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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AANAT_chr17_76462603_76475117 | 76470307 | T | TG | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(112): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(8): Show | 115 | 426 | 0.2700 | 1 | c.*33 others(10): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 191 | chr17 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76471301 | A | AC | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0014 | a0001c0001t0001a0001c0001t0002a0002c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0005a0002c0005t0001g0009others(1): Show | 12 | 426 | 0.0282 | 1 | c.*13 others(12): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 1185 | chr17 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36238755 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG01257.hp1 HG02109.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0001a0001c0003t0001a0004c0008t0001 | a0001c0001t0001g0026a0001c0001t0001g0078a0001c0001t0001g0079others(3): Show | 7 | 298 | 0.0235 | 1 | c.-48 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36242143 | C | CT | intron_variant | MODIFIER | HG01175.hp2 HG02809.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0089others(6): Show | 9 | 298 | 0.0302 | 1 | c.757 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36242854 | G | GT | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01106.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0025a0001c0001t0001g0027others(34): Show | 48 | 298 | 0.1611 | 1 | c.758 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36247559 | T | TA | intron_variant | MODIFIER | HG00738.hp2 HG01169.hp1 HG01361.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005a0001c0002t0002g0031a0001c0002t0002g0075others(10): Show | 20 | 298 | 0.0671 | 1 | c.987 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36247899 | T | TA | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01109.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0057a0001c0002t0001g0006a0001c0002t0001g0032others(35): Show | 57 | 298 | 0.1913 | 1 | c.987 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36248337 | C | CT | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0046a0001c0001t0001g0072a0001c0001t0001g0093others(7): Show | 10 | 298 | 0.0336 | 1 | c.987 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36258834 | C | CA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp2 others(65): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(45): Show | 68 | 298 | 0.2282 | 1 | c.*30 others(12): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1902 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36260717 | A | AT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(45): Show | 61 | 298 | 0.2047 | 1 | c.*49 others(12): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3785 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36260886 | A | AT | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02922.hp2 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0011 | a0001c0002t0007g0170a0001c0002t0007g0171a0001c0002t0011g0166 | 3 | 298 | 0.0101 | 1 | c.*51 others(12): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3954 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36261356 | C | CT | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01261.hp2 HG01361.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0001g0084a0001c0001t0001g0124a0001c0001t0001g0138others(17): Show | 26 | 298 | 0.0873 | 1 | c.*56 others(12): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4424 | chr20 | TogoVar | ||||||
AARD_chr8_116933207_116949487 | 116942999 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00741.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0002c0002t0005others(2): Show | a0001c0001t0005g0006a0001c0001t0005g0010a0001c0001t0005g0011others(9): Show | 29 | 442 | 0.0656 | 1 | c.*32 others(5): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 321 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
AARD_chr8_116933207_116949487 | 116947613 | A | AT | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02818.hp2 HG02886.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0015a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0022others(3): Show | 12 | 442 | 0.0272 | 1 | c.*49 others(12): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 3127 | chr8 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70248771 | C | CT | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01496.hp1 HG01496.hp2 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0039a0001c0001t0001g0043others(18): Show | 21 | 362 | 0.0580 | 1 | c.*39 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3526 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70249014 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0041others(50): Show | 54 | 362 | 0.1492 | 1 | c.*37 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3283 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70249393 | G | GC | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0047a0001c0001t0001g0048others(7): Show | 10 | 362 | 0.0276 | 1 | c.*33 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2904 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70249397 | C | CA | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01255.hp1 HG01433.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0104a0001c0002t0001g0001a0001c0002t0001g0148others(14): Show | 18 | 362 | 0.0497 | 1 | c.*33 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2900 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70250241 | A | AT | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02486.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(19): Show | 22 | 362 | 0.0608 | 1 | c.*24 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2056 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70255194 | A | AT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(97): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0038others(97): Show | 100 | 362 | 0.2762 | 1 | c.228 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70257243 | C | CA | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02723.hp1 others(10): Show |
a0001a0002a0005 | a0001c0003a0002c0004a0005c0009 | a0001c0003t0001a0002c0004t0001a0005c0009t0001 | a0001c0003t0001g0215a0002c0004t0001g0335a0002c0004t0001g0337others(10): Show | 13 | 362 | 0.0359 | 1 | c.217 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 15/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70259778 | G | GT | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG02015.hp1 others(40): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(40): Show | 43 | 362 | 0.1188 | 1 | c.178 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 13/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70261597 | C | CA | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp1 HG01433.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0025a0001c0001t0001g0039others(34): Show | 37 | 362 | 0.1022 | 1 | c.167 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70261671 | A | AT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(171): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(170): Show | 174 | 362 | 0.4807 | 1 | c.167 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70262967 | C | CA | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG01192.hp1 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0162a0001c0002t0001g0177a0001c0002t0001g0183others(19): Show | 22 | 362 | 0.0608 | 1 | c.149 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70262996 | A | AC | intron_variant | MODIFIER | NA18949.hp1 NA19065.hp1 NA19082.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0163a0001c0002t0001g0360a0001c0003t0001g0306 | 3 | 362 | 0.0083 | 1 | c.149 others(18): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70264731 | A | AT | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02109.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0002c0004t0001others(2): Show | a0001c0002t0001g0262a0001c0002t0003g0322a0001c0002t0003g0323others(20): Show | 23 | 362 | 0.0635 | 1 | c.149 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70265687 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(20): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0166a0001c0002t0001g0165a0001c0002t0001g0184others(20): Show | 23 | 362 | 0.0635 | 1 | c.122 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 9/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70269322 | G | GA | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01106.hp2 others(17): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(1): Show | a0001c0002t0001g0165a0001c0002t0001g0217a0001c0002t0001g0221others(17): Show | 20 | 362 | 0.0553 | 1 | c.962 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70269432 | G | GA | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG03486.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0151a0003c0005t0001g0152a0003c0005t0001g0153others(1): Show | 4 | 362 | 0.0111 | 1 | c.962 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70270837 | C | CA | intron_variant | MODIFIER | HG01346.hp2 HG02451.hp2 HG02723.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0009 | a0001c0001t0001a0002c0004t0001a0005c0009t0001 | a0001c0001t0001g0022a0001c0001t0001g0071a0001c0001t0001g0074others(12): Show | 15 | 362 | 0.0414 | 1 | c.672 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70271536 | C | CA | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0040a0001c0001t0001g0084a0001c0001t0001g0085others(6): Show | 9 | 362 | 0.0249 | 1 | c.671 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272506 | C | CA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01192.hp1 others(25): Show |
a0001 | a0001c0002a0001c0003a0001c0012 | a0001c0002t0001a0001c0003t0001a0001c0012t0001 | a0001c0002t0001g0177a0001c0002t0001g0189a0001c0002t0001g0197others(25): Show | 28 | 362 | 0.0774 | 1 | c.480 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272778 | T | TG | intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG02109.hp2 others(23): Show |
a0001a0002a0005 | a0001c0003a0002c0004a0005c0009 | a0001c0003t0001a0002c0004t0001a0005c0009t0001 | a0001c0003t0001g0181a0002c0004t0001g0335a0002c0004t0001g0337others(23): Show | 26 | 362 | 0.0718 | 1 | c.480 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70273863 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01081.hp1 others(36): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0062a0001c0001t0001g0069others(36): Show | 39 | 362 | 0.1077 | 1 | c.480 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70274934 | T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01070.hp2 others(40): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0154a0001c0002t0001g0155others(39): Show | 43 | 362 | 0.1188 | 1 | c.479 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70275936 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00597.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0038a0001c0001t0001g0043others(33): Show | 36 | 362 | 0.0995 | 1 | c.479 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70277758 | C | CT | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG03486.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0008a0001c0002t0001a0003c0005t0001 | a0001c0001t0008g0261a0001c0002t0001g0255a0001c0002t0001g0267others(3): Show | 6 | 362 | 0.0166 | 1 | c.145 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70279350 | C | CA | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG00738.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0061a0001c0001t0001g0065others(42): Show | 45 | 362 | 0.1243 | 1 | c.145 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70279670 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp2 HG02027.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0035a0001c0001t0001g0049a0001c0001t0001g0069others(5): Show | 8 | 362 | 0.0221 | 1 | c.145 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70282329 | A | AG | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG03486.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0151a0003c0005t0001g0152a0003c0005t0001g0153 | 3 | 362 | 0.0083 | 1 | c.144 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70282331 | G | GA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(314): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(312): Show | 317 | 362 | 0.8757 | 1 | c.144 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70285227 | T | TA | intron_variant | MODIFIER | HG01433.hp2 HG02015.hp2 HG02040.hp2 others(29): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0040a0001c0001t0001g0109a0001c0001t0001g0113others(29): Show | 32 | 362 | 0.0884 | 1 | c.-21 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70286362 | A | AT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp2 others(47): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0040others(46): Show | 50 | 362 | 0.1381 | 1 | c.-22 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70287254 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0024others(125): Show | 129 | 362 | 0.3564 | 1 | c.-22 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70288098 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(73): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0166a0001c0001t0002g0164others(73): Show | 76 | 362 | 0.2099 | 1 | c.-22 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70288431 | T | TC | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02723.hp1 others(9): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(9): Show | 12 | 362 | 0.0332 | 1 | c.-22 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70288565 | C | CT | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02723.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0005others(1): Show | a0001c0001t0001a0002c0004t0001a0003c0005t0001others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0002c0004t0001g0335others(14): Show | 17 | 362 | 0.0470 | 1 | c.-22 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289738 | A | AC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(79): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0032a0001c0001t0001g0059others(79): Show | 82 | 362 | 0.2265 | 1 | c.-34 others(5): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 233 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289748 | G | GC | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG01261.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0036a0001c0001t0001g0040a0001c0001t0001g0055others(12): Show | 15 | 362 | 0.0414 | 1 | c.-35 others(5): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 243 | chr16 | TogoVar |