view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZC3HAV1_chr7_139038515_139114720 | 139101478 | G | GCCTTTGC others(373): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0015 | a0015c0019 | a0015c0019t0054 | a0015c0019t0054g0261 | 1 | 189 | 0.0053 | 380 | c.308 others(397): Show |
ZC3HAV1 | ENSG00000105939.14 | transcript | ENST00000242351.10 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
ZC3HAV1_chr7_139038515_139114720 | 139101478 | G | GCCTTTGC others(373): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(107): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0008a0001c0017others(16): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0019others(46): Show | a0001c0002t0002g0132 a0001c0002t0002g0290 a0001c0002t0002g0291 others(107): Show |
110 | 298 | 0.3691 | 380 | c.308 others(397): Show |
ZC3HAV1 | ENSG00000105939.14 | transcript | ENST00000242351.10 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
ZC3HAV1_chr7_139038515_139114720 | 139101478 | G | GCCTTTGC others(373): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0037a0006c0010t0035 | a0001c0002t0037g0018 a0006c0010t0035g0017 |
2 | 190 | 0.0105 | 380 | c.308 others(397): Show |
ZC3HAV1 | ENSG00000105939.14 | transcript | ENST00000242351.10 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
ZC3HAV1_chr7_139038515_139114720 | 139101478 | G | GCCTTTGC others(373): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0007 | a0007c0006 | a0007c0006t0003 | a0007c0006t0003g0038 | 1 | 189 | 0.0053 | 380 | c.308 others(397): Show |
ZC3HAV1 | ENSG00000105939.14 | transcript | ENST00000242351.10 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
ZNF112_chr19_44321555_44361680 | 44337386 | T | TATATATT others(373): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0062 | 1 | 408 | 0.0025 | 380 | c.125 others(395): Show |
ZNF112 | ENSG00000062370.17 | transcript | ENST00000354340.9 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(373): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 166 | 0.0060 | 380 | c.-36 others(391): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(373): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 166 | 0.0060 | 380 | c.-36 others(391): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370809 | C | CATCATAT others(373): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0069 | 1 | 173 | 0.0058 | 380 | c.-36 others(391): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3559 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATATA others(373): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 2 | 224 | 0.0089 | 380 | c.-34 others(391): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999862 | C | CCTTCCTT others(374): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0191 | 1 | 245 | 0.0041 | 381 | c.49- others(396): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064578 | A | ACTGTTAT others(374): Show |
intron_variant | MODIFIER | HG01934.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0046 | a0001c0001t0007g0327 a0001c0001t0046g0153 |
2 | 97 | 0.0206 | 381 | c.118 others(400): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064797 | T | TTATGTGA others(374): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 118 | 0.0085 | 381 | c.118 others(400): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064797 | T | TTATGTGA others(374): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18947.hp2 NA18952.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0127 a0001c0001t0004g0320 a0001c0001t0006g0161 others(2): Show |
5 | 122 | 0.0410 | 381 | c.118 others(400): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288876 | T | TCTGCTCC others(374): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 274 | 0.0036 | 381 | c.*46 others(392): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3514 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289848 | T | TCTCTGCC others(374): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 247 | 0.0040 | 381 | c.*37 others(392): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2542 | chr1 | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(374): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 123 | 0.0081 | 381 | c.-1- others(396): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(374): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 123 | 0.0081 | 381 | c.-1- others(396): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(374): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 123 | 0.0081 | 381 | c.-1- others(396): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
ADGRL3_chr4_61195326_62083335 | 61847896 | T | TTATATAT others(374): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0022 | 1 | 10 | 0.1000 | 381 | c.148 others(402): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14791218 | C | CAGCATAA others(374): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18747.hp1 NA19004.hp1 |
a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0110 a0009c0012t0002g0151 a0009c0012t0002g0152 |
3 | 314 | 0.0096 | 381 | c.173 others(398): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 15/43 | chr18 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCAC others(374): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 99 | 0.0101 | 381 | c.*67 others(392): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160654045 | T | TATAAATA others(374): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0018 | a0018c0019 | a0018c0019t0048 | a0018c0019t0048g0113 | 1 | 232 | 0.0043 | 381 | c.676 others(398): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804298 | C | CTCCTTTT others(374): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0236 | 1 | 233 | 0.0043 | 381 | c.163 others(396): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(374): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 296 | 0.0034 | 381 | c.*36 others(392): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971951 | G | GGTACTGA others(374): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02896.hp1 |
a0001a0002 | a0001c0014a0002c0005 | a0001c0014t0001a0002c0005t0007 | a0001c0014t0001g0013 a0002c0005t0007g0237 |
2 | 265 | 0.0075 | 381 | c.460 others(398): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 511665 | A | ACCTTCCG others(374): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0091 | a0001c0001t0020g0130 a0001c0001t0091g0232 |
2 | 177 | 0.0113 | 381 | c.170 others(400): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797259 | T | TCCCCCCT others(374): Show |
intron_variant | MODIFIER | NA18975.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 a0001c0001t0001g0148 |
2 | 81 | 0.0247 | 381 | c.151 others(402): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31689270 | G | GGGAAGGG others(374): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 4 | 0.2500 | 381 | c.565 others(400): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(374): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01109.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004 a0001c0004t0001g0008 |
6 | 13 | 0.4615 | 381 | c.-70 others(390): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241570766 | T | TGGGGGTG others(374): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0182 | 1 | 427 | 0.0023 | 381 | c.513 others(396): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078158 | G | GGGACTCC others(374): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 324 | 0.0031 | 381 | c.*47 others(392): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3664 | chr1 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404125 | T | TGGGGGGG others(374): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0135 | a0001c0001t0135g0108 | 1 | 184 | 0.0054 | 381 | c.*29 others(392): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1319 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1115793 | C | CGCCCACG others(374): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0177 a0001c0001t0004g0179 |
2 | 324 | 0.0062 | 381 | c.129 others(400): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CASP8_chr2_201255536_201292709 | 201284695 | G | GGGGAGAG others(374): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 220 | 0.0045 | 381 | c.803 others(395): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882498 | G | GCGGGAGA others(374): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 270 | 0.0037 | 381 | c.303 others(400): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(374): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 165 | 0.0061 | 381 | c.127 others(400): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69204071 | A | ATAGAATA others(374): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 273 | 0.0037 | 381 | c.487 others(398): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20357730 | C | CACTGTGA others(374): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 232 | 0.0043 | 381 | c.351 others(400): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFD_chr19_854664_868641 | 861083 | G | GCCCCGGG others(374): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03579.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0030 | 2 | 284 | 0.0070 | 381 | c.357 others(394): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333537 | G | GGGGGGAC others(374): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 368 | 0.0027 | 381 | c.891 others(396): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CNOT1_chr16_58514951_58634826 | 58586375 | G | GGGGAGGG others(374): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 306 | 0.0033 | 381 | c.637 others(396): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124811981 | A | AAATTTAT others(374): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02723.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0002t0001g0059 others(2): Show |
5 | 58 | 0.0862 | 381 | c.321 others(402): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647359 | A | ACCCTCCT others(374): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 140 | 0.0071 | 381 | c.*52 others(392): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(374): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0004 | a0004c0007 | a0004c0007t0021 | a0004c0007t0021g0032 | 1 | 97 | 0.0103 | 381 | c.923 others(400): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 656163 | A | ATTCTGTT others(374): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0019 | a0001c0019t0006 | a0001c0019t0006g0009 | 1 | 70 | 0.0143 | 381 | c.85+ others(398): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 656163 | A | ATTCTGTT others(374): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG01258.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(15): Show |
18 | 87 | 0.2069 | 381 | c.85+ others(398): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400619 | A | ACCATCAC others(374): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0107 | a0002c0107t0001 | a0002c0107t0001g0073 | 1 | 216 | 0.0046 | 381 | c.323 others(400): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAT others(374): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0127 |
3 | 236 | 0.0127 | 381 | c.215 others(398): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70408035 | A | ACCCCCCC others(374): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0128 | 1 | 405 | 0.0025 | 381 | c.145 others(398): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ELANE_chr19_847303_861243 | 861083 | G | GCCCCGGG others(374): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG03540.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 400 | 0.0075 | 381 | c.*49 others(392): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 4841 | chr19 | TogoVar |