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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRT40_chr17_40972715_40989326 | 40974458 | G | GTTTCTTT others(37): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 NA20752.hp2 |
a0004a0006 | a0004c0007a0006c0006 | a0004c0007t0002a0006c0006t0002 | a0004c0007t0002g0060 a0006c0006t0002g0024 |
2 | 394 | 0.0051 | 44 | c.*37 others(55): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3256 | chr17 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40974468 | C | CTCTCTCT others(37): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03579.hp2 HG06807.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0015 | 3 | 90 | 0.0333 | 44 | c.*37 others(55): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3246 | chr17 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40974489 | T | TCTCTCTC others(37): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG03139.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0033 | 2 | 300 | 0.0067 | 44 | c.*37 others(55): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3225 | chr17 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40974710 | C | CTTTCTCT others(37): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0033 | 1 | 355 | 0.0028 | 44 | c.*34 others(55): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3004 | chr17 | TogoVar | |||||||
KRT8_chr12_52892191_52910076 | 52894977 | G | GGAAAGAA others(37): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 a0001c0002t0001g0011 |
2 | 312 | 0.0064 | 44 | c.*24 others(55): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2213 | chr12 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 1 | 254 | 0.0039 | 44 | c.-11 others(55): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(37): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 255 | 0.0078 | 44 | c.-11 others(55): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310389 | G | GAAAGAAA others(37): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 NA18972.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 255 | 0.0118 | 44 | c.*49 others(55): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4522 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051410 | A | AATATATT others(37): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0000 a0001c0001t0014g0000 |
2 | 326 | 0.0061 | 44 | c.-41 others(55): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 4095 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051410 | A | AATATATT others(37): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 324 | 0.0031 | 44 | c.*34 others(55): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3087 | chr17 | TogoVar | |||||||
KRTAP4-9_chr17_41100389_41111488 | 41110054 | C | CAAGAAAG others(37): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 131 | 0.0153 | 44 | c.*40 others(55): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 3567 | chr17 | TogoVar | |||||||
KRTAP5-1_chr11_1579342_1590283 | 1583879 | G | GGTGTGTG others(37): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 117 | 0.0085 | 44 | c.*53 others(53): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 462 | chr11 | TogoVar | |||||||
LAIR1_chr19_54346384_54369931 | 54359348 | A | ACTCCCAT others(37): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(2): Show |
9 | 460 | 0.0196 | 44 | c.415 others(59): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128879455 | A | ATATATAT others(37): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0006 | a0006c0046 | a0006c0046t0001 | a0006c0046t0001g0075 | 1 | 76 | 0.0132 | 44 | c.-37 others(55): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3682 | chr6 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128879459 | A | ATATATAT others(37): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0002a0012 | a0002c0003a0002c0004a0012c0006 | a0002c0003t0003a0002c0004t0007a0012c0006t0002 | a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0004t0007g0024 others(1): Show |
4 | 69 | 0.0580 | 44 | c.-37 others(55): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3678 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62309636 | G | GGTGGGAG others(37): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0075 | a0075c0127 | a0075c0127t0001 | a0075c0127t0001g0024 | 1 | 143 | 0.0070 | 44 | c.109 others(61): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 79/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62309637 | G | GTGGGAGG others(37): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02717.hp1 |
a0005a0045 | a0005c0026a0045c0071 | a0005c0026t0001a0045c0071t0001 | a0005c0026t0001g0003 a0045c0071t0001g0036 |
2 | 184 | 0.0109 | 44 | c.109 others(61): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 79/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62334753 | C | CAGGGCTC others(37): Show |
intron_variant | MODIFIER | HG00099.hp2 NA18971.hp2 |
a0001a0002 | a0001c0007a0002c0013 | a0001c0007t0001a0002c0013t0001 | a0001c0007t0001g0144 a0002c0013t0001g0075 |
2 | 41 | 0.0488 | 44 | c.248 others(61): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 20/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360602 | G | GTGGGTGG others(37): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0144 | 1 | 86 | 0.0116 | 44 | c.450 others(61): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360602 | G | GTGGGTGG others(37): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02976.hp1 |
a0026a0043 | a0026c0048a0043c0086 | a0026c0048t0001a0043c0086t0001 | a0026c0048t0001g0056 a0043c0086t0001g0128 |
2 | 87 | 0.0230 | 44 | c.450 others(61): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360614 | A | ATGGATAG others(37): Show |
intron_variant | MODIFIER | HG03654.hp2 NA19066.hp2 |
a0004a0083 | a0004c0090a0083c0046 | a0004c0090t0001a0083c0046t0001 | a0004c0090t0001g0096 a0083c0046t0001g0090 |
2 | 121 | 0.0165 | 44 | c.450 others(61): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LAMB1_chr7_107918799_108008161 | 107976926 | T | TCTCCTTC others(37): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(159): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(35): Show | a0001c0001t0001g0033 a0001c0001t0001g0073 a0001c0001t0001g0083 others(158): Show |
162 | 349 | 0.4642 | 44 | c.100 others(63): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 9/33 | chr7 | TogoVar | |||||||
LAMB1_chr7_107918799_108008161 | 107977014 | T | TCTCCTTC others(37): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 HG03486.hp1 others(3): Show |
a0001a0002a0022 | a0001c0006a0001c0014a0001c0022others(3): Show | a0001c0006t0001a0001c0014t0001a0001c0022t0001others(3): Show | a0001c0006t0001g0042 a0001c0014t0001g0346 a0001c0022t0001g0029 others(3): Show |
6 | 224 | 0.0268 | 44 | c.100 others(63): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 9/33 | chr7 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183077776 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 1 | 129 | 0.0078 | 44 | c.419 others(63): 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(37): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 129 | 0.0078 | 44 | c.419 others(63): 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(37): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0098 | 1 | 129 | 0.0078 | 44 | c.419 others(63): 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(37): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0097 | 1 | 129 | 0.0078 | 44 | c.419 others(63): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33556560 | G | GAGGGAAG others(37): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18906.hp1 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0011a0001c0012t0019 | a0001c0003t0011g0063 a0001c0012t0019g0029 |
2 | 73 | 0.0274 | 44 | c.787 others(61): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33556564 | G | GAGGGAAG others(37): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028 | 1 | 88 | 0.0114 | 44 | c.787 others(61): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128098747 | G | GTGTGTAT others(37): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 159 | 0.0063 | 44 | c.813 others(59): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128098747 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18986.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0260 a0001c0001t0001g0264 |
3 | 161 | 0.0186 | 44 | c.813 others(59): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446358 | T | TCTCTCTC others(37): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0164 | 1 | 303 | 0.0033 | 44 | c.804 others(61): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446366 | T | TCCCCCCC others(37): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0316 | 1 | 282 | 0.0035 | 44 | c.804 others(61): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446366 | T | TCTCTCTC others(37): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0174 | 1 | 282 | 0.0035 | 44 | c.804 others(61): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214150 | A | ATAAATAT others(37): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 326 | 0.0031 | 44 | c.-21 others(61): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
LAT2_chr7_74205006_74234834 | 74214203 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0028 |
2 | 329 | 0.0061 | 44 | c.-21 others(61): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LATS2_chr13_20968036_21066586 | 21050125 | C | CAGACAGA others(37): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0172 | 1 | 285 | 0.0035 | 44 | c.-20 others(63): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(37): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02148.hp2 HG03927.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0027others(1): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0024others(2): Show | a0001c0001t0001g0219 a0002c0002t0003g0148 a0002c0002t0003g0149 others(6): Show |
9 | 63 | 0.1429 | 44 | c.-20 others(63): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(37): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02300.hp2 HG02615.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0007others(2): Show | a0001c0001t0001g0269 a0002c0002t0003g0138 a0002c0002t0003g0140 others(5): Show |
8 | 62 | 0.1290 | 44 | c.-20 others(63): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(37): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02683.hp1 HG02809.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0034a0002c0002t0023others(4): Show | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0034g0214 others(5): Show |
8 | 62 | 0.1290 | 44 | c.-20 others(63): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(37): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00741.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0030a0001c0031others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0238 others(15): Show |
19 | 73 | 0.2603 | 44 | c.-20 others(63): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21050147 | G | GATAGATA others(37): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0174 | 1 | 55 | 0.0182 | 44 | c.-20 others(63): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
LAX1_chr1_203760183_203781372 | 203770555 | A | AAAAGAAA others(37): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 417 | 0.0024 | 44 | c.90- others(57): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LBHD2_chr14_103079210_103095027 | 103082970 | A | AGGATGGA others(37): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02647.hp1 others(6): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0001 | a0002c0002t0001g0006 a0002c0002t0001g0042 a0006c0006t0001g0016 |
9 | 429 | 0.0210 | 44 | c.-14 others(55): Show |
LBHD2 | ENSG00000283071.1 | transcript | ENST00000634353.1 | protein_coding | 1239 | chr14 | TogoVar | |||||||
LBP_chr20_38341482_38382013 | 38381475 | G | GGTCTCAG others(37): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 392 | 0.0026 | 44 | c.*48 others(55): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 4463 | chr20 | TogoVar | |||||||
LCOR_chr10_96827298_97000956 | 96920751 | T | TATATGTT others(37): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 |
a0005 | a0005c0006 | a0005c0006t0006a0005c0006t0018 | a0005c0006t0006g0287 a0005c0006t0018g0288 |
2 | 169 | 0.0118 | 44 | c.-18 others(65): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LEMD3_chr12_65164583_65253355 | 65180989 | A | AACACACA others(37): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 328 | 0.0030 | 44 | c.152 others(63): 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(37): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG03471.hp1 HG03927.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0004g0040 a0001c0001t0008g0086 others(1): Show |
4 | 172 | 0.0233 | 44 | c.-36 others(55): Show |
LEPROT | ENSG00000213625.9 | transcript | ENST00000371065.9 | protein_coding | 3602 | chr1 | TogoVar | |||||||
LEPR_chr1_65415668_65646559 | 65417065 | C | CATATATA others(37): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG03927.hp2 NA20300.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0003a0002c0002t0001a0003c0004t0023 | a0001c0001t0003g0090 a0002c0002t0001g0038 a0003c0004t0023g0212 |
3 | 106 | 0.0283 | 44 | c.-37 others(55): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 3602 | chr1 | TogoVar | |||||||
LEPR_chr1_65415668_65646559 | 65488159 | C | CCTTCCTT others(37): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0214 | 1 | 177 | 0.0056 | 44 | c.-21 others(63): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |