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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLB1_chr3_32991617_33102146 | 33042370 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(40): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0024others(40): Show | 43 | 394 | 0.1091 | 8 | c.106 others(27): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33064441 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01981.hp2 HG01993.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0073a0001c0001t0001g0088others(6): Show | 9 | 394 | 0.0228 | 8 | c.552 others(25): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 5/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33064776 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0075a0001c0001t0001g0111a0001c0001t0001g0112others(43): Show | 46 | 394 | 0.1168 | 8 | c.552 others(23): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 5/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33080098 | T | TTGTTGTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(137): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0006a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0029others(137): Show | 140 | 394 | 0.3553 | 8 | c.76- others(23): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7973413 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01081.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0338a0001c0001t0001g0339a0001c0001t0001g0340others(40): Show | 43 | 416 | 0.1034 | 8 | c.457 others(25): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 7981264 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG02976.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0383a0002c0003t0020g0384a0002c0003t0020g0385others(1): Show | 4 | 416 | 0.0096 | 8 | c.457 others(27): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 7992043 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG01081.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0126a0001c0001t0001g0172a0001c0001t0001g0225others(25): Show | 28 | 416 | 0.0673 | 8 | c.458 others(27): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 8040525 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01074.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0230a0001c0001t0001g0263a0001c0001t0001g0267others(13): Show | 16 | 416 | 0.0385 | 8 | c.697 others(27): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 8053005 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01081.hp2 others(85): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(27): Show | a0001c0001t0001g0035a0001c0001t0001g0245a0001c0001t0001g0342others(84): Show | 88 | 416 | 0.2115 | 8 | c.697 others(25): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 8088240 | T | TTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0029a0001c0001t0079others(1): Show | a0001c0001t0023g0080a0001c0001t0023g0106a0001c0001t0023g0115others(5): Show | 8 | 416 | 0.0192 | 8 | c.*17 others(19): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 8/8 | 1734 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
GLCE_chr15_69155635_69277207 | 69171012 | G | GACAGCTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18998.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0229a0001c0001t0001g0281 | 3 | 342 | 0.0088 | 8 | c.-10 others(29): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GLCE_chr15_69155635_69277207 | 69182269 | T | TTGTTTGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(4): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0010a0004c0005t0007a0004c0005t0013 | a0002c0002t0010g0010a0002c0002t0010g0011a0004c0005t0007g0012others(4): Show | 7 | 342 | 0.0205 | 8 | c.-10 others(29): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GLCE_chr15_69155635_69277207 | 69215539 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02280.hp2 HG02486.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0003t0005others(4): Show | a0001c0001t0001g0299a0001c0001t0003g0155a0001c0001t0003g0192others(16): Show | 20 | 342 | 0.0585 | 8 | c.-14 others(25): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GLCE_chr15_69155635_69277207 | 69273450 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG02027.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0129a0001c0001t0003g0147a0001c0001t0003g0151others(20): Show | 23 | 342 | 0.0673 | 8 | c.*42 others(19): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 1244 | chr15 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6594803 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(21): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0283a0001c0001t0001g0300others(20): Show | 24 | 342 | 0.0702 | 8 | c.126 others(25): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 9/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6612253 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02818.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002a0001c0037 | a0001c0001t0004a0001c0002t0023a0001c0037t0006 | a0001c0001t0004g0284a0001c0002t0023g0077a0001c0037t0006g0277 | 3 | 342 | 0.0088 | 8 | c.471 others(25): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 3/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6612253 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0161a0001c0002t0001g0013a0001c0005t0001g0233others(7): Show | 10 | 342 | 0.0292 | 8 | c.471 others(25): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 3/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6622159 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02630.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0006others(2): Show | a0001c0001t0001a0001c0003t0003a0002c0006t0001others(3): Show | a0001c0001t0001g0127a0001c0001t0001g0275a0001c0003t0003g0026others(5): Show | 8 | 342 | 0.0234 | 8 | c.335 others(25): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6634527 | T | TCAAACAA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0037 | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(2): Show | a0001c0001t0001g0275a0001c0001t0001g0283a0001c0001t0004g0284others(3): Show | 6 | 342 | 0.0175 | 8 | c.334 others(27): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6644050 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(25): Show |
a0001a0003a0008 | a0001c0002a0001c0003a0001c0014others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0002t0001g0070a0001c0002t0001g0071a0001c0002t0001g0076others(25): Show | 28 | 342 | 0.0819 | 8 | c.334 others(23): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74465061 | A | ACTCCTGA others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 NA19083.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0031 | a0001c0001t0002g0149a0001c0001t0005g0130a0001c0001t0031g0132 | 3 | 342 | 0.0088 | 8 | c.266 others(25): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 19/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74477977 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0014a0001c0004t0001others(1): Show | a0001c0001t0001g0179a0001c0001t0014g0172a0001c0001t0014g0176others(2): Show | 5 | 342 | 0.0146 | 8 | c.182 others(25): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 11/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74477977 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02083.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0002t0051a0001c0003t0008 | a0001c0002t0004g0008a0001c0002t0004g0027a0001c0002t0051g0048others(1): Show | 4 | 342 | 0.0117 | 8 | c.182 others(25): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 11/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74479051 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(1): Show | a0001c0001t0001g0250a0001c0001t0006g0201a0001c0001t0006g0312others(4): Show | 7 | 342 | 0.0205 | 8 | c.182 others(27): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 11/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74506581 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(80): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0170a0001c0001t0001g0177a0001c0001t0001g0227others(80): Show | 83 | 342 | 0.2427 | 8 | c.558 others(25): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 3/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74546837 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(83): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0060a0001c0001t0001g0088a0001c0001t0001g0090others(83): Show | 86 | 342 | 0.2515 | 8 | c.439 others(27): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74574883 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02071.hp1 HG02145.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(7): Show | a0001c0001t0001g0091a0001c0001t0001g0157a0001c0001t0001g0211others(19): Show | 22 | 342 | 0.0643 | 8 | c.438 others(27): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120768799 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03516.hp1 |
a0001a0003 | a0001c0003a0003c0012 | a0001c0003t0042a0003c0012t0041 | a0001c0003t0042g0031a0003c0012t0041g0030 | 2 | 160 | 0.0125 | 8 | c.-30 others(27): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI2_chr2_120730868_120997653 | 120768828 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 HG02896.hp2 others(1): Show |
a0001a0002a0003 | a0001c0002a0001c0026a0002c0004others(1): Show | a0001c0002t0001a0001c0026t0020a0002c0004t0004others(1): Show | a0001c0002t0001g0057a0001c0026t0020g0151a0002c0004t0004g0152others(1): Show | 4 | 160 | 0.0250 | 8 | c.-30 others(27): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI2_chr2_120730868_120997653 | 120898177 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00735.hp2 others(12): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(10): Show | a0001c0002t0001g0057a0001c0002t0005g0013a0001c0002t0005g0038others(12): Show | 15 | 160 | 0.0938 | 8 | c.149 others(27): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI2_chr2_120730868_120997653 | 120924542 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02451.hp2 |
a0002a0013a0014 | a0002c0004a0013c0017a0014c0028 | a0002c0004t0023a0013c0017t0040a0014c0028t0013 | a0002c0004t0023g0115a0013c0017t0040g0036a0014c0028t0013g0098 | 3 | 160 | 0.0188 | 8 | c.149 others(25): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI2_chr2_120730868_120997653 | 120945957 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01109.hp2 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0025others(7): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0010others(20): Show | a0001c0002t0001g0057a0001c0002t0005g0136a0001c0002t0010g0084others(24): Show | 27 | 160 | 0.1688 | 8 | c.255 others(25): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI2_chr2_120730868_120997653 | 120951926 | T | TGTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01109.hp2 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0025others(5): Show | a0001c0003t0005a0001c0003t0007a0001c0003t0008others(18): Show | a0001c0003t0005g0052a0001c0003t0007g0051a0001c0003t0008g0012others(21): Show | 24 | 160 | 0.1500 | 8 | c.457 others(23): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI2_chr2_120730868_120997653 | 120983944 | G | GTGGGGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02602.hp1 NA19240.hp1 |
a0001a0004 | a0001c0003a0001c0016a0004c0008 | a0001c0003t0036a0001c0016t0048a0004c0008t0037 | a0001c0003t0036g0015a0001c0016t0048g0143a0004c0008t0037g0054 | 3 | 160 | 0.0188 | 8 | c.163 others(25): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 11/13 | chr2 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120992007 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01981.hp1 HG02027.hp2 HG03017.hp1 |
a0002a0006 | a0002c0001a0006c0009 | a0002c0001t0014a0002c0001t0030a0006c0009t0014 | a0002c0001t0014g0119a0002c0001t0030g0048a0006c0009t0014g0081 | 3 | 160 | 0.0188 | 8 | c.*13 others(19): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 14/14 | 1377 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
GLI3_chr7_41955949_42242209 | 41968713 | G | GAAAGAAG others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 |
a0001 | a0001c0009 | a0001c0009t0001a0001c0009t0023 | a0001c0009t0001g0132a0001c0009t0023g0005 | 2 | 158 | 0.0127 | 8 | c.210 others(25): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 41968743 | A | AGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02735.hp2 |
a0001a0005 | a0001c0021a0005c0008 | a0001c0021t0004a0005c0008t0019 | a0001c0021t0004g0036a0005c0008t0019g0077 | 2 | 158 | 0.0127 | 8 | c.210 others(25): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 41968747 | A | AGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02451.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0002 | a0001c0001t0008g0008a0002c0002t0002g0106 | 2 | 158 | 0.0127 | 8 | c.210 others(25): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 41987101 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02647.hp2 others(5): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0010 | a0001c0001t0020a0001c0001t0046a0001c0001t0048others(2): Show | a0001c0001t0020g0126a0001c0001t0046g0157a0001c0001t0048g0158others(5): Show | 8 | 158 | 0.0506 | 8 | c.149 others(27): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 41987101 | G | GACACAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0001c0001t0001g0038a0002c0002t0002g0052a0002c0002t0002g0074others(22): Show | 25 | 158 | 0.1582 | 8 | c.149 others(27): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 41990122 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02027.hp2 NA18942.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0028 | a0002c0002t0002g0118a0002c0002t0003g0026a0002c0002t0003g0062others(2): Show | 5 | 158 | 0.0317 | 8 | c.149 others(29): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42005458 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG01243.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0041a0001c0001t0001g0043others(17): Show | 20 | 158 | 0.1266 | 8 | c.149 others(29): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42056798 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02258.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0015others(6): Show | a0001c0001t0001g0100a0001c0001t0012g0156a0001c0001t0015g0001others(7): Show | 10 | 158 | 0.0633 | 8 | c.474 others(25): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 4/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42101668 | T | TTTCATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01109.hp1 others(14): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0021others(7): Show | a0001c0001t0001g0020a0001c0001t0001g0043a0001c0001t0001g0100others(14): Show | 17 | 158 | 0.1076 | 8 | c.368 others(27): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 3/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42101668 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(70): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(36): Show | a0001c0001t0001g0044a0001c0001t0001g0053a0001c0001t0001g0071others(70): Show | 73 | 158 | 0.4620 | 8 | c.368 others(27): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 3/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42132074 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01433.hp2 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(12): Show | a0001c0001t0001g0039a0001c0001t0001g0043a0001c0001t0001g0080others(21): Show | 24 | 158 | 0.1519 | 8 | c.367 others(27): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 3/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42164829 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01891.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0135a0001c0001t0006g0109others(5): Show | 8 | 158 | 0.0506 | 8 | c.125 others(27): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42182644 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG01891.hp1 others(2): Show |
a0001a0003a0004others(2): Show | a0001c0005a0003c0003a0004c0004others(2): Show | a0001c0005t0007a0003c0003t0003a0004c0004t0001others(2): Show | a0001c0005t0007g0046a0003c0003t0003g0023a0004c0004t0001g0145others(2): Show | 5 | 158 | 0.0317 | 8 | c.125 others(27): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42188002 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01175.hp2 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(30): Show | a0001c0001t0001g0031a0001c0001t0001g0041a0001c0001t0001g0048others(43): Show | 46 | 158 | 0.2911 | 8 | c.124 others(27): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42194759 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01433.hp2 HG01884.hp1 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0001g0080a0001c0001t0001g0088a0001c0001t0001g0089others(23): Show | 26 | 158 | 0.1646 | 8 | c.124 others(27): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar |