regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HTR5A_chr7_155065324_155092392 | 155089434 | TGGGTGGG others(46): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01168.hp1 HG04204.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 3 | 430 | 0.0070 | -53 | c.*49 others(64): Show |
HTR5A | ENSG00000157219.5 | transcript | ENST00000287907.3 | protein_coding | 2043 | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322040 | TACGTATA others(46): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0003a0002c0002t0002a0002c0002t0016others(2): Show | a0001c0001t0003g0032a0001c0001t0003g0173a0001c0001t0003g0176others(24): Show | 29 | 323 | 0.0898 | -53 | c.-30 others(64): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2929 | chr21 | TogoVar | ||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(46): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00738.hp2 others(4): Show |
a0001a0003a0024others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0006a0001c0002t0015a0001c0004t0065others(3): Show | a0001c0001t0006g0308a0001c0002t0015g0127a0001c0002t0015g0163others(4): Show | 7 | 310 | 0.0226 | -53 | c.684 others(72): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | ||||||
IL23R_chr1_67161454_67264979 | 67263577 | TTTCAAAA others(46): Show |
T | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0001 | 1 | 290 | 0.0035 | -53 | c.*44 others(64): Show |
IL23R | ENSG00000162594.17 | transcript | ENST00000347310.10 | protein_coding | 3599 | chr1 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367144 | GGGTGAGC others(46): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 115 | 0.0087 | -53 | c.874 others(70): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132704869 | AGCAGGCA others(46): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(4): Show | a0001c0001t0001g0054a0001c0001t0001g0114a0001c0001t0001g0126others(39): Show | 42 | 204 | 0.2059 | -53 | c.475 others(70): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132771725 | CAGACACT others(46): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 204 | 0.0049 | -53 | c.977 others(70): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15229948 | TTATATAT others(46): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0238 | 1 | 270 | 0.0037 | -53 | c.117 others(72): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
INSC_chr11_15109923_15252208 | 15229970 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 270 | 0.0037 | -53 | c.117 others(72): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | chr11 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154357918 | TAATATAT others(46): Show |
T | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 264 | 0.0038 | -53 | c.-13 others(64): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1116 | chr6 | TogoVar | ||||||
IQCH_chr15_67249786_67506804 | 67505064 | CGACAGCA others(46): Show |
C | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 276 | 0.0036 | -53 | c.*43 others(64): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 3261 | chr15 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76496702 | CTCTTTCT others(46): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0085 | 1 | 222 | 0.0045 | -53 | c.146 others(72): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37511999 | TTTTCTTT others(46): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01255.hp2 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0073a0001c0001t0001g0125a0001c0001t0002g0043others(12): Show | 15 | 168 | 0.0893 | -53 | c.898 others(70): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37512112 | CCTTCCTT others(46): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0021 | a0001c0001t0004g0026a0001c0001t0021g0037 | 2 | 168 | 0.0119 | -53 | c.898 others(70): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512113 | CTTCCTTC others(46): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 168 | 0.0060 | -53 | c.898 others(70): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITSN1_chr21_33637501_33904861 | 33876194 | TTTCTCCT others(46): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00741.hp1 others(74): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(60): Show | a0001c0001t0002g0120a0001c0001t0003g0072a0001c0001t0006g0196others(74): Show | 77 | 242 | 0.3182 | -53 | c.434 others(70): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAG1_chr20_10632684_10678999 | 10663145 | GCCAAGAC others(46): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0325 | 1 | 412 | 0.0024 | -53 | c.439 others(68): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 3/25 | chr20 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6067609 | CCCCCCTG others(46): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 233 | 0.0043 | -53 | c.130 others(72): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132103403 | TGGGGGAG others(46): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02630.hp1 others(3): Show |
a0001a0002 | a0001c0006a0001c0022a0002c0010others(1): Show | a0001c0006t0017a0001c0022t0002a0002c0010t0009others(1): Show | a0001c0006t0017g0154a0001c0022t0002g0080a0002c0010t0009g0086others(3): Show | 6 | 158 | 0.0380 | -53 | c.-13 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132149760 | CCCCGCCC others(46): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0040 | 1 | 158 | 0.0063 | -53 | c.194 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132149775 | CCCCTGCC others(46): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00597.hp1 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0015a0001c0040others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0038others(23): Show | a0001c0001t0002g0132a0001c0001t0004g0127a0001c0001t0038g0014others(35): Show | 38 | 158 | 0.2405 | -53 | c.194 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160033 | CCTCTTCC others(46): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01258.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0042others(6): Show | a0001c0001t0003a0001c0001t0008a0001c0006t0035others(8): Show | a0001c0001t0003g0097a0001c0001t0008g0100a0001c0001t0008g0142others(13): Show | 16 | 158 | 0.1013 | -53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160353 | TCCTGTGT others(46): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03098.hp1 |
a0001a0002 | a0001c0019a0002c0029 | a0001c0019t0015a0002c0029t0015 | a0001c0019t0015g0085a0002c0029t0015g0053 | 2 | 158 | 0.0127 | -53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160957 | CCTGTGTG others(46): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01258.hp1 |
a0005 | a0005c0012 | a0005c0012t0007 | a0005c0012t0007g0047a0005c0012t0007g0048a0005c0012t0007g0050 | 3 | 158 | 0.0190 | -53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132161439 | TGGGGAGC others(46): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG03041.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0082a0001c0006t0003g0083 | 2 | 158 | 0.0127 | -53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15245410 | GGAGGGGA others(46): Show |
G | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0150 | 1 | 284 | 0.0035 | -53 | c.-11 others(64): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 658 | chr6 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1974423 | TCCCGGGG others(46): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0322 | 1 | 389 | 0.0026 | -53 | c.-90 others(70): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79893392 | CTTCATTG others(46): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293a0001c0001t0001g0299 | 2 | 312 | 0.0064 | -53 | c.625 others(70): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 21528739 | GAAAGAAA others(46): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 80 | 0.0125 | -53 | c.61+ others(72): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135626768 | CACTCCAA others(46): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(109): Show | 113 | 342 | 0.3304 | -53 | c.891 others(72): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6429045 | TATATTAT others(46): Show |
T | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0048 | 1 | 386 | 0.0026 | -53 | c.-43 others(64): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4235 | chr19 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997237 | GGTCGGGG others(46): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0037 | 1 | 375 | 0.0027 | -53 | c.-22 others(64): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 433 | chr6 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168003438 | AGACCAGG others(46): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA18906.hp1 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0042a0007c0009t0043 | a0001c0001t0042g0260a0007c0009t0043g0259 | 2 | 375 | 0.0053 | -53 | c.-25 others(69): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLF12_chr13_73681089_74139404 | 73809493 | CTAAACCT others(46): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01175.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0053a0001c0001t0001g0090a0001c0001t0002g0008others(34): Show | 37 | 120 | 0.3083 | -53 | c.806 others(70): Show |
KLF12 | ENSG00000118922.19 | transcript | ENST00000703967.1 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
KNG1_chr3_186712359_186749410 | 186740987 | TTGTTGTT others(46): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 430 | 0.0023 | -53 | c.112 others(70): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KRTAP1-1_chr17_41035541_41046450 | 41035695 | CTTTCTTT others(46): Show |
C | downstream_gene_variant | MODIFIER | HG02698.hp2 HG06807.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000a0002c0002t0001g0000 | 3 | 403 | 0.0074 | -53 | c.*51 others(64): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 4845 | chr17 | TogoVar | ||||||
KRTAP1-1_chr17_41035541_41046450 | 41035699 | CTTTCTTT others(46): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 403 | 0.0025 | -53 | c.*51 others(64): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 4841 | chr17 | TogoVar | ||||||
KRTAP1-3_chr17_41028884_41039874 | 41035695 | CTTTCTTT others(46): Show |
C | upstream_gene_variant | MODIFIER | HG02698.hp2 HG06807.hp1 NA18906.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0010a0003c0003t0009 | a0002c0002t0010g0000a0003c0003t0009g0000 | 3 | 435 | 0.0069 | -53 | c.-92 others(62): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 822 | chr17 | TogoVar | ||||||
KRTAP1-3_chr17_41028884_41039874 | 41035699 | CTTTCTTT others(46): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 435 | 0.0023 | -53 | c.-93 others(62): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 826 | chr17 | TogoVar | ||||||
KRTAP16-1_chr17_41302700_41314309 | 41310336 | AGAAAAGA others(46): Show |
A | upstream_gene_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 421 | 0.0024 | -53 | c.-11 others(64): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1028 | chr17 | TogoVar | ||||||
KRTAP17-1_chr17_41309912_41320710 | 41310336 | AGAAAAGA others(46): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 413 | 0.0024 | -53 | c.*49 others(64): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4575 | chr17 | TogoVar | ||||||
LAMA1_chr18_6936742_7122797 | 7073837 | TGTGTGTG others(46): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(125): Show |
a0001a0002a0003others(53): Show | a0001c0001a0001c0002a0001c0004others(91): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(98): Show | a0001c0001t0001g0141a0001c0001t0001g0146a0001c0001t0001g0163others(125): Show | 128 | 278 | 0.4604 | -53 | c.345 others(70): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 3/62 | chr18 | TogoVar | ||||||
LATS2_chr13_20968036_21066586 | 20969622 | TGAGCCCA others(46): Show |
T | downstream_gene_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0138 | 1 | 316 | 0.0032 | -53 | c.*51 others(64): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3413 | chr13 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36202638 | GTAAGTCC others(46): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0128a0001c0002t0003g0133 | 2 | 236 | 0.0085 | -53 | c.455 others(72): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LETM1_chr4_1806479_1861156 | 1829133 | ACCTCCCG others(46): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0087a0001c0001t0002g0088a0001c0001t0005g0004others(2): Show | 6 | 200 | 0.0300 | -53 | c.108 others(72): Show |
LETM1 | ENSG00000168924.15 | transcript | ENST00000302787.3 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
LHFPL2_chr5_78480230_78653772 | 78592621 | TACACACA others(46): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0241 | 1 | 254 | 0.0039 | -53 | c.-24 others(74): Show |
LHFPL2 | ENSG00000145685.14 | transcript | ENST00000380345.7 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
LHFPL2_chr5_78480230_78653772 | 78592731 | CACACACA others(46): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0125 | 1 | 254 | 0.0039 | -53 | c.-24 others(74): Show |
LHFPL2 | ENSG00000145685.14 | transcript | ENST00000380345.7 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
LMAN2_chr5_177326567_177356668 | 177326816 | AGAAAGAA others(46): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 376 | 0.0027 | -53 | c.*52 others(64): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4750 | chr5 | TogoVar | ||||||
LOC122539214_chr19_52645447_52695496 | 52687607 | ATATAATG others(46): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0007 | a0007c0006 | a0007c0006t0012 | a0007c0006t0012g0278 | 1 | 452 | 0.0022 | -53 | c.-20 others(70): Show |
LOC122539214 | ENSG00000269825.3 | transcript | ENST00000598322.3 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
LOC128125818_chr4_6059977_6075162 | 6067609 | CCCCCCTG others(46): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0134a0001c0001t0000g0213 | 2 | 462 | 0.0043 | -53 | c.106 others(70): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 1/1 | chr4 | TogoVar |