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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IGF2R_chr6_159964082_160116504 | 159980231 | G | GGAAGAAA others(93): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0091 | a0001c0002t0091g0292 | 1 | 310 | 0.0032 | 100 | c.149 others(119): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 1/47 | chr6 | TogoVar | ||||||
IHO1_chr3_49194498_49263106 | 49200464 | C | CGAAAGAA others(93): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0025 | 1 | 196 | 0.0051 | 100 | c.-16 others(115): Show |
IHO1 | ENSG00000173421.17 | transcript | ENST00000452691.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
IL1RL1_chr2_102306563_102357037 | 102311973 | T | TATATATA others(93): Show |
intron_variant | MODIFIER | NA18977.hp2 NA19011.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 | 2 | 348 | 0.0058 | 100 | c.-15 others(117): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IL2RA_chr10_6005689_6067367 | 6055839 | T | TCCCCCCA others(93): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0038 | 1 | 414 | 0.0024 | 100 | c.64+ others(115): Show |
IL2RA | ENSG00000134460.19 | transcript | ENST00000379959.8 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
INVS_chr9_100094243_100307175 | 100299554 | C | CAACACAC others(93): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005a0001c0001t0005g0010 | 2 | 182 | 0.0110 | 100 | c.309 others(117): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
INVS_chr9_100094243_100307175 | 100299557 | C | CACACACA others(93): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012a0001c0001t0005g0013 | 2 | 182 | 0.0110 | 100 | c.309 others(117): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IPCEF1_chr6_154149496_154361803 | 154331405 | A | AAGAAAGA others(93): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0243 | 1 | 264 | 0.0038 | 100 | c.-62 others(119): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76699615 | C | CTCTCTCT others(93): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0011 | 1 | 222 | 0.0045 | 100 | c.436 others(119): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IQGAP2_chr5_76398285_76713132 | 76699619 | C | CCTCTCTC others(93): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0096 | 1 | 222 | 0.0045 | 100 | c.436 others(119): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 33/35 | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76699719 | T | TTCTCTCT others(93): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 222 | 0.0045 | 100 | c.436 others(119): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IRF3_chr19_49654572_49670857 | 49659996 | C | CATATACA others(93): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02258.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 4 | 400 | 0.0100 | 100 | c.109 others(117): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7593423 | G | GCCCCACT others(93): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 342 | 0.0029 | 100 | c.940 others(117): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619598 | C | CTGCTCTC others(93): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0039 | a0001c0039t0003 | a0001c0039t0003g0010 | 1 | 176 | 0.0057 | 100 | c.164 others(117): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITPR2_chr12_26330352_26838194 | 26516250 | A | AGGAAAGG others(93): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0135 | 1 | 142 | 0.0070 | 100 | c.507 others(121): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26775933 | C | CATATATA others(93): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0055 | a0001c0055t0008 | a0001c0055t0008g0059 | 1 | 142 | 0.0070 | 100 | c.163 others(119): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
IZUMO3_chr9_24537952_24550897 | 24546446 | C | CTTTCTTT others(93): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 426 | 0.0024 | 100 | c.-79 others(109): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 550 | chr9 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64913686 | A | AGGAAGGA others(93): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0190 | 1 | 326 | 0.0031 | 100 | c.-77 others(119): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147764930 | G | GAAAGAAA others(93): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0003 | a0001c0003t0076 | a0001c0003t0076g0225 | 1 | 250 | 0.0040 | 100 | c.-14 others(121): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160626 | G | GGGGGGGT others(93): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0052 | 1 | 158 | 0.0063 | 100 | c.222 others(119): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15415619 | T | TCGGGGCG others(93): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0012 | a0001c0001t0002g0057a0001c0001t0002g0225a0001c0002t0012g0207 | 3 | 284 | 0.0106 | 100 | c.323 others(117): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 28110448 | A | AAAAGGAA others(93): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 206 | 0.0049 | 100 | c.115 others(119): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1990536 | A | ATGCTTGC others(93): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0321 | 1 | 389 | 0.0026 | 100 | c.-90 others(119): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19206223 | T | TATATATA others(93): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02145.hp1 HG02280.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0070a0001c0001t0001g0133others(2): Show | 5 | 134 | 0.0373 | 100 | c.77- others(117): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 21234077 | C | CATATAAC others(93): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 80 | 0.0125 | 100 | c.62- others(119): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37677771 | T | TCCATCCA others(93): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0098 | 1 | 198 | 0.0051 | 100 | c.946 others(119): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233672632 | T | TATATATA others(93): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG03041.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0037a0001c0001t0001g0198 | 3 | 422 | 0.0071 | 100 | c.*11 others(111): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 119 | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233672635 | A | ATATACAT others(93): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 | 1 | 422 | 0.0024 | 100 | c.*11 others(111): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 122 | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233672637 | A | ATACATAT others(93): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 422 | 0.0024 | 100 | c.*11 others(111): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 124 | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233672637 | A | ATACATAT others(93): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG00738.hp1 others(71): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0026others(69): Show | 74 | 422 | 0.1754 | 100 | c.*11 others(111): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 124 | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233672637 | A | ATACATAT others(93): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0328a0001c0001t0003g0106 | 2 | 422 | 0.0047 | 100 | c.*11 others(111): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 124 | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233672637 | A | ATACATAT others(93): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG02165.hp2 HG03927.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0375others(2): Show | 5 | 422 | 0.0119 | 100 | c.*11 others(111): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 124 | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233672637 | A | ATACATAT others(93): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 422 | 0.0024 | 100 | c.*11 others(111): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 124 | chr1 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758389 | T | TATATATA others(93): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 232 | 0.0043 | 100 | c.-67 others(119): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758980 | T | TATATATC others(93): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 232 | 0.0043 | 100 | c.-67 others(119): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNQ2_chr20_63395208_63477655 | 63445954 | G | GCCCCTGT others(93): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0315 | 1 | 330 | 0.0030 | 100 | c.388 others(115): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135733433 | T | TGCCCCCA others(93): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 272 | 0.0037 | 100 | c.255 others(119): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135733433 | T | TGCCCCCA others(93): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 272 | 0.0037 | 100 | c.255 others(119): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6429450 | A | AAGAAAGG others(93): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 386 | 0.0026 | 100 | c.-48 others(111): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4640 | chr19 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25071582 | C | CAAAGAAG others(93): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01256.hp1 others(18): Show |
a0001a0002a0007others(3): Show | a0001c0006a0001c0019a0001c0036others(10): Show | a0001c0006t0002a0001c0019t0002a0001c0036t0002others(11): Show | a0001c0006t0002g0008a0001c0006t0002g0092a0001c0006t0002g0119others(18): Show | 21 | 254 | 0.0827 | 100 | c.453 others(121): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIF16B_chr20_16267104_16578448 | 16395356 | A | AGGGAGGG others(93): Show |
intron_variant | MODIFIER | HG00735.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0122a0001c0001t0005g0235 | 2 | 250 | 0.0080 | 100 | c.178 others(119): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 17/25 | chr20 | TogoVar | ||||||
KIF17_chr1_20659014_20723007 | 20712606 | A | ATATTATA others(93): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18953.hp1 |
a0001 | a0001c0009 | a0001c0009t0001a0001c0009t0002 | a0001c0009t0001g0149a0001c0009t0002g0046 | 2 | 414 | 0.0048 | 100 | c.480 others(115): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
KIF17_chr1_20659014_20723007 | 20712606 | A | ATATTATA others(93): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG02280.hp1 others(6): Show |
a0001a0008a0010 | a0001c0129a0008c0012a0008c0128others(1): Show | a0001c0129t0001a0008c0012t0001a0008c0012t0002others(3): Show | a0001c0129t0001g0361a0008c0012t0001g0370a0008c0012t0001g0374others(6): Show | 9 | 414 | 0.0217 | 100 | c.480 others(115): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
KIF18B_chr17_44919711_44952773 | 44952008 | T | TATGTATA others(93): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0347 | 1 | 406 | 0.0025 | 100 | c.-43 others(111): Show |
KIF18B | ENSG00000186185.14 | transcript | ENST00000593135.6 | protein_coding | 4236 | chr17 | TogoVar | ||||||
KIF18B_chr17_44919711_44952773 | 44952008 | T | TATGTATA others(93): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0002t0003others(1): Show | a0001c0001t0001g0126a0001c0001t0008g0221a0001c0001t0008g0340others(9): Show | 12 | 406 | 0.0296 | 100 | c.-43 others(111): Show |
KIF18B | ENSG00000186185.14 | transcript | ENST00000593135.6 | protein_coding | 4236 | chr17 | TogoVar | ||||||
KIF18B_chr17_44919711_44952773 | 44952008 | T | TATGTATA others(93): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0009 | a0001c0002t0003g0119a0001c0002t0003g0121a0001c0002t0003g0122others(4): Show | 7 | 406 | 0.0172 | 100 | c.-43 others(111): Show |
KIF18B | ENSG00000186185.14 | transcript | ENST00000593135.6 | protein_coding | 4236 | chr17 | TogoVar | ||||||
KIF1A_chr2_240708767_240825219 | 240780760 | C | CCACACAG others(93): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0256 | 1 | 330 | 0.0030 | 100 | c.882 others(117): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | ||||||
KIF1A_chr2_240708767_240825219 | 240781086 | T | TCCACACA others(93): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04228.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0247a0002c0002t0001g0266 | 2 | 330 | 0.0061 | 100 | c.882 others(117): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168002066 | T | TGAGAAGA others(93): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0007 | a0007c0009 | a0007c0009t0033 | a0007c0009t0033g0020 | 1 | 375 | 0.0027 | 100 | c.-36 others(117): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126472992 | A | ACCCCCAG others(93): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01517.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0011a0001c0001t0043a0001c0002t0044others(3): Show | a0001c0001t0011g0017a0001c0001t0043g0109a0001c0002t0044g0111others(3): Show | 6 | 114 | 0.0526 | 100 | c.591 others(115): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 5/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126473080 | T | TCTACCTA others(93): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0039 | 1 | 114 | 0.0088 | 100 | c.591 others(115): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 5/16 | chr11 | TogoVar |