| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYO9A_chr15_71817291_72123150 | 72093624 | AGCCTGTA others(2186): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp2 others(84): Show |
a0001a0011a0019others(5): Show | a0001c0001a0011c0015a0019c0023others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(13): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0114others(84): Show | 87 | 308 | 0.2825 | -2193 | c.-72 others(19): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
| ZNF385D_chr3_21407218_21756210 | 21682212 | GTTTAGCT others(2186): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02630.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0001t0036a0001c0002t0026others(2): Show | a0001c0001t0013g0216a0001c0001t0036g0016a0001c0002t0026g0141others(2): Show | 5 | 256 | 0.0195 | -2193 | c.23- others(17): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
| STARD6_chr18_54319492_54362858 | 54342407 | TAAGAAAA others(2185): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01069.hp1 others(20): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004 | a0002c0003t0002g0013a0002c0003t0002g0036a0002c0003t0002g0037others(16): Show | 23 | 350 | 0.0657 | -2192 | c.141 others(17): Show |
STARD6 | ENSG00000174448.9 | transcript | ENST00000307844.4 | protein_coding | 4/7 | chr18 | TogoVar | |||||||
| TAOK1_chr17_29385363_29556903 | 29455163 | AGCCTCCC others(2185): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG01934.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0015a0001c0001t0019a0001c0001t0024others(5): Show | a0001c0001t0015g0080a0001c0001t0015g0082a0001c0001t0015g0083others(10): Show | 13 | 326 | 0.0399 | -2192 | c.132 others(17): Show |
TAOK1 | ENSG00000160551.12 | transcript | ENST00000261716.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| AKAP13_chr15_85375603_85754355 | 85513776 | CTTTTCCG others(2184): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG01070.hp1 others(68): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0004a0001c0007others(24): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(37): Show | a0001c0002t0001g0005a0001c0002t0006g0008a0001c0002t0006g0009others(68): Show | 71 | 314 | 0.2261 | -2191 | c.34- others(15): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132821920 | GTGTGTGC others(2183): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0096 | a0001c0096t0002 | a0001c0096t0002g0035 | 1 | 246 | 0.0041 | -2190 | c.711 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
| MMP16_chr8_88027011_88332483 | 88085885 | GAGTTTAG others(2183): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 186 | 0.0054 | -2190 | c.108 others(21): Show |
MMP16 | ENSG00000156103.16 | transcript | ENST00000286614.11 | protein_coding | 6/9 | chr8 | TogoVar | |||||||
| ZYG11A_chr1_52837760_52899998 | 52889964 | TGGCCTCC others(2179): Show |
T | intron_variant | MODIFIER | HG03130.hp1 HG03139.hp2 HG03453.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0010a0003c0003t0010a0003c0003t0012 | a0001c0001t0010g0003a0001c0001t0010g0256a0003c0003t0010g0081others(2): Show | 5 | 290 | 0.0172 | -2186 | c.210 others(18): Show |
ZYG11A | ENSG00000203995.11 | transcript | ENST00000371528.2 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1395817 | CTCCCTCG others(2178): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -2185 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
| FAT2_chr5_151499092_151596331 | 151501246 | TCATAATT others(2178): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01433.hp2 others(32): Show |
a0001a0002a0003others(12): Show | a0001c0010a0001c0020a0001c0047others(18): Show | a0001c0010t0001a0001c0010t0005a0001c0020t0005others(20): Show | a0001c0010t0001g0289a0001c0010t0005g0058a0001c0020t0005g0167others(32): Show | 35 | 398 | 0.0879 | -2185 | c.*21 others(11): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 2845 | chr5 | TogoVar | |||||||
| NUP205_chr7_135552917_135653753 | 135588198 | TGACGCGA others(2178): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG01978.hp1 others(10): Show |
a0002 | a0002c0006a0002c0019 | a0002c0006t0001a0002c0019t0001 | a0002c0006t0001g0008a0002c0006t0001g0011a0002c0006t0001g0012others(10): Show | 13 | 352 | 0.0369 | -2185 | c.147 others(18): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 10/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974581 | CAGGGAAA others(2177): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0132 | 1 | 150 | 0.0067 | -2184 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| CD2AP_chr6_47472789_47632263 | 47596993 | CATGTTGA others(2174): Show |
C | intron_variant | MODIFIER | HG02683.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0034 | a0001c0001t0010g0108a0001c0001t0034g0107 | 2 | 322 | 0.0062 | -2181 | c.127 others(17): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| BECN2_chr1_241952767_241964062 | 241959206 | TGGCTAAT others(2172): Show |
T | downstream_gene_variant | MODIFIER | HG02132.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 2 | 444 | 0.0045 | -2179 | c.*14 others(10): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 145 | chr1 | TogoVar | |||||||
| OR7G1_chr19_9109828_9120763 | 9112268 | GCATGCCT others(2170): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp2 others(26): Show |
a0004a0006a0009others(3): Show | a0004c0004a0006c0007a0009c0012others(3): Show | a0004c0004t0000a0006c0007t0000a0009c0012t0000others(3): Show | a0004c0004t0000g0000a0006c0007t0000g0000a0009c0012t0000g0000others(3): Show | 29 | 410 | 0.0707 | -2177 | c.*38 others(10): Show |
OR7G1 | ENSG00000161807.3 | transcript | ENST00000541538.1 | protein_coding | 2559 | chr19 | TogoVar | |||||||
| BRSK2_chr11_1384934_1467689 | 1429738 | CGGTCTGG others(2167): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0177 | 1 | 360 | 0.0028 | -2174 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CYP3A43_chr7_99823013_99871093 | 99863766 | AAAAATTA others(2166): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show |
a0002a0003a0007 | a0002c0010a0002c0011a0002c0014others(3): Show | a0002c0010t0001a0002c0011t0001a0002c0014t0001others(3): Show | a0002c0010t0001g0035a0002c0010t0001g0180a0002c0011t0001g0036others(13): Show | 28 | 326 | 0.0859 | -2173 | c.141 others(12): Show |
p.Ile others(13): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 13/13 | 1417/1512 | 473/503 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||
| DLGAP2_chr8_732628_1713476 | 1405216 | GTGTATTG others(2166): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | -2173 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SMAD9_chr13_36839831_36925238 | 36900383 | TGATTCTC others(2166): Show |
T | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 358 | 0.0028 | -2173 | c.-18 others(21): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805559 | CTCCCCCC others(2165): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0091 | 1 | 314 | 0.0032 | -2172 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1273 | chr2 | TogoVar | |||||||
| CAND1_chr12_67264358_67324953 | 67276938 | CATTCCAT others(2164): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0097 | 1 | 328 | 0.0031 | -2171 | c.69- others(15): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
| RGPD3_chr2_106398406_106473413 | 106403070 | ATTAATGA others(2163): Show |
A | exon_loss_variant others(5): Show |
HIGH | NA18980.hp1 | a0000 | a0000c0037 | a0000c0037t0035 | a0000c0037t0035g0053 | 1 | 382 | 0.0026 | -2170 | c.526 others(13): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 23/23 | chr2 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805291 | TCCCCCCT others(2159): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 314 | 0.0032 | -2166 | c.*11 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1005 | chr2 | TogoVar | |||||||
| ALDOA_chr16_30060760_30075414 | 30072078 | GGAGGCAG others(2158): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 370 | 0.0054 | -2165 | c.*18 others(11): Show |
ALDOA | ENSG00000149925.22 | transcript | ENST00000642816.3 | protein_coding | 1665 | chr16 | TogoVar | |||||||
| LOC112694756_chr16_30048151_30075414 | 30072078 | GGAGGCAG others(2158): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0122 | 2 | 332 | 0.0060 | -2165 | c.*34 others(11): Show |
LOC112694756 | ENSG00000285043.3 | transcript | ENST00000338110.11 | protein_coding | 1665 | chr16 | TogoVar | |||||||
| PPP4C_chr16_30070994_30090376 | 30072078 | GGAGGCAG others(2158): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077a0001c0001t0002g0086 | 2 | 368 | 0.0054 | -2165 | c.-40 others(11): Show |
PPP4C | ENSG00000149923.14 | transcript | ENST00000279387.12 | protein_coding | 3915 | chr16 | TogoVar | |||||||
| WDR20_chr14_102134897_102215527 | 102171220 | AATTACAG others(2157): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 264 | 0.0038 | -2164 | c.250 others(19): Show |
WDR20 | ENSG00000140153.18 | transcript | ENST00000342702.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744930 | GGGGGTCG others(2156): Show |
G | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0307 | 1 | 366 | 0.0027 | -2163 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ZNF385D_chr3_21407218_21756210 | 21682212 | GTTTAGCT others(2155): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0045a0001c0003t0003a0001c0003t0012 | a0001c0001t0045g0006a0001c0003t0003g0050a0001c0003t0012g0017 | 3 | 256 | 0.0117 | -2162 | c.23- others(17): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3685658 | CCCAGCCT others(2153): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 362 | 0.0028 | -2160 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| PRAMEF5_chr1_13249198_13268435 | 13254878 | CCCAAAGT others(2153): Show |
C | intron_variant | MODIFIER | HG01517.hp2 HG02132.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0072a0002c0002t0002g0073 | 2 | 142 | 0.0141 | -2160 | c.-23 others(16): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974625 | GGCCCAGG others(2153): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0142 | 1 | 150 | 0.0067 | -2160 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3685659 | CCAGCCTG others(2152): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 362 | 0.0028 | -2159 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1237992 | TCCCCCCC others(2151): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0062 | 1 | 106 | 0.0094 | -2158 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| PRAMEF26_chr1_13143907_13161009 | 13155217 | AAAAAAAA others(2151): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0035 | 1 | 229 | 0.0044 | -2158 | c.-15 others(13): Show |
PRAMEF26 | ENSG00000280267.7 | transcript | ENST00000624207.2 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
| FAM25A_chr10_87015294_87029730 | 87026070 | CTGTCTTG others(2150): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | -2157 | c.*13 others(11): Show |
FAM25A | ENSG00000188100.9 | transcript | ENST00000343959.5 | protein_coding | 1341 | chr10 | TogoVar | |||||||
| CCDC200_chr17_43216420_43233623 | 43231467 | CCGAGGGG others(2149): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0025 | 1 | 334 | 0.0030 | -2156 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 2845 | chr17 | TogoVar | |||||||
| DENND1B_chr1_197499748_197780480 | 197751769 | AGGAGGCG others(2149): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0268 | 1 | 280 | 0.0036 | -2156 | c.82+ others(17): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
| GRIP1_chr12_66342431_66684076 | 66398194 | CTGCCAAC others(2149): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03486.hp1 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0017a0002c0002t0007g0088a0002c0002t0007g0194 | 3 | 224 | 0.0134 | -2156 | c.198 others(19): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 16/24 | chr12 | TogoVar | |||||||
| PRAMEF25_chr1_13065774_13082884 | 13069405 | TTTTTTTT others(2149): Show |
T | splice_donor_variant others(4): Show |
HIGH | HG01070.hp2 HG02109.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0092a0002c0002t0008g0093 | 2 | 156 | 0.0128 | -2156 | c.-15 others(13): Show |
PRAMEF25 | ENSG00000229571.7 | transcript | ENST00000619661.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TRPC5_chrX_111763011_112087776 | 111943871 | GGTGGTGC others(2149): Show |
G | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 161 | 0.0062 | -2156 | c.378 others(17): Show |
TRPC5 | ENSG00000072315.4 | transcript | ENST00000262839.3 | protein_coding | 2/10 | chrX | TogoVar | |||||||
| FAM107B_chr10_14513557_14779897 | 14710482 | TGTTTAAA others(2148): Show |
T | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 272 | 0.0037 | -2155 | c.412 others(19): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38939322 | AAATATAT others(2147): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 344 | 0.0029 | -2154 | c.108 others(18): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 9/10 | chr17 | TogoVar | |||||||
| KCNC2_chr12_75035078_75214839 | 75126511 | AATTATAA others(2147): Show |
A | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 316 | 0.0032 | -2154 | c.688 others(19): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38939323 | AATATATA others(2146): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 344 | 0.0029 | -2153 | c.108 others(18): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 9/10 | chr17 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1343724 | TTTTCCCC others(2145): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0015 | a0015c0036 | a0015c0036t0001 | a0015c0036t0001g0070 | 1 | 190 | 0.0053 | -2152 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PRAMEF6_chr1_12933472_12952580 | 12944074 | AAGTCCTG others(2144): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
a0003a0018 | a0003c0003a0018c0018 | a0003c0003t0004a0018c0018t0004 | a0003c0003t0004g0008a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 6 | 90 | 0.0667 | -2151 | c.-23 others(17): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
| KCNG4_chr16_84213657_84245012 | 84241102 | GGTGCCTG others(2143): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02572.hp1 |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0007a0007c0010t0003 | a0001c0002t0007g0193a0007c0010t0003g0220 | 2 | 472 | 0.0042 | -2150 | c.-36 others(11): Show |
KCNG4 | ENSG00000168418.8 | transcript | ENST00000308251.6 | protein_coding | 1091 | chr16 | TogoVar | |||||||
| LIMA1_chr12_50170788_50288520 | 50172807 | TGGCCTCC others(2143): Show |
T | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148a0001c0001t0004g0149 | 2 | 294 | 0.0068 | -2150 | c.*21 others(11): Show |
LIMA1 | ENSG00000050405.14 | transcript | ENST00000341247.9 | protein_coding | 2980 | chr12 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4652883 | TAAGAATC others(2142): Show |
T | intron_variant | MODIFIER | HG03540.hp2 NA18522.hp2 |
a0002a0009 | a0002c0072a0009c0113 | a0002c0072t0003a0009c0113t0011 | a0002c0072t0003g0066a0009c0113t0011g0043 | 2 | 126 | 0.0159 | -2149 | c.86- others(17): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar |