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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LIPH_chr3_185501262_185557588 | 185528308 | G | GAAAGAAG others(12): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0143 | 1 | 358 | 0.0028 | 19 | c.527 others(34): Show |
LIPH | ENSG00000163898.10 | transcript | ENST00000296252.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
LIPH_chr3_185501262_185557588 | 185528355 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 358 | 0.0028 | 19 | c.527 others(34): Show |
LIPH | ENSG00000163898.10 | transcript | ENST00000296252.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
LIPI_chr21_14103813_14215955 | 14145125 | T | TTCAGACC others(12): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 362 | 0.0028 | 19 | c.111 others(36): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 8/9 | chr21 | TogoVar | |||||||
LIPI_chr21_14103813_14215955 | 14145127 | T | TAGACCCT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(330): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0014others(20): Show | a0001c0001t0001a0001c0001t0008a0001c0008t0001others(27): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(313): Show |
333 | 362 | 0.9199 | 19 | c.111 others(36): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 8/9 | chr21 | TogoVar | |||||||
LIPK_chr10_88701249_88757776 | 88704068 | T | TAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02896.hp2 others(2): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0001 | a0001c0003t0001g0033 a0003c0004t0001g0004 a0003c0004t0001g0171 others(1): Show |
5 | 350 | 0.0143 | 19 | c.-22 others(30): Show |
LIPK | ENSG00000204021.5 | transcript | ENST00000404190.3 | protein_coding | 2180 | chr10 | TogoVar | |||||||
LIPM_chr10_88797730_88825546 | 88822544 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG03579.hp2 HG03942.hp2 others(6): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0015 | a0001c0001t0001a0001c0002t0001a0009c0015t0001 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0052 others(4): Show |
9 | 462 | 0.0195 | 19 | c.*20 others(30): Show |
LIPM | ENSG00000173239.14 | transcript | ENST00000404743.9 | protein_coding | 1999 | chr10 | TogoVar | |||||||
LIPM_chr10_88797730_88825546 | 88823827 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0031 | 1 | 462 | 0.0022 | 19 | c.*33 others(30): Show |
LIPM | ENSG00000173239.14 | transcript | ENST00000404743.9 | protein_coding | 3282 | chr10 | TogoVar | |||||||
LLGL2_chr17_75520697_75580209 | 75532077 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 NA18962.hp2 |
a0004 | a0004c0005 | a0004c0005t0004a0004c0005t0007 | a0004c0005t0004g0355 a0004c0005t0004g0356 a0004c0005t0007g0106 |
3 | 382 | 0.0079 | 19 | c.-31 others(36): Show |
LLGL2 | ENSG00000073350.14 | transcript | ENST00000392550.8 | protein_coding | 1/25 | chr17 | TogoVar | |||||||
LMBR1_chr7_156672791_156898183 | 156742813 | G | GATGATGC others(12): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03540.hp2 |
a0001 | a0001c0006 | a0001c0006t0026 | a0001c0006t0026g0051 a0001c0006t0026g0052 |
2 | 314 | 0.0064 | 19 | c.758 others(36): Show |
LMBR1 | ENSG00000105983.23 | transcript | ENST00000353442.10 | protein_coding | 9/16 | chr7 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 971000 | C | CCGGAGGC others(12): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 294 | 0.0034 | 19 | c.-39 others(26): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 17 | chr16 | TogoVar | |||||||
LMNA_chr1_156109711_156145081 | 156140178 | C | CACACACA others(12): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 286 | 0.0035 | 19 | c.*10 others(30): Show |
LMNA | ENSG00000160789.24 | transcript | ENST00000368300.9 | protein_coding | 98 | chr1 | TogoVar | |||||||
LMNB1_chr5_126772136_126842020 | 126787546 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 374 | 0.0027 | 19 | c.359 others(36): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LMNB1_chr5_126772136_126842020 | 126787546 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 374 | 0.0027 | 19 | c.359 others(36): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LMNB1_chr5_126772136_126842020 | 126787546 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG02071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0241 a0001c0001t0003g0051 a0001c0001t0003g0052 others(3): Show |
6 | 374 | 0.0160 | 19 | c.359 others(36): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LMNB1_chr5_126772136_126842020 | 126787546 | A | ATATATTT others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 374 | 0.0027 | 19 | c.359 others(36): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LMNB1_chr5_126772136_126842020 | 126787546 | A | ATATTTTT others(12): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0346 | 1 | 374 | 0.0027 | 19 | c.359 others(36): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LMNB1_chr5_126772136_126842020 | 126800981 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 374 | 0.0027 | 19 | c.360 others(36): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
LMNB1_chr5_126772136_126842020 | 126800981 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01070.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0271 others(9): Show |
12 | 374 | 0.0321 | 19 | c.360 others(36): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
LMNB1_chr5_126772136_126842020 | 126800981 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 374 | 0.0027 | 19 | c.360 others(36): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
LMNB1_chr5_126772136_126842020 | 126800982 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 374 | 0.0027 | 19 | c.360 others(36): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LMNTD1_chr12_25471082_25558283 | 25519586 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02257.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0318 a0001c0001t0001g0337 a0001c0001t0002g0008 others(2): Show |
6 | 388 | 0.0155 | 19 | c.101 others(36): Show |
LMNTD1 | ENSG00000152936.11 | transcript | ENST00000458174.7 | protein_coding | 7/9 | chr12 | TogoVar | |||||||
LMO7_chr13_75631330_75864866 | 75632862 | G | GTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 HG03710.hp2 |
a0002a0006 | a0002c0003a0006c0006 | a0002c0003t0001a0006c0006t0002 | a0002c0003t0001g0239 a0006c0006t0002g0108 |
2 | 272 | 0.0074 | 19 | c.-37 others(30): Show |
LMO7 | ENSG00000136153.20 | transcript | ENST00000377534.8 | protein_coding | 3467 | chr13 | TogoVar | |||||||
LMO7_chr13_75631330_75864866 | 75662632 | T | TAATGTGA others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01081.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0021a0002c0007others(4): Show | a0001c0001t0001a0001c0021t0001a0002c0007t0003others(4): Show | a0001c0001t0001g0184 a0001c0021t0001g0182 a0002c0007t0003g0176 others(7): Show |
10 | 272 | 0.0368 | 19 | c.69+ others(36): Show |
LMO7 | ENSG00000136153.20 | transcript | ENST00000377534.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LMO7_chr13_75631330_75864866 | 75776162 | G | GATATATA others(12): Show |
intron_variant | MODIFIER | NA19007.hp2 NA19057.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0148 a0004c0004t0001g0149 |
2 | 272 | 0.0074 | 19 | c.317 others(38): Show |
LMO7 | ENSG00000136153.20 | transcript | ENST00000377534.8 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LMOD1_chr1_201891456_201951548 | 201933561 | A | ATGTACAC others(12): Show |
intron_variant | MODIFIER | HG04199.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0225 a0001c0001t0004g0376 |
2 | 400 | 0.0050 | 19 | c.261 others(38): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
LMOD1_chr1_201891456_201951548 | 201947181 | G | GAGAGAGA others(12): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 400 | 0.0025 | 19 | c.-84 others(28): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 634 | chr1 | TogoVar | |||||||
LMOD3_chr3_69101065_69127595 | 69101316 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 NA18947.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0042a0001c0002t0154 | a0001c0002t0016g0325 a0001c0002t0042g0341 a0001c0002t0154g0363 |
3 | 428 | 0.0070 | 19 | c.*77 others(30): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 4748 | chr3 | TogoVar | |||||||
LMOD3_chr3_69101065_69127595 | 69110838 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0033 | 1 | 428 | 0.0023 | 19 | c.165 others(38): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
LMOD3_chr3_69101065_69127595 | 69117851 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0024 | a0002c0024t0077 | a0002c0024t0077g0097 | 1 | 428 | 0.0023 | 19 | c.165 others(36): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
LMX1A_chr1_165196867_165361715 | 165247054 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0274 | 1 | 288 | 0.0035 | 19 | c.496 others(36): Show |
LMX1A | ENSG00000162761.14 | transcript | ENST00000342310.7 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
LMX1A_chr1_165196867_165361715 | 165247054 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01175.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0154 a0001c0001t0005g0036 a0001c0001t0005g0095 others(8): Show |
11 | 288 | 0.0382 | 19 | c.496 others(36): Show |
LMX1A | ENSG00000162761.14 | transcript | ENST00000342310.7 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
LNX1_chr4_53454301_53596486 | 53495548 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 356 | 0.0028 | 19 | c.135 others(36): Show |
LNX1 | ENSG00000072201.14 | transcript | ENST00000263925.8 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
LNX1_chr4_53454301_53596486 | 53506856 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 356 | 0.0028 | 19 | c.775 others(34): Show |
LNX1 | ENSG00000072201.14 | transcript | ENST00000263925.8 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
LNX1_chr4_53454301_53596486 | 53529135 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02698.hp1 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0003a0007c0010t0002 | a0001c0001t0003g0086 a0007c0010t0002g0142 |
2 | 356 | 0.0056 | 19 | c.381 others(38): Show |
LNX1 | ENSG00000072201.14 | transcript | ENST00000263925.8 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
LOC102725191_chr7_12499441_12546270 | 12530012 | A | ATGGTATA others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(272): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(223): Show |
275 | 422 | 0.6517 | 19 | c.687 others(34): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LOC128071545_chr15_80997142_81007279 | 81000771 | A | AGCGTCCG others(12): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 362 | 0.0028 | 19 | c.-13 others(30): Show |
LOC128071545 | ENSG00000288625.1 | transcript | ENST00000676205.1 | protein_coding | 1370 | chr15 | TogoVar | |||||||
LOC128071547_chr12_120529697_120539957 | 120537472 | C | CAAAAAAT others(12): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | 19 | c.*25 others(30): Show |
LOC128071547 | ENSG00000288623.1 | transcript | ENST00000675818.1 | protein_coding | 2516 | chr12 | TogoVar | |||||||
LOC128092252_chr15_50643802_50691717 | 50672898 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 388 | 0.0026 | 19 | c.188 others(36): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
LOC128092252_chr15_50643802_50691717 | 50673064 | T | TTATTATT others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0030 others(8): Show |
12 | 388 | 0.0309 | 19 | c.188 others(38): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
LOC128092252_chr15_50643802_50691717 | 50679538 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0366 |
2 | 388 | 0.0052 | 19 | c.187 others(36): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89323431 | G | GGGGGGCT others(12): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 366 | 0.0027 | 19 | c.10- others(34): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89323602 | C | CCGAGGGC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp1 others(128): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(128): Show |
131 | 366 | 0.3579 | 19 | c.10- others(34): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89334144 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 366 | 0.0027 | 19 | c.10- others(36): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89384879 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 366 | 0.0027 | 19 | c.9+3 others(34): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89415829 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01928.hp1 HG02015.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(14): Show |
17 | 366 | 0.0465 | 19 | c.9+2 others(32): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128706665_chr20_10408708_10439222 | 10427021 | A | ACTGACAC others(12): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02293.hp1 NA18965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 a0001c0001t0002g0296 a0001c0001t0002g0297 others(2): Show |
5 | 408 | 0.0123 | 19 | c.-21 others(36): Show |
LOC128706665 | ENSG00000285723.2 | transcript | ENST00000649912.2 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
LOC128706665_chr20_10408708_10439222 | 10427080 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 408 | 0.0025 | 19 | c.-21 others(36): Show |
LOC128706665 | ENSG00000285723.2 | transcript | ENST00000649912.2 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
LOC128706666_chr20_10408708_10439222 | 10427021 | A | ACTGACAC others(12): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02293.hp1 NA18965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 a0001c0001t0002g0296 a0001c0001t0002g0297 others(2): Show |
5 | 408 | 0.0123 | 19 | c.-27 others(38): Show |
LOC128706666 | ENSG00000285508.2 | transcript | ENST00000713549.1 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
LOC128706666_chr20_10408708_10439222 | 10427080 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 408 | 0.0025 | 19 | c.-27 others(38): Show |
LOC128706666 | ENSG00000285508.2 | transcript | ENST00000713549.1 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
LOC128854680_chr10_75100669_75114157 | 75109818 | T | TTTTTGTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 NA19054.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 2 | 402 | 0.0050 | 19 | c.-66 others(28): Show |
LOC128854680 | ENSG00000293543.1 | transcript | ENST00000713560.1 | protein_coding | 662 | chr10 | TogoVar |