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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VRTN_chr14_74343471_74365008 | 74344733 | T | TAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0025 others(1): Show |
4 | 74 | 0.0541 | 13 | c.-39 others(24): Show |
VRTN | ENSG00000133980.5 | transcript | ENST00000256362.5 | protein_coding | 3737 | chr14 | TogoVar | |||||||
VRTN_chr14_74343471_74365008 | 74362976 | G | GGAGTCTG others(6): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 426 | 0.0023 | 13 | c.*40 others(24): Show |
VRTN | ENSG00000133980.5 | transcript | ENST00000256362.5 | protein_coding | 2969 | chr14 | TogoVar | |||||||
VSIG10L_chr19_51326541_51347139 | 51328339 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02145.hp1 others(9): Show |
a0003a0006a0007 | a0003c0005a0006c0008a0007c0009 | a0003c0005t0001a0006c0008t0004a0007c0009t0001 | a0003c0005t0001g0103 a0006c0008t0004g0011 a0007c0009t0001g0016 others(1): Show |
12 | 396 | 0.0303 | 13 | c.*42 others(24): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 3201 | chr19 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118078937 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02109.hp2 HG02258.hp1 others(2): Show |
a0001a0002a0004 | a0001c0004a0002c0001a0004c0007 | a0001c0004t0009a0002c0001t0077a0004c0007t0017others(1): Show | a0001c0004t0009g0327 a0002c0001t0077g0209 a0004c0007t0017g0212 others(2): Show |
5 | 225 | 0.0222 | 13 | c.925 others(28): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118087855 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0008a0002c0003others(5): Show | a0001c0002t0003a0001c0002t0009a0001c0002t0018others(17): Show | a0001c0002t0003g0033 a0001c0002t0003g0060 a0001c0002t0003g0278 others(37): Show |
40 | 395 | 0.1013 | 13 | c.362 others(30): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
VSIG2_chr11_124742474_124757255 | 124743902 | G | GAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG02723.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0039 others(3): Show |
7 | 229 | 0.0306 | 13 | c.*36 others(24): Show |
VSIG2 | ENSG00000019102.12 | transcript | ENST00000326621.10 | protein_coding | 3571 | chr11 | TogoVar | |||||||
VSIG2_chr11_124742474_124757255 | 124749885 | A | AACAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02135.hp2 HG02258.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0018 others(2): Show |
23 | 309 | 0.0744 | 13 | c.428 others(26): Show |
VSIG2 | ENSG00000019102.12 | transcript | ENST00000326621.10 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
VSIG2_chr11_124742474_124757255 | 124749885 | A | ACAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 287 | 0.0035 | 13 | c.428 others(26): Show |
VSIG2 | ENSG00000019102.12 | transcript | ENST00000326621.10 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66032373 | T | TCTCCCAA others(6): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 216 | 0.0046 | 13 | c.694 others(26): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 3/7 | chrX | TogoVar | |||||||
VSNL1_chr2_17535696_17662018 | 17642309 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01517.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0020 a0001c0001t0004g0032 a0001c0001t0006g0027 |
3 | 73 | 0.0411 | 13 | c.163 others(30): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSTM1_chr19_54035825_54068897 | 54058239 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03927.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0193 a0002c0002t0001g0194 |
2 | 241 | 0.0083 | 13 | c.355 others(26): Show |
VSTM1 | ENSG00000189068.11 | transcript | ENST00000338372.7 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
VSTM4_chr10_49009236_49120522 | 49020727 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01081.hp1 others(43): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0024a0002c0002t0001a0002c0002t0011others(3): Show | a0001c0001t0024g0190 a0002c0002t0001g0010 a0002c0002t0001g0011 others(41): Show |
46 | 68 | 0.6765 | 13 | c.838 others(28): Show |
VSTM4 | ENSG00000165633.13 | transcript | ENST00000332853.9 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
VSTM4_chr10_49009236_49120522 | 49070252 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 208 | 0.0048 | 13 | c.635 others(30): Show |
VSTM4 | ENSG00000165633.13 | transcript | ENST00000332853.9 | protein_coding | 4/7 | chr10 | TogoVar | |||||||
VSX2_chr14_74234449_74267738 | 74254784 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 82 | 0.0122 | 13 | c.580 others(30): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142181094 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0285 | 1 | 53 | 0.0189 | 13 | c.412 others(30): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142181094 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18969.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0003 |
2 | 54 | 0.0370 | 13 | c.412 others(30): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112455252 | T | TCACCTCC others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 133 | 0.0075 | 13 | c.95- others(28): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112625640 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02055.hp2 HG02559.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 others(14): Show |
17 | 63 | 0.2698 | 13 | c.428 others(32): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112652726 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00597.hp1 others(48): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(48): Show |
51 | 97 | 0.5258 | 13 | c.428 others(32): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112795431 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 1 | 97 | 0.0103 | 13 | c.561 others(32): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112811712 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0131 | 1 | 26 | 0.0385 | 13 | c.561 others(30): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
VTI1B_chr14_67642085_67679632 | 67642793 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG02280.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0025 | a0001c0001t0007g0021 a0001c0001t0007g0110 a0001c0001t0025g0258 |
3 | 35 | 0.0857 | 13 | c.*85 others(24): Show |
VTI1B | ENSG00000100568.11 | transcript | ENST00000554659.6 | protein_coding | 4291 | chr14 | TogoVar | |||||||
VWA1_chr1_1430690_1447882 | 1430968 | G | GAGAAGCA others(6): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 278 | 0.0036 | 13 | c.-47 others(24): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 4721 | chr1 | TogoVar | |||||||
VWA1_chr1_1430690_1447882 | 1435945 | C | CCGGGCGG others(6): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 134 | 0.0149 | 13 | c.73+ others(26): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114282017 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(155): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0035a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0031 a0001c0001t0001g0102 a0001c0001t0001g0126 others(155): Show |
158 | 224 | 0.7054 | 13 | c.834 others(28): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22129402 | A | AGAAAGAA others(6): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0159 a0002c0002t0001g0005 |
2 | 75 | 0.0267 | 13 | c.165 others(32): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 17/33 | chr16 | TogoVar | |||||||
VWA3A_chr16_22087541_22161964 | 22154960 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18522.hp1 NA20129.hp2 |
a0002a0012 | a0002c0002a0012c0011 | a0002c0002t0003a0012c0011t0001 | a0002c0002t0003g0262 a0012c0011t0001g0214 a0012c0011t0001g0215 |
3 | 28 | 0.1071 | 13 | c.340 others(30): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 31/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98183189 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0018 | a0018c0028 | a0018c0028t0002 | a0018c0028t0002g0216 | 1 | 165 | 0.0061 | 13 | c.131 others(32): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA5B2_chr3_184224585_184247329 | 184224680 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00621.hp2 others(44): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0003others(10): Show | a0001c0001t0001g0009 a0001c0001t0003g0069 a0001c0001t0003g0070 others(14): Show |
47 | 229 | 0.2052 | 13 | c.-51 others(24): Show |
VWA5B2 | ENSG00000145198.15 | transcript | ENST00000691901.1 | protein_coding | 4904 | chr3 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41571272 | G | GTCCCTCT others(6): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0090 | 1 | 246 | 0.0041 | 13 | c.537 others(30): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41571297 | T | TCTCCCTC others(6): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02486.hp2 HG03579.hp1 |
a0005a0006 | a0005c0005a0006c0007 | a0005c0005t0005a0006c0007t0001 | a0005c0005t0005g0001 a0005c0005t0005g0004 a0006c0007t0001g0099 |
3 | 235 | 0.0128 | 13 | c.537 others(30): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41573480 | A | ATAAATAA others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03579.hp1 HG03579.hp2 |
a0005a0008 | a0005c0005a0008c0008 | a0005c0005t0005a0008c0008t0001 | a0005c0005t0005g0001 a0005c0005t0005g0004 a0008c0008t0001g0189 |
3 | 248 | 0.0121 | 13 | c.537 others(32): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41630264 | T | TTCTCATG others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01496.hp2 others(9): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0008 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0170 a0001c0001t0002g0005 a0001c0001t0002g0006 others(9): Show |
12 | 248 | 0.0484 | 13 | c.461 others(34): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41841820 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0240 a0004c0006t0001g0241 |
2 | 174 | 0.0115 | 13 | c.142 others(32): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 12/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41881372 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02602.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0008g0104 |
3 | 36 | 0.0833 | 13 | c.108 others(32): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 9/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41881387 | G | GGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 157 | 0.0064 | 13 | c.108 others(32): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 9/44 | chr13 | TogoVar | |||||||
VWC2L_chr2_214406054_214583976 | 214421883 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0131 |
2 | 279 | 0.0072 | 13 | c.390 others(30): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214427343 | A | ATTTTTCT others(6): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 280 | 0.0036 | 13 | c.391 others(30): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214470916 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0275 | 1 | 30 | 0.0333 | 13 | c.520 others(32): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214563546 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0042 others(9): Show |
12 | 14 | 0.8571 | 13 | c.521 others(32): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49875369 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 NA20752.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0047 | a0001c0001t0002g0213 a0002c0002t0047g0209 |
2 | 39 | 0.0513 | 13 | c.827 others(32): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49877477 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0041 | 1 | 236 | 0.0042 | 13 | c.827 others(32): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49877481 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 88 | 0.0114 | 13 | c.827 others(32): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWF_chr12_5943877_6129670 | 6057311 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02258.hp2 others(9): Show |
a0012a0015a0016others(8): Show | a0012c0095a0015c0055a0015c0056others(9): Show | a0012c0095t0001a0015c0055t0001a0015c0056t0001others(9): Show | a0012c0095t0001g0003 a0015c0055t0001g0005 a0015c0056t0001g0042 others(9): Show |
12 | 245 | 0.0490 | 13 | c.173 others(30): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 14/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6057311 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02055.hp2 HG02572.hp1 others(1): Show |
a0020a0043a0060others(1): Show | a0020c0054a0043c0073a0060c0148others(1): Show | a0020c0054t0001a0043c0073t0001a0060c0148t0001others(1): Show | a0020c0054t0001g0189 a0043c0073t0001g0076 a0060c0148t0001g0159 others(1): Show |
4 | 237 | 0.0169 | 13 | c.173 others(30): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 14/51 | chr12 | TogoVar | |||||||
WAC_chr10_28528118_28628112 | 28551819 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0047 | a0001c0001t0003g0092 a0001c0001t0047g0306 |
2 | 310 | 0.0065 | 13 | c.274 others(32): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
WAC_chr10_28528118_28628112 | 28559136 | A | ATTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0307 | 1 | 33 | 0.0303 | 13 | c.274 others(32): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WAC_chr10_28528118_28628112 | 28614395 | A | AGTTTCTT others(6): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0307 | 1 | 320 | 0.0031 | 13 | c.143 others(30): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WAC_chr10_28528118_28628112 | 28626049 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG01069.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 others(13): Show |
16 | 38 | 0.4211 | 13 | c.*64 others(24): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 2938 | chr10 | TogoVar | |||||||
WAPL_chr10_86430256_86526792 | 86505300 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01192.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0300 a0001c0001t0001g0302 others(13): Show |
16 | 170 | 0.0941 | 13 | c.500 others(30): Show |
WAPL | ENSG00000062650.20 | transcript | ENST00000298767.10 | protein_coding | 2/18 | chr10 | TogoVar |