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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GFRA1_chr10_116051925_116278206 | 116196621 | TATATATA | T | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 HG02965.hp2 others(1): Show |
a0001a0002a0003 | a0001c0005a0002c0003a0003c0006 | a0001c0005t0133a0002c0003t0039a0002c0003t0092others(1): Show | a0001c0005t0133g0214a0002c0003t0039g0207a0002c0003t0092g0166others(1): Show | 4 | 214 | 0.0187 | -7 | c.433 others(26): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116198229 | TAACTTTC | T | intron_variant | MODIFIER | HG01175.hp2 HG01258.hp2 HG01346.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0063a0001c0001t0002g0163a0001c0001t0004g0076others(18): Show | 21 | 214 | 0.0981 | -7 | c.433 others(26): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21770729 | GGCCCAGT | G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02647.hp2 others(10): Show |
a0001a0004a0005 | a0001c0006a0004c0009a0004c0011others(4): Show | a0001c0006t0002a0004c0009t0005a0004c0009t0013others(8): Show | a0001c0006t0002g0028a0004c0009t0005g0200a0004c0009t0013g0190others(10): Show | 13 | 322 | 0.0404 | -7 | c.439 others(24): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21789029 | CGGCGCGG | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(226): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(83): Show | a0001c0001t0001g0003a0001c0001t0001g0039a0001c0001t0001g0061others(226): Show | 229 | 322 | 0.7112 | -7 | c.-87 others(16): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 155 | chr8 | TogoVar | ||||||
GFRAL_chr6_55322469_55407493 | 55355813 | AAGCTTTC | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02615.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0004c0004t0002a0004c0004t0005 | a0001c0001t0003g0352a0001c0001t0003g0353a0004c0004t0002g0351others(3): Show | 6 | 386 | 0.0155 | -7 | c.702 others(24): Show |
GFRAL | ENSG00000187871.2 | transcript | ENST00000340465.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GGACT_chr13_100525180_100593789 | 100531800 | ATATTTAT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(225): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(211): Show | 228 | 376 | 0.6064 | -7 | c.*32 others(16): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 3/3 | 323 | chr13 | TogoVar | |||||
GGNBP2_chr17_36539919_36594848 | 36548615 | CAAAAAAA | C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01081.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0222a0001c0001t0001g0223a0001c0001t0001g0224others(36): Show | 39 | 357 | 0.1092 | -7 | c.93+ others(22): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGNBP2_chr17_36539919_36594848 | 36575639 | TATATATA | T | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01123.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0071a0001c0002t0003g0188a0001c0002t0003g0291 | 3 | 357 | 0.0084 | -7 | c.642 others(24): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36576553 | CAAAAAAA | C | intron_variant | MODIFIER | HG01515.hp2 HG02257.hp1 HG02523.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0323a0001c0001t0002g0324a0001c0001t0002g0325others(5): Show | 8 | 357 | 0.0224 | -7 | c.642 others(24): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24605798 | ATGATGTG | A | intron_variant | MODIFIER | HG02155.hp1 NA18964.hp1 NA18974.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282a0001c0001t0002g0283a0001c0001t0002g0284others(1): Show | 4 | 426 | 0.0094 | -7 | c.-42 others(26): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24605828 | GATGTGTA | G | intron_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG02132.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0337a0002c0002t0002g0303a0002c0002t0002g0306others(3): Show | 6 | 426 | 0.0141 | -7 | c.-42 others(26): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605854 | ATGATGTG | A | intron_variant | MODIFIER | HG02155.hp1 HG02257.hp2 HG02683.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0016 | a0001c0001t0002g0282a0001c0001t0002g0283a0001c0001t0002g0284others(12): Show | 15 | 426 | 0.0352 | -7 | c.-42 others(26): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24611536 | TATCTATC | T | intron_variant | MODIFIER | HG00738.hp2 HG02145.hp1 HG02559.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0191a0001c0001t0001g0240a0001c0001t0005g0011others(8): Show | 11 | 426 | 0.0258 | -7 | c.164 others(22): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT5_chr22_24214660_24250082 | 24238899 | ATATATAT | A | intron_variant | MODIFIER | HG00438.hp2 HG03831.hp1 HG03834.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198a0001c0001t0001g0201a0001c0001t0001g0238others(15): Show | 18 | 420 | 0.0429 | -7 | c.174 others(24): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24238908 | ATATATAT | A | intron_variant | MODIFIER | HG00597.hp1 NA18747.hp1 NA18972.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0283a0002c0002t0001g0331a0002c0002t0001g0356others(1): Show | 4 | 420 | 0.0095 | -7 | c.174 others(24): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24238933 | TTATATAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(48): Show |
a0001a0016a0018 | a0001c0001a0001c0003a0016c0028others(1): Show | a0001c0001t0001a0001c0003t0001a0016c0028t0001others(1): Show | a0001c0001t0001g0198a0001c0001t0001g0200a0001c0001t0001g0201others(42): Show | 51 | 420 | 0.1214 | -7 | c.174 others(24): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GGT6_chr17_4551927_4565577 | 4556775 | CAGGAGGT | C | downstream_gene_variant | MODIFIER | HG01433.hp1 HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 3 | 458 | 0.0066 | -7 | c.*12 others(18): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 151 | chr17 | TogoVar | ||||||
GGT7_chr20_34839720_34877856 | 34860637 | CTTTTTTT | C | intron_variant | MODIFIER | HG02970.hp1 HG03098.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0002g0037a0001c0001t0002g0127others(1): Show | 6 | 354 | 0.0170 | -7 | c.676 others(22): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 4/14 | chr20 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121479670 | GACCAGCC | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(65): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0268others(62): Show | 68 | 338 | 0.2012 | -7 | c.-9- others(24): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
GH2_chr17_63875215_63886944 | 63882530 | GGAGGGGT | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0009others(2): Show | 49 | 426 | 0.1150 | -7 | c.-73 others(16): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 587 | chr17 | TogoVar | ||||||
GHITM_chr10_84134509_84158568 | 84148271 | GTTTTTAT | G | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG02083.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0063a0002c0002t0001g0011 | 21 | 450 | 0.0467 | -7 | c.484 others(22): Show |
GHITM | ENSG00000165678.22 | transcript | ENST00000372134.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42529999 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0003others(7): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0002c0002t0001g0012others(18): Show | 21 | 210 | 0.1000 | -7 | c.-11 others(26): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42562644 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0021a0001c0001t0004g0157a0001c0001t0004g0180others(19): Show | 22 | 210 | 0.1048 | -7 | c.-11 others(24): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42614559 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp2 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0002g0021a0001c0001t0004g0129a0001c0001t0004g0157others(91): Show | 94 | 210 | 0.4476 | -7 | c.71- others(24): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232724207 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(50): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0005a0001c0010others(4): Show | a0001c0002t0001a0001c0005t0001a0001c0005t0008others(9): Show | a0001c0002t0001g0196a0001c0005t0001g0194a0001c0005t0001g0195others(50): Show | 53 | 376 | 0.1410 | -7 | c.-43 others(26): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232813187 | CTTTTTTT | C | intron_variant | MODIFIER | HG00609.hp2 HG01256.hp1 HG01943.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0020 | a0001c0002t0001g0311a0001c0002t0001g0336a0001c0002t0001g0342others(5): Show | 8 | 376 | 0.0213 | -7 | c.210 others(24): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIMAP7_chr7_150509872_150526073 | 150518636 | GTTTGATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(95): Show |
a0001a0003 | a0001c0002a0001c0009a0003c0006 | a0001c0002t0001a0001c0009t0001a0003c0006t0001 | a0001c0002t0001g0001a0001c0002t0001g0024a0001c0002t0001g0025others(6): Show | 98 | 466 | 0.2103 | -7 | c.-41 others(24): Show |
GIMAP7 | ENSG00000179144.5 | transcript | ENST00000313543.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIN1_chr5_103081000_103125138 | 103086041 | GCAAAAGT | G | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0031a0001c0001t0008g0032 | 4 | 322 | 0.0124 | -7 | c.*18 others(18): Show |
GIN1 | ENSG00000145723.17 | transcript | ENST00000399004.7 | protein_coding | 8/8 | 1850 | chr5 | TogoVar | |||||
GINS1_chr20_25402673_25453563 | 25423452 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(100): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0337a0001c0001t0002g0006a0001c0001t0002g0007others(98): Show | 103 | 360 | 0.2861 | -7 | c.331 others(24): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS1_chr20_25402673_25453563 | 25428969 | CTTTTTTT | C | intron_variant | MODIFIER | HG01515.hp1 HG01975.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0006g0020a0001c0001t0006g0021a0001c0001t0008g0334others(3): Show | 6 | 360 | 0.0167 | -7 | c.447 others(24): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS1_chr20_25402673_25453563 | 25435810 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(261): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(243): Show | 264 | 360 | 0.7333 | -7 | c.448 others(24): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS1_chr20_25402673_25453563 | 25440810 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0168a0001c0001t0001g0171others(2): Show | 7 | 360 | 0.0194 | -7 | c.448 others(22): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS2_chr16_85671198_85693954 | 85672810 | ATTATTTC | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0015others(11): Show | a0001c0001t0003g0012a0001c0001t0003g0018a0001c0001t0003g0019others(59): Show | 77 | 470 | 0.1638 | -7 | c.*53 others(18): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 3387 | chr16 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85682021 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(23): Show | a0001c0001t0002g0200a0001c0001t0004g0291a0001c0001t0007g0050others(78): Show | 171 | 470 | 0.3638 | -7 | c.206 others(22): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
GINS3_chr16_58387471_58411147 | 58408440 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02486.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0014a0001c0001t0003g0029a0001c0001t0003g0051others(2): Show | 8 | 434 | 0.0184 | -7 | c.*37 others(18): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 2294 | chr16 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78100940 | ATACACAC | A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG03453.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0015 | a0001c0001t0002a0002c0002t0001a0002c0002t0011others(2): Show | a0001c0001t0002g0010a0001c0001t0002g0325a0002c0002t0001g0030others(5): Show | 8 | 332 | 0.0241 | -7 | c.607 others(24): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78142354 | ATGTGTGT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0123a0001c0001t0001g0195a0001c0001t0002g0168others(43): Show | 46 | 332 | 0.1386 | -7 | c.*66 others(18): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3911 | chr1 | TogoVar | ||||||
GIT2_chr12_109924804_110001368 | 109988848 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0061a0001c0001t0009g0064a0001c0001t0009g0065others(2): Show | 5 | 242 | 0.0207 | -7 | c.405 others(22): Show |
GIT2 | ENSG00000139436.22 | transcript | ENST00000355312.8 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
GJA3_chr13_20133255_20166052 | 20159456 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0059a0001c0001t0001g0094a0001c0001t0001g0096others(28): Show | 49 | 392 | 0.1250 | -7 | c.-18 others(24): Show |
GJA3 | ENSG00000121743.4 | transcript | ENST00000241125.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
GJC1_chr17_44793448_44835287 | 44821697 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01167.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0001g0226a0001c0001t0001g0230a0001c0001t0001g0236others(17): Show | 20 | 380 | 0.0526 | -7 | c.-97 others(24): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746236 | AAAAATAT | A | downstream_gene_variant | MODIFIER | HG01981.hp1 HG02015.hp2 HG02056.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0008g0008others(5): Show | 11 | 446 | 0.0247 | -7 | c.*62 others(18): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4795 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746238 | AAATATAT | A | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0019a0001c0002t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0019g0024a0001c0002t0003g0003others(3): Show | 6 | 446 | 0.0135 | -7 | c.*62 others(18): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4793 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746240 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(24): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(13): Show | a0001c0002t0003g0003a0001c0002t0004g0004a0001c0002t0005g0005others(13): Show | 27 | 446 | 0.0605 | -7 | c.*62 others(18): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4791 | chr15 | TogoVar | ||||||
GK5_chr3_142152527_142230585 | 142161084 | TTTTTTTG | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0079others(5): Show | a0001c0001t0005g0005a0001c0001t0005g0016a0001c0001t0005g0019others(17): Show | 21 | 272 | 0.0772 | -7 | c.*45 others(18): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 4531 | chr3 | TogoVar | |||||
GK_chrX_30648423_30736462 | 30657703 | AGTAACTG | A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0185 | 1 | 286 | 0.0035 | -7 | c.78+ others(22): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GK_chrX_30648423_30736462 | 30684666 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 286 | 0.0035 | -7 | c.338 others(24): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GK_chrX_30648423_30736462 | 30707731 | CAATACAA | C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 286 | 0.0035 | -7 | c.894 others(22): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLA_chrX_101392803_101412925 | 101411404 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0116 | 2 | 318 | 0.0063 | -7 | c.-35 others(18): Show |
GLA | ENSG00000102393.15 | transcript | ENST00000218516.4 | protein_coding | 3480 | chrX | TogoVar | ||||||
GLB1L2_chr11_134326988_134381324 | 134376263 | GCCCAACA | G | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02257.hp2 others(7): Show |
a0001a0002a0004 | a0001c0011a0002c0012a0002c0038others(2): Show | a0001c0011t0007a0002c0012t0007a0002c0038t0007others(2): Show | a0001c0011t0007g0182a0001c0011t0007g0236a0001c0011t0007g0378others(7): Show | 10 | 414 | 0.0242 | -7 | c.*12 others(18): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 19/19 | 1208 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
GLB1L3_chr11_134271379_134324564 | 134279364 | CTTTTTTT | C | intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0262a0001c0001t0002g0263a0001c0001t0002g0264others(3): Show | 6 | 422 | 0.0142 | -7 | c.362 others(24): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |