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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL26_chr19_18632028_18676721 | 18659082 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136 | 1 | 338 | 0.0030 | 22 | c.84- others(37): Show |
KLHL26 | ENSG00000167487.12 | transcript | ENST00000300976.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KLHL29_chr2_23380179_23713606 | 23536916 | A | ACTCTCTC others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0085 | 1 | 160 | 0.0063 | 22 | c.-45 others(41): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL29_chr2_23380179_23713606 | 23650945 | C | CAAATAGG others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0002others(2): Show | a0001c0001t0002g0077 a0001c0002t0003g0022 a0001c0002t0003g0025 others(6): Show |
9 | 160 | 0.0563 | 22 | c.940 others(39): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL29_chr2_23380179_23713606 | 23670917 | G | GCGCGCGC others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG02145.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0002 | a0001c0001t0001g0041 a0001c0001t0004g0114 a0001c0001t0004g0122 others(1): Show |
4 | 160 | 0.0250 | 22 | c.941 others(41): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53666055 | G | GGAAAGAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 420 | 0.0024 | 22 | c.-48 others(31): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 300 | chr6 | TogoVar | |||||||
KLHL31_chr6_53642916_53670756 | 53666059 | G | GGAAAGAA others(15): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0005 a0001c0001t0014g0025 |
2 | 420 | 0.0048 | 22 | c.-49 others(31): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 304 | chr6 | TogoVar | |||||||
KLHL31_chr6_53642916_53670756 | 53666063 | G | GGAAAGAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 HG02738.hp2 NA18945.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0018others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0257 a0001c0001t0005g0005 others(2): Show |
5 | 420 | 0.0119 | 22 | c.-49 others(31): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 308 | chr6 | TogoVar | |||||||
KLHL31_chr6_53642916_53670756 | 53666063 | G | GGAAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 420 | 0.0024 | 22 | c.-49 others(31): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 308 | chr6 | TogoVar | |||||||
KLHL31_chr6_53642916_53670756 | 53666063 | G | GGAAGGAA others(15): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG03486.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0003 a0001c0001t0003g0130 a0001c0001t0005g0042 |
3 | 420 | 0.0071 | 22 | c.-49 others(31): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 308 | chr6 | TogoVar | |||||||
KLHL31_chr6_53642916_53670756 | 53668833 | T | TGTCTCAG others(15): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01069.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0014 a0001c0001t0002g0041 a0001c0001t0002g0100 others(10): Show |
18 | 420 | 0.0429 | 22 | c.-32 others(33): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 3078 | chr6 | TogoVar | |||||||
KLHL32_chr6_96919728_97145753 | 97055796 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01496.hp2 HG02027.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0088 a0001c0001t0001g0140 others(13): Show |
16 | 244 | 0.0656 | 22 | c.313 others(39): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL32_chr6_96919728_97145753 | 97055816 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 | 1 | 244 | 0.0041 | 22 | c.313 others(39): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 NA18961.hp1 NA18968.hp2 others(1): Show |
a0001a0004a0015 | a0001c0001a0004c0003a0004c0040others(1): Show | a0001c0001t0001a0004c0003t0030a0004c0040t0002others(1): Show | a0001c0001t0001g0049 a0004c0003t0030g0189 a0004c0040t0002g0202 others(1): Show |
4 | 480 | 0.0083 | 22 | c.*79 others(33): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL3_chr5_137612500_137741089 | 137682403 | T | TAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01255.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0214 a0001c0001t0002g0065 a0001c0001t0002g0071 others(1): Show |
4 | 252 | 0.0159 | 22 | c.527 others(39): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
KLHL40_chr3_42680537_42697544 | 42684289 | A | ATGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 | 1 | 438 | 0.0023 | 22 | c.-13 others(33): Show |
KLHL40 | ENSG00000157119.12 | transcript | ENST00000287777.5 | protein_coding | 1247 | chr3 | TogoVar | |||||||
KLHL5_chr4_39057232_39131233 | 39101124 | T | TTATATAC others(15): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG03098.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0002t0002others(3): Show | a0001c0001t0003g0198 a0001c0001t0003g0218 a0001c0001t0003g0219 others(7): Show |
10 | 304 | 0.0329 | 22 | c.130 others(41): Show |
KLHL5 | ENSG00000109790.18 | transcript | ENST00000504108.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLHL6_chr3_183482551_183560706 | 183525263 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0030a0001c0002t0031a0001c0002t0066others(1): Show | a0001c0002t0030g0221 a0001c0002t0031g0015 a0001c0002t0066g0220 others(1): Show |
4 | 298 | 0.0134 | 22 | c.459 others(39): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
KLHL6_chr3_183482551_183560706 | 183525265 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp1 others(29): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0005a0001c0002t0002a0001c0002t0003others(16): Show | a0001c0001t0005g0210 a0001c0002t0002g0182 a0001c0002t0002g0203 others(29): Show |
32 | 298 | 0.1074 | 22 | c.459 others(39): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
KLHL6_chr3_183482551_183560706 | 183525269 | A | AAAAAACA others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0019 | a0001c0019t0120 | a0001c0019t0120g0072 | 1 | 298 | 0.0034 | 22 | c.459 others(39): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
KLHL9_chr9_21324665_21340404 | 21339729 | T | TTATGTGC others(15): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0000 | 2 | 432 | 0.0046 | 22 | c.-48 others(33): Show |
KLHL9 | ENSG00000198642.7 | transcript | ENST00000359039.5 | protein_coding | 4326 | chr9 | TogoVar | |||||||
KLK10_chr19_51007739_51024709 | 51020198 | C | CAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0028 others(4): Show |
7 | 450 | 0.0156 | 22 | c.-58 others(31): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 490 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51020198 | C | CAGAGAGA others(15): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0062 a0001c0001t0002g0114 others(3): Show |
7 | 456 | 0.0154 | 22 | c.*23 others(33): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 2037 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51031595 | C | CATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0101 a0001c0001t0002g0116 a0001c0001t0004g0099 |
3 | 456 | 0.0066 | 22 | c.-50 others(33): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4980 | chr19 | TogoVar | |||||||
KLK12_chr19_51024094_51040002 | 51031595 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0003 | a0001c0001t0002g0126 a0002c0003t0003g0107 a0002c0003t0003g0108 |
3 | 448 | 0.0067 | 22 | c.457 others(37): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
KLK4_chr19_50901351_50916395 | 50914232 | G | GTCCATCT others(15): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01255.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 2 | 414 | 0.0048 | 22 | c.-29 others(33): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2838 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50967511 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 316 | 0.0032 | 22 | c.41- others(35): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
KLK7_chr19_50971468_50988917 | 50980867 | T | TCCAGAGA others(15): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02965.hp2 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 a0001c0002t0003g0116 |
3 | 384 | 0.0078 | 22 | c.222 others(37): Show |
KLK7 | ENSG00000169035.12 | transcript | ENST00000595820.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
KLK8_chr19_50991008_51006604 | 50999583 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 420 | 0.0024 | 22 | c.493 others(37): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
KLK9_chr19_50997508_51014592 | 50999583 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 438 | 0.0023 | 22 | c.*35 others(33): Show |
KLK9 | ENSG00000213022.6 | transcript | ENST00000594211.2 | protein_coding | 2924 | chr19 | TogoVar | |||||||
KLRC2_chr12_10425599_10441010 | 10433005 | A | AGGGGGGG others(15): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 425 | 0.0024 | 22 | c.483 others(37): Show |
KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
KLRD1_chr12_10302870_10334608 | 10324816 | G | GTATATAT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0220 | a0001c0001t0220g0001 | 1 | 428 | 0.0023 | 22 | c.*10 others(35): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 10025 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KLRD1_chr12_10302870_10334608 | 10324818 | G | GTATATAT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01069.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0026a0001c0001t0056a0001c0001t0148others(11): Show | a0001c0001t0026g0030 a0001c0001t0056g0027 a0001c0001t0148g0002 others(11): Show |
16 | 428 | 0.0374 | 22 | c.*10 others(35): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 10051 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KLRD1_chr12_10302870_10334608 | 10324818 | G | GTGTATAT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00621.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0024others(17): Show | a0001c0001t0006g0002 a0001c0001t0010g0002 a0001c0001t0010g0061 others(19): Show |
31 | 428 | 0.0724 | 22 | c.*10 others(35): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 10027 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KLRD1_chr12_10302870_10334608 | 10324818 | G | GTGTGTAT others(15): Show |
3_prime_UTR_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0299 | a0001c0001t0299g0007 | 1 | 428 | 0.0023 | 22 | c.*10 others(35): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 6/6 | 10027 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KLRF1_chr12_9822481_9850005 | 9833901 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 388 | 0.0026 | 22 | c.334 others(37): Show |
KLRF1 | ENSG00000150045.12 | transcript | ENST00000617889.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KLRK1_chr12_10367353_10395041 | 10377618 | A | AAGAGGTA others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 438 | 0.0023 | 22 | c.533 others(37): Show |
KLRK1 | ENSG00000213809.9 | transcript | ENST00000240618.11 | protein_coding | 7/7 | chr12 | TogoVar | |||||||
KLRK1_chr12_10367353_10395041 | 10385367 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02280.hp2 HG02970.hp2 |
a0002 | a0002c0002a0002c0010 | a0002c0002t0006a0002c0002t0007a0002c0010t0007 | a0002c0002t0006g0060 a0002c0002t0007g0116 a0002c0010t0007g0115 |
3 | 438 | 0.0069 | 22 | c.148 others(39): Show |
KLRK1 | ENSG00000213809.9 | transcript | ENST00000240618.11 | protein_coding | 3/7 | chr12 | TogoVar | |||||||
KMO_chr1_241527378_241600642 | 241539383 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01433.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0001g0345 a0001c0001t0005g0101 a0001c0001t0008g0099 others(7): Show |
10 | 422 | 0.0237 | 22 | c.54+ others(37): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241548088 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03710.hp1 NA18747.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0006a0002c0003t0002 | a0001c0001t0005g0027 a0001c0001t0006g0287 a0002c0003t0002g0274 |
3 | 422 | 0.0071 | 22 | c.55- others(35): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241592782 | C | CTATCTAT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01167.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0009a0001c0002t0009a0001c0005t0009others(1): Show | a0001c0001t0009g0087 a0001c0001t0009g0093 a0001c0001t0009g0111 others(12): Show |
15 | 422 | 0.0356 | 22 | c.*64 others(31): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 15/15 | 647 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KMO_chr1_241527378_241600642 | 241592786 | C | CTATCTAT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0067 | 1 | 422 | 0.0024 | 22 | c.*64 others(31): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 15/15 | 647 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KMT2C_chr7_152129925_152441003 | 152215688 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03195.hp2 HG03471.hp2 others(1): Show |
a0002a0014 | a0002c0002a0002c0024a0014c0023 | a0002c0002t0002a0002c0024t0002a0014c0023t0011 | a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0024t0002g0056 others(1): Show |
4 | 172 | 0.0233 | 22 | c.371 others(41): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 23/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152235207 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03927.hp2 NA18974.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0070 others(1): Show |
4 | 172 | 0.0233 | 22 | c.276 others(39): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 16/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152235207 | G | GTATGTAT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03486.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0024 a0002c0004t0002g0058 |
2 | 172 | 0.0116 | 22 | c.276 others(39): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 16/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152249673 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062 | 1 | 172 | 0.0058 | 22 | c.181 others(39): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 13/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152297053 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0005 | 1 | 172 | 0.0058 | 22 | c.849 others(41): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152297057 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03831.hp2 |
a0001a0016 | a0001c0001a0016c0034 | a0001c0001t0001a0016c0034t0001 | a0001c0001t0001g0130 a0016c0034t0001g0031 |
2 | 172 | 0.0116 | 22 | c.849 others(41): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152297057 | G | GACAGACA others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0025 | a0006c0025t0001 | a0006c0025t0001g0016 | 1 | 172 | 0.0058 | 22 | c.849 others(41): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152297057 | G | GACAGACA others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0006 | a0006c0037 | a0006c0037t0001 | a0006c0037t0001g0015 | 1 | 172 | 0.0058 | 22 | c.849 others(41): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02300.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0156 |
2 | 304 | 0.0066 | 22 | c.498 others(39): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |