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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIN2A_chr16_9748408_10187428 | 9848749 | T | TTTTAAAT others(367): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0066 | 1 | 168 | 0.0060 | 374 | c.132 others(393): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 5/12 | chr16 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCCCCC others(367): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0115 | 1 | 290 | 0.0035 | 374 | c.427 others(391): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106710137 | T | TTATATAC others(367): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01361.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0003 | a0001c0001t0003g0080 a0001c0012t0003g0207 |
2 | 256 | 0.0078 | 374 | c.183 others(393): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112339310 | C | CAAGAAAA others(367): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 270 | 0.0037 | 374 | c.178 others(393): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144313788 | G | GCGCCGCG others(367): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 330 | 0.0030 | 374 | c.124 others(389): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(367): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 323 | 0.0031 | 374 | c.-36 others(385): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TACGGAAT others(367): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0117 a0003c0003t0009g0119 |
2 | 323 | 0.0062 | 374 | c.-21 others(385): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TACACAAG others(367): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 232 | 0.0043 | 374 | c.-67 others(393): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758709 | G | GATATATA others(367): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 232 | 0.0043 | 374 | c.-67 others(393): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168035461 | C | CGGGGGGG others(367): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0036 | 1 | 375 | 0.0027 | 374 | c.317 others(391): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(367): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0092 | 1 | 308 | 0.0033 | 374 | c.*66 others(385): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124610410 | C | CGGGTGAG others(367): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 260 | 0.0039 | 374 | c.717 others(391): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857590 | G | GAGTGATG others(367): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 294 | 0.0034 | 374 | c.153 others(393): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(367): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 294 | 0.0034 | 374 | c.153 others(393): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857751 | G | GAGTGGTG others(367): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0024 | a0005c0024t0007 | a0005c0024t0007g0259 | 1 | 294 | 0.0034 | 374 | c.153 others(393): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858987 | G | GAGTGGTG others(367): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 294 | 0.0034 | 374 | c.153 others(393): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858988 | C | CAGTGGTG others(367): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19010.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0251 a0001c0008t0001g0090 |
2 | 294 | 0.0068 | 374 | c.153 others(393): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858988 | C | CAGTGGTG others(367): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0176 | 1 | 294 | 0.0034 | 374 | c.153 others(393): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 960364 | C | CACAGACT others(367): Show |
intron_variant | MODIFIER | HG03453.hp2 HG06807.hp2 |
a0011 | a0011c0039a0011c0040 | a0011c0039t0001a0011c0040t0002 | a0011c0039t0001g0245 a0011c0040t0002g0264 |
2 | 294 | 0.0068 | 374 | c.194 others(391): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LRGUK_chr7_134122340_134269595 | 134190878 | A | AAAGCAGT others(367): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03654.hp1 NA19091.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0005 a0001c0003t0003g0128 a0001c0003t0003g0131 |
3 | 220 | 0.0136 | 374 | c.133 others(391): Show |
LRGUK | ENSG00000155530.4 | transcript | ENST00000285928.3 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579114 | C | CCACCACC others(367): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 362 | 0.0028 | 374 | c.391 others(389): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478003 | G | GGGGGGAG others(367): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 163 | 0.0061 | 374 | c.525 others(391): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237517073 | G | GTGTTTGA others(367): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01081.hp1 others(46): Show |
a0003a0005a0008others(4): Show | a0003c0003a0003c0054a0005c0004others(6): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(16): Show | a0003c0003t0001g0091 a0003c0003t0001g0106 a0003c0003t0001g0107 others(46): Show |
49 | 286 | 0.1713 | 374 | c.446 others(391): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MPPED2_chr11_30405224_30591353 | 30557214 | T | TATATATA others(367): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0147 a0001c0001t0010g0148 |
2 | 262 | 0.0076 | 374 | c.129 others(393): Show |
MPPED2 | ENSG00000066382.17 | transcript | ENST00000358117.10 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
MSH4_chr1_75791882_75918242 | 75906498 | T | TATATATA others(367): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 NA20752.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0089 a0002c0003t0001g0091 a0002c0003t0001g0096 |
3 | 332 | 0.0090 | 374 | c.262 others(393): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75906498 | T | TATATATA others(367): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0130 | 1 | 332 | 0.0030 | 374 | c.262 others(393): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588871 | A | ACATATAT others(367): Show |
intron_variant | MODIFIER | HG01975.hp1 HG03486.hp1 NA19004.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0088 a0003c0003t0001g0146 a0003c0003t0001g0157 |
3 | 364 | 0.0082 | 374 | c.394 others(389): 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(367): Show |
intron_variant | MODIFIER | NA19001.hp1 NA19011.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0086 a0003c0003t0001g0151 |
2 | 364 | 0.0055 | 374 | c.394 others(389): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169771266 | A | ATATAAAA others(367): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0050 | 1 | 350 | 0.0029 | 374 | c.-22 others(385): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2129 | chr3 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2295565 | C | CAGAGAGA others(367): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0020 | a0001c0020t0005 | a0001c0020t0005g0081 | 1 | 104 | 0.0096 | 374 | c.-52 others(395): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(367): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 223 | 0.0045 | 374 | c.289 others(391): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(367): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0018 | a0001c0018t0048 | a0001c0018t0048g0141 | 1 | 166 | 0.0060 | 374 | c.214 others(393): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NELFB_chr9_137250327_137278542 | 137273768 | A | AATAATTT others(367): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0077 | 1 | 364 | 0.0028 | 374 | c.*84 others(383): Show |
NELFB | ENSG00000188986.9 | transcript | ENST00000343053.6 | protein_coding | 227 | chr9 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571086 | T | TGTGTCTG others(367): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 374 | c.*26 others(385): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1592 | chr16 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCCCT others(367): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0009 | a0009c0010 | a0009c0010t0006 | a0009c0010t0006g0003 | 1 | 350 | 0.0029 | 374 | c.*55 others(385): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237783 | A | ATAGTATA others(367): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 |
2 | 439 | 0.0046 | 374 | c.-15 others(385): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1502 | chr14 | TogoVar | |||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(367): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 438 | 0.0023 | 374 | c.-29 others(389): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(367): Show |
intron_variant | MODIFIER | HG01516.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 2 | 438 | 0.0046 | 374 | c.-29 others(389): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(367): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 438 | 0.0023 | 374 | c.-29 others(389): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(367): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 438 | 0.0023 | 374 | c.-29 others(389): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168499273 | T | TGGGAGGG others(367): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 156 | 0.0064 | 374 | c.-83 others(391): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909826 | C | CCCACCCA others(367): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0215 | 1 | 292 | 0.0034 | 374 | c.471 others(389): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 669173 | C | CACTACTC others(367): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0043 | 1 | 308 | 0.0033 | 374 | c.250 others(391): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | chr4 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 285909 | C | CCCAACCC others(367): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0031 | a0003c0031t0001 | a0003c0031t0001g0155 | 1 | 436 | 0.0023 | 374 | c.111 others(391): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAGAAAG others(367): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 342 | 0.0029 | 374 | c.20- others(389): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 976907 | C | CAACCCCG others(367): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03704.hp2 |
a0001 | a0001c0001a0001c0036 | a0001c0001t0007a0001c0036t0007 | a0001c0001t0007g0033 a0001c0036t0007g0171 |
2 | 408 | 0.0049 | 374 | c.215 others(391): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977572 | C | CCAACCCC others(367): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03704.hp2 |
a0001 | a0001c0001a0001c0036 | a0001c0001t0007a0001c0036t0007 | a0001c0001t0007g0033 a0001c0036t0007g0171 |
2 | 408 | 0.0049 | 374 | c.215 others(391): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571086 | T | TGTGTCTG others(367): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0047 | 1 | 408 | 0.0025 | 374 | c.-10 others(389): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976907 | C | CAACCCCG others(367): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 | 1 | 422 | 0.0024 | 374 | c.*23 others(385): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1043 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977572 | C | CCAACCCC others(367): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 HG02486.hp2 HG03704.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0007t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0015g0001 a0001c0007t0001g0001 others(2): Show |
5 | 422 | 0.0119 | 374 | c.*29 others(385): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1708 | chr1 | TogoVar |