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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAMDC_chr11_77816144_77877352 | 77823614 | CCTG | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(80): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0012a0001c0002t0001g0014a0001c0002t0001g0019others(78): Show | 83 | 382 | 0.2173 | -3 | c.-19 others(20): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77868698 | GTTT | G | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01496.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(12): Show | 15 | 382 | 0.0393 | -3 | c.133 others(20): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMP_chr2_218259129_218275137 | 218273479 | ATTT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(135): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0011others(12): Show | 138 | 400 | 0.3450 | -3 | c.-33 others(14): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3343 | chr2 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36237750 | GTAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00639.hp1 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0026others(34): Show | 56 | 298 | 0.1879 | -3 | c.-49 others(20): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36242364 | TTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(80): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(52): Show | 83 | 298 | 0.2785 | -3 | c.757 others(20): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36257841 | AAAG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(65): Show |
a0001a0002a0003 | a0001c0001a0002c0006a0003c0009 | a0001c0001t0001a0002c0006t0001a0003c0009t0010 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(43): Show | 68 | 298 | 0.2282 | -3 | c.*20 others(14): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 909 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258348 | GAAC | G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005a0001c0002t0002g0031a0001c0002t0002g0088others(10): Show | 20 | 298 | 0.0671 | -3 | c.*26 others(14): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1416 | chr20 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70249055 | CACA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01070.hp2 others(32): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0154a0001c0002t0001g0155others(31): Show | 35 | 362 | 0.0967 | -3 | c.*36 others(14): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3242 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70262967 | CAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02559.hp2 others(13): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(13): Show | 16 | 362 | 0.0442 | -3 | c.149 others(20): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70268073 | CAGG | C | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp2 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0322a0001c0002t0003g0323a0001c0002t0003g0324 | 3 | 362 | 0.0083 | -3 | c.107 others(20): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 8/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272506 | CAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01433.hp2 HG02055.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0003a0002c0004t0001 | a0001c0001t0001g0076a0001c0002t0003g0322a0002c0004t0001g0348others(3): Show | 6 | 362 | 0.0166 | -3 | c.480 others(18): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70288091 | CCTT | C | intron_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG02896.hp2 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0350a0002c0004t0001g0351a0002c0004t0001g0352others(6): Show | 9 | 362 | 0.0249 | -3 | c.-22 others(20): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44294791 | AAAG | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(41): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0003a0001c0002t0019a0001c0018t0003 | a0001c0002t0003g0003a0001c0002t0003g0016a0001c0002t0003g0021others(5): Show | 44 | 396 | 0.1111 | -3 | c.*57 others(14): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 3939 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44301927 | CAGG | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(91): Show |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0002a0001c0002t0010a0001c0002t0015others(2): Show | a0001c0002t0002g0002a0001c0002t0002g0006a0001c0002t0002g0026others(20): Show | 94 | 396 | 0.2374 | -3 | c.259 others(20): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 19/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44306404 | GAGA | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(46): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0003a0001c0002t0019a0001c0018t0003 | a0001c0002t0003g0003a0001c0002t0003g0016a0001c0002t0003g0021others(6): Show | 49 | 396 | 0.1237 | -3 | c.118 others(18): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 8/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44307715 | AAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0043 | 3 | 396 | 0.0076 | -3 | c.895 others(18): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 5/21 | chr6 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42945677 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01081.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0014others(6): Show | 15 | 324 | 0.0463 | -3 | c.*49 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4848 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965117 | TAAA | T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01943.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011others(3): Show | 6 | 324 | 0.0185 | -3 | c.-68 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 664 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965994 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01361.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0029others(4): Show | 16 | 324 | 0.0494 | -3 | c.-15 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967296 | TAAA | T | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03834.hp1 NA18522.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0067a0001c0001t0001g0072others(2): Show | 6 | 324 | 0.0185 | -3 | c.-28 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2843 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967304 | ATAT | A | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG02698.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(2): Show | 12 | 324 | 0.0370 | -3 | c.-28 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2851 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967339 | ATAT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(147): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(65): Show | 150 | 324 | 0.4630 | -3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2886 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967345 | TATA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03490.hp2 HG03669.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0013others(5): Show | 8 | 324 | 0.0247 | -3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2892 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967392 | TATA | T | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03139.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 4 | 324 | 0.0124 | -3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2939 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967417 | ATGT | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(5): Show | 10 | 324 | 0.0309 | -3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2964 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967418 | TGTA | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(16): Show | 28 | 324 | 0.0864 | -3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2965 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967463 | TGTA | T | upstream_gene_variant | MODIFIER | HG02683.hp1 HG03579.hp1 NA18951.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0009others(2): Show | 6 | 324 | 0.0185 | -3 | c.-30 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3010 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967482 | ATAT | A | upstream_gene_variant | MODIFIER | HG02818.hp1 HG03225.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0116a0001c0001t0001g0154 | 3 | 324 | 0.0093 | -3 | c.-30 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3029 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42969401 | CTTT | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01243.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0014others(18): Show | 31 | 324 | 0.0957 | -3 | c.-49 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4948 | chr17 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56337780 | TATG | T | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(111): Show |
a0001a0002a0005others(7): Show | a0001c0010a0002c0002a0002c0006others(9): Show | a0001c0010t0001a0002c0002t0001a0002c0002t0007others(10): Show | a0001c0010t0001g0280a0001c0010t0001g0281a0002c0002t0001g0002others(99): Show | 114 | 382 | 0.2984 | -3 | c.*61 others(12): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 509 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56343340 | AAAC | A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(98): Show |
a0002a0003a0006others(4): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(86): Show | 101 | 382 | 0.2644 | -3 | c.277 others(20): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 13/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56372752 | TATA | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -3 | c.669 others(20): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56378269 | GTTC | G | conservative_inframe_deletion | MODERATE | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -3 | c.544 others(10): Show |
p.Glu others(6): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/15 | 718/3581 | 544/3297 | 182/1098 | chr4 | TogoVar | ||
AASDH_chr4_56333290_56392491 | 56388819 | TATC | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(50): Show |
a0004a0009 | a0004c0004a0004c0025a0009c0012 | a0004c0004t0001a0004c0004t0006a0004c0025t0001others(1): Show | a0004c0004t0001g0005a0004c0004t0001g0008a0004c0004t0001g0020others(43): Show | 53 | 382 | 0.1387 | -3 | c.-15 others(14): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1329 | chr4 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122095581 | TAAA | T | intron_variant | MODIFIER | HG00544.hp2 NA18942.hp2 NA18956.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0043others(6): Show | 11 | 384 | 0.0287 | -3 | c.165 others(22): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 15/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122125790 | TTAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | -3 | c.472 others(18): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36944264 | TAAA | T | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0025a0001c0001t0001g0033a0001c0001t0001g0050others(3): Show | 6 | 245 | 0.0245 | -3 | c.-48 others(14): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4689 | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36972671 | ATTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0147a0001c0001t0001g0242a0001c0001t0002g0001others(27): Show | 31 | 245 | 0.1265 | -3 | c.833 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37002903 | GTTT | G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00639.hp2 others(29): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0096a0001c0001t0001g0147a0001c0001t0001g0242others(28): Show | 32 | 245 | 0.1306 | -3 | c.139 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37010463 | AATT | A | intron_variant | MODIFIER | HG00099.hp2 HG01981.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0224a0001c0001t0001g0227 | 3 | 245 | 0.0122 | -3 | c.139 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37014267 | GTAA | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(32): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0032a0001c0001t0001g0081a0001c0001t0001g0082others(31): Show | 35 | 245 | 0.1429 | -3 | c.139 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37025215 | TTTG | T | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG03098.hp1 |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0004a0003c0007t0001 | a0001c0003t0004g0045a0001c0003t0004g0046a0003c0007t0001g0094 | 3 | 245 | 0.0122 | -3 | c.154 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37043894 | GAGA | G | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG03579.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0037a0001c0003t0004g0044a0001c0003t0004g0047 | 3 | 245 | 0.0122 | -3 | c.161 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37057971 | CAGA | C | downstream_gene_variant | MODIFIER | HG02135.hp2 HG02293.hp2 HG03834.hp1 others(1): Show |
a0002a0005 | a0002c0004a0005c0008 | a0002c0004t0001a0005c0008t0001 | a0002c0004t0001g0099a0002c0004t0001g0100a0002c0004t0001g0102others(1): Show | 4 | 245 | 0.0163 | -3 | c.*13 others(14): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1101 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81128393 | TAGG | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(200): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0011others(37): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(189): Show | 203 | 368 | 0.5516 | -3 | c.414 others(16): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 4/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81138954 | CCCA | C | intron_variant | MODIFIER | HG01167.hp1 HG01255.hp2 HG01346.hp2 others(3): Show |
a0002a0004a0012others(1): Show | a0002c0002a0004c0005a0012c0016others(1): Show | a0002c0002t0001a0004c0005t0001a0012c0016t0001others(1): Show | a0002c0002t0001g0329a0002c0002t0001g0330a0004c0005t0001g0122others(3): Show | 6 | 368 | 0.0163 | -3 | c.56- others(18): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81141958 | TTCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01123.hp1 others(12): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0003c0003t0002a0004c0005t0001others(1): Show | a0002c0002t0001g0066a0002c0002t0001g0101a0002c0002t0001g0137others(12): Show | 15 | 368 | 0.0408 | -3 | c.56- others(18): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81145733 | CAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01255.hp2 HG01884.hp1 others(5): Show |
a0003a0005a0006others(4): Show | a0003c0027a0005c0021a0006c0042others(5): Show | a0003c0027t0001a0005c0021t0001a0006c0042t0011others(5): Show | a0003c0027t0001g0281a0005c0021t0001g0206a0006c0042t0011g0335others(5): Show | 8 | 368 | 0.0217 | -3 | c.56- others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81148906 | TGAG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(105): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0011others(28): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001others(31): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(96): Show | 108 | 368 | 0.2935 | -3 | c.56- others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81152620 | GAGA | G | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 HG02896.hp2 others(2): Show |
a0005a0006 | a0005c0006a0005c0021a0006c0013 | a0005c0006t0021a0005c0021t0001a0006c0013t0001 | a0005c0006t0021g0345a0005c0021t0001g0206a0006c0013t0001g0013others(1): Show | 5 | 368 | 0.0136 | -3 | c.55+ others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar |