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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLIS3_chr9_3819127_4305068 | 3976795 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01109.hp1 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(9): Show | a0001c0001t0001g0141 a0001c0001t0005g0132 a0001c0001t0005g0151 others(10): Show |
13 | 188 | 0.0692 | -7 | c.171 others(28): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3991683 | ATTTTTTT | A | intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02258.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0014a0001c0022others(2): Show | a0001c0001t0009a0001c0001t0023a0001c0014t0007others(5): Show | a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0023g0023 others(6): Show |
9 | 188 | 0.0479 | -7 | c.171 others(28): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4084288 | CACACACA | C | intron_variant | MODIFIER | HG01081.hp1 HG01928.hp2 HG02280.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0022a0002c0002others(1): Show | a0001c0001t0008a0001c0001t0019a0001c0001t0068others(3): Show | a0001c0001t0008g0104 a0001c0001t0019g0015 a0001c0001t0068g0098 others(3): Show |
6 | 188 | 0.0319 | -7 | c.171 others(28): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4132275 | GCCAAAAT | G | intron_variant | MODIFIER | HG02300.hp1 NA18941.hp1 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0028 | a0001c0001t0002g0160 a0001c0001t0003g0110 a0001c0001t0028g0125 |
3 | 188 | 0.0160 | -7 | c.389 others(24): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4234121 | TATCAGCA | T | intron_variant | MODIFIER | HG01243.hp1 HG01517.hp1 HG01891.hp1 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0004others(6): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0004g0081 a0001c0001t0005g0146 a0001c0001t0005g0173 others(21): Show |
24 | 188 | 0.1277 | -7 | c.388 others(26): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4296903 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp2 HG01517.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0007a0001c0001t0021a0001c0001t0039others(7): Show | a0001c0001t0007g0059 a0001c0001t0021g0057 a0001c0001t0039g0055 others(7): Show |
10 | 188 | 0.0532 | -7 | c.-99 others(24): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151849155 | TTCTTTTC | T | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0004t0001g0177 |
3 | 284 | 0.0106 | -7 | c.912 others(24): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14534244 | TTAAAGTC | T | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0200 | 1 | 232 | 0.0043 | -7 | c.202 others(24): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14557102 | CTTTTTTT | C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0175 | 1 | 232 | 0.0043 | -7 | c.203 others(26): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14560797 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00741.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0109 a0001c0001t0001g0110 others(18): Show |
21 | 232 | 0.0905 | -7 | c.203 others(26): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14724626 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG03195.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0024 | a0001c0002t0005g0214 a0001c0002t0024g0016 a0001c0002t0024g0017 |
3 | 232 | 0.0129 | -7 | c.108 others(26): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14730943 | CACACACA | C | 3_prime_UTR_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0028 | 1 | 232 | 0.0043 | -7 | c.*46 others(16): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 9/9 | 460 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLRA3_chr4_174631920_174834247 | 174699805 | TTAATTAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(214): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(100): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 others(213): Show |
217 | 296 | 0.7331 | -7 | c.574 others(26): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
GLRX3_chr10_130131391_130184672 | 130148433 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(28): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0002c0002t0001a0005c0007t0001 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0301 others(26): Show |
31 | 424 | 0.0731 | -7 | c.201 others(24): Show |
GLRX3 | ENSG00000108010.12 | transcript | ENST00000331244.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GLRX3_chr10_130131391_130184672 | 130157493 | GCCCCCCC | G | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0042 a0002c0002t0001g0004 a0002c0002t0001g0010 others(16): Show |
23 | 424 | 0.0543 | -7 | c.202 others(24): Show |
GLRX3 | ENSG00000108010.12 | transcript | ENST00000331244.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128883589 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG02056.hp1 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(2): Show | a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0233 others(5): Show |
8 | 320 | 0.0250 | -7 | c.218 others(24): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128946635 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00639.hp1 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(44): Show |
47 | 320 | 0.1469 | -7 | c.660 others(22): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128958748 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01192.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0170 others(21): Show |
24 | 320 | 0.0750 | -7 | c.879 others(24): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128973179 | GTTTTTTT | G | intron_variant | MODIFIER | HG00642.hp2 HG02145.hp1 HG02257.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0159 a0001c0001t0002g0060 others(14): Show |
17 | 320 | 0.0531 | -7 | c.880 others(24): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT6D1_chr9_135618648_135644540 | 135642851 | TAAAAAAA | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0002others(7): Show | a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0003g0252 others(14): Show |
25 | 436 | 0.0573 | -7 | c.-35 others(18): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3312 | chr9 | TogoVar | |||||||
GLT8D1_chr3_52689486_52710791 | 52709700 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01346.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0012 a0001c0001t0008g0036 |
6 | 394 | 0.0152 | -7 | c.-42 others(18): Show |
GLT8D1 | ENSG00000016864.19 | transcript | ENST00000266014.11 | protein_coding | 3910 | chr3 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 103987510 | GTTGATTT | G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02572.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0102 a0001c0001t0001g0103 others(14): Show |
17 | 416 | 0.0409 | -7 | c.*18 others(18): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1476 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104016768 | AAAGAAAG | A | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01070.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0343 others(2): Show |
5 | 416 | 0.0120 | -7 | c.20- others(22): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104016819 | GAGAAAGA | G | intron_variant | MODIFIER | HG01978.hp2 HG02071.hp1 HG02109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 others(14): Show |
17 | 416 | 0.0409 | -7 | c.20- others(22): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
GLT8D2_chr12_103983987_104055187 | 104032466 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(84): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 others(83): Show |
87 | 416 | 0.2091 | -7 | c.-16 others(28): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GLTP_chr12_109845945_109885541 | 109850281 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01099.hp2 HG01516.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0002g0211 a0001c0001t0003g0097 a0001c0001t0003g0100 others(9): Show |
13 | 322 | 0.0404 | -7 | c.*22 others(18): Show |
GLTP | ENSG00000139433.11 | transcript | ENST00000318348.9 | protein_coding | 663 | chr12 | TogoVar | |||||||
GLUL_chr1_182373098_182396790 | 182389018 | AGGCCCTT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0005 a0001c0001t0005g0011 a0001c0001t0016g0028 |
20 | 400 | 0.0500 | -7 | c.-13 others(22): Show |
GLUL | ENSG00000135821.19 | transcript | ENST00000331872.11 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
GLYATL1_chr11_58934488_58961406 | 58950113 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(93): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0007 | a0001c0001t0003a0001c0004t0003a0004c0007t0003 | a0001c0001t0003g0001 a0001c0001t0003g0009 a0001c0001t0003g0017 others(20): Show |
96 | 424 | 0.2264 | -7 | c.186 others(24): Show |
GLYATL1 | ENSG00000166840.14 | transcript | ENST00000532726.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLYATL3_chr6_49494923_49533078 | 49525560 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(74): Show |
a0002a0004a0007others(1): Show | a0002c0003a0002c0005a0004c0004others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0005t0001others(5): Show | a0002c0003t0001g0004 a0002c0003t0001g0015 a0002c0003t0001g0016 others(54): Show |
77 | 380 | 0.2026 | -7 | c.441 others(22): Show |
GLYATL3 | ENSG00000203972.10 | transcript | ENST00000371197.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GMCL1_chr2_69824660_69886384 | 69859144 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01243.hp1 others(16): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0005a0005c0008t0005 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0046 others(13): Show |
19 | 390 | 0.0487 | -7 | c.107 others(26): Show |
GMCL1 | ENSG00000087338.5 | transcript | ENST00000282570.4 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GMCL2_chr5_178179505_178192371 | 178180925 | GTTTTTGT | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(40): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0008others(4): Show | a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0008g0000 others(4): Show |
43 | 452 | 0.0951 | -7 | c.*47 others(18): Show |
GMCL2 | ENSG00000244234.3 | transcript | ENST00000463439.3 | protein_coding | 3579 | chr5 | TogoVar | |||||||
GMCL2_chr5_178179505_178192371 | 178181563 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(195): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(15): Show | a0001c0001t0001g0000 a0001c0001t0007g0000 a0001c0001t0018g0000 others(15): Show |
198 | 452 | 0.4381 | -7 | c.*41 others(18): Show |
GMCL2 | ENSG00000244234.3 | transcript | ENST00000463439.3 | protein_coding | 2941 | chr5 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1652402 | ATATATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0033 others(46): Show |
49 | 166 | 0.2952 | -7 | c.988 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1674556 | CTCTCTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0001g0084 others(4): Show |
7 | 166 | 0.0422 | -7 | c.988 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1914131 | GTTTTTTT | G | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG02965.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0052 others(11): Show |
14 | 166 | 0.0843 | -7 | c.771 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1944669 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00639.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0027 others(30): Show |
33 | 166 | 0.1988 | -7 | c.644 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1969261 | CAAAAAAA | C | intron_variant | MODIFIER | HG02258.hp2 HG02965.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0087 others(3): Show |
6 | 166 | 0.0361 | -7 | c.346 others(24): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2000006 | ATATTTTT | A | intron_variant | MODIFIER | HG03098.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0045 a0001c0002t0002g0044 |
2 | 166 | 0.0121 | -7 | c.346 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2025400 | GTGTGTGT | G | intron_variant | MODIFIER | NA19082.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0124 |
2 | 166 | 0.0121 | -7 | c.346 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2079019 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0063 others(11): Show |
14 | 166 | 0.0843 | -7 | c.345 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMNC_chr3_190847737_190867694 | 190861449 | GCCTATCA | G | intron_variant | MODIFIER | HG00673.hp2 HG02602.hp1 HG04204.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0050 others(5): Show |
14 | 488 | 0.0287 | -7 | c.4-5 others(18): Show |
GMNC | ENSG00000205835.9 | transcript | ENST00000442080.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
GMPPA_chr2_219493891_219511989 | 219499740 | TATTTGGG | T | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0051 others(1): Show |
6 | 382 | 0.0157 | -7 | c.-20 others(22): Show |
GMPPA | ENSG00000144591.20 | transcript | ENST00000313597.10 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
GMPR_chr6_16233587_16300549 | 16256351 | TAAAAAAA | T | intron_variant | MODIFIER | HG01952.hp1 NA18954.hp1 NA18954.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0027 others(7): Show |
10 | 344 | 0.0291 | -7 | c.465 others(24): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16289848 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0052 others(15): Show |
19 | 344 | 0.0552 | -7 | c.698 others(22): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GMPS_chr3_155865650_155949020 | 155879265 | CTTTTTTT | C | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02886.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0238 others(6): Show |
12 | 380 | 0.0316 | -7 | c.27+ others(22): Show |
GMPS | ENSG00000163655.16 | transcript | ENST00000496455.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3100120 | CCTGGGAT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(67): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(9): Show | a0001c0001t0001g0100 a0001c0001t0003g0091 a0001c0002t0002g0004 others(51): Show |
70 | 425 | 0.1647 | -7 | c.136 others(24): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3103519 | CTTTTTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG01993.hp2 HG03516.hp2 others(7): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0005a0001c0001t0009a0001c0001t0016others(2): Show | a0001c0001t0005g0019 a0001c0001t0005g0281 a0001c0001t0005g0284 others(5): Show |
10 | 425 | 0.0235 | -7 | c.137 others(24): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2770643 | ATAACAAC | A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01069.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0029 | a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 others(22): Show |
25 | 322 | 0.0776 | -7 | c.525 others(26): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2825859 | TCCCACCA | T | intron_variant | MODIFIER | HG01192.hp2 HG02965.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017a0001c0001t0019 | a0001c0001t0007g0184 a0001c0001t0007g0269 a0001c0001t0007g0270 others(4): Show |
7 | 322 | 0.0217 | -7 | c.309 others(26): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77431023 | TTTGTGTG | T | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0093 a0001c0001t0005g0174 a0001c0001t0008g0176 others(6): Show |
9 | 240 | 0.0375 | -7 | c.593 others(22): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 4/6 | chr9 | TogoVar |