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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KPNA6_chr1_32103056_32181563 | 32107732 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01515.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0098 others(5): Show |
8 | 244 | 0.0328 | -9 | c.-39 others(18): Show |
KPNA6 | ENSG00000025800.14 | transcript | ENST00000373625.8 | protein_coding | 323 | chr1 | TogoVar | |||||||
KPNA7_chr7_99168572_99213115 | 99176312 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp2 others(101): Show |
a0001a0004a0005others(4): Show | a0001c0002a0001c0005a0001c0006others(7): Show | a0001c0002t0001a0001c0005t0001a0001c0006t0001others(8): Show | a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 others(101): Show |
104 | 334 | 0.3114 | -9 | c.146 others(28): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 10/10 | chr7 | TogoVar | |||||||
KPNA7_chr7_99168572_99213115 | 99187799 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(84): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0185 a0001c0001t0001g0299 a0001c0002t0001g0009 others(84): Show |
87 | 334 | 0.2605 | -9 | c.900 others(24): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29068057 | CAACATAT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(220): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0023 a0001c0001t0001g0170 a0001c0001t0001g0205 others(216): Show |
223 | 368 | 0.6060 | -9 | c.-50 others(20): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 4977 | chr22 | TogoVar | |||||||
KRI1_chr19_10548085_10571010 | 10570728 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(55): Show |
a0001a0002a0003others(7): Show | a0001c0018a0002c0002a0002c0012others(9): Show | a0001c0018t0002a0002c0002t0002a0002c0002t0007others(14): Show | a0001c0018t0002g0144 a0001c0018t0002g0154 a0002c0002t0002g0012 others(33): Show |
58 | 406 | 0.1429 | -9 | c.-47 others(20): Show |
KRI1 | ENSG00000129347.21 | transcript | ENST00000312962.12 | protein_coding | 4719 | chr19 | TogoVar | |||||||
KRT12_chr17_40856303_40872223 | 40861069 | CATTATCA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(205): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0013others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0041 others(31): Show |
208 | 425 | 0.4894 | -9 | c.*58 others(18): Show |
KRT12 | ENSG00000187242.6 | transcript | ENST00000251643.5 | protein_coding | 233 | chr17 | TogoVar | |||||||
KRT14_chr17_41577279_41591895 | 41586219 | AGAGAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02083.hp1 NA18612.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 a0002c0002t0001g0038 |
5 | 330 | 0.0152 | -9 | c.525 others(22): Show |
KRT14 | ENSG00000186847.6 | transcript | ENST00000167586.7 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
KRT222_chr17_40649665_40670177 | 40665724 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 a0001c0001t0004g0093 |
8 | 418 | 0.0191 | -9 | c.-63 others(18): Show |
KRT222 | ENSG00000213424.9 | transcript | ENST00000394052.5 | protein_coding | 548 | chr17 | TogoVar | |||||||
KRT25_chr17_40743021_40760331 | 40753683 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01074.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0011others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0011t0001others(1): Show | a0001c0001t0001g0130 a0001c0001t0001g0157 a0002c0002t0001g0050 others(6): Show |
11 | 426 | 0.0258 | -9 | c.669 others(24): Show |
KRT25 | ENSG00000204897.7 | transcript | ENST00000312150.5 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
KRT6B_chr12_52441651_52457146 | 52455005 | TATTATTA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG03195.hp2 others(3): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0003a0008c0011t0003 | a0001c0001t0003g0016 a0001c0001t0003g0048 a0008c0011t0003g0017 |
6 | 434 | 0.0138 | -9 | c.-29 others(20): Show |
KRT6B | ENSG00000185479.6 | transcript | ENST00000252252.4 | protein_coding | 2860 | chr12 | TogoVar | |||||||
KRT6C_chr12_52463516_52478805 | 52477110 | CTATCTAT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(114): Show |
a0002a0009a0012others(2): Show | a0002c0003a0002c0005a0002c0007others(7): Show | a0002c0003t0003a0002c0005t0002a0002c0005t0004others(8): Show | a0002c0003t0003g0003 a0002c0003t0003g0013 a0002c0003t0003g0022 others(18): Show |
117 | 438 | 0.2671 | -9 | c.-33 others(20): Show |
KRT6C | ENSG00000170465.10 | transcript | ENST00000252250.7 | protein_coding | 3306 | chr12 | TogoVar | |||||||
KRT78_chr12_52832807_52853994 | 52843038 | GAGGGAGG others(2): Show |
G | intron_variant | MODIFIER | HG02083.hp1 HG02257.hp2 HG02451.hp2 others(8): Show |
a0002a0005a0009others(2): Show | a0002c0002a0005c0017a0009c0011others(2): Show | a0002c0002t0001a0005c0017t0005a0009c0011t0001others(2): Show | a0002c0002t0001g0015 a0002c0002t0001g0077 a0005c0017t0005g0039 others(4): Show |
11 | 410 | 0.0268 | -9 | c.104 others(28): Show |
KRT78 | ENSG00000170423.13 | transcript | ENST00000304620.5 | protein_coding | 6/8 | chr12 | TogoVar | |||||||
KRT78_chr12_52832807_52853994 | 52843046 | GAAGGGAG others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG02818.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 others(1): Show |
4 | 410 | 0.0098 | -9 | c.104 others(28): Show |
KRT78 | ENSG00000170423.13 | transcript | ENST00000304620.5 | protein_coding | 6/8 | chr12 | TogoVar | |||||||
KRTAP10-9_chr21_44622093_44633378 | 44625811 | GCTTCTGC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(256): Show |
a0001a0007a0009others(3): Show | a0001c0001a0001c0026a0001c0027others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(25): Show |
259 | 472 | 0.5487 | -9 | c.-13 others(20): Show |
KRTAP10-9 | ENSG00000221837.7 | transcript | ENST00000397911.5 | protein_coding | 1281 | chr21 | TogoVar | |||||||
KRTAP19-8_chr21_31033159_31043476 | 31039851 | GAAAATGC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 35 | 378 | 0.0926 | -9 | c.-14 others(20): Show |
KRTAP19-8 | ENSG00000206102.2 | transcript | ENST00000382822.2 | protein_coding | 1376 | chr21 | TogoVar | |||||||
KRTAP4-16_chr17_41096502_41107209 | 41099646 | TTTGCTAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 423 | 0.0166 | -9 | c.*18 others(20): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1855 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158501 | GGAAGAAG others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00621.hp2 others(24): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0000 a0005c0005t0001g0000 |
27 | 420 | 0.0643 | -9 | c.*16 others(20): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1147 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158570 | AGAAGAAG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG03139.hp1 others(1): Show |
a0002a0009 | a0002c0002a0009c0008 | a0002c0002t0003a0009c0008t0001 | a0002c0002t0003g0000 a0009c0008t0001g0000 |
4 | 420 | 0.0095 | -9 | c.*16 others(20): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1078 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158573 | AGAAGAGG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01346.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 420 | 0.0191 | -9 | c.*16 others(20): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1075 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158576 | AGAGGAGG others(2): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp1 NA18952.hp1 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 420 | 0.0071 | -9 | c.*16 others(20): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1072 | chr17 | TogoVar | |||||||
KRTAP4-5_chr17_41143924_41154825 | 41145177 | CTTTCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(30): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0005others(3): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0007others(5): Show | a0001c0001t0001g0000 a0003c0003t0001g0000 a0003c0003t0007g0000 others(5): Show |
33 | 402 | 0.0821 | -9 | c.*40 others(20): Show |
KRTAP4-5 | ENSG00000198271.5 | transcript | ENST00000343246.6 | protein_coding | 3746 | chr17 | TogoVar | |||||||
KRTAP4-6_chr17_41134433_41145544 | 41145177 | CTTTCTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0004others(1): Show | a0001c0002t0003a0002c0003t0004a0003c0004t0001others(3): Show | a0001c0002t0003g0000 a0002c0003t0004g0000 a0003c0004t0001g0000 others(3): Show |
34 | 438 | 0.0776 | -9 | c.-46 others(20): Show |
KRTAP4-6 | ENSG00000198090.4 | transcript | ENST00000345847.5 | protein_coding | 4634 | chr17 | TogoVar | |||||||
KRTAP4-8_chr17_41091981_41103142 | 41099646 | TTTGCTAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 416 | 0.0192 | -9 | c.-15 others(20): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1505 | chr17 | TogoVar | |||||||
KRTAP5-4_chr11_1615958_1627138 | 1626775 | CTTTTTTC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01081.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 7 | 427 | 0.0164 | -9 | c.-46 others(20): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 4638 | chr11 | TogoVar | |||||||
KRTAP5-5_chr11_1624775_1635930 | 1626775 | CTTTTTTC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01081.hp2 others(4): Show |
a0005a0008 | a0005c0005a0005c0022a0008c0009 | a0005c0005t0004a0005c0022t0004a0008c0009t0004 | a0005c0005t0004g0000 a0005c0022t0004g0000 a0008c0009t0004g0000 |
7 | 445 | 0.0157 | -9 | c.-30 others(20): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 2999 | chr11 | TogoVar | |||||||
KRTAP5-8_chr11_71533025_71544209 | 71536831 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02145.hp2 others(19): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0006 | a0002c0002t0001a0003c0003t0001a0003c0006t0001 | a0002c0002t0001g0000 a0003c0003t0001g0000 a0003c0006t0001g0000 |
22 | 442 | 0.0498 | -9 | c.-12 others(20): Show |
KRTAP5-8 | ENSG00000241233.4 | transcript | ENST00000398534.4 | protein_coding | 1193 | chr11 | TogoVar | |||||||
KRTAP5-9_chr11_71543420_71554608 | 71552730 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02897.hp2 NA18946.hp1 NA18964.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0006a0003c0003t0004 | a0001c0001t0001g0000 a0001c0001t0006g0000 a0003c0003t0004g0000 |
9 | 422 | 0.0213 | -9 | c.*35 others(20): Show |
KRTAP5-9 | ENSG00000254997.4 | transcript | ENST00000528743.4 | protein_coding | 3123 | chr11 | TogoVar | |||||||
KRTAP5-9_chr11_71543420_71554608 | 71554118 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(121): Show |
a0001a0006a0008 | a0001c0001a0006c0006a0008c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 others(3): Show |
124 | 422 | 0.2938 | -9 | c.*49 others(20): Show |
KRTAP5-9 | ENSG00000254997.4 | transcript | ENST00000528743.4 | protein_coding | 4511 | chr11 | TogoVar | |||||||
KRTCAP3_chr2_27437381_27449297 | 27446865 | AATTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01109.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 286 | 0.0140 | -9 | c.*26 others(20): Show |
KRTCAP3 | ENSG00000157992.12 | transcript | ENST00000288873.7 | protein_coding | 2569 | chr2 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117578601 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01496.hp1 HG02055.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(12): Show | a0001c0001t0001g0079 a0001c0001t0001g0157 a0001c0001t0002g0127 others(13): Show |
16 | 196 | 0.0816 | -9 | c.132 others(26): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 7/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117740654 | GTAATATA others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0043others(22): Show | a0001c0001t0002g0114 a0001c0001t0008g0103 a0001c0001t0043g0011 others(23): Show |
26 | 196 | 0.1327 | -9 | c.986 others(28): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117740656 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0085a0001c0002t0041 | a0001c0001t0085g0061 a0001c0002t0041g0027 |
2 | 196 | 0.0102 | -9 | c.986 others(28): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117869312 | CAGTGAAC others(2): Show |
C | intron_variant | MODIFIER | HG03098.hp2 NA19240.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0074a0001c0003t0068a0001c0006t0105 | a0001c0002t0074g0063 a0001c0003t0068g0046 a0001c0006t0105g0098 |
3 | 196 | 0.0153 | -9 | c.181 others(26): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117936511 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01106.hp1 HG01109.hp1 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0014others(9): Show | a0001c0001t0003g0016 a0001c0001t0011g0022 a0001c0001t0014g0066 others(9): Show |
12 | 196 | 0.0612 | -9 | c.180 others(28): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117936527 | TTATTATT others(2): Show |
T | intron_variant | MODIFIER | HG01168.hp1 NA18943.hp1 NA18968.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0002t0009a0001c0002t0012others(1): Show | a0001c0001t0035g0015 a0001c0002t0009g0191 a0001c0002t0012g0035 others(1): Show |
4 | 196 | 0.0204 | -9 | c.180 others(28): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117936530 | TTATTAGT others(2): Show |
T | intron_variant | MODIFIER | HG02523.hp2 HG02630.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0005 | a0001c0002t0008g0165 a0001c0003t0005g0145 |
2 | 196 | 0.0102 | -9 | c.180 others(28): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128874722 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01069.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 others(24): Show |
28 | 326 | 0.0859 | -9 | c.-7+ others(24): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT3_chr1_88930779_88997629 | 88931880 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01975.hp2 HG02055.hp2 others(14): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0005t0002others(2): Show | a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0002t0002g0066 others(14): Show |
17 | 312 | 0.0545 | -9 | c.*42 others(20): Show |
KYAT3 | ENSG00000137944.18 | transcript | ENST00000260508.9 | protein_coding | 3898 | chr1 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 143026748 | CCGCAGTC others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00609.hp2 others(51): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0010a0002c0002t0016others(31): Show | a0002c0002t0003g0103 a0002c0002t0003g0141 a0002c0002t0003g0142 others(51): Show |
54 | 332 | 0.1627 | -9 | c.903 others(26): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 143042933 | TTTGATAA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(67): Show |
a0002a0005 | a0002c0002a0005c0004 | a0002c0002t0003a0002c0002t0010a0002c0002t0016others(40): Show | a0002c0002t0003g0103 a0002c0002t0003g0141 a0002c0002t0003g0142 others(66): Show |
70 | 332 | 0.2108 | -9 | c.*76 others(18): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 14/14 | 763 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
L1CAM_chrX_153856516_153891173 | 153859486 | AGGAAGGA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0039 |
2 | 283 | 0.0071 | -9 | c.*31 others(20): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2029 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153860533 | TCTTTCTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 283 | 0.0035 | -9 | c.*21 others(20): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 982 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153877287 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02818.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 6 | 283 | 0.0212 | -9 | c.-10 others(28): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 1/28 | chrX | TogoVar | |||||||
L2HGDH_chr14_50237434_50317229 | 50270492 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0022others(4): Show | a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 others(9): Show |
12 | 360 | 0.0333 | -9 | c.739 others(26): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 6/9 | chr14 | TogoVar | |||||||
L2HGDH_chr14_50237434_50317229 | 50277774 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(76): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(22): Show | a0001c0001t0001g0117 a0001c0001t0001g0148 a0001c0001t0001g0149 others(74): Show |
79 | 360 | 0.2194 | -9 | c.738 others(24): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 6/9 | chr14 | TogoVar | |||||||
L2HGDH_chr14_50237434_50317229 | 50291197 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0001c0001t0018a0002c0003t0068 | a0001c0001t0014g0204 a0001c0001t0014g0205 a0001c0001t0014g0209 others(4): Show |
7 | 360 | 0.0194 | -9 | c.540 others(26): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 4/9 | chr14 | TogoVar | |||||||
L3MBTL2_chr22_41200312_41236271 | 41207236 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0002a0001c0006a0001c0013 | a0001c0002t0001a0001c0006t0001a0001c0013t0001 | a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0244 others(5): Show |
11 | 370 | 0.0297 | -9 | c.24+ others(24): Show |
L3MBTL2 | ENSG00000100395.15 | transcript | ENST00000216237.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
L3MBTL3_chr6_130013581_130146438 | 130116915 | ATTTTTAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(123): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0002t0001g0002 a0001c0002t0001g0030 a0001c0002t0001g0036 others(122): Show |
126 | 298 | 0.4228 | -9 | c.188 others(28): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6045455 | TTTATTGG others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG02486.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0034 a0001c0001t0002g0092 others(5): Show |
8 | 94 | 0.0851 | -9 | c.144 others(30): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6072882 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp1 HG03195.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0002a0002c0002t0001a0003c0005t0004 | a0001c0001t0002g0034 a0002c0002t0001g0032 a0003c0005t0004g0085 |
3 | 94 | 0.0319 | -9 | c.144 others(28): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar |