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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNS_chr16_88808734_88861947 | 88823462 | GTGCCCAG others(75): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01255.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 others(23): Show |
26 | 392 | 0.0663 | -82 | c.124 others(99): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 11/13 | chr16 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154110266 | CAGAACTA others(75): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0017 | 1 | 204 | 0.0049 | -82 | c.143 others(101): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71701801 | GTGTATAT others(75): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0075 | 1 | 73 | 0.0137 | -82 | c.150 others(101): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71701818 | CATATATA others(75): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02895.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0021a0001c0002t0019 | a0001c0001t0018g0016 a0001c0001t0021g0014 a0001c0002t0019g0017 |
3 | 76 | 0.0395 | -82 | c.150 others(101): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GARIN2_chr14_67184440_67228940 | 67193187 | CATCTATC others(75): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0050 | 1 | 320 | 0.0031 | -82 | c.-11 others(101): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54880691 | TCATATAT others(75): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01069.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0047 a0001c0001t0002g0048 others(9): Show |
14 | 328 | 0.0427 | -82 | c.344 others(101): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47329487 | CCTGGGAT others(75): Show |
C | downstream_gene_variant | MODIFIER | NA18984.hp1 NA18993.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001 a0001c0001t0003g0004 |
3 | 409 | 0.0073 | -82 | c.*37 others(93): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1900 | chr10 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180296873 | ACACACAC others(75): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01928.hp2 HG01975.hp1 others(6): Show |
a0001a0002a0003 | a0001c0004a0001c0005a0001c0018others(2): Show | a0001c0004t0001a0001c0005t0021a0001c0018t0006others(3): Show | a0001c0004t0001g0044 a0001c0004t0001g0087 a0001c0004t0001g0145 others(6): Show |
9 | 410 | 0.0220 | -82 | c.*46 others(93): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3824 | chr5 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128971728 | CCCCCTCC others(75): Show |
C | intron_variant | MODIFIER | HG00323.hp2 NA18973.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0182 a0001c0001t0001g0297 a0001c0002t0009g0117 |
3 | 318 | 0.0094 | -82 | c.880 others(101): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GNAT3_chr7_80453635_80517064 | 80497594 | GTATATAC others(75): Show |
G | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 332 | 0.0030 | -82 | c.119 others(99): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GNGT2_chr17_49201237_49215574 | 49214344 | AGCTGCCC others(75): Show |
A | upstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 438 | 0.0023 | -82 | c.-41 others(93): Show |
GNGT2 | ENSG00000167083.7 | transcript | ENST00000507680.6 | protein_coding | 3771 | chr17 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132805296 | GCCCCGAG others(75): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(14): Show |
a0004a0007 | a0004c0005a0004c0034a0007c0014 | a0004c0005t0005a0004c0005t0022a0004c0034t0005others(1): Show | a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 others(14): Show |
17 | 112 | 0.1518 | -82 | c.129 others(99): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 6/23 | chr12 | TogoVar | |||||||
GOLGA4_chr3_37238271_37371879 | 37257989 | GTATATAT others(75): Show |
G | intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211 | 1 | 270 | 0.0037 | -82 | c.162 others(99): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93231315 | ATATATAT others(75): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 76 | 0.0132 | -82 | c.160 others(99): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HACL1_chr3_15555699_15606569 | 15592936 | ACGCACAT others(75): Show |
A | intron_variant | MODIFIER | HG02572.hp1 NA18981.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0137 a0001c0001t0001g0150 |
3 | 425 | 0.0071 | -82 | c.228 others(99): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 604129 | GTGGGGCT others(75): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0047 | a0001c0001t0001a0001c0002t0003a0006c0047t0003 | a0001c0001t0001g0138 a0001c0002t0003g0137 a0006c0047t0003g0002 |
4 | 406 | 0.0099 | -82 | c.105 others(99): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 604140 | GGAGATCT others(75): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(150): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(56): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(82): Show | a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0139 others(145): Show |
153 | 405 | 0.3778 | -82 | c.105 others(99): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72449197 | AGACTGGA others(75): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 206 | 0.0049 | -82 | c.100 others(103): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559445 | GGTCAGGT others(75): Show |
G | intron_variant | MODIFIER | NA18942.hp1 NA18982.hp2 NA19068.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0018a0002c0002t0109a0002c0005t0018 | a0002c0002t0018g0309 a0002c0002t0109g0320 a0002c0005t0018g0308 |
3 | 388 | 0.0077 | -82 | c.782 others(98): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35682250 | CGTGTGTG others(75): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01943.hp1 HG01952.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0307 a0002c0002t0002g0313 a0002c0002t0002g0315 others(6): Show |
9 | 315 | 0.0286 | -82 | c.148 others(99): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41527054 | ACACACAC others(75): Show |
A | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 92 | 0.0109 | -82 | c.520 others(101): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HSD17B11_chr4_87331515_87396188 | 87378823 | TATATATA others(75): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0331 | 1 | 366 | 0.0027 | -82 | c.318 others(99): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
IL31RA_chr5_55846357_55927850 | 55867245 | TTGTGTGT others(75): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01358.hp1 |
a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0294 a0001c0003t0011g0295 |
2 | 318 | 0.0063 | -82 | c.155 others(99): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL36B_chr2_113017089_113057867 | 113050926 | GCTTGAAT others(75): Show |
G | intron_variant | MODIFIER | HG00597.hp2 NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0064 a0001c0001t0002g0034 |
3 | 402 | 0.0075 | -82 | c.-58 others(99): Show |
IL36B | ENSG00000136696.11 | transcript | ENST00000259213.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
IMPA1_chr8_81651914_81691325 | 81684842 | GTAGTATA others(75): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0097 | 1 | 173 | 0.0058 | -82 | c.-25 others(99): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132758085 | CCCCATAG others(75): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0078 | 1 | 202 | 0.0050 | -82 | c.904 others(99): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5E_chr9_136423619_136444845 | 136431266 | CCCCCCCA others(75): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01433.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0023 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0012g0038 others(1): Show |
7 | 379 | 0.0185 | -82 | c.155 others(99): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
INPP5E_chr9_136423619_136444845 | 136431641 | CCCCCCCA others(75): Show |
C | intron_variant | MODIFIER | HG04228.hp2 NA18747.hp2 NA19077.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0001 a0001c0003t0003g0002 |
3 | 378 | 0.0079 | -82 | c.154 others(99): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
INSIG2_chr2_118083471_118115997 | 118093433 | AGATGATG others(75): Show |
A | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 260 | 0.0038 | -82 | c.-13 others(101): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSYN2A_chr10_127130430_127201591 | 127182765 | TCCCTGCC others(75): Show |
T | intron_variant | MODIFIER | HG00408.hp2 NA18970.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 a0001c0002t0001g0128 |
2 | 282 | 0.0071 | -82 | c.-26 others(101): Show |
INSYN2A | ENSG00000188916.9 | transcript | ENST00000522781.6 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
IQCA1_chr2_236319151_236512476 | 236491137 | ATACAGTA others(75): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0002others(1): Show | a0001c0001t0005a0001c0019t0001a0002c0002t0005others(2): Show | a0001c0001t0005g0103 a0001c0019t0001g0105 a0002c0002t0005g0110 others(2): Show |
6 | 205 | 0.0293 | -82 | c.456 others(99): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197900498 | GCAGCTCA others(75): Show |
G | intron_variant | MODIFIER | HG02080.hp1 HG02451.hp2 HG02572.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0176 a0002c0002t0001g0023 a0002c0002t0001g0064 others(13): Show |
16 | 278 | 0.0576 | -82 | c.964 others(99): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21714787 | TTATTTTA others(75): Show |
T | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 16 | 0.0625 | -82 | c.61+ others(101): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KDM4E_chr11_95020258_95032596 | 95029542 | ACATAAAG others(75): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 460 | 0.0022 | -82 | c.*24 others(93): Show |
KDM4E | ENSG00000235268.2 | transcript | ENST00000450979.2 | protein_coding | 1947 | chr11 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228780 | CCAACCAC others(75): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0336 | 1 | 394 | 0.0025 | -82 | c.64+ others(99): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 168044254 | GGGGTGCT others(75): Show |
G | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0049 | 1 | 374 | 0.0027 | -82 | c.986 others(97): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133223688 | TGTGTGTG others(75): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03209.hp1 HG03540.hp2 others(4): Show |
a0006a0007 | a0006c0010a0007c0009 | a0006c0010t0001a0006c0010t0023a0007c0009t0001 | a0006c0010t0001g0047 a0006c0010t0001g0051 a0006c0010t0001g0052 others(4): Show |
7 | 330 | 0.0212 | -82 | c.501 others(99): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KRT23_chr17_40917700_40942646 | 40942287 | TTCCTCCC others(75): Show |
T | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 435 | 0.0023 | -82 | c.-53 others(93): Show |
KRT23 | ENSG00000108244.17 | transcript | ENST00000209718.8 | protein_coding | 4642 | chr17 | TogoVar | |||||||
LAT2_chr7_74205006_74234834 | 74214519 | TATATAAA others(75): Show |
T | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 338 | 0.0030 | -82 | c.-21 others(99): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214541 | TATATATA others(75): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0004t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(39): Show |
43 | 335 | 0.1284 | -82 | c.-21 others(99): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LDHAL6A_chr11_18450856_18484601 | 18467967 | ACGTATAT others(75): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(29): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0002g0197 a0001c0001t0004g0002 a0001c0001t0004g0010 others(20): Show |
32 | 408 | 0.0784 | -82 | c.418 others(99): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
LGALS3BP_chr17_78966255_78984923 | 78975104 | CTGTAATT others(75): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG03669.hp2 |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0007c0013t0001 | a0001c0001t0001g0063 a0001c0001t0001g0066 a0007c0013t0001g0132 |
3 | 454 | 0.0066 | -82 | c.245 others(97): Show |
LGALS3BP | ENSG00000108679.13 | transcript | ENST00000262776.8 | protein_coding | 3/5 | chr17 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104430388 | ATATATAT others(75): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 74 | 0.0135 | -82 | c.445 others(103): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104430390 | ATATATAT others(75): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0010 | a0001c0001t0009g0070 a0001c0002t0010g0017 |
2 | 73 | 0.0274 | -82 | c.445 others(103): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LLGL2_chr17_75520697_75580209 | 75558837 | CCGCACCC others(75): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01884.hp1 others(16): Show |
a0002a0003a0004others(5): Show | a0002c0004a0003c0019a0004c0005others(6): Show | a0002c0004t0003a0003c0019t0002a0004c0005t0004others(6): Show | a0002c0004t0003g0332 a0003c0019t0002g0170 a0003c0019t0002g0215 others(16): Show |
19 | 380 | 0.0500 | -82 | c.371 others(97): Show |
LLGL2 | ENSG00000073350.14 | transcript | ENST00000392550.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504103 | CCAGTGCC others(75): Show |
C | intron_variant | MODIFIER | HG02165.hp1 NA19005.hp2 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0037 | 2 | 412 | 0.0049 | -82 | c.171 others(99): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LMLN_chr3_197955217_198048720 | 198038842 | ATCAGCAA others(75): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01123.hp1 HG01261.hp1 |
a0003 | a0003c0003 | a0003c0003t0025a0003c0003t0026 | a0003c0003t0025g0084 a0003c0003t0026g0083 |
2 | 256 | 0.0078 | -82 | c.*19 others(91): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 17/17 | 194 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LMOD1_chr1_201891456_201951548 | 201901608 | ATACACAT others(75): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0126 | 1 | 398 | 0.0025 | -82 | c.262 others(97): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
LMTK3_chr19_48480271_48516835 | 48493357 | CCCCGCCC others(75): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02257.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0006a0001c0014a0003c0015others(3): Show | a0001c0006t0001a0001c0014t0001a0003c0015t0001others(3): Show | a0001c0006t0001g0029 a0001c0006t0001g0182 a0001c0006t0001g0184 others(8): Show |
13 | 312 | 0.0417 | -82 | c.409 others(99): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
LNPEP_chr5_96931080_97042513 | 96989319 | ATAATATA others(75): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0009 | a0009c0014 | a0009c0014t0003 | a0009c0014t0003g0268 | 1 | 350 | 0.0029 | -82 | c.113 others(101): Show |
LNPEP | ENSG00000113441.16 | transcript | ENST00000231368.10 | protein_coding | 4/17 | chr5 | TogoVar |