| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(729): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0009a0001c0003t0002g0010a0001c0003t0002g0012 | 3 | 370 | 0.0081 | 736 | c.284 others(755): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(729): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0005 | a0002c0005t0011 | a0002c0005t0011g0359 | 1 | 420 | 0.0024 | 736 | c.107 others(753): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168726523 | G | GGAGGCAG others(729): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0006 | a0001c0006t0035 | a0001c0006t0035g0120 | 1 | 132 | 0.0076 | 736 | c.227 others(755): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| SNPH_chr20_1261294_1314327 | 1302281 | T | TTAGCAAT others(729): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 350 | 0.0029 | 736 | c.440 others(753): 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(729): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01978.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049a0001c0001t0002g0108a0001c0001t0002g0137others(1): Show | 4 | 350 | 0.0114 | 736 | c.440 others(753): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TERT_chr5_1248167_1300068 | 1273554 | C | CCACACAT others(729): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0108 | 1 | 392 | 0.0026 | 736 | c.228 others(755): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TMEM120B_chr12_121707752_121787068 | 121747531 | G | GCACTGGG others(729): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0184 | 1 | 314 | 0.0032 | 736 | c.189 others(751): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TRIM48_chr11_55257155_55276114 | 55273308 | T | TTATATAT others(729): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 272 | 0.0037 | 736 | c.*28 others(747): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2195 | chr11 | TogoVar | ||||||
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(729): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0017 | 2 | 272 | 0.0074 | 736 | c.*29 others(747): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(729): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 736 | c.*29 others(747): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238870577 | A | ACACACAC others(729): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 338 | 0.0030 | 736 | c.*35 others(755): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(729): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 338 | 0.0030 | 736 | c.246 others(755): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ULK1_chr12_131889622_131928150 | 131917167 | C | CGGGTTCG others(729): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0319 | 1 | 344 | 0.0029 | 736 | c.218 others(753): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(729): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170a0001c0001t0001g0171 | 2 | 218 | 0.0092 | 736 | c.55+ others(751): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(729): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 246 | 0.0041 | 736 | c.-10 others(753): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(729): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 246 | 0.0041 | 736 | c.-10 others(753): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| ZNF732_chr4_265675_310474 | 299350 | T | TACACATA others(729): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0258 | 1 | 326 | 0.0031 | 736 | c.4-3 others(749): Show |
ZNF732 | ENSG00000186777.13 | transcript | ENST00000419098.6 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
| ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAT others(730): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0023 | a0001c0023t0006 | a0001c0023t0006g0008 | 1 | 248 | 0.0040 | 737 | c.387 others(756): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
| ABCC6_chr16_16144565_16228494 | 16172318 | T | TGGGATGG others(730): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0028a0003c0005t0001g0029 | 2 | 357 | 0.0056 | 737 | c.278 others(754): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173269 | A | ACATCACC others(730): Show |
intron_variant | MODIFIER | NA18950.hp1 NA19085.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0012a0001c0007t0003 | a0001c0001t0012g0093a0001c0007t0003g0140 | 2 | 337 | 0.0059 | 737 | c.61+ others(752): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(730): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 242 | 0.0041 | 737 | c.927 others(754): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(730): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 242 | 0.0041 | 737 | c.927 others(754): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(730): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 242 | 0.0041 | 737 | c.927 others(754): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(730): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 242 | 0.0041 | 737 | c.927 others(754): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGGA others(730): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 242 | 0.0041 | 737 | c.927 others(754): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(730): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0056a0001c0001t0001g0155a0001c0001t0001g0159others(74): Show | 77 | 308 | 0.2500 | 737 | c.-28 others(756): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(730): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 308 | 0.0033 | 737 | c.-28 others(756): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(730): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0034a0001c0001t0001g0036a0002c0002t0002g0033 | 3 | 308 | 0.0097 | 737 | c.-28 others(756): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
| AUH_chr9_91208823_91366918 | 91296197 | C | CTTTTTTT others(730): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 358 | 0.0028 | 737 | c.599 others(752): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(730): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02080.hp1 NA18970.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 5 | 300 | 0.0167 | 737 | c.-70 others(746): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181908 | T | TCACACAC others(730): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02040.hp1 HG02155.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0390a0001c0001t0002g0021a0001c0001t0002g0393others(1): Show | 4 | 460 | 0.0087 | 737 | c.193 others(754): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(730): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG03017.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0034a0002c0003t0002g0040 | 2 | 252 | 0.0079 | 737 | c.-29 others(748): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 421230 | A | AAAACACA others(730): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 | 1 | 432 | 0.0023 | 737 | c.413 others(754): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(730): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 354 | 0.0028 | 737 | c.*69 others(748): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20357454 | G | GAGGGGAG others(730): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0174 | 1 | 236 | 0.0042 | 737 | c.351 others(756): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(730): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 168 | 0.0060 | 737 | c.-26 others(746): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(730): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 168 | 0.0060 | 737 | c.-26 others(746): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(730): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 168 | 0.0060 | 737 | c.-26 others(746): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(730): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01070.hp2 others(8): Show |
a0001 | a0001c0002a0001c0005a0001c0008 | a0001c0002t0001a0001c0005t0001a0001c0005t0004others(1): Show | a0001c0002t0001g0001a0001c0002t0001g0047a0001c0002t0001g0053others(8): Show | 11 | 168 | 0.0655 | 737 | c.-26 others(746): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(730): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0040 | 1 | 168 | 0.0060 | 737 | c.-26 others(746): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(730): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 168 | 0.0060 | 737 | c.-26 others(746): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(730): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 168 | 0.0060 | 737 | c.-26 others(746): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
| CNOT3_chr19_54132762_54160681 | 54133878 | C | CCCCTCTC others(730): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 223 | 0.0045 | 737 | c.-41 others(748): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3883 | chr19 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45431488 | A | AGGGGGGC others(730): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0155 | 1 | 292 | 0.0034 | 737 | c.106 others(756): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(730): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 94 | 0.0106 | 737 | c.-2+ others(754): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| CUX2_chr12_111029165_111355554 | 111326051 | T | TTTTGTTT others(730): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0003 | 1 | 100 | 0.0100 | 737 | c.292 others(756): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(730): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 216 | 0.0046 | 737 | c.923 others(756): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
| DISP3_chr1_11474155_11542551 | 11522750 | A | ACCCAGCC others(730): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01516.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0245a0003c0003t0001g0275 | 2 | 358 | 0.0056 | 737 | c.236 others(756): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DISP3_chr1_11474155_11542551 | 11522772 | A | ACCCAGCC others(730): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0196 | 1 | 358 | 0.0028 | 737 | c.236 others(756): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(730): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0117 | a0117c0156 | a0117c0156t0002 | a0117c0156t0002g0161 | 1 | 252 | 0.0040 | 737 | c.118 others(756): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar |