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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCCCCTC others(282): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 163 | 0.0061 | 289 | c.431 others(306): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279062 | G | GGGAGGGC others(282): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | 304 | 0.0066 | 289 | c.465 others(304): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CACACTTC others(282): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00621.hp2 others(103): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(14): Show |
106 | 148 | 0.7162 | 289 | c.79+ others(302): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CACACTTC others(282): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 43 | 0.0233 | 289 | c.79+ others(302): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515295 | C | CACACTTC others(282): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 448 | 0.0022 | 289 | c.79+ others(302): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185818 | T | TGCATAGG others(282): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0015 | a0003c0015t0011 | a0003c0015t0011g0014 | 1 | 333 | 0.0030 | 289 | c.300 others(306): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39596170 | G | GGGGGGCA others(282): Show |
intron_variant | MODIFIER | HG03704.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0048 | a0001c0001t0003g0160 a0001c0001t0048g0128 |
2 | 216 | 0.0093 | 289 | c.237 others(306): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39602018 | C | CTCCCTCC others(282): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0214 | 1 | 22 | 0.0455 | 289 | c.482 others(306): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CCDC110_chr4_185440182_185476733 | 185460992 | T | TGGTAGTC others(282): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01256.hp2 others(19): Show |
a0002 | a0002c0002a0002c0005a0002c0014 | a0002c0002t0001a0002c0005t0001a0002c0014t0001 | a0002c0002t0001g0071 a0002c0002t0001g0101 a0002c0002t0001g0111 others(15): Show |
22 | 290 | 0.0759 | 289 | c.348 others(302): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185460992 | T | TGGTAGTC others(282): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(90): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0005a0006c0012others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0014 others(83): Show |
93 | 361 | 0.2576 | 289 | c.348 others(302): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185460992 | T | TGGTAGTC others(282): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0225 | 1 | 269 | 0.0037 | 289 | c.348 others(302): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185460992 | T | TGGTAGTC others(282): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0294 | 1 | 269 | 0.0037 | 289 | c.348 others(302): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
CCDC63_chr12_110841987_110912535 | 110905917 | A | ATATATAA others(282): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 92 | 0.0109 | 289 | c.154 others(308): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882543 | G | GGGGAGAA others(282): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18522.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0029 a0002c0004t0001g0030 |
2 | 284 | 0.0070 | 289 | c.303 others(308): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 419877 | G | GTGTGTGT others(282): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0208 | 1 | 379 | 0.0026 | 289 | c.413 others(306): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCSER2_chr10_84323589_84523517 | 84501837 | A | AAAATATA others(282): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0354 | 1 | 361 | 0.0028 | 289 | c.232 others(310): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61383581 | T | TATATATC others(282): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0016 | a0002c0016t0003 | a0002c0016t0003g0042 | 1 | 72 | 0.0139 | 289 | c.169 others(310): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69204022 | T | TATATAAA others(282): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 146 | 0.0068 | 289 | c.487 others(306): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69204071 | A | ATAGAATA others(282): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 273 | 0.0037 | 289 | c.487 others(306): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69204071 | A | ATAGAATA others(282): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 273 | 0.0037 | 289 | c.487 others(306): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881980 | C | CTATATAG others(282): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 2 | 165 | 0.0121 | 289 | c.*11 others(300): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 298 | chr13 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58944666 | T | TTATATTC others(282): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02145.hp1 |
a0003a0006 | a0003c0007a0006c0008 | a0003c0007t0001a0003c0007t0005a0006c0008t0001 | a0003c0007t0001g0192 a0003c0007t0005g0193 a0006c0008t0001g0194 |
3 | 202 | 0.0149 | 289 | c.279 others(306): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887942 | A | ACCTCTCT others(282): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0012 | a0012c0025 | a0012c0025t0002 | a0012c0025t0002g0007 | 1 | 196 | 0.0051 | 289 | c.330 others(308): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320378 | T | TATATTAT others(282): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0024 | a0001c0024t0008 | a0001c0024t0008g0176 | 1 | 229 | 0.0044 | 289 | c.342 others(310): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45431488 | A | AGGGGGGC others(282): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0158 | 1 | 128 | 0.0078 | 289 | c.106 others(308): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098530 | T | TATATAGA others(282): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0202 | 1 | 235 | 0.0043 | 289 | c.181 others(308): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255826 | A | AGGGGGAA others(282): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0174 | 1 | 294 | 0.0034 | 289 | c.85- others(306): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255845 | G | GAGGGGGA others(282): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0003 | a0003c0045 | a0003c0045t0001 | a0003c0045t0001g0196 | 1 | 208 | 0.0048 | 289 | c.85- others(306): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92120589 | G | GTCCGCCC others(282): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp2 others(104): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0001g0105 a0001c0001t0003g0007 a0001c0001t0003g0010 others(101): Show |
107 | 252 | 0.4246 | 289 | c.-16 others(300): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1379 | chr14 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112763986 | A | AAAGTTTT others(282): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 78 | 0.0128 | 289 | c.197 others(310): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | |||||||
CSNK1G2_chr19_1936172_1986338 | 1967882 | G | GACCACCC others(282): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0020 | 1 | 377 | 0.0027 | 289 | c.-26 others(308): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CYP3A5_chr7_99643194_99684996 | 99675638 | T | TCTCCTCT others(282): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01099.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(20): Show |
42 | 57 | 0.7368 | 289 | c.165 others(304): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251268 | C | CACACCAC others(282): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 89 | 0.0112 | 289 | c.207 others(308): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(282): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 164 | 0.0061 | 289 | c.-42 others(300): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(282): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 164 | 0.0061 | 289 | c.-42 others(300): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(282): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 164 | 0.0061 | 289 | c.-42 others(300): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233463507 | G | GCACGCAT others(282): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01123.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0012others(1): Show | a0001c0002t0003g0024 a0001c0002t0003g0101 a0001c0002t0003g0105 others(9): Show |
12 | 265 | 0.0453 | 289 | c.318 others(306): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478321 | A | AGGGAGGG others(282): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0041 | 1 | 48 | 0.0208 | 289 | c.158 others(306): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123886700 | T | TGCAATGA others(282): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02970.hp2 |
a0020 | a0020c0077a0020c0081 | a0020c0077t0002a0020c0081t0002 | a0020c0077t0002g0163 a0020c0081t0002g0155 |
2 | 167 | 0.0120 | 289 | c.882 others(306): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 51/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21640508 | C | CTTTTTTT others(282): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18522.hp2 |
a0007a0178 | a0007c0212a0178c0033 | a0007c0212t0001a0178c0033t0001 | a0007c0212t0001g0214 a0178c0033t0001g0244 |
2 | 282 | 0.0071 | 289 | c.494 others(308): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 28/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAATATAT others(282): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0244 | 1 | 82 | 0.0122 | 289 | c.730 others(308): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DPYSL2_chr8_26509031_26663175 | 26556354 | A | ATATATAT others(282): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0016 | a0001c0016t0018 | a0001c0016t0018g0066 | 1 | 172 | 0.0058 | 289 | c.355 others(308): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49440994 | A | ATTTATAT others(282): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 202 | 0.0050 | 289 | c.-53 others(308): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47325026 | C | CCCCCCCC others(282): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 | 1 | 149 | 0.0067 | 289 | c.-24 others(306): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21180071 | T | TATATATT others(282): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 10 | 0.1000 | 289 | c.-38 others(300): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3175 | chr1 | TogoVar | |||||||
ELSPBP1_chr19_47989632_48030154 | 47993010 | C | CAAAAAAA others(282): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 2 | 386 | 0.0052 | 289 | c.-18 others(300): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1621 | chr19 | TogoVar | |||||||
ENY2_chr8_109329347_109350954 | 109337068 | T | TCATTTAA others(282): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0058 |
2 | 377 | 0.0053 | 289 | c.83+ others(302): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89435089 | T | TAAAACGC others(282): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG02896.hp1 others(2): Show |
a0002a0004a0006 | a0002c0005a0004c0007a0006c0010 | a0002c0005t0005a0002c0005t0018a0004c0007t0005others(1): Show | a0002c0005t0005g0070 a0002c0005t0018g0088 a0004c0007t0005g0005 others(2): Show |
5 | 195 | 0.0256 | 289 | c.234 others(308): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
F13B_chr1_197033741_197072260 | 197042728 | G | GAAGAATC others(282): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01358.hp1 HG01515.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0117 others(2): Show |
5 | 146 | 0.0342 | 289 | c.173 others(308): Show |
F13B | ENSG00000143278.5 | transcript | ENST00000367412.2 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
FER1L5_chr2_96637764_96709883 | 96659362 | C | CTTTCTTT others(282): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0037 | 1 | 129 | 0.0078 | 289 | c.748 others(304): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |