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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD12_chr8_118372984_118626963 | 118469545 | T | TAATATAT others(492): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 188 | 0.0053 | 499 | c.193 others(518): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27919292 | G | GGGAGGAG others(492): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0089 | 1 | 314 | 0.0032 | 499 | c.916 others(516): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(492): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 290 | 0.0069 | 499 | c.464 others(512): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43281197 | T | TCTCAGCC others(492): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0198 | 1 | 280 | 0.0036 | 499 | c.484 others(516): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401147 | A | ACCCGCCC others(492): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 242 | 0.0041 | 499 | c.*47 others(510): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4568 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35403936 | G | GGCAAAGG others(492): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0074 | a0001c0001t0003g0108 a0001c0002t0074g0110 |
2 | 306 | 0.0065 | 499 | c.17+ others(516): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35403936 | G | GGCAAAGG others(492): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG02486.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(9): Show | a0001c0001t0002g0093 a0001c0001t0003g0124 a0001c0001t0003g0125 others(15): Show |
18 | 306 | 0.0588 | 499 | c.17+ others(516): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(492): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0048 | 1 | 222 | 0.0045 | 499 | c.914 others(518): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203230 | A | AAAGAGAG others(492): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0001 | a0002c0001t0030 | a0002c0001t0030g0031 | 1 | 188 | 0.0053 | 499 | c.*83 others(510): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3943 | chr8 | TogoVar | |||||||
STAB2_chr12_103582273_103771719 | 103768604 | G | GGGGAGGG others(492): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0009 | 1 | 256 | 0.0039 | 499 | c.*22 others(510): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1886 | chr12 | TogoVar | |||||||
STAB2_chr12_103582273_103771719 | 103768604 | G | GGGGAGGG others(492): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0075 | 1 | 256 | 0.0039 | 499 | c.*22 others(510): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1886 | chr12 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(492): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 1 | 268 | 0.0037 | 499 | c.*75 others(510): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48736325 | T | TAGAGTCC others(492): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02922.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028a0001c0001t0033 | a0001c0001t0001g0012 a0001c0001t0028g0018 a0001c0001t0033g0034 |
3 | 258 | 0.0116 | 499 | c.391 others(518): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377340 | C | CTCTGTGC others(492): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0127 | 1 | 370 | 0.0027 | 499 | c.-13 others(510): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1315 | chr19 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161833 | G | GACCCCTG others(492): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 388 | 0.0026 | 499 | c.*23 others(510): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2095 | chr11 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(492): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 114 | 0.0088 | 499 | c.-25 others(518): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(492): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0073 | a0001c0002t0073g0039 | 1 | 174 | 0.0058 | 499 | c.41- others(516): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(492): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0095 | 1 | 174 | 0.0058 | 499 | c.41- others(516): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(492): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0029 | a0029c0015 | a0029c0015t0001 | a0029c0015t0001g0033 | 1 | 334 | 0.0030 | 499 | c.657 others(514): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(492): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0145 | 1 | 334 | 0.0030 | 499 | c.657 others(514): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(492): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01993.hp2 HG02273.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0154 a0001c0002t0002g0153 a0001c0002t0002g0155 others(3): Show |
6 | 334 | 0.0180 | 499 | c.657 others(514): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909157 | G | GTGTATGT others(492): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 338 | 0.0030 | 499 | c.*36 others(514): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909242 | T | TATGTGGT others(492): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 338 | 0.0030 | 499 | c.*36 others(514): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
UVSSA_chr4_1342208_1393049 | 1372708 | A | AGCACTCA others(492): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02155.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 a0001c0004t0001g0239 a0001c0004t0001g0250 |
4 | 400 | 0.0100 | 499 | c.128 others(518): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 619294 | T | TCCGGGTA others(492): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0142 | 1 | 232 | 0.0043 | 499 | c.111 others(518): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(492): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0067 a0001c0001t0007g0101 |
2 | 246 | 0.0081 | 499 | c.53- others(512): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(492): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0009 | a0003c0009t0003 | a0003c0009t0003g0308 | 1 | 326 | 0.0031 | 499 | c.483 others(514): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21448229 | C | CGGGAGGG others(492): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG00741.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0020others(1): Show | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0017 others(11): Show |
14 | 302 | 0.0464 | 499 | c.118 others(518): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21448229 | C | CGGGAGGG others(492): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 302 | 0.0033 | 499 | c.118 others(518): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21448229 | C | CGGGAGGG others(492): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0006 | 1 | 302 | 0.0033 | 499 | c.118 others(518): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370951 | A | ATATGATA others(492): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 350 | 0.0029 | 499 | c.-35 others(510): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3417 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATGTG others(492): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 350 | 0.0029 | 499 | c.-34 others(510): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | |||||||
ZNF674_chrX_46492725_46550421 | 46497278 | G | GCCATTTA others(492): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(42): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0039 a0001c0001t0003g0040 others(41): Show |
45 | 287 | 0.1568 | 499 | c.*25 others(510): Show |
ZNF674 | ENSG00000251192.8 | transcript | ENST00000683375.1 | protein_coding | 446 | chrX | TogoVar |