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 others(6): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0004 | 1 | 160 | 0.0063 | 13 | c.286 others(32): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL29_chr2_23380179_23713606 | 23633756 | C | CTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02723.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0019a0001c0002t0003others(2): Show | a0001c0001t0001g0033a0001c0001t0019g0013a0001c0002t0003g0027others(3): Show | 6 | 160 | 0.0375 | 13 | c.286 others(30): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 3/13 | chr2 | TogoVar | ||||||
KLHL29_chr2_23380179_23713606 | 23638085 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0069 | 1 | 160 | 0.0063 | 13 | c.286 others(30): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL31_chr6_53642916_53670756 | 53651399 | T | TAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG02055.hp2 HG02523.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0013a0001c0001t0070a0002c0009t0043 | a0001c0001t0013g0012a0001c0001t0013g0066a0001c0001t0013g0078others(5): Show | 10 | 420 | 0.0238 | 13 | c.*18 others(22): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 3/3 | 198 | chr6 | TogoVar | |||||
KLHL31_chr6_53642916_53670756 | 53658111 | G | GGTGTGGG others(6): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 420 | 0.0024 | 13 | c.-33 others(30): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
KLHL32_chr6_96919728_97145753 | 97057172 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0062 | 1 | 244 | 0.0041 | 13 | c.313 others(30): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLHL32_chr6_96919728_97145753 | 97100966 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 244 | 0.0041 | 13 | c.628 others(32): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG02895.hp1 NA18962.hp1 |
a0001a0003a0004 | a0001c0001a0003c0016a0004c0003 | a0001c0001t0001a0003c0016t0035a0004c0003t0015 | a0001c0001t0001g0010a0003c0016t0035g0027a0004c0003t0015g0044 | 3 | 480 | 0.0063 | 13 | c.*79 others(24): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA18966.hp1 NA18987.hp1 |
a0002a0004a0015 | a0002c0002a0004c0003a0015c0019 | a0002c0002t0108a0004c0003t0002a0015c0019t0011 | a0002c0002t0108g0132a0004c0003t0002g0195a0015c0019t0011g0343 | 3 | 480 | 0.0063 | 13 | c.*79 others(24): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0018 | 1 | 480 | 0.0021 | 13 | c.*79 others(24): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20432991 | A | AAAGAAAG others(6): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0004 | a0003c0004t0029 | a0003c0004t0029g0069 | 1 | 480 | 0.0021 | 13 | c.748 others(30): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
KLHL36_chr16_84643511_84672686 | 84647300 | A | ATAAATAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG03017.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0002g0197a0001c0001t0004g0006a0001c0001t0005g0006others(9): Show | 15 | 448 | 0.0335 | 13 | c.-13 others(24): Show |
KLHL36 | ENSG00000135686.13 | transcript | ENST00000564996.6 | protein_coding | 1210 | chr16 | TogoVar | ||||||
KLHL5_chr4_39057232_39131233 | 39124802 | C | CAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0103a0001c0002t0016g0106 | 2 | 304 | 0.0066 | 13 | c.*37 others(24): Show |
KLHL5 | ENSG00000109790.18 | transcript | ENST00000504108.7 | protein_coding | 11/11 | 3761 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
KLHL6_chr3_183482551_183560706 | 183544749 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 298 | 0.0034 | 13 | c.293 others(32): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
KLK10_chr19_51007739_51024709 | 51018164 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01255.hp2 HG01496.hp2 others(4): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0006 | a0001c0002t0002a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0002t0002g0163a0001c0002t0002g0165a0001c0003t0002g0104others(3): Show | 7 | 450 | 0.0156 | 13 | c.88+ others(26): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51018164 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01255.hp1 HG01496.hp2 others(5): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0001c0001t0002a0008c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(5): Show | 8 | 456 | 0.0175 | 13 | c.*43 others(24): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4071 | chr19 | TogoVar | ||||||
KLK3_chr19_50849915_50865764 | 50857162 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 462 | 0.0022 | 13 | c.206 others(28): Show |
KLK3 | ENSG00000142515.16 | transcript | ENST00000326003.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KLK5_chr19_50938303_50958038 | 50947539 | C | CCCTATTT others(6): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 380 | 0.0026 | 13 | c.726 others(30): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50953773 | T | TATTTGTT others(6): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 380 | 0.0026 | 13 | c.-10 others(24): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 736 | chr19 | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50955941 | G | GTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 380 | 0.0026 | 13 | c.-32 others(24): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 2904 | chr19 | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50957464 | T | TCAAGGGG others(6): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 380 | 0.0026 | 13 | c.-47 others(24): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 4427 | chr19 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50955941 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 316 | 0.0032 | 13 | c.*32 others(24): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 2689 | chr19 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50960028 | A | AAGAGGAG others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0071 | 1 | 316 | 0.0032 | 13 | c.583 others(28): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 50999583 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 420 | 0.0024 | 13 | c.493 others(28): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 51004338 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 420 | 0.0024 | 13 | c.-28 others(24): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 2735 | chr19 | TogoVar | ||||||
KLK8_chr19_50991008_51006604 | 51004921 | C | CAAGGGAT others(6): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 420 | 0.0024 | 13 | c.-34 others(24): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 3318 | chr19 | TogoVar | ||||||
KLK9_chr19_50997508_51014592 | 50999583 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0176 | 1 | 438 | 0.0023 | 13 | c.*35 others(24): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 2924 | chr19 | TogoVar | ||||||
KLK9_chr19_50997508_51014592 | 51004338 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185 | 1 | 438 | 0.0023 | 13 | c.467 others(28): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
KLK9_chr19_50997508_51014592 | 51004921 | C | CAAGGGAT others(6): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0179 | 1 | 438 | 0.0023 | 13 | c.467 others(30): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
KLKB1_chr4_186222507_186263471 | 186239709 | T | TTATAGGA others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(250): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0015others(173): Show | 253 | 432 | 0.5857 | 13 | c.598 others(30): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KLLN_chr10_87854158_87868533 | 87858636 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | 13 | c.*33 others(24): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 521 | chr10 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9606758 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 436 | 0.0023 | 13 | c.85+ others(26): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607343 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 436 | 0.0023 | 13 | c.85+ others(26): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607407 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 436 | 0.0023 | 13 | c.85+ others(26): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRC2_chr12_10425599_10441010 | 10438783 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(2): Show | 11 | 425 | 0.0259 | 13 | c.-27 others(24): Show |
KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 2774 | chr12 | TogoVar | ||||||
KLRF1_chr12_9822481_9850005 | 9833901 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01891.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031a0001c0001t0002g0111a0001c0001t0002g0114 | 4 | 388 | 0.0103 | 13 | c.334 others(28): Show |
KLRF1 | ENSG00000150045.12 | transcript | ENST00000617889.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KL_chr13_33011423_33071143 | 33068407 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02027.hp2 NA18975.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0189 | 3 | 396 | 0.0076 | 13 | c.*42 others(24): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 2265 | chr13 | TogoVar | ||||||
KMT2A_chr11_118431492_118531832 | 118477498 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0158 | 1 | 200 | 0.0050 | 13 | c.333 others(30): Show |
KMT2A | ENSG00000118058.25 | transcript | ENST00000534358.8 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KMT2C_chr7_152129925_152441003 | 152141712 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0084 | 1 | 172 | 0.0058 | 13 | c.143 others(34): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 55/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152178015 | T | TTAAAAAA others(6): Show |
splice_region_variant others(1): Show |
LOW | HG03492.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 172 | 0.0058 | 13 | c.744 others(26): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 37/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152178015 | T | TTTAAAAA others(6): Show |
splice_region_variant others(1): Show |
LOW | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 | 1 | 172 | 0.0058 | 13 | c.744 others(26): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 37/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152226219 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG01433.hp1 others(8): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0002a0002c0011t0002 | a0002c0002t0002g0053a0002c0002t0002g0062a0002c0002t0002g0063others(8): Show | 11 | 172 | 0.0640 | 13 | c.297 others(32): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 18/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152249673 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19068.hp2 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0002a0002c0011t0002 | a0002c0002t0002g0069a0002c0011t0002g0077 | 2 | 172 | 0.0116 | 13 | c.181 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 13/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152253514 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0113 | 1 | 172 | 0.0058 | 13 | c.130 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 9/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152296997 | A | AGAAAGAA others(6): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 172 | 0.0058 | 13 | c.849 others(32): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152308673 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19068.hp2 NA19083.hp2 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0007a0002c0011t0002 | a0002c0002t0007g0012a0002c0011t0002g0077 | 2 | 172 | 0.0116 | 13 | c.849 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152364609 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02109.hp2 others(3): Show |
a0002 | a0002c0004a0002c0007 | a0002c0004t0002a0002c0007t0002a0002c0007t0008 | a0002c0004t0002g0026a0002c0007t0002g0017a0002c0007t0002g0022others(3): Show | 6 | 172 | 0.0349 | 13 | c.162 others(30): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 304 | 0.0033 | 13 | c.498 others(30): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KMT5B_chr11_68149863_68218296 | 68191173 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 328 | 0.0031 | 13 | c.-76 others(30): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
KMT5C_chr19_55334876_55353121 | 55343180 | G | GCCCCTGC others(6): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 406 | 0.0025 | 13 | c.386 others(28): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |