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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SV2C_chr5_76078383_76338956 | 76182953 | GAGAGAC | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(192): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(145): Show | a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0039 others(192): Show |
195 | 234 | 0.8333 | -6 | c.581 others(25): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76211463 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(36): Show | a0001c0001t0001g0031 a0001c0001t0003g0096 a0001c0001t0003g0165 others(44): Show |
47 | 234 | 0.2009 | -6 | c.913 others(23): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76223444 | CATATAT | C | intron_variant | MODIFIER | HG02523.hp2 HG03486.hp2 HG03540.hp2 others(6): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0061 a0001c0001t0003g0171 a0001c0001t0008g0104 others(6): Show |
9 | 234 | 0.0385 | -6 | c.913 others(25): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76228788 | CATTAAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01243.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(45): Show | a0001c0001t0002g0094 a0001c0001t0002g0224 a0001c0001t0007g0122 others(46): Show |
49 | 234 | 0.2094 | -6 | c.913 others(25): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76257263 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp2 others(94): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0002g0023 others(94): Show |
97 | 234 | 0.4145 | -6 | c.914 others(25): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76338636 | ATTTTCT | A | downstream_gene_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG01891.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0009a0001c0001t0013a0001c0001t0025others(15): Show | a0001c0001t0009g0008 a0001c0001t0009g0190 a0001c0001t0013g0085 others(16): Show |
19 | 234 | 0.0812 | -6 | c.*13 others(19): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4681 | chr5 | TogoVar | |||||||
SVBP_chr1_42802052_42822397 | 42808134 | AGTGTGT | A | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0013 | a0001c0001t0002g0075 a0001c0001t0012g0151 a0001c0001t0012g0152 others(1): Show |
4 | 394 | 0.0102 | -6 | c.115 others(21): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SVBP_chr1_42802052_42822397 | 42810111 | CACACAT | C | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0186 a0001c0001t0002g0077 a0001c0001t0005g0141 others(4): Show |
11 | 394 | 0.0279 | -6 | c.115 others(23): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SVBP_chr1_42802052_42822397 | 42810115 | CATACAT | C | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023 a0001c0001t0007g0195 |
5 | 394 | 0.0127 | -6 | c.115 others(23): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SVBP_chr1_42802052_42822397 | 42810121 | TACATAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012 | a0001c0001t0001g0059 a0001c0001t0006g0148 a0001c0001t0012g0149 |
3 | 394 | 0.0076 | -6 | c.115 others(23): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SVBP_chr1_42802052_42822397 | 42819170 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(114): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(41): Show |
117 | 394 | 0.2970 | -6 | c.-20 others(17): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 1774 | chr1 | TogoVar | |||||||
SVBP_chr1_42802052_42822397 | 42819202 | TGTGTGC | T | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01934.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0045 a0001c0001t0008g0006 a0001c0001t0008g0131 |
4 | 394 | 0.0102 | -6 | c.-20 others(17): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 1806 | chr1 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110362502 | TTTACTG | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(53): Show |
a0001a0002a0004others(24): Show | a0001c0002a0001c0124a0002c0001others(31): Show | a0001c0002t0004a0001c0124t0004a0002c0001t0004others(32): Show | a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0209 others(52): Show |
56 | 362 | 0.1547 | -6 | c.*40 others(17): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 2745 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110375282 | TTCTGAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(62): Show |
a0001a0002a0004others(30): Show | a0001c0060a0001c0121a0002c0001others(34): Show | a0001c0060t0010a0001c0121t0009a0002c0001t0003others(35): Show | a0001c0060t0010g0003 a0001c0121t0009g0106 a0002c0001t0003g0237 others(62): Show |
65 | 362 | 0.1796 | -6 | c.106 others(23): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 46/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110378124 | AATCATC | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01081.hp2 others(27): Show |
a0001a0002a0004others(14): Show | a0001c0002a0001c0052a0001c0060others(18): Show | a0001c0002t0001a0001c0052t0001a0001c0060t0011others(18): Show | a0001c0002t0001g0033 a0001c0052t0001g0089 a0001c0052t0001g0121 others(27): Show |
30 | 362 | 0.0829 | -6 | c.104 others(25): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 44/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110433364 | CAAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01978.hp2 HG02004.hp1 others(5): Show |
a0010a0018a0078 | a0010c0007a0018c0017a0018c0062others(1): Show | a0010c0007t0001a0018c0017t0001a0018c0062t0001others(1): Show | a0010c0007t0001g0066 a0010c0007t0001g0290 a0010c0007t0001g0353 others(5): Show |
8 | 362 | 0.0221 | -6 | c.506 others(23): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 30/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110511488 | CTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01070.hp2 others(34): Show |
a0007a0010a0017others(17): Show | a0007c0019a0010c0007a0010c0039others(21): Show | a0007c0019t0004a0010c0007t0001a0010c0007t0002others(22): Show | a0007c0019t0004g0105 a0010c0007t0001g0066 a0010c0007t0001g0290 others(34): Show |
37 | 362 | 0.1022 | -6 | c.130 others(25): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 5/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110517998 | ATTATCT | A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
a0001a0013a0066others(3): Show | a0001c0164a0013c0014a0066c0132others(3): Show | a0001c0164t0006a0013c0014t0004a0066c0132t0003others(3): Show | a0001c0164t0006g0006 a0013c0014t0004g0099 a0013c0014t0004g0102 others(5): Show |
8 | 362 | 0.0221 | -6 | c.965 others(23): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 3/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110528131 | CGTGTGT | C | intron_variant | MODIFIER | HG02132.hp1 HG02735.hp2 HG03654.hp1 others(5): Show |
a0015a0019a0034others(3): Show | a0015c0012a0019c0015a0034c0043others(3): Show | a0015c0012t0003a0019c0015t0003a0034c0043t0001others(4): Show | a0015c0012t0003g0318 a0019c0015t0003g0178 a0034c0043t0001g0191 others(5): Show |
8 | 362 | 0.0221 | -6 | c.965 others(25): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 3/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110570970 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00609.hp2 others(65): Show |
a0001a0002a0003others(30): Show | a0001c0002a0002c0001a0002c0142others(37): Show | a0001c0002t0001a0001c0002t0002a0002c0001t0001others(43): Show | a0001c0002t0001g0117 a0001c0002t0002g0287 a0002c0001t0001g0170 others(65): Show |
68 | 362 | 0.1879 | -6 | c.531 others(23): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110572789 | CAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01433.hp2 HG01496.hp2 others(9): Show |
a0002a0003a0012others(8): Show | a0002c0001a0003c0127a0012c0025others(8): Show | a0002c0001t0001a0003c0127t0001a0012c0025t0004others(8): Show | a0002c0001t0001g0183 a0003c0127t0001g0248 a0012c0025t0004g0130 others(9): Show |
12 | 362 | 0.0332 | -6 | c.531 others(23): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29490585 | TAAAAAA | T | intron_variant | MODIFIER | HG01106.hp1 HG01981.hp1 HG02055.hp2 others(4): Show |
a0012a0016a0045 | a0012c0020a0016c0025a0016c0068others(1): Show | a0012c0020t0005a0016c0025t0005a0016c0068t0005others(1): Show | a0012c0020t0005g0017 a0012c0020t0005g0160 a0012c0020t0005g0230 others(4): Show |
7 | 290 | 0.0241 | -6 | c.419 others(23): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 22/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29509319 | AGGAGGG | A | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01169.hp1 others(5): Show |
a0005a0011 | a0005c0003a0005c0078a0005c0091others(1): Show | a0005c0003t0002a0005c0078t0002a0005c0091t0007others(1): Show | a0005c0003t0002g0038 a0005c0003t0002g0046 a0005c0003t0002g0085 others(5): Show |
8 | 290 | 0.0276 | -6 | c.351 others(25): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 17/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29509330 | GGAGAGA | G | intron_variant | MODIFIER | HG00609.hp1 HG01257.hp2 HG01358.hp1 others(8): Show |
a0001a0004a0006others(4): Show | a0001c0021a0001c0117a0004c0029others(7): Show | a0001c0021t0003a0001c0117t0002a0004c0029t0009others(7): Show | a0001c0021t0003g0011 a0001c0117t0002g0092 a0004c0029t0009g0158 others(8): Show |
11 | 290 | 0.0379 | -6 | c.351 others(25): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 17/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29552124 | CAAAACA | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
a0002a0004a0007others(14): Show | a0002c0001a0002c0018a0002c0043others(41): Show | a0002c0001t0002a0002c0018t0002a0002c0043t0001others(43): Show | a0002c0001t0002g0048 a0002c0001t0002g0062 a0002c0001t0002g0063 others(90): Show |
93 | 290 | 0.3207 | -6 | c.161 others(21): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 5/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29555339 | CACACAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(49): Show |
a0001a0003a0004others(7): Show | a0001c0004a0001c0032a0001c0034others(19): Show | a0001c0004t0001a0001c0032t0002a0001c0034t0003others(19): Show | a0001c0004t0001g0031 a0001c0004t0001g0033 a0001c0004t0001g0036 others(49): Show |
52 | 290 | 0.1793 | -6 | c.-50 others(21): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29555340 | ACACATG | A | intron_variant | MODIFIER | HG01255.hp2 HG01433.hp1 HG02145.hp1 others(12): Show |
a0002a0004a0010others(6): Show | a0002c0001a0002c0071a0004c0056others(9): Show | a0002c0001t0002a0002c0071t0002a0004c0056t0001others(9): Show | a0002c0001t0002g0155 a0002c0071t0002g0176 a0004c0056t0001g0147 others(12): Show |
15 | 290 | 0.0517 | -6 | c.-50 others(21): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29562763 | AAAAAAG | A | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02055.hp2 others(6): Show |
a0001a0012a0031 | a0001c0008a0012c0020a0031c0121 | a0001c0008t0003a0012c0020t0005a0031c0121t0003 | a0001c0008t0003g0016 a0001c0008t0003g0186 a0001c0008t0003g0222 others(6): Show |
9 | 290 | 0.0310 | -6 | c.-51 others(21): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29562769 | GAAAAAA | G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(20): Show |
a0001a0003a0004others(5): Show | a0001c0004a0001c0090a0003c0079others(7): Show | a0001c0004t0001a0001c0090t0001a0003c0079t0002others(7): Show | a0001c0004t0001g0031 a0001c0004t0001g0033 a0001c0004t0001g0036 others(20): Show |
23 | 290 | 0.0793 | -6 | c.-51 others(21): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29582731 | CTAATAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(25): Show |
a0001a0002a0003others(10): Show | a0001c0004a0001c0032a0001c0034others(16): Show | a0001c0004t0001a0001c0032t0002a0001c0034t0003others(17): Show | a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0040 others(25): Show |
28 | 290 | 0.0966 | -6 | c.-20 others(27): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138614392 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0062 others(64): Show |
67 | 360 | 0.1861 | -6 | c.135 others(25): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138615864 | CAAAAAT | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(118): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0039 others(118): Show |
121 | 360 | 0.3361 | -6 | c.135 others(25): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138619561 | TAAAAAA | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01175.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0227 a0002c0003t0001g0029 a0002c0003t0002g0110 others(4): Show |
7 | 360 | 0.0194 | -6 | c.135 others(25): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138637441 | TAGATAG | T | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp2 HG01361.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0151 a0001c0001t0001g0318 a0001c0001t0001g0330 others(3): Show |
6 | 360 | 0.0167 | -6 | c.789 others(23): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138644197 | CAAAAAA | C | intron_variant | MODIFIER | HG02155.hp2 HG02615.hp2 HG02683.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0008t0002 | a0001c0001t0001g0151 a0001c0001t0001g0318 a0001c0001t0001g0325 others(3): Show |
6 | 360 | 0.0167 | -6 | c.789 others(21): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138674200 | TACACAC | T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02451.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0002others(4): Show | a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0010g0298 others(8): Show |
11 | 360 | 0.0306 | -6 | c.175 others(23): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108943821 | GCTCCTC | G | intron_variant | MODIFIER | HG03139.hp2 HG03516.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0029a0001c0001t0066 | a0001c0001t0012g0239 a0001c0001t0012g0240 a0001c0001t0012g0241 others(2): Show |
5 | 288 | 0.0174 | -6 | c.642 others(23): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 7/15 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108946690 | TTTATTA | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0108 others(8): Show |
11 | 288 | 0.0382 | -6 | c.579 others(23): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 6/15 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108968744 | TTGTGTG | T | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00733.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(34): Show | a0001c0001t0001g0172 a0001c0001t0005g0072 a0001c0001t0005g0106 others(70): Show |
74 | 288 | 0.2569 | -6 | c.453 others(23): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108985356 | TAAAAGG | T | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01361.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0010others(1): Show | a0001c0002t0001g0284 a0001c0002t0005g0189 a0001c0002t0010g0190 others(1): Show |
4 | 288 | 0.0139 | -6 | c.36- others(21): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9672195 | CTATATA | C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02970.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0011a0002c0001t0001 | a0001c0002t0011g0093 a0001c0002t0011g0095 a0002c0001t0001g0096 |
3 | 294 | 0.0102 | -6 | c.99+ others(21): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9675320 | CGAGAGA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00733.hp1 others(17): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004others(1): Show | a0001c0002t0002a0002c0001t0001a0002c0001t0022others(2): Show | a0001c0002t0002g0017 a0001c0002t0002g0018 a0002c0001t0001g0267 others(17): Show |
20 | 294 | 0.0680 | -6 | c.99+ others(23): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9675340 | AGGGAGC | A | intron_variant | MODIFIER | HG02257.hp1 HG03516.hp2 NA19043.hp2 others(4): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0002c0004others(1): Show | a0001c0003t0010a0002c0001t0001a0002c0001t0008others(3): Show | a0001c0003t0010g0263 a0002c0001t0001g0039 a0002c0001t0001g0046 others(4): Show |
7 | 294 | 0.0238 | -6 | c.99+ others(23): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9675346 | CGAGAGA | C | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG02080.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0003t0003a0001c0003t0004others(1): Show | a0001c0002t0002g0018 a0001c0003t0003g0011 a0001c0003t0003g0201 others(10): Show |
13 | 294 | 0.0442 | -6 | c.99+ others(23): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9699866 | GTATATA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(68): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0007others(5): Show | a0001c0002t0002a0001c0002t0011a0001c0003t0027others(15): Show | a0001c0002t0002g0259 a0001c0002t0011g0092 a0001c0002t0011g0093 others(68): Show |
71 | 294 | 0.2415 | -6 | c.240 others(23): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725530 | AATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG01099.hp2 others(17): Show |
a0001a0002 | a0001c0002a0002c0004a0002c0009 | a0001c0002t0002a0001c0002t0030a0002c0004t0001others(1): Show | a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0117 others(17): Show |
20 | 294 | 0.0680 | -6 | c.642 others(21): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725565 | ATATATT | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01169.hp1 others(11): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0001 | a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0131 others(11): Show |
14 | 294 | 0.0476 | -6 | c.642 others(21): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9730554 | ACTTATT | A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02280.hp1 others(5): Show |
a0002 | a0002c0001a0002c0004 | a0002c0001t0005a0002c0004t0005 | a0002c0001t0005g0085 a0002c0001t0005g0086 a0002c0001t0005g0087 others(5): Show |
8 | 294 | 0.0272 | -6 | c.898 others(23): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01981.hp1 HG02027.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(5): Show |
9 | 386 | 0.0233 | -6 | c.*32 others(17): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SWT1_chr1_185152167_185296781 | 185208968 | CACTGTT | C | intron_variant | MODIFIER | HG00438.hp1 HG02071.hp2 HG02074.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(17): Show |
20 | 326 | 0.0614 | -6 | c.197 others(25): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |