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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LARS2_chr3_45383576_45554407 | 45484622 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp1 HG04115.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125a0001c0002t0001g0126a0001c0002t0001g0218 | 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 | |||||
LARS2_chr3_45383576_45554407 | 45484628 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp2 HG03209.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0005a0001c0011t0001 | a0001c0003t0005g0199a0001c0003t0005g0201a0001c0011t0001g0194 | 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 | |||||
LARS2_chr3_45383576_45554407 | 45484630 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0151 | 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 | |||||
LAS1L_chrX_65507582_65539787 | 65525748 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02818.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0039others(2): Show | 5 | 203 | 0.0246 | 18 | c.957 others(33): Show |
LAS1L | ENSG00000001497.18 | transcript | ENST00000374811.8 | protein_coding | 7/13 | chrX | TogoVar | ||||||
LASP1_chr17_38865058_38926770 | 38875056 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(14): Show | a0001c0001t0001g0201a0001c0001t0001g0217a0001c0001t0001g0218others(35): Show | 38 | 396 | 0.0960 | 18 | c.70- others(33): Show |
LASP1 | ENSG00000002834.19 | transcript | ENST00000318008.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
LASP1_chr17_38865058_38926770 | 38896088 | A | AGGGGCAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0160a0001c0001t0001g0256a0001c0001t0001g0264others(141): Show | 146 | 396 | 0.3687 | 18 | c.250 others(35): Show |
LASP1 | ENSG00000002834.19 | transcript | ENST00000318008.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
LASP1_chr17_38865058_38926770 | 38896088 | A | AGGGGCAA others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0088 | 1 | 396 | 0.0025 | 18 | c.250 others(35): Show |
LASP1 | ENSG00000002834.19 | transcript | ENST00000318008.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
LAT2_chr7_74205006_74234834 | 74214523 | T | TATAAATA others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 344 | 0.0029 | 18 | c.-21 others(35): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LATS2_chr13_20968036_21066586 | 20969898 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0004 | a0004c0004 | a0004c0004t0021 | a0004c0004t0021g0254 | 1 | 316 | 0.0032 | 18 | c.*49 others(29): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3137 | chr13 | TogoVar | ||||||
LAX1_chr1_203760183_203781372 | 203767303 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0095a0001c0001t0001g0102a0001c0001t0001g0120others(27): Show | 30 | 422 | 0.0711 | 18 | c.89+ others(33): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAX1_chr1_203760183_203781372 | 203770429 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0034 | a0001c0005t0034g0342 | 1 | 422 | 0.0024 | 18 | c.90- others(31): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAX1_chr1_203760183_203781372 | 203770433 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG01952.hp1 HG03017.hp1 NA18954.hp1 others(4): Show |
a0001a0010 | a0001c0001a0010c0020 | a0001c0001t0001a0010c0020t0001 | a0001c0001t0001g0144a0001c0001t0001g0159a0001c0001t0001g0166others(4): Show | 7 | 422 | 0.0166 | 18 | c.90- others(31): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAX1_chr1_203760183_203781372 | 203770454 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0333 | 1 | 422 | 0.0024 | 18 | c.90- others(31): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
LBP_chr20_38341482_38382013 | 38378081 | T | TCCTCTCC others(11): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01891.hp2 others(8): Show |
a0003a0007 | a0003c0004a0003c0019a0007c0011 | a0003c0004t0001a0003c0019t0001a0007c0011t0001 | a0003c0004t0001g0028a0003c0004t0001g0323a0003c0004t0001g0326others(7): Show | 11 | 394 | 0.0279 | 18 | c.*14 others(29): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 1069 | chr20 | TogoVar | ||||||
LCA5L_chr21_39400728_39450778 | 39414738 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0250 | 1 | 340 | 0.0029 | 18 | c.976 others(35): Show |
LCA5L | ENSG00000157578.14 | transcript | ENST00000288350.8 | protein_coding | 7/10 | chr21 | TogoVar | ||||||
LCA5L_chr21_39400728_39450778 | 39428578 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0160a0002c0002t0002g0240a0002c0002t0002g0268 | 3 | 340 | 0.0088 | 18 | c.-10 others(31): Show |
LCA5L | ENSG00000157578.14 | transcript | ENST00000288350.8 | protein_coding | 4/10 | chr21 | TogoVar | ||||||
LCA5L_chr21_39400728_39450778 | 39428598 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153a0001c0001t0001g0164 | 2 | 340 | 0.0059 | 18 | c.-10 others(31): Show |
LCA5L | ENSG00000157578.14 | transcript | ENST00000288350.8 | protein_coding | 4/10 | chr21 | TogoVar | ||||||
LCA5_chr6_79479991_79542430 | 79538018 | G | GTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0005 | 1 | 400 | 0.0025 | 18 | c.-10 others(29): Show |
LCA5 | ENSG00000135338.14 | transcript | ENST00000369846.9 | protein_coding | 589 | chr6 | TogoVar | ||||||
LCE1F_chr1_152770140_152782024 | 152776532 | C | CCAGCTCT others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(35): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 38 | 438 | 0.0868 | 18 | c.174 others(25): Show |
p.Gly others(29): Show |
LCE1F | ENSG00000240386.4 | transcript | ENST00000334371.4 | protein_coding | 2/2 | 265/726 | 192/357 | 64/118 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
LCE4A_chr1_152703160_152714434 | 152709204 | C | CAGCTCTG others(11): Show |
disruptive_inframe_insertion | MODERATE | NA18945.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0001 | 1 | 416 | 0.0024 | 18 | c.136 others(25): Show |
p.Ser others(29): Show |
LCE4A | ENSG00000187170.6 | transcript | ENST00000368777.2 | protein_coding | 2/2 | 393/615 | 137/300 | 46/99 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
LCE4A_chr1_152703160_152714434 | 152709204 | C | CAGCTCTG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG02630.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0002 | 3 | 416 | 0.0072 | 18 | c.137 others(25): Show |
p.Gly others(29): Show |
LCE4A | ENSG00000187170.6 | transcript | ENST00000368777.2 | protein_coding | 2/2 | 394/615 | 138/300 | 46/99 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
LCE4A_chr1_152703160_152714434 | 152709204 | C | CAGCTCTG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(288): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0004a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0001others(12): Show | 291 | 416 | 0.6995 | 18 | c.143 others(25): Show |
p.Cys others(29): Show |
LCE4A | ENSG00000187170.6 | transcript | ENST00000368777.2 | protein_coding | 2/2 | 400/615 | 144/300 | 48/99 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
LCE4A_chr1_152703160_152714434 | 152709213 | G | GGGCTGCT others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp1 HG00558.hp2 HG00609.hp1 others(27): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001 | 30 | 416 | 0.0721 | 18 | c.143 others(25): Show |
p.Cys others(29): Show |
LCE4A | ENSG00000187170.6 | transcript | ENST00000368777.2 | protein_coding | 2/2 | 400/615 | 144/300 | 48/99 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
LCE5A_chr1_152505803_152517177 | 152515514 | G | GGGGCTGC others(11): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 434 | 0.0023 | 18 | c.*36 others(29): Show |
LCE5A | ENSG00000186207.5 | transcript | ENST00000334269.3 | protein_coding | 3338 | chr1 | TogoVar | ||||||
LCE5A_chr1_152505803_152517177 | 152515515 | G | GGGCTGCT others(11): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG02027.hp1 others(8): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0003a0004c0004t0001 | a0002c0002t0003g0002a0004c0004t0001g0002 | 11 | 434 | 0.0254 | 18 | c.*36 others(29): Show |
LCE5A | ENSG00000186207.5 | transcript | ENST00000334269.3 | protein_coding | 3339 | chr1 | TogoVar | ||||||
LCK_chr1_32246265_32291165 | 32258616 | T | TTCTACTA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(60): Show | 63 | 274 | 0.2299 | 18 | c.-6+ others(33): Show |
LCK | ENSG00000182866.18 | transcript | ENST00000336890.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LCK_chr1_32246265_32291165 | 32272573 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(143): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(142): Show | 146 | 274 | 0.5329 | 18 | c.-5- others(33): Show |
LCK | ENSG00000182866.18 | transcript | ENST00000336890.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LCMT1_chr16_25106742_25183228 | 25179975 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02071.hp1 HG02109.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010a0001c0001t0001g0043a0001c0001t0001g0137others(22): Show | 25 | 348 | 0.0718 | 18 | c.*19 others(29): Show |
LCMT1 | ENSG00000205629.12 | transcript | ENST00000399069.8 | protein_coding | 1748 | chr16 | TogoVar | ||||||
LCMT2_chr15_43318649_43335573 | 43334633 | T | TTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01169.hp1 HG01515.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0000a0001c0001t0003g0000a0001c0001t0004g0000others(5): Show | 15 | 410 | 0.0366 | 18 | c.-41 others(29): Show |
LCMT2 | ENSG00000168806.8 | transcript | ENST00000305641.7 | protein_coding | 4061 | chr15 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769451 | A | ATGCACTG others(11): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 356 | 0.0056 | 18 | c.-49 others(29): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4934 | chr9 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769485 | A | ATGCACTG others(11): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 356 | 0.0028 | 18 | c.-49 others(29): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4968 | chr9 | TogoVar | ||||||
LCN9_chr9_135658309_135671961 | 135671644 | G | GGGGGGGG others(11): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 424 | 0.0024 | 18 | c.*57 others(29): Show |
LCN9 | ENSG00000148386.10 | transcript | ENST00000619315.2 | protein_coding | 4684 | chr9 | TogoVar | ||||||
LCORL_chr4_17836187_18026755 | 17939879 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02451.hp1 HG02976.hp2 others(3): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0020a0006c0007t0006 | a0002c0002t0020g0275a0002c0002t0020g0276a0006c0007t0006g0272others(3): Show | 6 | 292 | 0.0206 | 18 | c.430 others(37): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 4/7 | chr4 | TogoVar | ||||||
LCORL_chr4_17836187_18026755 | 17939879 | T | TACGTACA others(11): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0243 | 1 | 292 | 0.0034 | 18 | c.430 others(37): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 4/7 | chr4 | TogoVar | ||||||
LCOR_chr10_96827298_97000956 | 96888363 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0155 | 1 | 288 | 0.0035 | 18 | c.-32 others(39): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LCOR_chr10_96827298_97000956 | 96916587 | C | CCATATAT others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0286 | 1 | 288 | 0.0035 | 18 | c.-18 others(37): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | chr10 | TogoVar | ||||||
LCOR_chr10_96827298_97000956 | 96916587 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0038 | 1 | 288 | 0.0035 | 18 | c.-18 others(37): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LCOR_chr10_96827298_97000956 | 96920434 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02486.hp1 others(10): Show |
a0004a0007 | a0004c0005a0004c0009a0007c0016 | a0004c0005t0021a0004c0005t0042a0004c0005t0043others(10): Show | a0004c0005t0021g0171a0004c0005t0042g0170a0004c0005t0043g0124others(10): Show | 13 | 288 | 0.0451 | 18 | c.-18 others(39): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LCOR_chr10_96827298_97000956 | 96920442 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00741.hp1 others(27): Show |
a0001a0015 | a0001c0001a0015c0021 | a0001c0001t0016a0001c0001t0017a0001c0001t0018others(19): Show | a0001c0001t0016g0004a0001c0001t0016g0136a0001c0001t0016g0176others(27): Show | 30 | 288 | 0.1042 | 18 | c.-18 others(39): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LCOR_chr10_96827298_97000956 | 96920749 | T | TGTATATA others(11): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 |
a0009 | a0009c0012 | a0009c0012t0007a0009c0012t0008 | a0009c0012t0007g0063a0009c0012t0008g0020 | 2 | 288 | 0.0069 | 18 | c.-18 others(39): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | chr10 | TogoVar | ||||||
LCOR_chr10_96827298_97000956 | 96942458 | G | GGAGGGAG others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 NA20300.hp2 |
a0007 | a0007c0013 | a0007c0013t0080a0007c0013t0141 | a0007c0013t0080g0174a0007c0013t0141g0175 | 2 | 288 | 0.0069 | 18 | c.-18 others(37): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LCOR_chr10_96827298_97000956 | 96989674 | G | GATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0005 | a0004c0005t0043 | a0004c0005t0043g0124 | 1 | 288 | 0.0035 | 18 | c.*45 others(29): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 8/8 | 4563 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
LCP1_chr13_46120923_46187177 | 46128884 | T | TACTATGG others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0004a0006 | a0001c0001a0001c0008a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(269): Show | 275 | 382 | 0.7199 | 18 | c.175 others(37): Show |
LCP1 | ENSG00000136167.15 | transcript | ENST00000323076.7 | protein_coding | 15/15 | chr13 | TogoVar | ||||||
LCP1_chr13_46120923_46187177 | 46178027 | C | CATGTTTA others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02055.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0178a0001c0001t0001g0183a0001c0001t0001g0188others(17): Show | 21 | 382 | 0.0550 | 18 | c.-25 others(35): Show |
LCP1 | ENSG00000136167.15 | transcript | ENST00000323076.7 | protein_coding | 1/15 | chr13 | TogoVar | ||||||
LCP2_chr5_170241233_170302777 | 170281070 | C | CAGCATTT others(11): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0161 | 1 | 384 | 0.0026 | 18 | c.189 others(35): Show |
LCP2 | ENSG00000043462.13 | transcript | ENST00000046794.10 | protein_coding | 3/20 | chr5 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66544724 | T | TTGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01884.hp2 HG02109.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0170others(7): Show | 14 | 434 | 0.0323 | 18 | c.*37 others(29): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2807 | chr15 | TogoVar | ||||||
LCT_chr2_135782850_135842184 | 135795604 | C | CTAATAAT others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01346.hp1 HG01358.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0120a0002c0002t0001g0157a0002c0002t0001g0187others(2): Show | 5 | 366 | 0.0137 | 18 | c.497 others(35): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 13/16 | chr2 | TogoVar | ||||||
LCT_chr2_135782850_135842184 | 135835976 | G | GTATATAA others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0048 | 1 | 366 | 0.0027 | 18 | c.640 others(33): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | ||||||
LDAF1_chr16_21153674_21185616 | 21156996 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 390 | 0.0026 | 18 | c.-18 others(29): Show |
LDAF1 | ENSG00000011638.11 | transcript | ENST00000233047.9 | protein_coding | 1677 | chr16 | TogoVar | ||||||
LDAH_chr2_20679031_20828101 | 20710604 | G | GTATGTGT others(11): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 258 | 0.0039 | 18 | c.704 others(35): Show |
LDAH | ENSG00000118961.15 | transcript | ENST00000237822.8 | protein_coding | 5/6 | chr2 | TogoVar |