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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(884): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 72 | 0.0139 | 891 | c.273 others(908): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1626799 | G | GGGTGGAT others(884): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0159 | 1 | 220 | 0.0045 | 891 | c.375 others(906): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(884): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 223 | 0.0045 | 891 | c.*36 others(902): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914127 | C | CCCCGAGG others(884): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0228 | 1 | 121 | 0.0083 | 891 | c.212 others(908): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914424 | C | CCCCGAGG others(884): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0030 | a0030c0056 | a0030c0056t0001 | a0030c0056t0001g0163 | 1 | 141 | 0.0071 | 891 | c.212 others(910): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20357772 | C | CTGAGGGG others(884): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 225 | 0.0044 | 891 | c.351 others(910): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(884): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0151 | 1 | 2 | 0.5000 | 891 | c.162 others(912): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(884): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0007a0001c0003t0032a0001c0010t0001 | a0001c0003t0007g0005 a0001c0003t0032g0006 a0001c0010t0001g0003 others(1): Show |
4 | 16 | 0.2500 | 891 | c.109 others(910): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(884): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02602.hp1 HG03491.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 |
9 | 212 | 0.0425 | 891 | c.-38 others(902): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | |||||||
CTU2_chr16_88701503_88720396 | 88713126 | T | TGAGAGCC others(884): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 392 | 0.0026 | 891 | c.738 others(906): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(884): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 NA18960.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 a0001c0002t0002g0068 |
2 | 58 | 0.0345 | 891 | c.*31 others(902): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150250925 | T | TCCCTCAC others(884): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0080 | 1 | 112 | 0.0089 | 891 | c.207 others(910): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(884): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0039 | a0001c0001t0022g0043 a0001c0001t0039g0056 |
2 | 3 | 0.6667 | 891 | c.159 others(912): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(884): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0069 | 1 | 2 | 0.5000 | 891 | c.159 others(912): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(884): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0014 | a0001c0001t0004g0016 a0001c0002t0014g0064 |
2 | 3 | 0.6667 | 891 | c.159 others(912): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(884): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02258.hp1 HG02559.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0008a0001c0002t0007a0001c0002t0008others(9): Show | a0001c0001t0008g0045 a0001c0002t0007g0022 a0001c0002t0008g0037 others(9): Show |
12 | 13 | 0.9231 | 891 | c.159 others(912): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(884): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0072 | 1 | 2 | 0.5000 | 891 | c.159 others(912): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(884): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 2 | 0.5000 | 891 | c.159 others(912): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(884): Show |
intron_variant | MODIFIER | HG01169.hp1 HG04204.hp2 NA18941.hp1 others(1): Show |
a0001a0021 | a0001c0002a0021c0042 | a0001c0002t0001a0021c0042t0001 | a0001c0002t0001g0092 a0001c0002t0001g0112 a0001c0002t0001g0121 others(1): Show |
4 | 77 | 0.0519 | 891 | c.282 others(910): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(884): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0123 | 1 | 141 | 0.0071 | 891 | c.282 others(910): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(884): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0018 | 1 | 6 | 0.1667 | 891 | c.-17 others(910): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(884): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 6 | 0.1667 | 891 | c.-17 others(910): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241387 | A | AACACACA others(884): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0021 | a0001c0021t0004 | a0001c0021t0004g0155 | 1 | 105 | 0.0095 | 891 | c.107 others(910): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399403 | C | CCACCACC others(884): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 294 | 0.0034 | 891 | c.-25 others(908): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152787 | A | ACCTCCTC others(884): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0189 a0001c0003t0002g0102 |
2 | 254 | 0.0079 | 891 | c.804 others(908): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154354423 | C | CACCACCT others(884): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 249 | 0.0040 | 891 | c.-62 others(908): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103869 | G | GGGGGTAG others(884): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0031 | a0006c0031t0001 | a0006c0031t0001g0057 | 1 | 253 | 0.0040 | 891 | c.623 others(908): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(884): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0023 | 1 | 124 | 0.0081 | 891 | c.*65 others(902): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(884): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0175 | 1 | 124 | 0.0081 | 891 | c.*65 others(902): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997332 | A | ATGGGGGG others(884): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0246 | 1 | 357 | 0.0028 | 891 | c.-21 others(902): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 338 | chr6 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(884): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0041a0001c0002t0002others(3): Show | a0001c0001t0003g0047 a0001c0001t0041g0064 a0001c0002t0002g0100 others(3): Show |
6 | 21 | 0.2857 | 891 | c.56- others(908): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(884): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 217 | 0.0046 | 891 | c.193 others(910): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(884): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 185 | 0.0054 | 891 | c.153 others(910): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876950 | G | GGTTAGGG others(884): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0019 | a0019c0034 | a0019c0034t0033 | a0019c0034t0033g0270 | 1 | 260 | 0.0038 | 891 | c.224 others(910): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877036 | G | GGGAAGTT others(884): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 212 | 0.0047 | 891 | c.224 others(910): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(884): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 8 | 0.1250 | 891 | c.250 others(906): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2086109 | T | TGTGATCT others(884): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0093 | a0002c0093t0001 | a0002c0093t0001g0232 | 1 | 255 | 0.0039 | 891 | c.164 others(908): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2219901 | T | TCAAGTGC others(884): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03471.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0001a0001c0012t0013 | a0001c0002t0001g0089 a0001c0012t0013g0005 |
2 | 98 | 0.0204 | 891 | c.-42 others(912): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(884): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 4 | 0.2500 | 891 | c.279 others(906): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841610 | A | AGAGCATC others(884): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0109 | 1 | 64 | 0.0156 | 891 | c.361 others(910): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PPP2R5C_chr14_101756709_101932977 | 101918523 | C | CTCATCCC others(884): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0069 | 1 | 129 | 0.0078 | 891 | c.160 others(908): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRKX_chrX_3599340_3718649 | 3639415 | A | ATGGATGG others(884): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029 | 1 | 213 | 0.0047 | 891 | c.719 others(908): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(884): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 253 | 0.0040 | 891 | c.66+ others(906): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(884): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 267 | 0.0037 | 891 | c.66+ others(906): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(884): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 267 | 0.0037 | 891 | c.66+ others(906): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(884): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0258 a0001c0001t0010g0259 |
2 | 241 | 0.0083 | 891 | c.66+ others(906): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(884): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01256.hp1 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 others(1): Show |
4 | 243 | 0.0165 | 891 | c.66+ others(906): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(884): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG01358.hp1 others(1): Show |
a0003a0007a0009 | a0003c0003a0007c0007a0009c0008 | a0003c0003t0001a0007c0007t0001a0009c0008t0001 | a0003c0003t0001g0109 a0007c0007t0001g0146 a0009c0008t0001g0108 others(1): Show |
4 | 309 | 0.0129 | 891 | c.45- others(906): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432075 | C | CAGGGTGG others(884): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0102 | 1 | 188 | 0.0053 | 891 | c.101 others(908): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432187 | G | GTGGATAG others(884): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0251 | 1 | 337 | 0.0030 | 891 | c.101 others(908): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |