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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VWA8_chr13_41561835_41966109 | 41563789 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0002 | a0001c0001t0002g0007 a0001c0001t0002g0175 a0001c0001t0002g0192 others(2): Show |
5 | 166 | 0.0301 | 8 | c.*44 others(19): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 3045 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41573610 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02129.hp2 HG02135.hp2 others(9): Show |
a0001a0008a0016others(1): Show | a0001c0001a0008c0008a0016c0014others(1): Show | a0001c0001t0001a0008c0008t0001a0016c0014t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0060 others(9): Show |
12 | 141 | 0.0851 | 8 | c.537 others(27): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41664389 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02165.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0170 a0001c0001t0001g0249 a0001c0001t0002g0191 others(2): Show |
5 | 85 | 0.0588 | 8 | c.461 others(27): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41677778 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01358.hp2 others(3): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0007others(1): Show | a0001c0001t0001a0003c0003t0001a0006c0007t0001others(1): Show | a0001c0001t0001g0132 a0003c0003t0001g0093 a0003c0003t0001g0096 others(3): Show |
6 | 220 | 0.0273 | 8 | c.432 others(27): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 35/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41758369 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01975.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0168 others(3): Show |
6 | 131 | 0.0458 | 8 | c.242 others(27): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 21/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41758398 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01981.hp2 HG02559.hp2 others(1): Show |
a0003a0006a0007 | a0003c0003a0006c0007a0007c0009 | a0003c0003t0001a0006c0007t0001a0007c0009t0001 | a0003c0003t0001g0076 a0006c0007t0001g0136 a0006c0007t0001g0137 others(1): Show |
4 | 201 | 0.0199 | 8 | c.242 others(27): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 21/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41763290 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG01993.hp2 others(24): Show |
a0001a0015 | a0001c0001a0001c0004a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0060 others(24): Show |
27 | 139 | 0.1942 | 8 | c.235 others(27): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 20/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41763308 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02056.hp1 HG02273.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0013others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0013t0001others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0105 a0002c0002t0001g0011 others(12): Show |
15 | 199 | 0.0754 | 8 | c.235 others(27): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 20/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41784697 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02080.hp1 HG02109.hp2 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0006others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0004others(3): Show | a0001c0001t0001g0237 a0001c0001t0001g0245 a0003c0003t0001g0094 others(6): Show |
9 | 191 | 0.0471 | 8 | c.217 others(25): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 18/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41784727 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02056.hp1 HG03579.hp1 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001a0005c0005t0005 | a0002c0002t0001g0101 a0005c0005t0001g0030 a0005c0005t0005g0004 |
3 | 152 | 0.0197 | 8 | c.217 others(25): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 18/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41784737 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01192.hp1 HG01256.hp2 others(21): Show |
a0002a0016 | a0002c0002a0016c0014 | a0002c0002t0001a0016c0014t0001 | a0002c0002t0001g0011 a0002c0002t0001g0020 a0002c0002t0001g0024 others(21): Show |
24 | 198 | 0.1212 | 8 | c.217 others(25): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 18/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41829530 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03927.hp2 NA18612.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0215 others(2): Show |
5 | 99 | 0.0505 | 8 | c.170 others(25): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 14/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41837035 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp2 others(28): Show |
a0001a0008a0010others(4): Show | a0001c0001a0001c0004a0001c0018others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0022 a0001c0001t0001g0062 a0001c0001t0001g0073 others(28): Show |
31 | 115 | 0.2696 | 8 | c.142 others(27): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 12/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41863427 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18612.hp2 NA18952.hp2 others(2): Show |
a0001a0017 | a0001c0001a0017c0020 | a0001c0001t0001a0017c0020t0001 | a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0209 others(2): Show |
5 | 159 | 0.0314 | 8 | c.142 others(27): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 12/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41959606 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02451.hp1 HG02486.hp1 others(3): Show |
a0001a0008a0010 | a0001c0001a0008c0008a0010c0012 | a0001c0001t0001a0001c0001t0002a0008c0008t0001others(1): Show | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0002g0163 others(3): Show |
6 | 35 | 0.1714 | 8 | c.163 others(25): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 1/44 | chr13 | TogoVar | |||||||
VWC2L_chr2_214406054_214583976 | 214520058 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0120 others(17): Show |
20 | 89 | 0.2247 | 8 | c.521 others(27): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214536975 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01496.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0108 a0001c0001t0001g0171 others(8): Show |
11 | 84 | 0.1310 | 8 | c.521 others(27): 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(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02735.hp2 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0003g0166 others(2): Show |
5 | 42 | 0.1190 | 8 | c.827 others(27): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49911923 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(15): Show | a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0124 others(48): Show |
52 | 93 | 0.5591 | 8 | c.827 others(21): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49911923 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18522.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0022a0002c0002t0046others(1): Show | a0001c0001t0001g0113 a0002c0002t0022g0226 a0002c0002t0046g0050 others(1): Show |
4 | 45 | 0.0889 | 8 | c.827 others(23): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWCE_chr11_61253286_61300316 | 61293241 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02559.hp1 others(13): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0017 others(9): Show |
16 | 110 | 0.1455 | 8 | c.111 others(25): Show |
VWCE | ENSG00000167992.14 | transcript | ENST00000335613.10 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
VWDE_chr7_12325885_12408865 | 12349236 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(92): Show |
a0003a0005a0010others(17): Show | a0003c0003a0005c0005a0010c0009others(18): Show | a0003c0003t0001a0005c0005t0001a0010c0009t0001others(18): Show | a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0014 others(72): Show |
95 | 372 | 0.2554 | 8 | c.388 others(27): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 19/28 | chr7 | TogoVar | |||||||
VWDE_chr7_12325885_12408865 | 12406019 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02895.hp1 others(6): Show |
a0002a0015a0020others(1): Show | a0002c0043a0015c0013a0020c0019others(1): Show | a0002c0043t0002a0015c0013t0002a0020c0019t0002others(1): Show | a0002c0043t0002g0269 a0015c0013t0002g0010 a0015c0013t0002g0270 others(4): Show |
9 | 118 | 0.0763 | 8 | c.-23 others(19): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 2155 | chr7 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5980091 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02074.hp1 HG02074.hp2 others(3): Show |
a0001a0002a0023others(1): Show | a0001c0042a0002c0012a0002c0176others(2): Show | a0001c0042t0001a0002c0012t0001a0002c0176t0001others(2): Show | a0001c0042t0001g0221 a0001c0042t0001g0222 a0002c0012t0001g0013 others(3): Show |
6 | 94 | 0.0638 | 8 | c.728 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 42/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5980245 | A | AAGTGACG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01074.hp1 others(20): Show |
a0001a0002a0004others(11): Show | a0001c0117a0002c0001a0004c0004others(13): Show | a0001c0117t0001a0002c0001t0001a0004c0004t0001others(13): Show | a0001c0117t0001g0144 a0002c0001t0001g0133 a0004c0004t0001g0063 others(20): Show |
23 | 180 | 0.1278 | 8 | c.728 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 42/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5980257 | T | TAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01891.hp1 HG02145.hp2 others(21): Show |
a0015a0016a0017others(12): Show | a0015c0018a0016c0016a0016c0060others(14): Show | a0015c0018t0001a0016c0016t0001a0016c0060t0001others(14): Show | a0015c0018t0001g0152 a0015c0018t0001g0286 a0016c0016t0001g0023 others(21): Show |
24 | 81 | 0.2963 | 8 | c.728 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 42/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983401 | G | GGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00642.hp1 others(21): Show |
a0001a0002a0007others(20): Show | a0001c0006a0002c0001a0007c0014others(21): Show | a0001c0006t0001a0002c0001t0001a0007c0014t0001others(21): Show | a0001c0006t0001g0242 a0002c0001t0001g0277 a0007c0014t0001g0218 others(21): Show |
24 | 61 | 0.3934 | 8 | c.697 others(25): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983476 | G | GATAGATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01175.hp1 others(30): Show |
a0001a0002a0004others(17): Show | a0001c0175a0002c0001a0002c0182others(22): Show | a0001c0175t0001a0002c0001t0001a0002c0182t0001others(22): Show | a0001c0175t0001g0223 a0002c0001t0001g0261 a0002c0182t0001g0252 others(30): Show |
33 | 284 | 0.1162 | 8 | c.697 others(25): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983794 | G | GAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01358.hp1 HG01891.hp1 others(12): Show |
a0001a0007a0016others(8): Show | a0001c0006a0007c0014a0016c0016others(8): Show | a0001c0006t0001a0007c0014t0001a0016c0016t0001others(8): Show | a0001c0006t0001g0028 a0007c0014t0001g0218 a0016c0016t0001g0023 others(12): Show |
15 | 66 | 0.2273 | 8 | c.697 others(25): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983974 | G | GGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00738.hp1 others(19): Show |
a0001a0003a0004others(8): Show | a0001c0006a0001c0007a0001c0010others(13): Show | a0001c0006t0001a0001c0007t0001a0001c0010t0001others(13): Show | a0001c0006t0001g0028 a0001c0006t0001g0188 a0001c0006t0001g0215 others(19): Show |
22 | 203 | 0.1084 | 8 | c.697 others(25): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5984017 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG03098.hp1 others(1): Show |
a0015a0048a0076others(1): Show | a0015c0056a0048c0177a0076c0069others(1): Show | a0015c0056t0001a0048c0177t0001a0076c0069t0001others(1): Show | a0015c0056t0001g0042 a0048c0177t0001g0045 a0076c0069t0001g0052 others(1): Show |
4 | 185 | 0.0216 | 8 | c.697 others(25): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5989747 | T | TGCTCTCA others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG03041.hp2 others(1): Show |
a0012a0032a0060 | a0012c0094a0032c0041a0060c0148 | a0012c0094t0001a0032c0041t0001a0060c0148t0001 | a0012c0094t0001g0248 a0032c0041t0001g0012 a0032c0041t0001g0247 others(1): Show |
4 | 286 | 0.0140 | 8 | c.679 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 38/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5999471 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(24): Show |
a0001a0002a0004others(12): Show | a0001c0175a0002c0001a0002c0011others(18): Show | a0001c0175t0001a0002c0001t0001a0002c0011t0001others(18): Show | a0001c0175t0001g0223 a0002c0001t0001g0220 a0002c0011t0001g0061 others(24): Show |
27 | 139 | 0.1942 | 8 | c.584 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 34/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6004717 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(183): Show |
a0001a0002a0003others(81): Show | a0001c0010a0001c0117a0001c0175others(117): Show | a0001c0010t0001a0001c0117t0001a0001c0175t0001others(117): Show | a0001c0010t0001g0059 a0001c0010t0001g0097 a0001c0117t0001g0144 others(183): Show |
186 | 286 | 0.6504 | 8 | c.584 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 34/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6009426 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03017.hp2 NA18971.hp1 others(1): Show |
a0001a0008a0012others(1): Show | a0001c0175a0008c0181a0012c0091others(1): Show | a0001c0175t0001a0008c0181t0001a0012c0091t0001others(1): Show | a0001c0175t0001g0223 a0008c0181t0001g0271 a0012c0091t0001g0120 others(1): Show |
4 | 14 | 0.2857 | 8 | c.584 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 34/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6027849 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02004.hp1 HG02647.hp1 others(6): Show |
a0003a0004a0005others(4): Show | a0003c0005a0003c0024a0004c0103others(6): Show | a0003c0005t0001a0003c0024t0001a0004c0103t0001others(6): Show | a0003c0005t0001g0110 a0003c0024t0001g0111 a0004c0103t0001g0132 others(6): Show |
9 | 29 | 0.3103 | 8 | c.296 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 22/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6055759 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00639.hp2 others(34): Show |
a0001a0002a0003others(12): Show | a0001c0006a0001c0007a0001c0010others(23): Show | a0001c0006t0001a0001c0007t0001a0001c0010t0001others(23): Show | a0001c0006t0001g0113 a0001c0007t0001g0253 a0001c0010t0001g0059 others(34): Show |
37 | 243 | 0.1523 | 8 | c.194 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 15/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6055761 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01891.hp2 others(21): Show |
a0001a0004a0006others(18): Show | a0001c0130a0004c0004a0006c0035others(18): Show | a0001c0130t0001a0004c0004t0001a0006c0035t0001others(18): Show | a0001c0130t0001g0187 a0004c0004t0001g0139 a0006c0035t0001g0229 others(21): Show |
24 | 42 | 0.5714 | 8 | c.194 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 15/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6068830 | T | TTGCGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02451.hp1 others(10): Show |
a0013a0015a0016others(7): Show | a0013c0017a0015c0055a0016c0016others(8): Show | a0013c0017t0001a0015c0055t0001a0016c0016t0001others(8): Show | a0013c0017t0001g0129 a0013c0017t0001g0130 a0015c0055t0001g0005 others(10): Show |
13 | 265 | 0.0491 | 8 | c.115 others(27): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 10/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6092610 | T | TGAGAGTG others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 HG02735.hp2 others(3): Show |
a0005a0027a0066others(3): Show | a0005c0002a0027c0020a0066c0158others(3): Show | a0005c0002t0001a0027c0020t0001a0066c0158t0001others(3): Show | a0005c0002t0001g0214 a0027c0020t0001g0041 a0066c0158t0001g0116 others(3): Show |
6 | 254 | 0.0236 | 8 | c.657 others(25): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 6/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6092614 | T | TGAGTGAG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02148.hp2 HG03492.hp1 others(1): Show |
a0005a0055a0095 | a0005c0002a0055c0077a0095c0119 | a0005c0002t0001a0055c0077t0001a0095c0119t0001 | a0005c0002t0001g0202 a0005c0002t0001g0211 a0055c0077t0001g0186 others(1): Show |
4 | 169 | 0.0237 | 8 | c.657 others(25): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 6/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6108334 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03704.hp2 HG03710.hp1 NA18964.hp1 |
a0001a0002a0004 | a0001c0027a0002c0043a0004c0093 | a0001c0027t0001a0002c0043t0001a0004c0093t0001 | a0001c0027t0001g0207 a0002c0043t0001g0262 a0004c0093t0001g0228 |
3 | 96 | 0.0313 | 8 | c.532 others(25): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 5/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6108334 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18747.hp1 NA18994.hp2 |
a0002a0008 | a0002c0001a0002c0043a0008c0135 | a0002c0001t0001a0002c0043t0001a0008c0135t0001 | a0002c0001t0001g0235 a0002c0043t0001g0251 a0008c0135t0001g0230 |
3 | 96 | 0.0313 | 8 | c.532 others(25): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 5/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6125300 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02004.hp2 others(4): Show |
a0004a0019a0030others(4): Show | a0004c0004a0019c0080a0030c0151others(4): Show | a0004c0004t0001a0019c0080t0001a0030c0151t0001others(4): Show | a0004c0004t0001g0232 a0019c0080t0001g0077 a0030c0151t0001g0151 others(4): Show |
7 | 74 | 0.0946 | 8 | c.-88 others(17): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 631 | chr12 | TogoVar | |||||||
VXN_chr8_66488566_66523524 | 66506232 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01070.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 others(19): Show |
32 | 133 | 0.2406 | 8 | c.280 others(23): Show |
VXN | ENSG00000169085.14 | transcript | ENST00000305454.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
WAC_chr10_28528118_28628112 | 28551784 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00597.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0069 a0001c0001t0001g0118 a0001c0001t0001g0121 others(36): Show |
39 | 110 | 0.3545 | 8 | c.274 others(27): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WAC_chr10_28528118_28628112 | 28556388 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00639.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 others(24): Show |
27 | 69 | 0.3913 | 8 | c.274 others(27): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WAC_chr10_28528118_28628112 | 28559136 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0016others(2): Show | a0001c0001t0006g0297 a0001c0001t0010g0285 a0001c0001t0010g0287 others(8): Show |
11 | 43 | 0.2558 | 8 | c.274 others(27): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WAC_chr10_28528118_28628112 | 28563744 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG01123.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0282 a0001c0001t0002g0014 a0001c0001t0002g0015 others(13): Show |
16 | 82 | 0.1951 | 8 | c.275 others(27): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WAC_chr10_28528118_28628112 | 28626049 | A | ATTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01168.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0004g0222 a0001c0001t0004g0279 a0001c0001t0010g0276 others(8): Show |
11 | 33 | 0.3333 | 8 | c.*64 others(19): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 2938 | chr10 | TogoVar |