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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USP46_chr4_52585960_52664301 | 52632973 | AAAGAAAG others(14): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 192 | 0.0052 | -21 | c.37- others(36): Show |
USP46 | ENSG00000109189.13 | transcript | ENST00000441222.8 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
USP46_chr4_52585960_52664301 | 52632985 | AAAAGAAA others(14): Show |
A | intron_variant | MODIFIER | NA19058.hp1 NA19090.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0008a0001c0003t0005g0010 | 2 | 192 | 0.0104 | -21 | c.37- others(36): Show |
USP46 | ENSG00000109189.13 | transcript | ENST00000441222.8 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
USP47_chr11_11836972_11966887 | 11871501 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02970.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0029a0001c0001t0015g0030a0001c0001t0015g0031others(1): Show | 4 | 386 | 0.0104 | -21 | c.40- others(36): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
USP48_chr1_21673298_21788149 | 21765901 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02080.hp2 HG02155.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0134a0001c0001t0001g0135others(17): Show | 20 | 364 | 0.0550 | -21 | c.135 others(38): Show |
USP48 | ENSG00000090686.16 | transcript | ENST00000308271.14 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
USP6_chr17_5111032_5179991 | 5135130 | TGAATCAT others(14): Show |
T | intron_variant | MODIFIER | NA18987.hp1 | a0014 | a0014c0022 | a0014c0022t0004 | a0014c0022t0004g0309 | 1 | 362 | 0.0028 | -21 | c.495 others(35): Show |
USP6 | ENSG00000129204.17 | transcript | ENST00000574788.6 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
UST_chr6_148742030_149081990 | 148863736 | AGCTGCAG others(14): Show |
A | intron_variant | MODIFIER | HG01255.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159a0001c0001t0003g0180 | 2 | 210 | 0.0095 | -21 | c.248 others(40): Show |
UST | ENSG00000111962.8 | transcript | ENST00000367463.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UST_chr6_148742030_149081990 | 149048137 | TAATGAAA others(14): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG01346.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0068a0001c0001t0006g0124a0001c0001t0006g0130others(1): Show | 4 | 210 | 0.0191 | -21 | c.938 others(40): Show |
UST | ENSG00000111962.8 | transcript | ENST00000367463.5 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
UTP20_chr12_101275105_101391618 | 101340937 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG03669.hp1 |
a0001a0009 | a0001c0003a0009c0022 | a0001c0003t0008a0009c0022t0004 | a0001c0003t0008g0075a0009c0022t0004g0053 | 2 | 356 | 0.0056 | -21 | c.410 others(38): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UTRN_chr6_144280335_144858034 | 144635509 | TTTTTCTT others(14): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02809.hp1 HG03098.hp1 others(7): Show |
a0001a0003a0016 | a0001c0002a0001c0006a0001c0011others(5): Show | a0001c0002t0005a0001c0006t0003a0001c0006t0005others(6): Show | a0001c0002t0005g0112a0001c0006t0003g0124a0001c0006t0005g0123others(7): Show | 10 | 128 | 0.0781 | -21 | c.748 others(42): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 51/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UTRN_chr6_144280335_144858034 | 144693810 | TCTGGATA others(14): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0018 | 1 | 128 | 0.0078 | -21 | c.765 others(40): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UTS2R_chr17_82366765_82382458 | 82379431 | CAAAAAAA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0024 | 1 | 384 | 0.0026 | -21 | c.*39 others(32): Show |
UTS2R | ENSG00000181408.5 | transcript | ENST00000313135.5 | protein_coding | 1974 | chr17 | TogoVar | ||||||
UVSSA_chr4_1342208_1393049 | 1372773 | GGCACTCA others(14): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0338 | 1 | 400 | 0.0025 | -21 | c.128 others(40): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
UXS1_chr2_106088311_106199301 | 106094212 | CGCAGGAA others(14): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 304 | 0.0033 | -21 | c.114 others(36): Show |
UXS1 | ENSG00000115652.15 | transcript | ENST00000283148.12 | protein_coding | 14/14 | chr2 | TogoVar | ||||||
UXS1_chr2_106088311_106199301 | 106143408 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 304 | 0.0033 | -21 | c.472 others(38): Show |
UXS1 | ENSG00000115652.15 | transcript | ENST00000283148.12 | protein_coding | 6/14 | chr2 | TogoVar | ||||||
VAC14_chr16_70682439_70806158 | 70803721 | CAGGGTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 322 | 0.0031 | -21 | c.-28 others(32): Show |
VAC14 | ENSG00000103043.15 | transcript | ENST00000261776.10 | protein_coding | 2564 | chr16 | TogoVar | ||||||
VAMP3_chr1_7766296_7786432 | 7784381 | GTGCGCGG others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 446 | 0.0045 | -21 | c.*47 others(32): Show |
VAMP3 | ENSG00000049245.13 | transcript | ENST00000054666.11 | protein_coding | 2950 | chr1 | TogoVar | ||||||
VAMP3_chr1_7766296_7786432 | 7784384 | CGCGGCCG others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 NA18989.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 3 | 446 | 0.0067 | -21 | c.*47 others(32): Show |
VAMP3 | ENSG00000049245.13 | transcript | ENST00000054666.11 | protein_coding | 2953 | chr1 | TogoVar | ||||||
VAV1_chr19_6767708_6862361 | 6844063 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01071.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0232a0001c0001t0001g0272 | 3 | 306 | 0.0098 | -21 | c.201 others(38): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6846802 | GTTATATA others(14): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 306 | 0.0033 | -21 | c.201 others(40): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV2_chr9_133756894_133997324 | 133891372 | GGATGGAG others(14): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(121): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(19): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(44): Show | a0001c0002t0001g0038a0001c0002t0001g0042a0001c0002t0001g0046others(121): Show | 124 | 200 | 0.6200 | -21 | c.322 others(40): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 2/29 | chr9 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107884405 | TTTATTAT others(14): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG06807.hp2 |
a0002a0012 | a0002c0010a0012c0011 | a0002c0010t0005a0012c0011t0005 | a0002c0010t0005g0114a0012c0011t0005g0115 | 2 | 210 | 0.0095 | -21 | c.205 others(38): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466734 | AGGGAGGA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00639.hp2 others(8): Show |
a0001a0011a0052others(1): Show | a0001c0001a0001c0060a0011c0019others(2): Show | a0001c0001t0001a0001c0060t0010a0011c0019t0008others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0060t0010g0012others(3): Show | 11 | 271 | 0.0406 | -21 | c.*35 others(30): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 225 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466763 | AGGGAGGA others(14): Show |
A | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0013 | a0013c0013 | a0013c0013t0003 | a0013c0013t0003g0004 | 1 | 271 | 0.0037 | -21 | c.*38 others(30): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 254 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466792 | AGGGAGGA others(14): Show |
A | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0014 | a0014c0081 | a0014c0081t0001 | a0014c0081t0001g0001 | 1 | 271 | 0.0037 | -21 | c.*41 others(30): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 283 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467221 | AGGGAGGA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG02132.hp1 HG02148.hp2 HG02723.hp2 others(1): Show |
a0004a0011a0039others(1): Show | a0004c0004a0011c0028a0039c0054others(1): Show | a0004c0004t0004a0011c0028t0021a0039c0054t0005others(1): Show | a0004c0004t0004g0002a0011c0028t0021g0002a0039c0054t0005g0005others(1): Show | 4 | 271 | 0.0148 | -21 | c.*83 others(30): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 712 | chrX | TogoVar | ||||||
VDR_chr12_47836537_47909994 | 47859892 | TCCTTCCT others(14): Show |
T | intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0163 | 1 | 358 | 0.0028 | -21 | c.278 others(38): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
VEGFC_chr4_176678538_176797922 | 176740347 | TTATATAT others(14): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 224 | 0.0045 | -21 | c.148 others(40): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
VGLL1_chrX_136527215_136561799 | 136532641 | CTTTCTTT others(14): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 259 | 0.0039 | -21 | c.-26 others(36): Show |
VGLL1 | ENSG00000102243.13 | transcript | ENST00000370634.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
VGLL3_chr3_86932973_86996149 | 86988640 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01243.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0182a0001c0001t0008g0191 | 2 | 370 | 0.0054 | -21 | c.126 others(38): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
VIL1_chr2_218414123_218458295 | 218415954 | TCTCTCTC others(14): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0098 | 1 | 336 | 0.0030 | -21 | c.-32 others(32): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3168 | chr2 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159106535 | AGGAGGGG others(14): Show |
A | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0253 | 1 | 336 | 0.0030 | -21 | c.260 others(38): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
VIRMA_chr8_94482689_94558469 | 94483263 | TTGAAAAG others(14): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02886.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038a0001c0003t0001g0039 | 2 | 346 | 0.0058 | -21 | c.*54 others(32): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 4425 | chr8 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65872985 | GCCCATCC others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00741.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034 | a0001c0001t0002g0084a0001c0001t0002g0085a0001c0001t0002g0089others(13): Show | 16 | 350 | 0.0457 | -21 | c.-38 others(30): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 88 | chr7 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65895471 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0326 | 1 | 350 | 0.0029 | -21 | c.194 others(40): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VKORC1L1_chr7_65868074_65964558 | 65895475 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0341 | 1 | 350 | 0.0029 | -21 | c.194 others(40): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VKORC1L1_chr7_65868074_65964558 | 65895477 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 350 | 0.0029 | -21 | c.194 others(40): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VKORC1L1_chr7_65868074_65964558 | 65963570 | AAGTCTCA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(112): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0077others(112): Show | 115 | 350 | 0.3286 | -21 | c.*92 others(32): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 4013 | chr7 | TogoVar | ||||||
VN1R2_chr19_53253292_53264602 | 53254971 | GGGGATGG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02055.hp1 others(17): Show |
a0001a0002 | a0001c0005a0002c0002a0002c0006 | a0001c0005t0004a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0005t0004g0000a0002c0002t0001g0000a0002c0002t0002g0000others(1): Show | 20 | 458 | 0.0437 | -21 | c.-34 others(32): Show |
VN1R2 | ENSG00000196131.6 | transcript | ENST00000341702.3 | protein_coding | 3320 | chr19 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540045 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02273.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0115a0001c0001t0004g0101 | 2 | 134 | 0.0149 | -21 | c.474 others(42): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99540047 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 134 | 0.0075 | -21 | c.474 others(42): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99639985 | GTAATAAT others(14): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00738.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0002g0011a0001c0001t0002g0026a0001c0001t0002g0032others(20): Show | 23 | 134 | 0.1716 | -21 | c.522 others(40): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99640007 | TAATAATA others(14): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp1 others(12): Show |
a0001a0006a0016 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0011t0002others(2): Show | a0001c0001t0002g0027a0001c0001t0002g0038a0001c0001t0002g0039others(12): Show | 15 | 134 | 0.1119 | -21 | c.522 others(40): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13D_chr1_12225030_12517047 | 12482739 | CTAGTATA others(14): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA18943.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0037a0002c0004t0001g0081 | 2 | 154 | 0.0130 | -21 | c.126 others(44): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
VPS35L_chr16_19550703_19706163 | 19623796 | ATTATTAT others(14): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0003a0001c0002t0001g0009a0001c0002t0001g0046others(1): Show | 4 | 284 | 0.0141 | -21 | c.122 others(40): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
VPS41_chr7_38717974_38914191 | 38720487 | TATATATA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG01978.hp2 HG02109.hp1 HG02148.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0019a0001c0002t0037a0001c0003t0021others(1): Show | a0001c0001t0019g0010a0001c0001t0019g0023a0001c0002t0037g0178others(4): Show | 7 | 278 | 0.0252 | -21 | c.*57 others(32): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2486 | chr7 | TogoVar | ||||||
VPS4A_chr16_69306350_69331939 | 69310070 | GTTTTTTT others(14): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01975.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0156others(1): Show | 4 | 366 | 0.0109 | -21 | c.-14 others(32): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1279 | chr16 | TogoVar | ||||||
VPS50_chr7_93227366_93366123 | 93250242 | TTTTTTGG others(14): Show |
T | intron_variant | MODIFIER | NA18969.hp1 NA18983.hp2 NA18987.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(1): Show | a0001c0002t0001g0078a0001c0002t0002g0077a0001c0002t0007g0097others(1): Show | 4 | 316 | 0.0127 | -21 | c.103 others(38): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VPS50_chr7_93227366_93366123 | 93302157 | CTTAGGAT others(14): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 316 | 0.0032 | -21 | c.136 others(40): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 16/27 | chr7 | TogoVar | ||||||
VPS52_chr6_33245278_33276876 | 33256463 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02129.hp1 HG02132.hp2 others(3): Show |
a0001 | a0001c0003a0001c0005a0001c0006 | a0001c0003t0003a0001c0005t0007a0001c0006t0003 | a0001c0003t0003g0230a0001c0005t0007g0037a0001c0005t0007g0229others(2): Show | 6 | 325 | 0.0185 | -21 | c.179 others(40): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58136763 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0309a0001c0001t0002g0002 | 3 | 340 | 0.0088 | -21 | c.856 others(38): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |