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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GPI_chr19_34360196_34407413 | 34386255 | GGTGTGGT others(46): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG02055.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0024a0001c0003t0003 | a0001c0001t0009g0030 a0001c0001t0024g0182 a0001c0003t0003g0125 |
4 | 312 | 0.0128 | -53 | c.804 others(70): Show |
GPI | ENSG00000105220.17 | transcript | ENST00000356487.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GPR39_chr2_132411805_132651582 | 132463321 | GTATTACA others(46): Show |
G | intron_variant | MODIFIER | HG02055.hp2 NA19043.hp1 |
a0002a0009 | a0002c0002a0009c0011 | a0002c0002t0001a0009c0011t0001 | a0002c0002t0001g0042 a0009c0011t0001g0041 |
2 | 208 | 0.0096 | -53 | c.856 others(72): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPRC5D_chr12_12935575_12957170 | 12944747 | TCCTTCCT others(46): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 404 | 0.0025 | -53 | c.896 others(70): Show |
GPRC5D | ENSG00000111291.9 | transcript | ENST00000228887.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
GPSM2_chr1_108871985_108939545 | 108873396 | ATATATAT others(46): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0047 | 1 | 258 | 0.0039 | -53 | c.-40 others(64): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3588 | chr1 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46630849 | GGTGTGCC others(46): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(100): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0115 a0001c0001t0001g0151 a0001c0001t0001g0152 others(99): Show |
103 | 326 | 0.3160 | -53 | c.162 others(70): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GSAP_chr7_77305751_77421349 | 77421193 | CCTTTCCT others(46): Show |
C | upstream_gene_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0323 | 1 | 350 | 0.0029 | -53 | c.-49 others(64): Show |
GSAP | ENSG00000186088.16 | transcript | ENST00000257626.12 | protein_coding | 4845 | chr7 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144182800 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0095 a0001c0001t0002g0009 a0001c0001t0002g0020 others(34): Show |
37 | 122 | 0.3033 | -53 | c.179 others(72): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 306222 | GCAGATTA others(46): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0003g0028 others(1): Show |
4 | 153 | 0.0261 | -53 | c.142 others(72): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 9/9 | chrX | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696993 | GTGTATAT others(46): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 a0001c0002t0001g0129 |
2 | 233 | 0.0086 | -53 | c.-59 others(62): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 395 | chr12 | TogoVar | |||||||
HBP1_chr7_107164003_107207522 | 107198067 | TGCATTCT others(46): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 366 | 0.0027 | -53 | c.138 others(72): Show |
HBP1 | ENSG00000105856.14 | transcript | ENST00000222574.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45372062 | ATATTATA others(46): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01169.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0013a0001c0001t0023others(4): Show | a0001c0001t0006g0064 a0001c0001t0013g0078 a0001c0001t0013g0079 others(6): Show |
9 | 224 | 0.0402 | -53 | c.123 others(74): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124736 | TGCGTTAT others(46): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 196 | 0.0051 | -53 | c.153 others(72): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239232874 | CCAAGCCA others(46): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0057 | 1 | 234 | 0.0043 | -53 | c.94+ others(68): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HES6_chr2_238233267_238245038 | 238235433 | GGGGCGGC others(46): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | -53 | c.*33 others(64): Show |
HES6 | ENSG00000144485.11 | transcript | ENST00000272937.10 | protein_coding | 2833 | chr2 | TogoVar | |||||||
HGFAC_chr4_3436968_3454486 | 3440721 | CCCCCAGG others(46): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01884.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(8): Show |
31 | 452 | 0.0686 | -53 | c.-12 others(64): Show |
HGFAC | ENSG00000109758.9 | transcript | ENST00000382774.8 | protein_coding | 1246 | chr4 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12168011 | TGTACATG others(46): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp1 HG03579.hp2 HG06807.hp2 |
a0014a0022 | a0014c0017a0022c0027 | a0014c0017t0001a0022c0027t0001 | a0014c0017t0001g0256 a0014c0017t0001g0258 a0022c0027t0001g0203 |
3 | 340 | 0.0088 | -53 | c.*35 others(64): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3013 | chr6 | TogoVar | |||||||
HLA-C_chr6_31263749_31277092 | 31274309 | CTCACCTC others(46): Show |
C | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0008 | 1 | 448 | 0.0022 | -53 | c.-22 others(64): Show |
HLA-C | ENSG00000204525.18 | transcript | ENST00000376228.10 | protein_coding | 2218 | chr6 | TogoVar | |||||||
HMOX1_chr22_35376096_35399207 | 35389288 | TCTTCTTT others(46): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 275 | 0.0036 | -53 | c.637 others(68): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
HOXC10_chr12_53980146_53995279 | 53990294 | TTTTTAGT others(46): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 372 | 0.0027 | -53 | c.*84 others(62): Show |
HOXC10 | ENSG00000180818.5 | transcript | ENST00000303460.5 | protein_coding | 16 | chr12 | TogoVar | |||||||
HOXD3_chr2_176152307_176178098 | 176165979 | AACTATAT others(46): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 330 | 0.0030 | -53 | c.-85 others(70): Show |
HOXD3 | ENSG00000128652.12 | transcript | ENST00000683222.1 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
HSD17B6_chr12_56758324_56792790 | 56789467 | TCCTCCCT others(46): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 356 | 0.0028 | -53 | c.*21 others(64): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 1678 | chr12 | TogoVar | |||||||
HTR5A_chr7_155065324_155092392 | 155089434 | TGGGTGGG others(46): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01168.hp1 HG04204.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 3 | 428 | 0.0070 | -53 | c.*49 others(64): Show |
HTR5A | ENSG00000157219.5 | transcript | ENST00000287907.3 | protein_coding | 2043 | chr7 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322040 | TACGTATA others(46): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0003a0002c0002t0002a0002c0002t0016others(2): Show | a0001c0001t0003g0032 a0001c0001t0003g0171 a0001c0001t0003g0174 others(24): Show |
29 | 210 | 0.1381 | -53 | c.-30 others(64): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2929 | chr21 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(46): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00738.hp2 others(4): Show |
a0001a0003a0020others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0006a0001c0002t0011a0001c0004t0047others(3): Show | a0001c0001t0006g0308 a0001c0002t0011g0123 a0001c0002t0011g0163 others(4): Show |
7 | 27 | 0.2593 | -53 | c.684 others(72): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IL23R_chr1_67161454_67264979 | 67263577 | TTTCAAAA others(46): Show |
T | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0001 | 1 | 290 | 0.0034 | -53 | c.*44 others(64): Show |
IL23R | ENSG00000162594.17 | transcript | ENST00000347310.10 | protein_coding | 3599 | chr1 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1367144 | GGGTGAGC others(46): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 113 | 0.0088 | -53 | c.874 others(70): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132704869 | AGCAGGCA others(46): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(4): Show | a0001c0001t0001g0054 a0001c0001t0001g0116 a0001c0001t0001g0126 others(39): Show |
42 | 196 | 0.2143 | -53 | c.475 others(70): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132771725 | CAGACACT others(46): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 200 | 0.0050 | -53 | c.977 others(70): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | |||||||
INSC_chr11_15109923_15252208 | 15229948 | TTATATAT others(46): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0237 | 1 | 266 | 0.0038 | -53 | c.117 others(72): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15229970 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 266 | 0.0038 | -53 | c.117 others(72): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | chr11 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357918 | TAATATAT others(46): Show |
T | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 258 | 0.0039 | -53 | c.-13 others(64): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1116 | chr6 | TogoVar | |||||||
IQCH_chr15_67249786_67506804 | 67505064 | CGACAGCA others(46): Show |
C | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 274 | 0.0036 | -53 | c.*43 others(64): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 3261 | chr15 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76496702 | CTCTTTCT others(46): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0087 | 1 | 186 | 0.0054 | -53 | c.146 others(72): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37511999 | TTTTCTTT others(46): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01255.hp2 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0073 a0001c0001t0001g0125 a0001c0001t0002g0043 others(12): Show |
15 | 166 | 0.0904 | -53 | c.898 others(70): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512112 | CCTTCCTT others(46): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0021 | a0001c0001t0004g0026 a0001c0001t0021g0037 |
2 | 158 | 0.0127 | -53 | c.898 others(70): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512113 | CTTCCTTC others(46): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 148 | 0.0068 | -53 | c.898 others(70): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33876194 | TTTCTCCT others(46): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00741.hp1 others(74): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(60): Show | a0001c0001t0002g0117 a0001c0001t0003g0072 a0001c0001t0004g0074 others(74): Show |
77 | 240 | 0.3208 | -53 | c.434 others(70): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAG1_chr20_10632684_10678999 | 10663145 | GCCAAGAC others(46): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0325 | 1 | 410 | 0.0024 | -53 | c.439 others(68): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 3/25 | chr20 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6067609 | CCCCCCTG others(46): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 231 | 0.0043 | -53 | c.130 others(72): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132103403 | TGGGGGAG others(46): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02630.hp1 others(3): Show |
a0001a0002 | a0001c0006a0001c0022a0002c0010others(1): Show | a0001c0006t0016a0001c0022t0002a0002c0010t0009others(1): Show | a0001c0006t0016g0147 a0001c0022t0002g0080 a0002c0010t0009g0086 others(3): Show |
6 | 156 | 0.0385 | -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 | 132149760 | CCCCGCCC others(46): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0040 | 1 | 156 | 0.0064 | -53 | c.194 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132149775 | CCCCTGCC others(46): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00597.hp1 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0015a0001c0040others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0036others(22): Show | a0001c0001t0002g0133 a0001c0001t0004g0128 a0001c0001t0036g0014 others(35): Show |
38 | 151 | 0.2517 | -53 | c.194 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160033 | CCTCTTCC others(46): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01258.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0042others(6): Show | a0001c0001t0003a0001c0001t0008a0001c0006t0033others(8): Show | a0001c0001t0003g0097 a0001c0001t0008g0098 a0001c0001t0008g0143 others(13): Show |
16 | 132 | 0.1212 | -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 | 132160353 | TCCTGTGT others(46): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03098.hp1 |
a0001a0002 | a0001c0019a0002c0029 | a0001c0019t0014a0002c0029t0014 | a0001c0019t0014g0085 a0002c0029t0014g0053 |
2 | 147 | 0.0136 | -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 | 132160957 | CCTGTGTG others(46): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01258.hp1 |
a0005 | a0005c0012 | a0005c0012t0007 | a0005c0012t0007g0045 a0005c0012t0007g0046 a0005c0012t0007g0048 |
3 | 151 | 0.0199 | -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 | 132161439 | TGGGGAGC others(46): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG03041.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0082 a0001c0006t0003g0083 |
2 | 154 | 0.0130 | -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 | 15245410 | GGAGGGGA others(46): Show |
G | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0150 | 1 | 282 | 0.0035 | -53 | c.-11 others(64): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 658 | chr6 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1974423 | TCCCGGGG others(46): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0312 | 1 | 388 | 0.0026 | -53 | c.-90 others(70): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79893392 | CTTCATTG others(46): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 a0001c0001t0001g0298 |
2 | 310 | 0.0065 | -53 | c.625 others(70): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21528739 | GAAAGAAA others(46): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 80 | 0.0125 | -53 | c.61+ others(72): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar |