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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HGSNAT_chr8_43135464_43207855 | 43179666 | T | TCCCCCCA others(92): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 16 | 0.0625 | 99 | c.101 others(118): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43179666 | T | TCCCCCCA others(92): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(186): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(166): Show |
189 | 204 | 0.9265 | 99 | c.101 others(118): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43179684 | G | GGACGGGG others(92): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 232 | 0.0043 | 99 | c.101 others(118): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181124 | A | AGAGGGAG others(92): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 216 | 0.0046 | 99 | c.101 others(118): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27613124 | T | TTTTATAT others(92): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 313 | 0.0032 | 99 | c.484 others(118): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948902 | G | GGGGAGGG others(92): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 284 | 0.0035 | 99 | c.-38 others(110): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3641 | chr12 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948917 | G | GGGGGGAG others(92): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 209 | 0.0048 | 99 | c.-38 others(110): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3626 | chr12 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948922 | G | GGAGGGGG others(92): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 377 | 0.0027 | 99 | c.-38 others(110): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3621 | chr12 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86307971 | A | ATATTATG others(92): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02074.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0263 a0001c0001t0001g0264 |
3 | 77 | 0.0390 | 99 | c.268 others(116): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12168033 | T | TACATATG others(92): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03453.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0098 a0001c0005t0001g0099 |
2 | 297 | 0.0067 | 99 | c.*35 others(110): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3035 | chr6 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280783 | A | ATTTTTTT others(92): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0090 | 1 | 384 | 0.0026 | 99 | c.41- others(114): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCCTC others(92): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0001 | 1 | 146 | 0.0068 | 99 | c.*26 others(110): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(92): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 288 | 0.0035 | 99 | c.-25 others(116): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399289 | C | CCACCACC others(92): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0214 | 1 | 297 | 0.0034 | 99 | c.-25 others(116): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399397 | T | TCACCATC others(92): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18982.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0074 a0001c0001t0001g0090 others(1): Show |
4 | 227 | 0.0176 | 99 | c.-25 others(116): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399457 | C | CCACCACC others(92): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0181 |
2 | 259 | 0.0077 | 99 | c.-25 others(116): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22819001 | C | CCCTCCCT others(92): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 297 | 0.0034 | 99 | c.485 others(116): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015461 | T | TGGACCTG others(92): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 38 | 0.0263 | 99 | c.*40 others(110): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3448 | chr10 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015461 | T | TGGACCTG others(92): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 NA18995.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0014 | a0001c0001t0005g0026 a0001c0004t0014g0102 |
2 | 39 | 0.0513 | 99 | c.*40 others(110): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3448 | chr10 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015480 | G | GCTGAGCC others(92): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 64 | 0.0156 | 99 | c.*40 others(110): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3429 | chr10 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015513 | T | TCTGAGCC others(92): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01167.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0157 a0001c0001t0005g0014 others(13): Show |
28 | 367 | 0.0763 | 99 | c.*40 others(110): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3396 | chr10 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015528 | G | GGGGCTGG others(92): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0170 | 1 | 432 | 0.0023 | 99 | c.*39 others(110): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3381 | chr10 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015560 | C | CGGGGCTG others(92): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0006 | 1 | 381 | 0.0026 | 99 | c.*39 others(110): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3349 | chr10 | TogoVar | |||||||
IFITM10_chr11_1727406_1755595 | 1754525 | G | GGGGATGT others(92): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 214 | 0.0047 | 99 | c.-40 others(110): Show |
IFITM10 | ENSG00000244242.2 | transcript | ENST00000340134.5 | protein_coding | 3931 | chr11 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323582 | G | GAATATAT others(92): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0170 | 1 | 298 | 0.0034 | 99 | c.-14 others(110): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1387 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323582 | G | GAATATAT others(92): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 298 | 0.0034 | 99 | c.-14 others(110): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1387 | chr21 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599690 | G | GGGAGGGA others(92): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 185 | 0.0054 | 99 | c.369 others(116): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IGSF21_chr1_18102798_18383483 | 18254311 | C | CCATTCAC others(92): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0085 a0001c0001t0001g0134 others(6): Show |
9 | 246 | 0.0366 | 99 | c.183 others(118): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 105292922 | G | GCCAATAT others(92): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 141 | 0.0071 | 99 | c.697 others(118): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 110844693 | T | TAGCGCAC others(92): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 39 | 0.0256 | 99 | c.408 others(118): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132578537 | C | CCAGGAGA others(92): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 202 | 0.0050 | 99 | c.76- others(116): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INVS_chr9_100094243_100307175 | 100101010 | T | TTATATAT others(92): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0007 | a0007c0006 | a0007c0006t0018 | a0007c0006t0018g0099 | 1 | 180 | 0.0056 | 99 | c.-25 others(116): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55456189 | A | ATCTGAGG others(92): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00673.hp2 others(61): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 others(27): Show |
64 | 249 | 0.2570 | 99 | c.138 others(113): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7593343 | A | ACTGCAGC others(92): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 NA19077.hp2 others(2): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0012a0005c0025others(2): Show | a0001c0001t0001a0003c0012t0001a0005c0025t0004others(2): Show | a0001c0001t0001g0178 a0003c0012t0001g0051 a0005c0025t0004g0264 others(2): Show |
5 | 327 | 0.0153 | 99 | c.940 others(116): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7593373 | C | CAGACTGC others(92): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02523.hp2 HG03195.hp2 |
a0001a0003a0008 | a0001c0023a0003c0005a0008c0014 | a0001c0023t0001a0003c0005t0001a0008c0014t0033 | a0001c0023t0001g0032 a0003c0005t0001g0146 a0008c0014t0033g0190 |
3 | 332 | 0.0090 | 99 | c.940 others(116): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7593376 | A | ACTGCAGC others(92): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp2 others(50): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0061a0001c0067others(14): Show | a0001c0001t0001a0001c0001t0018a0001c0061t0044others(24): Show | a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0060 others(50): Show |
53 | 303 | 0.1749 | 99 | c.940 others(116): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7593421 | C | CAGCCCCA others(92): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01256.hp2 others(5): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0080a0002c0015others(5): Show | a0001c0001t0001a0001c0080t0001a0002c0015t0001others(5): Show | a0001c0001t0001g0017 a0001c0080t0001g0289 a0002c0015t0001g0286 others(5): Show |
8 | 339 | 0.0236 | 99 | c.940 others(116): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7593508 | A | ACTGCAGC others(92): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0184 | 1 | 91 | 0.0110 | 99 | c.940 others(116): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7593508 | A | ACTGCAGC others(92): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0007 | a0007c0011 | a0007c0011t0007 | a0007c0011t0007g0083 | 1 | 91 | 0.0110 | 99 | c.940 others(116): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26785555 | G | GGGGGGGG others(92): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0125 | 1 | 139 | 0.0072 | 99 | c.163 others(116): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26785555 | G | GGGGGGGG others(92): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0024 | a0001c0024t0021 | a0001c0024t0021g0124 | 1 | 139 | 0.0072 | 99 | c.163 others(116): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26785653 | T | TGGGGGGG others(92): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01192.hp2 others(14): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0021others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0008others(13): Show | a0001c0001t0002g0034 a0001c0001t0003g0035 a0001c0002t0008g0036 others(14): Show |
17 | 115 | 0.1478 | 99 | c.163 others(116): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
IZUMO3_chr9_24537952_24550897 | 24546444 | C | CTTTCTTT others(92): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 407 | 0.0025 | 99 | c.-79 others(108): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 548 | chr9 | TogoVar | |||||||
IZUMO3_chr9_24537952_24550897 | 24546521 | C | CTTTTCTT others(92): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 412 | 0.0024 | 99 | c.-87 others(108): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 625 | chr9 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764930 | G | GAAAGAAA others(92): Show |
intron_variant | MODIFIER | NA19070.hp1 NA19070.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0019a0001c0003t0014 | a0001c0002t0019g0224 a0001c0003t0014g0225 |
2 | 204 | 0.0098 | 99 | c.-14 others(120): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1991071 | G | GGGGCCTT others(92): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 384 | 0.0026 | 99 | c.-90 others(118): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20932019 | C | CAGTCTAA others(92): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013 | a0001c0001t0012g0045 a0001c0001t0013g0059 |
2 | 72 | 0.0278 | 99 | c.62- others(116): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234070 | A | ATATAACA others(92): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 68 | 0.0147 | 99 | c.62- others(118): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234070 | A | ATATAACA others(92): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 68 | 0.0147 | 99 | c.62- others(118): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429111 | T | TATATATA others(92): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 381 | 0.0052 | 99 | c.-44 others(110): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4301 | chr19 | TogoVar |