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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASA3_chr13_113972783_114137623 | 114083770 | ACGGGGAA others(533): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02300.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0028 others(4): Show |
7 | 52 | 0.1346 | -540 | c.56- others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114086399 | GTCCTCGC others(533): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0029 | 1 | 44 | 0.0227 | -540 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114086416 | CCGGGGAA others(533): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 53 | 0.0189 | -540 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 220565 | CACTGAGA others(533): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 132 | 0.0076 | -540 | c.614 others(16): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739787 | AGGACAGT others(533): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02280.hp1 others(10): Show |
a0003a0012 | a0003c0003a0012c0014 | a0003c0003t0001a0003c0003t0004a0012c0014t0004 | a0003c0003t0001g0012 a0003c0003t0001g0019 a0003c0003t0001g0035 others(5): Show |
13 | 443 | 0.0293 | -540 | c.-31 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3083 | chr17 | TogoVar | |||||||
STAT3_chr17_42308324_42393442 | 42337881 | TGACCTGA others(533): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0027 a0001c0001t0020g0021 |
2 | 286 | 0.0070 | -540 | c.550 others(14): Show |
STAT3 | ENSG00000168610.17 | transcript | ENST00000264657.10 | protein_coding | 6/23 | chr17 | TogoVar | |||||||
STAT3_chr17_42308324_42393442 | 42337981 | GGACCTGA others(533): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 others(5): Show |
8 | 258 | 0.0310 | -540 | c.550 others(15): Show |
STAT3 | ENSG00000168610.17 | transcript | ENST00000264657.10 | protein_coding | 6/23 | chr17 | TogoVar | |||||||
TTC6_chr14_37590629_37847717 | 37690292 | GAAGACAG others(533): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0011 | a0011c0013 | a0011c0013t0006 | a0011c0013t0006g0090 | 1 | 218 | 0.0046 | -540 | c.125 others(19): Show |
TTC6 | ENSG00000139865.17 | transcript | ENST00000553443.6 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133291919 | TCCGTGTC others(533): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0206 |
3 | 265 | 0.0113 | -540 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1739787 | AGGACAGT others(533): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0007a0001c0042 | a0001c0007t0001a0001c0042t0001 | a0001c0007t0001g0005 a0001c0042t0001g0053 |
9 | 430 | 0.0209 | -540 | c.*21 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1203 | chr17 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16033720 | TTCAAGCG others(532): Show |
T | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0065 | 1 | 248 | 0.0040 | -539 | c.677 others(16): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756359 | TATAGAGT others(532): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01433.hp1 others(4): Show |
a0001 | a0001c0003a0001c0018 | a0001c0003t0006a0001c0018t0006 | a0001c0003t0006g0125 a0001c0003t0006g0127 a0001c0003t0006g0130 others(4): Show |
7 | 267 | 0.0262 | -539 | c.215 others(18): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33626348 | GTGGTGAT others(532): Show |
G | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 222 | 0.0045 | -539 | c.202 others(19): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 13/23 | chr5 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235697 | CCGGTGTT others(532): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01884.hp2 NA19011.hp1 |
a0001a0002a0009 | a0001c0001a0002c0016a0009c0015 | a0001c0001t0001a0002c0016t0006a0009c0015t0014 | a0001c0001t0001g0078 a0002c0016t0006g0010 a0009c0015t0014g0008 |
3 | 106 | 0.0283 | -539 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 321996 | CTGTTAGA others(532): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011 | 1 | 66 | 0.0152 | -539 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55155307 | AGGAGGAG others(532): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01192.hp1 others(12): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0001a0002c0003t0004 | a0001c0004t0001g0042 a0001c0004t0001g0090 a0001c0004t0001g0091 others(9): Show |
15 | 396 | 0.0379 | -539 | c.*32 others(11): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3357 | chr19 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162260958 | CCTCAAAG others(532): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0024 | a0001c0003t0003g0168 a0001c0003t0024g0065 |
2 | 134 | 0.0149 | -539 | c.178 others(19): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 297212 | ATTATTCT others(532): Show |
A | intron_variant | MODIFIER | HG00558.hp2 NA18993.hp1 NA19055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0001t0076others(1): Show | a0001c0001t0001g0004 a0001c0001t0018g0102 a0001c0001t0076g0092 others(1): Show |
5 | 174 | 0.0287 | -539 | c.734 others(17): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TNNI3_chr19_55146767_55162732 | 55155307 | AGGAGGAG others(532): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01192.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0052 others(2): Show |
14 | 386 | 0.0363 | -539 | c.282 others(15): Show |
TNNI3 | ENSG00000129991.13 | transcript | ENST00000344887.10 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291462 | TCCCTCCG others(532): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 282 | 0.0071 | -539 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76394141 | GGGCAGGT others(532): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0021 | 1 | 317 | 0.0032 | -539 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531235 | AAGGGCAC others(531): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0019 | 1 | 156 | 0.0064 | -538 | c.298 others(17): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003345 | CTCCGCGT others(531): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0019 | 1 | 262 | 0.0038 | -538 | c.459 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924290 | TCCCCACA others(531): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0107 | 1 | 151 | 0.0066 | -538 | c.489 others(16): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137566482 | ACTCTGTC others(531): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 291 | 0.0034 | -538 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
FBXL2_chr3_33272442_33393092 | 33380595 | ATCCCCAG others(531): Show |
A | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 338 | 0.0030 | -538 | c.951 others(17): Show |
FBXL2 | ENSG00000153558.17 | transcript | ENST00000484457.6 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1319199 | CATGGTGG others(531): Show |
C | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0000 | 1 | 400 | 0.0025 | -538 | c.*52 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4442 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1319201 | TGGTGGCG others(531): Show |
T | downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 385 | 0.0026 | -538 | c.*52 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4444 | chr6 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109766182 | ACTCCCCA others(531): Show |
A | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 382 | 0.0026 | -538 | c.401 others(20): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124506920 | GTAGACAG others(531): Show |
G | intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 256 | 0.0039 | -538 | c.624 others(17): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531235 | AAGGGCAC others(531): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0007 | 1 | 257 | 0.0039 | -538 | c.-48 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4203 | chr8 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1076227 | TGGCTGAG others(531): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02976.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0006a0004c0007t0011 | a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0006g0040 others(1): Show |
5 | 294 | 0.0170 | -538 | c.-27 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 1922 | chr1 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739180 | AGCCTGAT others(531): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03139.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 a0003c0003t0001g0019 |
2 | 404 | 0.0050 | -538 | c.-37 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3690 | chr17 | TogoVar | |||||||
SOCS5_chr2_46694295_46768129 | 46744242 | GGCCTCCC others(531): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0083 | 1 | 378 | 0.0026 | -538 | c.-12 others(19): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82784996 | GGTCCATG others(531): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0009 | a0001c0009t0014 | a0001c0009t0014g0129 | 1 | 316 | 0.0032 | -538 | c.771 others(17): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1739180 | AGCCTGAT others(531): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02615.hp1 |
a0001 | a0001c0007a0001c0026a0001c0036 | a0001c0007t0001a0001c0026t0001a0001c0036t0001 | a0001c0007t0001g0005 a0001c0026t0001g0029 a0001c0036t0001g0039 |
3 | 387 | 0.0078 | -538 | c.*14 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 596 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83002888 | CCGCGTGT others(530): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0251 | 1 | 266 | 0.0038 | -537 | c.459 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53923113 | GAGTTGCC others(530): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 362 | 0.0028 | -537 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1318931 | CGCGGTGG others(530): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG02300.hp2 HG02523.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0005 | a0001c0001t0002a0002c0004t0001a0002c0005t0001others(1): Show | a0001c0001t0002g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(1): Show |
5 | 404 | 0.0124 | -537 | c.*50 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4174 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1319067 | TGGTGGCG others(530): Show |
T | downstream_gene_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0000 | 1 | 349 | 0.0029 | -537 | c.*51 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4310 | chr6 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806967 | GCCCAGGG others(530): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0021 | 2 | 264 | 0.0076 | -537 | c.*28 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2681 | chr2 | TogoVar | |||||||
MUC22_chr6_31005474_31040402 | 31026777 | TCTCTACT others(530): Show |
T | disruptive_inframe_deletion | MODERATE | HG04115.hp1 | a0002 | a0002c0097 | a0002c0097t0001 | a0002c0097t0001g0205 | 1 | 460 | 0.0022 | -537 | c.135 others(9): Show |
p.Ala others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1588/6019 | 1355/5322 | 452/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
NEU4_chr2_241804193_241822413 | 241806967 | GCCCAGGG others(530): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 272 | 0.0037 | -537 | c.-23 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2225 | chr2 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162260958 | CCTCAAAG others(530): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG06807.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0016a0001c0003t0003a0001c0007t0008 | a0001c0001t0016g0096 a0001c0003t0003g0084 a0001c0007t0008g0075 |
3 | 135 | 0.0222 | -537 | c.178 others(19): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1137538 | TTCGGGCT others(530): Show |
T | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0191 | 1 | 183 | 0.0055 | -537 | c.279 others(17): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
TAFA2_chr12_61703273_62197773 | 62000178 | TATTAGTT others(530): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0063 a0001c0001t0001g0067 others(39): Show |
42 | 220 | 0.1909 | -537 | c.-1- others(19): Show |
TAFA2 | ENSG00000198673.11 | transcript | ENST00000416284.8 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ABCE1_chr4_145093311_145134524 | 145132055 | CGATTTTG others(529): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp1 HG06807.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0130 a0001c0004t0004g0131 |
2 | 258 | 0.0078 | -536 | c.*44 others(11): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 2532 | chr4 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 647748 | GTCCACAT others(529): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -536 | c.85+ others(17): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
EIF3K_chr19_38614188_38641954 | 38638776 | TGCCTGTA others(529): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 398 | 0.0025 | -536 | c.*18 others(11): Show |
EIF3K | ENSG00000178982.10 | transcript | ENST00000248342.9 | protein_coding | 1823 | chr19 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347142 | CAGAGAGC others(529): Show |
C | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 265 | 0.0038 | -536 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar |