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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SULT1A2_chr16_28586943_28602050 | 28597983 | ACTGAGGC others(4060): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 415 | 0.0024 | -4067 | c.-50 others(10): Show |
SULT1A2 | ENSG00000197165.11 | transcript | ENST00000335715.9 | protein_coding | 934 | chr16 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5619548 | GAAGGAGC others(4056): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0147 | 1 | 160 | 0.0063 | -4063 | c.181 others(19): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 16/24 | chr12 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111403388 | ACACAAAT others(4056): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01516.hp1 others(36): Show |
a0002a0007 | a0002c0004a0002c0006a0002c0010others(2): Show | a0002c0004t0001a0002c0006t0001a0002c0010t0001others(2): Show | a0002c0004t0001g0303 a0002c0004t0001g0304 a0002c0004t0001g0305 others(35): Show |
39 | 352 | 0.1108 | -4063 | c.265 others(19): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122604797 | TGGGGGGC others(4053): Show |
T | exon_loss_variant | HIGH | NA18966.hp2 NA19066.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0127 a0001c0002t0004g0200 |
2 | 279 | 0.0072 | -4060 | c.369 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122613317 | CGTGGGAG others(4053): Show |
C | exon_loss_variant | HIGH | NA18955.hp1 NA18957.hp2 NA18964.hp2 others(2): Show |
a0012 | a0012c0014a0012c0047 | a0012c0014t0002a0012c0047t0001 | a0012c0014t0002g0189 a0012c0014t0002g0190 a0012c0014t0002g0191 others(2): Show |
5 | 280 | 0.0179 | -4060 | c.450 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 38/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TRIM47_chr17_75869164_75883581 | 75879289 | TCAGGTGA others(4053): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02258.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0006 a0002c0002t0003g0045 a0002c0002t0003g0046 others(1): Show |
13 | 372 | 0.0349 | -4060 | c.-48 others(10): Show |
TRIM47 | ENSG00000132481.7 | transcript | ENST00000254816.6 | protein_coding | 709 | chr17 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(4052): Show |
C | exon_loss_variant | HIGH | HG03831.hp1 HG06807.hp1 |
a0041a0042 | a0041c0069a0042c0056 | a0041c0069t0003a0042c0056t0002 | a0041c0069t0003g0243 a0042c0056t0002g0049 |
2 | 172 | 0.0116 | -4059 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(4052): Show |
T | exon_loss_variant | HIGH | HG00673.hp2 HG01081.hp2 HG01099.hp2 others(18): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0005c0006others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0157 a0001c0001t0002g0159 others(17): Show |
21 | 226 | 0.0929 | -4059 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(4052): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0046others(11): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(14): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0125 others(40): Show |
45 | 252 | 0.1786 | -4059 | c.447 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 37/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 164136368 | CTAAGTGC others(4052): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 102 | 0.0098 | -4059 | c.-32 others(21): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21104690 | ATTGCCTA others(4048): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0001g0005 a0001c0001t0011g0003 a0001c0001t0012g0045 others(2): Show |
5 | 80 | 0.0625 | -4055 | c.62- others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
ZNF490_chr19_12571100_12615813 | 12584062 | GGCCTCCC others(4047): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(40): Show | a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 others(142): Show |
147 | 364 | 0.4038 | -4054 | c.163 others(16): Show |
ZNF490 | ENSG00000188033.10 | transcript | ENST00000311437.11 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
SULT1A2_chr16_28586943_28602050 | 28597997 | TTTCCAGG others(4046): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0035 | 1 | 408 | 0.0025 | -4053 | c.-50 others(11): Show |
SULT1A2 | ENSG00000197165.11 | transcript | ENST00000335715.9 | protein_coding | 948 | chr16 | TogoVar | |||||||
WWC2_chr4_183094257_183325777 | 183226357 | AGGAAACT others(4043): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02970.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0018a0007c0009t0012 | a0001c0001t0018g0235 a0001c0001t0018g0236 a0007c0009t0012g0182 others(1): Show |
4 | 240 | 0.0167 | -4050 | c.523 others(18): Show |
WWC2 | ENSG00000151718.16 | transcript | ENST00000403733.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ZNF878_chr19_12038805_12057961 | 12053911 | GTGATCCG others(4043): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0053 |
7 | 344 | 0.0203 | -4050 | c.-51 others(11): Show |
ZNF878 | ENSG00000257446.4 | transcript | ENST00000547628.2 | protein_coding | 951 | chr19 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124449314 | CCATCTCA others(4041): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 62 | 0.0161 | -4048 | c.918 others(17): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88039225 | CGAGGTCA others(4035): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 228 | 0.0044 | -4042 | c.324 others(19): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBC1D5_chr3_17152168_17747631 | 17500138 | TCCAACTC others(4035): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01433.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(21): Show |
24 | 160 | 0.1500 | -4042 | c.97+ others(15): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 3/22 | chr3 | TogoVar | |||||||
KCNJ15_chr21_38251991_38312357 | 38279148 | AGTATTTT others(4033): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0093 | 1 | 404 | 0.0025 | -4040 | c.-11 others(21): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637052 | ACATGAGG others(4023): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 NA20300.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0073 a0001c0001t0001g0205 a0003c0005t0001g0004 |
3 | 220 | 0.0136 | -4030 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97364152 | ATATGTAG others(4022): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 147 | 0.0068 | -4029 | c.300 others(21): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148442153 | TGGTGTTT others(4020): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0185 a0001c0001t0004g0158 others(3): Show |
6 | 186 | 0.0323 | -4027 | c.-55 others(21): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113984344 | TACCCATC others(4011): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 66 | 0.0152 | -4018 | c.224 others(19): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | |||||||
HMGCLL1_chr6_55429373_55584192 | 55476844 | GGTTATAC others(4007): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0209 a0001c0001t0009g0148 a0001c0001t0009g0149 |
3 | 332 | 0.0090 | -4014 | c.795 others(19): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17499383 | ATGCGGGC others(3999): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 160 | 0.0063 | -4006 | c.97+ others(15): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 3/22 | chr3 | TogoVar | |||||||
DOCK5_chr8_25179689_25420711 | 25262880 | CATGATCT others(3996): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0009a0001c0035others(1): Show | a0001c0002t0084a0001c0009t0059a0001c0035t0044others(1): Show | a0001c0002t0084g0001 a0001c0009t0059g0008 a0001c0035t0044g0205 others(1): Show |
4 | 208 | 0.0192 | -4003 | c.128 others(17): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 2/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IHO1_chr3_49194498_49263106 | 49197178 | GACGGGGT others(3996): Show |
G | splice_donor_variant others(4): Show |
HIGH | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0007 | 1 | 196 | 0.0051 | -4003 | c.-24 others(14): Show |
IHO1 | ENSG00000173421.17 | transcript | ENST00000452691.7 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 67927714 | TGCGCCCG others(3993): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 358 | 0.0028 | -4000 | c.283 others(18): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
XYLT1_chr16_17096769_17475960 | 17381792 | GACAGTCT others(3991): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01952.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0002g0048 others(6): Show |
9 | 154 | 0.0584 | -3998 | c.364 others(19): Show |
XYLT1 | ENSG00000103489.12 | transcript | ENST00000261381.7 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
FAM118B_chr11_126206782_126267968 | 126235657 | CACAGGTG others(3988): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 344 | 0.0029 | -3995 | c.86+ others(14): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FRYL_chr4_48492357_48785279 | 48719895 | TAATCCCA others(3987): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 280 | 0.0036 | -3994 | c.-38 others(20): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 1/63 | chr4 | TogoVar | |||||||
LLPH_chr12_66111555_66135750 | 66131757 | TGGTAAAC others(3986): Show |
T | upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 362 | 0.0028 | -3993 | c.-50 others(11): Show |
LLPH | ENSG00000139233.7 | transcript | ENST00000266604.7 | protein_coding | 1008 | chr12 | TogoVar | |||||||
TALDO1_chr11_742464_770012 | 749186 | CGAGGTCA others(3984): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 414 | 0.0024 | -3991 | c.97+ others(15): Show |
TALDO1 | ENSG00000177156.11 | transcript | ENST00000319006.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89817414 | GGACCTCA others(3982): Show |
G | upstream_gene_variant | MODIFIER | NA19002.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0166 | 1 | 332 | 0.0030 | -3989 | c.-47 others(10): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 768 | chr16 | TogoVar | |||||||
TSNAXIP1_chr16_67801889_67833068 | 67816132 | ATTTTTTT others(3982): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 252 | 0.0040 | -3989 | c.147 others(16): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113982944 | TGAATTCC others(3981): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG01167.hp1 others(14): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0007t0002others(3): Show | a0001c0001t0002g0032 a0001c0002t0002g0004 a0001c0002t0002g0019 others(14): Show |
17 | 66 | 0.2576 | -3988 | c.224 others(19): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | |||||||
TTC8_chr14_88819651_88882988 | 88879012 | TAAATAAA others(3969): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 398 | 0.0025 | -3976 | c.*16 others(11): Show |
TTC8 | ENSG00000165533.19 | transcript | ENST00000380656.7 | protein_coding | 1025 | chr14 | TogoVar | |||||||
DOCK5_chr8_25179689_25420711 | 25209162 | AGGCTCAG others(3967): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(70): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0147 others(90): Show |
93 | 208 | 0.4471 | -3974 | c.43+ others(17): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181682014 | TGGCAATG others(3961): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0009 | a0001c0009t0040 | a0001c0009t0040g0141 | 1 | 204 | 0.0049 | -3968 | c.105 others(21): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1370823 | ATCTCCAA others(3958): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 108 | 0.0093 | -3965 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FRYL_chr4_48492357_48785279 | 48716258 | AGCCAAAA others(3956): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01074.hp1 others(10): Show |
a0001 | a0001c0003a0001c0023 | a0001c0003t0003a0001c0003t0013a0001c0023t0003 | a0001c0003t0003g0217 a0001c0003t0003g0218 a0001c0003t0003g0221 others(10): Show |
13 | 280 | 0.0464 | -3963 | c.-38 others(19): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 1/63 | chr4 | TogoVar | |||||||
IKBKB_chr8_42266302_42337460 | 42332913 | GCTTGAAC others(3956): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(142): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(129): Show |
145 | 276 | 0.5254 | -3963 | c.*19 others(11): Show |
IKBKB | ENSG00000104365.16 | transcript | ENST00000520810.6 | protein_coding | 454 | chr8 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1369914 | GGGCCTCA others(3955): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 113 | 0.0088 | -3962 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPATA21_chr1_16393643_16442424 | 16424661 | ACCTCAGC others(3955): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02074.hp1 HG02155.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show |
4 | 350 | 0.0114 | -3962 | c.34+ others(15): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129573768 | GATAACAG others(3954): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 92 | 0.0109 | -3961 | c.969 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1369427 | CGTCTCCA others(3952): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 113 | 0.0088 | -3959 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1372331 | TAAGCCGC others(3952): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(29): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0100 others(29): Show |
32 | 113 | 0.2832 | -3959 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1369419 | GAAGACGG others(3951): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 113 | 0.0088 | -3958 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | |||||||
KEAP1_chr19_10481125_10508356 | 10481654 | CGTGGCTC others(3945): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG02135.hp2 NA18945.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0026 a0001c0002t0003g0031 a0001c0002t0003g0057 others(7): Show |
12 | 390 | 0.0308 | -3952 | c.*10 others(11): Show |
KEAP1 | ENSG00000079999.14 | transcript | ENST00000171111.10 | protein_coding | 4470 | chr19 | TogoVar | |||||||
NSMCE2_chr8_125086860_125372120 | 125096672 | GTGATCTC others(3944): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 242 | 0.0041 | -3951 | c.-11 others(19): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |