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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS8_chr3_184807166_185057604 | 184842186 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 | 1 | 100 | 0.0100 | 24 | c.536 others(41): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58120184 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0162 |
2 | 126 | 0.0159 | 24 | c.544 others(41): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137224 | C | CTCATATA others(17): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0273 | 1 | 75 | 0.0133 | 24 | c.856 others(41): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
VRK2_chr2_58041806_58164871 | 58151731 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 | 1 | 26 | 0.0385 | 24 | c.118 others(43): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSIG1_chrX_108040065_108084184 | 108047871 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 264 | 0.0038 | 24 | c.49+ others(39): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VSIG1_chrX_108040065_108084184 | 108047969 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 254 | 0.0039 | 24 | c.49+ others(39): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VSIG8_chr1_159849316_159867657 | 159857205 | G | GAGACCAG others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 456 | 0.0022 | 24 | c.652 others(39): Show |
VSIG8 | ENSG00000243284.1 | transcript | ENST00000368100.1 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
VSIR_chr10_71742556_71778520 | 71759846 | C | CACACATA others(17): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02523.hp2 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0057a0002c0002t0003 | a0001c0004t0057g0061 a0002c0002t0003g0035 |
4 | 252 | 0.0159 | 24 | c.568 others(41): Show |
VSIR | ENSG00000107738.20 | transcript | ENST00000394957.8 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
VSNL1_chr2_17535696_17662018 | 17642309 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0072 | 1 | 71 | 0.0141 | 24 | c.163 others(41): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSTM2A_chr7_54537375_54576067 | 54544478 | C | CTGGGGGA others(17): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188 | 1 | 380 | 0.0026 | 24 | c.80- others(37): Show |
VSTM2A | ENSG00000170419.11 | transcript | ENST00000402613.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VSTM2L_chr20_37898127_37950350 | 37903026 | C | CGGGAGGA others(17): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0159 a0001c0001t0001g0212 a0001c0001t0002g0191 others(1): Show |
4 | 73 | 0.0548 | 24 | c.-32 others(33): Show |
VSTM2L | ENSG00000132821.12 | transcript | ENST00000373461.9 | protein_coding | 100 | chr20 | TogoVar | |||||||
VSTM4_chr10_49009236_49120522 | 49096622 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0196 | 1 | 76 | 0.0132 | 24 | c.458 others(43): Show |
VSTM4 | ENSG00000165633.13 | transcript | ENST00000332853.9 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
VSTM5_chr11_93813232_93855618 | 93837011 | G | GCACACAC others(17): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0222 | 1 | 22 | 0.0455 | 24 | c.91+ others(41): Show |
VSTM5 | ENSG00000214376.6 | transcript | ENST00000409977.2 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
VSX2_chr14_74234449_74267738 | 74244909 | T | TGAGAGAG others(17): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0318 | 1 | 420 | 0.0024 | 24 | c.456 others(39): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VSX2_chr14_74234449_74267738 | 74254784 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0028 others(54): Show |
68 | 149 | 0.4564 | 24 | c.580 others(41): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142181094 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 53 | 0.0189 | 24 | c.412 others(41): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142181094 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19082.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0003 a0001c0001t0002g0187 a0001c0001t0012g0008 |
3 | 55 | 0.0545 | 24 | c.412 others(41): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VTA1_chr6_142142263_142229685 | 142181094 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 53 | 0.0189 | 24 | c.412 others(41): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VTCN1_chr1_117138587_117215927 | 117151535 | T | TATTGGTC others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0144 others(16): Show |
22 | 245 | 0.0898 | 24 | c.724 others(41): Show |
VTCN1 | ENSG00000134258.18 | transcript | ENST00000369458.8 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
VTCN1_chr1_117138587_117215927 | 117151535 | T | TATTGGTC others(17): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 224 | 0.0045 | 24 | c.724 others(41): Show |
VTCN1 | ENSG00000134258.18 | transcript | ENST00000369458.8 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
VTCN1_chr1_117138587_117215927 | 117157092 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02109.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 a0001c0001t0003g0171 |
2 | 127 | 0.0157 | 24 | c.98- others(37): Show |
VTCN1 | ENSG00000134258.18 | transcript | ENST00000369458.8 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112455169 | T | TCCTCCCC others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(64): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(64): Show |
67 | 136 | 0.4926 | 24 | c.95- others(39): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112455262 | T | TCCCCTCC others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 166 | 0.0060 | 24 | c.95- others(39): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112486645 | C | CAGAATAT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0053 others(29): Show |
32 | 144 | 0.2222 | 24 | c.264 others(43): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112486689 | T | TAGAATAT others(17): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0002g0023 |
2 | 166 | 0.0120 | 24 | c.264 others(43): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112537311 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02257.hp2 NA18962.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0108 a0001c0001t0001g0148 a0001c0001t0002g0149 others(1): Show |
4 | 27 | 0.1481 | 24 | c.343 others(39): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112611737 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 30 | 0.0333 | 24 | c.428 others(43): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618518 | T | TAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 105 | 0.0095 | 24 | c.428 others(43): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618522 | T | TAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18970.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017 | a0001c0001t0001g0120 a0001c0001t0002g0092 a0001c0001t0017g0098 |
3 | 73 | 0.0411 | 24 | c.428 others(43): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618524 | T | TAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02080.hp1 NA19002.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0145 a0001c0001t0002g0090 a0001c0004t0002g0016 |
3 | 4 | 0.7500 | 24 | c.428 others(43): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618524 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 2 | 0.5000 | 24 | c.428 others(43): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114246505 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 NA20129.hp1 |
a0003 | a0003c0003a0003c0007 | a0003c0003t0038a0003c0007t0014 | a0003c0003t0038g0048 a0003c0007t0014g0006 |
2 | 166 | 0.0120 | 24 | c.-10 others(41): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114271608 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03453.hp2 |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0010a0006c0006t0015 | a0003c0003t0010g0050 a0006c0006t0015g0052 |
2 | 167 | 0.0120 | 24 | c.372 others(41): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22115832 | G | GGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG04115.hp2 others(2): Show |
a0003a0004a0006 | a0003c0003a0004c0004a0006c0006 | a0003c0003t0001a0004c0004t0001a0006c0006t0001 | a0003c0003t0001g0043 a0003c0003t0001g0070 a0004c0004t0001g0014 others(2): Show |
5 | 239 | 0.0209 | 24 | c.815 others(39): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98166799 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 |
a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0086 a0007c0009t0002g0087 |
2 | 16 | 0.1250 | 24 | c.111 others(43): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291359 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02965.hp1 HG03195.hp2 |
a0002a0004 | a0002c0002a0004c0009 | a0002c0002t0001a0004c0009t0006 | a0002c0002t0001g0170 a0004c0009t0006g0196 a0004c0009t0006g0197 |
3 | 60 | 0.0500 | 24 | c.-27 others(39): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291359 | T | TTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0010 | a0010c0010 | a0010c0010t0011 | a0010c0010t0011g0138 | 1 | 58 | 0.0172 | 24 | c.-27 others(39): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41573610 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02015.hp1 NA19030.hp2 NA19062.hp1 others(2): Show |
a0001a0020 | a0001c0001a0001c0004a0020c0022 | a0001c0001t0001a0001c0004t0001a0020c0022t0001 | a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0004t0001g0123 others(2): Show |
5 | 134 | 0.0373 | 24 | c.537 others(43): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41784680 | T | TTATACAT others(17): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 247 | 0.0040 | 24 | c.217 others(41): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 18/44 | chr13 | TogoVar | |||||||
VWC2L_chr2_214406054_214583976 | 214561809 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 201 | 0.0050 | 24 | c.521 others(43): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214561809 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0030 others(11): Show |
14 | 214 | 0.0654 | 24 | c.521 others(43): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49871830 | C | CATACATA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02074.hp2 NA18747.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0021a0001c0001t0044others(3): Show | a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0021g0112 others(10): Show |
13 | 254 | 0.0512 | 24 | c.827 others(43): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49877481 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01074.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0009a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0009g0171 a0001c0001t0009g0174 a0002c0002t0001g0024 others(4): Show |
8 | 95 | 0.0842 | 24 | c.827 others(43): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWF_chr12_5943877_6129670 | 5964226 | A | ACATACAT others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02257.hp2 others(5): Show |
a0020a0028a0049others(5): Show | a0020c0019a0028c0038a0049c0078others(5): Show | a0020c0019t0001a0028c0038t0001a0049c0078t0001others(5): Show | a0020c0019t0001g0154 a0028c0038t0001g0246 a0049c0078t0001g0104 others(5): Show |
8 | 270 | 0.0296 | 24 | c.788 others(43): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 47/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5964230 | A | ACATACAT others(17): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0101 | a0101c0100 | a0101c0100t0001 | a0101c0100t0001g0103 | 1 | 282 | 0.0035 | 24 | c.788 others(43): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 47/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5964238 | A | ACATACAT others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03486.hp1 |
a0061a0084 | a0061c0167a0084c0044 | a0061c0167t0001a0084c0044t0001 | a0061c0167t0001g0004 a0084c0044t0001g0184 |
2 | 279 | 0.0072 | 24 | c.788 others(43): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 47/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983401 | G | GGATAGAT others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02040.hp1 NA18943.hp1 others(1): Show |
a0002a0004a0005 | a0002c0001a0004c0004a0005c0002 | a0002c0001t0001a0004c0004t0001a0005c0002t0001 | a0002c0001t0001g0029 a0004c0004t0001g0063 a0004c0004t0001g0075 others(1): Show |
4 | 41 | 0.0976 | 24 | c.697 others(41): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983521 | T | TTAGATAG others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03017.hp2 HG03654.hp2 others(8): Show |
a0005a0008a0009others(4): Show | a0005c0002a0008c0029a0008c0135others(5): Show | a0005c0002t0001a0008c0029t0001a0008c0135t0001others(5): Show | a0005c0002t0001g0125 a0008c0029t0001g0142 a0008c0135t0001g0230 others(8): Show |
11 | 220 | 0.0500 | 24 | c.697 others(41): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983794 | G | GAGATAGA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(32): Show |
a0001a0002a0003others(17): Show | a0001c0117a0002c0001a0002c0031others(23): Show | a0001c0117t0001a0002c0001t0001a0002c0031t0001others(23): Show | a0001c0117t0001g0144 a0002c0001t0001g0133 a0002c0001t0001g0261 others(32): Show |
35 | 86 | 0.4070 | 24 | c.697 others(41): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6092614 | T | TGAGTGAG others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 |
a0015a0022 | a0015c0055a0022c0015 | a0015c0055t0001a0022c0015t0001 | a0015c0055t0001g0005 a0022c0015t0001g0150 |
2 | 167 | 0.0120 | 24 | c.657 others(41): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 6/51 | chr12 | TogoVar |