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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS52_chr6_33245278_33276876 | 33263384 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG03516.hp2 NA20129.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0009 | a0001c0004t0001g0131 a0001c0004t0009g0133 |
2 | 307 | 0.0065 | 12 | c.179 others(27): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | |||||||
VPS52_chr6_33245278_33276876 | 33263414 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 a0001c0002t0001g0079 a0001c0002t0001g0105 |
4 | 131 | 0.0305 | 12 | c.179 others(27): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 543783 | A | AGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01099.hp1 HG02040.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0015a0001c0001t0091a0001c0001t0127others(13): Show | a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(29): Show |
32 | 107 | 0.2991 | 12 | c.186 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 543813 | A | AAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0105 | a0001c0001t0031g0196 a0001c0001t0105g0148 |
2 | 198 | 0.0101 | 12 | c.186 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 544035 | G | GAGGGAAG others(5): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0003 | a0002c0003t0086 | a0002c0003t0086g0175 | 1 | 213 | 0.0047 | 12 | c.186 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 656700 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03516.hp2 HG03831.hp2 others(20): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0075a0003c0004t0003a0003c0004t0004others(11): Show | a0001c0002t0075g0041 a0003c0004t0003g0018 a0003c0004t0003g0036 others(20): Show |
23 | 26 | 0.8846 | 12 | c.373 others(27): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 5/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 662751 | G | GAGAAAGA others(5): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18984.hp1 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0014 a0003c0004t0004g0040 |
2 | 126 | 0.0159 | 12 | c.286 others(27): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 662834 | A | AAAGGAAG others(5): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 94 | 0.0106 | 12 | c.286 others(27): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 662853 | G | GGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01099.hp1 others(21): Show |
a0002a0004a0005 | a0002c0003a0004c0008a0005c0009 | a0002c0003t0008a0002c0003t0009a0002c0003t0018others(14): Show | a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 others(21): Show |
24 | 209 | 0.1148 | 12 | c.286 others(27): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 669592 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03491.hp2 NA18979.hp2 |
a0002 | a0002c0003 | a0002c0003t0009a0002c0003t0082a0002c0003t0140 | a0002c0003t0009g0185 a0002c0003t0082g0184 a0002c0003t0140g0174 |
3 | 89 | 0.0337 | 12 | c.286 others(29): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 672109 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG01256.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0037a0001c0001t0095a0001c0002t0014others(7): Show | a0001c0001t0037g0126 a0001c0001t0095g0147 a0001c0002t0014g0074 others(8): Show |
11 | 27 | 0.4074 | 12 | c.286 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 672175 | A | ATCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(18): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0013others(12): Show | a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0079 others(18): Show |
21 | 31 | 0.6774 | 12 | c.286 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63938059 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0091 others(47): Show |
50 | 152 | 0.3289 | 12 | c.139 others(31): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 11/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63938059 | G | GTGGTGTG others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01243.hp2 others(23): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 others(23): Show |
26 | 128 | 0.2031 | 12 | c.139 others(31): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 11/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63985680 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 99 | 0.0101 | 12 | c.-20 others(29): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 64005089 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03540.hp2 NA19030.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0011 | a0001c0003t0003g0285 a0001c0003t0003g0286 a0001c0003t0011g0292 |
3 | 28 | 0.1071 | 12 | c.-21 others(31): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 64020148 | G | GACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0283 | 1 | 81 | 0.0123 | 12 | c.-12 others(23): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 721 | chr2 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184810633 | A | ATATCTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0073 | 1 | 53 | 0.0189 | 12 | c.-16 others(23): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 1532 | chr3 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184842186 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02698.hp2 NA18964.hp1 |
a0002a0014 | a0002c0002a0002c0042a0014c0035 | a0002c0002t0001a0002c0042t0001a0014c0035t0001 | a0002c0002t0001g0232 a0002c0042t0001g0231 a0014c0035t0001g0056 |
3 | 102 | 0.0294 | 12 | c.536 others(29): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184894508 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00735.hp2 others(21): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0023a0003c0012others(4): Show | a0001c0001t0002a0001c0023t0002a0003c0012t0001others(4): Show | a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0126 others(21): Show |
24 | 215 | 0.1116 | 12 | c.178 others(29): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 22/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184926376 | C | CAATAAAT others(5): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0018 a0004c0003t0001g0019 |
2 | 211 | 0.0095 | 12 | c.257 others(29): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184936515 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03225.hp1 HG04228.hp2 NA18941.hp2 others(5): Show |
a0001a0019 | a0001c0001a0001c0010a0019c0038 | a0001c0001t0002a0001c0010t0002a0019c0038t0001 | a0001c0001t0002g0081 a0001c0001t0002g0149 a0001c0001t0002g0188 others(5): Show |
8 | 44 | 0.1818 | 12 | c.298 others(29): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184950216 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01928.hp2 others(12): Show |
a0002a0004a0007 | a0002c0002a0002c0019a0004c0003others(1): Show | a0002c0002t0001a0002c0019t0001a0004c0003t0001others(1): Show | a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0167 others(12): Show |
15 | 27 | 0.5556 | 12 | c.303 others(31): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 36/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184962724 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0030 | 1 | 13 | 0.0769 | 12 | c.318 others(31): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 37/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184998479 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0272 | 1 | 3 | 0.3333 | 12 | c.383 others(31): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 185005625 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02257.hp1 HG02559.hp2 others(5): Show |
a0003a0006 | a0003c0012a0006c0007a0006c0034 | a0003c0012t0001a0006c0007t0001a0006c0034t0001 | a0003c0012t0001g0003 a0003c0012t0001g0052 a0006c0007t0001g0035 others(5): Show |
8 | 233 | 0.0343 | 12 | c.400 others(31): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 185031063 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0024 | 1 | 138 | 0.0072 | 12 | c.405 others(31): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VRK1_chr14_96792382_96886609 | 96808002 | C | CCTCTCTC others(5): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01074.hp2 others(29): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 others(25): Show |
32 | 202 | 0.1584 | 12 | c.-6+ others(29): Show |
VRK1 | ENSG00000100749.9 | transcript | ENST00000216639.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VRK1_chr14_96792382_96886609 | 96808002 | C | CGTCTCTC others(5): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02738.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0003t0001g0092 others(1): Show |
4 | 174 | 0.0230 | 12 | c.-6+ others(29): Show |
VRK1 | ENSG00000100749.9 | transcript | ENST00000216639.8 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
VRK2_chr2_58041806_58164871 | 58120184 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03540.hp1 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 a0001c0001t0001g0296 a0001c0001t0001g0297 others(2): Show |
5 | 129 | 0.0388 | 12 | c.544 others(29): 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(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01516.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0054 a0002c0002t0002g0051 a0002c0002t0002g0064 others(3): Show |
6 | 31 | 0.1935 | 12 | c.118 others(31): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK3_chr19_49971468_50030372 | 49998948 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 83 | 0.0120 | 12 | c.613 others(29): Show |
VRK3 | ENSG00000105053.11 | transcript | ENST00000316763.8 | protein_coding | 6/14 | chr19 | TogoVar | |||||||
VRK3_chr19_49971468_50030372 | 50019674 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 17 | 0.0588 | 12 | c.-2+ others(25): Show |
VRK3 | ENSG00000105053.11 | transcript | ENST00000316763.8 | protein_coding | 2/14 | chr19 | TogoVar | |||||||
VSIG10L2_chr11_125941044_125961319 | 125958561 | A | ATGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG01358.hp1 others(4): Show |
a0004a0012a0019 | a0004c0004a0012c0037a0019c0025 | a0004c0004t0001a0012c0037t0001a0019c0025t0001 | a0004c0004t0001g0009 a0004c0004t0001g0049 a0012c0037t0001g0053 others(1): Show |
7 | 426 | 0.0164 | 12 | c.*26 others(23): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 2243 | chr11 | TogoVar | |||||||
VSIG10L2_chr11_125941044_125961319 | 125958563 | A | ATGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01358.hp2 others(36): Show |
a0004a0010 | a0004c0004a0004c0008a0004c0026others(1): Show | a0004c0004t0001a0004c0008t0001a0004c0026t0001others(1): Show | a0004c0004t0001g0004 a0004c0004t0001g0009 a0004c0004t0001g0073 others(6): Show |
39 | 368 | 0.1060 | 12 | c.*26 others(23): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 2245 | chr11 | TogoVar | |||||||
VSIG10L2_chr11_125941044_125961319 | 125958565 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 a0002c0001t0001g0006 a0002c0001t0001g0069 others(1): Show |
5 | 98 | 0.0510 | 12 | c.*26 others(23): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 2247 | chr11 | TogoVar | |||||||
VSIG10L2_chr11_125941044_125961319 | 125958565 | A | ATATATGT others(5): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 NA18942.hp1 NA18972.hp2 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 5 | 98 | 0.0510 | 12 | c.*26 others(23): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 2247 | chr11 | TogoVar | |||||||
VSIG10L2_chr11_125941044_125961319 | 125958565 | A | ATATGTGT others(5): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 1 | 94 | 0.0106 | 12 | c.*26 others(23): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 2247 | chr11 | TogoVar | |||||||
VSIG10L2_chr11_125941044_125961319 | 125958565 | A | ATGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0059 | 1 | 94 | 0.0106 | 12 | c.*26 others(23): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 2247 | chr11 | TogoVar | |||||||
VSIG10L_chr19_51326541_51347139 | 51328339 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 HG03540.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0039 | 2 | 386 | 0.0052 | 12 | c.*42 others(23): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 3201 | chr19 | TogoVar | |||||||
VSIG10L_chr19_51326541_51347139 | 51332839 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0068 | 1 | 447 | 0.0022 | 12 | c.257 others(29): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118078937 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18973.hp2 |
a0001a0018 | a0001c0004a0018c0035 | a0001c0004t0001a0018c0035t0020 | a0001c0004t0001g0065 a0018c0035t0020g0232 |
2 | 222 | 0.0090 | 12 | c.925 others(27): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118087855 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01168.hp2 HG01256.hp1 others(1): Show |
a0001a0002a0003 | a0001c0008a0002c0003a0003c0006 | a0001c0008t0011a0002c0003t0001a0002c0003t0004others(1): Show | a0001c0008t0011g0030 a0002c0003t0001g0042 a0002c0003t0004g0046 others(1): Show |
4 | 359 | 0.0111 | 12 | c.362 others(29): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
VSIG1_chrX_108040065_108084184 | 108047843 | T | TACATATA others(5): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03486.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 3 | 235 | 0.0128 | 12 | c.49+ others(27): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VSIG1_chrX_108040065_108084184 | 108047941 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0179 a0001c0001t0001g0205 |
4 | 277 | 0.0144 | 12 | c.49+ others(27): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VSIG1_chrX_108040065_108084184 | 108047943 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0201 |
3 | 274 | 0.0109 | 12 | c.49+ others(27): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VSIG1_chrX_108040065_108084184 | 108047957 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0182 |
2 | 231 | 0.0087 | 12 | c.49+ others(27): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VSIG1_chrX_108040065_108084184 | 108047969 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 254 | 0.0039 | 12 | c.49+ others(27): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VSIG1_chrX_108040065_108084184 | 108047971 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 274 | 0.0036 | 12 | c.49+ others(27): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VSIG2_chr11_124742474_124757255 | 124743902 | G | GAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(96): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(28): Show |
99 | 321 | 0.3084 | 12 | c.*36 others(23): Show |
VSIG2 | ENSG00000019102.12 | transcript | ENST00000326621.10 | protein_coding | 3571 | chr11 | TogoVar |