| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UGT1A8_chr2_233612633_233778300 | 233724126 | A | ACCTCCCG others(44): Show |
intron_variant | MODIFIER | NA18962.hp2 NA19062.hp2 NA19081.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0177others(1): Show | 4 | 290 | 0.0138 | 51 | c.856 others(70): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A8_chr2_233612633_233778300 | 233724126 | A | ACCTCCCG others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(76): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0010a0001c0001t0001g0153a0001c0001t0001g0155others(76): Show | 79 | 290 | 0.2724 | 51 | c.856 others(70): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A8_chr2_233612633_233778300 | 233724126 | A | ACCTCCCG others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0102a0001c0001t0001g0103others(1): Show | 4 | 290 | 0.0138 | 51 | c.856 others(70): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A8_chr2_233612633_233778300 | 233724126 | A | ACCTCCCG others(44): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0006a0001c0001t0003g0283a0001c0001t0007g0242others(3): Show | 6 | 290 | 0.0207 | 51 | c.856 others(70): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A8_chr2_233612633_233778300 | 233724126 | A | ACCTCCTG others(44): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02735.hp2 HG03239.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0157a0001c0001t0001g0158others(5): Show | 8 | 290 | 0.0276 | 51 | c.856 others(70): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A8_chr2_233612633_233778300 | 233724149 | C | CGGGCAGG others(44): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 290 | 0.0035 | 51 | c.856 others(70): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A8_chr2_233612633_233778300 | 233724161 | C | CTGACCCC others(44): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012a0001c0001t0005g0075 | 2 | 290 | 0.0069 | 51 | c.856 others(70): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A9_chr2_233666898_233778300 | 233724126 | A | ACCTCCCG others(44): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19062.hp2 NA19081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0218a0001c0001t0001g0226a0001c0001t0001g0228others(1): Show | 4 | 318 | 0.0126 | 51 | c.856 others(70): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A9_chr2_233666898_233778300 | 233724126 | A | ACCTCCCG others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(84): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0071others(84): Show | 87 | 318 | 0.2736 | 51 | c.856 others(70): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A9_chr2_233666898_233778300 | 233724126 | A | ACCTCCCG others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157a0001c0001t0001g0184a0001c0001t0001g0193others(1): Show | 4 | 318 | 0.0126 | 51 | c.856 others(70): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A9_chr2_233666898_233778300 | 233724126 | A | ACCTCCCG others(44): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014a0001c0015 | a0001c0001t0003a0001c0014t0003a0001c0015t0001 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0015others(3): Show | 6 | 318 | 0.0189 | 51 | c.856 others(70): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A9_chr2_233666898_233778300 | 233724126 | A | ACCTCCTG others(44): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02735.hp1 HG03239.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0220a0001c0001t0001g0231others(4): Show | 7 | 318 | 0.0220 | 51 | c.856 others(70): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A9_chr2_233666898_233778300 | 233724149 | C | CGGGCAGG others(44): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 318 | 0.0031 | 51 | c.856 others(70): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A9_chr2_233666898_233778300 | 233724161 | C | CTGACCCC others(44): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0131a0001c0001t0005g0148 | 2 | 318 | 0.0063 | 51 | c.856 others(70): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UIMC1_chr5_176900006_177011779 | 176962135 | C | CGCCCGGC others(44): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0024a0001c0008t0001g0025 | 2 | 330 | 0.0061 | 51 | c.120 others(70): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 6/14 | chr5 | TogoVar | ||||||
| UNC5B_chr10_71207570_71307864 | 71296954 | G | GTGGGGCA others(44): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02280.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0058a0001c0003t0008 | a0001c0002t0058g0137a0001c0003t0008g0190 | 2 | 368 | 0.0054 | 51 | c.249 others(68): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | chr10 | TogoVar | ||||||
| UNC5B_chr10_71207570_71307864 | 71297003 | G | GTGGGGCA others(44): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0004 | a0004c0042 | a0004c0042t0053 | a0004c0042t0053g0229 | 1 | 368 | 0.0027 | 51 | c.249 others(68): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | chr10 | TogoVar | ||||||
| UNC80_chr2_209766832_210004296 | 209844446 | T | TCTCCTTT others(44): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0016 | a0016c0051 | a0016c0051t0001 | a0016c0051t0001g0183 | 1 | 188 | 0.0053 | 51 | c.345 others(70): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 21/64 | chr2 | TogoVar | ||||||
| URB1_chr21_32306018_32398012 | 32332564 | A | AGACAAAA others(44): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03453.hp2 |
a0011a0013 | a0011c0022a0013c0023 | a0011c0022t0003a0013c0023t0003 | a0011c0022t0003g0243a0013c0023t0003g0245 | 2 | 338 | 0.0059 | 51 | c.496 others(68): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 30/38 | chr21 | TogoVar | ||||||
| URB1_chr21_32306018_32398012 | 32332575 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0046 | a0001c0046t0027 | a0001c0046t0027g0057 | 1 | 338 | 0.0030 | 51 | c.496 others(68): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 30/38 | chr21 | TogoVar | ||||||
| USP30_chr12_109047576_109093023 | 109055400 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 396 | 0.0025 | 51 | c.84- others(66): Show |
USP30 | ENSG00000135093.13 | transcript | ENST00000257548.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| UTP6_chr17_31855904_31906708 | 31859356 | C | CGGGGGCG others(44): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG02027.hp1 HG03688.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0050a0001c0001t0003g0064a0001c0001t0003g0180others(1): Show | 4 | 324 | 0.0124 | 51 | c.*40 others(62): Show |
UTP6 | ENSG00000108651.10 | transcript | ENST00000261708.9 | protein_coding | 1547 | chr17 | TogoVar | ||||||
| UTRN_chr6_144280335_144858034 | 144360054 | T | TCCCCTTC others(44): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0017 | a0004c0017t0024 | a0004c0017t0024g0126 | 1 | 128 | 0.0078 | 51 | c.80- others(68): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 2/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| UTRN_chr6_144280335_144858034 | 144805695 | A | AAGTTCAA others(44): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01884.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0001c0039others(8): Show | a0001c0001t0006a0001c0009t0002a0001c0009t0011others(9): Show | a0001c0001t0006g0013a0001c0009t0002g0053a0001c0009t0011g0078others(10): Show | 13 | 128 | 0.1016 | 51 | c.935 others(70): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 65/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| VASH2_chr1_212945541_212996585 | 212973813 | T | TTTTTTAG others(44): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 378 | 0.0027 | 51 | c.880 others(66): Show |
VASH2 | ENSG00000143494.16 | transcript | ENST00000517399.3 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| VAV2_chr9_133756894_133997324 | 133958422 | A | ATATCTAA others(44): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0068 | 1 | 200 | 0.0050 | 51 | c.205 others(70): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 1/29 | chr9 | TogoVar | ||||||
| VCX2_chrX_8164944_8176267 | 8169306 | C | CCCTCCCT others(44): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0021 | a0021c0019 | a0021c0019t0001 | a0021c0019t0001g0031 | 1 | 115 | 0.0087 | 51 | c.*72 others(60): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 637 | chrX | TogoVar | ||||||
| VCX2_chrX_8164944_8176267 | 8169372 | C | CCCTCCCT others(44): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0006 | 1 | 115 | 0.0087 | 51 | c.*65 others(60): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 571 | chrX | TogoVar | ||||||
| VCX2_chrX_8164944_8176267 | 8169731 | C | CCCTCCCC others(44): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 HG02145.hp1 |
a0001a0006 | a0001c0002a0006c0013 | a0001c0002t0001a0006c0013t0010 | a0001c0002t0001g0001a0006c0013t0010g0027 | 2 | 115 | 0.0174 | 51 | c.*30 others(60): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 212 | chrX | TogoVar | ||||||
| VCX2_chrX_8164944_8176267 | 8169834 | C | CCCTCCCC others(44): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0006 | a0006c0013 | a0006c0013t0010 | a0006c0013t0010g0027 | 1 | 115 | 0.0087 | 51 | c.*19 others(60): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 109 | chrX | TogoVar | ||||||
| VCX3A_chrX_6528618_6540118 | 6532756 | C | CCTCCCTC others(44): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 74 | 0.0135 | 51 | c.*98 others(60): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 861 | chrX | TogoVar | ||||||
| VCX3A_chrX_6528618_6540118 | 6532756 | C | CCTCCCTC others(44): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0010 | a0010c0014 | a0010c0014t0005 | a0010c0014t0005g0038 | 1 | 74 | 0.0135 | 51 | c.*98 others(60): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 861 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466642 | A | AGGGAGGA others(44): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG02451.hp2 HG02922.hp1 others(10): Show |
a0003a0005a0013others(2): Show | a0003c0003a0005c0010a0013c0013others(2): Show | a0003c0003t0003a0005c0010t0003a0013c0013t0003others(2): Show | a0003c0003t0003g0004a0005c0010t0003g0004a0013c0013t0003g0004others(3): Show | 13 | 271 | 0.0480 | 51 | c.*25 others(60): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 133 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467071 | A | AGGGAGGG others(44): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 271 | 0.0037 | 51 | c.*68 others(60): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 562 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467180 | T | TGTGGGGA others(44): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 271 | 0.0037 | 51 | c.*79 others(60): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 671 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467180 | T | TGTGGGGA others(44): Show |
downstream_gene_variant | MODIFIER | NA19057.hp1 | a0013 | a0013c0013 | a0013c0013t0003 | a0013c0013t0003g0004 | 1 | 271 | 0.0037 | 51 | c.*79 others(60): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 671 | chrX | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467381 | A | AAGAGGTG others(44): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 HG03516.hp2 NA19030.hp1 |
a0003a0005 | a0003c0014a0005c0069 | a0003c0014t0003a0005c0069t0003 | a0003c0014t0003g0005a0005c0069t0003g0038 | 3 | 271 | 0.0111 | 51 | c.*99 others(60): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 872 | chrX | TogoVar | ||||||
| VCX_chrX_7838171_7849143 | 7839409 | C | CTGTCTAT others(44): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0001 | 1 | 341 | 0.0029 | 51 | c.-37 others(62): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 3761 | chrX | TogoVar | ||||||
| VCX_chrX_7838171_7849143 | 7844370 | A | AGGGAGGG others(44): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 2 | 341 | 0.0059 | 51 | c.*35 others(60): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 228 | chrX | TogoVar | ||||||
| VEGFB_chr11_64229584_64244264 | 64237126 | G | GAGAGAGA others(44): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 328 | 0.0031 | 51 | c.375 others(64): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
| VEGFB_chr11_64229584_64244264 | 64237126 | G | GAGAGAGA others(44): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 328 | 0.0031 | 51 | c.375 others(64): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
| VEGFB_chr11_64229584_64244264 | 64237126 | G | GAGAGAGA others(44): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19005.hp1 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0167 | 5 | 328 | 0.0152 | 51 | c.375 others(64): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
| VIPR2_chr7_159023175_159149867 | 159077700 | A | ATGCCTGT others(44): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0070 | 1 | 336 | 0.0030 | 51 | c.358 others(70): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
| VNN2_chr6_132738870_132762904 | 132758000 | T | TTTCTTCT others(44): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0061 | 1 | 436 | 0.0023 | 51 | c.-11 others(60): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 97 | chr6 | TogoVar | ||||||
| VPS13A_chr9_77172534_77426537 | 77193172 | G | GTTTTTTA others(44): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0030 | a0001c0030t0017 | a0001c0030t0017g0173 | 1 | 348 | 0.0029 | 51 | c.101 others(68): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 1/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| VPS33A_chr12_122224564_122271494 | 122226363 | A | AGGGAGGC others(44): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG03579.hp1 NA19007.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0005 | a0001c0001t0006g0307a0001c0001t0006g0308a0001c0003t0005g0020 | 3 | 346 | 0.0087 | 51 | c.*58 others(62): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 3200 | chr12 | TogoVar | ||||||
| VPS45_chr1_150062776_150150329 | 150065842 | T | TCAAAATG others(44): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 176 | 0.0057 | 51 | c.-20 others(62): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 1933 | chr1 | TogoVar | ||||||
| VSIG4_chrX_66016738_66045080 | 66037273 | A | AATATAAT others(44): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0065 | 2 | 218 | 0.0092 | 51 | c.55+ others(66): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| VSTM2B_chr19_29520994_29569551 | 29567622 | G | GGGCACAG others(44): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 406 | 0.0025 | 51 | c.*36 others(62): Show |
VSTM2B | ENSG00000187135.8 | transcript | ENST00000335523.8 | protein_coding | 3072 | chr19 | TogoVar | ||||||
| VWA8_chr13_41561835_41966109 | 41571283 | G | GTCTCCCT others(44): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0002 | a0001c0001t0002g0007a0001c0001t0002g0192a0001c0001t0002g0193others(1): Show | 4 | 250 | 0.0160 | 51 | c.537 others(68): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar |