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 | 41573485 | AAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(59): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0070 others(59): Show |
62 | 248 | 0.2500 | -3 | c.537 others(22): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41629634 | CATA | C | 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 | -3 | c.461 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41631666 | TGAA | T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02896.hp1 others(4): Show |
a0001a0009a0011others(1): Show | a0001c0001a0009c0010a0011c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0009c0010t0001others(2): Show | a0001c0001t0001g0072 a0001c0001t0002g0100 a0009c0010t0001g0197 others(4): Show |
7 | 248 | 0.0282 | -3 | c.461 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41663451 | ATTT | A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01496.hp2 others(17): Show |
a0001a0003a0008others(3): Show | a0001c0001a0003c0003a0008c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(5): Show | a0001c0001t0001g0072 a0001c0001t0001g0170 a0001c0001t0002g0005 others(17): Show |
20 | 248 | 0.0806 | -3 | c.461 others(22): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41709766 | TCTC | T | intron_variant | MODIFIER | HG01928.hp1 HG01943.hp1 HG01978.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0225 others(4): Show |
7 | 248 | 0.0282 | -3 | c.311 others(22): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 26/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41750432 | AAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(169): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0018others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0022 others(169): Show |
172 | 247 | 0.6964 | -3 | c.242 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 21/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41770901 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(34): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0195 a0001c0001t0001g0196 others(34): Show |
37 | 75 | 0.4933 | -3 | c.234 others(22): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 20/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41825456 | TTAG | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(30): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0003a0006c0007others(2): Show | a0001c0001t0011a0003c0003t0001a0003c0003t0002others(6): Show | a0001c0001t0011g0059 a0003c0003t0001g0076 a0003c0003t0001g0077 others(30): Show |
33 | 248 | 0.1331 | -3 | c.170 others(22): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 14/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41869631 | CAAA | C | intron_variant | MODIFIER | HG01981.hp2 HG02572.hp1 HG02630.hp1 others(7): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0009 | a0001c0001t0002a0003c0003t0001a0003c0003t0002others(3): Show | a0001c0001t0002g0163 a0003c0003t0001g0076 a0003c0003t0001g0090 others(7): Show |
10 | 76 | 0.1316 | -3 | c.108 others(22): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 9/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41901890 | ATAT | A | intron_variant | MODIFIER | HG01070.hp1 HG01169.hp2 HG01192.hp1 others(32): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0018others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0018t0001others(6): Show | a0001c0001t0001g0068 a0001c0001t0001g0132 a0001c0001t0001g0133 others(32): Show |
35 | 232 | 0.1509 | -3 | c.483 others(20): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 4/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41904839 | AAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01074.hp1 others(54): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0013others(2): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0006others(5): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(54): Show |
57 | 248 | 0.2298 | -3 | c.483 others(20): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 4/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41931279 | TAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(32): Show |
a0001a0003a0006others(4): Show | a0001c0001a0003c0003a0006c0007others(4): Show | a0001c0001t0001a0001c0001t0011a0003c0003t0001others(10): Show | a0001c0001t0001g0210 a0001c0001t0011g0059 a0003c0003t0001g0076 others(32): Show |
35 | 113 | 0.3097 | -3 | c.241 others(22): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 2/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41947951 | AAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01074.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0001g0081 others(9): Show |
12 | 248 | 0.0484 | -3 | c.241 others(20): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 2/44 | chr13 | TogoVar | |||||||
VWC2L_chr2_214406054_214583976 | 214428814 | CAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01106.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0112 others(8): Show |
11 | 114 | 0.0965 | -3 | c.391 others(20): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214436292 | AGAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00738.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0078 a0001c0001t0001g0079 others(57): Show |
60 | 280 | 0.2143 | -3 | c.391 others(18): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214456201 | GTTA | G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00673.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(31): Show |
34 | 280 | 0.1214 | -3 | c.520 others(22): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214464526 | GAGA | G | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 others(8): Show |
11 | 280 | 0.0393 | -3 | c.520 others(22): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214499009 | CTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG01975.hp2 NA18939.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0025 a0001c0001t0001g0160 a0001c0001t0001g0162 others(7): Show |
10 | 56 | 0.1786 | -3 | c.520 others(22): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214560036 | TATC | T | intron_variant | MODIFIER | HG01109.hp1 HG01975.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0245 a0001c0002t0004g0090 a0001c0002t0004g0141 others(4): Show |
7 | 280 | 0.0250 | -3 | c.521 others(22): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214563546 | CAAA | C | intron_variant | MODIFIER | HG03831.hp2 NA18948.hp2 NA18986.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0036 others(4): Show |
7 | 9 | 0.7778 | -3 | c.521 others(22): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214575034 | TAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(89): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 others(89): Show |
92 | 232 | 0.3966 | -3 | c.521 others(18): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214576949 | TTTG | T | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0193 a0001c0001t0007g0242 a0001c0001t0007g0243 others(2): Show |
5 | 280 | 0.0179 | -3 | c.*11 others(14): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 4/4 | 1133 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VWC2L_chr2_214406054_214583976 | 214579865 | CTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01256.hp1 HG01361.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0216 others(20): Show |
23 | 25 | 0.9200 | -3 | c.*40 others(14): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 890 | chr2 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49769584 | CTCT | C | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01243.hp2 others(39): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0051others(22): Show | a0001c0001t0001g0008 a0001c0001t0002g0200 a0001c0001t0051g0009 others(39): Show |
42 | 254 | 0.1654 | -3 | c.-46 others(14): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 4053 | chr7 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49772636 | AAAG | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01433.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0063a0002c0002t0001a0002c0002t0003others(11): Show | a0001c0001t0063g0217 a0002c0002t0001g0051 a0002c0002t0001g0053 others(23): Show |
27 | 254 | 0.1063 | -3 | c.-15 others(14): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 1001 | chr7 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49789419 | TCCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00597.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0179 others(19): Show |
22 | 254 | 0.0866 | -3 | c.697 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49826689 | CTTG | C | intron_variant | MODIFIER | HG02074.hp1 NA19064.hp1 |
a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0077 a0002c0002t0024g0216 |
2 | 254 | 0.0079 | -3 | c.826 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49852345 | AAAG | A | intron_variant | MODIFIER | NA18747.hp1 NA18944.hp1 NA19066.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0002a0003c0003t0034 | a0001c0001t0002g0194 a0002c0002t0002g0030 a0002c0002t0002g0090 others(1): Show |
4 | 254 | 0.0157 | -3 | c.826 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49857009 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(12): Show | a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0142 others(38): Show |
41 | 63 | 0.6508 | -3 | c.826 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49864073 | TTTG | T | intron_variant | MODIFIER | HG02922.hp1 HG03453.hp2 HG03688.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0051a0002c0002t0002a0002c0002t0050 | a0001c0001t0051g0009 a0002c0002t0002g0073 a0002c0002t0050g0100 |
3 | 254 | 0.0118 | -3 | c.827 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49864271 | GGGA | G | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02630.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0040a0001c0001t0041others(2): Show | a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0218 others(4): Show |
7 | 254 | 0.0276 | -3 | c.827 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49871874 | TATA | T | intron_variant | MODIFIER | HG01261.hp1 HG02280.hp1 HG02451.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0060others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0179 a0001c0001t0001g0183 others(18): Show |
21 | 254 | 0.0827 | -3 | c.827 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49871907 | AAAC | A | intron_variant | MODIFIER | HG02615.hp2 NA18944.hp1 NA18946.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0002a0003c0003t0006 | a0001c0001t0002g0188 a0001c0001t0002g0189 a0002c0002t0002g0030 others(1): Show |
4 | 250 | 0.0160 | -3 | c.827 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49884037 | ACTC | A | intron_variant | MODIFIER | HG01433.hp1 HG02809.hp2 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0013 | a0001c0001t0013g0219 a0002c0002t0013g0042 a0002c0002t0013g0046 others(1): Show |
4 | 254 | 0.0157 | -3 | c.827 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49886322 | TCAC | T | intron_variant | MODIFIER | HG01433.hp1 HG02630.hp1 HG02809.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0008a0001c0001t0013a0001c0001t0051others(6): Show | a0001c0001t0008g0185 a0001c0001t0008g0186 a0001c0001t0008g0195 others(14): Show |
17 | 254 | 0.0669 | -3 | c.827 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49892031 | ATTT | A | intron_variant | MODIFIER | HG01168.hp2 HG01993.hp2 HG02451.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0040a0002c0002t0001a0002c0002t0026others(3): Show | a0001c0001t0040g0003 a0002c0002t0001g0055 a0002c0002t0026g0254 others(3): Show |
6 | 41 | 0.1463 | -3 | c.827 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49896881 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0002 a0001c0001t0001g0113 a0001c0001t0001g0115 others(135): Show |
139 | 190 | 0.7316 | -3 | c.827 others(22): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49921755 | CTCA | C | 3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02630.hp1 HG02809.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0008a0001c0001t0013a0002c0002t0013others(4): Show | a0001c0001t0008g0185 a0001c0001t0008g0186 a0001c0001t0008g0195 others(12): Show |
15 | 254 | 0.0591 | -3 | c.*95 others(14): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 4/4 | 9572 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VWC2_chr7_49768638_49926950 | 49924157 | TAAC | T | downstream_gene_variant | MODIFIER | HG01261.hp1 HG02280.hp1 HG02451.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0060others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0179 a0001c0001t0001g0183 others(18): Show |
21 | 254 | 0.0827 | -3 | c.*11 others(16): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 2208 | chr7 | TogoVar | |||||||
VWCE_chr11_61253286_61300316 | 61277142 | AAAC | A | intron_variant | MODIFIER | HG02735.hp1 HG02735.hp2 |
a0001a0013 | a0001c0001a0013c0019 | a0001c0001t0001a0013c0019t0001 | a0001c0001t0001g0067 a0013c0019t0001g0034 |
2 | 188 | 0.0106 | -3 | c.140 others(20): Show |
VWCE | ENSG00000167992.14 | transcript | ENST00000335613.10 | protein_coding | 10/19 | chr11 | TogoVar | |||||||
VWDE_chr7_12325885_12408865 | 12341141 | TATA | T | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02451.hp1 others(6): Show |
a0002a0012a0028 | a0002c0043a0012c0011a0028c0029 | a0002c0043t0002a0012c0011t0002a0028c0029t0001 | a0002c0043t0002g0269 a0012c0011t0002g0015 a0012c0011t0002g0260 others(3): Show |
9 | 372 | 0.0242 | -3 | c.427 others(20): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 23/28 | chr7 | TogoVar | |||||||
VWDE_chr7_12325885_12408865 | 12367744 | TTAA | T | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp2 HG02965.hp2 others(4): Show |
a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0013 a0011c0010t0001g0036 a0011c0010t0001g0056 others(1): Show |
7 | 372 | 0.0188 | -3 | c.276 others(20): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 12/28 | chr7 | TogoVar | |||||||
VWDE_chr7_12325885_12408865 | 12396354 | CATG | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00733.hp2 others(10): Show |
a0006a0036 | a0006c0006a0006c0062a0036c0063 | a0006c0006t0001a0006c0062t0001a0036c0063t0001 | a0006c0006t0001g0012 a0006c0006t0001g0034 a0006c0006t0001g0148 others(7): Show |
13 | 372 | 0.0349 | -3 | c.59- others(18): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 1/28 | chr7 | TogoVar | |||||||
VWDE_chr7_12325885_12408865 | 12408226 | TATA | T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG01255.hp2 others(14): Show |
a0001a0002a0012others(7): Show | a0001c0001a0002c0041a0012c0011others(7): Show | a0001c0001t0001a0002c0041t0002a0012c0011t0002others(7): Show | a0001c0001t0001g0129 a0002c0041t0002g0266 a0012c0011t0002g0015 others(12): Show |
17 | 359 | 0.0474 | -3 | c.-45 others(14): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 4362 | chr7 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5945860 | AGGG | A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02145.hp1 others(4): Show |
a0006a0019a0029others(2): Show | a0006c0036a0019c0079a0029c0025others(2): Show | a0006c0036t0001a0019c0079t0001a0029c0025t0001others(2): Show | a0006c0036t0001g0208 a0006c0036t0001g0219 a0019c0079t0001g0009 others(4): Show |
7 | 286 | 0.0245 | -3 | c.*31 others(14): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 3016 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5946627 | TATC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(37): Show |
a0001a0002a0003others(32): Show | a0001c0033a0002c0012a0003c0024others(35): Show | a0001c0033t0001a0002c0012t0001a0003c0024t0001others(35): Show | a0001c0033t0001g0066 a0002c0012t0001g0086 a0002c0012t0001g0241 others(37): Show |
40 | 286 | 0.1399 | -3 | c.*23 others(14): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 2249 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5990906 | AAAT | A | intron_variant | MODIFIER | HG01358.hp1 HG01891.hp1 HG02109.hp1 others(6): Show |
a0016a0044a0049others(5): Show | a0016c0016a0016c0068a0044c0153others(6): Show | a0016c0016t0001a0016c0068t0001a0044c0153t0001others(6): Show | a0016c0016t0001g0023 a0016c0068t0001g0200 a0044c0153t0001g0156 others(6): Show |
9 | 286 | 0.0315 | -3 | c.679 others(20): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 38/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6057480 | TTTA | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(36): Show |
a0001a0002a0003others(24): Show | a0001c0126a0002c0001a0002c0176others(33): Show | a0001c0126t0001a0002c0001t0001a0002c0176t0001others(33): Show | a0001c0126t0001g0197 a0002c0001t0001g0055 a0002c0176t0001g0123 others(36): Show |
39 | 103 | 0.3786 | -3 | c.172 others(20): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 14/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6057608 | CTTT | C | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01192.hp1 others(18): Show |
a0001a0013a0014others(13): Show | a0001c0027a0001c0117a0013c0053others(15): Show | a0001c0027t0001a0001c0117t0001a0013c0053t0001others(15): Show | a0001c0027t0001g0069 a0001c0027t0001g0207 a0001c0117t0001g0144 others(18): Show |
21 | 262 | 0.0802 | -3 | c.172 others(20): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 14/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6086163 | TAAC | T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02723.hp1 others(2): Show |
a0019a0032a0048others(1): Show | a0019c0079a0032c0041a0048c0177others(1): Show | a0019c0079t0001a0032c0041t0001a0048c0177t0001others(1): Show | a0019c0079t0001g0009 a0032c0041t0001g0012 a0032c0041t0001g0247 others(2): Show |
5 | 286 | 0.0175 | -3 | c.657 others(20): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 6/51 | chr12 | TogoVar |