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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13A_chr9_77172534_77426537 | 77341691 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01167.hp2 others(7): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0005a0001c0006t0005a0001c0006t0012 | a0001c0005t0005g0026 a0001c0005t0005g0030 a0001c0005t0005g0031 others(7): Show |
10 | 66 | 0.1515 | 9 | c.702 others(28): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 50/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77414739 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(122): Show |
a0001a0008a0010others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(20): Show | a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 others(122): Show |
125 | 196 | 0.6378 | 9 | c.947 others(28): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77426279 | G | GGGTGAGC others(2): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 HG02004.hp1 HG02015.hp1 others(42): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0025a0001c0037others(10): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0025others(18): Show | a0001c0001t0003g0087 a0001c0001t0003g0257 a0001c0001t0003g0267 others(42): Show |
45 | 346 | 0.1301 | 9 | c.*10 others(22): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 4743 | chr9 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99144377 | T | TGGTCTCC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00741.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0002t0001g0047 others(2): Show |
5 | 132 | 0.0379 | 9 | c.184 others(28): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 13/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99262769 | C | CTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01106.hp1 others(4): Show |
a0001a0003a0017 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0076 a0001c0002t0001g0047 a0001c0002t0002g0046 others(4): Show |
7 | 108 | 0.0648 | 9 | c.251 others(30): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99270131 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01515.hp2 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0002a0001c0002t0009a0001c0008t0005others(3): Show | a0001c0001t0002g0018 a0001c0002t0009g0015 a0001c0008t0005g0124 others(4): Show |
7 | 22 | 0.3182 | 9 | c.251 others(28): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99303730 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01106.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0003others(4): Show | a0001c0001t0001g0114 a0001c0001t0002g0075 a0001c0001t0002g0110 others(6): Show |
9 | 55 | 0.1636 | 9 | c.282 others(30): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99326452 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0001t0002g0062 others(8): Show |
11 | 44 | 0.2500 | 9 | c.282 others(30): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99624008 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | NA19003.hp2 NA19063.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0033 a0001c0002t0001g0023 |
2 | 106 | 0.0189 | 9 | c.522 others(30): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99657470 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 a0001c0002t0001g0039 |
2 | 44 | 0.0455 | 9 | c.590 others(28): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 34/61 | chr8 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12380471 | C | CCTCTGTC others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(17): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0006a0001c0008others(8): Show | a0001c0001t0010a0001c0006t0003a0001c0006t0010others(9): Show | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(17): Show |
20 | 152 | 0.1316 | 9 | c.111 others(28): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12381922 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01109.hp2 HG02056.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0004g0126 others(5): Show |
8 | 86 | 0.0930 | 9 | c.111 others(30): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS26C_chr21_37218422_37272334 | 37255851 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00673.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0192 a0001c0001t0002g0026 others(35): Show |
43 | 88 | 0.4886 | 9 | c.57+ others(26): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19615968 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0130 others(19): Show |
22 | 89 | 0.2472 | 9 | c.102 others(26): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 12/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19622140 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00741.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0167 others(36): Show |
39 | 101 | 0.3861 | 9 | c.122 others(28): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35_chr16_46651132_46694178 | 46663862 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(59): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 others(43): Show |
62 | 66 | 0.9394 | 9 | c.164 others(26): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 13/16 | chr16 | TogoVar | |||||||
VPS37C_chr11_61125257_61166426 | 61163479 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02717.hp1 others(6): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0072 others(6): Show |
9 | 38 | 0.2368 | 9 | c.-20 others(20): Show |
VPS37C | ENSG00000167987.11 | transcript | ENST00000301765.10 | protein_coding | 2054 | chr11 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42188895 | G | GGCAGGGG others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0019 | a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 others(1): Show |
4 | 334 | 0.0120 | 9 | c.342 others(24): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 5/24 | chr15 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720484 | T | TTATTATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 NA18946.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002a0001c0002t0008 | a0001c0001t0005g0047 a0001c0002t0002g0137 a0001c0002t0008g0004 |
4 | 264 | 0.0152 | 9 | c.*57 others(20): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2489 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38837178 | G | GAACATCT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02922.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0005a0001c0008a0001c0009 | a0001c0005t0031a0001c0005t0034a0001c0005t0054others(2): Show | a0001c0005t0031g0098 a0001c0005t0034g0196 a0001c0005t0054g0195 others(2): Show |
5 | 276 | 0.0181 | 9 | c.247 others(26): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 4/28 | chr7 | TogoVar | |||||||
VPS45_chr1_150062776_150150329 | 150143625 | G | GCCCTACA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02630.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(8): Show |
11 | 174 | 0.0632 | 9 | c.162 others(28): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | chr1 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63943727 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02257.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0002a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0002g0112 a0001c0003t0001g0180 a0001c0003t0003g0281 others(17): Show |
20 | 211 | 0.0948 | 9 | c.130 others(26): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 10/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 64005089 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00733.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0006 | a0001c0003t0003a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0003t0003g0281 a0001c0003t0003g0283 a0001c0003t0003g0295 others(9): Show |
12 | 37 | 0.3243 | 9 | c.-21 others(28): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184842186 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01192.hp2 others(17): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0004a0003c0005others(6): Show | a0002c0002t0001a0003c0004t0005a0003c0005t0001others(6): Show | a0002c0002t0001g0210 a0002c0002t0001g0270 a0003c0004t0005g0006 others(17): Show |
20 | 119 | 0.1681 | 9 | c.536 others(26): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58095293 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0016 a0001c0003t0001g0261 a0001c0003t0001g0263 others(6): Show |
9 | 321 | 0.0280 | 9 | c.543 others(26): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58151731 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01167.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0002 | a0001c0001t0001g0032 a0001c0001t0001g0289 a0001c0003t0001g0257 others(16): Show |
20 | 45 | 0.4444 | 9 | c.118 others(28): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58155488 | T | TGGGAAGT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02630.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 others(8): Show |
11 | 338 | 0.0325 | 9 | c.118 others(28): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
VRK3_chr19_49971468_50030372 | 49998948 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(24): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0073 others(22): Show |
27 | 109 | 0.2477 | 9 | c.613 others(26): Show |
VRK3 | ENSG00000105053.11 | transcript | ENST00000316763.8 | protein_coding | 6/14 | chr19 | TogoVar | |||||||
VRTN_chr14_74343471_74365008 | 74344733 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02145.hp2 HG02698.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0002a0003c0009t0002 | a0001c0001t0001g0089 a0001c0001t0002g0001 a0001c0001t0002g0003 others(3): Show |
7 | 77 | 0.0909 | 9 | c.-39 others(20): Show |
VRTN | ENSG00000133980.5 | transcript | ENST00000256362.5 | protein_coding | 3737 | chr14 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118078937 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01361.hp2 HG01981.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0001a0002c0013others(3): Show | a0001c0004t0003a0001c0004t0009a0001c0004t0089others(17): Show | a0001c0004t0003g0241 a0001c0004t0003g0313 a0001c0004t0009g0251 others(28): Show |
31 | 251 | 0.1235 | 9 | c.925 others(24): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
VSNL1_chr2_17535696_17662018 | 17576840 | C | CTGGTATG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG02015.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0168 others(24): Show |
28 | 230 | 0.1217 | 9 | c.-5- others(26): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSTM2A_chr7_54537375_54576067 | 54552794 | A | ATCTTTTA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02080.hp1 NA18961.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0049 |
4 | 380 | 0.0105 | 9 | c.634 others(26): Show |
VSTM2A | ENSG00000170419.11 | transcript | ENST00000402613.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VSTM2B_chr19_29520994_29569551 | 29553176 | C | CCATACAC others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01256.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0068 others(21): Show |
28 | 406 | 0.0690 | 9 | c.770 others(28): Show |
VSTM2B | ENSG00000187135.8 | transcript | ENST00000335523.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VSTM4_chr10_49009236_49120522 | 49020727 | A | AGGAAGGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0027others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 others(35): Show |
42 | 64 | 0.6563 | 9 | c.838 others(24): Show |
VSTM4 | ENSG00000165633.13 | transcript | ENST00000332853.9 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
VTA1_chr6_142142263_142229685 | 142181094 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0098 a0001c0001t0002g0148 others(2): Show |
5 | 57 | 0.0877 | 9 | c.412 others(26): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
VTCN1_chr1_117138587_117215927 | 117195262 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01192.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0173 others(6): Show |
10 | 55 | 0.1818 | 9 | c.32+ others(26): Show |
VTCN1 | ENSG00000134258.18 | transcript | ENST00000369458.8 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
VTCN1_chr1_117138587_117215927 | 117210212 | T | TCAGCAGC others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01943.hp1 HG02257.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(15): Show |
21 | 181 | 0.1160 | 9 | c.32+ others(22): Show |
VTCN1 | ENSG00000134258.18 | transcript | ENST00000369458.8 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112811712 | A | AAAAAAAG others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02723.hp1 HG02965.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0001g0075 others(8): Show |
11 | 36 | 0.3056 | 9 | c.561 others(26): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
VTI1B_chr14_67642085_67679632 | 67642793 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG03654.hp1 HG03710.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0218 others(3): Show |
6 | 38 | 0.1579 | 9 | c.*85 others(20): Show |
VTI1B | ENSG00000100568.11 | transcript | ENST00000554659.6 | protein_coding | 4291 | chr14 | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114236495 | T | TTGGCTGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00642.hp2 others(56): Show |
a0001a0003a0006others(6): Show | a0001c0001a0001c0035a0003c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0035t0003others(30): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0002g0029 others(56): Show |
59 | 244 | 0.2418 | 9 | c.-30 others(20): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2758 | chr10 | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114236553 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02572.hp1 HG02622.hp1 others(2): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0010a0003c0003t0025a0003c0003t0038others(1): Show | a0003c0003t0010g0050 a0003c0003t0025g0051 a0003c0003t0038g0048 others(2): Show |
5 | 189 | 0.0265 | 9 | c.-30 others(20): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2700 | chr10 | TogoVar | |||||||
VWA3A_chr16_22087541_22161964 | 22113363 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(10): Show |
a0002a0005a0013others(1): Show | a0002c0002a0005c0005a0013c0010others(1): Show | a0002c0002t0001a0005c0005t0001a0013c0010t0001others(1): Show | a0002c0002t0001g0016 a0002c0002t0001g0179 a0002c0002t0001g0187 others(10): Show |
13 | 80 | 0.1625 | 9 | c.690 others(26): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22129402 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01175.hp2 others(28): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0008c0008others(2): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(27): Show |
31 | 104 | 0.2981 | 9 | c.165 others(28): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 17/33 | chr16 | TogoVar | |||||||
VWA3B_chr2_98082167_98318299 | 98102124 | C | CACCGCCC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(24): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0013a0001c0004t0001others(9): Show | a0001c0001t0003g0012 a0001c0001t0003g0236 a0001c0001t0013g0028 others(24): Show |
27 | 238 | 0.1134 | 9 | c.196 others(26): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98255180 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02109.hp2 HG02647.hp2 others(3): Show |
a0002a0005 | a0002c0002a0002c0012a0002c0016others(1): Show | a0002c0002t0004a0002c0012t0004a0002c0012t0011others(2): Show | a0002c0002t0004g0004 a0002c0002t0004g0005 a0002c0012t0004g0007 others(3): Show |
6 | 225 | 0.0267 | 9 | c.279 others(26): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41841820 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02970.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0249 others(1): Show |
4 | 176 | 0.0227 | 9 | c.142 others(28): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 12/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41959606 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 others(55): Show |
58 | 87 | 0.6667 | 9 | c.163 others(26): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 1/44 | chr13 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49857009 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01993.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0003c0003t0018 | a0001c0001t0001g0156 a0001c0001t0005g0116 a0001c0001t0005g0157 others(2): Show |
5 | 27 | 0.1852 | 9 | c.826 others(28): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49875369 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01071.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0149 others(14): Show |
17 | 54 | 0.3148 | 9 | c.827 others(28): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWF_chr12_5943877_6129670 | 6051039 | C | CTACGGTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(159): Show |
a0001a0002a0003others(55): Show | a0001c0006a0001c0007a0001c0010others(92): Show | a0001c0006t0001a0001c0007t0001a0001c0010t0001others(92): Show | a0001c0006t0001g0028 a0001c0006t0001g0113 a0001c0006t0001g0127 others(159): Show |
162 | 286 | 0.5664 | 9 | c.218 others(28): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 16/51 | chr12 | TogoVar |