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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GIMAP8_chr7_150445630_150484393 | 150452709 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(41): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(5): Show | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0183others(18): Show | 44 | 372 | 0.1183 | 8 | c.-29 others(25): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIMAP8_chr7_150445630_150484393 | 150452709 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01358.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0052others(1): Show | 4 | 372 | 0.0108 | 8 | c.-29 others(25): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIMD1_chr4_106352392_106373778 | 106354214 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG02809.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0004a0001c0002t0001g0053a0001c0002t0001g0148others(1): Show | 4 | 452 | 0.0089 | 8 | c.*39 others(19): Show |
GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 3177 | chr4 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149572078 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0089a0001c0001t0001g0091others(1): Show | 5 | 380 | 0.0132 | 8 | c.121 others(23): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GINS1_chr20_25402673_25453563 | 25423452 | C | CTTTTCTT others(1): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02523.hp1 HG02602.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0229a0001c0001t0001g0230others(11): Show | 15 | 360 | 0.0417 | 8 | c.331 others(25): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS1_chr20_25402673_25453563 | 25443980 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(95): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(88): Show | 98 | 360 | 0.2722 | 8 | c.523 others(25): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS2_chr16_85671198_85693954 | 85671439 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0001t0014others(11): Show | a0001c0001t0003g0012a0001c0001t0003g0018a0001c0001t0003g0019others(37): Show | 47 | 470 | 0.1000 | 8 | c.*67 others(19): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 4758 | chr16 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01978.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0011 | a0001c0001t0001g0001a0001c0001t0002g0075a0001c0001t0002g0100others(3): Show | 6 | 426 | 0.0141 | 8 | c.*47 others(19): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14485684 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01256.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004a0001c0002t0008others(5): Show | a0001c0001t0004g0031a0001c0002t0004g0007a0001c0002t0004g0008others(15): Show | 23 | 444 | 0.0518 | 8 | c.-30 others(25): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATAGA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01255.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0016 | a0001c0001t0001g0171a0001c0001t0001g0191a0001c0001t0001g0200others(2): Show | 6 | 444 | 0.0135 | 8 | c.-30 others(25): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02135.hp2 HG03831.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(3): Show | a0001c0001t0002g0103a0001c0001t0003g0284a0001c0002t0004g0310others(4): Show | 8 | 444 | 0.0180 | 8 | c.-30 others(25): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78118247 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01109.hp1 others(48): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0096a0001c0001t0001g0098a0001c0001t0001g0099others(48): Show | 51 | 332 | 0.1536 | 8 | c.608 others(25): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GIPC2_chr1_78040966_78143444 | 78129007 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0023 | a0001c0001t0004g0002a0001c0001t0004g0008a0001c0001t0004g0035others(28): Show | 32 | 332 | 0.0964 | 8 | c.796 others(25): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GIPC2_chr1_78040966_78143444 | 78132665 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(155): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0004a0001c0001t0001g0067a0001c0001t0001g0072others(152): Show | 158 | 332 | 0.4759 | 8 | c.797 others(25): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GIPC3_chr19_3580478_3598541 | 3587270 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG01884.hp2 others(32): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(16): Show | a0001c0002t0001g0018a0001c0002t0002g0020a0001c0002t0003g0017others(24): Show | 35 | 430 | 0.0814 | 8 | c.592 others(23): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GIP_chr17_48953554_48973596 | 48963841 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01175.hp2 others(19): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0067a0001c0001t0001g0071others(12): Show | 22 | 406 | 0.0542 | 8 | c.257 others(23): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 3/5 | chr17 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48963862 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01069.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0026others(11): Show | 33 | 406 | 0.0813 | 8 | c.257 others(23): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 3/5 | chr17 | TogoVar | ||||||
GIT2_chr12_109924804_110001368 | 109964620 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01169.hp1 others(11): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0078a0001c0001t0001g0086a0001c0001t0001g0087others(11): Show | 14 | 242 | 0.0579 | 8 | c.816 others(23): Show |
GIT2 | ENSG00000139436.22 | transcript | ENST00000355312.8 | protein_coding | 9/19 | chr12 | TogoVar | ||||||
GJA10_chr6_89889469_89901120 | 89900758 | T | TTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 64 | 386 | 0.1658 | 8 | c.*46 others(19): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 4639 | chr6 | TogoVar | ||||||
GJA8_chr1_147897795_147914269 | 147899925 | G | GAGAAAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(9): Show | 53 | 472 | 0.1123 | 8 | c.-29 others(19): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2869 | chr1 | TogoVar | ||||||
GJA8_chr1_147897795_147914269 | 147899944 | A | AAAGAAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(8): Show | 38 | 472 | 0.0805 | 8 | c.-29 others(19): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2850 | chr1 | TogoVar | ||||||
GJA8_chr1_147897795_147914269 | 147899948 | A | AAAGAAAG others(1): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 NA18979.hp2 NA19002.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 4 | 472 | 0.0085 | 8 | c.-29 others(19): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2846 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38880402 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01361.hp2 HG01934.hp1 others(7): Show |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0001a0005c0008t0001 | a0002c0002t0001g0020a0002c0002t0001g0042a0002c0002t0001g0119others(2): Show | 10 | 444 | 0.0225 | 8 | c.-96 others(25): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38883298 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG02071.hp1 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0002a0001c0005t0001a0001c0005t0002others(1): Show | a0001c0001t0002g0002a0001c0005t0001g0010a0001c0005t0002g0047others(2): Show | 5 | 444 | 0.0113 | 8 | c.-19 others(19): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1712 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38883298 | T | TATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG02148.hp2 HG03927.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0006a0002c0002t0001g0011a0002c0002t0003g0039 | 3 | 444 | 0.0068 | 8 | c.-19 others(19): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1712 | chr1 | TogoVar | ||||||
GJB1_chrX_71218224_71230516 | 71221323 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 328 | 0.0061 | 8 | c.-20 others(19): Show |
GJB1 | ENSG00000169562.13 | transcript | ENST00000361726.7 | protein_coding | 1900 | chrX | TogoVar | ||||||
GJB5_chr1_34750047_34763512 | 34752221 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0003g0002a0001c0001t0003g0004others(8): Show | 28 | 468 | 0.0598 | 8 | c.-29 others(19): Show |
GJB5 | ENSG00000189280.3 | transcript | ENST00000338513.1 | protein_coding | 2825 | chr1 | TogoVar | ||||||
GJB6_chr13_20216962_20237319 | 20233436 | A | AATTTATT others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01081.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0035a0001c0001t0001g0069others(28): Show | 31 | 460 | 0.0674 | 8 | c.-16 others(19): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 1118 | chr13 | TogoVar | ||||||
GJC1_chr17_44793448_44835287 | 44808428 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0050 | a0001c0001t0005g0132a0001c0001t0009g0023a0001c0001t0009g0024others(8): Show | 11 | 380 | 0.0290 | 8 | c.-96 others(23): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
GJC1_chr17_44793448_44835287 | 44819659 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024a0001c0001t0055 | a0001c0001t0002g0159a0001c0001t0024g0074a0001c0001t0055g0130 | 3 | 380 | 0.0079 | 8 | c.-97 others(27): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
GJC1_chr17_44793448_44835287 | 44833224 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0249a0001c0001t0001g0251a0001c0001t0001g0252others(30): Show | 36 | 380 | 0.0947 | 8 | c.-32 others(19): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 2938 | chr17 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34748033 | T | TTCTACCC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(435): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(66): Show | a0001c0001t0001g0001a0001c0001t0001g0079a0001c0001t0002g0002others(77): Show | 438 | 446 | 0.9821 | 8 | c.*44 others(19): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 2998 | chr15 | TogoVar | ||||||
GJD3_chr17_40355652_40369737 | 40369300 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02970.hp1 HG03579.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0005g0000others(2): Show | 9 | 370 | 0.0243 | 8 | c.-54 others(19): Show |
GJD3 | ENSG00000183153.7 | transcript | ENST00000578689.2 | protein_coding | 4564 | chr17 | TogoVar | ||||||
GJD4_chr10_35600341_35613935 | 35600858 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01167.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0012 | 14 | 440 | 0.0318 | 8 | c.-47 others(19): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 4482 | chr10 | TogoVar | ||||||
GK3_chr4_165272807_165284704 | 165277748 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00621.hp1 others(12): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0005 | a0001c0001t0001a0003c0004t0001a0005c0005t0001 | a0001c0001t0001g0000a0003c0004t0001g0000a0005c0005t0001g0000 | 15 | 384 | 0.0391 | 8 | c.*22 others(17): Show |
GK3 | ENSG00000229894.5 | transcript | ENST00000505354.3 | protein_coding | 58 | chr4 | TogoVar | ||||||
GKAP1_chr9_83734425_83822769 | 83771237 | G | GTTGTTTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0159a0001c0001t0003g0163a0001c0001t0003g0174others(5): Show | 8 | 336 | 0.0238 | 8 | c.586 others(25): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 7/12 | chr9 | TogoVar | ||||||
GKAP1_chr9_83734425_83822769 | 83779446 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01256.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0234a0001c0001t0002g0245a0001c0001t0002g0251others(5): Show | 9 | 336 | 0.0268 | 8 | c.585 others(23): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 7/12 | chr9 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68972749 | G | GTGTATGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0003 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(6): Show | 14 | 464 | 0.0302 | 8 | c.-19 others(19): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 1886 | chr2 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68972779 | G | GTATCTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(23): Show | 37 | 464 | 0.0797 | 8 | c.-18 others(19): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 1856 | chr2 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68972779 | G | GTATGTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG02300.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0040others(3): Show | 8 | 464 | 0.0172 | 8 | c.-18 others(19): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 1856 | chr2 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68978259 | A | AGAAAGAG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00621.hp1 others(16): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0003 | a0001c0003t0003g0006a0001c0003t0003g0107a0001c0003t0003g0111others(1): Show | 19 | 464 | 0.0410 | 8 | c.204 others(23): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03579.hp2 NA18957.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0003 | a0001c0001t0004g0086a0001c0003t0003g0021 | 5 | 464 | 0.0108 | 8 | c.204 others(23): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GK_chrX_30648423_30736462 | 30662709 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01175.hp1 HG01943.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0084others(6): Show | 9 | 286 | 0.0315 | 8 | c.79- others(23): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GK_chrX_30648423_30736462 | 30704128 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02630.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0006 | a0001c0001t0005g0104a0001c0002t0006g0186 | 2 | 286 | 0.0070 | 8 | c.851 others(25): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLB1L2_chr11_134326988_134381324 | 134341382 | G | GCGACAGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0003a0009others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0013others(107): Show | 123 | 414 | 0.2971 | 8 | c.87- others(23): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1L_chr2_219231598_219250444 | 219241434 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18990.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0030a0001c0001t0005g0115 | 4 | 410 | 0.0098 | 8 | c.451 others(25): Show |
GLB1L | ENSG00000163521.16 | transcript | ENST00000295759.12 | protein_coding | 5/16 | chr2 | TogoVar | ||||||
GLB1L_chr2_219231598_219250444 | 219241436 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00673.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0023a0001c0001t0001g0028a0001c0001t0005g0133 | 8 | 410 | 0.0195 | 8 | c.451 others(25): Show |
GLB1L | ENSG00000163521.16 | transcript | ENST00000295759.12 | protein_coding | 5/16 | chr2 | TogoVar | ||||||
GLB1L_chr2_219231598_219250444 | 219241442 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058a0001c0001t0002g0164a0001c0001t0002g0165 | 4 | 410 | 0.0098 | 8 | c.451 others(25): Show |
GLB1L | ENSG00000163521.16 | transcript | ENST00000295759.12 | protein_coding | 5/16 | chr2 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33002324 | T | TCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(88): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(88): Show | 91 | 394 | 0.2310 | 8 | c.173 others(27): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 15/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33009122 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02486.hp2 HG02572.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0029others(12): Show | 15 | 394 | 0.0381 | 8 | c.173 others(27): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 15/15 | chr3 | TogoVar |