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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(654): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 183 | 0.0055 | 661 | c.-42 others(672): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89137483 | A | AGATTGAG others(655): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0017 | a0005c0017t0033 | a0005c0017t0033g0347 | 1 | 354 | 0.0028 | 662 | c.136 others(681): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(655): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 225 | 0.0089 | 662 | c.-10 others(673): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(655): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0038 | a0001c0038t0008 | a0001c0038t0008g0192 | 1 | 25 | 0.0400 | 662 | c.259 others(683): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1464441 | T | TGAGCCGG others(655): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0060 | a0001c0003t0060g0104 | 1 | 78 | 0.0128 | 662 | c.101 others(681): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(655): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 137 | 0.0073 | 662 | c.248 others(677): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400203 | C | CCTCGCCC others(655): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0191 | 1 | 210 | 0.0048 | 662 | c.273 others(679): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804252 | C | CCCCTCCT others(655): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0192 | 1 | 242 | 0.0041 | 662 | c.163 others(677): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(655): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 4 | 0.2500 | 662 | c.712 others(679): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420939 | C | CACACATA others(655): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 402 | 0.0025 | 662 | c.413 others(679): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 421235 | C | CACATAGC others(655): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01943.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0132 a0001c0001t0001g0211 a0001c0001t0001g0212 others(6): Show |
9 | 389 | 0.0231 | 662 | c.413 others(679): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 421827 | C | CACATAGC others(655): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 397 | 0.0025 | 662 | c.413 others(679): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(655): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 85 | 0.0118 | 662 | c.110 others(679): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(655): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0159 | 1 | 85 | 0.0118 | 662 | c.110 others(679): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CHPT1_chr12_101692640_101734074 | 101704514 | G | GCCTCAGC others(655): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 2 | 365 | 0.0055 | 662 | c.273 others(679): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(655): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 2 | 0.5000 | 662 | c.156 others(677): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(655): Show |
intron_variant | MODIFIER | HG02970.hp2 HG06807.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0005a0001c0013t0008 | a0001c0001t0005g0035 a0001c0001t0005g0129 a0001c0013t0008g0130 |
4 | 5 | 0.8000 | 662 | c.156 others(677): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(655): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03017.hp1 HG03688.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 a0002c0002t0001g0184 a0002c0002t0001g0185 others(2): Show |
6 | 7 | 0.8571 | 662 | c.156 others(677): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(655): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
311 | 312 | 0.9968 | 662 | c.156 others(677): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CKAP2_chr13_52450478_52481627 | 52460717 | G | GCTGGGAT others(655): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 404 | 0.0025 | 662 | c.156 others(677): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(655): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 164 | 0.0061 | 662 | c.923 others(681): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1508511 | T | TGCAAACC others(655): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0036 | 1 | 11 | 0.0909 | 662 | c.172 others(679): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAJB6_chr7_157332004_157422439 | 157369660 | A | AGGCCCCT others(655): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 370 | 0.0027 | 662 | c.346 others(679): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(655): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0086 a0001c0001t0011g0059 |
2 | 16 | 0.1250 | 662 | c.-38 others(673): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(655): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0157 | 1 | 9 | 0.1111 | 662 | c.642 others(679): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3316016 | C | CCACAGCC others(655): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 195 | 0.0051 | 662 | c.259 others(681): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137327999 | T | TAAAAACA others(655): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0039 | 1 | 54 | 0.0185 | 662 | c.199 others(681): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(655): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 2 | 12 | 0.1667 | 662 | c.*35 others(673): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218244 | C | CAACACCA others(655): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0009 | 1 | 31 | 0.0323 | 662 | c.*27 others(673): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1075 | chr8 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(655): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 95 | 0.0105 | 662 | c.-97 others(679): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(655): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0153 | 1 | 119 | 0.0084 | 662 | c.258 others(679): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400203 | C | CCTCGCCC others(655): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0114 | 1 | 274 | 0.0036 | 662 | c.*66 others(673): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3271 | chr2 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(655): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 5 | 0.2000 | 662 | c.-41 others(677): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5131596 | A | AGGGGAGG others(655): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 237 | 0.0042 | 662 | c.178 others(679): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5131596 | A | AGGGGAGG others(655): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0254 | 1 | 237 | 0.0042 | 662 | c.178 others(679): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(655): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 5 | 0.2000 | 662 | c.-46 others(673): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCAAC others(655): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0078 | a0001c0001t0003g0286 a0001c0001t0078g0288 |
2 | 342 | 0.0058 | 662 | c.64+ others(679): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(655): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01891.hp2 HG02109.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0003a0001c0001t0004a0002c0006t0003 | a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0022 others(14): Show |
18 | 28 | 0.6429 | 662 | c.*52 others(673): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(655): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01168.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0012 | a0001c0001t0003g0178 a0001c0001t0004g0019 a0001c0001t0004g0045 others(5): Show |
8 | 18 | 0.4444 | 662 | c.*52 others(673): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(655): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG01168.hp2 others(13): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0003c0004t0001a0004c0003t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(12): Show |
16 | 19 | 0.8421 | 662 | c.212 others(681): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(655): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0370 | 1 | 194 | 0.0052 | 662 | c.*56 others(673): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(655): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01256.hp2 HG01884.hp1 others(7): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0005a0006c0012t0001 | a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0179 others(7): Show |
10 | 203 | 0.0493 | 662 | c.*56 others(673): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(655): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 194 | 0.0052 | 662 | c.*56 others(673): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(655): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0383 | 1 | 194 | 0.0052 | 662 | c.*56 others(673): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(655): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0212 |
3 | 196 | 0.0153 | 662 | c.*56 others(673): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(655): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 194 | 0.0052 | 662 | c.*56 others(673): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(655): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG02056.hp1 HG02074.hp1 others(20): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0009a0002c0002t0010 | a0002c0002t0004g0015 a0002c0002t0004g0113 a0002c0002t0004g0129 others(19): Show |
23 | 216 | 0.1065 | 662 | c.*56 others(673): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(655): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 662 | c.-32 others(673): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(655): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 4 | 0.2500 | 662 | c.114 others(681): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(655): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 4 | 0.2500 | 662 | c.114 others(681): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |