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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LARGE1_chr22_33267509_33925476 | 33762213 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01070.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0043 others(25): Show |
28 | 110 | 0.2546 | -13 | c.-82 others(28): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33837336 | CACATATA others(6): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0095 | 1 | 110 | 0.0091 | -13 | c.-82 others(32): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33852871 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01346.hp2 HG02148.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(4): Show | a0001c0001t0001g0012 a0001c0001t0002g0088 a0001c0001t0023g0090 others(5): Show |
8 | 110 | 0.0727 | -13 | c.-83 others(32): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33854212 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0016 | 1 | 110 | 0.0091 | -13 | c.-83 others(32): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33872355 | CTATCTAT others(6): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0001t0033a0001c0002t0006others(1): Show | a0001c0001t0006g0007 a0001c0001t0033g0110 a0001c0002t0006g0080 others(1): Show |
4 | 110 | 0.0364 | -13 | c.-83 others(32): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE2_chr11_45917656_45934096 | 45923985 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01516.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007 a0001c0002t0001g0007 a0001c0002t0001g0034 others(2): Show |
18 | 418 | 0.0431 | -13 | c.369 others(28): Show |
LARGE2 | ENSG00000165905.18 | transcript | ENST00000401752.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128113893 | TCTCCTGC others(6): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061 | 1 | 336 | 0.0030 | -13 | c.989 others(28): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128126113 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp2 others(118): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0004a0006c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(118): Show |
121 | 336 | 0.3601 | -13 | c.152 others(32): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128129164 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18973.hp2 NA18979.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047 a0002c0002t0002g0116 |
2 | 336 | 0.0060 | -13 | c.152 others(32): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP4B_chr10_804497_936705 | 805385 | AGGCCGAC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0014 | 1 | 288 | 0.0035 | -13 | c.*75 others(24): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 4111 | chr10 | TogoVar | |||||||
LARP4B_chr10_804497_936705 | 833249 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0163 |
2 | 288 | 0.0069 | -13 | c.751 others(30): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
LARP4B_chr10_804497_936705 | 900420 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02647.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0017 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(8): Show |
11 | 288 | 0.0382 | -13 | c.-39 others(32): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
LARP4_chr12_50395885_50485004 | 50426717 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 318 | 0.0031 | -13 | c.19- others(28): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
LARP4_chr12_50395885_50485004 | 50436110 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03225.hp2 |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0108 a0001c0006t0007g0109 |
2 | 318 | 0.0063 | -13 | c.535 others(28): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP7_chr4_112632143_112662586 | 112660917 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 2 | 420 | 0.0048 | -13 | c.*35 others(24): Show |
LARP7 | ENSG00000174720.18 | transcript | ENST00000344442.10 | protein_coding | 3332 | chr4 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146181848 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0193 a0002c0002t0002g0278 a0002c0002t0002g0279 |
3 | 284 | 0.0106 | -13 | c.6+6 others(24): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 1/31 | chr5 | TogoVar | |||||||
LAS1L_chrX_65507582_65539787 | 65527210 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 203 | 0.0049 | -13 | c.956 others(30): Show |
LAS1L | ENSG00000001497.18 | transcript | ENST00000374811.8 | protein_coding | 7/13 | chrX | TogoVar | |||||||
LASP1_chr17_38865058_38926770 | 38868437 | GCCTCTTC others(6): Show |
G | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0359 | 1 | 396 | 0.0025 | -13 | c.-17 others(24): Show |
LASP1 | ENSG00000002834.19 | transcript | ENST00000318008.11 | protein_coding | 1620 | chr17 | TogoVar | |||||||
LATS1_chr6_149653153_149723101 | 149706183 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0253 | 1 | 272 | 0.0037 | -13 | c.-14 others(32): Show |
LATS1 | ENSG00000131023.13 | transcript | ENST00000543571.6 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
LATS1_chr6_149653153_149723101 | 149709668 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0118 | 1 | 272 | 0.0037 | -13 | c.-14 others(32): Show |
LATS1 | ENSG00000131023.13 | transcript | ENST00000543571.6 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
LATS1_chr6_149653153_149723101 | 149719245 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 272 | 0.0037 | -13 | c.-15 others(24): Show |
LATS1 | ENSG00000131023.13 | transcript | ENST00000543571.6 | protein_coding | 1145 | chr6 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969698 | ATATATAT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03017.hp2 NA18942.hp2 NA19058.hp1 others(2): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0025 | a0001c0001t0010a0002c0002t0003a0011c0025t0003 | a0001c0001t0010g0099 a0002c0002t0003g0104 a0002c0002t0003g0140 others(2): Show |
5 | 316 | 0.0158 | -13 | c.*51 others(24): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3337 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20993035 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0007 | a0003c0007t0036 | a0003c0007t0036g0051 | 1 | 316 | 0.0032 | -13 | c.343 others(30): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21007575 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 316 | 0.0032 | -13 | c.343 others(32): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21023671 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01243.hp1 NA19240.hp2 |
a0004a0005 | a0004c0019a0005c0012 | a0004c0019t0020a0005c0012t0002 | a0004c0019t0020g0305 a0005c0012t0002g0028 |
2 | 316 | 0.0063 | -13 | c.342 others(32): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LBH_chr2_30226534_30265028 | 30249347 | CTTGGCAG others(6): Show |
C | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 396 | 0.0025 | -13 | c.130 others(30): Show |
LBH | ENSG00000213626.13 | transcript | ENST00000395323.9 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
LBP_chr20_38341482_38382013 | 38365710 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0293 | 1 | 394 | 0.0025 | -13 | c.921 others(28): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LBX2_chr2_74492517_74504603 | 74496147 | CTCCCTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 5 | 358 | 0.0140 | -13 | c.*17 others(24): Show |
LBX2 | ENSG00000179528.16 | transcript | ENST00000377566.9 | protein_coding | 1369 | chr2 | TogoVar | |||||||
LCA5L_chr21_39400728_39450778 | 39428598 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0287 | 1 | 340 | 0.0029 | -13 | c.-10 others(27): Show |
LCA5L | ENSG00000157578.14 | transcript | ENST00000288350.8 | protein_coding | 4/10 | chr21 | TogoVar | |||||||
LCA5_chr6_79479991_79542430 | 79538018 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01516.hp2 HG01975.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0052 others(10): Show |
13 | 400 | 0.0325 | -13 | c.-10 others(24): Show |
LCA5 | ENSG00000135338.14 | transcript | ENST00000369846.9 | protein_coding | 589 | chr6 | TogoVar | |||||||
LCE2A_chr1_152693345_152704442 | 152699774 | CTCTTCAT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 95 | 406 | 0.2340 | -13 | c.*55 others(22): Show |
LCE2A | ENSG00000187173.4 | transcript | ENST00000368779.2 | protein_coding | 333 | chr1 | TogoVar | |||||||
LCLAT1_chr2_30442246_30649225 | 30521489 | CTTCTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp1 others(59): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0002a0002c0002t0009a0002c0002t0010others(15): Show | a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 others(58): Show |
62 | 366 | 0.1694 | -13 | c.-4- others(28): Show |
LCLAT1 | ENSG00000172954.14 | transcript | ENST00000379509.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LCMT1_chr16_25106742_25183228 | 25123600 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 348 | 0.0029 | -13 | c.114 others(30): Show |
LCMT1 | ENSG00000205629.12 | transcript | ENST00000399069.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LCMT1_chr16_25106742_25183228 | 25176550 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 348 | 0.0029 | -13 | c.983 others(30): Show |
LCMT1 | ENSG00000205629.12 | transcript | ENST00000399069.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LCMT1_chr16_25106742_25183228 | 25181263 | GAAAAAAA others(6): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0334 |
2 | 348 | 0.0058 | -13 | c.*32 others(24): Show |
LCMT1 | ENSG00000205629.12 | transcript | ENST00000399069.8 | protein_coding | 3036 | chr16 | TogoVar | |||||||
LCMT2_chr15_43318649_43335573 | 43326034 | ATTTTTTT others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG03017.hp1 |
a0001 | a0001c0002 | a0001c0002t0047a0001c0002t0048 | a0001c0002t0047g0000 a0001c0002t0048g0000 |
2 | 410 | 0.0049 | -13 | c.*23 others(24): Show |
LCMT2 | ENSG00000168806.8 | transcript | ENST00000305641.7 | protein_coding | 1/1 | 2382 | chr15 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136766654 | GCCAAGCG others(6): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 356 | 0.0028 | -13 | c.-21 others(24): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 2137 | chr9 | TogoVar | |||||||
LCORL_chr4_17836187_18026755 | 17897213 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0005 | a0004c0005t0031 | a0004c0005t0031g0284 | 1 | 292 | 0.0034 | -13 | c.683 others(32): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
LCORL_chr4_17836187_18026755 | 18021808 | GGGCGCGA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01123.hp2 others(2): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0013 | a0001c0001t0036a0002c0002t0002a0013c0013t0002 | a0001c0001t0036g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 others(2): Show |
5 | 292 | 0.0171 | -13 | c.-70 others(20): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 54 | chr4 | TogoVar | |||||||
LCOR_chr10_96827298_97000956 | 96877598 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA18980.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0253 a0001c0001t0006g0244 |
2 | 288 | 0.0069 | -13 | c.-32 others(34): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LCOR_chr10_96827298_97000956 | 96891530 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0033 | 1 | 288 | 0.0035 | -13 | c.-32 others(34): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LCP1_chr13_46120923_46187177 | 46145908 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 382 | 0.0026 | -13 | c.117 others(30): Show |
LCP1 | ENSG00000136167.15 | transcript | ENST00000323076.7 | protein_coding | 10/15 | chr13 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66566759 | CTTTCTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 | 1 | 434 | 0.0023 | -13 | c.-93 others(22): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 762 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568875 | CATATATA others(6): Show |
C | upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 434 | 0.0023 | -13 | c.-30 others(24): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2878 | chr15 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135785690 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG03209.hp2 |
a0005 | a0005c0020 | a0005c0020t0001 | a0005c0020t0001g0025 a0005c0020t0001g0027 |
2 | 366 | 0.0055 | -13 | c.*26 others(24): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 2159 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135836012 | ATATGTAT others(6): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG04199.hp2 |
a0001 | a0001c0019 | a0001c0019t0004 | a0001c0019t0004g0045 a0001c0019t0004g0046 |
2 | 366 | 0.0055 | -13 | c.640 others(28): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LDAH_chr2_20679031_20828101 | 20811367 | CTAATCTC others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0003g0200 others(7): Show |
10 | 258 | 0.0388 | -13 | c.-2- others(28): Show |
LDAH | ENSG00000118961.15 | transcript | ENST00000237822.8 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
LDB1_chr10_102101489_102125368 | 102106541 | CAAAAAAA others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0063 | a0001c0001t0061g0182 a0001c0001t0063g0134 |
2 | 376 | 0.0053 | -13 | c.*15 others(24): Show |
LDB1 | ENSG00000198728.11 | transcript | ENST00000673968.1 | protein_coding | 11/11 | 1539 | chr10 | TogoVar | ||||||
LDB2_chr4_16496541_16903645 | 16563429 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 162 | 0.0062 | -13 | c.615 others(32): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16570462 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02897.hp1 HG02897.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0008 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0032 others(5): Show |
8 | 162 | 0.0494 | -13 | c.615 others(32): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 5/7 | chr4 | TogoVar |