| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG02148.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226a0001c0001t0002g0228a0001c0001t0002g0248others(1): Show | 4 | 334 | 0.0120 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02083.hp1 HG02155.hp1 others(5): Show |
a0001a0026 | a0001c0001a0001c0053a0026c0047 | a0001c0001t0002a0001c0001t0004a0001c0053t0002others(1): Show | a0001c0001t0002g0258a0001c0001t0002g0262a0001c0001t0002g0279others(5): Show | 8 | 334 | 0.0240 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0023 | a0023c0051 | a0023c0051t0004 | a0023c0051t0004g0249 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599478 | C | CAGCCCCC others(805): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0232 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1599478 | C | CAGCCCCC others(805): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 334 | 0.0030 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132622895 | C | CGTTCGTG others(805): Show |
intron_variant | MODIFIER | HG01255.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0108 | 2 | 204 | 0.0098 | 812 | c.117 others(831): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(805): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0343 | 1 | 375 | 0.0027 | 812 | c.-22 others(823): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(805): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0039 | a0039c0087 | a0039c0087t0001 | a0039c0087t0001g0108 | 1 | 186 | 0.0054 | 812 | c.956 others(829): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
| LHFPL3_chr7_104323603_104913561 | 104824253 | A | ATATTATA others(805): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044a0001c0001t0003g0055 | 2 | 86 | 0.0233 | 812 | c.683 others(831): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(805): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0015 | 2 | 398 | 0.0050 | 812 | c.-42 others(823): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(805): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0280 | 1 | 290 | 0.0035 | 812 | c.129 others(829): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(805): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 | 1 | 250 | 0.0040 | 812 | c.225 others(829): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
| MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(805): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0029 | 1 | 170 | 0.0059 | 812 | c.166 others(831): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(805): Show |
intron_variant | MODIFIER | HG00735.hp1 NA18946.hp2 NA18951.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0071a0001c0001t0001g0074others(4): Show | 7 | 170 | 0.0412 | 812 | c.166 others(831): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45909792 | C | CCGGCCCA others(805): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0087 | 1 | 292 | 0.0034 | 812 | c.471 others(827): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDCD6_chr5_266646_319974 | 309747 | C | CCCAGTGA others(805): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 360 | 0.0028 | 812 | c.368 others(829): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PIK3C3_chr18_41950234_42092830 | 42060568 | T | TGAGACCA others(805): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0007 | 1 | 340 | 0.0029 | 812 | c.243 others(831): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 398399 | G | GCGTCACC others(805): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 216 | 0.0046 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 398439 | C | CTACCCCC others(805): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0009a0001c0005t0001g0010 | 2 | 216 | 0.0093 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 398642 | C | CTACCCCC others(805): Show |
intron_variant | MODIFIER | NA18994.hp2 NA19005.hp1 NA19067.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0128a0001c0009t0001g0129a0001c0009t0001g0130 | 3 | 216 | 0.0139 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 398642 | C | CTACCCCC others(805): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0104 | 1 | 216 | 0.0046 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 398660 | G | GCGTCACC others(805): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0036 | a0001c0036t0001 | a0001c0036t0001g0168 | 1 | 216 | 0.0046 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 492359 | G | GCCCTCCC others(805): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 295 | 0.0034 | 812 | c.126 others(831): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136803011 | T | TGGGGGCC others(805): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 330 | 0.0030 | 812 | c.-51 others(823): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4936 | chr9 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114044198 | G | GCCCCCCC others(805): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 67 | 0.0149 | 812 | c.278 others(829): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | ||||||
| RBM43_chr2_151242940_151266863 | 151252893 | T | TGATACAC others(805): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0107 | 1 | 420 | 0.0024 | 812 | c.215 others(825): Show |
RBM43 | ENSG00000184898.7 | transcript | ENST00000331426.6 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 242795 | C | CTACCTTC others(805): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0004 | 1 | 133 | 0.0075 | 812 | c.613 others(829): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 273516 | T | TGACGTCA others(805): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 133 | 0.0075 | 812 | c.438 others(829): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(805): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0023 | 1 | 314 | 0.0032 | 812 | c.916 others(829): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(805): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 324 | 0.0031 | 812 | c.115 others(829): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 370 | 0.0027 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18954.hp1 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253a0001c0001t0001g0254a0001c0001t0001g0258others(1): Show | 4 | 370 | 0.0108 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266a0001c0001t0001g0269 | 2 | 370 | 0.0054 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01123.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0206others(15): Show | 18 | 370 | 0.0487 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 370 | 0.0027 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 370 | 0.0027 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 370 | 0.0027 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 370 | 0.0027 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 370 | 0.0027 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01167.hp1 others(32): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0001a0001c0001t0004a0009c0014t0004 | a0001c0001t0001g0193a0001c0001t0001g0197a0001c0001t0001g0199others(32): Show | 35 | 370 | 0.0946 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 370 | 0.0027 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 370 | 0.0027 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
| TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(805): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 388 | 0.0026 | 812 | c.*22 others(823): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | ||||||
| TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(805): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0100 | 1 | 314 | 0.0032 | 812 | c.189 others(829): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(805): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 | 1 | 314 | 0.0032 | 812 | c.189 others(829): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(805): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0075 | a0001c0001t0011g0002a0001c0001t0075g0181 | 2 | 314 | 0.0064 | 812 | c.189 others(829): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(805): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 128 | 0.0078 | 812 | c.143 others(833): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TOLLIP_chr11_1269371_1314632 | 1287745 | G | GCCTCCCC others(805): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0216 | 1 | 348 | 0.0029 | 812 | c.519 others(827): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar |