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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KSR2_chr12_117448012_117973990 | 117947178 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0014 | a0001c0014t0072 | a0001c0014t0072g0064 | 1 | 196 | 0.0051 | -18 | c.180 others(37): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55647398 | GCTGAGGC others(11): Show |
G | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 314 | 0.0032 | -18 | c.220 others(35): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 19/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128830632 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00621.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(72): Show |
76 | 326 | 0.2331 | -18 | c.*29 others(29): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 2309 | chr9 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 143042583 | GATATATA others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0128a0001c0001t0129others(2): Show | a0001c0001t0008g0180 a0001c0001t0008g0182 a0001c0001t0008g0185 others(6): Show |
9 | 332 | 0.0271 | -18 | c.*44 others(27): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 14/14 | 442 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KY_chr3_134594923_134656022 | 134650627 | GCTGCGCG others(11): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0206 | 1 | 294 | 0.0034 | -18 | c.136 others(33): Show |
KY | ENSG00000174611.12 | transcript | ENST00000423778.7 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
L1TD1_chr1_62189849_62217328 | 62197397 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0031 | 1 | 414 | 0.0024 | -18 | c.-11 others(35): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205373 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG01255.hp1 NA18943.hp2 NA18957.hp2 others(9): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0009 | a0002c0002t0003a0003c0003t0004a0009c0009t0010 | a0002c0002t0003g0017 a0002c0002t0003g0201 a0003c0003t0004g0007 others(7): Show |
12 | 414 | 0.0290 | -18 | c.-11 others(37): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L2HGDH_chr14_50237434_50317229 | 50249882 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0093 others(1): Show |
4 | 360 | 0.0111 | -18 | c.119 others(37): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 9/9 | chr14 | TogoVar | |||||||
L2HGDH_chr14_50237434_50317229 | 50277774 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0315 a0002c0002t0002g0320 |
2 | 360 | 0.0056 | -18 | c.738 others(33): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 6/9 | chr14 | TogoVar | |||||||
L3MBTL2_chr22_41200312_41236271 | 41204790 | AACACACA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 NA18940.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0038 |
4 | 370 | 0.0108 | -18 | c.-57 others(27): Show |
L3MBTL2 | ENSG00000100395.15 | transcript | ENST00000216237.10 | protein_coding | 521 | chr22 | TogoVar | |||||||
L3MBTL3_chr6_130013581_130146438 | 130019976 | AGGCGGCG others(11): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG02148.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0008 a0002c0001t0001g0009 |
2 | 298 | 0.0067 | -18 | c.-95 others(35): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130055631 | CCTCCCTC others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0218 others(4): Show |
7 | 298 | 0.0235 | -18 | c.667 others(33): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130085981 | GGCCTCAA others(11): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02145.hp2 HG02258.hp1 others(18): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0002t0001g0006 a0001c0002t0001g0080 a0001c0002t0001g0188 others(18): Show |
21 | 298 | 0.0705 | -18 | c.140 others(35): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 5958062 | GAGAAGAA others(11): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 94 | 0.0106 | -18 | c.167 others(37): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 18/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 5958112 | GAAGAAGA others(11): Show |
G | intron_variant | MODIFIER | NA18975.hp2 NA19030.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0065 a0001c0001t0002g0092 |
3 | 94 | 0.0319 | -18 | c.167 others(37): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 18/18 | chr18 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43879809 | GGGGCGAG others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0032others(1): Show | a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0013 others(15): Show |
46 | 456 | 0.1009 | -18 | c.-34 others(27): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 94 | chr13 | TogoVar | |||||||
LACTB2_chr8_70632266_70674185 | 70643208 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02895.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0081 a0001c0002t0003g0082 |
2 | 352 | 0.0057 | -18 | c.592 others(33): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
LACTBL1_chr1_22948043_22977866 | 22972139 | AGATGATG others(11): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01261.hp2 others(33): Show |
a0001a0002a0014others(1): Show | a0001c0001a0002c0002a0014c0024others(1): Show | a0001c0001t0001a0002c0002t0001a0014c0024t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 others(23): Show |
36 | 450 | 0.0800 | -18 | c.12+ others(31): Show |
LACTBL1 | ENSG00000215906.9 | transcript | ENST00000426928.7 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
LAG3_chr12_6767520_6783455 | 6778898 | ACACGCGC others(11): Show |
A | downstream_gene_variant | MODIFIER | NA18945.hp1 NA18950.hp1 NA18961.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0034 others(5): Show |
11 | 472 | 0.0233 | -18 | c.*50 others(27): Show |
LAG3 | ENSG00000089692.9 | transcript | ENST00000203629.3 | protein_coding | 444 | chr12 | TogoVar | |||||||
LAGE3_chrX_154472775_154484281 | 154474776 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 285 | 0.0035 | -18 | c.*31 others(29): Show |
LAGE3 | ENSG00000196976.8 | transcript | ENST00000357360.5 | protein_coding | 2998 | chrX | TogoVar | |||||||
LAIR2_chr19_54497831_54515687 | 54514555 | GTTTTTTT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02602.hp1 HG03654.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0136 a0001c0001t0009g0050 |
3 | 475 | 0.0063 | -18 | c.*39 others(29): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 3869 | chr19 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7014555 | AAGGATAC others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(105): Show |
a0001a0002a0003others(66): Show | a0001c0001a0001c0002a0001c0004others(95): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(98): Show | a0001c0001t0001g0161 a0001c0001t0002g0075 a0001c0001t0002g0082 others(105): Show |
108 | 278 | 0.3885 | -18 | c.312 others(35): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 22/62 | chr18 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7110168 | AAGACTCC others(11): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 278 | 0.0036 | -18 | c.61+ others(33): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 1/62 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128961318 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03710.hp1 |
a0007a0015 | a0007c0007a0015c0069 | a0007c0007t0002a0015c0069t0004 | a0007c0007t0002g0081 a0015c0069t0004g0068 |
2 | 88 | 0.0227 | -18 | c.112 others(37): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128962139 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 NA18747.hp2 others(1): Show |
a0001a0003a0011 | a0001c0001a0003c0018a0011c0008 | a0001c0001t0001a0003c0018t0001a0011c0008t0002 | a0001c0001t0001g0052 a0003c0018t0001g0032 a0011c0008t0002g0084 others(1): Show |
4 | 88 | 0.0455 | -18 | c.112 others(37): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129146063 | TAGAAGGA others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0010 | a0010c0034 | a0010c0034t0002 | a0010c0034t0002g0036 | 1 | 88 | 0.0114 | -18 | c.820 others(33): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 5/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129270266 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0005 | a0005c0042 | a0005c0042t0002 | a0005c0042t0002g0007 | 1 | 88 | 0.0114 | -18 | c.232 others(35): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 16/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129439824 | TCATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG03098.hp1 HG03486.hp1 others(1): Show |
a0013a0014 | a0013c0022a0013c0028a0014c0010 | a0013c0022t0003a0013c0028t0003a0014c0010t0003 | a0013c0022t0003g0017 a0013c0028t0003g0011 a0014c0010t0003g0054 others(1): Show |
4 | 88 | 0.0455 | -18 | c.608 others(35): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 42/64 | chr6 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129520373 | TAAAAAAA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp2 HG03041.hp2 |
a0005a0028 | a0005c0009a0028c0021 | a0005c0009t0002a0028c0021t0005 | a0005c0009t0002g0053 a0028c0021t0005g0014 |
2 | 88 | 0.0227 | -18 | c.*40 others(29): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3808 | chr6 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23717719 | AATTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(64): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0005a0001c0039others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0155 others(64): Show |
67 | 280 | 0.2393 | -18 | c.447 others(35): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 2/74 | chr18 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23884047 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00738.hp2 others(42): Show |
a0001a0003a0004others(7): Show | a0001c0002a0001c0005a0001c0049others(10): Show | a0001c0002t0001a0001c0005t0001a0001c0049t0001others(10): Show | a0001c0002t0001g0257 a0001c0005t0001g0189 a0001c0005t0001g0200 others(42): Show |
45 | 280 | 0.1607 | -18 | c.522 others(35): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 40/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA3_chr18_23868020_23960066 | 23884047 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00738.hp1 others(49): Show |
a0001a0002a0015others(2): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0011t0001others(4): Show | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(45): Show |
52 | 334 | 0.1557 | -18 | c.396 others(33): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000269217.11 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112167840 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0009 | 1 | 314 | 0.0032 | -18 | c.155 others(37): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 12/38 | chr6 | TogoVar | |||||||
LAMB1_chr7_107918799_108008161 | 107950923 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0331 | 1 | 364 | 0.0028 | -18 | c.339 others(35): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 24/33 | chr7 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108043545 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01255.hp2 HG01496.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0150 others(6): Show |
9 | 292 | 0.0308 | -18 | c.447 others(35): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 29/33 | chr7 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183079232 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0267 | 1 | 308 | 0.0033 | -18 | c.419 others(37): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMC3_chr9_131004174_131099473 | 131022959 | ACAACCAC others(11): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0062 | a0062c0211 | a0062c0211t0002 | a0062c0211t0002g0355 | 1 | 360 | 0.0028 | -18 | c.374 others(35): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMC3_chr9_131004174_131099473 | 131033022 | GTGGTCCT others(11): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0017 | a0017c0071 | a0017c0071t0002 | a0017c0071t0002g0014 | 1 | 360 | 0.0028 | -18 | c.809 others(33): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMC3_chr9_131004174_131099473 | 131096431 | GGGGAGGG others(11): Show |
G | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0004 | a0004c0002 | a0004c0002t0013 | a0004c0002t0013g0175 | 1 | 360 | 0.0028 | -18 | c.*46 others(29): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 1959 | chr9 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149562 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG03579.hp1 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0120 a0001c0001t0006g0081 |
2 | 372 | 0.0054 | -18 | c.888 others(35): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149564 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0083 | 1 | 372 | 0.0027 | -18 | c.888 others(35): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9526858 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02572.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0014g0279 a0002c0002t0001g0065 a0002c0002t0001g0066 others(3): Show |
8 | 448 | 0.0179 | -18 | c.665 others(35): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LANCL1_chr2_210426251_210481759 | 210454219 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0046 | 1 | 358 | 0.0028 | -18 | c.407 others(33): Show |
LANCL1 | ENSG00000115365.13 | transcript | ENST00000450366.7 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
LAPTM4B_chr8_97770788_97858013 | 97789040 | TTATTTAT others(11): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01934.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0112 a0001c0001t0001g0263 a0001c0001t0001g0306 others(4): Show |
7 | 380 | 0.0184 | -18 | c.99+ others(35): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33574686 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02257.hp1 HG02886.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0040 a0001c0001t0004g0045 a0001c0001t0006g0081 others(2): Show |
5 | 110 | 0.0455 | -18 | c.616 others(35): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 5/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33766913 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02647.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0100 others(3): Show |
6 | 110 | 0.0546 | -18 | c.-82 others(35): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33777664 | GGAAGGGG others(11): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0092 others(9): Show |
12 | 110 | 0.1091 | -18 | c.-82 others(37): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33852870 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02647.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0006g0052 others(7): Show |
10 | 110 | 0.0909 | -18 | c.-83 others(37): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33872359 | CTATTATT others(11): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0102 | 1 | 110 | 0.0091 | -18 | c.-83 others(37): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128065297 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 336 | 0.0030 | -18 | c.-78 others(35): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |