| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LINGO2_chr9_27932617_29218601 | 28189417 | A | AAGGAAGG others(417): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0035 a0001c0001t0004g0033 |
2 | 62 | 0.0323 | 424 | c.-36 others(445): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857636 | G | GAGTGGTG others(417): Show |
intron_variant | MODIFIER | NA19003.hp2 NA19066.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0129 a0001c0005t0001g0130 |
2 | 294 | 0.0068 | 424 | c.153 others(443): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857659 | G | GAGTGGTG others(417): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0091 | 1 | 294 | 0.0034 | 424 | c.153 others(443): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857659 | G | GCAGTGGT others(417): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 294 | 0.0034 | 424 | c.153 others(443): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857669 | A | ACGGGACC others(417): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0290 | 1 | 294 | 0.0034 | 424 | c.153 others(443): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | CAGTGGTG others(417): Show |
intron_variant | MODIFIER | HG01099.hp2 HG04184.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0150 a0001c0013t0001g0094 |
2 | 294 | 0.0068 | 424 | c.153 others(443): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | CAGTGGTG others(417): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18983.hp1 |
a0002 | a0002c0007a0002c0055 | a0002c0007t0001a0002c0055t0001 | a0002c0007t0001g0182 a0002c0055t0001g0206 |
2 | 294 | 0.0068 | 424 | c.153 others(443): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LRRC23_chr12_6899822_6919229 | 6909135 | T | TATATAAT others(417): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01192.hp1 HG01256.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0141 others(6): Show |
11 | 316 | 0.0348 | 424 | c.622 others(439): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
| LRRC23_chr12_6899822_6919229 | 6909135 | T | TATATAAT others(417): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0138 | 1 | 316 | 0.0032 | 424 | c.622 others(439): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132364445 | A | ACACCCAC others(417): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0080 | 1 | 290 | 0.0035 | 424 | c.129 others(441): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LUZP2_chr11_24492053_25087638 | 24602247 | T | TATATGTA others(417): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 116 | 0.0086 | 424 | c.62+ others(443): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LUZP2_chr11_24492053_25087638 | 24602247 | T | TATATGTA others(417): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 116 | 0.0086 | 424 | c.62+ others(443): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| MAN2B2_chr4_6570189_6628362 | 6579325 | C | CCACCATC others(417): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 362 | 0.0028 | 424 | c.391 others(439): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MBNL3_chrX_132364320_132494038 | 132396681 | T | TATATATT others(417): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0031 |
2 | 191 | 0.0105 | 424 | c.343 others(441): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396681 | T | TATATATT others(417): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 a0001c0001t0002g0162 |
2 | 191 | 0.0105 | 424 | c.343 others(441): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(417): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 191 | 0.0052 | 424 | c.343 others(441): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(417): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 191 | 0.0052 | 424 | c.343 others(441): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| METTL25B_chr1_156723469_156741960 | 156735534 | T | TAAAAAAA others(417): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0095 |
2 | 390 | 0.0051 | 424 | c.112 others(441): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(417): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 NA18985.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 364 | 0.0082 | 424 | c.*18 others(435): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | |||||||
| MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(417): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 364 | 0.0028 | 424 | c.*18 others(435): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | |||||||
| MSH4_chr1_75791882_75918242 | 75906484 | C | CAATATTG others(417): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 332 | 0.0030 | 424 | c.262 others(443): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MSH4_chr1_75791882_75918242 | 75906518 | T | TTGTATAT others(417): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 332 | 0.0030 | 424 | c.262 others(443): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | chr1 | TogoVar | |||||||
| MSR1_chr8_16102881_16197651 | 16189584 | A | ATATACAT others(417): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG01257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(5): Show |
8 | 330 | 0.0242 | 424 | c.-5+ others(439): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
| MSR1_chr8_16102881_16197651 | 16189584 | A | ATATACAT others(417): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 330 | 0.0030 | 424 | c.-5+ others(439): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
| MTTP_chr4_99569824_99628997 | 99588843 | A | ACATATAT others(417): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0140 | 1 | 364 | 0.0028 | 424 | c.394 others(439): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99588899 | A | ACATATAT others(417): Show |
intron_variant | MODIFIER | NA18941.hp1 NA19068.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0126 a0003c0003t0001g0153 |
2 | 364 | 0.0055 | 424 | c.394 others(439): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(417): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 NA18977.hp1 |
a0001a0007 | a0001c0001a0001c0003a0007c0021 | a0001c0001t0006a0001c0003t0005a0007c0021t0003 | a0001c0001t0006g0347 a0001c0003t0005g0343 a0007c0021t0003g0260 |
3 | 362 | 0.0083 | 424 | c.-75 others(443): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NLRP8_chr19_55942832_55993629 | 55993521 | C | CCCCTCCC others(417): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0004 | a0003c0004t0044 | a0003c0004t0044g0217 | 1 | 350 | 0.0029 | 424 | c.*56 others(435): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4893 | chr19 | TogoVar | |||||||
| NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(417): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 356 | 0.0028 | 424 | c.91+ others(437): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NRCAM_chr7_108142649_108461436 | 108164056 | G | GGTAATGA others(417): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03710.hp2 NA18943.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0002 | a0001c0002t0001g0054 a0001c0002t0001g0073 a0001c0002t0001g0152 others(2): Show |
5 | 208 | 0.0240 | 424 | c.346 others(443): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | |||||||
| NRCAM_chr7_108142649_108461436 | 108164056 | G | GGTAATGA others(417): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 208 | 0.0048 | 424 | c.346 others(443): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | |||||||
| NUP93_chr16_56725129_56855286 | 56808499 | T | TAAAATAT others(417): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0301 | 1 | 378 | 0.0027 | 424 | c.489 others(441): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841445 | C | CCCCCGAC others(417): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 242 | 0.0041 | 424 | c.361 others(443): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 949407 | C | CCCCCCTG others(417): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 242 | 0.0041 | 424 | c.360 others(443): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(417): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 439 | 0.0023 | 424 | c.-16 others(435): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(417): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 439 | 0.0023 | 424 | c.-16 others(435): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| OR2T1_chr1_248398048_248413020 | 248408254 | C | CGCATTTG others(417): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 266 | 0.0038 | 424 | c.*11 others(435): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 235 | chr1 | TogoVar | |||||||
| OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(417): Show |
intron_variant | MODIFIER | HG03942.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 a0001c0001t0002g0115 |
2 | 326 | 0.0061 | 424 | c.162 others(443): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
| PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(417): Show |
intron_variant | MODIFIER | HG01167.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0003 | a0001c0001t0009g0150 a0001c0002t0003g0075 |
2 | 156 | 0.0128 | 424 | c.196 others(445): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45910135 | A | ACCCACTG others(417): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 292 | 0.0034 | 424 | c.471 others(439): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(417): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 424 | c.-26 others(435): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
| PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGA others(417): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 312 | 0.0032 | 424 | c.*53 others(435): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | |||||||
| PLCB1_chr20_8127266_8889900 | 8661960 | T | TAATTATT others(417): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01109.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0016a0001c0002t0001a0001c0005t0005others(1): Show | a0001c0001t0016g0058 a0001c0002t0001g0038 a0001c0002t0001g0097 others(2): Show |
5 | 106 | 0.0472 | 424 | c.862 others(441): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| PLCB1_chr20_8127266_8889900 | 8662120 | A | AATTATAT others(417): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0079 | 1 | 106 | 0.0094 | 424 | c.862 others(441): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | chr20 | TogoVar | |||||||
| PLEKHG4B_chr5_87168_194966 | 100451 | C | CCTGTAGG others(417): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0032 | a0032c0062 | a0032c0062t0020 | a0032c0062t0020g0188 | 1 | 210 | 0.0048 | 424 | c.45+ others(439): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 100822 | T | TCTGTAGG others(417): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0015 | a0015c0022 | a0015c0022t0011 | a0015c0022t0011g0196 | 1 | 210 | 0.0048 | 424 | c.45+ others(439): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| POLG_chr15_89311320_89339824 | 89325199 | T | TGAGTGAG others(417): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 398 | 0.0025 | 424 | c.194 others(441): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
| PPP6R2_chr22_50338327_50450090 | 50397784 | T | TTGTCATC others(417): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0023 | 1 | 340 | 0.0029 | 424 | c.227 others(441): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PRPF31_chr19_54110754_54136713 | 54133829 | C | CCCTCCCT others(417): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 227 | 0.0044 | 424 | c.*23 others(435): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
| PXDNL_chr8_51314577_51814445 | 51696849 | A | ACACACAC others(417): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18979.hp2 NA19086.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0003c0003t0001g0021 |
3 | 122 | 0.0246 | 424 | c.165 others(443): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar |