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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LAMA5_chr20_62304065_62372312 | 62318297 | AGGGGGGG others(14): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02615.hp2 others(1): Show |
a0005a0053a0065others(1): Show | a0005c0024a0053c0066a0065c0032others(1): Show | a0005c0024t0001a0053c0066t0001a0065c0032t0001others(1): Show | a0005c0024t0001g0006 a0053c0066t0001g0016 a0065c0032t0001g0178 others(1): Show |
4 | 177 | 0.0226 | -21 | c.723 others(38): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62323235 | GGGCCTGA others(14): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG02897.hp1 |
a0002a0074 | a0002c0003a0074c0123 | a0002c0003t0001a0074c0123t0001 | a0002c0003t0001g0123 a0074c0123t0001g0082 |
2 | 184 | 0.0109 | -21 | c.606 others(38): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 45/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62337169 | CGCGATAC others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(30): Show |
a0001a0002a0007others(20): Show | a0001c0007a0002c0013a0002c0081others(24): Show | a0001c0007t0001a0002c0013t0001a0002c0081t0001others(24): Show | a0001c0007t0001g0084 a0001c0007t0001g0144 a0001c0007t0001g0148 others(30): Show |
33 | 184 | 0.1793 | -21 | c.216 others(38): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 16/79 | chr20 | TogoVar | |||||||
LAMP1_chr13_113292239_113328672 | 113301637 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 352 | 0.0028 | -21 | c.61+ others(36): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113301639 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02258.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0004c0004t0004 | a0001c0001t0001g0011 a0001c0001t0003g0008 a0001c0001t0003g0021 others(5): Show |
9 | 307 | 0.0293 | -21 | c.61+ others(36): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113301641 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02451.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0001c0001t0014a0004c0004t0004 | a0001c0001t0004g0065 a0001c0001t0004g0073 a0001c0001t0004g0074 others(4): Show |
7 | 290 | 0.0241 | -21 | c.61+ others(36): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP3_chr3_183117215_183167734 | 183149561 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0244 a0001c0001t0009g0019 |
3 | 345 | 0.0087 | -21 | c.888 others(38): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149567 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0039 | 1 | 370 | 0.0027 | -21 | c.888 others(38): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149573 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0297 | 1 | 355 | 0.0028 | -21 | c.888 others(38): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33508043 | TTCCCTTT others(14): Show |
T | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 108 | 0.0093 | -21 | c.787 others(40): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33556509 | AGGAAGGA others(14): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0075 | 1 | 108 | 0.0093 | -21 | c.787 others(38): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33747982 | GCTGTGTG others(14): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0004 | a0001c0001t0006g0065 a0001c0006t0004g0064 |
2 | 108 | 0.0185 | -21 | c.106 others(40): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LARGE2_chr11_45917656_45934096 | 45923985 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 60 | 0.0167 | -21 | c.369 others(36): Show |
LARGE2 | ENSG00000165905.18 | transcript | ENST00000401752.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128073572 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0098 | 1 | 206 | 0.0049 | -21 | c.-77 others(36): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP4B_chr10_804497_936705 | 869904 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 39 | 0.0256 | -21 | c.142 others(38): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 3/17 | chr10 | TogoVar | |||||||
LARP4_chr12_50395885_50485004 | 50422781 | ATATTATT others(14): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 |
3 | 49 | 0.0612 | -21 | c.19- others(36): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74232621 | CTTTGGGA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 342 | 0.0029 | -21 | c.*36 others(32): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 2788 | chr7 | TogoVar | |||||||
LATS1_chr6_149653153_149723101 | 149706183 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03225.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0043 a0001c0002t0003g0044 |
2 | 17 | 0.1176 | -21 | c.-14 others(40): Show |
LATS1 | ENSG00000131023.13 | transcript | ENST00000543571.6 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969694 | AAAAATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0299 | 1 | 307 | 0.0033 | -21 | c.*51 others(32): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3341 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969696 | AAATATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp2 NA18971.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0007a0003c0003t0004 | a0002c0002t0007g0141 a0003c0003t0004g0298 |
2 | 292 | 0.0068 | -21 | c.*51 others(32): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3339 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969698 | ATATATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00735.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(10): Show | a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 others(34): Show |
37 | 237 | 0.1561 | -21 | c.*51 others(32): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3337 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21019298 | GTTATTAT others(14): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 |
a0008 | a0008c0018 | a0008c0018t0010 | a0008c0018t0010g0067 a0008c0018t0010g0068 |
2 | 27 | 0.0741 | -21 | c.342 others(40): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LAX1_chr1_203760183_203781372 | 203769442 | AAGGAAAG others(14): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024 | a0001c0001t0003g0237 a0001c0001t0024g0262 |
2 | 338 | 0.0059 | -21 | c.90- others(36): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAYN_chr11_111535720_111566745 | 111564655 | CACACACA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 HG03942.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0029 |
3 | 296 | 0.0101 | -21 | c.*41 others(32): Show |
LAYN | ENSG00000204381.12 | transcript | ENST00000375614.7 | protein_coding | 2911 | chr11 | TogoVar | |||||||
LBP_chr20_38341482_38382013 | 38365706 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0006 | 1 | 388 | 0.0026 | -21 | c.921 others(36): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LCOR_chr10_96827298_97000956 | 96891530 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0025 | 1 | 21 | 0.0476 | -21 | c.-32 others(42): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LDB1_chr10_102101489_102125368 | 102106541 | CAAAAAAA others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19065.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0058 | a0001c0001t0039g0059 a0001c0001t0058g0094 |
2 | 25 | 0.0800 | -21 | c.*15 others(32): Show |
LDB1 | ENSG00000198728.11 | transcript | ENST00000673968.1 | protein_coding | 11/11 | 1531 | chr10 | TogoVar | ||||||
LDB2_chr4_16496541_16903645 | 16570462 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0147 a0001c0001t0001g0148 others(4): Show |
7 | 31 | 0.2258 | -21 | c.615 others(40): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16581991 | GGGAAGGA others(14): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 143 | 0.0070 | -21 | c.615 others(38): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
LDHAL6B_chr15_59201843_59213588 | 59213136 | TTTATTAT others(14): Show |
T | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 144 | 0.0069 | -21 | c.*50 others(32): Show |
LDHAL6B | ENSG00000171989.6 | transcript | ENST00000307144.6 | protein_coding | 4549 | chr15 | TogoVar | |||||||
LDLRAD4_chr18_13213760_13657751 | 13446895 | GCCTCGGG others(14): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01192.hp1 HG03704.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0116 a0001c0001t0001g0167 others(10): Show |
13 | 176 | 0.0739 | -21 | c.181 others(38): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13610265 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0053 a0001c0001t0008g0108 a0001c0001t0008g0174 |
3 | 117 | 0.0256 | -21 | c.182 others(40): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13610285 | TTTTTTTT others(14): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 176 | 0.0057 | -21 | c.182 others(40): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 4/6 | chr18 | TogoVar | |||||||
LDLR_chr19_11084463_11138820 | 11101449 | TTGTTTTT others(14): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0133 | 1 | 356 | 0.0028 | -21 | c.190 others(38): Show |
LDLR | ENSG00000130164.15 | transcript | ENST00000558518.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LEFTY1_chr1_225881282_225894146 | 225888338 | AGGCTGCA others(14): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 452 | 0.0022 | -21 | c.251 others(36): Show |
LEFTY1 | ENSG00000243709.1 | transcript | ENST00000272134.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
LEMD2_chr6_33766213_33794130 | 33787226 | TAAAGCAT others(14): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0028 a0001c0001t0003g0042 |
17 | 398 | 0.0427 | -21 | c.737 others(36): Show |
LEMD2 | ENSG00000161904.13 | transcript | ENST00000293760.10 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
LEP_chr7_128236278_128262629 | 128258713 | CTTTCTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG03017.hp2 NA18993.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0006 a0001c0002t0005g0051 |
2 | 359 | 0.0056 | -21 | c.*39 others(32): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 1085 | chr7 | TogoVar | |||||||
LEXM_chr1_54801063_54847252 | 54814412 | AAGCAGGC others(14): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0190 | 1 | 380 | 0.0026 | -21 | c.924 others(36): Show |
LEXM | ENSG00000162398.12 | transcript | ENST00000371273.4 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGALS12_chr11_63501084_63521772 | 63501881 | CTCAAACT others(14): Show |
C | upstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 434 | 0.0023 | -21 | c.-45 others(32): Show |
LGALS12 | ENSG00000133317.16 | transcript | ENST00000394618.9 | protein_coding | 4202 | chr11 | TogoVar | |||||||
LGALS2_chr22_37565248_37585087 | 37568401 | CCAGCGCC others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(154): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(57): Show |
157 | 458 | 0.3428 | -21 | c.*18 others(32): Show |
LGALS2 | ENSG00000100079.7 | transcript | ENST00000215886.6 | protein_coding | 1846 | chr22 | TogoVar | |||||||
LGALS2_chr22_37565248_37585087 | 37568406 | GCCTGCTG others(14): Show |
G | downstream_gene_variant | MODIFIER | NA18975.hp1 NA19011.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 3 | 458 | 0.0066 | -21 | c.*18 others(32): Show |
LGALS2 | ENSG00000100079.7 | transcript | ENST00000215886.6 | protein_coding | 1841 | chr22 | TogoVar | |||||||
LGALS9C_chr17_18471789_18499945 | 18487801 | GGGCCCAG others(14): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG02451.hp2 HG02922.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0084 a0003c0004t0001g0127 a0003c0004t0001g0128 others(1): Show |
4 | 290 | 0.0138 | -21 | c.444 others(34): Show |
LGALS9C | ENSG00000171916.17 | transcript | ENST00000328114.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LGI1_chr10_93752936_93803159 | 93767344 | CCTGAAAG others(14): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 374 | 0.0027 | -21 | c.287 others(38): Show |
LGI1 | ENSG00000108231.14 | transcript | ENST00000371418.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LGMN_chr14_92698809_92753627 | 92719239 | ACCACCGC others(14): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0388 | 1 | 407 | 0.0025 | -21 | c.139 others(36): Show |
LGMN | ENSG00000100600.15 | transcript | ENST00000334869.9 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
LGMN_chr14_92698809_92753627 | 92719248 | ACCACCAC others(14): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01358.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0014t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0142 others(31): Show |
34 | 408 | 0.0833 | -21 | c.139 others(36): Show |
LGMN | ENSG00000100600.15 | transcript | ENST00000334869.9 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
LGMN_chr14_92698809_92753627 | 92719251 | ACCACCAC others(14): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02145.hp1 NA18965.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0058 a0001c0001t0001g0336 a0002c0003t0001g0083 others(1): Show |
4 | 282 | 0.0142 | -21 | c.139 others(36): Show |
LGMN | ENSG00000100600.15 | transcript | ENST00000334869.9 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
LGMN_chr14_92698809_92753627 | 92719281 | GCCGCCGC others(14): Show |
G | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 412 | 0.0024 | -21 | c.139 others(36): Show |
LGMN | ENSG00000100600.15 | transcript | ENST00000334869.9 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
LGMN_chr14_92698809_92753627 | 92719318 | CCGCCGCC others(14): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0164 | 1 | 418 | 0.0024 | -21 | c.139 others(36): Show |
LGMN | ENSG00000100600.15 | transcript | ENST00000334869.9 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104343512 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01123.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0080 a0001c0001t0003g0030 a0001c0001t0005g0005 others(13): Show |
16 | 20 | 0.8000 | -21 | c.445 others(40): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104400104 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0057 | 1 | 2 | 0.5000 | -21 | c.445 others(40): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |