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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VAT1L_chr16_77783564_77985107 | 77964779 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0311 | 1 | 12 | 0.0833 | 19 | c.107 others(38): Show |
VAT1L | ENSG00000171724.3 | transcript | ENST00000302536.3 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VAV1_chr19_6767708_6862361 | 6789260 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 292 | 0.0034 | 19 | c.204 others(38): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VAV2_chr9_133756894_133997324 | 133930381 | G | GCTGCCTC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0004others(24): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(57): Show | a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0071 others(162): Show |
165 | 198 | 0.8333 | 19 | c.321 others(36): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 2/29 | chr9 | TogoVar | |||||||
VCL_chr10_73993116_74125169 | 74017046 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0182 | 1 | 107 | 0.0093 | 19 | c.168 others(38): Show |
VCL | ENSG00000035403.18 | transcript | ENST00000211998.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169109 | C | CCCTCCCC others(12): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 87 | 0.0115 | 19 | c.*92 others(28): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 834 | chrX | TogoVar | |||||||
VDAC2_chr10_75205796_75236448 | 75232740 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG03139.hp2 NA18939.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0008 |
4 | 78 | 0.0513 | 19 | c.*17 others(30): Show |
VDAC2 | ENSG00000165637.14 | transcript | ENST00000332211.11 | protein_coding | 1293 | chr10 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47904462 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 128 | 0.0078 | 19 | c.-84 others(34): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176740192 | T | TTCTATAT others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01981.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 others(3): Show |
6 | 222 | 0.0270 | 19 | c.148 others(38): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176768513 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18947.hp1 NA18947.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0099 others(2): Show |
5 | 218 | 0.0229 | 19 | c.147 others(38): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176771008 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 221 | 0.0045 | 19 | c.147 others(38): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157256973 | G | GATTTTCT others(12): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(143): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0010others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0281 others(143): Show |
146 | 302 | 0.4834 | 19 | c.*41 others(30): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 2768 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157304019 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02083.hp2 HG03710.hp2 others(5): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0010t0002 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0201 others(5): Show |
8 | 263 | 0.0304 | 19 | c.201 others(38): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157369180 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03942.hp2 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 a0001c0001t0001g0273 a0001c0001t0001g0282 |
3 | 64 | 0.0469 | 19 | c.112 others(38): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157369193 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18947.hp2 NA18961.hp1 others(5): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0142 a0003c0002t0002g0219 a0003c0002t0002g0221 others(5): Show |
8 | 295 | 0.0271 | 19 | c.112 others(38): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157369193 | A | AAAACAAA others(12): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0225 | 1 | 288 | 0.0035 | 19 | c.112 others(38): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157369193 | A | ACAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0223 | 1 | 288 | 0.0035 | 19 | c.112 others(38): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157369193 | A | ACAAAACA others(12): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0182 | 1 | 288 | 0.0035 | 19 | c.112 others(38): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157481465 | C | CACACAAA others(12): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0082 | 1 | 177 | 0.0056 | 19 | c.139 others(38): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157481465 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0079 | 1 | 177 | 0.0056 | 19 | c.139 others(38): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157481466 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 226 | 0.0044 | 19 | c.139 others(38): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
VGLL2_chr6_117260558_117278565 | 117273683 | T | TTAGATAG others(12): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02486.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0053 others(1): Show |
14 | 296 | 0.0473 | 19 | c.*11 others(30): Show |
VGLL2 | ENSG00000170162.14 | transcript | ENST00000326274.6 | protein_coding | 119 | chr6 | TogoVar | |||||||
VGLL3_chr3_86932973_86996149 | 86992740 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 NA18960.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0078 others(1): Show |
4 | 128 | 0.0313 | 19 | c.-19 others(30): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 1592 | chr3 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296579 | A | AAATATAT others(12): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 194 | 0.0052 | 19 | c.*21 others(30): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2044 | chr1 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159039598 | T | TGGGTGGG others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(248): Show |
257 | 334 | 0.7695 | 19 | c.598 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159045891 | A | ATATATAC others(12): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0308 | 1 | 50 | 0.0200 | 19 | c.456 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159063787 | T | TGGGGGTC others(12): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 317 | 0.0032 | 19 | c.358 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159063806 | C | CGGGGGTC others(12): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0012 | a0001c0012t0042 | a0001c0012t0042g0267 | 1 | 267 | 0.0037 | 19 | c.358 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159063812 | T | TCCTGGTG others(12): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0019 | a0001c0019t0007 | a0001c0019t0007g0071 | 1 | 334 | 0.0030 | 19 | c.358 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159063844 | T | TGGGGGTC others(12): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0296 | 1 | 321 | 0.0031 | 19 | c.358 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159063878 | G | GGTCTGGG others(12): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18962.hp1 NA18971.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003a0001c0003t0027 | a0001c0001t0003g0322 a0001c0003t0003g0105 a0001c0003t0003g0106 others(3): Show |
6 | 165 | 0.0364 | 19 | c.358 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159063894 | G | GGGGATCT others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 334 | 0.0030 | 19 | c.358 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VLDLR_chr9_2616787_2665056 | 2662434 | T | TTGTCTGG others(12): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0142 | 1 | 390 | 0.0026 | 19 | c.*85 others(30): Show |
VLDLR | ENSG00000147852.17 | transcript | ENST00000382100.8 | protein_coding | 2379 | chr9 | TogoVar | |||||||
VMAC_chr19_5899872_5915853 | 5907610 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01255.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0069 a0001c0001t0003g0017 a0001c0001t0014g0017 |
6 | 60 | 0.1000 | 19 | c.192 others(36): Show |
VMAC | ENSG00000187650.4 | transcript | ENST00000339485.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59772950 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 a0001c0001t0003g0141 |
2 | 18 | 0.1111 | 19 | c.583 others(34): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VN1R1_chr19_57449790_57462140 | 57457969 | T | TGTGTGTG others(12): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 412 | 0.0024 | 19 | c.-14 others(30): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 830 | chr19 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119069999 | A | AAATAAAT others(12): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 a0001c0001t0001g0153 |
2 | 55 | 0.0364 | 19 | c.473 others(34): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77400223 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0177 | 1 | 124 | 0.0081 | 19 | c.919 others(38): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77411660 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0223 | 1 | 87 | 0.0115 | 19 | c.947 others(38): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99270131 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 NA19064.hp2 |
a0001a0009 | a0001c0002a0009c0015 | a0001c0002t0001a0009c0015t0004 | a0001c0002t0001g0068 a0009c0015t0004g0083 |
2 | 17 | 0.1176 | 19 | c.251 others(38): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99326452 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 34 | 0.0294 | 19 | c.282 others(40): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99474183 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0022 | a0004c0022t0004 | a0004c0022t0004g0122 | 1 | 59 | 0.0169 | 19 | c.366 others(38): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 24/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99657470 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0016t0004 | a0001c0001t0002g0069 a0001c0016t0004g0089 |
2 | 44 | 0.0455 | 19 | c.590 others(38): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 34/61 | chr8 | TogoVar | |||||||
VPS26A_chr10_69119178_69179412 | 69151264 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18990.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0087 a0001c0001t0002g0154 a0001c0001t0009g0099 |
3 | 260 | 0.0115 | 19 | c.154 others(36): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26B_chr11_134219671_134252788 | 134245017 | T | TGTGCGCT others(12): Show |
frameshift_variant | HIGH | NA18978.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0161 | 1 | 428 | 0.0023 | 19 | c.802 others(26): Show |
p.Leu others(5): Show |
VPS26B | ENSG00000151502.11 | transcript | ENST00000281187.10 | protein_coding | 5/6 | 1273/3661 | 821/1011 | 274/336 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
VPS26C_chr21_37218422_37272334 | 37255851 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03471.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0005g0246 others(1): Show |
4 | 49 | 0.0816 | 19 | c.57+ others(36): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122239749 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0309 | 1 | 47 | 0.0213 | 19 | c.116 others(36): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91017365 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02155.hp1 HG04204.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 a0001c0003t0001g0060 |
3 | 319 | 0.0094 | 19 | c.178 others(34): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 2/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91026979 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG02451.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0093 others(4): Show |
7 | 154 | 0.0455 | 19 | c.-47 others(30): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 4386 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91027000 | T | TTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0126 |
2 | 369 | 0.0054 | 19 | c.-47 others(30): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 4407 | chr15 | TogoVar | |||||||
VPS37C_chr11_61125257_61166426 | 61161665 | C | CGGCCCCG others(12): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 HG06807.hp1 NA18906.hp2 |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0009c0007t0001 | a0001c0001t0001g0142 a0001c0001t0001g0152 a0009c0007t0001g0143 |
3 | 210 | 0.0143 | 19 | c.-28 others(28): Show |
VPS37C | ENSG00000167987.11 | transcript | ENST00000301765.10 | protein_coding | 240 | chr11 | TogoVar |