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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLE_chr12_132618762_132692342 | 132636441 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0025 | 1 | 292 | 0.0034 | -10 | c.567 others(27): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 41/48 | chr12 | TogoVar | ||||||
POLE_chr12_132618762_132692342 | 132639952 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(135): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0005a0001c0012others(18): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(127): Show | 138 | 292 | 0.4726 | -10 | c.537 others(27): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 39/48 | chr12 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325097 | TGAGAGAG others(3): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0050 | 2 | 398 | 0.0050 | -10 | c.194 others(27): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325211 | TGAGTGAG others(3): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 398 | 0.0025 | -10 | c.194 others(27): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
POLI_chr18_54264517_54303234 | 54285521 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0013 | a0013c0017 | a0013c0017t0011 | a0013c0017t0011g0044 | 1 | 338 | 0.0030 | -10 | c.106 others(29): Show |
POLI | ENSG00000101751.11 | transcript | ENST00000579534.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
POLK_chr5_75506891_75614991 | 75527502 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0031a0001c0002t0064 | a0001c0002t0031g0222a0001c0002t0031g0223a0001c0002t0064g0221 | 3 | 356 | 0.0084 | -10 | c.-14 others(29): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
POLK_chr5_75506891_75614991 | 75589376 | TATATACA others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0066a0001c0002t0115 | a0001c0001t0066g0217a0001c0002t0115g0211 | 2 | 356 | 0.0056 | -10 | c.126 others(27): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
POLK_chr5_75506891_75614991 | 75589388 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03704.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0004 | a0001c0001t0009g0234a0001c0002t0004g0314a0001c0002t0004g0327others(1): Show | 4 | 356 | 0.0112 | -10 | c.126 others(27): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
POLK_chr5_75506891_75614991 | 75605118 | TACACACA others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0082 | 1 | 356 | 0.0028 | -10 | c.*71 others(21): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 15/15 | 7131 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
POLN_chr4_2066918_2247121 | 2091761 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0162 | 1 | 194 | 0.0052 | -10 | c.206 others(29): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 20/25 | chr4 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2130266 | AGAGGAGA others(3): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0085 | 1 | 194 | 0.0052 | -10 | c.178 others(27): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 17/25 | chr4 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2158279 | TAGTGTTT others(3): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03579.hp2 NA18522.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001a0005c0006t0001g0002a0005c0006t0001g0003 | 3 | 194 | 0.0155 | -10 | c.161 others(27): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 14/25 | chr4 | TogoVar | ||||||
POLN_chr4_2066918_2247121 | 2164802 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp1 HG02723.hp1 others(6): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0002a0001c0003t0003a0005c0006t0001 | a0001c0003t0002g0004a0001c0003t0002g0005a0001c0003t0002g0006others(6): Show | 9 | 194 | 0.0464 | -10 | c.155 others(29): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 13/25 | chr4 | TogoVar | ||||||
POLQ_chr3_121426431_121550988 | 121522284 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG02056.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0124a0001c0001t0001g0231a0001c0001t0001g0232others(3): Show | 6 | 318 | 0.0189 | -10 | c.110 others(27): Show |
POLQ | ENSG00000051341.15 | transcript | ENST00000264233.6 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86041182 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00741.hp1 others(41): Show |
a0001a0003a0004 | a0001c0002a0003c0004a0003c0031others(1): Show | a0001c0002t0003a0001c0002t0074a0003c0004t0006others(8): Show | a0001c0002t0003g0187a0001c0002t0003g0256a0001c0002t0003g0258others(39): Show | 44 | 340 | 0.1294 | -10 | c.357 others(27): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 24/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86071227 | CATGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(215): Show |
a0001a0005a0006others(9): Show | a0001c0001a0001c0002a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(65): Show | a0001c0001t0001g0009a0001c0001t0001g0180a0001c0001t0001g0182others(210): Show | 218 | 340 | 0.6412 | -10 | c.161 others(27): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 12/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86077809 | GCGCACAC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01261.hp2 HG01346.hp2 others(17): Show |
a0001a0005a0008 | a0001c0002a0001c0012a0005c0006others(2): Show | a0001c0002t0003a0001c0002t0014a0001c0002t0054others(8): Show | a0001c0002t0003g0257a0001c0002t0003g0279a0001c0002t0003g0304others(17): Show | 20 | 340 | 0.0588 | -10 | c.138 others(25): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 11/33 | chr2 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86077811 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG01109.hp2 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0012a0002c0003a0005c0006others(1): Show | a0001c0012t0002a0002c0003t0002a0002c0003t0018others(5): Show | a0001c0012t0002g0150a0002c0003t0002g0019a0002c0003t0002g0022others(14): Show | 18 | 340 | 0.0529 | -10 | c.138 others(25): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 11/33 | chr2 | TogoVar | ||||||
POLR1B_chr2_112537465_112584818 | 112546544 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0034a0001c0001t0035others(1): Show | a0001c0001t0030g0052a0001c0001t0034g0051a0001c0001t0035g0054others(2): Show | 5 | 384 | 0.0130 | -10 | c.178 others(25): Show |
POLR1B | ENSG00000125630.16 | transcript | ENST00000263331.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
POLR1B_chr2_112537465_112584818 | 112579208 | CAAAAAAA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02965.hp2 HG04204.hp2 |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0069a0007c0013t0053 | a0001c0001t0069g0244a0007c0013t0053g0004 | 2 | 384 | 0.0052 | -10 | c.*35 others(21): Show |
POLR1B | ENSG00000125630.16 | transcript | ENST00000263331.10 | protein_coding | 15/15 | 3502 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
POLR1E_chr9_37480948_37508697 | 37500155 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00738.hp2 others(94): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0003c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0005t0003others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0023others(34): Show | 97 | 408 | 0.2378 | -10 | c.887 others(25): Show |
POLR1E | ENSG00000137054.16 | transcript | ENST00000377798.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
POLR1G_chr19_45401644_45415737 | 45410565 | TTGTGTGT others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0004 | a0004c0004t0105 | a0004c0004t0105g0001 | 1 | 406 | 0.0025 | -10 | c.*10 others(21): Show |
POLR1G | ENSG00000117877.11 | transcript | ENST00000309424.8 | protein_coding | 3/3 | 1087 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
POLR1G_chr19_45401644_45415737 | 45411853 | TTGGTTTT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0004 | 1 | 406 | 0.0025 | -10 | c.*23 others(21): Show |
POLR1G | ENSG00000117877.11 | transcript | ENST00000309424.8 | protein_coding | 1117 | chr19 | TogoVar | ||||||
POLR1H_chr6_30056265_30069907 | 30062543 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0013 | 25 | 445 | 0.0562 | -10 | c.356 others(25): Show |
POLR1H | ENSG00000066379.15 | transcript | ENST00000332435.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
POLR2B_chr4_56973896_57036158 | 56989707 | AGGTGTGG others(3): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0345 | 1 | 382 | 0.0026 | -10 | c.93- others(25): Show |
POLR2B | ENSG00000047315.17 | transcript | ENST00000314595.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
POLR2B_chr4_56973896_57036158 | 57009742 | GGAAAGAG others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02280.hp2 others(1): Show |
a0001a0003 | a0001c0006a0003c0009 | a0001c0006t0001a0003c0009t0001 | a0001c0006t0001g0006a0001c0006t0001g0240a0003c0009t0001g0006 | 4 | 382 | 0.0105 | -10 | c.140 others(27): Show |
POLR2B | ENSG00000047315.17 | transcript | ENST00000314595.6 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
POLR2D_chr2_127838553_127863155 | 127845373 | CTTTTTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0027a0001c0001t0014g0218a0001c0001t0014g0233 | 4 | 358 | 0.0112 | -10 | c.*27 others(21): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 4/4 | 2724 | chr2 | TogoVar | |||||
POLR2D_chr2_127838553_127863155 | 127855394 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 358 | 0.0028 | -10 | c.74- others(25): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
POLR2D_chr2_127838553_127863155 | 127862865 | GATAAAAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 358 | 0.0028 | -10 | c.-47 others(21): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 4711 | chr2 | TogoVar | ||||||
POLR2E_chr19_1081574_1100375 | 1086871 | CCCAGGGC others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0156 | 1 | 442 | 0.0023 | -10 | c.*18 others(21): Show |
POLR2E | ENSG00000099817.12 | transcript | ENST00000615234.5 | protein_coding | 8/8 | 2605 | chr19 | TogoVar | |||||
POLR2F_chr22_37948699_37974312 | 37951797 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0025a0001c0001t0005g0026a0001c0001t0005g0049others(1): Show | 6 | 404 | 0.0149 | -10 | c.-19 others(21): Show |
POLR2F | ENSG00000100142.16 | transcript | ENST00000442738.7 | protein_coding | 1901 | chr22 | TogoVar | ||||||
POLR2F_chr22_37948699_37974312 | 37974237 | GAAGCAGG others(3): Show |
G | downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 404 | 0.0025 | -10 | c.*65 others(21): Show |
POLR2F | ENSG00000100142.16 | transcript | ENST00000442738.7 | protein_coding | 4926 | chr22 | TogoVar | ||||||
POLR2G_chr11_62756580_62771710 | 62757073 | CATATATA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01515.hp1 HG02027.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(2): Show | 12 | 368 | 0.0326 | -10 | c.-45 others(21): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 4506 | chr11 | TogoVar | ||||||
POLR2K_chr8_100145636_100159003 | 100157632 | GTGTGTGT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG04184.hp1 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0002a0001c0001t0010g0002 | 2 | 430 | 0.0047 | -10 | c.*43 others(21): Show |
POLR2K | ENSG00000147669.11 | transcript | ENST00000353107.8 | protein_coding | 3630 | chr8 | TogoVar | ||||||
POLR2M_chr15_57701714_57722557 | 57713817 | CTTCTTTT others(3): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 404 | 0.0025 | -10 | c.964 others(25): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
POLR2M_chr15_57701714_57722557 | 57713820 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0022 | 2 | 404 | 0.0050 | -10 | c.964 others(25): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
POLR3A_chr10_77970149_78034515 | 77982038 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0016 | a0001c0016t0008 | a0001c0016t0008g0311 | 1 | 374 | 0.0027 | -10 | c.375 others(27): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 28/30 | chr10 | TogoVar | ||||||
POLR3A_chr10_77970149_78034515 | 78030446 | CTATATAT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG06807.hp1 NA21309.hp1 |
a0001 | a0001c0003a0001c0005a0001c0023 | a0001c0003t0022a0001c0005t0001a0001c0023t0001 | a0001c0003t0022g0313a0001c0005t0001g0350a0001c0023t0001g0113 | 3 | 374 | 0.0080 | -10 | c.-10 others(21): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 932 | chr10 | TogoVar | ||||||
POLR3A_chr10_77970149_78034515 | 78030490 | GTTTTTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 374 | 0.0027 | -10 | c.-10 others(21): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 976 | chr10 | TogoVar | ||||||
POLR3A_chr10_77970149_78034515 | 78031539 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0019 | a0001c0019t0024 | a0001c0019t0024g0319 | 1 | 374 | 0.0027 | -10 | c.-21 others(21): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 2025 | chr10 | TogoVar | ||||||
POLR3A_chr10_77970149_78034515 | 78031541 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0313 | 1 | 374 | 0.0027 | -10 | c.-21 others(21): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 2027 | chr10 | TogoVar | ||||||
POLR3B_chr12_106352748_106515198 | 106370184 | GTGGTCAA others(3): Show |
G | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0228 | 1 | 304 | 0.0033 | -10 | c.404 others(25): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
POLR3B_chr12_106352748_106515198 | 106393491 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | NA18983.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0091a0001c0002t0002g0196 | 2 | 304 | 0.0066 | -10 | c.846 others(25): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
POLR3B_chr12_106352748_106515198 | 106401127 | AGTGATAA others(3): Show |
A | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 304 | 0.0033 | -10 | c.847 others(27): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
POLR3B_chr12_106352748_106515198 | 106486287 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01167.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(18): Show | 21 | 304 | 0.0691 | -10 | c.271 others(29): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
POLR3C_chr1_145819200_145849402 | 145848948 | TCTGAAAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 368 | 0.0027 | -10 | c.*65 others(21): Show |
POLR3C | ENSG00000186141.10 | transcript | ENST00000334163.4 | protein_coding | 4547 | chr1 | TogoVar | ||||||
POLR3D_chr8_22240133_22259601 | 22241505 | CTGTGTGT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0029a0001c0002t0004g0004 | 5 | 432 | 0.0116 | -10 | c.-36 others(21): Show |
POLR3D | ENSG00000168495.13 | transcript | ENST00000306433.9 | protein_coding | 3627 | chr8 | TogoVar | ||||||
POLR3D_chr8_22240133_22259601 | 22244018 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 432 | 0.0023 | -10 | c.-11 others(21): Show |
POLR3D | ENSG00000168495.13 | transcript | ENST00000306433.9 | protein_coding | 1114 | chr8 | TogoVar | ||||||
POLR3D_chr8_22240133_22259601 | 22258278 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01257.hp1 HG01928.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0008 | a0001c0002t0002g0003a0001c0003t0008g0007 | 8 | 432 | 0.0185 | -10 | c.*77 others(21): Show |
POLR3D | ENSG00000168495.13 | transcript | ENST00000306433.9 | protein_coding | 3678 | chr8 | TogoVar | ||||||
POLR3E_chr16_22292409_22340096 | 22302057 | CCAGCTGA others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02109.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0077a0001c0001t0001g0078others(16): Show | 20 | 358 | 0.0559 | -10 | c.-38 others(25): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 1/20 | chr16 | TogoVar |