| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SRRM4_chr12_118976541_119168051 | 119025538 | GGGTTCAA others(1097): Show |
G | intron_variant | MODIFIER | HG02257.hp2 NA19030.hp2 |
a0003a0008 | a0003c0003a0008c0020 | a0003c0003t0114a0008c0020t0062 | a0003c0003t0114g0197a0008c0020t0062g0004 | 2 | 328 | 0.0061 | -1104 | c.131 others(19): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TAF4_chr20_61969798_62070881 | 62057603 | CCAGCAAG others(1097): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02129.hp1 HG02280.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0002t0001a0003c0007t0001 | a0001c0001t0001g0037a0001c0001t0001g0063a0001c0001t0001g0064others(2): Show | 5 | 314 | 0.0159 | -1104 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| TMIGD2_chr19_4287227_4307389 | 4293125 | GGCTGATT others(1097): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0137 | 1 | 436 | 0.0023 | -1104 | c.550 others(15): Show |
TMIGD2 | ENSG00000167664.9 | transcript | ENST00000595645.6 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827221 | TGCTGTGC others(1097): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0033 | 1 | 200 | 0.0050 | -1104 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827312 | GCTACTGC others(1097): Show |
G | intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0001 | a0002c0001t0032 | a0002c0001t0032g0036 | 1 | 200 | 0.0050 | -1104 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| SLC35F3_chr1_233899676_234329511 | 234182898 | CAATCATT others(1096): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00639.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0001g0035a0001c0001t0001g0047a0001c0001t0001g0049others(30): Show | 33 | 158 | 0.2089 | -1103 | c.284 others(19): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TMEM235_chr17_78226631_78245987 | 78244884 | CACTGCAA others(1096): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0031a0001c0001t0002g0006others(9): Show | 21 | 468 | 0.0449 | -1103 | c.*50 others(11): Show |
TMEM235 | ENSG00000204278.14 | transcript | ENST00000421688.7 | protein_coding | 3898 | chr17 | TogoVar | ||||||
| AKR1C4_chr10_5191837_5223949 | 5207929 | CTTGAAAT others(1095): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02280.hp2 others(5): Show |
a0001a0004a0008 | a0001c0001a0004c0006a0008c0009 | a0001c0001t0001a0004c0006t0001a0008c0009t0001 | a0001c0001t0001g0067a0001c0001t0001g0216a0001c0001t0001g0217others(4): Show | 8 | 434 | 0.0184 | -1102 | c.570 others(17): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 5/8 | chr10 | TogoVar | ||||||
| MILR1_chr17_64444115_64473643 | 64463255 | ACCTCAGC others(1095): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 394 | 0.0025 | -1102 | c.764 others(17): Show |
MILR1 | ENSG00000271605.6 | transcript | ENST00000619286.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DAPK2_chr15_63902036_64051485 | 63904240 | AACTCCGC others(1094): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02083.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0123a0001c0001t0001g0130others(1): Show | 4 | 214 | 0.0187 | -1101 | c.*31 others(11): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2795 | chr15 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177876277 | CAGGTAGG others(1094): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01884.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(11): Show | a0001c0001t0005g0060a0001c0001t0005g0062a0001c0001t0010g0059others(12): Show | 15 | 170 | 0.0882 | -1101 | c.130 others(18): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 4/19 | chr2 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765333 | GGAGTAGG others(1093): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0029 | a0001c0029t0002 | a0001c0029t0002g0158 | 1 | 412 | 0.0024 | -1100 | c.130 others(19): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DBNDD1_chr16_89999871_90024456 | 90003326 | TGGGACTT others(1093): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0224 | 1 | 412 | 0.0024 | -1100 | c.*19 others(11): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1544 | chr16 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1016299 | CTGTGTGT others(1093): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0016 | 1 | 40 | 0.0250 | -1100 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RAB11FIP4_chr17_31386675_31543211 | 31503199 | ATTTTTGT others(1093): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02055.hp2 others(19): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(7): Show | a0001c0001t0003g0300a0001c0001t0007g0028a0001c0001t0007g0035others(19): Show | 22 | 310 | 0.0710 | -1100 | c.337 others(19): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174233464 | GTCCATGT others(1093): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01081.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0002g0137a0001c0001t0002g0145a0001c0001t0005g0001others(17): Show | 20 | 272 | 0.0735 | -1100 | c.542 others(17): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ABLIM2_chr4_7960327_8163813 | 7994067 | CCAGGGAA others(1092): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(109): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0041a0001c0001t0001g0056a0001c0001t0001g0063others(109): Show | 112 | 322 | 0.3478 | -1099 | c.161 others(19): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 16/20 | chr4 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288799 | GTCCCTGT others(1092): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0158 | 1 | 290 | 0.0035 | -1099 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| VPS13B_chr8_99008274_99882580 | 99014116 | TTTTTTTT others(1092): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0009 | a0001c0002t0001g0047a0001c0002t0002g0046a0001c0002t0009g0045 | 3 | 134 | 0.0224 | -1099 | c.147 others(16): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ACAP3_chr1_1287391_1312930 | 1288228 | TCTGCTCC others(1091): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 295 | 0.0034 | -1098 | c.*42 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4162 | chr1 | TogoVar | ||||||
| CNTNAP2_chr7_146111801_148425998 | 147314405 | TCACTGAA others(1091): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0028 | 1 | 40 | 0.0250 | -1098 | c.149 others(21): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 320371 | TCAGAGAT others(1091): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0107 | a0002c0107t0001 | a0002c0107t0001g0073 | 1 | 256 | 0.0039 | -1098 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149605 | TGCCGCCG others(1091): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 294 | 0.0034 | -1098 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2281208 | AGGACGCC others(1091): Show |
A | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0262 | 1 | 330 | 0.0030 | -1098 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| UNKL_chr16_1358205_1419704 | 1372990 | GGCACACC others(1091): Show |
G | intron_variant | MODIFIER | HG03239.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0295 | 2 | 322 | 0.0062 | -1098 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393135 | GGGGAAGG others(1091): Show |
G | intron_variant | MODIFIER | HG03486.hp1 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0135a0001c0002t0136 | a0001c0002t0135g0073a0001c0002t0136g0103 | 2 | 346 | 0.0058 | -1098 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393190 | GGGTGGTC others(1091): Show |
G | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0243 | 1 | 346 | 0.0029 | -1098 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| PPP3CC_chr8_22436078_22546125 | 22478168 | TTGAGATG others(1090): Show |
T | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 326 | 0.0031 | -1097 | c.372 others(17): Show |
PPP3CC | ENSG00000120910.15 | transcript | ENST00000240139.10 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
| RTN1_chr14_59590983_59875776 | 59874679 | TTATATAT others(1090): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(38): Show |
a0001a0006a0007 | a0001c0001a0006c0008a0007c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(38): Show | 41 | 172 | 0.2384 | -1097 | c.-51 others(11): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 3904 | chr14 | TogoVar | ||||||
| TSPAN4_chr11_837852_872111 | 871014 | GGAGTCTC others(1090): Show |
G | downstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 394 | 0.0025 | -1097 | c.*43 others(11): Show |
TSPAN4 | ENSG00000214063.12 | transcript | ENST00000397397.7 | protein_coding | 3904 | chr11 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291278 | TCCGTGTC others(1090): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0208 | 2 | 284 | 0.0070 | -1097 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| CYP19A1_chr15_51203057_51343596 | 51226657 | ATCATCTA others(1089): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 306 | 0.0033 | -1096 | c.451 others(15): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89360723 | ACCACCAC others(1089): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 230 | 0.0044 | -1096 | c.544 others(18): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| NLRP2_chr19_54961374_55006138 | 54964828 | ATAAAATA others(1089): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(109): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0008others(12): Show | a0001c0001t0002a0001c0001t0013a0001c0004t0002others(15): Show | a0001c0001t0002g0068a0001c0001t0002g0069a0001c0001t0002g0072others(109): Show | 112 | 429 | 0.2611 | -1096 | c.-16 others(10): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 1545 | chr19 | TogoVar | ||||||
| ZNF512B_chr20_63951704_63974930 | 63964828 | CACCACTG others(1089): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(35): Show |
a0001 | a0001c0003a0001c0006a0001c0026others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(8): Show | a0001c0003t0001g0022a0001c0003t0001g0041a0001c0003t0001g0043others(20): Show | 38 | 356 | 0.1067 | -1096 | c.103 others(17): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | ||||||
| JAZF1_chr7_27825577_28185795 | 27989094 | TAGACCAA others(1088): Show |
T | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 206 | 0.0049 | -1095 | c.188 others(17): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| NLRP2_chr19_54961374_55006138 | 54964832 | AATAATAA others(1088): Show |
A | upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0085 | 1 | 429 | 0.0023 | -1095 | c.-16 others(10): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 1541 | chr19 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148920 | CCACACCC others(1088): Show |
C | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 294 | 0.0034 | -1095 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149045 | ACTCACAC others(1088): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 294 | 0.0034 | -1095 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ZNF311_chr6_28989788_29010315 | 28990319 | GCTGGGAT others(1088): Show |
G | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02602.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041a0001c0001t0002g0042a0001c0001t0002g0067 | 3 | 417 | 0.0072 | -1095 | c.*35 others(11): Show |
ZNF311 | ENSG00000197935.7 | transcript | ENST00000377179.4 | protein_coding | 4468 | chr6 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211286 | ACTATGTG others(1087): Show |
A | intron_variant | MODIFIER | HG01952.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0129a0001c0001t0002g0106 | 2 | 148 | 0.0135 | -1094 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| ILKAP_chr2_238165402_238208695 | 238179491 | TCCCTGAT others(1087): Show |
T | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 420 | 0.0024 | -1094 | c.836 others(17): Show |
ILKAP | ENSG00000132323.9 | transcript | ENST00000254654.8 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
| PDE4B_chr1_65787895_66379574 | 66009671 | AAACTTTC others(1087): Show |
A | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 118 | 0.0085 | -1094 | c.281 others(19): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393306 | AGGCAGGT others(1086): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG03654.hp2 NA19054.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0036a0001c0001t0166others(1): Show | a0001c0001t0006g0248a0001c0001t0036g0287a0001c0001t0166g0251others(1): Show | 4 | 346 | 0.0116 | -1093 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| AFDN_chr6_167821911_167977023 | 167940477 | ATGTGTGG others(1085): Show |
A | intron_variant | MODIFIER | HG01975.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0167 | 1 | 326 | 0.0031 | -1092 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560494 | GCCCTGAG others(1085): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 180 | 0.0056 | -1092 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560571 | CATTCTTG others(1085): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0180 | 1 | 180 | 0.0056 | -1092 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1106698 | GCGTGCTG others(1085): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 190 | 0.0053 | -1092 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| C8orf34_chr8_68325955_68824023 | 68714361 | TGTATACC others(1084): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0045 | 1 | 128 | 0.0078 | -1091 | c.132 others(19): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NECAB3_chr20_33652087_33679428 | 33653671 | TTTGCAGG others(1084): Show |
T | downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 368 | 0.0027 | -1091 | c.*30 others(11): Show |
NECAB3 | ENSG00000125967.17 | transcript | ENST00000246190.11 | protein_coding | 3415 | chr20 | TogoVar |