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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MALRD1_chr10_19043801_19739478 | 19238066 | T | TATAATTA others(439): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03710.hp2 homoSapiens_chm13v2.hp1 |
a0011a0032a0056 | a0011c0018a0032c0023a0056c0070 | a0011c0018t0001a0032c0023t0001a0056c0070t0001 | a0011c0018t0001g0028 a0032c0023t0001g0045 a0056c0070t0001g0149 |
3 | 152 | 0.0197 | 446 | c.299 others(467): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238066 | T | TATAATTA others(439): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03492.hp1 |
a0067a0070 | a0067c0081a0070c0080 | a0067c0081t0001a0070c0080t0001 | a0067c0081t0001g0099 a0070c0080t0001g0058 |
2 | 152 | 0.0132 | 446 | c.299 others(467): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7061827 | G | GAATATAA others(439): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 288 | 0.0035 | 446 | c.-32 others(457): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3152 | chr19 | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATATA others(439): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 191 | 0.0052 | 446 | c.343 others(463): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(439): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 390 | 0.0026 | 446 | c.112 others(463): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(439): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 390 | 0.0026 | 446 | c.112 others(463): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(439): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 a0001c0001t0002g0162 |
2 | 390 | 0.0051 | 446 | c.112 others(463): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | ATAGGCAG others(439): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 390 | 0.0026 | 446 | c.112 others(463): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(439): Show |
downstream_gene_variant | MODIFIER | NA18956.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 364 | 0.0055 | 446 | c.*18 others(457): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | ATAGGCAG others(439): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 364 | 0.0028 | 446 | c.*18 others(457): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(439): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 HG02293.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 a0001c0002t0002g0058 |
2 | 350 | 0.0057 | 446 | c.-28 others(457): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(439): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 350 | 0.0029 | 446 | c.-28 others(457): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1952717 | T | TCCTTCCT others(439): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00673.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0052 others(11): Show |
14 | 104 | 0.1346 | 446 | c.153 others(463): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1952717 | T | TCCTTCCT others(439): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0051 | 1 | 104 | 0.0096 | 446 | c.153 others(463): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | |||||||
NFATC4_chr14_24363184_24384601 | 24364746 | A | ATATATAT others(439): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01071.hp2 others(12): Show |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0007 a0003c0004t0006g0043 |
15 | 394 | 0.0381 | 446 | c.-35 others(457): Show |
NFATC4 | ENSG00000100968.14 | transcript | ENST00000250373.9 | protein_coding | 3437 | chr14 | TogoVar | |||||||
NFATC4_chr14_24363184_24384601 | 24364746 | A | ATATATAT others(439): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 394 | 0.0025 | 446 | c.-35 others(457): Show |
NFATC4 | ENSG00000100968.14 | transcript | ENST00000250373.9 | protein_coding | 3437 | chr14 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232900772 | T | TGTCACTC others(439): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0019 | a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0003t0019g0126 others(1): Show |
4 | 362 | 0.0111 | 446 | c.829 others(463): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(439): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 362 | 0.0028 | 446 | c.-75 others(465): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(439): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0182 | 1 | 362 | 0.0028 | 446 | c.-75 others(465): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571084 | T | TGTGTGTG others(439): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 424 | 0.0071 | 446 | c.*26 others(457): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1590 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571084 | T | TGTGTGTG others(439): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 424 | 0.0047 | 446 | c.*26 others(457): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1590 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTG others(439): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 424 | 0.0024 | 446 | c.*26 others(457): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(439): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 446 | c.*26 others(457): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25562188 | G | GCCCGGCC others(439): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 a0002c0002t0002g0054 |
2 | 310 | 0.0065 | 446 | c.-12 others(465): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25562200 | G | GCCCCGTC others(439): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01243.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 others(2): Show |
5 | 310 | 0.0161 | 446 | c.-12 others(465): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35836053 | G | GGGTTCAA others(439): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01891.hp2 HG02055.hp2 others(38): Show |
a0001a0003a0004others(4): Show | a0001c0007a0001c0008a0001c0010others(12): Show | a0001c0007t0007a0001c0008t0003a0001c0008t0012others(18): Show | a0001c0007t0007g0042 a0001c0008t0003g0349 a0001c0008t0003g0354 others(37): Show |
41 | 384 | 0.1068 | 446 | c.311 others(463): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 22/28 | chr19 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35836053 | G | GGGTTCAA others(439): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01943.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0236 others(4): Show |
7 | 384 | 0.0182 | 446 | c.311 others(463): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 22/28 | chr19 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35836053 | G | GGGTTCAA others(439): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0006 | a0003c0006t0010 | a0003c0006t0010g0027 | 1 | 384 | 0.0026 | 446 | c.311 others(463): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 22/28 | chr19 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35836053 | G | GGGTTCAA others(439): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01168.hp2 others(29): Show |
a0001a0003a0013others(1): Show | a0001c0005a0001c0025a0003c0015others(3): Show | a0001c0005t0002a0001c0005t0003a0001c0005t0007others(11): Show | a0001c0005t0002g0315 a0001c0005t0002g0316 a0001c0005t0003g0332 others(29): Show |
32 | 384 | 0.0833 | 446 | c.311 others(463): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 22/28 | chr19 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35836053 | G | GGGTTCAA others(439): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 384 | 0.0026 | 446 | c.311 others(463): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 22/28 | chr19 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35836053 | G | GGGTTCAA others(439): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0004a0001c0005others(43): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(78): Show | a0001c0001t0002g0200 a0001c0001t0002g0218 a0001c0001t0002g0220 others(283): Show |
299 | 384 | 0.7787 | 446 | c.311 others(463): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 22/28 | chr19 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35836053 | G | GGGTTCAA others(439): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0034 | a0034c0060 | a0034c0060t0001 | a0034c0060t0001g0186 | 1 | 384 | 0.0026 | 446 | c.311 others(463): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 22/28 | chr19 | TogoVar | |||||||
NPHS1_chr19_35820372_35857504 | 35836053 | G | GGGTTCAA others(439): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 384 | 0.0026 | 446 | c.311 others(463): Show |
NPHS1 | ENSG00000161270.20 | transcript | ENST00000378910.10 | protein_coding | 22/28 | chr19 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300868 | A | AGGAGGGG others(439): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0020 | 1 | 344 | 0.0029 | 446 | c.154 others(463): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300868 | A | AGGAGGGG others(439): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0132 | 1 | 344 | 0.0029 | 446 | c.154 others(463): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237641 | A | ATACTATA others(439): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 439 | 0.0023 | 446 | c.-17 others(457): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1644 | chr14 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950693 | A | ACACGCAC others(439): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 350 | 0.0029 | 446 | c.-27 others(457): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2546 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344665 | A | AGGGGATT others(439): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 367 | 0.0027 | 446 | c.4-1 others(459): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGA others(439): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 HG02965.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0004 | a0001c0001t0001a0001c0006t0001a0005c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0103 others(5): Show |
8 | 115 | 0.0696 | 446 | c.305 others(467): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGA others(439): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 115 | 0.0087 | 446 | c.305 others(467): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGG others(439): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 115 | 0.0087 | 446 | c.305 others(467): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571084 | T | TGTGTGTG others(439): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0117 | 1 | 408 | 0.0025 | 446 | c.-10 others(463): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571084 | T | TGTGTGTG others(439): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0119 | 1 | 408 | 0.0025 | 446 | c.-10 others(463): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571084 | T | TGTGTGTG others(439): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0121 | 1 | 408 | 0.0025 | 446 | c.-10 others(463): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(439): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0239 | 1 | 408 | 0.0025 | 446 | c.-10 others(463): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 165147 | A | AGCTCACA others(439): Show |
intron_variant | MODIFIER | NA18979.hp2 NA19066.hp2 NA19088.hp1 |
a0003 | a0003c0004a0003c0017 | a0003c0004t0016a0003c0017t0016 | a0003c0004t0016g0078 a0003c0004t0016g0133 a0003c0017t0016g0110 |
3 | 210 | 0.0143 | 446 | c.347 others(465): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39040063 | T | TTATATAT others(439): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0035 a0001c0001t0002g0030 a0001c0001t0002g0074 others(16): Show |
19 | 170 | 0.1118 | 446 | c.106 others(465): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468286 | A | AGGGGCGT others(439): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 295 | 0.0034 | 446 | c.809 others(463): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBM33_chr7_155639661_155786480 | 155673695 | T | TATACATA others(439): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0005 | a0005c0012 | a0005c0012t0008 | a0005c0012t0008g0267 | 1 | 306 | 0.0033 | 446 | c.171 others(461): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80274697 | G | GTGAGTGG others(439): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0022 | a0022c0126 | a0022c0126t0067 | a0022c0126t0067g0180 | 1 | 292 | 0.0034 | 446 | c.261 others(463): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | chr17 | TogoVar |