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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LAPTM4B_chr8_97770788_97858013 | 97841692 | GTGAGTTA others(667): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0302 | 1 | 378 | 0.0026 | -674 | c.604 others(17): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857806 | TCTCGGGA others(667): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02486.hp1 others(2): Show |
a0001a0024 | a0001c0006a0024c0058 | a0001c0006t0001a0024c0058t0001 | a0001c0006t0001g0081 a0001c0006t0001g0286 a0001c0006t0001g0289 others(2): Show |
5 | 292 | 0.0171 | -674 | c.153 others(19): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188784394 | CATATATA others(667): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0072 | 1 | 73 | 0.0137 | -674 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288663 | TCCCGTGT others(667): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02074.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 a0002c0002t0001g0063 |
2 | 250 | 0.0080 | -674 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393416 | GGGGAAGG others(667): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0009 | a0002c0009t0023 | a0002c0009t0023g0016 | 1 | 334 | 0.0030 | -674 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76393633 | AGGCAGGT others(667): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 317 | 0.0032 | -674 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
CDKAL1_chr6_20529457_21237404 | 21163885 | AGGCTGCA others(666): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0071 a0001c0004t0001g0099 |
2 | 194 | 0.0103 | -673 | c.130 others(21): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132134758 | CCGAGTGT others(666): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 1 | 326 | 0.0031 | -673 | c.*38 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1835 | chr12 | TogoVar | |||||||
OR6N1_chr1_158759236_158777195 | 158761544 | CCTAGATC others(666): Show |
C | downstream_gene_variant | MODIFIER | NA18961.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0001 | 1 | 470 | 0.0021 | -673 | c.*35 others(11): Show |
OR6N1 | ENSG00000197403.5 | transcript | ENST00000641846.1 | protein_coding | 2691 | chr1 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686340 | GGGGCCCC others(666): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03516.hp1 NA18522.hp1 |
a0002a0005 | a0002c0002a0005c0009 | a0002c0002t0001a0005c0009t0001 | a0002c0002t0001g0031 a0002c0002t0001g0189 a0005c0009t0001g0319 |
3 | 303 | 0.0099 | -673 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739360 | AGCCTGAT others(666): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp2 others(19): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0003t0004a0003c0003t0019others(1): Show | a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0022 others(10): Show |
22 | 415 | 0.0530 | -673 | c.-35 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3510 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739449 | TGGCCTGA others(666): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp2 HG03209.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0042 a0003c0003t0004g0042 |
2 | 237 | 0.0084 | -673 | c.-34 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3421 | chr17 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072408 | GCCCCCAG others(666): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 105 | 0.0095 | -673 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
TBX19_chr1_168275877_168319426 | 168318753 | AAGTTCTT others(666): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0353 |
3 | 380 | 0.0079 | -673 | c.*57 others(11): Show |
TBX19 | ENSG00000143178.13 | transcript | ENST00000367821.8 | protein_coding | 4328 | chr1 | TogoVar | |||||||
TIA1_chr2_70204444_70253628 | 70205431 | CGCCTGTA others(666): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0107 a0001c0001t0001g0108 others(5): Show |
8 | 392 | 0.0204 | -673 | c.*66 others(11): Show |
TIA1 | ENSG00000116001.17 | transcript | ENST00000433529.7 | protein_coding | 4012 | chr2 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44468296 | GTACACTA others(666): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01928.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0014a0003c0004a0004c0003others(1): Show | a0001c0014t0003a0003c0004t0003a0003c0004t0007others(2): Show | a0001c0014t0003g0229 a0003c0004t0003g0223 a0003c0004t0003g0224 others(10): Show |
13 | 238 | 0.0546 | -673 | c.291 others(21): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1739360 | AGCCTGAT others(666): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01074.hp2 others(11): Show |
a0001a0006 | a0001c0003a0001c0017a0001c0038others(1): Show | a0001c0003t0001a0001c0003t0006a0001c0017t0001others(2): Show | a0001c0003t0001g0003 a0001c0003t0001g0030 a0001c0003t0001g0070 others(4): Show |
14 | 396 | 0.0354 | -673 | c.*16 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 776 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1739449 | TGGCCTGA others(666): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp1 HG03209.hp1 |
a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0033 | 2 | 222 | 0.0090 | -673 | c.*17 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 865 | chr17 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179313246 | AGAGCAGG others(665): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02155.hp1 NA18945.hp2 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0050a0002c0016others(8): Show | a0001c0001t0002a0001c0050t0001a0002c0016t0002others(8): Show | a0001c0001t0002g0102 a0001c0050t0001g0175 a0002c0016t0002g0263 others(9): Show |
12 | 274 | 0.0438 | -672 | c.534 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111282 | ACCAGACA others(665): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 a0001c0001t0002g0069 |
2 | 317 | 0.0063 | -672 | c.401 others(17): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89429130 | GACTCTCA others(665): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02486.hp2 NA18945.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0009a0004c0004 | a0001c0001t0001a0002c0009t0001a0004c0004t0001 | a0001c0001t0001g0222 a0002c0009t0001g0294 a0002c0009t0001g0301 others(1): Show |
4 | 300 | 0.0133 | -672 | c.-14 others(21): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757844 | CCACCTGC others(665): Show |
C | intron_variant | MODIFIER | HG01258.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0095 | 1 | 290 | 0.0034 | -672 | c.655 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647539 | AGTGGAGA others(665): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 a0001c0001t0004g0056 |
2 | 356 | 0.0056 | -672 | c.253 others(15): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32739555 | GAATGGCG others(665): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(107): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(100): Show |
110 | 398 | 0.2764 | -672 | c.84+ others(15): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1319065 | CATGGTGG others(665): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02559.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 5 | 366 | 0.0137 | -672 | c.*51 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4308 | chr6 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132233386 | CAGAGGAG others(665): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0040 | a0001c0040t0007 | a0001c0040t0007g0002 | 1 | 179 | 0.0056 | -672 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132234215 | GTGGAGTC others(665): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0117 a0001c0001t0001g0122 others(1): Show |
4 | 182 | 0.0220 | -672 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132303587 | GCCCGGGC others(665): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp1 HG01167.hp2 others(29): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(9): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 others(29): Show |
32 | 163 | 0.1963 | -672 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132304793 | ACACACCC others(665): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01943.hp1 |
a0001a0002 | a0001c0031a0002c0032 | a0001c0031t0001a0002c0032t0002 | a0001c0031t0001g0038 a0002c0032t0002g0167 |
2 | 182 | 0.0110 | -672 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 960610 | ACACGGGA others(665): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0074 | 1 | 233 | 0.0043 | -672 | c.194 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMLN_chr3_197955217_198048720 | 198004457 | CCATCTAT others(665): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02027.hp2 HG03017.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0117 others(5): Show |
8 | 230 | 0.0348 | -672 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198004509 | CCATCTAT others(665): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0174 | 1 | 211 | 0.0047 | -672 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1991285 | ACCGCTGG others(665): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01255.hp2 others(12): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 others(12): Show |
15 | 138 | 0.1087 | -672 | c.141 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195779006 | GGGTGGTG others(665): Show |
G | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 247 | 0.0081 | -672 | c.119 others(11): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12685/16756 | 11902/16239 | 3968/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785088 | GGTGACAG others(665): Show |
G | disruptive_inframe_deletion | MODERATE | HG01891.hp2 | a0049 | a0049c0159 | a0049c0159t0008 | a0049c0159t0008g0220 | 1 | 239 | 0.0042 | -672 | c.582 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6603/16756 | 5820/16239 | 1940/5412 | chr3 | TogoVar | |||
PRKCA_chr17_66297613_66815743 | 66798873 | TGGTGATG others(665): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0175 | 1 | 175 | 0.0057 | -672 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934161 | GCGTTACA others(665): Show |
G | intron_variant | MODIFIER | HG02735.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0094 |
2 | 405 | 0.0049 | -672 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEMA4D_chr9_89372235_89503113 | 89404591 | ATCCCGTC others(665): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02165.hp2 NA18956.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0158 a0001c0001t0001g0245 a0001c0001t0001g0250 others(3): Show |
6 | 368 | 0.0163 | -672 | c.106 others(14): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245975757 | CAGGGAAA others(665): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0099 | 1 | 139 | 0.0072 | -672 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245975781 | TAGGGAAA others(665): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0118 | 1 | 107 | 0.0093 | -672 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245975849 | GGCCCAGG others(665): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0109 | 1 | 139 | 0.0072 | -672 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245975877 | CAGGGAAA others(665): Show |
C | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 133 | 0.0075 | -672 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245976093 | CAGGGAAA others(665): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 134 | 0.0075 | -672 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245976165 | CAGGGAAA others(665): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0060 | 1 | 133 | 0.0075 | -672 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245976305 | AGCCCAGG others(665): Show |
A | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 114 | 0.0088 | -672 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138673912 | AGGTGGCT others(665): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02698.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0271 a0001c0005t0001g0048 |
2 | 358 | 0.0056 | -672 | c.175 others(17): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827300 | GGGGCATC others(665): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0095 | 1 | 123 | 0.0081 | -672 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827442 | TGGGGGCA others(665): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0012 | 1 | 166 | 0.0060 | -672 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827792 | CCTACCGC others(665): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02647.hp2 NA18906.hp1 |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0004t0002a0001c0007t0003 | a0001c0002t0001g0046 a0001c0004t0002g0183 a0001c0007t0003g0004 |
3 | 161 | 0.0186 | -672 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75968722 | AGACCAGC others(664): Show |
A | intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0324 | 1 | 342 | 0.0029 | -671 | c.270 others(17): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar |