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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L3MBTL4_chr18_5949717_6419911 | 6329123 | CTGTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp2 HG01981.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0020 others(21): Show |
24 | 94 | 0.2553 | -9 | c.-90 others(28): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43879809 | GGGGCGAG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(43): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0010a0001c0001t0023others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0040 others(10): Show |
46 | 456 | 0.1009 | -9 | c.-34 others(18): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 94 | chr13 | TogoVar | |||||||
LACTBL1_chr1_22948043_22977866 | 22972139 | AGATGATG others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01106.hp2 others(21): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 others(16): Show |
24 | 450 | 0.0533 | -9 | c.12+ others(22): Show |
LACTBL1 | ENSG00000215906.9 | transcript | ENST00000426928.7 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7074967 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02717.hp1 HG02723.hp1 others(8): Show |
a0024a0028a0043others(8): Show | a0024c0200a0028c0009a0043c0207others(8): Show | a0024c0200t0001a0028c0009t0002a0043c0207t0001others(8): Show | a0024c0200t0001g0257 a0028c0009t0002g0008 a0043c0207t0001g0168 others(8): Show |
11 | 278 | 0.0396 | -9 | c.345 others(26): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 3/62 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128981579 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01261.hp2 others(13): Show |
a0001a0002a0004others(8): Show | a0001c0012a0001c0067a0001c0068others(11): Show | a0001c0012t0001a0001c0067t0001a0001c0068t0003others(11): Show | a0001c0012t0001g0057 a0001c0012t0001g0074 a0001c0067t0001g0073 others(13): Show |
16 | 88 | 0.1818 | -9 | c.113 others(28): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112190938 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG02004.hp2 HG02738.hp1 NA19058.hp1 |
a0001a0010 | a0001c0001a0001c0009a0010c0029 | a0001c0001t0001a0001c0009t0001a0010c0029t0001 | a0001c0001t0001g0228 a0001c0009t0001g0072 a0010c0029t0001g0028 |
3 | 314 | 0.0096 | -9 | c.718 others(24): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 6/38 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62367030 | GCCGCGCG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG01074.hp2 HG02055.hp2 HG02451.hp2 others(5): Show |
a0005a0009a0059 | a0005c0020a0005c0021a0005c0022others(4): Show | a0005c0020t0001a0005c0021t0001a0005c0022t0001others(4): Show | a0005c0020t0001g0007 a0005c0021t0001g0008 a0005c0022t0001g0003 others(5): Show |
8 | 186 | 0.0430 | -9 | c.207 others(16): Show |
p.Ala others(11): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 1/80 | 282/11426 | 207/11088 | 69/3695 | chr20 | TogoVar | |||
LAMB1_chr7_107918799_108008161 | 107941822 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(8): Show | a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0111 others(22): Show |
25 | 364 | 0.0687 | -9 | c.339 others(28): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 24/33 | chr7 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108096939 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01515.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0029 a0001c0002t0001g0047 a0001c0002t0001g0049 others(5): Show |
8 | 292 | 0.0274 | -9 | c.136 others(28): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 11/33 | chr7 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183024331 | TGTTCCGC others(2): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG02622.hp1 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0011a0003c0004t0012others(2): Show | a0003c0004t0007g0239 a0003c0004t0007g0240 a0003c0004t0007g0241 others(8): Show |
11 | 308 | 0.0357 | -9 | c.418 others(24): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183079232 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00738.hp2 others(26): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0034a0001c0037others(6): Show | a0001c0002t0002a0001c0002t0020a0001c0002t0021others(8): Show | a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0012 others(26): Show |
29 | 308 | 0.0942 | -9 | c.419 others(28): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113301968 | TTCTCCTG others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01943.hp2 others(20): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0002a0002c0002t0016a0005c0007t0002 | a0002c0002t0002g0003 a0002c0002t0002g0021 a0002c0002t0002g0022 others(19): Show |
23 | 354 | 0.0650 | -9 | c.61+ others(24): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP2_chrX_120421148_120474296 | 120433053 | AACCCTTG others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 297 | 0.0034 | -9 | c.109 others(28): Show |
LAMP2 | ENSG00000005893.17 | transcript | ENST00000200639.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
LAMP2_chrX_120421148_120474296 | 120469183 | AGGCGGCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0251 | 1 | 297 | 0.0034 | -9 | c.-23 others(16): Show |
LAMP2 | ENSG00000005893.17 | transcript | ENST00000200639.9 | protein_coding | 1/9 | 15 | chrX | TogoVar | ||||||
LAMP3_chr3_183117215_183167734 | 183154915 | ATCTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01074.hp1 others(58): Show |
a0001a0002a0009 | a0001c0003a0001c0005a0002c0004others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0013others(3): Show | a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0112 others(56): Show |
61 | 372 | 0.1640 | -9 | c.50- others(22): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
LANCL3_chrX_37566661_37689463 | 37618404 | GCCCTTAC others(2): Show |
G | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 201 | 0.0050 | -9 | c.574 others(28): Show |
LANCL3 | ENSG00000147036.12 | transcript | ENST00000378619.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LAP3_chr4_17572198_17612970 | 17603826 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(167): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(154): Show |
170 | 300 | 0.5667 | -9 | c.118 others(26): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33699949 | ATGTCTAT others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02723.hp1 HG02970.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0007a0001c0002t0001a0001c0002t0022others(1): Show | a0001c0001t0007g0066 a0001c0002t0001g0069 a0001c0002t0022g0103 others(1): Show |
4 | 110 | 0.0364 | -9 | c.107 others(28): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33794908 | CCGTGCCC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01255.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0043 others(10): Show |
13 | 110 | 0.1182 | -9 | c.-82 others(28): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33832468 | ACAGTGCT others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02647.hp1 HG03098.hp2 |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0004a0001c0003t0009a0003c0011t0001 | a0001c0001t0004g0030 a0001c0003t0009g0016 a0003c0011t0001g0082 |
3 | 110 | 0.0273 | -9 | c.-82 others(28): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33840362 | TCTTTAAA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0072 others(9): Show |
12 | 110 | 0.1091 | -9 | c.-82 others(28): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33872359 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01099.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0044 others(34): Show |
37 | 110 | 0.3364 | -9 | c.-83 others(28): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128065326 | TCTCTCTT others(2): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG03486.hp2 NA18984.hp2 others(2): Show |
a0001a0007a0011 | a0001c0001a0007c0008a0011c0015 | a0001c0001t0003a0007c0008t0001a0011c0015t0001 | a0001c0001t0003g0128 a0001c0001t0003g0214 a0001c0001t0003g0225 others(2): Show |
5 | 336 | 0.0149 | -9 | c.-78 others(26): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128125209 | CGGGTAAA others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02896.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0041 a0002c0002t0002g0050 a0002c0002t0002g0081 others(2): Show |
5 | 336 | 0.0149 | -9 | c.152 others(28): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | chr4 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128129164 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02109.hp1 HG02280.hp2 others(5): Show |
a0002a0005a0010 | a0002c0002a0002c0003a0002c0012others(2): Show | a0002c0002t0002a0002c0002t0005a0002c0003t0006others(3): Show | a0002c0002t0002g0021 a0002c0002t0002g0329 a0002c0002t0005g0097 others(5): Show |
8 | 336 | 0.0238 | -9 | c.152 others(28): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1_chr5_154750377_154822605 | 154797218 | GTTGTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG01255.hp1 others(24): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0006 | a0001c0001t0003a0001c0001t0014a0001c0001t0016others(4): Show | a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0011 others(22): Show |
27 | 304 | 0.0888 | -9 | c.137 others(28): Show |
LARP1 | ENSG00000155506.19 | transcript | ENST00000518297.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LARP4B_chr10_804497_936705 | 833249 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00733.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(5): Show | a0001c0001t0001g0009 a0001c0001t0003g0272 a0001c0001t0003g0273 others(16): Show |
19 | 288 | 0.0660 | -9 | c.751 others(26): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
LARP4B_chr10_804497_936705 | 869904 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG01884.hp2 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0065 others(18): Show |
21 | 288 | 0.0729 | -9 | c.142 others(26): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 3/17 | chr10 | TogoVar | |||||||
LARP4B_chr10_804497_936705 | 931968 | TCCGCCCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01358.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0026others(2): Show | a0001c0001t0002g0157 a0001c0001t0007g0241 a0001c0001t0007g0242 others(7): Show |
10 | 288 | 0.0347 | -9 | c.-58 others(18): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 264 | chr10 | TogoVar | |||||||
LARP4_chr12_50395885_50485004 | 50422781 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01069.hp2 others(36): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0172 others(36): Show |
39 | 318 | 0.1226 | -9 | c.19- others(24): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146181789 | CATAAACA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show |
6 | 284 | 0.0211 | -9 | c.6+6 others(20): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 1/31 | chr5 | TogoVar | |||||||
LARS2_chr3_45383576_45554407 | 45384416 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00733.hp2 others(27): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0008others(5): Show | a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0133 others(27): Show |
30 | 242 | 0.1240 | -9 | c.-43 others(20): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 4159 | chr3 | TogoVar | |||||||
LARS2_chr3_45383576_45554407 | 45439210 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG03490.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0003t0006a0001c0004t0004 | a0001c0001t0004g0172 a0001c0003t0006g0191 a0001c0003t0006g0192 others(2): Show |
5 | 242 | 0.0207 | -9 | c.517 others(26): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LAS1L_chrX_65507582_65539787 | 65525748 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 203 | 0.0049 | -9 | c.957 others(24): Show |
LAS1L | ENSG00000001497.18 | transcript | ENST00000374811.8 | protein_coding | 7/13 | chrX | TogoVar | |||||||
LAS1L_chrX_65507582_65539787 | 65527210 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0067 |
2 | 203 | 0.0099 | -9 | c.956 others(26): Show |
LAS1L | ENSG00000001497.18 | transcript | ENST00000374811.8 | protein_coding | 7/13 | chrX | TogoVar | |||||||
LAS1L_chrX_65507582_65539787 | 65538518 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 203 | 0.0049 | -9 | c.-38 others(20): Show |
LAS1L | ENSG00000001497.18 | transcript | ENST00000374811.8 | protein_coding | 3732 | chrX | TogoVar | |||||||
LASP1_chr17_38865058_38926770 | 38905530 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0011 a0001c0001t0006g0175 a0001c0001t0006g0271 others(4): Show |
7 | 396 | 0.0177 | -9 | c.357 others(26): Show |
LASP1 | ENSG00000002834.19 | transcript | ENST00000318008.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214604 | ATATATAA others(2): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0209 a0001c0001t0001g0242 others(3): Show |
6 | 344 | 0.0174 | -9 | c.-21 others(26): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
LATS1_chr6_149653153_149723101 | 149666359 | TGTAATCC others(2): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 HG02970.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0136 a0002c0003t0007g0137 a0002c0003t0007g0138 others(4): Show |
7 | 272 | 0.0257 | -9 | c.288 others(28): Show |
LATS1 | ENSG00000131023.13 | transcript | ENST00000543571.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
LATS1_chr6_149653153_149723101 | 149706183 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02004.hp1 HG02559.hp1 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0225 others(9): Show |
12 | 272 | 0.0441 | -9 | c.-14 others(28): Show |
LATS1 | ENSG00000131023.13 | transcript | ENST00000543571.6 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969698 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp2 HG03471.hp1 NA18990.hp2 others(1): Show |
a0002a0003a0006 | a0002c0002a0003c0005a0006c0013 | a0002c0002t0003a0002c0002t0011a0003c0005t0012others(1): Show | a0002c0002t0003g0103 a0002c0002t0011g0284 a0003c0005t0012g0077 others(1): Show |
4 | 316 | 0.0127 | -9 | c.*51 others(20): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3337 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20990461 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01943.hp2 HG02145.hp2 others(7): Show |
a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0011 a0002c0006t0004g0012 a0002c0006t0004g0015 others(7): Show |
10 | 316 | 0.0317 | -9 | c.475 others(24): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21007727 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02148.hp1 others(2): Show |
a0003 | a0003c0004a0003c0005a0003c0025 | a0003c0004t0002a0003c0005t0002a0003c0005t0004others(1): Show | a0003c0004t0002g0016 a0003c0005t0002g0071 a0003c0005t0002g0072 others(2): Show |
5 | 316 | 0.0158 | -9 | c.343 others(28): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21019298 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG00741.hp1 others(49): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0017others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0209 a0001c0001t0001g0233 a0001c0001t0001g0245 others(49): Show |
52 | 316 | 0.1646 | -9 | c.342 others(28): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21023675 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0011a0002c0002a0002c0006others(6): Show | a0001c0011t0001a0002c0002t0003a0002c0002t0007others(12): Show | a0001c0011t0001g0080 a0002c0002t0003g0095 a0002c0002t0003g0096 others(39): Show |
42 | 316 | 0.1329 | -9 | c.342 others(28): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LBP_chr20_38341482_38382013 | 38356347 | GCACACAC others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01934.hp2 others(19): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0014a0004c0018others(3): Show | a0001c0001t0001a0001c0014t0001a0004c0018t0001others(4): Show | a0001c0001t0001g0267 a0001c0001t0001g0316 a0001c0014t0001g0336 others(19): Show |
22 | 394 | 0.0558 | -9 | c.588 others(24): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LBR_chr1_225396502_225433038 | 225430908 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(189): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(98): Show |
192 | 338 | 0.5681 | -9 | c.-29 others(20): Show |
LBR | ENSG00000143815.15 | transcript | ENST00000272163.9 | protein_coding | 2871 | chr1 | TogoVar | |||||||
LCA5_chr6_79479991_79542430 | 79538018 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02135.hp1 HG03195.hp2 others(5): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0001a0003c0003t0005a0004c0004t0003others(1): Show | a0003c0003t0001g0224 a0003c0003t0005g0009 a0003c0003t0005g0046 others(3): Show |
8 | 400 | 0.0200 | -9 | c.-10 others(20): Show |
LCA5 | ENSG00000135338.14 | transcript | ENST00000369846.9 | protein_coding | 589 | chr6 | TogoVar | |||||||
LCE1A_chr1_152822473_152833097 | 152832450 | AAGTCCCA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03225.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 414 | 0.0073 | -9 | c.*46 others(20): Show |
LCE1A | ENSG00000186844.6 | transcript | ENST00000335123.4 | protein_coding | 4354 | chr1 | TogoVar | |||||||
LCE6A_chr1_152837856_152848983 | 152839823 | GGAAAGGA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0001 a0001c0001t0004g0001 |
19 | 400 | 0.0475 | -9 | c.-32 others(20): Show |
LCE6A | ENSG00000235942.3 | transcript | ENST00000431011.3 | protein_coding | 3032 | chr1 | TogoVar |