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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRG3_chr15_26966181_27546984 | 27388114 | A | AAGGAAGG others(192): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 85 | 0.0118 | 199 | c.574 others(218): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807271 | G | GCCCAGGG others(192): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0019 | 1 | 274 | 0.0036 | 199 | c.*31 others(210): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2985 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807931 | T | TCCCTCCC others(192): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0019 | 1 | 270 | 0.0037 | 199 | c.*37 others(210): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3645 | chr2 | TogoVar | |||||||
GALP_chr19_56171008_56190775 | 56176509 | G | GGGGTGAG others(192): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0075 a0001c0002t0016g0076 |
2 | 366 | 0.0055 | 199 | c.-40 others(214): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259186 | G | GGCAGTGA others(192): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0005 | a0003c0005t0045 | a0003c0005t0045g0051 | 1 | 301 | 0.0033 | 199 | c.732 others(216): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
GATD3_chr21_44128683_44150711 | 44147683 | A | ACCCCCAC others(192): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0007 | 1 | 33 | 0.0303 | 199 | c.*27 others(210): Show |
GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 1973 | chr21 | TogoVar | |||||||
GATD3_chr21_44128683_44150711 | 44147683 | A | ACCCCCAC others(192): Show |
downstream_gene_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0019 | 1 | 33 | 0.0303 | 199 | c.*27 others(210): Show |
GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 1973 | chr21 | TogoVar | |||||||
GET4_chr7_871554_901436 | 890277 | C | CGCGAGCG others(192): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0235 | 1 | 318 | 0.0031 | 199 | c.467 others(214): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890277 | C | CGCGAGCG others(192): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0236 | 1 | 318 | 0.0031 | 199 | c.467 others(214): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2615630 | T | TTTTTTTT others(192): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0130 | 1 | 204 | 0.0049 | 199 | c.-78 others(218): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 88687579 | A | ATATATTA others(192): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 89 | 0.0112 | 199 | c.912 others(218): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 88687579 | A | ATATATTA others(192): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0108 | 1 | 89 | 0.0112 | 199 | c.912 others(218): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCCCCC others(192): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 207 | 0.0048 | 199 | c.427 others(216): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709759 | G | GTTATATA others(192): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02723.hp2 |
a0001 | a0001c0003 | a0001c0003t0018a0001c0003t0029 | a0001c0003t0018g0254 a0001c0003t0029g0242 |
2 | 121 | 0.0165 | 199 | c.183 others(218): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559416 | A | AGGAGTCA others(192): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03209.hp2 |
a0004a0068 | a0004c0004a0068c0116 | a0004c0004t0016a0068c0116t0016 | a0004c0004t0016g0012 a0068c0116t0016g0090 |
2 | 309 | 0.0065 | 199 | c.782 others(214): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HES4_chr1_993964_1005097 | 996348 | A | AGGGGCAC others(192): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 199 | 0.0050 | 199 | c.*27 others(210): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 2615 | chr1 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48824223 | C | CCAGCCTG others(192): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01175.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0002c0002t0001a0005c0010t0001 | a0001c0001t0001g0065 a0001c0001t0001g0116 a0001c0001t0001g0119 others(9): Show |
12 | 123 | 0.0976 | 199 | c.369 others(216): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48824223 | C | CCAGCCTG others(192): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG01069.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0007others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(26): Show |
29 | 140 | 0.2071 | 199 | c.369 others(216): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HTR2C_chrX_114579086_114915061 | 114761990 | C | CATATATG others(192): Show |
intron_variant | MODIFIER | NA19062.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0121 a0001c0001t0003g0073 |
2 | 55 | 0.0364 | 199 | c.349 others(218): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | chrX | TogoVar | |||||||
HTR2C_chrX_114579086_114915061 | 114761990 | C | CATATATG others(192): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 54 | 0.0185 | 199 | c.349 others(218): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | chrX | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322587 | A | ATGGTATA others(192): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0193 | 1 | 256 | 0.0039 | 199 | c.-24 others(210): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2382 | chr21 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1969152 | C | CATCTATT others(192): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0074 | a0001c0001t0001g0021 a0001c0001t0074g0184 |
2 | 330 | 0.0061 | 199 | c.-56 others(210): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 4524 | chr8 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240786775 | A | AGGAACCC others(192): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19087.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0207 a0001c0003t0003g0208 |
2 | 242 | 0.0083 | 199 | c.430 others(214): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738613 | C | CCTCATCC others(192): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18997.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0116 a0001c0001t0001g0152 |
3 | 378 | 0.0079 | 199 | c.507 others(216): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120035 | A | AGGAGAGG others(192): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0299 | 1 | 334 | 0.0030 | 199 | c.353 others(216): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120109 | A | AACAGGGA others(192): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19068.hp2 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0107 a0002c0003t0009g0108 |
2 | 279 | 0.0072 | 199 | c.353 others(216): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349743 | G | GTGGGGGT others(192): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 HG03486.hp2 others(1): Show |
a0024a0071a0073others(1): Show | a0024c0041a0071c0039a0073c0040others(1): Show | a0024c0041t0001a0071c0039t0001a0073c0040t0001others(1): Show | a0024c0041t0001g0020 a0071c0039t0001g0019 a0073c0040t0001g0021 others(1): Show |
4 | 173 | 0.0231 | 199 | c.956 others(216): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LDLRAD4_chr18_13213760_13657751 | 13494662 | A | AGTGAGAC others(192): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 43 | 0.0233 | 199 | c.181 others(218): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 4/6 | chr18 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205194 | A | AACACACA others(192): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 80 | 0.0125 | 199 | c.212 others(218): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824184 | A | AATATATA others(192): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0085 | 1 | 65 | 0.0154 | 199 | c.683 others(218): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LOC122319696_chrX_149409877_149420506 | 149418487 | A | ATATATAT others(192): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 106 | 0.0189 | 199 | c.-30 others(210): Show |
LOC122319696 | ENSG00000287585.2 | transcript | ENST00000653668.2 | protein_coding | 2982 | chrX | TogoVar | |||||||
LRP1B_chr2_140226423_142136016 | 140828789 | C | CAAAAAAA others(192): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0028 | a0001c0028t0002 | a0001c0028t0002g0020 | 1 | 17 | 0.0588 | 199 | c.520 others(220): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 31/90 | chr2 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909119 | A | ATTATATA others(192): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18970.hp1 NA18998.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 |
3 | 227 | 0.0132 | 199 | c.622 others(214): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364818 | C | CCACACTC others(192): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0108 | 1 | 255 | 0.0039 | 199 | c.129 others(216): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LYAR_chr4_4262701_4295154 | 4263813 | A | ACTAACTT others(192): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 a0001c0001t0002g0117 |
2 | 379 | 0.0053 | 199 | c.*40 others(210): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 3887 | chr4 | TogoVar | |||||||
LYAR_chr4_4262701_4295154 | 4263813 | A | ACTAACTT others(192): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 378 | 0.0026 | 199 | c.*40 others(210): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 3887 | chr4 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113416469 | T | TTAATTTT others(192): Show |
intron_variant | MODIFIER | HG02647.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0180 a0001c0002t0008g0219 |
2 | 76 | 0.0263 | 199 | c.316 others(218): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579325 | C | CCACCATC others(192): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 255 | 0.0039 | 199 | c.391 others(214): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185455648 | T | TATATGAC others(192): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0214 | 1 | 129 | 0.0078 | 199 | c.127 others(218): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MBTPS1_chr16_84048763_84121942 | 84052022 | T | CGTGGGTA others(192): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 422 | 0.0024 | 199 | c.*24 others(210): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 1741 | chr16 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94464260 | T | TATATATA others(192): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0014 | a0005c0014t0045 | a0005c0014t0045g0175 | 1 | 271 | 0.0037 | 199 | c.236 others(218): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090512 | G | GCCCCGCC others(192): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0133 | 1 | 398 | 0.0025 | 199 | c.557 others(216): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT4C_chr12_85950667_86261391 | 86110268 | C | CTATATAT others(192): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0043 | a0001c0001t0001g0044 a0001c0001t0043g0039 |
2 | 42 | 0.0476 | 199 | c.-56 others(218): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543378 | G | GTGGCAAG others(192): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 283 | 0.0035 | 199 | c.153 others(216): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432834 | A | AGAGAGAG others(192): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0073 | 1 | 237 | 0.0042 | 199 | c.225 others(216): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767808 | C | CGTGGAGG others(192): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0055 | 1 | 354 | 0.0028 | 199 | c.159 others(216): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTRF1L_chr6_152982362_153007709 | 153005618 | T | TTTACCGT others(192): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 466 | 0.0021 | 199 | c.-29 others(210): Show |
MTRF1L | ENSG00000112031.16 | transcript | ENST00000367233.10 | protein_coding | 2910 | chr6 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110681088 | T | TATATTAA others(192): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0009a0001c0001t0034others(1): Show | a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0009g0161 others(3): Show |
6 | 180 | 0.0333 | 199 | c.80- others(214): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3326168 | T | TTTATAAT others(192): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 | 1 | 8 | 0.1250 | 199 | c.710 others(216): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3326168 | T | TTTATAAT others(192): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(63): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0024others(13): Show | a0001c0001t0001a0002c0002t0001a0002c0024t0001others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0071 others(52): Show |
66 | 73 | 0.9041 | 199 | c.710 others(216): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar |