| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LRPAP1_chr4_3498612_3537422 | 3509485 | C | CGTGGACA others(433): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0165 | a0001c0001t0165g0169 | 1 | 420 | 0.0024 | 440 | c.*34 others(451): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 3488 | chr4 | TogoVar | ||||||
| LRPAP1_chr4_3498612_3537422 | 3509538 | C | CGCGTGGA others(433): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0164 | a0001c0001t0164g0140 | 1 | 420 | 0.0024 | 440 | c.*34 others(451): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 3435 | chr4 | TogoVar | ||||||
| LTBP2_chr14_74493183_74617237 | 74564165 | A | ATATATAT others(433): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0126 | 1 | 282 | 0.0036 | 440 | c.831 others(457): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 1929810 | A | ACTGCCAC others(433): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0080 | 1 | 264 | 0.0038 | 440 | c.180 others(459): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 2036153 | G | GGGGACAG others(433): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 264 | 0.0038 | 440 | c.121 others(461): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
| MALRD1_chr10_19043801_19739478 | 19238066 | T | TATAATTA others(433): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0025 | a0025c0007 | a0025c0007t0001 | a0025c0007t0001g0131 | 1 | 152 | 0.0066 | 440 | c.299 others(461): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MAN1A2_chr1_117362449_117533872 | 117429829 | C | CGGAGGGG others(433): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0019 | 1 | 370 | 0.0027 | 440 | c.855 others(457): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(433): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 390 | 0.0026 | 440 | c.112 others(457): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(433): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0164 | 1 | 390 | 0.0026 | 440 | c.112 others(457): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(433): Show |
intron_variant | MODIFIER | HG00099.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 2 | 390 | 0.0051 | 440 | c.112 others(457): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| METTL25B_chr1_156723469_156741960 | 156735557 | A | ATAGGCAG others(433): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 390 | 0.0026 | 440 | c.112 others(457): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
| MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(433): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | 440 | c.*18 others(451): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
| MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(433): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0030 |
2 | 364 | 0.0055 | 440 | c.*18 others(451): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
| MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(433): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 364 | 0.0028 | 440 | c.*18 others(451): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | |||||||
| MYL2_chr12_110905845_110925579 | 110905917 | A | ATATATAA others(433): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 368 | 0.0027 | 440 | c.*51 others(451): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4927 | chr12 | TogoVar | |||||||
| MYO7A_chr11_77123246_77220241 | 77193051 | G | GGTGTTGG others(433): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0068 | a0001c0068t0001 | a0001c0068t0001g0333 | 1 | 356 | 0.0028 | 440 | c.415 others(457): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| MYRFL_chr12_69820227_69964097 | 69891706 | T | TTTCTTTC others(433): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0144 | 1 | 322 | 0.0031 | 440 | c.903 others(455): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| MYRIP_chr3_39804609_40265321 | 40084511 | C | CTATCGAT others(433): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0042 |
2 | 170 | 0.0118 | 440 | c.332 others(459): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158648819 | C | CAACCACG others(433): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 378 | 0.0027 | 440 | c.307 others(459): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
| NCAPG2_chr7_158626169_158709804 | 158648819 | C | CAACCAGG others(433): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353 | 1 | 378 | 0.0027 | 440 | c.307 others(459): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | |||||||
| NCAPG2_chr7_158626169_158709804 | 158667579 | C | CCTTACCC others(433): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0317 | 1 | 378 | 0.0027 | 440 | c.148 others(459): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
| NFATC1_chr18_79390930_79534323 | 79532183 | A | ACCCCCCG others(433): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 | 1 | 322 | 0.0031 | 440 | c.*46 others(451): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2861 | chr18 | TogoVar | |||||||
| NFATC1_chr18_79390930_79534323 | 79532183 | A | ACCCCTCG others(433): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0029 | a0001c0029t0004 | a0001c0029t0004g0096 a0001c0029t0004g0098 |
2 | 322 | 0.0062 | 440 | c.*46 others(451): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2861 | chr18 | TogoVar | |||||||
| NFATC1_chr18_79390930_79534323 | 79532188 | T | TCGGCAGA others(433): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0267 | 1 | 322 | 0.0031 | 440 | c.*46 others(451): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2866 | chr18 | TogoVar | |||||||
| NFATC1_chr18_79390930_79534323 | 79532251 | C | CTGCAGCC others(433): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061 | 1 | 322 | 0.0031 | 440 | c.*46 others(451): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2929 | chr18 | TogoVar | |||||||
| NFATC1_chr18_79390930_79534323 | 79532291 | C | CTGCAGCC others(433): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 322 | 0.0031 | 440 | c.*47 others(451): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2969 | chr18 | TogoVar | |||||||
| NFATC1_chr18_79390930_79534323 | 79532291 | C | CTGCAGCC others(433): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 322 | 0.0031 | 440 | c.*47 others(451): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2969 | chr18 | TogoVar | |||||||
| NFILZ_chr19_8625633_8686151 | 8678158 | C | CATCCATC others(433): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp2 | a0004 | a0004c0004 | a0004c0004t0075 | a0004c0004t0075g0199 | 1 | 366 | 0.0027 | 440 | c.*55 others(449): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 555 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NHLRC4_chr16_562005_574495 | 571084 | T | TGTGTGTG others(433): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 440 | c.*26 others(451): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1590 | chr16 | TogoVar | |||||||
| NLRP4_chr19_55831540_55886855 | 55851412 | A | AGGCTGCG others(433): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0099 | 1 | 424 | 0.0024 | 440 | c.-65 others(455): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCTCC others(433): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0214 | 1 | 350 | 0.0029 | 440 | c.*55 others(451): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132148948 | C | CGCCGCCT others(433): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0180 | 1 | 294 | 0.0034 | 440 | c.901 others(453): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149169 | G | GCCGCCTC others(433): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 294 | 0.0034 | 440 | c.901 others(455): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149402 | C | CACCACAC others(433): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 | 1 | 294 | 0.0034 | 440 | c.901 others(455): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149446 | C | CCACACCC others(433): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 294 | 0.0034 | 440 | c.901 others(455): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132149476 | C | CGCCGCCT others(433): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 294 | 0.0034 | 440 | c.901 others(455): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149622 | C | CACCACAC others(433): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 294 | 0.0034 | 440 | c.901 others(455): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149666 | T | TACCACAC others(433): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 294 | 0.0034 | 440 | c.901 others(455): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132150057 | C | CACCACAC others(433): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0126 | 1 | 294 | 0.0034 | 440 | c.902 others(455): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132150365 | C | CACCACAC others(433): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 294 | 0.0034 | 440 | c.902 others(455): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132150483 | C | CGCCGCCT others(433): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 294 | 0.0034 | 440 | c.902 others(455): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(433): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0189 | 1 | 344 | 0.0029 | 440 | c.154 others(457): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(433): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0081 | a0001c0003t0081g0308 | 1 | 344 | 0.0029 | 440 | c.154 others(457): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NT5DC3_chr12_103767310_103846234 | 103768598 | G | GGGGAGGG others(433): Show |
downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 386 | 0.0026 | 440 | c.*92 others(451): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3711 | chr12 | TogoVar | |||||||
| NUP205_chr7_135552917_135653753 | 135570756 | T | TTATATAT others(433): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0082 a0002c0006t0001g0083 |
2 | 352 | 0.0057 | 440 | c.29- others(453): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(433): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 439 | 0.0023 | 440 | c.-16 others(451): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| OR6J1_chr14_22625929_22649352 | 22637544 | C | CCAGCCGC others(433): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 362 | 0.0028 | 440 | c.-27 others(457): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(433): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 436 | 0.0023 | 440 | c.-26 others(451): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
| PIGQ_chr16_564968_589109 | 571084 | T | TGTGTGTG others(433): Show |
intron_variant | MODIFIER | HG01257.hp1 NA19240.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0098 a0002c0001t0001g0100 |
2 | 408 | 0.0049 | 440 | c.-10 others(457): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCCGG others(433): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0032 | a0001c0032t0103 | a0001c0032t0103g0007 | 1 | 210 | 0.0048 | 440 | c.45+ others(451): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |