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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L1CAM_chrX_153856516_153891173 | 153860467 | T | TTTTTCTT others(10): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 283 | 0.0035 | 17 | c.*21 others(28): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 1048 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153860530 | T | TCTTTCTT others(10): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 283 | 0.0035 | 17 | c.*21 others(28): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 985 | chrX | TogoVar | |||||||
L1TD1_chr1_62189849_62217328 | 62197397 | T | TTTATATA others(10): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0362 | 1 | 414 | 0.0024 | 17 | c.-11 others(34): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205437 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0164 | 1 | 414 | 0.0024 | 17 | c.-11 others(36): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205441 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG02818.hp2 |
a0002a0005a0014 | a0002c0002a0005c0006a0014c0024 | a0002c0002t0003a0005c0006t0008a0014c0024t0003 | a0002c0002t0003g0018 a0005c0006t0008g0222 a0014c0024t0003g0018 |
3 | 414 | 0.0073 | 17 | c.-11 others(36): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 |
a0006 | a0006c0010 | a0006c0010t0013a0006c0010t0017 | a0006c0010t0013g0045 a0006c0010t0017g0035 |
2 | 414 | 0.0048 | 17 | c.-11 others(36): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62205443 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0178 | 1 | 414 | 0.0024 | 17 | c.-11 others(36): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L3MBTL1_chr20_43502697_43546895 | 43522457 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18979.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 2 | 422 | 0.0047 | 17 | c.863 others(34): Show |
L3MBTL1 | ENSG00000185513.18 | transcript | ENST00000418998.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
L3MBTL2_chr22_41200312_41236271 | 41218583 | A | ACTGAAAC others(10): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0151 | 1 | 370 | 0.0027 | 17 | c.601 others(32): Show |
L3MBTL2 | ENSG00000100395.15 | transcript | ENST00000216237.10 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130048941 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0123 | 1 | 298 | 0.0034 | 17 | c.103 others(32): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 3/22 | chr6 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6072865 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0003g0004 a0001c0001t0004g0049 a0001c0001t0007g0043 others(1): Show |
4 | 94 | 0.0426 | 17 | c.144 others(36): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6072881 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 94 | 0.0106 | 17 | c.144 others(36): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6072881 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 94 | 0.0106 | 17 | c.144 others(36): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6118208 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 | 1 | 94 | 0.0106 | 17 | c.119 others(38): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6181505 | T | TTTTTAGT others(10): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 94 | 0.0106 | 17 | c.982 others(34): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 12/18 | chr18 | TogoVar | |||||||
LAIR1_chr19_54346384_54369931 | 54346700 | T | TAAATAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01099.hp2 others(9): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0002a0009c0014t0002 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0025 others(3): Show |
12 | 462 | 0.0260 | 17 | c.*85 others(28): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 4683 | chr19 | TogoVar | |||||||
LAIR2_chr19_54497831_54515687 | 54514555 | G | GTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 475 | 0.0021 | 17 | c.*39 others(28): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 3869 | chr19 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129066038 | G | GTATGTCT others(10): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 |
a0011 | a0011c0008 | a0011c0008t0002 | a0011c0008t0002g0084 a0011c0008t0002g0085 |
2 | 88 | 0.0227 | 17 | c.396 others(34): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129210003 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0011 | a0011c0008 | a0011c0008t0002 | a0011c0008t0002g0085 | 1 | 88 | 0.0114 | 17 | c.178 others(38): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129314398 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0051 | a0003c0051t0001 | a0003c0051t0001g0008 | 1 | 88 | 0.0114 | 17 | c.341 others(34): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 23/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129418032 | A | ATGGCTCC others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0019 | a0019c0055 | a0019c0055t0002 | a0019c0055t0002g0030 | 1 | 88 | 0.0114 | 17 | c.586 others(36): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 40/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112190922 | T | TCTTTCTT others(10): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0217 | 1 | 314 | 0.0032 | 17 | c.718 others(32): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 6/38 | chr6 | TogoVar | |||||||
LAMA4_chr6_112102931_112259567 | 112190955 | T | TCTTTCTT others(10): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0015 | a0015c0050 | a0015c0050t0002 | a0015c0050t0002g0200 | 1 | 314 | 0.0032 | 17 | c.718 others(32): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 6/38 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321388 | G | GTCAGAGG others(10): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0050 | a0050c0072 | a0050c0072t0001 | a0050c0072t0001g0042 | 1 | 186 | 0.0054 | 17 | c.649 others(34): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321414 | C | CGGGTAGG others(10): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0020 | a0020c0053 | a0020c0053t0001 | a0020c0053t0001g0059 | 1 | 186 | 0.0054 | 17 | c.649 others(34): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321462 | A | AGAGGGGT others(10): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0010 | a0010c0006 | a0010c0006t0001 | a0010c0006t0001g0114 | 1 | 186 | 0.0054 | 17 | c.649 others(34): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321598 | A | AGGTGGGG others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00597.hp2 others(30): Show |
a0002a0011a0012others(19): Show | a0002c0003a0002c0017a0002c0083others(23): Show | a0002c0003t0001a0002c0017t0001a0002c0083t0001others(23): Show | a0002c0003t0001g0090 a0002c0003t0001g0130 a0002c0003t0001g0137 others(30): Show |
33 | 186 | 0.1774 | 17 | c.649 others(34): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321714 | A | AGAGGGGT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00597.hp2 others(27): Show |
a0002a0011a0012others(17): Show | a0002c0003a0002c0017a0002c0083others(21): Show | a0002c0003t0001a0002c0017t0001a0002c0083t0001others(21): Show | a0002c0003t0001g0090 a0002c0003t0001g0137 a0002c0003t0001g0139 others(27): Show |
30 | 186 | 0.1613 | 17 | c.649 others(34): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360544 | T | TGGGTGGA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01257.hp1 HG01943.hp1 others(6): Show |
a0001a0008a0018others(2): Show | a0001c0001a0001c0105a0001c0108others(4): Show | a0001c0001t0001a0001c0105t0001a0001c0108t0001others(4): Show | a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0142 others(6): Show |
9 | 186 | 0.0484 | 17 | c.450 others(34): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LAMC3_chr9_131004174_131099473 | 131046518 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01346.hp2 others(3): Show |
a0004a0005a0008others(1): Show | a0004c0136a0005c0007a0005c0014others(2): Show | a0004c0136t0002a0005c0007t0018a0005c0014t0003others(2): Show | a0004c0136t0002g0170 a0005c0007t0018g0338 a0005c0014t0003g0287 others(3): Show |
6 | 360 | 0.0167 | 17 | c.151 others(34): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMC3_chr9_131004174_131099473 | 131086575 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03579.hp1 |
a0059a0078 | a0059c0109a0078c0065 | a0059c0109t0038a0078c0065t0034 | a0059c0109t0038g0003 a0078c0065t0034g0131 |
2 | 360 | 0.0056 | 17 | c.423 others(34): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113297058 | A | AGGGTCAC others(10): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01891.hp2 HG02559.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0005 | a0001c0001t0001g0010 a0001c0001t0001g0084 a0001c0001t0001g0113 others(11): Show |
15 | 354 | 0.0424 | 17 | c.-37 others(26): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 180 | chr13 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149574 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02809.hp1 NA18989.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0035 a0001c0003t0002g0062 a0001c0003t0002g0068 others(1): Show |
4 | 372 | 0.0108 | 17 | c.888 others(34): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149574 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18982.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0259 a0001c0003t0002g0074 |
2 | 372 | 0.0054 | 17 | c.888 others(34): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9509992 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0191 a0001c0001t0008g0192 |
2 | 448 | 0.0045 | 17 | c.-48 others(28): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 4597 | chr20 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9518010 | T | TCTGCCAG others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(150): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0189 others(135): Show |
153 | 448 | 0.3415 | 17 | c.476 others(30): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LANCL2_chr7_55360337_55438737 | 55415621 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18941.hp2 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0314 others(2): Show |
5 | 352 | 0.0142 | 17 | c.100 others(36): Show |
LANCL2 | ENSG00000132434.10 | transcript | ENST00000254770.3 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LAPTM4B_chr8_97770788_97858013 | 97781278 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0123 | 1 | 380 | 0.0026 | 17 | c.99+ others(32): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LAPTM4B_chr8_97770788_97858013 | 97826543 | T | TGTTTATT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(180): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(180): Show |
183 | 380 | 0.4816 | 17 | c.603 others(34): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LAPTM4B_chr8_97770788_97858013 | 97856137 | A | AGGAGGAG others(10): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 a0001c0001t0003g0262 |
2 | 380 | 0.0053 | 17 | c.*46 others(28): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 3125 | chr8 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33441071 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0028a0001c0003t0032 | a0001c0001t0028g0105 a0001c0003t0032g0107 |
2 | 110 | 0.0182 | 17 | c.788 others(34): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33651225 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0024 | a0001c0001t0006g0065 a0001c0001t0024g0101 |
2 | 110 | 0.0182 | 17 | c.107 others(32): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33878129 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01496.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0057 others(4): Show |
7 | 110 | 0.0636 | 17 | c.-83 others(36): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128062592 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0006 | a0006c0005 | a0006c0005t0005 | a0006c0005t0005g0283 | 1 | 336 | 0.0030 | 17 | c.-78 others(34): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128098767 | A | ATACATAT others(10): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0065 | 1 | 336 | 0.0030 | 17 | c.813 others(32): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128098767 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0288 | 1 | 336 | 0.0030 | 17 | c.813 others(32): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128110676 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02040.hp1 HG02723.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 others(1): Show |
4 | 336 | 0.0119 | 17 | c.988 others(34): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128129164 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18906.hp2 NA19005.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0013 | a0002c0002t0002g0015 a0002c0002t0002g0084 a0002c0002t0013g0093 |
3 | 336 | 0.0089 | 17 | c.152 others(36): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128139900 | A | AACCATTT others(10): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 336 | 0.0030 | 17 | c.152 others(38): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP4B_chr10_804497_936705 | 827275 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02922.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 others(10): Show |
13 | 288 | 0.0451 | 17 | c.112 others(36): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 11/17 | chr10 | TogoVar |