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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLKB1_chr4_186222507_186263471 | 186259590 | G | GTTAGGTA others(8): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0215 | 1 | 432 | 0.0023 | 15 | c.*13 others(26): Show |
KLKB1 | ENSG00000164344.17 | transcript | ENST00000264690.11 | protein_coding | 1120 | chr4 | TogoVar | |||||||
KLLN_chr10_87854158_87868533 | 87858636 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG02109.hp1 HG02683.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0000 a0001c0001t0011g0000 |
5 | 430 | 0.0116 | 15 | c.*33 others(26): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 521 | chr10 | TogoVar | |||||||
KLRD1_chr12_10302870_10334608 | 10334443 | G | GTAACTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 428 | 0.0023 | 15 | c.*19 others(28): Show |
KLRD1 | ENSG00000134539.17 | transcript | ENST00000336164.9 | protein_coding | 4836 | chr12 | TogoVar | |||||||
KLRF1_chr12_9822481_9850005 | 9833901 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 388 | 0.0026 | 15 | c.334 others(30): 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(8): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02004.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0025 a0001c0002t0001g0063 others(1): Show |
4 | 396 | 0.0101 | 15 | c.*42 others(26): Show |
KL | ENSG00000133116.8 | transcript | ENST00000380099.4 | protein_coding | 2265 | chr13 | TogoVar | |||||||
KMO_chr1_241527378_241600642 | 241539389 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0024 a0001c0001t0002g0148 a0001c0001t0003g0282 others(3): Show |
6 | 422 | 0.0142 | 15 | c.54+ others(30): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241549202 | G | GAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0022 | 1 | 422 | 0.0024 | 15 | c.124 others(30): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241549252 | A | AGAAAGAA others(8): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0393 | 1 | 422 | 0.0024 | 15 | c.124 others(30): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241562943 | C | CGGGAAGG others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0045 | 1 | 422 | 0.0024 | 15 | c.615 others(30): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152249673 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18974.hp1 |
a0002a0003 | a0002c0002a0003c0015 | a0002c0002t0002a0003c0015t0004 | a0002c0002t0002g0070 a0003c0015t0004g0048 |
2 | 172 | 0.0116 | 15 | c.181 others(32): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 13/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152308673 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01928.hp2 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0002a0002c0007t0002 | a0002c0002t0002g0072 a0002c0007t0002g0022 |
2 | 172 | 0.0116 | 15 | c.849 others(32): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152364609 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG03516.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0027 a0002c0004t0002g0029 a0002c0004t0002g0167 |
3 | 172 | 0.0174 | 15 | c.162 others(32): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152384548 | A | ACACCACC others(8): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 172 | 0.0058 | 15 | c.162 others(34): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152385611 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0111 | 1 | 172 | 0.0058 | 15 | c.162 others(34): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152391142 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0098 | 1 | 172 | 0.0058 | 15 | c.162 others(34): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | |||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 304 | 0.0033 | 15 | c.498 others(32): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071609 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0192 a0001c0005t0001g0285 |
2 | 304 | 0.0066 | 15 | c.498 others(32): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | chr7 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133182959 | T | TGTGGGCA others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02976.hp1 others(1): Show |
a0011 | a0011c0020a0011c0025 | a0011c0020t0002a0011c0025t0002 | a0011c0020t0002g0258 a0011c0020t0002g0259 a0011c0025t0002g0242 others(1): Show |
4 | 332 | 0.0121 | 15 | c.361 others(30): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNG1_chr3_186712359_186749410 | 186725543 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00621.hp1 others(11): Show |
a0002a0003 | a0002c0002a0002c0010a0003c0005others(2): Show | a0002c0002t0001a0002c0010t0002a0002c0010t0019others(4): Show | a0002c0002t0001g0216 a0002c0010t0002g0322 a0002c0010t0019g0249 others(9): Show |
14 | 430 | 0.0326 | 15 | c.564 others(30): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KNL1_chr15_40589249_40669342 | 40659927 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0150 | 1 | 370 | 0.0027 | 15 | c.683 others(32): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 25/25 | chr15 | TogoVar | |||||||
KPNA1_chr3_122416902_122519939 | 122476861 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02738.hp2 HG03688.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0299 a0001c0001t0003g0341 a0001c0001t0003g0360 others(2): Show |
5 | 400 | 0.0125 | 15 | c.130 others(32): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
KPNA1_chr3_122416902_122519939 | 122495262 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01516.hp2 HG01517.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(3): Show | a0001c0001t0003g0016 a0001c0001t0003g0296 a0001c0001t0003g0298 others(15): Show |
22 | 400 | 0.0550 | 15 | c.129 others(32): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
KPNA1_chr3_122416902_122519939 | 122496319 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0314 | 1 | 400 | 0.0025 | 15 | c.129 others(30): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
KPNA1_chr3_122416902_122519939 | 122496349 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 400 | 0.0025 | 15 | c.129 others(28): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
KPNA2_chr17_68030735_68051854 | 68051133 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 340 | 0.0059 | 15 | c.*45 others(26): Show |
KPNA2 | ENSG00000182481.10 | transcript | ENST00000330459.8 | protein_coding | 4280 | chr17 | TogoVar | |||||||
KPNA3_chr13_49694320_49797682 | 49730519 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0197 | 1 | 376 | 0.0027 | 15 | c.383 others(32): Show |
KPNA3 | ENSG00000102753.10 | transcript | ENST00000261667.8 | protein_coding | 6/16 | chr13 | TogoVar | |||||||
KPNA4_chr3_160490007_160570571 | 160519801 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02976.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0104 a0001c0003t0004g0107 a0001c0003t0004g0108 |
3 | 308 | 0.0097 | 15 | c.903 others(32): Show |
KPNA4 | ENSG00000186432.10 | transcript | ENST00000334256.9 | protein_coding | 11/16 | chr3 | TogoVar | |||||||
KPNA4_chr3_160490007_160570571 | 160534718 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG01358.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0040 | a0001c0001t0003g0014 a0001c0001t0003g0024 a0001c0001t0003g0027 others(3): Show |
6 | 308 | 0.0195 | 15 | c.287 others(30): Show |
KPNA4 | ENSG00000186432.10 | transcript | ENST00000334256.9 | protein_coding | 5/16 | chr3 | TogoVar | |||||||
KPNA5_chr6_116676211_116746867 | 116690082 | C | CTTCTATT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(117): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(24): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(111): Show |
120 | 344 | 0.3488 | 15 | c.138 others(30): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KPNA5_chr6_116676211_116746867 | 116710873 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 344 | 0.0029 | 15 | c.657 others(32): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
KPNA5_chr6_116676211_116746867 | 116710894 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00673.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0030 others(18): Show |
22 | 344 | 0.0640 | 15 | c.657 others(32): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
KPNA5_chr6_116676211_116746867 | 116730152 | T | TCTTGGCT others(8): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 344 | 0.0029 | 15 | c.143 others(32): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KPNA6_chr1_32103056_32181563 | 32136181 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01981.hp2 NA18939.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0032 others(3): Show |
6 | 244 | 0.0246 | 15 | c.5-1 others(30): Show |
KPNA6 | ENSG00000025800.14 | transcript | ENST00000373625.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KPNA6_chr1_32103056_32181563 | 32141375 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 244 | 0.0041 | 15 | c.5-1 others(30): Show |
KPNA6 | ENSG00000025800.14 | transcript | ENST00000373625.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99205301 | C | CCTGTAGT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00733.hp2 others(43): Show |
a0001a0006a0007 | a0001c0004a0001c0005a0006c0012others(1): Show | a0001c0004t0001a0001c0004t0003a0001c0005t0001others(2): Show | a0001c0004t0001g0005 a0001c0004t0001g0006 a0001c0004t0001g0022 others(41): Show |
46 | 334 | 0.1377 | 15 | c.67- others(30): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
KPNB1_chr17_47644919_47690505 | 47675361 | G | GTTTTTGT others(8): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0195 | 1 | 384 | 0.0026 | 15 | c.191 others(32): Show |
KPNB1 | ENSG00000108424.11 | transcript | ENST00000290158.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KPNB1_chr17_47644919_47690505 | 47675361 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18979.hp2 NA18986.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005a0001c0002t0007 | a0001c0001t0003g0230 a0001c0002t0005g0177 a0001c0002t0005g0178 others(1): Show |
4 | 384 | 0.0104 | 15 | c.191 others(32): Show |
KPNB1 | ENSG00000108424.11 | transcript | ENST00000290158.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KRAS_chr12_25200246_25255929 | 25202063 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00733.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0167 others(13): Show |
17 | 346 | 0.0491 | 15 | c.*78 others(26): Show |
KRAS | ENSG00000133703.14 | transcript | ENST00000256078.10 | protein_coding | 3182 | chr12 | TogoVar | |||||||
KRAS_chr12_25200246_25255929 | 25249591 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02572.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0278 a0001c0001t0002g0280 a0001c0001t0003g0279 others(4): Show |
7 | 346 | 0.0202 | 15 | c.-12 others(32): Show |
KRAS | ENSG00000133703.14 | transcript | ENST00000256078.10 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KRBA1_chr7_149709951_149739575 | 149738209 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 414 | 0.0024 | 15 | c.*41 others(26): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 3635 | chr7 | TogoVar | |||||||
KRBA1_chr7_149709951_149739575 | 149738211 | A | AAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 414 | 0.0024 | 15 | c.*41 others(26): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 3637 | chr7 | TogoVar | |||||||
KRBA1_chr7_149709951_149739575 | 149738211 | A | AAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0159 | 1 | 414 | 0.0024 | 15 | c.*41 others(26): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 3637 | chr7 | TogoVar | |||||||
KRBA1_chr7_149709951_149739575 | 149738211 | A | AAAAATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0119 |
2 | 414 | 0.0048 | 15 | c.*41 others(26): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 3637 | chr7 | TogoVar | |||||||
KRBA2_chr17_8353822_8381704 | 8363766 | A | ATCATACA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0066 | 1 | 388 | 0.0026 | 15 | c.*53 others(26): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 2/2 | 5367 | chr17 | TogoVar | ||||||
KRBA2_chr17_8353822_8381704 | 8374937 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02257.hp2 HG02572.hp1 others(4): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0108a0001c0002t0124others(2): Show | a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0108g0181 others(4): Show |
7 | 388 | 0.0180 | 15 | c.-21 others(30): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29145969 | G | GAGCCTGC others(8): Show |
3_prime_UTR_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0039 | 1 | 368 | 0.0027 | 15 | c.*38 others(26): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 9/9 | 3858 | chr22 | TogoVar | ||||||
KRI1_chr19_10548085_10571010 | 10570547 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 406 | 0.0049 | 15 | c.-45 others(26): Show |
KRI1 | ENSG00000129347.21 | transcript | ENST00000312962.12 | protein_coding | 4538 | chr19 | TogoVar | |||||||
KRIT1_chr7_92194413_92250914 | 92250872 | A | AAAAACAC others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 360 | 0.0028 | 15 | c.-55 others(26): Show |
KRIT1 | ENSG00000001631.17 | transcript | ENST00000394505.7 | protein_coding | 4959 | chr7 | TogoVar | |||||||
KRT10_chr17_40813117_40827614 | 40815569 | A | ATCTATCT others(8): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0019 | 1 | 426 | 0.0024 | 15 | c.*29 others(26): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 2547 | chr17 | TogoVar | |||||||
KRT10_chr17_40813117_40827614 | 40819077 | G | GCCGCCGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02257.hp2 HG03041.hp2 HG03098.hp2 others(3): Show |
a0010a0023 | a0010c0012a0023c0022 | a0010c0012t0001a0023c0022t0001 | a0010c0012t0001g0012 a0023c0022t0001g0033 |
6 | 426 | 0.0141 | 15 | c.144 others(24): Show |
p.Gly others(28): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1486/2143 | 1457/1755 | 486/584 | chr17 | TogoVar |