| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(667): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 286 | 0.0035 | 674 | c.*52 others(685): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(667): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 262 | 0.0038 | 674 | c.212 others(693): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(667): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02976.hp2 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0132a0001c0001t0001g0133a0002c0002t0003g0098 | 3 | 262 | 0.0115 | 674 | c.212 others(693): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LHFPL3_chr7_104323603_104913561 | 104824299 | T | TATAATAT others(667): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 86 | 0.0116 | 674 | c.683 others(693): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(667): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 294 | 0.0034 | 674 | c.153 others(693): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(667): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18947.hp1 NA18982.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0008 | a0001c0003t0001a0001c0004t0001a0001c0008t0001 | a0001c0003t0001g0133a0001c0004t0001g0075a0001c0008t0001g0023others(1): Show | 4 | 294 | 0.0136 | 674 | c.153 others(693): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(667): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 294 | 0.0034 | 674 | c.153 others(693): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(667): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 294 | 0.0034 | 674 | c.153 others(693): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(667): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0216 | 1 | 294 | 0.0034 | 674 | c.153 others(693): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 859736 | C | CGGGTGTG others(667): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0025 | a0004c0025t0007 | a0004c0025t0007g0259 | 1 | 294 | 0.0034 | 674 | c.153 others(693): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 859907 | G | GAGTGGTG others(667): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0098 | 1 | 294 | 0.0034 | 674 | c.153 others(693): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(667): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0293 | 1 | 448 | 0.0022 | 674 | c.*56 others(685): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(667): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 1 | 448 | 0.0022 | 674 | c.*56 others(685): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(667): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0220 | 1 | 448 | 0.0022 | 674 | c.*56 others(685): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(667): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG02080.hp2 HG02738.hp1 others(12): Show |
a0002a0004 | a0002c0002a0004c0009 | a0002c0002t0002a0004c0009t0008 | a0002c0002t0002g0005a0002c0002t0002g0095a0002c0002t0002g0129others(12): Show | 15 | 448 | 0.0335 | 674 | c.*56 others(685): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(667): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01070.hp1 others(14): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0002t0008a0002c0003t0002 | a0002c0002t0002g0010a0002c0002t0002g0011a0002c0002t0002g0014others(11): Show | 17 | 448 | 0.0380 | 674 | c.*56 others(685): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(667): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 HG03540.hp2 |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0210a0003c0004t0007g0414 | 2 | 448 | 0.0045 | 674 | c.*56 others(685): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGAGAGGG others(667): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0082 | 1 | 163 | 0.0061 | 674 | c.525 others(691): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MED27_chr9_131855112_132084867 | 131964326 | G | GTGGTGCT others(667): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 274 | 0.0037 | 674 | c.480 others(693): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGAGGG others(667): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0176 | 1 | 272 | 0.0037 | 674 | c.250 others(689): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(667): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 140 | 0.0071 | 674 | c.114 others(693): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(667): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 394 | 0.0025 | 674 | c.-8+ others(687): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(667): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0130 | a0130c0125 | a0130c0125t0001 | a0130c0125t0001g0065 | 1 | 249 | 0.0040 | 674 | c.148 others(693): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
| NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(667): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0278 | 1 | 422 | 0.0024 | 674 | c.195 others(691): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(667): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0286 | 1 | 422 | 0.0024 | 674 | c.195 others(691): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| PCID2_chr13_113172536_113213669 | 113176446 | A | ACCCGACA others(667): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 414 | 0.0024 | 674 | c.*17 others(685): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 1089 | chr13 | TogoVar | ||||||
| PCID2_chr13_113172536_113213669 | 113176446 | A | ACCCGACA others(667): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(87): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0006t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0023others(38): Show | 90 | 414 | 0.2174 | 674 | c.*17 others(685): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 1089 | chr13 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(667): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0174 | 1 | 376 | 0.0027 | 674 | c.*15 others(685): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3181067 | C | CGGTCTTA others(667): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 210 | 0.0048 | 674 | c.38- others(689): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
| PROZ_chr13_113153648_113177386 | 113176446 | A | ACCCGACA others(667): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 378 | 0.0027 | 674 | c.*43 others(685): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4061 | chr13 | TogoVar | ||||||
| PROZ_chr13_113153648_113177386 | 113176446 | A | ACCCGACA others(667): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(82): Show |
a0001a0002a0004 | a0001c0001a0001c0011a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0032a0001c0001t0001g0097a0001c0001t0001g0105others(60): Show | 85 | 378 | 0.2249 | 674 | c.*43 others(685): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4061 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(667): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 67 | 0.0149 | 674 | c.159 others(691): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(667): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 67 | 0.0149 | 674 | c.159 others(691): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
| RND2_chr17_43020231_43037041 | 43024257 | A | AATCTCGG others(667): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02965.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0006g0003 | 3 | 322 | 0.0093 | 674 | c.-10 others(685): Show |
RND2 | ENSG00000108830.11 | transcript | ENST00000587250.4 | protein_coding | 973 | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80876445 | C | CCCACCGA others(667): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0093 | a0001c0093t0070 | a0001c0093t0070g0155 | 1 | 196 | 0.0051 | 674 | c.151 others(693): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934213 | G | GGCTGCGT others(667): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 434 | 0.0023 | 674 | c.843 others(691): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934713 | A | AGGCGGCT others(667): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165a0001c0001t0003g0166 | 2 | 434 | 0.0046 | 674 | c.843 others(691): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCCTC others(667): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 150 | 0.0067 | 674 | c.77- others(691): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCCTC others(667): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 158 | 0.0063 | 674 | c.22+ others(691): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATAT others(667): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0066 | 1 | 156 | 0.0064 | 674 | c.176 others(691): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(667): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 674 | c.*12 others(685): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(667): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 674 | c.*35 others(685): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642199 | G | GGGGGGGC others(667): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | 674 | c.*65 others(685): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4415 | chr20 | TogoVar | ||||||
| TBXAS1_chr7_139824264_140025293 | 139950811 | T | TTCCATCT others(667): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 270 | 0.0037 | 674 | c.451 others(691): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(667): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0023 | a0005c0023t0003 | a0005c0023t0003g0228 | 1 | 256 | 0.0039 | 674 | c.924 others(691): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
| TMEM120B_chr12_121707752_121787068 | 121747490 | G | GTCTGGGG others(667): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0058 | a0002c0002t0058g0183 | 1 | 314 | 0.0032 | 674 | c.189 others(689): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
| TMEM120B_chr12_121707752_121787068 | 121747917 | A | ACTGGGGT others(667): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0130 | 1 | 314 | 0.0032 | 674 | c.189 others(689): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(667): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0192 | 1 | 260 | 0.0039 | 674 | c.*54 others(685): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | ||||||
| TMEM255B_chr13_113754226_113821995 | 113817328 | C | CGGGACAC others(667): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0171 | 1 | 260 | 0.0039 | 674 | c.*54 others(685): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 334 | chr13 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(667): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 NA19063.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026a0001c0002t0002g0044 | 2 | 394 | 0.0051 | 674 | c.-32 others(685): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar |