view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 62349805 | T | TGGTGGGG others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02135.hp1 NA20752.hp2 |
a0034a0046a0076 | a0034c0106a0046c0105a0076c0111 | a0034c0106t0001a0046c0105t0001a0076c0111t0001 | a0034c0106t0001g0154a0046c0105t0001g0140a0076c0111t0001g0116 | 3 | 186 | 0.0161 | 18 | c.956 others(35): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMB1_chr7_107918799_108008161 | 107935347 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0028 | 1 | 364 | 0.0028 | 18 | c.418 others(33): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 27/33 | chr7 | TogoVar | |||||||
LAMB1_chr7_107918799_108008161 | 107976861 | T | TTCCTTCC others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(122): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(121): Show | 125 | 364 | 0.3434 | 18 | c.100 others(35): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 9/33 | chr7 | TogoVar | |||||||
LAMB1_chr7_107918799_108008161 | 107976948 | C | CCTCCTTC others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 NA18962.hp2 NA19057.hp1 |
a0001a0002a0027 | a0001c0002a0002c0003a0027c0061 | a0001c0002t0001a0002c0003t0002a0027c0061t0001 | a0001c0002t0001g0122a0002c0003t0002g0013a0027c0061t0001g0123 | 3 | 364 | 0.0082 | 18 | c.100 others(37): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 9/33 | chr7 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183077776 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02809.hp2 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0104a0001c0005t0004g0106a0001c0005t0004g0107 | 3 | 308 | 0.0097 | 18 | c.419 others(37): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183077776 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 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 | ||||||
LAMC1_chr1_183018420_183150592 | 183140245 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0108 | 1 | 308 | 0.0033 | 18 | c.447 others(35): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMC3_chr9_131004174_131099473 | 131012048 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0058 | a0058c0211 | a0058c0211t0002 | a0058c0211t0002g0355 | 1 | 360 | 0.0028 | 18 | c.373 others(35): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMC3_chr9_131004174_131099473 | 131022215 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(23): Show |
a0005a0019a0021others(7): Show | a0005c0001a0005c0036a0019c0009others(12): Show | a0005c0001t0001a0005c0036t0001a0005c0036t0013others(13): Show | a0005c0001t0001g0086a0005c0001t0001g0118a0005c0001t0001g0129others(23): Show | 26 | 360 | 0.0722 | 18 | c.374 others(35): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113296599 | G | GCACCTTC others(11): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 354 | 0.0028 | 18 | c.-83 others(27): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 639 | chr13 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149574 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03041.hp2 NA18994.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0033a0001c0003t0002g0036a0001c0003t0002g0064others(1): Show | 4 | 372 | 0.0108 | 18 | c.888 others(35): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183156364 | A | AAACAACA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0083 | 1 | 372 | 0.0027 | 18 | c.50- others(33): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9509990 | A | AAACAAAA others(11): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 448 | 0.0022 | 18 | c.-48 others(29): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 4599 | chr20 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9509992 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0007a0002c0002t0001g0352a0002c0002t0001g0353others(1): Show | 4 | 448 | 0.0089 | 18 | c.-48 others(29): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 4597 | chr20 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9515154 | G | GTGAGGTC others(11): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0355a0001c0001t0002g0356a0002c0002t0001g0352others(2): Show | 5 | 448 | 0.0112 | 18 | c.64+ others(31): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LAMP5_chr20_9509590_9535524 | 9517621 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02809.hp1 HG03139.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0017 | a0002c0002t0001g0054a0002c0002t0001g0346a0002c0002t0001g0347others(3): Show | 7 | 448 | 0.0156 | 18 | c.476 others(33): 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(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(101): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0198others(96): Show | 104 | 352 | 0.2955 | 18 | c.100 others(37): Show |
LANCL2 | ENSG00000132434.10 | transcript | ENST00000254770.3 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LANCL2_chr7_55360337_55438737 | 55436600 | A | ATGAGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG02300.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0001a0002c0003t0002g0008 | 2 | 352 | 0.0057 | 18 | c.*52 others(29): Show |
LANCL2 | ENSG00000132434.10 | transcript | ENST00000254770.3 | protein_coding | 2864 | chr7 | TogoVar | |||||||
LAP3_chr4_17572198_17612970 | 17573730 | G | GTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 300 | 0.0033 | 18 | c.-37 others(29): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 3467 | chr4 | TogoVar | |||||||
LAP3_chr4_17572198_17612970 | 17573730 | G | GTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 300 | 0.0033 | 18 | c.-37 others(29): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 3467 | chr4 | TogoVar | |||||||
LAPTM4B_chr8_97770788_97858013 | 97781278 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0027 | a0001c0001t0006g0005a0001c0001t0027g0302 | 2 | 380 | 0.0053 | 18 | c.99+ others(33): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LAPTM4B_chr8_97770788_97858013 | 97850465 | G | GGGGTGTG others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0018 | a0001c0001t0006g0005a0001c0001t0006g0006a0001c0001t0006g0008others(3): Show | 6 | 380 | 0.0158 | 18 | c.604 others(33): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LAPTM4B_chr8_97770788_97858013 | 97850465 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0162 | 1 | 380 | 0.0026 | 18 | c.604 others(33): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LAPTM4B_chr8_97770788_97858013 | 97850474 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01123.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0029others(3): Show | a0001c0001t0003g0041a0001c0001t0003g0051a0001c0001t0003g0074others(14): Show | 17 | 380 | 0.0447 | 18 | c.604 others(33): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LAPTM4B_chr8_97770788_97858013 | 97850476 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0142a0001c0001t0002g0143a0001c0001t0010g0225others(1): Show | 4 | 380 | 0.0105 | 18 | c.604 others(33): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33396463 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02647.hp2 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0010others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0096a0001c0001t0004g0010a0001c0001t0004g0045others(6): Show | 9 | 110 | 0.0818 | 18 | c.893 others(37): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33441071 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03471.hp2 NA20129.hp1 |
a0001 | a0001c0007a0001c0017 | a0001c0007t0010a0001c0017t0009 | a0001c0007t0010g0006a0001c0017t0009g0083 | 2 | 110 | 0.0182 | 18 | c.788 others(35): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33466693 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0013 | a0001c0001t0004g0010a0001c0004t0013g0102 | 2 | 110 | 0.0182 | 18 | c.788 others(37): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33513812 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0010 | a0001c0002t0006a0001c0007t0004a0001c0007t0010others(1): Show | a0001c0002t0006g0080a0001c0007t0004g0061a0001c0007t0010g0006others(1): Show | 4 | 110 | 0.0364 | 18 | c.787 others(37): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33544684 | A | AAACAACA others(11): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02280.hp1 HG03710.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0023a0001c0002t0001others(1): Show | a0001c0001t0003g0050a0001c0001t0023g0090a0001c0002t0001g0038others(1): Show | 4 | 110 | 0.0364 | 18 | c.787 others(37): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33545419 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 110 | 0.0091 | 18 | c.787 others(37): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33651225 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0074 | 1 | 110 | 0.0091 | 18 | c.107 others(33): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33878129 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 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 | 128098747 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0120 | 1 | 336 | 0.0030 | 18 | c.813 others(33): 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(11): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18747.hp1 NA18979.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047a0002c0002t0002g0085a0002c0002t0002g0291 | 3 | 336 | 0.0089 | 18 | c.813 others(33): 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(11): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0114 | 1 | 336 | 0.0030 | 18 | c.813 others(33): 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(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG02055.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021a0002c0002t0002g0029a0002c0002t0002g0092others(6): Show | 9 | 336 | 0.0268 | 18 | c.988 others(35): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128143796 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(23): Show |
a0001a0009a0011 | a0001c0001a0001c0018a0009c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0018t0003others(2): Show | a0001c0001t0001g0107a0001c0001t0001g0149a0001c0001t0001g0155others(23): Show | 26 | 336 | 0.0774 | 18 | c.152 others(39): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128178035 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0317 | 1 | 336 | 0.0030 | 18 | c.168 others(35): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP4B_chr10_804497_936705 | 931965 | A | ACGTCCGC others(11): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG02148.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152a0001c0001t0002g0156a0001c0001t0002g0201 | 3 | 288 | 0.0104 | 18 | c.-57 others(27): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 261 | chr10 | TogoVar | |||||||
LARP4B_chr10_804497_936705 | 931968 | T | TCCGCCCC others(11): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0210a0001c0001t0009g0096 | 2 | 288 | 0.0069 | 18 | c.-58 others(27): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 264 | chr10 | TogoVar | |||||||
LARP4_chr12_50395885_50485004 | 50426684 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107a0001c0001t0002g0127 | 2 | 318 | 0.0063 | 18 | c.19- others(33): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446409 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 318 | 0.0031 | 18 | c.804 others(35): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446429 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0170 | 1 | 318 | 0.0031 | 18 | c.804 others(35): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446429 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 318 | 0.0031 | 18 | c.804 others(35): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP7_chr4_112632143_112662586 | 112657170 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02155.hp2 HG02886.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0001g0099a0001c0001t0001g0107others(8): Show | 14 | 420 | 0.0333 | 18 | c.166 others(33): Show |
LARP7 | ENSG00000174720.18 | transcript | ENST00000344442.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146111100 | T | TATAATAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG02135.hp1 HG02683.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211a0002c0002t0002g0213a0002c0002t0002g0214others(10): Show | 13 | 284 | 0.0458 | 18 | c.*29 others(29): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 1933 | chr5 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146186812 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0186 | 1 | 284 | 0.0035 | 18 | c.-43 others(29): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 4163 | chr5 | TogoVar | |||||||
LARS2_chr3_45383576_45554407 | 45484616 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0178 | 1 | 242 | 0.0041 | 18 | c.101 others(37): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS2_chr3_45383576_45554407 | 45484620 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 NA19090.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113a0001c0002t0001g0116a0001c0002t0001g0215 | 3 | 242 | 0.0124 | 18 | c.101 others(37): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |