regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK2B_chr7_44212154_44330594 | 44227678 | GTGGGGGA others(90): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG03139.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0002 | a0001c0001t0002g0116a0001c0001t0003g0185a0001c0003t0002g0035others(1): Show | 4 | 242 | 0.0165 | -97 | c.146 others(116): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004585 | AGGAGTTA others(90): Show |
A | intron_variant | MODIFIER | NA19058.hp2 NA19060.hp2 NA19077.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0071a0001c0003t0002g0072a0001c0003t0002g0073others(1): Show | 4 | 394 | 0.0102 | -97 | c.-14 others(116): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61944664 | TTCTCACT others(90): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02723.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0006a0001c0013a0001c0020 | a0001c0006t0006a0001c0006t0029a0001c0013t0006others(1): Show | a0001c0006t0006g0029a0001c0006t0029g0035a0001c0013t0006g0036others(1): Show | 4 | 106 | 0.0377 | -97 | c.*77 others(108): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4048 | chr20 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65782021 | TCTTTCTC others(90): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0026 | 1 | 208 | 0.0048 | -97 | c.210 others(116): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47541697 | AGAAAGAA others(90): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00735.hp1 others(27): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0012a0001c0001t0017others(3): Show | a0001c0001t0002g0024a0001c0001t0002g0228a0001c0001t0002g0229others(27): Show | 30 | 340 | 0.0882 | -97 | c.-15 others(118): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133071436 | CCCCCCCC others(90): Show |
C | frameshift_variant | HIGH | HG00733.hp2 HG01517.hp2 |
a0026 | a0026c0039 | a0026c0039t0001 | a0026c0039t0001g0002 | 2 | 416 | 0.0048 | -97 | c.194 others(106): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CENPE_chr4_103100811_103203343 | 103139050 | TTCTTCCC others(90): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(50): Show |
a0003a0008 | a0003c0003a0003c0029a0008c0009 | a0003c0003t0001a0003c0029t0001a0008c0009t0001 | a0003c0003t0001g0002a0003c0003t0001g0066a0003c0003t0001g0100others(48): Show | 53 | 320 | 0.1656 | -97 | c.620 others(114): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 38/48 | chr4 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239802050 | CTTAGTTC others(90): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0029 | a0001c0001t0021g0019a0001c0001t0029g0090 | 2 | 116 | 0.0172 | -97 | c.-14 others(118): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLN8_chr8_1758789_1791570 | 1763547 | GCCGCGCC others(90): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0002a0001c0001t0030g0002 | 2 | 413 | 0.0048 | -97 | c.-46 others(106): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 241 | chr8 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 41056991 | ATATTATA others(90): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0007a0001c0003t0016a0001c0004t0007 | a0001c0001t0007g0002a0001c0003t0016g0226a0001c0004t0007g0003others(1): Show | 4 | 230 | 0.0174 | -97 | c.298 others(118): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101489659 | TTCTTCCT others(90): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0095 | 1 | 174 | 0.0058 | -97 | c.385 others(116): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923299 | CATTAGGA others(90): Show |
C | intron_variant | MODIFIER | NA18965.hp2 | a0048 | a0048c0066 | a0048c0066t0002 | a0048c0066t0002g0269 | 1 | 350 | 0.0029 | -97 | c.488 others(112): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240985562 | CACTGCAC others(90): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01175.hp2 others(14): Show |
a0001a0007a0009 | a0001c0001a0001c0067a0001c0089others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0067t0002others(4): Show | a0001c0001t0001g0084a0001c0001t0002g0273a0001c0001t0002g0274others(14): Show | 17 | 350 | 0.0486 | -97 | c.455 others(116): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | chr2 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67301966 | AAGAAAGA others(90): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0019 | 1 | 46 | 0.0217 | -97 | c.580 others(116): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | ||||||
CYP27C1_chr2_127178832_127225299 | 127204458 | AAGAAAGA others(90): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0179 | 1 | 352 | 0.0028 | -97 | c.474 others(112): Show |
CYP27C1 | ENSG00000186684.14 | transcript | ENST00000664447.2 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
DCAKD_chr17_45018344_45056632 | 45051796 | CGGGGCCG others(90): Show |
C | upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 408 | 0.0025 | -97 | c.-64 others(106): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 165 | chr17 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2227781 | AAGGGAGG others(90): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02630.hp1 |
a0002a0005 | a0002c0005a0005c0008 | a0002c0005t0004a0002c0005t0008a0005c0008t0006 | a0002c0005t0004g0004a0002c0005t0008g0010a0005c0008t0006g0001 | 3 | 50 | 0.0600 | -97 | c.805 others(114): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | ||||||
DHX9_chr1_182834347_182892982 | 182891529 | GGACTCCT others(90): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 276 | 0.0036 | -97 | c.*40 others(108): Show |
DHX9 | ENSG00000135829.17 | transcript | ENST00000367549.4 | protein_coding | 3548 | chr1 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60038307 | ATTAGCAA others(90): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 208 | 0.0048 | -97 | c.626 others(114): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 5/27 | chr13 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 322610 | GGGGCTCC others(90): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0040 | 1 | 88 | 0.0114 | -97 | c.392 others(116): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 322953 | GGGGCTCC others(90): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -97 | c.392 others(116): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1014208 | GCGCCTCC others(90): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | -97 | c.73+ others(116): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DNAJC12_chr10_67791669_67843188 | 67840433 | AGGAGGTG others(90): Show |
A | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 384 | 0.0026 | -97 | c.-25 others(108): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2246 | chr10 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 115664839 | AGCTTTTG others(90): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0005 | a0005c0007 | a0005c0007t0011 | a0005c0007t0011g0052 | 1 | 56 | 0.0179 | -97 | c.442 others(116): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 5/25 | chr2 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158878884 | ACCATGTG others(90): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0006 | a0006c0006 | a0006c0006t0008 | a0006c0006t0008g0187 | 1 | 274 | 0.0037 | -97 | c.574 others(112): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158919954 | AGAACACG others(90): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0241 | 1 | 274 | 0.0037 | -97 | c.192 others(116): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
E4F1_chr16_2218591_2240742 | 2232797 | CGGGAGTC others(90): Show |
C | frameshift_variant | HIGH | HG03225.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0003 | 1 | 392 | 0.0026 | -97 | c.775 others(104): Show |
p.Glu others(5): Show |
E4F1 | ENSG00000167967.16 | transcript | ENST00000301727.9 | protein_coding | 6/14 | 798/2548 | 775/2355 | 259/784 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
EDIL3_chr5_83935554_84389880 | 84312166 | CGGGCAGC others(90): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151 | 1 | 158 | 0.0063 | -97 | c.68- others(114): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 20981520 | CATACATA others(90): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01074.hp2 others(47): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0208a0001c0001t0001g0210a0001c0001t0001g0215others(47): Show | 50 | 312 | 0.1603 | -97 | c.199 others(112): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 20981665 | GCACATAC others(90): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03486.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0020a0001c0001t0001g0214a0001c0001t0005g0295 | 3 | 312 | 0.0096 | -97 | c.199 others(112): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | ||||||
ENSA_chr1_150617125_150634612 | 150620458 | CCAAACAT others(90): Show |
C | downstream_gene_variant | MODIFIER | NA19060.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 2 | 422 | 0.0047 | -97 | c.*22 others(108): Show |
ENSA | ENSG00000143420.19 | transcript | ENST00000369014.10 | protein_coding | 1666 | chr1 | TogoVar | ||||||
EPHA8_chr1_22558489_22608595 | 22599637 | GGGAGGGA others(90): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00738.hp2 others(42): Show |
a0001a0005a0015others(2): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0004others(12): Show | a0001c0001t0009g0257a0001c0002t0002g0149a0001c0002t0002g0150others(41): Show | 45 | 342 | 0.1316 | -97 | c.238 others(114): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ESPNL_chr2_238095340_238138287 | 238118506 | GGAGGGTG others(90): Show |
G | intron_variant | MODIFIER | HG00558.hp2 NA18949.hp1 |
a0001a0034 | a0001c0018a0034c0099 | a0001c0018t0003a0034c0099t0003 | a0001c0018t0003g0233a0034c0099t0003g0265 | 2 | 408 | 0.0049 | -97 | c.987 others(114): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EXD1_chr15_41177728_41235757 | 41206175 | ACAGGAAA others(90): Show |
A | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 318 | 0.0031 | -97 | c.534 others(114): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 7/11 | chr15 | TogoVar | ||||||
FABP1_chr2_88117982_88133062 | 88130326 | GGAGAGAG others(90): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(11): Show | 65 | 468 | 0.1389 | -97 | c.-24 others(108): Show |
FABP1 | ENSG00000163586.10 | transcript | ENST00000295834.8 | protein_coding | 2265 | chr2 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49549917 | CCCCCCCA others(90): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 294 | 0.0034 | -97 | c.748 others(114): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 9/15 | chr15 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132556657 | TCCAACCC others(90): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02145.hp2 others(6): Show |
a0000a0001a0002others(1): Show | a0000c0030a0000c0080a0001c0011others(4): Show | a0000c0030t0019a0000c0080t0045a0001c0011t0019others(4): Show | a0000c0030t0019g0145a0000c0030t0019g0147a0000c0080t0045g0073others(6): Show | 9 | 348 | 0.0259 | -97 | c.645 others(114): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FBXW8_chr12_116905950_117036148 | 117026181 | GTCAGTCC others(90): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01256.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0277a0002c0002t0001g0139a0002c0002t0002g0138others(17): Show | 21 | 290 | 0.0724 | -97 | c.154 others(115): Show |
FBXW8 | ENSG00000174989.13 | transcript | ENST00000652555.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FBXW8_chr12_116905950_117036148 | 117026322 | CCCCGGGT others(90): Show |
C | intron_variant | MODIFIER | HG01891.hp2 NA20129.hp1 |
a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0011a0003c0003t0011g0012 | 2 | 290 | 0.0069 | -97 | c.154 others(115): Show |
FBXW8 | ENSG00000174989.13 | transcript | ENST00000652555.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FLNC_chr7_128825406_128864272 | 128863209 | CCGTTTGG others(90): Show |
C | downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0049 | a0001c0049t0003 | a0001c0049t0003g0115 | 1 | 384 | 0.0026 | -97 | c.*46 others(108): Show |
FLNC | ENSG00000128591.16 | transcript | ENST00000325888.13 | protein_coding | 3938 | chr7 | TogoVar | ||||||
FMNL2_chr2_152330174_152654826 | 152489150 | AGAAGAGT others(90): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0152 | 1 | 200 | 0.0050 | -97 | c.118 others(116): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAA_chr17_80096581_80124881 | 80120285 | CTCCCTTC others(90): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG03540.hp2 |
a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0032 | 3 | 416 | 0.0072 | -97 | c.*95 others(107): Show |
GAA | ENSG00000171298.14 | transcript | ENST00000302262.8 | protein_coding | 405 | chr17 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292363 | TATATATA others(90): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0002t0001a0001c0005t0011others(2): Show | a0001c0001t0003g0288a0001c0002t0001g0038a0001c0005t0011g0309others(2): Show | 5 | 366 | 0.0137 | -97 | c.220 others(114): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806198 | CCTCAGCC others(90): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0141 | 1 | 314 | 0.0032 | -97 | c.*20 others(108): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1912 | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154298584 | TAATTTAT others(90): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0094 | 1 | 214 | 0.0047 | -97 | c.976 others(114): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132231106 | GCCCCTAC others(90): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0146 | 1 | 183 | 0.0055 | -97 | c.107 others(118): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605069 | ATATAATA others(90): Show |
A | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0305 | 1 | 426 | 0.0024 | -97 | c.-42 others(116): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GK_chrX_30648423_30736462 | 30733683 | AGAAATTA others(90): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0004t0017 | a0001c0001t0012g0110a0001c0001t0012g0164a0001c0004t0017g0111 | 3 | 286 | 0.0105 | -97 | c.*49 others(108): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 2222 | chrX | TogoVar | ||||||
GLUD1_chr10_87045202_87099843 | 87080960 | AGAGGGAG others(90): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00639.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0019others(31): Show | 39 | 334 | 0.1168 | -97 | c.446 others(114): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16265584 | TCCAATCA others(90): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0238a0001c0001t0003g0237 | 2 | 344 | 0.0058 | -97 | c.466 others(114): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |