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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG01981.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0019 | a0002c0002t0009g0027 a0002c0002t0009g0092 a0002c0002t0009g0097 others(2): Show |
6 | 128 | 0.0469 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0051 | 1 | 123 | 0.0081 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0052 | 1 | 123 | 0.0081 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02922.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0061 a0002c0002t0006g0099 a0002c0002t0006g0100 others(1): Show |
4 | 126 | 0.0317 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0196 | 1 | 123 | 0.0081 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 123 | 0.0081 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0095 | 1 | 123 | 0.0081 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(2630): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0288 | 1 | 292 | 0.0034 | 2637 | c.340 others(2654): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2630): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0068 | a0068c0053 | a0068c0053t0002 | a0068c0053t0002g0055 | 1 | 97 | 0.0103 | 2637 | c.101 others(2656): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2630): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 284 | 0.0035 | 2637 | c.-17 others(2648): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2630): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 284 | 0.0035 | 2637 | c.-17 others(2648): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877036 | G | GGGAAGTT others(2630): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 212 | 0.0047 | 2637 | c.224 others(2656): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877117 | G | GGGAAGTT others(2630): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 247 | 0.0040 | 2637 | c.224 others(2656): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2631): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02027.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0001 a0001c0001t0001g0130 a0001c0001t0001g0138 others(2): Show |
5 | 127 | 0.0394 | 2638 | c.*31 others(2649): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2631): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 HG03516.hp1 NA18522.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0032 others(3): Show |
6 | 128 | 0.0469 | 2638 | c.*31 others(2649): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2631): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00621.hp2 others(29): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0004a0002c0002t0013a0002c0002t0030others(1): Show | a0002c0002t0004g0014 a0002c0002t0004g0024 a0002c0002t0004g0025 others(24): Show |
32 | 154 | 0.2078 | 2638 | c.*31 others(2649): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2631): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0007 | a0007c0006 | a0007c0006t0012 | a0007c0006t0012g0102 | 1 | 123 | 0.0081 | 2638 | c.*31 others(2649): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2631): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0094 | 1 | 123 | 0.0081 | 2638 | c.*31 others(2649): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212430 | A | ATTTACTC others(2631): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0004 | 1 | 140 | 0.0071 | 2638 | c.212 others(2659): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGAAAGG others(2631): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0243 | 1 | 261 | 0.0038 | 2638 | c.157 others(2653): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2631): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0004 | a0004c0018 | a0004c0018t0031 | a0004c0018t0031g0062 | 1 | 201 | 0.0050 | 2638 | c.816 others(2655): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2631): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0018 | 1 | 404 | 0.0025 | 2638 | c.-16 others(2649): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2632): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 233 | 0.0043 | 2639 | c.366 others(2656): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2632): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 123 | 0.0081 | 2639 | c.*31 others(2650): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2632): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 123 | 0.0081 | 2639 | c.*31 others(2650): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2632): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 NA19059.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0080 a0002c0002t0004g0088 |
2 | 124 | 0.0161 | 2639 | c.*31 others(2650): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2632): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0077 | 1 | 123 | 0.0081 | 2639 | c.*31 others(2650): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2632): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 4 | 0.2500 | 2639 | c.515 others(2656): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2632): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0027 | 1 | 9 | 0.1111 | 2639 | c.*39 others(2650): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2632): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0012 | a0003c0012t0042 | a0003c0012t0042g0100 | 1 | 211 | 0.0047 | 2639 | c.-22 others(2658): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZBTB44_chr11_130221677_130319917 | 130294410 | T | TCCCTCTC others(2632): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0081 | 1 | 288 | 0.0035 | 2639 | c.-57 others(2658): Show |
ZBTB44 | ENSG00000196323.14 | transcript | ENST00000357899.9 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2633): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 254 | 0.0039 | 2640 | c.-30 others(2651): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2633): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 398 | 0.0025 | 2640 | c.283 others(2657): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2633): Show |
conservative_inframe_insertion | MODERATE | NA18950.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 129 | 0.0078 | 2640 | c.381 others(2649): Show |
p.Ser others(2655): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787879 | G | GGAAGAGC others(2633): Show |
conservative_inframe_insertion | MODERATE | NA19007.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0087 | 1 | 129 | 0.0078 | 2640 | c.370 others(2649): Show |
p.Leu others(2655): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3812/16756 | 3700/16239 | 1234/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787879 | G | GGAAGAGC others(2633): Show |
conservative_inframe_insertion | MODERATE | HG00558.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0090 | 1 | 129 | 0.0078 | 2640 | c.370 others(2649): Show |
p.Leu others(2655): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3812/16756 | 3700/16239 | 1234/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787879 | G | GGAAGAGC others(2633): Show |
conservative_inframe_insertion | MODERATE | NA18982.hp2 | a0110 | a0110c0026 | a0110c0026t0001 | a0110c0026t0001g0089 | 1 | 129 | 0.0078 | 2640 | c.370 others(2649): Show |
p.Leu others(2655): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3812/16756 | 3700/16239 | 1234/5412 | chr3 | TogoVar | |||
NOC4L_chr12_132139457_132157468 | 132149578 | C | CACCACAC others(2633): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 215 | 0.0047 | 2640 | c.901 others(2655): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2633): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0097 | 1 | 9 | 0.1111 | 2640 | c.*39 others(2651): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2633): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0024 | 1 | 9 | 0.1111 | 2640 | c.*39 others(2651): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2633): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0050 | 1 | 9 | 0.1111 | 2640 | c.*39 others(2651): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2633): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0123 | 1 | 9 | 0.1111 | 2640 | c.*39 others(2651): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2633): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 9 | 0.1111 | 2640 | c.*39 others(2651): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646070 | T | TCCACCTG others(2633): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 165 | 0.0061 | 2640 | c.-35 others(2661): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158915958 | G | GTGGTTGA others(2634): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 a0001c0001t0001g0273 |
2 | 261 | 0.0077 | 2641 | c.179 others(2660): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915958 | G | GTGGTTGA others(2634): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 a0001c0001t0001g0270 |
2 | 261 | 0.0077 | 2641 | c.179 others(2660): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915958 | G | GTGGTTGA others(2634): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 260 | 0.0038 | 2641 | c.179 others(2660): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NCOA7_chr6_125785960_125937034 | 125917196 | T | TAGAATCT others(2634): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0050 | 1 | 263 | 0.0038 | 2641 | c.224 others(2660): Show |
NCOA7 | ENSG00000111912.20 | transcript | ENST00000392477.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP10_chr17_19899302_19982828 | 19964602 | T | TAACAAGG others(2635): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0106 | 1 | 274 | 0.0036 | 2642 | c.137 others(2659): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(2635): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0011 | a0001c0011t0010 | a0001c0011t0010g0178 | 1 | 55 | 0.0182 | 2642 | c.891 others(2657): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar |