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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP1_chr4_6021199_6205549 | 6067609 | C | CCCCCCTG others(46): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0152 | 1 | 233 | 0.0043 | 53 | c.130 others(72): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132071900 | T | TCTTTCCT others(46): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(68): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0013others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0116a0001c0001t0002g0007a0001c0001t0002g0105others(68): Show | 71 | 158 | 0.4494 | 53 | c.-13 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160341 | T | TGGGGGCG others(46): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0013a0001c0015others(7): Show | a0001c0006t0025a0001c0013t0001a0001c0015t0001others(7): Show | a0001c0006t0025g0153a0001c0013t0001g0094a0001c0013t0001g0129others(9): Show | 12 | 158 | 0.0760 | 53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160446 | G | GCGGTGGC others(46): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0004 | a0004c0007 | a0004c0007t0012 | a0004c0007t0012g0067 | 1 | 158 | 0.0063 | 53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160446 | G | GCGGTGGC others(46): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0013 | a0001c0013t0024 | a0001c0013t0024g0078 | 1 | 158 | 0.0063 | 53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160706 | T | TGGGGAGC others(46): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02523.hp2 |
a0003 | a0003c0002a0003c0003 | a0003c0002t0001a0003c0003t0001 | a0003c0002t0001g0123a0003c0003t0001g0071 | 2 | 158 | 0.0127 | 53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160890 | C | CTGGGGAG others(46): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03540.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0006a0002c0016t0006 | a0001c0001t0006g0006a0002c0016t0006g0052a0002c0016t0006g0099 | 3 | 158 | 0.0190 | 53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161022 | T | TGGGGGCG others(46): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0006a0002c0016t0006 | a0001c0001t0006g0006a0002c0016t0006g0052 | 2 | 158 | 0.0127 | 53 | c.222 others(72): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15469361 | C | CCCCCTCT others(46): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 284 | 0.0035 | 53 | c.670 others(68): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15469361 | C | CCCCTTCT others(46): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0222 | 1 | 284 | 0.0035 | 53 | c.670 others(68): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1969298 | A | AAAATCTA others(46): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0164a0001c0001t0003g0072 | 2 | 389 | 0.0051 | 53 | c.-55 others(64): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 4378 | chr8 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62853456 | C | CATATATA others(46): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 |
a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0121a0001c0004t0012g0122 | 2 | 224 | 0.0089 | 53 | c.137 others(72): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170517776 | G | GTGAAGTG others(46): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020a0001c0001t0002g0021 | 2 | 218 | 0.0092 | 53 | c.61+ others(70): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 21519740 | G | GTGTATAT others(46): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0003 | a0001c0002t0006g0053a0001c0003t0003g0029 | 2 | 80 | 0.0250 | 53 | c.61+ others(72): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209484 | A | ATAATAAA others(46): Show |
intron_variant | MODIFIER | HG03669.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0054 | a0001c0001t0046g0122a0001c0001t0054g0106 | 2 | 260 | 0.0077 | 53 | c.963 others(72): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209789 | T | TATATATA others(46): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01496.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0142a0001c0001t0002g0196a0001c0001t0002g0201others(5): Show | 8 | 260 | 0.0308 | 53 | c.963 others(72): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178621366 | C | CTCTCTCT others(46): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03491.hp1 HG03492.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0029a0001c0001t0003g0031a0001c0001t0003g0230others(2): Show | 5 | 232 | 0.0216 | 53 | c.-68 others(72): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759380 | T | TCTCTCTC others(46): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160 | 1 | 232 | 0.0043 | 53 | c.-67 others(72): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154755488 | A | AAAGGAAG others(46): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG01975.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0081others(7): Show | a0001c0001t0001g0057a0001c0004t0001g0120a0001c0008t0081g0118others(7): Show | 10 | 238 | 0.0420 | 53 | c.144 others(74): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154755504 | G | GAAGAAAG others(46): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18906.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0003c0003t0085 | a0002c0002t0003g0137a0003c0003t0085g0158 | 2 | 238 | 0.0084 | 53 | c.144 others(74): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2738208 | G | GTGGAGTG others(46): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0076a0001c0001t0001g0156a0001c0001t0002g0007others(1): Show | 4 | 208 | 0.0192 | 53 | c.151 others(74): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73011126 | A | AAAGCTAC others(46): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0047 | 1 | 80 | 0.0125 | 53 | c.489 others(70): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD5_chr16_2677523_2714030 | 2702847 | A | AGGGGTCT others(46): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0046others(29): Show | 41 | 414 | 0.0990 | 53 | c.675 others(68): Show |
KCTD5 | ENSG00000167977.9 | transcript | ENST00000301738.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KDM4B_chr19_4964113_5158598 | 5090463 | C | CCTCTTTC others(46): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0139 | 1 | 270 | 0.0037 | 53 | c.918 others(70): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 7052909 | G | GAGAGAGA others(46): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01167.hp1 others(12): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0003c0004others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0249a0001c0002t0001g0036a0001c0002t0002g0012others(12): Show | 15 | 266 | 0.0564 | 53 | c.242 others(72): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429027 | A | ATATATAT others(46): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0004a0001c0001t0025g0064 | 2 | 386 | 0.0052 | 53 | c.-43 others(64): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4217 | chr19 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429132 | A | ATATATAT others(46): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0009 | a0005c0009t0068 | a0005c0009t0068g0044 | 1 | 386 | 0.0026 | 53 | c.-44 others(64): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4322 | chr19 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25093844 | C | CTCTCTGT others(46): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0006 | a0006c0043 | a0006c0043t0027 | a0006c0043t0027g0009 | 1 | 254 | 0.0039 | 53 | c.453 others(74): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIAA1958_chr9_112481827_112674397 | 112515259 | T | TGGGGGGG others(46): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02083.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0063 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0150others(3): Show | 6 | 308 | 0.0195 | 53 | c.-25 others(72): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KIF13A_chr6_17758693_17992635 | 17807620 | G | GAAGCATG others(46): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0036 | a0001c0036t0005 | a0001c0036t0005g0160 | 1 | 282 | 0.0036 | 53 | c.216 others(72): Show |
KIF13A | ENSG00000137177.20 | transcript | ENST00000259711.11 | protein_coding | 18/38 | chr6 | TogoVar | ||||||
KIF15_chr3_44756794_44858256 | 44829530 | A | AATATGTA others(46): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02818.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090a0001c0002t0001g0094a0001c0002t0001g0095 | 3 | 232 | 0.0129 | 53 | c.294 others(70): Show |
KIF15 | ENSG00000163808.17 | transcript | ENST00000326047.9 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KIF26B_chr1_245149985_245714432 | 245444033 | G | GCGGTCAT others(46): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0140 | 1 | 160 | 0.0063 | 53 | c.116 others(74): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 4/14 | chr1 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169738859 | T | TCCTTCCC others(46): Show |
intron_variant | MODIFIER | NA18986.hp1 NA19002.hp1 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0111 | a0001c0002t0008g0210a0001c0002t0111g0209 | 2 | 400 | 0.0050 | 53 | c.121 others(72): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLRC3_chr12_10407315_10425595 | 10420055 | A | ACCCCCCC others(46): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0072 | 1 | 448 | 0.0022 | 53 | c.188 others(66): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
KMT5A_chr12_123379132_123414353 | 123389131 | T | TGGCGGCG others(46): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 334 | 0.0030 | 53 | c.11- others(66): Show |
KMT5A | ENSG00000183955.14 | transcript | ENST00000402868.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KNDC1_chr10_133155219_133231412 | 133185912 | C | CGGGAGGA others(46): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0077 | 1 | 332 | 0.0030 | 53 | c.626 others(66): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KRT8_chr12_52892191_52910076 | 52894981 | A | AGAAAGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 386 | 0.0052 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2209 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894982 | G | GAAAGAAA others(46): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 386 | 0.0026 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2208 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894986 | G | GAAAGAAA others(46): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0006a0001c0002t0001g0037 | 7 | 386 | 0.0181 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2204 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894989 | A | AGAAAGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 386 | 0.0026 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2201 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894989 | A | AGAAAGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 386 | 0.0026 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2201 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894989 | A | AGAAAGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 386 | 0.0052 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2201 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894990 | G | GAAAGAAA others(46): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02717.hp1 others(3): Show |
a0001a0009 | a0001c0002a0009c0013 | a0001c0002t0001a0009c0013t0001 | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0026others(2): Show | 6 | 386 | 0.0155 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2200 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894993 | A | AGAAAGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 HG03209.hp1 HG03579.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0005 | a0001c0002t0001g0042a0001c0004t0005g0013 | 3 | 386 | 0.0078 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2197 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894993 | A | AGAAAGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0023 | 2 | 386 | 0.0052 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2197 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894997 | A | AGAAAGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0005 | a0001c0001t0006g0034a0001c0004t0005g0013 | 2 | 386 | 0.0052 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2193 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52894997 | A | AGAAAGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 386 | 0.0026 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2193 | chr12 | TogoVar | ||||||
KRT8_chr12_52892191_52910076 | 52895001 | A | AGAAAGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 386 | 0.0026 | 53 | c.*24 others(64): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 2189 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117793788 | C | CATGCACA others(46): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0014 | a0001c0014t0072 | a0001c0014t0072g0064 | 1 | 196 | 0.0051 | 53 | c.473 others(72): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
LAMB4_chr7_108018553_108135361 | 108025433 | T | TTTCTTTC others(46): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0231 | 1 | 292 | 0.0034 | 53 | c.514 others(72): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 33/33 | chr7 | TogoVar |