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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP5-1_chr11_1579342_1590283 | 1583879 | G | GGTGTGTG others(35): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 NA19009.hp1 NA19010.hp2 others(2): Show |
a0002a0009 | a0002c0002a0009c0013 | a0002c0002t0001a0009c0013t0001 | a0002c0002t0001g0000a0009c0013t0001g0000 | 5 | 429 | 0.0117 | 42 | c.*53 others(51): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 462 | chr11 | TogoVar | ||||||
KRTAP5-8_chr11_71533025_71544209 | 71538092 | G | GGCTGTGG others(35): Show |
disruptive_inframe_insertion | MODERATE | HG06807.hp2 NA20300.hp2 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0000 | 2 | 442 | 0.0045 | 42 | c.50_ others(47): Show |
p.Cys others(53): Show |
KRTAP5-8 | ENSG00000241233.4 | transcript | ENST00000398534.4 | protein_coding | 1/1 | 82/1185 | 51/564 | 17/187 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KSR1_chr17_27451448_27631435 | 27563981 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 246 | 0.0041 | 42 | c.372 others(61): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KSR2_chr12_117448012_117973990 | 117891981 | C | CAGAGTGA others(35): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0066 | 1 | 196 | 0.0051 | 42 | c.181 others(61): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6099585 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18975.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0045a0001c0001t0002g0065a0001c0001t0004g0007 | 3 | 94 | 0.0319 | 42 | c.120 others(61): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6295346 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0087 | 1 | 94 | 0.0106 | 42 | c.127 others(59): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128879457 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 HG03130.hp2 |
a0003a0015 | a0003c0002a0015c0010 | a0003c0002t0002a0015c0010t0003 | a0003c0002t0002g0083a0015c0010t0003g0082 | 2 | 88 | 0.0227 | 42 | c.-37 others(53): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3680 | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128879459 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0065 | 1 | 88 | 0.0114 | 42 | c.-37 others(53): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3678 | chr6 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23687746 | T | TTGTGTGT others(35): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0266 | 1 | 280 | 0.0036 | 42 | c.-19 others(53): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1706 | chr18 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112241140 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp2 others(60): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(23): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(25): Show | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0050others(60): Show | 63 | 314 | 0.2006 | 42 | c.195 others(61): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 2/38 | chr6 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112241170 | T | TGAATATA others(35): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00673.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(8): Show | a0001c0001t0001g0127a0001c0001t0001g0131a0001c0001t0001g0167others(30): Show | 33 | 314 | 0.1051 | 42 | c.195 others(61): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 2/38 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318364 | G | GGGAGGGG others(35): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18906.hp2 |
a0024 | a0024c0017 | a0024c0017t0001 | a0024c0017t0001g0157a0024c0017t0001g0158 | 2 | 186 | 0.0108 | 42 | c.723 others(57): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318364 | G | GGGAGGGG others(35): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG02572.hp1 others(2): Show |
a0014a0015a0034 | a0014c0019a0015c0020a0034c0106 | a0014c0019t0001a0015c0020t0001a0034c0106t0001 | a0014c0019t0001g0150a0014c0019t0001g0152a0015c0020t0001g0151others(2): Show | 5 | 186 | 0.0269 | 42 | c.723 others(57): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62331200 | G | GGGGGGGT others(35): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18906.hp2 |
a0024 | a0024c0017 | a0024c0017t0001 | a0024c0017t0001g0157a0024c0017t0001g0158 | 2 | 186 | 0.0108 | 42 | c.355 others(57): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 28/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62331222 | G | GGGGGGTG others(35): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0080 | a0080c0128 | a0080c0128t0001 | a0080c0128t0001g0026 | 1 | 186 | 0.0054 | 42 | c.355 others(57): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 28/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62332926 | T | TGCAGGAG others(35): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02976.hp2 |
a0013a0030 | a0013c0126a0013c0135a0030c0127 | a0013c0126t0001a0013c0135t0001a0030c0127t0001 | a0013c0126t0001g0065a0013c0135t0001g0064a0030c0127t0001g0066 | 3 | 186 | 0.0161 | 42 | c.328 others(59): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 26/79 | chr20 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183077776 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0043 | 1 | 308 | 0.0033 | 42 | c.419 others(61): 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(35): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0015 | a0015c0033 | a0015c0033t0002 | a0015c0033t0002g0031 | 1 | 308 | 0.0033 | 42 | c.419 others(61): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LARGE1_chr22_33267509_33925476 | 33675292 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 110 | 0.0091 | 42 | c.107 others(61): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128098747 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 336 | 0.0030 | 42 | c.813 others(57): 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(35): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0336 | 1 | 336 | 0.0030 | 42 | c.988 others(59): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446358 | T | TCTCTCTC others(35): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0158 | 1 | 318 | 0.0031 | 42 | c.804 others(59): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446370 | T | TCCCCCCC others(35): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 318 | 0.0031 | 42 | c.804 others(59): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LAS1L_chrX_65507582_65539787 | 65538470 | C | CTATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 203 | 0.0049 | 42 | c.-37 others(53): Show |
LAS1L | ENSG00000001497.18 | transcript | ENST00000374811.8 | protein_coding | 3684 | chrX | TogoVar | ||||||
LCK_chr1_32246265_32291165 | 32266646 | T | TCCTCCTC others(35): Show |
intron_variant | MODIFIER | HG01934.hp1 HG06807.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264a0001c0001t0001g0265a0001c0001t0001g0268 | 3 | 274 | 0.0110 | 42 | c.-5- others(57): Show |
LCK | ENSG00000182866.18 | transcript | ENST00000336890.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LCK_chr1_32246265_32291165 | 32266678 | C | CTCCCCTT others(35): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 274 | 0.0037 | 42 | c.-5- others(57): Show |
LCK | ENSG00000182866.18 | transcript | ENST00000336890.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LCN15_chr9_136754634_136769518 | 136769383 | C | CCCCGCCA others(35): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG02027.hp1 NA18979.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 3 | 356 | 0.0084 | 42 | c.-48 others(53): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4866 | chr9 | TogoVar | ||||||
LCOR_chr10_96827298_97000956 | 96920749 | T | TGTATATA others(35): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0008 | 1 | 288 | 0.0035 | 42 | c.-18 others(63): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | chr10 | TogoVar | ||||||
LDHB_chr12_21630342_21662842 | 21661526 | G | GGGAGGGC others(35): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 326 | 0.0031 | 42 | c.-37 others(53): Show |
LDHB | ENSG00000111716.14 | transcript | ENST00000350669.5 | protein_coding | 3685 | chr12 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36128117 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 236 | 0.0042 | 42 | c.454 others(61): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LEMD3_chr12_65164583_65253355 | 65180989 | A | AACACACA others(35): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035a0001c0001t0005g0036 | 2 | 398 | 0.0050 | 42 | c.152 others(61): Show |
LEMD3 | ENSG00000174106.3 | transcript | ENST00000308330.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LEPROT_chr1_65415668_65441007 | 65417065 | C | CATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02145.hp2 HG02293.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0022 | a0001c0001t0001g0001a0001c0001t0004g0034a0001c0001t0004g0090others(4): Show | 8 | 402 | 0.0199 | 42 | c.-36 others(53): Show |
LEPROT | ENSG00000213625.9 | transcript | ENST00000371065.9 | protein_coding | 3602 | chr1 | TogoVar | ||||||
LEPR_chr1_65415668_65646559 | 65417065 | C | CATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02145.hp2 HG02293.hp2 others(3): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0004a0005c0007others(1): Show | a0001c0001t0003a0003c0004t0006a0005c0007t0003others(1): Show | a0001c0001t0003g0102a0003c0004t0006g0025a0003c0004t0006g0028others(3): Show | 6 | 216 | 0.0278 | 42 | c.-37 others(53): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 3602 | chr1 | TogoVar | ||||||
LEUTX_chr19_39773854_39791291 | 39789487 | G | GATATATA others(35): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 476 | 0.0021 | 42 | c.*33 others(53): Show |
LEUTX | ENSG00000213921.8 | transcript | ENST00000638280.2 | protein_coding | 3197 | chr19 | TogoVar | ||||||
LGALS16_chr19_39650913_39665647 | 39663851 | T | TATATGTA others(35): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02970.hp1 NA18522.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 4 | 442 | 0.0091 | 42 | c.*33 others(53): Show |
LGALS16 | ENSG00000249861.4 | transcript | ENST00000392051.4 | protein_coding | 3205 | chr19 | TogoVar | ||||||
LGI1_chr10_93752936_93803159 | 93779274 | A | AGGACTCT others(35): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0044 | 2 | 376 | 0.0053 | 42 | c.431 others(59): Show |
LGI1 | ENSG00000108231.14 | transcript | ENST00000371418.9 | protein_coding | 4/7 | chr10 | TogoVar | ||||||
LHFPL6_chr13_39337892_39608193 | 39562425 | T | TATATACA others(35): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0226 | 1 | 242 | 0.0041 | 42 | c.385 others(61): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 2/3 | chr13 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610354 | T | TGCTGATG others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03209.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0011a0003c0004t0007 | a0001c0001t0011g0093a0003c0004t0007g0006 | 2 | 260 | 0.0077 | 42 | c.717 others(59): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124610461 | A | AGGGTGCT others(35): Show |
intron_variant | MODIFIER | HG02738.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213a0001c0001t0001g0240 | 2 | 260 | 0.0077 | 42 | c.717 others(59): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124610822 | T | TGTGGGTG others(35): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 260 | 0.0039 | 42 | c.717 others(59): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHX3_chr9_136191250_136210128 | 136192127 | A | ATGGAAAA others(35): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | 42 | c.*51 others(53): Show |
LHX3 | ENSG00000107187.17 | transcript | ENST00000371748.10 | protein_coding | 4122 | chr9 | TogoVar | ||||||
LIMD1_chr3_45589751_45691341 | 45594778 | A | AACACACA others(35): Show |
5_prime_UTR_variant | MODIFIER | HG01081.hp1 HG03139.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0054a0001c0007t0205 | a0001c0002t0054g0330a0001c0007t0205g0002 | 2 | 358 | 0.0056 | 42 | c.-77 others(49): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 1/8 | 35 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
LIMS1_chr2_108529470_108692246 | 108569764 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | HG03491.hp2 NA19066.hp1 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0228a0001c0002t0004g0233a0001c0002t0004g0239 | 3 | 246 | 0.0122 | 42 | c.32+ others(59): Show |
LIMS1 | ENSG00000169756.17 | transcript | ENST00000544547.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LIN28B_chr6_104952107_105088332 | 105023484 | A | ATATAATA others(35): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 278 | 0.0036 | 42 | c.199 others(59): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LIN54_chr4_82919603_83015823 | 82947235 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0018 | 1 | 304 | 0.0033 | 42 | c.952 others(57): Show |
LIN54 | ENSG00000189308.11 | transcript | ENST00000340417.8 | protein_coding | 4/12 | chr4 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28837649 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0027 | a0001c0001t0024g0027a0001c0001t0027g0030 | 2 | 62 | 0.0323 | 42 | c.-39 others(65): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49558431 | T | TTCTCTCT others(35): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0337 | 1 | 384 | 0.0026 | 42 | c.-38 others(53): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 3625 | chr18 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49579001 | G | GGGGAGAG others(35): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0300 | 1 | 384 | 0.0026 | 42 | c.794 others(59): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LIPG_chr18_49557057_49604185 | 49579001 | G | GGGGAGAG others(35): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01258.hp2 HG01884.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(10): Show | a0001c0001t0001g0211a0001c0001t0001g0227a0001c0001t0001g0236others(15): Show | 18 | 384 | 0.0469 | 42 | c.794 others(59): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LIPG_chr18_49557057_49604185 | 49579001 | G | GGGGGGAG others(35): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0322 | 1 | 384 | 0.0026 | 42 | c.794 others(59): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |