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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAALADL2_chr3_174854334_175815548 | 175132405 | CCTCCCCG others(115): Show |
C | intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0004 | a0003c0004t0036 | a0003c0004t0036g0047 | 1 | 64 | 0.0156 | -122 | c.545 others(19): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995428 | ACTGTATA others(115): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0011a0001c0003t0010 | a0001c0001t0002g0150 a0001c0002t0011g0133 a0001c0003t0010g0147 others(2): Show |
5 | 362 | 0.0138 | -122 | c.-75 others(19): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1023652 | TGTGGGCG others(115): Show |
T | intron_variant | MODIFIER | HG02523.hp2 NA19064.hp2 NA19074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0027 a0001c0001t0007g0256 a0001c0001t0007g0259 |
4 | 319 | 0.0125 | -122 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1024718 | TGTGGGCG others(115): Show |
T | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 319 | 0.0031 | -122 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1024882 | TGTGGGCG others(115): Show |
T | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 319 | 0.0031 | -122 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
NLRP6_chr11_273407_290388 | 287357 | GGGGGAGG others(115): Show |
G | downstream_gene_variant | MODIFIER | NA18990.hp1 NA19055.hp1 NA19085.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0006 a0002c0004t0001g0053 |
3 | 446 | 0.0067 | -122 | c.*20 others(11): Show |
NLRP6 | ENSG00000174885.13 | transcript | ENST00000534750.6 | protein_coding | 1970 | chr11 | TogoVar | |||||||
NLRP6_chr11_273407_290388 | 287509 | CAGGTGCA others(115): Show |
C | downstream_gene_variant | MODIFIER | HG02698.hp1 HG03831.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0069 a0001c0003t0001g0096 |
2 | 446 | 0.0045 | -122 | c.*22 others(11): Show |
NLRP6 | ENSG00000174885.13 | transcript | ENST00000534750.6 | protein_coding | 2122 | chr11 | TogoVar | |||||||
NLRP6_chr11_273407_290388 | 287631 | AAGGTGCA others(115): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01074.hp2 others(4): Show |
a0001a0003 | a0001c0002a0001c0010a0001c0065others(1): Show | a0001c0002t0001a0001c0010t0001a0001c0065t0001others(1): Show | a0001c0002t0001g0015 a0001c0010t0001g0008 a0001c0010t0001g0099 others(2): Show |
7 | 446 | 0.0157 | -122 | c.*23 others(11): Show |
NLRP6 | ENSG00000174885.13 | transcript | ENST00000534750.6 | protein_coding | 2244 | chr11 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108163892 | GGGTGGGG others(115): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0166 | 1 | 208 | 0.0048 | -122 | c.346 others(19): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17463800 | GGAGAAGG others(115): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp2 NA19240.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0008 a0003c0003t0003g0033 |
2 | 408 | 0.0049 | -122 | c.-30 others(11): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2875 | chr19 | TogoVar | |||||||
ODAD3_chr19_11415605_11440121 | 11425027 | GTGCATAT others(115): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 398 | 0.0025 | -122 | c.963 others(15): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133458236 | GTATATAT others(115): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0035 |
2 | 68 | 0.0294 | -122 | c.61+ others(17): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OR1L3_chr9_122670130_122681104 | 122679065 | ACTATATT others(115): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0000 | 1 | 380 | 0.0026 | -122 | c.*29 others(11): Show |
OR1L3 | ENSG00000171481.5 | transcript | ENST00000304820.5 | protein_coding | 2962 | chr9 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686179 | CCTCCCAG others(115): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 NA19083.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0310 a0002c0002t0001g0122 a0003c0004t0001g0028 |
3 | 362 | 0.0083 | -122 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 307243 | GCGTGTGT others(115): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01099.hp2 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0003a0001c0001t0005a0002c0004t0003others(1): Show | a0001c0001t0003g0310 a0001c0001t0005g0019 a0001c0001t0005g0270 others(21): Show |
26 | 360 | 0.0722 | -122 | c.367 others(15): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165575781 | CTAAAATC others(115): Show |
C | intron_variant | MODIFIER | HG03195.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0008 | a0001c0001t0001g0148 a0001c0023t0008g0147 |
2 | 222 | 0.0090 | -122 | c.866 others(19): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
PGGHG_chr11_284126_301107 | 287357 | GGGGGAGG others(115): Show |
G | upstream_gene_variant | MODIFIER | NA18990.hp2 NA18991.hp2 NA19055.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 4 | 450 | 0.0089 | -122 | c.-18 others(11): Show |
PGGHG | ENSG00000142102.16 | transcript | ENST00000409548.7 | protein_coding | 1768 | chr11 | TogoVar | |||||||
PGGHG_chr11_284126_301107 | 287509 | CAGGTGCA others(115): Show |
C | upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 450 | 0.0022 | -122 | c.-17 others(11): Show |
PGGHG | ENSG00000142102.16 | transcript | ENST00000409548.7 | protein_coding | 1616 | chr11 | TogoVar | |||||||
PGGHG_chr11_284126_301107 | 287631 | AAGGTGCA others(115): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01361.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 450 | 0.0111 | -122 | c.-16 others(11): Show |
PGGHG | ENSG00000142102.16 | transcript | ENST00000409548.7 | protein_coding | 1494 | chr11 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13231075 | GGAAGGAA others(115): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 108 | 0.0093 | -122 | c.139 others(18): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHLDA2_chr11_2923273_2934420 | 2923278 | GCTCAGGG others(115): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02723.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 13 | 375 | 0.0347 | -122 | c.*52 others(11): Show |
PHLDA2 | ENSG00000181649.8 | transcript | ENST00000314222.5 | protein_coding | 4994 | chr11 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229138993 | AAGAAAGA others(115): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0072 a0001c0001t0013g0074 |
2 | 256 | 0.0078 | -122 | c.177 others(19): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88736422 | AGGGCTGC others(115): Show |
A | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0276 | 1 | 282 | 0.0036 | -122 | c.129 others(15): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 11/50 | chr16 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401351 | GGCCCCGC others(115): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG02004.hp1 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 |
3 | 216 | 0.0139 | -122 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50285593 | CACCTGAG others(115): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0096 | 1 | 302 | 0.0033 | -122 | c.208 others(16): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149809115 | TTAGATAG others(115): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0055 | 1 | 320 | 0.0031 | -122 | c.79- others(17): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809289 | CATAGATA others(115): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0030 | 1 | 320 | 0.0031 | -122 | c.79- others(17): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPIA_chr7_44791681_44808117 | 44805741 | ATACTTGC others(115): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 430 | 0.0023 | -122 | c.*43 others(11): Show |
PPIA | ENSG00000196262.15 | transcript | ENST00000468812.6 | protein_coding | 2625 | chr7 | TogoVar | |||||||
PPP2R5C_chr14_101756709_101932977 | 101923805 | ACTTTACA others(115): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01258.hp1 HG01884.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0012a0001c0003t0002others(2): Show | a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0037 others(19): Show |
22 | 138 | 0.1594 | -122 | c.160 others(19): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | chr14 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50345158 | CCCCCCAG others(115): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03139.hp2 |
a0003a0009 | a0003c0006a0009c0032 | a0003c0006t0008a0009c0032t0027 | a0003c0006t0008g0215 a0009c0032t0027g0069 |
2 | 340 | 0.0059 | -122 | c.-14 others(19): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3299300 | ATGATGTT others(115): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(92): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0055 a0001c0001t0001g0096 a0001c0001t0001g0119 others(92): Show |
95 | 210 | 0.4524 | -122 | c.438 others(19): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3300154 | GTGATGTT others(115): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 210 | 0.0048 | -122 | c.438 others(19): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3300286 | CGATCCCA others(115): Show |
C | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0056 | a0001c0001t0007g0054 a0001c0001t0056g0204 |
2 | 210 | 0.0095 | -122 | c.438 others(19): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRIMPOL_chr4_184644738_184699952 | 184652913 | AGGGAAGG others(115): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(37): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0313 others(35): Show |
40 | 328 | 0.1220 | -122 | c.-60 others(15): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 2/13 | chr4 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66587663 | ATATACAT others(115): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0002g0061 others(54): Show |
57 | 178 | 0.3202 | -122 | c.289 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122146 | TTAGGGTC others(115): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 286 | 0.0035 | -122 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51553830 | TAATATAT others(115): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01496.hp2 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0002a0003c0009t0001 | a0001c0001t0002g0036 a0003c0009t0001g0049 |
2 | 64 | 0.0313 | -122 | c.592 others(19): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | chr10 | TogoVar | |||||||
PTGR1_chr9_111557567_111604647 | 111560988 | GAGAGAGA others(115): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02698.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0077 a0002c0002t0002g0217 a0002c0002t0002g0222 |
3 | 408 | 0.0074 | -122 | c.*20 others(11): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1578 | chr9 | TogoVar | |||||||
RAD21L1_chr20_1221044_1260876 | 1259234 | CTAATATA others(115): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 364 | 0.0028 | -122 | c.*47 others(11): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 3359 | chr20 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114103621 | CCGACCAC others(115): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(3): Show |
6 | 67 | 0.0896 | -122 | c.55+ others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
REM1_chr20_31470288_31489895 | 31470438 | CCCACCTC others(115): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 344 | 0.0029 | -122 | c.-51 others(11): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 4849 | chr20 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56110399 | CGCCCCGT others(115): Show |
C | intron_variant | MODIFIER | NA18971.hp1 NA18972.hp1 NA18980.hp1 others(3): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0002a0004c0008t0002a0004c0008t0040 | a0001c0002t0002g0074 a0004c0008t0002g0041 a0004c0008t0002g0110 others(3): Show |
6 | 360 | 0.0167 | -122 | c.402 others(17): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
RGS20_chr8_53846795_53964303 | 53948674 | ATATAAGA others(115): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02055.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002 | a0001c0001t0002g0020 a0001c0001t0002g0038 a0001c0001t0002g0168 others(9): Show |
12 | 258 | 0.0465 | -122 | c.743 others(17): Show |
RGS20 | ENSG00000147509.14 | transcript | ENST00000297313.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RGS20_chr8_53846795_53964303 | 53948705 | ATATAAGA others(115): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0179 |
2 | 258 | 0.0078 | -122 | c.743 others(17): Show |
RGS20 | ENSG00000147509.14 | transcript | ENST00000297313.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RNF4_chr4_2464106_2520857 | 2511216 | TAAGGTCC others(115): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01975.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0101 a0001c0001t0001g0164 a0001c0001t0001g0298 others(16): Show |
19 | 378 | 0.0503 | -122 | c.205 others(15): Show |
RNF4 | ENSG00000063978.17 | transcript | ENST00000314289.13 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60816010 | AAGTATTT others(115): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0017 | 1 | 118 | 0.0085 | -122 | c.167 others(21): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84191743 | TATATATA others(115): Show |
T | upstream_gene_variant | MODIFIER | HG01943.hp1 HG02735.hp1 HG03688.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0042a0001c0001t0072others(2): Show | a0001c0001t0005g0002 a0001c0001t0042g0069 a0001c0001t0072g0184 others(2): Show |
5 | 272 | 0.0184 | -122 | c.-39 others(11): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3545 | chrX | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74990984 | CTCTTTCT others(115): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp2 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0027 a0001c0002t0006g0053 |
2 | 370 | 0.0054 | -122 | c.-47 others(11): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4578 | chr15 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74990996 | CTTTCTTT others(115): Show |
C | upstream_gene_variant | MODIFIER | NA18992.hp2 NA19066.hp2 NA19082.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0244 |
4 | 370 | 0.0108 | -122 | c.-47 others(11): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4566 | chr15 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38877198 | ATATATAT others(115): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 314 | 0.0032 | -122 | c.339 others(19): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar |