.-26 others(3): Show |
ERVV-1 | ENSG00000269526.2 | transcript | ENST00000602168.2 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
ERVV-2_chr19_53039740_53056680 | 53044766 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp1 HG01891.hp1 HG02280.hp1 others(13): Show |
a0002 | a0002c0003 | a0002c0003t0008a0002c0003t0022 | a0002c0003t0008g0009a0002c0003t0008g0011a0002c0003t0008g0050others(1): Show | 16 | 446 | 0.0359 | 0 | c.-57 others(4): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
ERVV-2_chr19_53039740_53056680 | 53048892 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00280.hp1 HG00735.hp2 others(35): Show |
a0002a0005 | a0002c0003a0005c0012 | a0002c0003t0004a0002c0003t0011a0002c0003t0023others(3): Show | a0002c0003t0004g0004a0002c0003t0004g0014a0002c0003t0004g0019others(7): Show | 38 | 446 | 0.0852 | 0 | c.-36 others(4): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
ERVV-2_chr19_53039740_53056680 | 53048977 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0047 | a0001c0002t0047g0054 | 1 | 446 | 0.0022 | 0 | c.-27 others(4): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
ERVV-2_chr19_53039740_53056680 | 53049220 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00280.hp1 HG00735.hp2 others(46): Show |
a0002a0005a0008 | a0002c0003a0002c0010a0005c0012others(1): Show | a0002c0003t0004a0002c0003t0010a0002c0003t0011others(8): Show | a0002c0003t0004g0004a0002c0003t0004g0014a0002c0003t0004g0019others(14): Show | 49 | 446 | 0.1099 | 0 | c.-32 others(3): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
ERVW-1_chr7_92463380_92482946 | 92477673 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19030.hp2 | a0002 | a0002c0014 | a0002c0014t0012 | a0002c0014t0012g0066 | 1 | 422 | 0.0024 | 0 | c.-51 others(4): Show |
ERVW-1 | ENSG00000242950.7 | transcript | ENST00000603053.2 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
ERVW-1_chr7_92463380_92482946 | 92477845 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp1 | a0012 | a0012c0011 | a0012c0011t0014 | a0012c0011t0014g0068 | 1 | 422 | 0.0024 | 0 | c.-69 others(4): Show |
ERVW-1 | ENSG00000242950.7 | transcript | ENST00000603053.2 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
ESAM_chr11_124748126_124767290 | 124762254 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0110 | 1 | 430 | 0.0023 | 0 | c.-10 others(4): Show |
ESAM | ENSG00000149564.12 | transcript | ENST00000278927.10 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21574851 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0203 | 1 | 310 | 0.0032 | 0 | c.-8A others(2): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151807743 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0018a0001c0002t0034a0001c0002t0035others(3): Show | a0001c0002t0018g0014a0001c0002t0034g0016a0001c0002t0035g0012others(3): Show | 6 | 250 | 0.0240 | 0 | c.-17 others(4): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
ESYT1_chr12_56123267_56149674 | 56128293 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19068.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038a0001c0001t0005g0109 | 2 | 370 | 0.0054 | 0 | c.-27 others(3): Show |
ESYT1 | ENSG00000139641.13 | transcript | ENST00000394048.10 | protein_coding | 1/31 | chr12 | TogoVar | ||||||
ETDA_chrX_135247061_135258583 | 135252737 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01069.hp1 HG01070.hp2 HG01081.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0005a0001c0001t0002g0008a0001c0001t0002g0012others(4): Show | 11 | 335 | 0.0328 | 0 | c.-11 others(4): Show |
ETDA | ENSG00000238210.4 | transcript | ENST00000427686.3 | protein_coding | 2/3 | chrX | TogoVar | ||||||
ETNK1_chr12_22620171_22695665 | 22625223 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03834.hp2 | a0003 | a0003c0006 | a0003c0006t0058 | a0003c0006t0058g0114 | 1 | 318 | 0.0031 | 0 | c.-20 others(4): Show |
ETNK1 | ENSG00000139163.16 | transcript | ENST00000266517.9 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
ETNK2_chr1_204126062_204157044 | 204152029 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp2 HG01243.hp1 HG01261.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0008a0001c0001t0002g0019a0001c0001t0002g0050others(16): Show | 26 | 422 | 0.0616 | 0 | c.-17 others(4): Show |
ETNK2 | ENSG00000143845.15 | transcript | ENST00000367202.9 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
ETV3L_chr1_157087043_157104808 | 157099805 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp1 HG02572.hp1 HG02622.hp2 others(3): Show |
a0001a0004 | a0001c0006a0004c0011a0004c0013 | a0001c0006t0013a0004c0011t0008a0004c0011t0015others(1): Show | a0001c0006t0013g0237a0004c0011t0008g0239a0004c0011t0008g0240others(3): Show | 6 | 464 | 0.0129 | 0 | c.-28 others(4): Show |
ETV3L | ENSG00000253831.3 | transcript | ENST00000454449.3 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
ETV3_chr1_157116191_157143395 | 157138366 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0152 | 1 | 404 | 0.0025 | 0 | c.-64 others(3): Show |
ETV3 | ENSG00000117036.12 | transcript | ENST00000368192.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11649787 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0135 | a0001c0001t0135g0124 | 1 | 262 | 0.0038 | 0 | c.-34 others(4): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
EVPLL_chr17_18372778_18394647 | 18377807 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01069.hp2 HG01071.hp2 HG01099.hp2 others(14): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0005a0003c0005t0005 | a0001c0003t0005g0014a0001c0003t0005g0029a0001c0003t0005g0041others(5): Show | 17 | 408 | 0.0417 | 0 | c.-21 others(4): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 1/11 | chr17 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69203941 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03453.hp1 | a0001 | a0001c0008 | a0001c0008t0021 | a0001c0008t0021g0216 | 1 | 234 | 0.0043 | 0 | c.-10 others(4): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 2/10 | chr14 | TogoVar | ||||||
EXO1_chr1_241843204_241894939 | 241848232 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(34): Show | a0001c0001a0002c0002a0002c0041others(37): Show | a0001c0001t0002a0001c0001t0006a0002c0002t0001others(55): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0010others(226): Show | 291 | 416 | 0.6995 | 0 | c.-54 others(4): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
EXO5_chr1_40503767_40521038 | 40508797 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp1 HG02486.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005 | a0001c0002t0004g0014a0001c0002t0005g0014 | 4 | 406 | 0.0099 | 0 | c.-37 others(4): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
EXO5_chr1_40503767_40521038 | 40509588 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(228): Show |
a0000a0001a0002others(2): Show | a0000c0000a0001c0002a0001c0005others(5): Show | a0000c0000t0008a0001c0002t0001a0001c0002t0004others(11): Show | a0000c0000t0008g0031a0001c0002t0001g0001a0001c0002t0001g0006others(30): Show | 231 | 406 | 0.5690 | 0 | c.-12 others(4): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 693125 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp1 NA19043.hp1 |
a0001 | a0001c0008 | a0001c0008t0013 | a0001c0008t0013g0270a0001c0008t0013g0271 | 2 | 272 | 0.0074 | 0 | c.-15 others(4): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/28 | chr6 | TogoVar | ||||||
EXOC3L1_chr16_67179379_67195136 | 67190039 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0013 | 2 | 314 | 0.0064 | 0 | c.-76 others(3): Show |
EXOC3L1 | ENSG00000179044.16 | transcript | ENST00000314586.11 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
EXOC3L1_chr16_67179379_67195136 | 67190052 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03540.hp2 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0020 | 1 | 314 | 0.0032 | 0 | c.-89 others(3): Show |
EXOC3L1 | ENSG00000179044.16 | transcript | ENST00000314586.11 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
EXOSC3_chr9_37774714_37790064 | 37785056 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp1 HG02723.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0006 | a0001c0002t0005g0017a0001c0002t0006g0026a0001c0002t0006g0027 | 5 | 432 | 0.0116 | 0 | c.-12 others(3): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118111312 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01074.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0017a0001c0001t0033a0001c0001t0034others(8): Show | a0001c0001t0017g0187a0001c0001t0033g0015a0001c0001t0034g0016others(9): Show | 12 | 190 | 0.0632 | 0 | c.-26 others(4): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118111370 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0017 | 1 | 190 | 0.0053 | 0 | c.-32 others(4): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118111691 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0180 | 1 | 190 | 0.0053 | 0 | c.-64 others(4): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118111820 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01074.hp1 HG02723.hp2 HG02886.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0017a0001c0001t0068a0001c0001t0069others(5): Show | a0001c0001t0017g0187a0001c0001t0068g0189a0001c0001t0069g0182others(6): Show | 9 | 190 | 0.0474 | 0 | c.-77 others(4): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44095822 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0128 | 1 | 334 | 0.0030 | 0 | c.-61 others(3): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 1/14 | chr11 | TogoVar |