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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3956): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0217 | 1 | 153 | 0.0065 | 3963 | c.859 others(3980): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3956): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 55 | 0.0182 | 3963 | c.891 others(3978): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833525 | A | AAAGCTCC others(3956): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0102 | 1 | 362 | 0.0028 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02055.hp2 HG02717.hp2 others(4): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0002a0003c0007t0001 | a0003c0003t0001g0219 a0003c0003t0002g0008 a0003c0003t0002g0058 others(3): Show |
7 | 124 | 0.0565 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0065 | 1 | 118 | 0.0085 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0214 a0009c0018t0001g0215 |
2 | 119 | 0.0168 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG02965.hp2 others(1): Show |
a0007a0009 | a0007c0016a0009c0018 | a0007c0016t0003a0009c0018t0001 | a0007c0016t0003g0314 a0007c0016t0003g0315 a0007c0016t0003g0316 others(1): Show |
4 | 121 | 0.0331 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3956): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02074.hp2 others(9): Show |
a0003a0004a0016 | a0003c0003a0004c0006a0004c0014others(1): Show | a0003c0003t0001a0004c0006t0001a0004c0006t0006others(2): Show | a0003c0003t0001g0228 a0004c0006t0001g0015 a0004c0006t0001g0016 others(7): Show |
12 | 129 | 0.0930 | 3963 | c.641 others(3978): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3956): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0039 | 1 | 8 | 0.1250 | 3963 | c.-45 others(3972): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3956): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 283 | 0.0035 | 3963 | c.112 others(3980): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3956): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | 284 | 0.0070 | 3963 | c.112 others(3980): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3957): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 55 | 0.0182 | 3964 | c.891 others(3979): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3957): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0018 | a0018c0032 | a0018c0032t0001 | a0018c0032t0001g0217 | 1 | 118 | 0.0085 | 3964 | c.641 others(3979): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3957): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0007 | a0007c0016 | a0007c0016t0003 | a0007c0016t0003g0313 | 1 | 118 | 0.0085 | 3964 | c.641 others(3979): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3957): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0221 | 1 | 118 | 0.0085 | 3964 | c.641 others(3979): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3957): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 283 | 0.0035 | 3964 | c.112 others(3981): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3958): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0160 | 1 | 8 | 0.1250 | 3965 | c.723 others(3982): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3958): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 283 | 0.0035 | 3965 | c.112 others(3982): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3958): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 283 | 0.0035 | 3965 | c.112 others(3982): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(3959): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0053 | 1 | 42 | 0.0238 | 3966 | c.179 others(3981): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3959): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(16): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 a0003c0004t0001g0013 a0003c0004t0001g0014 others(10): Show |
19 | 136 | 0.1397 | 3966 | c.641 others(3981): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(3959): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0044 | 1 | 71 | 0.0141 | 3966 | c.153 others(3985): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(3960): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0333 | 1 | 173 | 0.0058 | 3967 | c.127 others(3984): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3960): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0038 | a0001c0001t0017g0294 a0001c0001t0038g0292 |
2 | 154 | 0.0130 | 3967 | c.859 others(3984): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3960): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 153 | 0.0065 | 3967 | c.859 others(3984): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3960): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19009.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0204 a0003c0004t0001g0205 |
2 | 119 | 0.0168 | 3967 | c.641 others(3982): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3960): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0019 | a0019c0017 | a0019c0017t0015 | a0019c0017t0015g0247 | 1 | 32 | 0.0313 | 3967 | c.218 others(3982): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3960): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 283 | 0.0035 | 3967 | c.112 others(3984): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3960): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 283 | 0.0035 | 3967 | c.112 others(3984): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3960): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 283 | 0.0035 | 3967 | c.112 others(3984): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3961): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 2 | 0.5000 | 3968 | c.125 others(3985): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3961): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 |
2 | 284 | 0.0070 | 3968 | c.112 others(3985): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3962): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02074.hp2 HG02135.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0021others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0035 others(9): Show |
13 | 165 | 0.0788 | 3969 | c.859 others(3986): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3962): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 153 | 0.0065 | 3969 | c.859 others(3986): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3962): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(17): Show |
21 | 173 | 0.1214 | 3969 | c.859 others(3986): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3962): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 153 | 0.0065 | 3969 | c.859 others(3986): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3962): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 153 | 0.0065 | 3969 | c.859 others(3986): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3962): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 153 | 0.0065 | 3969 | c.859 others(3986): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3962): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0138 |
2 | 10 | 0.2000 | 3969 | c.642 others(3986): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CAGGGGGG others(3962): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 242 | 0.0041 | 3969 | c.157 others(3984): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3962): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 8 | 0.1250 | 3969 | c.-45 others(3978): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3962): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02965.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0111 a0001c0001t0001g0112 |
3 | 10 | 0.3000 | 3969 | c.-45 others(3978): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3963): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 153 | 0.0065 | 3970 | c.859 others(3987): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3963): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 153 | 0.0065 | 3970 | c.859 others(3987): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3963): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0296 | 1 | 153 | 0.0065 | 3970 | c.859 others(3987): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
GMCL1_chr2_69824660_69886384 | 69833248 | C | CAGAATTT others(3963): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 388 | 0.0026 | 3970 | c.260 others(3987): Show |
GMCL1 | ENSG00000087338.5 | transcript | ENST00000282570.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3963): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 8 | 0.1250 | 3970 | c.-45 others(3979): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(3963): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 283 | 0.0035 | 3970 | c.112 others(3987): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3964): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 153 | 0.0065 | 3971 | c.859 others(3988): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3964): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 a0001c0001t0001g0295 |
2 | 154 | 0.0130 | 3971 | c.859 others(3988): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar |