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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL29_chr2_23380179_23713606 | 23613763 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01106.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0002others(5): Show | a0001c0001t0001g0093a0001c0001t0001g0116a0001c0001t0025g0144others(6): Show | 9 | 160 | 0.0563 | 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 | 23627910 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp1 HG02738.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(4): Show | a0001c0001t0001g0121a0001c0001t0002g0086a0001c0001t0019g0013others(4): Show | 7 | 160 | 0.0438 | 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 | 23633756 | C | CTGTGTGT | intron_variant | MODIFIER | HG00544.hp2 HG01168.hp2 HG01169.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0024a0001c0001t0001g0054a0001c0001t0001g0093others(19): Show | 22 | 160 | 0.1375 | 7 | c.286 others(24): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 3/13 | chr2 | TogoVar | ||||||
KLHL29_chr2_23380179_23713606 | 23638085 | T | TAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG00738.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0024others(34): Show | 37 | 160 | 0.2313 | 7 | c.286 others(24): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL31_chr6_53642916_53670756 | 53651399 | T | TAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00544.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0028a0001c0002t0010a0001c0002t0032others(12): Show | a0001c0001t0028g0155a0001c0001t0028g0159a0001c0002t0010g0053others(46): Show | 79 | 420 | 0.1881 | 7 | c.*19 others(16): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 3/3 | 198 | chr6 | TogoVar | |||||
KLHL31_chr6_53642916_53670756 | 53656931 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(46): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0034a0001c0001t0002g0065a0001c0001t0002g0260others(36): Show | 49 | 420 | 0.1167 | 7 | c.-33 others(24): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53665964 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01361.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0108a0001c0001t0003g0029others(5): Show | 9 | 420 | 0.0214 | 7 | c.-39 others(16): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 209 | chr6 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53665971 | A | AAGAAAAG | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA19030.hp2 |
a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0052a0002c0004t0016g0220 | 3 | 420 | 0.0071 | 7 | c.-40 others(16): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 216 | chr6 | TogoVar | ||||||
KLHL32_chr6_96919728_97145753 | 96962714 | C | CACTAGGT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00733.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0113others(50): Show | 55 | 244 | 0.2254 | 7 | c.-65 others(24): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLHL32_chr6_96919728_97145753 | 97100966 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(81): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0123a0001c0001t0001g0152a0001c0001t0002g0004others(80): Show | 84 | 244 | 0.3443 | 7 | c.628 others(26): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLHL32_chr6_96919728_97145753 | 97118619 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0007others(81): Show | 85 | 244 | 0.3484 | 7 | c.135 others(26): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLHL33_chr14_20420852_20441166 | 20420875 | T | TATATATA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01928.hp2 HG02135.hp1 others(8): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0003a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0026others(7): Show | a0001c0001t0001g0002a0001c0001t0008g0248a0001c0001t0026g0020others(8): Show | 11 | 480 | 0.0229 | 7 | c.*79 others(18): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4976 | chr14 | TogoVar | ||||||
KLHL36_chr16_84643511_84672686 | 84647321 | A | AAATAAAT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02280.hp2 HG02486.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0031a0001c0002t0003others(5): Show | a0001c0001t0002g0113a0001c0001t0031g0098a0001c0002t0003g0008others(7): Show | 12 | 448 | 0.0268 | 7 | c.-13 others(18): Show |
KLHL36 | ENSG00000135686.13 | transcript | ENST00000564996.6 | protein_coding | 1189 | chr16 | TogoVar | ||||||
KLHL4_chrX_87512802_87675050 | 87568383 | C | CTTTTTTT | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0232 | 1 | 259 | 0.0039 | 7 | c.423 others(26): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KLHL4_chrX_87512802_87675050 | 87568387 | T | TTCTTTTC | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 259 | 0.0039 | 7 | c.423 others(26): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KLHL5_chr4_39057232_39131233 | 39096185 | G | GTGTCACT | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0012a0001c0001t0024a0001c0001t0032others(1): Show | a0001c0001t0012g0014a0001c0001t0012g0093a0001c0001t0012g0095others(4): Show | 7 | 304 | 0.0230 | 7 | c.111 others(24): Show |
KLHL5 | ENSG00000109790.18 | transcript | ENST00000504108.7 | protein_coding | 5/10 | chr4 | TogoVar | ||||||
KLK10_chr19_51007739_51024709 | 51018164 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 NA18612.hp2 NA18945.hp1 others(15): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0037a0003c0004t0039 | a0003c0004t0005g0014a0003c0004t0005g0015a0003c0004t0005g0121others(3): Show | 18 | 450 | 0.0400 | 7 | c.88+ others(20): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51018164 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 NA18612.hp1 NA18945.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0095a0001c0001t0003g0029others(4): Show | 17 | 456 | 0.0373 | 7 | c.*43 others(18): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4071 | chr19 | TogoVar | ||||||
KLK13_chr19_51050626_51070092 | 51051302 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02257.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0037a0001c0001t0001g0136a0001c0001t0002g0013others(4): Show | 9 | 460 | 0.0196 | 7 | c.*52 others(18): Show |
KLK13 | ENSG00000167759.13 | transcript | ENST00000595793.6 | protein_coding | 4323 | chr19 | TogoVar | ||||||
KLK2_chr19_50868439_50885567 | 50871956 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01255.hp2 HG01257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0021others(2): Show | 9 | 456 | 0.0197 | 7 | c.-15 others(18): Show |
KLK2 | ENSG00000167751.13 | transcript | ENST00000325321.8 | protein_coding | 1482 | chr19 | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50955941 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01257.hp1 HG01361.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0005a0001c0001t0001g0081a0001c0001t0001g0095others(12): Show | 17 | 380 | 0.0447 | 7 | c.-32 others(18): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 2904 | chr19 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50955941 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01257.hp2 HG01361.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0020others(9): Show | 15 | 316 | 0.0475 | 7 | c.*32 others(18): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 2689 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 50992767 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 30 | 420 | 0.0714 | 7 | c.*32 others(18): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 3240 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 50996731 | C | CAAAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02109.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 6 | 420 | 0.0143 | 7 | c.628 others(22): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 50999583 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG02074.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0024others(3): Show | 16 | 420 | 0.0381 | 7 | c.493 others(22): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KLK9_chr19_50997508_51014592 | 50999583 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG02280.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0030others(10): Show | 15 | 438 | 0.0343 | 7 | c.*35 others(18): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 2924 | chr19 | TogoVar | ||||||
KLKB1_chr4_186222507_186263471 | 186239057 | T | TAGGACAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(238): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0006a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0015others(163): Show | 241 | 432 | 0.5579 | 7 | c.598 others(22): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 6/14 | chr4 | TogoVar | ||||||
KLKB1_chr4_186222507_186263471 | 186245802 | G | GTTTTTTT | intron_variant | MODIFIER | HG01361.hp2 HG01981.hp1 HG02602.hp1 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0018a0002c0004t0001g0057a0002c0004t0001g0259others(2): Show | 9 | 432 | 0.0208 | 7 | c.599 others(24): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KLKB1_chr4_186222507_186263471 | 186248595 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(61): Show |
a0001a0003a0005 | a0001c0001a0003c0002a0003c0010others(1): Show | a0001c0001t0001a0003c0002t0001a0003c0002t0009others(2): Show | a0001c0001t0001g0203a0003c0002t0001g0006a0003c0002t0001g0008others(34): Show | 64 | 432 | 0.1482 | 7 | c.599 others(24): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KLLN_chr10_87854158_87868533 | 87858636 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG01433.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0005g0000others(1): Show | 11 | 430 | 0.0256 | 7 | c.*33 others(18): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 521 | chr10 | TogoVar | ||||||
KLRC1_chr12_10441028_10458377 | 10441596 | T | TGACTCGG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG02015.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0004a0001c0001t0002g0008a0001c0001t0002g0010others(10): Show | 42 | 440 | 0.0955 | 7 | c.*49 others(18): Show |
KLRC1 | ENSG00000134545.14 | transcript | ENST00000359151.8 | protein_coding | 4431 | chr12 | TogoVar | ||||||
KLRC3_chr12_10407315_10425595 | 10416009 | A | AATGGCTG | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0021a0004c0004t0003g0073 | 4 | 448 | 0.0089 | 7 | c.588 others(22): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
KLRD1_chr12_10302870_10334608 | 10323864 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0032a0001c0001t0053a0001c0001t0054others(30): Show | a0001c0001t0032g0002a0001c0001t0053g0007a0001c0001t0053g0050others(31): Show | 36 | 428 | 0.0841 | 7 | c.*90 others(18): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 9087 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
KLRG2_chr7_139447690_139488673 | 139484266 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(100): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0016others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(16): Show | a0001c0002t0001g0029a0001c0002t0001g0030a0001c0002t0001g0031others(89): Show | 103 | 402 | 0.2562 | 7 | c.-62 others(16): Show |
KLRG2 | ENSG00000188883.5 | transcript | ENST00000340940.5 | protein_coding | 594 | chr7 | TogoVar | ||||||
KLRK1_chr12_10367353_10395041 | 10368743 | G | GAAAAATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(128): Show | 313 | 438 | 0.7146 | 7 | c.*43 others(18): Show |
KLRK1 | ENSG00000213809.9 | transcript | ENST00000240618.11 | protein_coding | 3609 | chr12 | TogoVar | ||||||
KLRK1_chr12_10367353_10395041 | 10374395 | C | CTTTTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01261.hp2 others(4): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0007a0002c0010t0007 | a0002c0002t0007g0043a0002c0002t0007g0113a0002c0002t0007g0114others(3): Show | 7 | 438 | 0.0160 | 7 | c.534 others(24): Show |
KLRK1 | ENSG00000213809.9 | transcript | ENST00000240618.11 | protein_coding | 7/7 | chr12 | TogoVar | ||||||
KL_chr13_33011423_33071143 | 33044640 | C | CTTTTTTT | intron_variant | MODIFIER | HG02293.hp1 NA18967.hp2 NA18985.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0026 | a0001c0001t0001a0003c0004t0001a0003c0026t0001 | a0001c0001t0001g0090a0003c0004t0001g0040a0003c0004t0001g0092others(3): Show | 6 | 396 | 0.0152 | 7 | c.820 others(24): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
KL_chr13_33011423_33071143 | 33068407 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG03942.hp1 NA18945.hp2 NA18953.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0025a0001c0002t0001g0070others(1): Show | 7 | 396 | 0.0177 | 7 | c.*42 others(18): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 2265 | chr13 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152178015 | T | TTAAAAAA | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG00673.hp2 HG01069.hp1 others(6): Show |
a0002a0012 | a0002c0002a0002c0011a0012c0021 | a0002c0002t0002a0002c0011t0002a0012c0021t0007 | a0002c0002t0002g0062a0002c0002t0002g0063a0002c0002t0002g0066others(6): Show | 9 | 172 | 0.0523 | 7 | c.744 others(20): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 37/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152391142 | C | CAAAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG02148.hp1 HG02559.hp1 others(9): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0031others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(4): Show | a0001c0001t0001g0093a0001c0001t0010g0118a0001c0003t0001g0014others(9): Show | 12 | 172 | 0.0698 | 7 | c.162 others(26): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105023402 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01515.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0186a0001c0002t0002g0267a0001c0002t0002g0277others(6): Show | 9 | 304 | 0.0296 | 7 | c.-18 others(26): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KMT2E_chr7_105009205_105120019 | 105079511 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp2 NA18941.hp2 others(5): Show |
a0001a0012 | a0001c0002a0012c0015 | a0001c0002t0001a0001c0002t0002a0012c0015t0002 | a0001c0002t0001g0228a0001c0002t0002g0236a0001c0002t0002g0237others(5): Show | 8 | 304 | 0.0263 | 7 | c.124 others(24): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KMT2E_chr7_105009205_105120019 | 105087291 | T | TATATATA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0007 | a0001c0001t0002g0192a0001c0002t0002g0189a0001c0002t0002g0190others(3): Show | 6 | 304 | 0.0197 | 7 | c.135 others(26): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KMT5A_chr12_123379132_123414353 | 123379715 | C | CTCAAACT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(173): Show | 260 | 334 | 0.7784 | 7 | c.-44 others(18): Show |
KMT5A | ENSG00000183955.14 | transcript | ENST00000402868.8 | protein_coding | 4416 | chr12 | TogoVar | ||||||
KMT5C_chr19_55334876_55353121 | 55337812 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp2 others(116): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(46): Show | 119 | 406 | 0.2931 | 7 | c.-22 others(18): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 2063 | chr19 | TogoVar | ||||||
KNG1_chr3_186712359_186749410 | 186745590 | A | AACGACTC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(224): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0030others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(184): Show | 227 | 430 | 0.5279 | 7 | c.*32 others(18): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 1181 | chr3 | TogoVar | ||||||
KNL1_chr15_40589249_40669342 | 40590824 | A | ATCTATAC | upstream_gene_variant | MODIFIER | NA18951.hp2 NA18962.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273a0001c0001t0001g0307a0001c0001t0001g0338 | 3 | 370 | 0.0081 | 7 | c.-35 others(18): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 3424 | chr15 | TogoVar | ||||||
KNSTRN_chr15_40377721_40399288 | 40394802 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00673.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(8): Show | 44 | 374 | 0.1177 | 7 | c.*12 others(18): Show |
KNSTRN | ENSG00000128944.14 | transcript | ENST00000249776.13 | protein_coding | 515 | chr15 | TogoVar | ||||||
KPNA1_chr3_122416902_122519939 | 122419892 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0252a0001c0001t0004g0253a0001c0001t0004g0254others(5): Show | 8 | 400 | 0.0200 | 7 | c.*70 others(18): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 2009 | chr3 | TogoVar | ||||||
KPNA1_chr3_122416902_122519939 | 122511980 | T | TAAAGGGA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0019others(4): Show | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0158others(90): Show | 96 | 400 | 0.2400 | 7 | c.-6+ others(22): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 1/13 | chr3 | TogoVar |