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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS53_chr17_503668_719839 | 602009 | TAAA | T | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG01884.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032a0001c0001t0034others(8): Show | a0001c0001t0031g0196 a0001c0001t0031g0197 a0001c0001t0032g0150 others(11): Show |
14 | 190 | 0.0737 | -3 | c.111 others(20): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 606787 | CCTT | C | intron_variant | MODIFIER | HG03831.hp2 NA18994.hp1 NA19080.hp1 |
a0003 | a0003c0004 | a0003c0004t0051a0003c0004t0059a0003c0004t0063 | a0003c0004t0051g0017 a0003c0004t0059g0020 a0003c0004t0063g0039 |
3 | 230 | 0.0130 | -3 | c.111 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 612392 | ACAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(46): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0016others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(28): Show | a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 others(46): Show |
49 | 230 | 0.2130 | -3 | c.111 others(24): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 646771 | CACT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(49): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0016others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(31): Show | a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 others(49): Show |
52 | 230 | 0.2261 | -3 | c.608 others(20): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 656744 | CATT | C | intron_variant | MODIFIER | HG01074.hp2 HG02135.hp2 HG02602.hp1 others(12): Show |
a0001 | a0001c0002a0001c0005a0001c0011 | a0001c0002t0001a0001c0002t0068a0001c0002t0074others(11): Show | a0001c0002t0001g0094 a0001c0002t0068g0093 a0001c0002t0074g0095 others(12): Show |
15 | 230 | 0.0652 | -3 | c.373 others(18): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 5/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 714044 | CAAA | C | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG02074.hp1 others(36): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0011a0001c0001t0070a0001c0002t0075others(20): Show | a0001c0001t0011g0013 a0001c0001t0070g0012 a0001c0002t0075g0041 others(36): Show |
39 | 186 | 0.2097 | -3 | c.87+ others(16): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 715947 | AAAG | A | upstream_gene_variant | MODIFIER | HG01361.hp2 HG01496.hp2 HG02074.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0004 | a0001c0001t0011a0001c0001t0070a0001c0007t0012others(11): Show | a0001c0001t0011g0013 a0001c0001t0070g0012 a0001c0007t0012g0107 others(23): Show |
26 | 230 | 0.1130 | -3 | c.-12 others(14): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 1109 | chr17 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63892948 | AAAT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG02572.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0098 a0001c0001t0007g0159 a0001c0001t0007g0168 |
3 | 302 | 0.0099 | -3 | c.*47 others(12): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 23/23 | 479 | chr2 | TogoVar | ||||||
VPS54_chr2_63887150_64024428 | 63909413 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(83): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(83): Show |
86 | 161 | 0.5342 | -3 | c.262 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 20/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63929779 | TAAG | T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 others(40): Show |
43 | 302 | 0.1424 | -3 | c.173 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 12/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63933182 | TAAG | T | intron_variant | MODIFIER | HG01346.hp2 HG03239.hp2 HG03831.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 others(1): Show |
4 | 302 | 0.0132 | -3 | c.173 others(20): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 12/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63936354 | CATA | C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp2 others(37): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(37): Show |
40 | 302 | 0.1325 | -3 | c.139 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 11/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63948260 | AGTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 others(40): Show |
43 | 302 | 0.1424 | -3 | c.113 others(20): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 8/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63949662 | TGAG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(76): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(76): Show |
79 | 302 | 0.2616 | -3 | c.101 others(20): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63953054 | GTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(36): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 others(36): Show |
39 | 301 | 0.1296 | -3 | c.101 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63970243 | ATAT | A | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG03041.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0052 |
3 | 302 | 0.0099 | -3 | c.458 others(20): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63970244 | TATA | T | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0002g0044 a0001c0001t0002g0045 others(9): Show |
12 | 132 | 0.0909 | -3 | c.458 others(20): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 4/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 64005089 | CTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01123.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0003t0001a0003c0005t0001others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(27): Show |
30 | 55 | 0.5455 | -3 | c.-21 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184811500 | CTAT | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01256.hp1 HG01361.hp2 others(15): Show |
a0002a0003a0004 | a0002c0002a0003c0004a0003c0012others(2): Show | a0002c0002t0005a0003c0004t0005a0003c0012t0001others(2): Show | a0002c0002t0005g0028 a0003c0004t0005g0005 a0003c0004t0005g0006 others(15): Show |
18 | 272 | 0.0662 | -3 | c.-81 others(12): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 665 | chr3 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184921569 | TTTC | T | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02976.hp1 |
a0003a0004 | a0003c0015a0004c0003 | a0003c0015t0001a0004c0003t0003 | a0003c0015t0001g0069 a0003c0015t0001g0071 a0004c0003t0003g0070 |
3 | 272 | 0.0110 | -3 | c.245 others(22): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 29/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184952256 | GATA | G | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02647.hp2 others(1): Show |
a0003a0014a0015 | a0003c0005a0014c0035a0015c0040 | a0003c0005t0001a0014c0035t0001a0015c0040t0001 | a0003c0005t0001g0057 a0003c0005t0001g0058 a0014c0035t0001g0056 others(1): Show |
4 | 272 | 0.0147 | -3 | c.303 others(22): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 36/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184969426 | CCCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(90): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0010a0001c0023others(8): Show | a0001c0001t0002a0001c0010t0002a0001c0023t0002others(10): Show | a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 others(90): Show |
93 | 242 | 0.3843 | -3 | c.331 others(22): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 39/47 | chr3 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 185004533 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0010a0001c0023others(29): Show | a0001c0001t0002a0001c0010t0002a0001c0023t0002others(37): Show | a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0080 others(231): Show |
234 | 272 | 0.8603 | -3 | c.400 others(22): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 185034609 | TTTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(33): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0022a0003c0009others(6): Show | a0001c0001t0002a0001c0022t0004a0003c0009t0001others(8): Show | a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0134 others(33): Show |
36 | 151 | 0.2384 | -3 | c.405 others(24): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS9D1_chr16_89702134_89725898 | 89712731 | AGCT | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00741.hp2 others(34): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0041 others(27): Show |
37 | 428 | 0.0864 | -3 | c.432 others(16): Show |
VPS9D1 | ENSG00000075399.14 | transcript | ENST00000389386.8 | protein_coding | 4/14 | chr16 | TogoVar | |||||||
VRK1_chr14_96792382_96886609 | 96794475 | TTTC | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00639.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0039 a0001c0002t0001g0034 a0001c0002t0001g0035 others(54): Show |
68 | 175 | 0.3886 | -3 | c.-29 others(14): Show |
VRK1 | ENSG00000100749.9 | transcript | ENST00000216639.8 | protein_coding | 2906 | chr14 | TogoVar | |||||||
VRK1_chr14_96792382_96886609 | 96816765 | TGAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01168.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0026 a0001c0002t0001g0027 others(5): Show |
9 | 276 | 0.0326 | -3 | c.-5- others(20): Show |
VRK1 | ENSG00000100749.9 | transcript | ENST00000216639.8 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
VRK1_chr14_96792382_96886609 | 96828155 | CTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(95): Show |
109 | 276 | 0.3949 | -3 | c.-5- others(18): Show |
VRK1 | ENSG00000100749.9 | transcript | ENST00000216639.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58136847 | TATC | T | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(1): Show |
4 | 338 | 0.0118 | -3 | c.856 others(20): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58140269 | TACA | T | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0012 others(4): Show |
7 | 338 | 0.0207 | -3 | c.102 others(20): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
VRK2_chr2_58041806_58164871 | 58149996 | CTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0012 others(4): Show |
7 | 106 | 0.0660 | -3 | c.118 others(22): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58150942 | CTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0142 a0001c0003t0001g0261 a0001c0003t0001g0263 others(6): Show |
9 | 337 | 0.0267 | -3 | c.118 others(22): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58151731 | GTTT | G | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01070.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0285 a0001c0001t0001g0298 others(13): Show |
16 | 41 | 0.3902 | -3 | c.118 others(22): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58156585 | TTTG | T | intron_variant | MODIFIER | HG01167.hp1 HG02258.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0143 a0001c0001t0001g0144 others(10): Show |
13 | 337 | 0.0386 | -3 | c.118 others(22): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK3_chr19_49971468_50030372 | 49980873 | AAGG | A | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01175.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0057 others(11): Show |
16 | 348 | 0.0460 | -3 | c.127 others(18): Show |
VRK3 | ENSG00000105053.11 | transcript | ENST00000316763.8 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
VRK3_chr19_49971468_50030372 | 49995347 | GAGA | G | intron_variant | MODIFIER | HG00642.hp1 HG01358.hp2 HG01496.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0032 others(5): Show |
9 | 348 | 0.0259 | -3 | c.680 others(16): Show |
VRK3 | ENSG00000105053.11 | transcript | ENST00000316763.8 | protein_coding | 7/14 | chr19 | TogoVar | |||||||
VRK3_chr19_49971468_50030372 | 50019674 | CTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0133 others(17): Show |
22 | 38 | 0.5789 | -3 | c.-2+ others(16): Show |
VRK3 | ENSG00000105053.11 | transcript | ENST00000316763.8 | protein_coding | 2/14 | chr19 | TogoVar | |||||||
VRTN_chr14_74343471_74365008 | 74345346 | ATTT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(140): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(46): Show |
143 | 340 | 0.4206 | -3 | c.-33 others(14): Show |
VRTN | ENSG00000133980.5 | transcript | ENST00000256362.5 | protein_coding | 3124 | chr14 | TogoVar | |||||||
VRTN_chr14_74343471_74365008 | 74363490 | ATTT | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00609.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(12): Show |
49 | 269 | 0.1822 | -3 | c.*45 others(14): Show |
VRTN | ENSG00000133980.5 | transcript | ENST00000256362.5 | protein_coding | 3483 | chr14 | TogoVar | |||||||
VSIG10L_chr19_51326541_51347139 | 51326740 | CCCT | C | downstream_gene_variant | MODIFIER | NA18954.hp2 NA18955.hp1 NA18979.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0002 a0001c0001t0002g0010 a0002c0002t0001g0001 |
5 | 450 | 0.0111 | -3 | c.*58 others(14): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 4800 | chr19 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118063519 | ATTT | A | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01256.hp1 others(2): Show |
a0001a0002a0003 | a0001c0025a0002c0003a0003c0005 | a0001c0025t0011a0002c0003t0001a0003c0005t0097 | a0001c0025t0011g0086 a0001c0025t0011g0088 a0002c0003t0001g0042 others(2): Show |
5 | 408 | 0.0123 | -3 | c.*31 others(14): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 73 | chr12 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118068522 | TTCC | T | disruptive_inframe_deletion | MODERATE | HG01099.hp2 HG01175.hp2 HG02965.hp1 others(2): Show |
a0006a0008 | a0006c0018a0008c0023 | a0006c0018t0002a0006c0018t0015a0008c0023t0032others(1): Show | a0006c0018t0002g0113 a0006c0018t0002g0186 a0006c0018t0015g0218 others(2): Show |
5 | 263 | 0.0190 | -3 | c.141 others(12): Show |
p.Glu others(6): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 8/9 | 1761/5009 | 1419/1623 | 473/540 | chr12 | TogoVar | |||
VSIG10_chr12_118058593_118109011 | 118069746 | GGAA | G | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02486.hp2 others(6): Show |
a0002a0015 | a0002c0001a0002c0003a0002c0041others(1): Show | a0002c0001t0007a0002c0001t0026a0002c0001t0077others(3): Show | a0002c0001t0007g0248 a0002c0001t0026g0236 a0002c0001t0077g0209 others(5): Show |
9 | 410 | 0.0220 | -3 | c.134 others(22): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 7/8 | chr12 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118078937 | TAAA | T | intron_variant | MODIFIER | HG01515.hp2 HG02257.hp2 HG02280.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0002c0003others(1): Show | a0001c0002t0003a0001c0002t0013a0001c0002t0038others(4): Show | a0001c0002t0003g0155 a0001c0002t0013g0047 a0001c0002t0038g0398 others(4): Show |
7 | 227 | 0.0308 | -3 | c.925 others(18): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
VSIG10_chr12_118058593_118109011 | 118082017 | TAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp2 others(30): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0008a0002c0003others(8): Show | a0001c0002t0003a0001c0002t0013a0001c0002t0027others(17): Show | a0001c0002t0003g0033 a0001c0002t0003g0096 a0001c0002t0003g0337 others(29): Show |
33 | 176 | 0.1875 | -3 | c.664 others(18): Show |
VSIG10 | ENSG00000176834.14 | transcript | ENST00000359236.10 | protein_coding | 3/8 | chr12 | TogoVar | |||||||
VSIG1_chrX_108040065_108084184 | 108078942 | ACTT | A | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01109.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0047 others(19): Show |
24 | 279 | 0.0860 | -3 | c.*15 others(14): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 7/7 | 1569 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
VSIG2_chr11_124742474_124757255 | 124749870 | CAAA | C | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00597.hp1 HG00621.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0068 others(1): Show |
29 | 330 | 0.0879 | -3 | c.428 others(14): Show |
VSIG2 | ENSG00000019102.12 | transcript | ENST00000326621.10 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037011 | TATC | T | intron_variant | MODIFIER | HG03041.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | 215 | 0.0093 | -3 | c.55+ others(18): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037021 | TATA | T | intron_variant | MODIFIER | HG03041.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | 215 | 0.0093 | -3 | c.55+ others(18): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037264 | TATA | T | intron_variant | MODIFIER | NA19074.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 |
2 | 215 | 0.0093 | -3 | c.55+ others(18): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar |