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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL23_chr2_169728832_169756878 | 169738861 | CCCTCTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00738.hp1 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(9): Show | a0001c0002t0001g0023a0001c0002t0003g0186a0001c0002t0004g0021others(22): Show | 26 | 400 | 0.0650 | -7 | c.121 others(26): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169753075 | ATCTATCT | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01361.hp2 NA19006.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0259a0001c0001t0001g0260a0001c0002t0004g0192 | 3 | 400 | 0.0075 | -7 | c.*33 others(18): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 1198 | chr2 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183659719 | AATATATG | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(142): Show |
a0001a0002 | a0001c0002a0001c0008a0001c0009others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(18): Show | a0001c0002t0002g0003a0001c0002t0002g0007a0001c0002t0002g0008others(136): Show | 145 | 312 | 0.4647 | -7 | c.921 others(24): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 3/7 | chr3 | TogoVar | ||||||
KLHL24_chr3_183630623_183689519 | 183678926 | TTACACAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(165): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0009a0001c0001t0035a0001c0001t0041others(25): Show | a0001c0001t0009g0039a0001c0001t0009g0040a0001c0001t0009g0041others(159): Show | 168 | 312 | 0.5385 | -7 | c.160 others(24): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 7/7 | chr3 | TogoVar | ||||||
KLHL26_chr19_18632028_18676721 | 18640551 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(8): Show | a0001c0001t0005g0008a0001c0001t0005g0014a0001c0001t0005g0036others(32): Show | 39 | 338 | 0.1154 | -7 | c.83+ others(22): Show |
KLHL26 | ENSG00000167487.12 | transcript | ENST00000300976.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KLHL29_chr2_23380179_23713606 | 23408263 | TAAAAAAA | T | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03017.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(4): Show | a0001c0001t0001g0054a0001c0001t0002g0098a0001c0001t0019g0013others(4): Show | 7 | 160 | 0.0438 | -7 | c.-15 others(28): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL29_chr2_23380179_23713606 | 23597400 | TATATATA | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0019a0001c0004t0002g0020 | 2 | 160 | 0.0125 | -7 | c.285 others(26): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 3/13 | chr2 | TogoVar | ||||||
KLHL29_chr2_23380179_23713606 | 23627730 | TGTGTGGC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(139): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0017others(139): Show | 142 | 160 | 0.8875 | -7 | c.286 others(26): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL29_chr2_23380179_23713606 | 23701786 | TTTTTTGC | T | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG02572.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0041a0001c0001t0001g0066a0001c0001t0001g0121others(10): Show | 13 | 160 | 0.0813 | -7 | c.210 others(26): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL2_chr4_165202561_165328147 | 165263805 | GTTTTTTT | G | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG01884.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0063a0001c0001t0001g0071others(32): Show | 35 | 254 | 0.1378 | -7 | c.544 others(22): Show |
KLHL2 | ENSG00000109466.14 | transcript | ENST00000226725.11 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KLHL32_chr6_96919728_97145753 | 97055796 | TAAAAAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01167.hp1 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0114others(32): Show | 35 | 244 | 0.1434 | -7 | c.313 others(24): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLHL32_chr6_96919728_97145753 | 97056099 | TTTTTTTC | T | intron_variant | MODIFIER | HG01106.hp1 HG02083.hp2 HG02523.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006a0002c0002t0019 | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0121others(3): Show | 8 | 244 | 0.0328 | -7 | c.313 others(24): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLHL3_chr5_137612500_137741089 | 137628961 | GTTAAAAA | G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0022a0001c0001t0012g0023a0001c0001t0012g0024 | 3 | 252 | 0.0119 | -7 | c.145 others(24): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 12/14 | chr5 | TogoVar | ||||||
KLHL3_chr5_137612500_137741089 | 137712156 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0004a0001c0002t0007g0005a0001c0002t0007g0019others(4): Show | 9 | 252 | 0.0357 | -7 | c.135 others(24): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 2/14 | chr5 | TogoVar | ||||||
KLHL41_chr2_169504702_169531258 | 169524418 | CTTTTTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0228others(4): Show | 9 | 422 | 0.0213 | -7 | c.171 others(26): Show |
KLHL41 | ENSG00000239474.7 | transcript | ENST00000284669.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL4_chrX_87512802_87675050 | 87528706 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0043others(81): Show | 88 | 259 | 0.3398 | -7 | c.422 others(26): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KLHL4_chrX_87512802_87675050 | 87536341 | AGTTACCT | A | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0087 | 1 | 259 | 0.0039 | -7 | c.422 others(26): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | chrX | TogoVar | ||||||
KLHL4_chrX_87512802_87675050 | 87568384 | TTTTTTTC | T | intron_variant | MODIFIER | HG01256.hp1 HG01993.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0026a0001c0002t0002g0037a0001c0002t0002g0082others(2): Show | 5 | 259 | 0.0193 | -7 | c.423 others(26): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KLHL7_chr7_23100785_23182914 | 23117081 | CTTTTTTT | C | intron_variant | MODIFIER | HG02293.hp1 HG02615.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0010a0001c0002t0015others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0107a0001c0002t0001g0108others(4): Show | 8 | 328 | 0.0244 | -7 | c.121 others(24): Show |
KLHL7 | ENSG00000122550.18 | transcript | ENST00000339077.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KLHL7_chr7_23100785_23182914 | 23128422 | TAAAAAAA | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0213a0001c0001t0003g0017a0001c0001t0008g0017others(2): Show | 6 | 328 | 0.0183 | -7 | c.442 others(24): Show |
KLHL7 | ENSG00000122550.18 | transcript | ENST00000339077.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KLK13_chr19_51050626_51070092 | 51051402 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00639.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0102others(15): Show | 25 | 460 | 0.0544 | -7 | c.*51 others(18): Show |
KLK13 | ENSG00000167759.13 | transcript | ENST00000595793.6 | protein_coding | 4223 | chr19 | TogoVar | ||||||
KLK15_chr19_50820289_50838574 | 50824891 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02109.hp2 others(11): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0093a0001c0001t0001g0107a0001c0001t0001g0114others(10): Show | 14 | 442 | 0.0317 | -7 | c.*89 others(16): Show |
KLK15 | ENSG00000174562.14 | transcript | ENST00000598239.6 | protein_coding | 397 | chr19 | TogoVar | ||||||
KLK1_chr19_50814146_50828787 | 50824891 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02109.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0031a0002c0002t0001g0002others(2): Show | 14 | 422 | 0.0332 | -7 | c.-11 others(18): Show |
KLK1 | ENSG00000167748.11 | transcript | ENST00000301420.3 | protein_coding | 1105 | chr19 | TogoVar | ||||||
KLK3_chr19_50849915_50865764 | 50865304 | TTCTTTCC | T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00621.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0003a0001c0002t0002a0002c0008t0005 | a0001c0001t0003g0076a0001c0002t0002g0001a0001c0002t0002g0005others(7): Show | 27 | 462 | 0.0584 | -7 | c.*51 others(18): Show |
KLK3 | ENSG00000142515.16 | transcript | ENST00000326003.7 | protein_coding | 4541 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 50992253 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(77): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0003a0005c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(43): Show | 80 | 420 | 0.1905 | -7 | c.*37 others(18): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 3754 | chr19 | TogoVar | ||||||
KLKB1_chr4_186222507_186263471 | 186225475 | AGTGCAGT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(253): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0015others(176): Show | 256 | 432 | 0.5926 | -7 | c.-21 others(18): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 2031 | chr4 | TogoVar | ||||||
KLKB1_chr4_186222507_186263471 | 186236127 | AAAAAAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG01928.hp2 HG02040.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(12): Show | 19 | 432 | 0.0440 | -7 | c.329 others(22): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KLRC1_chr12_10441028_10458377 | 10456685 | GGCCTCCA | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG00738.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0002a0001c0001t0003g0009a0001c0001t0003g0034others(4): Show | 79 | 440 | 0.1796 | -7 | c.-35 others(18): Show |
KLRC1 | ENSG00000134545.14 | transcript | ENST00000359151.8 | protein_coding | 3309 | chr12 | TogoVar | ||||||
KLRC2_chr12_10425599_10441010 | 10426171 | TGACTCGG | T | downstream_gene_variant | MODIFIER | HG00621.hp1 HG02135.hp2 NA19058.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 3 | 425 | 0.0071 | -7 | c.*49 others(18): Show |
KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 4427 | chr12 | TogoVar | ||||||
KLRK1_chr12_10367353_10395041 | 10379234 | AGAGAGAG | A | intron_variant | MODIFIER | HG02258.hp1 HG02886.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0033a0002c0002t0006g0059 | 3 | 438 | 0.0069 | -7 | c.277 others(22): Show |
KLRK1 | ENSG00000213809.9 | transcript | ENST00000240618.11 | protein_coding | 5/7 | chr12 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241528721 | GAGAGAGA | G | upstream_gene_variant | MODIFIER | HG02056.hp1 HG03486.hp2 NA18992.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0003a0001c0004t0010a0001c0005t0003others(3): Show | a0001c0001t0003g0050a0001c0004t0010g0397a0001c0005t0003g0401others(3): Show | 6 | 422 | 0.0142 | -7 | c.-37 others(18): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 3656 | chr1 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152147722 | AAAAAAAG | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00673.hp2 others(27): Show |
a0001a0002a0014 | a0001c0006a0002c0002a0002c0011others(1): Show | a0001c0006t0002a0002c0002t0002a0002c0011t0002others(1): Show | a0001c0006t0002g0095a0001c0006t0002g0096a0001c0006t0002g0097others(27): Show | 30 | 172 | 0.1744 | -7 | c.138 others(26): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 52/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152200328 | TTACAAAA | T | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG03209.hp1 others(2): Show |
a0003 | a0003c0009a0003c0015 | a0003c0009t0004a0003c0015t0004 | a0003c0009t0004g0108a0003c0009t0004g0109a0003c0009t0004g0110others(2): Show | 5 | 172 | 0.0291 | -7 | c.409 others(24): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 26/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152249673 | CAAAAAAA | C | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02109.hp2 others(2): Show |
a0002 | a0002c0007 | a0002c0007t0002a0002c0007t0008 | a0002c0007t0002g0017a0002c0007t0002g0022a0002c0007t0002g0050others(2): Show | 5 | 172 | 0.0291 | -7 | c.181 others(24): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 13/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152348599 | TAAAAAAA | T | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00735.hp2 others(31): Show |
a0001a0002a0011others(3): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(7): Show | a0001c0001t0001g0146a0002c0002t0002g0018a0002c0002t0002g0019others(31): Show | 34 | 172 | 0.1977 | -7 | c.250 others(24): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 2/58 | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105050638 | CTTTTCTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(87): Show |
a0001a0008a0011 | a0001c0001a0001c0007a0008c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0023others(87): Show | 90 | 304 | 0.2961 | -7 | c.71+ others(22): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KMT5B_chr11_68149863_68218296 | 68217794 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01346.hp2 HG01358.hp1 others(59): Show |
a0001a0002a0006 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0011others(49): Show | 62 | 328 | 0.1890 | -7 | c.-47 others(18): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 4499 | chr11 | TogoVar | ||||||
KNG1_chr3_186712359_186749410 | 186715750 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00597.hp2 others(93): Show |
a0001a0002a0003others(4): Show | a0001c0004a0002c0006a0002c0011others(7): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(31): Show | a0001c0004t0001g0004a0001c0004t0001g0010a0001c0004t0001g0028others(80): Show | 96 | 430 | 0.2233 | -7 | c.-17 others(18): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 1608 | chr3 | TogoVar | ||||||
KNG1_chr3_186712359_186749410 | 186722117 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG02451.hp2 HG02486.hp1 others(16): Show |
a0002a0003a0009 | a0002c0006a0002c0011a0003c0005others(2): Show | a0002c0006t0002a0002c0011t0001a0002c0011t0006others(8): Show | a0002c0006t0002g0084a0002c0011t0001g0093a0002c0011t0006g0022others(15): Show | 19 | 430 | 0.0442 | -7 | c.307 others(22): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KNSTRN_chr15_40377721_40399288 | 40397480 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0010 | 11 | 374 | 0.0294 | -7 | c.*38 others(18): Show |
KNSTRN | ENSG00000128944.14 | transcript | ENST00000249776.13 | protein_coding | 3193 | chr15 | TogoVar | ||||||
KNTC1_chr12_122522249_122631396 | 122619026 | GTTTTGTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01106.hp1 others(16): Show |
a0001a0003a0021others(1): Show | a0001c0001a0003c0004a0003c0008others(2): Show | a0001c0001t0001a0003c0004t0001a0003c0008t0001others(3): Show | a0001c0001t0001g0306a0003c0004t0001g0008a0003c0004t0001g0016others(16): Show | 19 | 320 | 0.0594 | -7 | c.614 others(24): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 59/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KPNA3_chr13_49694320_49797682 | 49730519 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0253a0001c0001t0001g0254a0001c0001t0001g0258others(22): Show | 25 | 376 | 0.0665 | -7 | c.383 others(24): Show |
KPNA3 | ENSG00000102753.10 | transcript | ENST00000261667.8 | protein_coding | 6/16 | chr13 | TogoVar | ||||||
KPNA3_chr13_49694320_49797682 | 49768567 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01109.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0033a0001c0001t0002g0057a0001c0001t0002g0068others(15): Show | 18 | 376 | 0.0479 | -7 | c.70- others(24): Show |
KPNA3 | ENSG00000102753.10 | transcript | ENST00000261667.8 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
KPNA6_chr1_32103056_32181563 | 32119021 | TATATATA | T | intron_variant | MODIFIER | HG01255.hp2 HG02280.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0020a0001c0001t0042others(2): Show | a0001c0001t0008g0076a0001c0001t0020g0075a0001c0001t0020g0236others(3): Show | 6 | 244 | 0.0246 | -7 | c.4+1 others(22): Show |
KPNA6 | ENSG00000025800.14 | transcript | ENST00000373625.8 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
KPNA6_chr1_32103056_32181563 | 32155915 | ATTTTTTT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01261.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0196a0001c0001t0001g0222a0001c0001t0001g0223others(2): Show | 5 | 244 | 0.0205 | -7 | c.139 others(22): Show |
KPNA6 | ENSG00000025800.14 | transcript | ENST00000373625.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KPNA7_chr7_99168572_99213115 | 99178771 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00621.hp1 others(74): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0079a0001c0001t0001g0090others(72): Show | 77 | 334 | 0.2305 | -7 | c.131 others(24): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99187797 | TTTAAAAA | T | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02040.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0209a0001c0001t0001g0279others(14): Show | 20 | 334 | 0.0599 | -7 | c.900 others(22): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 7/10 | chr7 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99187799 | TAAAAAAA | T | intron_variant | MODIFIER | HG02109.hp1 HG02683.hp2 HG02896.hp2 others(3): Show |
a0001a0002 | a0001c0005a0001c0006a0002c0007 | a0001c0005t0001a0001c0006t0001a0002c0007t0001 | a0001c0005t0001g0030a0001c0005t0001g0031a0001c0006t0001g0172others(3): Show | 6 | 334 | 0.0180 | -7 | c.900 others(22): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 7/10 | chr7 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99199065 | GAAAAAAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00733.hp2 others(39): Show |
a0001a0007a0009 | a0001c0004a0001c0005a0007c0012others(1): Show | a0001c0004t0001a0001c0004t0003a0001c0005t0001others(2): Show | a0001c0004t0001g0005a0001c0004t0001g0006a0001c0004t0001g0022others(37): Show | 42 | 334 | 0.1258 | -7 | c.202 others(24): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 3/10 | chr7 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99205410 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp2 others(99): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0016others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0016t0001others(5): Show | a0001c0001t0001g0119a0001c0001t0001g0152a0001c0001t0001g0163others(99): Show | 102 | 334 | 0.3054 | -7 | c.66+ others(22): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 2/10 | chr7 | TogoVar |