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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS26C_chr21_37218422_37272334 | 37235868 | TATATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01123.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0144 a0001c0001t0003g0035 others(8): Show |
13 | 396 | 0.0328 | -7 | c.352 others(24): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 3/7 | chr21 | TogoVar | |||||||
VPS26C_chr21_37218422_37272334 | 37235870 | TATATATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(110): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(88): Show |
113 | 396 | 0.2854 | -7 | c.352 others(24): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 3/7 | chr21 | TogoVar | |||||||
VPS26C_chr21_37218422_37272334 | 37235872 | TATATATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00733.hp1 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0065 others(37): Show |
56 | 396 | 0.1414 | -7 | c.352 others(24): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 3/7 | chr21 | TogoVar | |||||||
VPS26C_chr21_37218422_37272334 | 37248340 | TGGGGGGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(114): Show |
142 | 396 | 0.3586 | -7 | c.58- others(22): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122239749 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG01891.hp2 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0001g0050 a0001c0001t0001g0288 a0001c0001t0004g0005 others(33): Show |
42 | 346 | 0.1214 | -7 | c.116 others(24): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122249939 | AAATCCAC | A | frameshift_variant | HIGH | NA19072.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0086 | 1 | 346 | 0.0029 | -7 | c.700 others(14): Show |
p.Val others(5): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 6/13 | 792/4559 | 700/1791 | 234/596 | chr12 | TogoVar | |||
VPS35L_chr16_19550703_19706163 | 19590134 | GCCCCGCC | G | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0086 others(14): Show |
17 | 284 | 0.0599 | -7 | c.640 others(24): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19590139 | GCCCCCCC | G | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp2 HG01358.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0115 others(37): Show |
40 | 284 | 0.1409 | -7 | c.640 others(24): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS36_chr13_52407606_52455634 | 52418573 | CAAAAAAA | C | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0020others(1): Show | a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0199 others(4): Show |
8 | 338 | 0.0237 | -7 | c.841 others(22): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 10/13 | chr13 | TogoVar | |||||||
VPS36_chr13_52407606_52455634 | 52446086 | TAAAAATA | T | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG03017.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0208 others(2): Show |
7 | 338 | 0.0207 | -7 | c.97- others(22): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 1/13 | chr13 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122864109 | GCCCCCCC | G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01261.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0002g0011 others(17): Show |
22 | 266 | 0.0827 | -7 | c.*30 others(18): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 1220 | chr12 | TogoVar | |||||||
VPS37C_chr11_61125257_61166426 | 61143362 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(130): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0004a0005c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(102): Show |
133 | 212 | 0.6274 | -7 | c.-6- others(22): Show |
VPS37C | ENSG00000167987.11 | transcript | ENST00000301765.10 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720487 | TATATATA | T | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0036others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(5): Show |
9 | 278 | 0.0324 | -7 | c.*57 others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2486 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38768970 | CACAGCTA | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0016a0001c0001t0028a0001c0003t0001others(10): Show | a0001c0001t0016g0076 a0001c0001t0028g0069 a0001c0003t0001g0068 others(16): Show |
19 | 278 | 0.0684 | -7 | c.118 others(26): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 14/28 | chr7 | TogoVar | |||||||
VPS45_chr1_150062776_150150329 | 150064515 | GTACCCGC | G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01069.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0037 others(13): Show |
17 | 176 | 0.0966 | -7 | c.-33 others(18): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 3260 | chr1 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69331453 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01515.hp2 HG02602.hp1 HG02965.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0134 others(15): Show |
20 | 366 | 0.0546 | -7 | c.*71 others(18): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 4515 | chr16 | TogoVar | |||||||
VPS51_chr11_65091214_65116862 | 65101762 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01109.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0002c0005t0001 | a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0115 others(9): Show |
24 | 350 | 0.0686 | -7 | c.358 others(24): Show |
VPS51 | ENSG00000149823.10 | transcript | ENST00000279281.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 599775 | ACAAAAAC | A | intron_variant | MODIFIER | NA19087.hp1 NA19091.hp1 |
a0001 | a0001c0006 | a0001c0006t0020 | a0001c0006t0020g0006 a0001c0006t0020g0011 |
2 | 232 | 0.0086 | -7 | c.121 others(26): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 675767 | CAAAAAAA | C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02135.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0007a0001c0002t0010others(6): Show | a0001c0002t0005g0061 a0001c0002t0007g0058 a0001c0002t0007g0062 others(11): Show |
14 | 232 | 0.0603 | -7 | c.286 others(26): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 689464 | ATTTTTTT | A | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0028a0001c0001t0084a0001c0001t0087others(2): Show | a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0084g0046 others(3): Show |
6 | 232 | 0.0259 | -7 | c.285 others(24): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63908693 | CAACAGCA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0102 a0001c0001t0001g0103 |
3 | 304 | 0.0099 | -7 | c.262 others(26): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 20/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63921786 | AATGTATT | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0071 a0001c0001t0001g0078 others(3): Show |
6 | 304 | 0.0197 | -7 | c.174 others(24): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 12/22 | chr2 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184898127 | CCATTTTG | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp2 others(12): Show |
a0003a0004a0014others(1): Show | a0003c0005a0004c0008a0004c0018others(2): Show | a0003c0005t0001a0004c0008t0003a0004c0018t0001others(2): Show | a0003c0005t0001g0023 a0003c0005t0001g0024 a0003c0005t0001g0025 others(12): Show |
15 | 274 | 0.0547 | -7 | c.200 others(24): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | chr3 | TogoVar | |||||||
VRK1_chr14_96792382_96886609 | 96805984 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 others(2): Show |
5 | 278 | 0.0180 | -7 | c.-6+ others(22): Show |
VRK1 | ENSG00000100749.9 | transcript | ENST00000216639.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58145681 | TTATTACA | T | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0265 others(3): Show |
6 | 340 | 0.0177 | -7 | c.102 others(24): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK3_chr19_49971468_50030372 | 50010923 | CAAAAACA | C | intron_variant | MODIFIER | HG00741.hp2 HG02698.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 |
3 | 350 | 0.0086 | -7 | c.140 others(24): Show |
VRK3 | ENSG00000105053.11 | transcript | ENST00000316763.8 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118078937 | TAAAAAAA | T | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG02630.hp1 others(4): Show |
a0001a0002a0005 | a0001c0009a0001c0025a0002c0050others(1): Show | a0001c0009t0084a0001c0025t0011a0002c0050t0007others(1): Show | a0001c0009t0084g0182 a0001c0025t0011g0084 a0002c0050t0007g0085 others(4): Show |
7 | 412 | 0.0170 | -7 | c.925 others(22): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118078962 | AAAAAAAT | A | intron_variant | MODIFIER | HG02148.hp1 HG04204.hp2 NA18946.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0009a0002c0001a0003c0005others(1): Show | a0001c0009t0010a0002c0001t0001a0003c0005t0002others(1): Show | a0001c0009t0010g0157 a0002c0001t0001g0150 a0002c0001t0001g0151 others(3): Show |
6 | 412 | 0.0146 | -7 | c.925 others(22): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118083114 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00621.hp2 others(45): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0009others(16): Show | a0001c0002t0002a0001c0002t0042a0001c0002t0092others(33): Show | a0001c0002t0002g0393 a0001c0002t0042g0196 a0001c0002t0092g0391 others(45): Show |
48 | 412 | 0.1165 | -7 | c.362 others(22): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118096037 | TGCCTCAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01081.hp1 others(12): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0003 | a0001c0002t0003a0001c0002t0009a0001c0002t0013others(7): Show | a0001c0002t0003g0044 a0001c0002t0009g0333 a0001c0002t0009g0335 others(12): Show |
15 | 412 | 0.0364 | -7 | c.80- others(20): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
VSNL1_chr2_17535696_17662018 | 17622545 | AAAGAAAG | A | intron_variant | MODIFIER | HG01175.hp1 HG01981.hp2 HG02004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0014others(2): Show | a0001c0001t0003g0075 a0001c0001t0003g0086 a0001c0001t0003g0087 others(4): Show |
7 | 232 | 0.0302 | -7 | c.163 others(26): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSNL1_chr2_17535696_17662018 | 17658565 | CGAATTAT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0060 others(34): Show |
38 | 232 | 0.1638 | -7 | c.*31 others(18): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 1548 | chr2 | TogoVar | |||||||
VSTM1_chr19_54035825_54068897 | 54056847 | ATCCTTCT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0005 | a0001c0001t0001g0211 a0002c0002t0001g0209 a0002c0002t0001g0210 others(7): Show |
12 | 441 | 0.0272 | -7 | c.355 others(24): Show |
VSTM1 | ENSG00000189068.11 | transcript | ENST00000338372.7 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
VSTM2L_chr20_37898127_37950350 | 37936227 | TACCGGTG | T | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02572.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0001g0248 a0001c0001t0001g0298 a0001c0001t0001g0301 others(7): Show |
12 | 344 | 0.0349 | -7 | c.342 others(24): Show |
VSTM2L | ENSG00000132821.12 | transcript | ENST00000373461.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VSTM5_chr11_93813232_93855618 | 93851466 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(168): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0058 others(128): Show |
171 | 360 | 0.4750 | -7 | c.-97 others(16): Show |
VSTM5 | ENSG00000214376.6 | transcript | ENST00000409977.2 | protein_coding | 849 | chr11 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112455190 | TCACCTCC | T | intron_variant | MODIFIER | HG00140.hp1 HG01433.hp2 HG02040.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0047 a0001c0001t0001g0089 a0001c0001t0001g0094 others(14): Show |
17 | 168 | 0.1012 | -7 | c.95- others(22): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112455335 | CCCCCCTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 others(16): Show |
19 | 168 | 0.1131 | -7 | c.95- others(22): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112468630 | TCTGCCTA | T | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0141 a0001c0001t0004g0006 a0001c0001t0005g0085 |
3 | 168 | 0.0179 | -7 | c.264 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112662919 | TCTTACAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(60): Show |
63 | 168 | 0.3750 | -7 | c.428 others(24): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
VWA1_chr1_1430690_1447882 | 1431029 | CCCCCTCA | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0008 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(3): Show | a0001c0001t0001g0001 a0001c0001t0010g0036 a0001c0001t0015g0005 others(3): Show |
6 | 280 | 0.0214 | -7 | c.-47 others(18): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 4660 | chr1 | TogoVar | |||||||
VWA1_chr1_1430690_1447882 | 1431037 | CCCCCTCA | C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02015.hp1 others(7): Show |
a0001a0003a0011 | a0001c0001a0003c0007a0011c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0003g0040 others(4): Show |
10 | 280 | 0.0357 | -7 | c.-47 others(18): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 4652 | chr1 | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114236380 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01099.hp2 others(19): Show |
a0003a0006a0008 | a0003c0003a0006c0006a0008c0009 | a0003c0003t0010a0003c0003t0011a0003c0003t0017others(9): Show | a0003c0003t0010g0019 a0003c0003t0010g0050 a0003c0003t0011g0015 others(19): Show |
22 | 246 | 0.0894 | -7 | c.-31 others(18): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2873 | chr10 | TogoVar | |||||||
VWA5A_chr11_124110450_124152721 | 124145515 | GAAATATT | G | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01169.hp2 others(16): Show |
a0001a0004a0007others(3): Show | a0001c0008a0001c0015a0001c0021others(5): Show | a0001c0008t0008a0001c0008t0015a0001c0015t0008others(6): Show | a0001c0008t0008g0162 a0001c0008t0015g0030 a0001c0008t0015g0088 others(12): Show |
19 | 424 | 0.0448 | -7 | c.228 others(24): Show |
VWA5A | ENSG00000110002.16 | transcript | ENST00000456829.7 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41720040 | TCTCCTGC | T | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG02056.hp2 others(5): Show |
a0003a0006 | a0003c0003a0006c0007 | a0003c0003t0001a0006c0007t0001a0006c0007t0010 | a0003c0003t0001g0094 a0003c0003t0001g0135 a0006c0007t0001g0099 others(5): Show |
8 | 250 | 0.0320 | -7 | c.296 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 25/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41901865 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(39): Show |
a0001a0004a0009others(3): Show | a0001c0001a0004c0006a0009c0010others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(6): Show | a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 others(39): Show |
42 | 250 | 0.1680 | -7 | c.483 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 4/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41901884 | AAAAAAAT | A | intron_variant | MODIFIER | HG02027.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0001a0004a0008 | a0001c0001a0004c0006a0008c0008 | a0001c0001t0001a0004c0006t0009a0008c0008t0001others(1): Show | a0001c0001t0001g0195 a0001c0001t0001g0233 a0001c0001t0001g0240 others(4): Show |
7 | 250 | 0.0280 | -7 | c.483 others(24): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 4/44 | chr13 | TogoVar | |||||||
VWC2L_chr2_214406054_214583976 | 214426171 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0054 a0001c0001t0002g0071 a0001c0001t0002g0072 others(6): Show |
9 | 282 | 0.0319 | -7 | c.391 others(26): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214583090 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0198 a0001c0001t0001g0200 others(10): Show |
13 | 282 | 0.0461 | -7 | c.*72 others(18): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 4115 | chr2 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49800848 | CAAAAAAA | C | intron_variant | MODIFIER | HG01993.hp2 HG02055.hp2 HG02280.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0002c0002t0013a0002c0002t0030others(5): Show | a0002c0002t0003g0050 a0002c0002t0013g0043 a0002c0002t0030g0101 others(6): Show |
9 | 256 | 0.0352 | -7 | c.697 others(24): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49857009 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(18): Show | a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0124 others(55): Show |
59 | 256 | 0.2305 | -7 | c.826 others(26): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |