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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKT3_chr1_243494724_243855243 | 243693242 | T | TTATATA | intron_variant | MODIFIER | HG00733.hp1 HG01261.hp2 HG01993.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0212a0001c0001t0001g0233a0001c0001t0001g0247others(10): Show | 13 | 301 | 0.0432 | 6 | c.172 others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243693243 | G | GATATAT | intron_variant | MODIFIER | HG02129.hp1 HG03669.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0129 | 3 | 301 | 0.0100 | 6 | c.172 others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243699465 | C | CTATATA | intron_variant | MODIFIER | HG02109.hp1 HG02135.hp1 HG02965.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0028others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0083a0001c0001t0001g0090others(7): Show | 10 | 301 | 0.0332 | 6 | c.47- others(21): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243778023 | C | CCATCTT | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG02155.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(3): Show | a0001c0001t0001g0214a0001c0001t0001g0216a0001c0001t0001g0223others(10): Show | 13 | 301 | 0.0432 | 6 | c.46+ others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243828065 | A | AAACAAC | intron_variant | MODIFIER | HG01071.hp2 HG01261.hp1 HG01884.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(2): Show | a0001c0001t0001g0207a0001c0001t0001g0213a0001c0001t0001g0218others(17): Show | 20 | 301 | 0.0665 | 6 | c.46+ others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243845588 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0142others(86): Show | 89 | 301 | 0.2957 | 6 | c.-11 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243850295 | A | AGGCGGC | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0225a0001c0001t0001g0239others(5): Show | 8 | 301 | 0.0266 | 6 | c.-37 others(15): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 53 | chr1 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113393389 | T | TCCCCAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0025a0001c0001t0001g0061others(44): Show | 78 | 446 | 0.1749 | 6 | c.113 others(19): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 2/11 | chr9 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113403517 | G | GAAAAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00741.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0001g0058others(23): Show | 33 | 446 | 0.0740 | 6 | c.-23 others(17): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 2234 | chr9 | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55023191 | G | GGTGTGT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 284 | 0.0070 | 6 | c.415 others(21): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 4/10 | chrX | TogoVar | ||||||
ALB_chr4_73399287_73426482 | 73409147 | G | GCACACA | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01109.hp2 others(19): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0005a0001c0001t0001g0035a0001c0001t0001g0064others(5): Show | 22 | 392 | 0.0561 | 6 | c.483 others(21): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105368223 | A | AAGAGAG | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01952.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0024a0001c0002t0003others(5): Show | a0001c0001t0001g0150a0001c0001t0024g0149a0001c0002t0003g0335others(6): Show | 9 | 378 | 0.0238 | 6 | c.73+ others(19): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105460997 | G | GGTGTGT | intron_variant | MODIFIER | HG01099.hp2 HG01981.hp1 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0017a0001c0002t0003g0094a0001c0002t0003g0095 | 3 | 378 | 0.0079 | 6 | c.74- others(23): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105485396 | T | TGTGTGC | intron_variant | MODIFIER | HG01070.hp1 HG01884.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0026a0001c0002t0027a0001c0003t0006others(4): Show | a0001c0001t0026g0323a0001c0002t0027g0325a0001c0003t0006g0321others(6): Show | 9 | 378 | 0.0238 | 6 | c.74- others(23): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105496827 | G | GGGGTGT | intron_variant | MODIFIER | HG02602.hp1 HG03492.hp1 HG04228.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0103a0001c0001t0001g0346a0001c0001t0001g0364others(2): Show | 5 | 378 | 0.0132 | 6 | c.74- others(23): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105578676 | A | AACACAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(92): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(11): Show | a0001c0001t0001g0020a0001c0001t0001g0053a0001c0001t0001g0061others(90): Show | 95 | 378 | 0.2513 | 6 | c.*42 others(17): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1777 | chr3 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95604064 | G | GGTGTGT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(64): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0017others(45): Show | 67 | 372 | 0.1801 | 6 | c.*26 others(17): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 1876 | chr10 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95609769 | A | ATTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(141): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(94): Show | 144 | 372 | 0.3871 | 6 | c.220 others(23): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 17/17 | chr10 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 57981289 | A | AACACAC | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01346.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0011 | a0001c0001t0001g0256a0002c0002t0002g0003a0002c0002t0002g0057others(22): Show | 26 | 326 | 0.0798 | 6 | c.798 others(25): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58004693 | T | TTGTGTG | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02004.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(2): Show | a0001c0001t0001g0218a0001c0001t0001g0232a0001c0001t0001g0257others(8): Show | 11 | 326 | 0.0337 | 6 | c.493 others(23): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 4/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58004730 | C | CATATAT | intron_variant | MODIFIER | HG02083.hp2 HG02135.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0233a0001c0001t0001g0240a0001c0001t0003g0206 | 3 | 326 | 0.0092 | 6 | c.493 others(23): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 4/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58061595 | C | CAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01346.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062a0002c0002t0002g0063a0002c0002t0002g0064others(7): Show | 10 | 326 | 0.0307 | 6 | c.117 others(23): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
ALDH1B1_chr9_38387702_38403661 | 38403556 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02280.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0008a0002c0003t0005a0002c0003t0009others(2): Show | a0001c0001t0008g0009a0002c0003t0005g0005a0002c0003t0009g0005others(3): Show | 10 | 484 | 0.0207 | 6 | c.*62 others(17): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 4896 | chr9 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126123635 | C | CAAAAAA | intron_variant | MODIFIER | HG01978.hp2 HG02109.hp1 HG02258.hp1 others(3): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0170a0003c0003t0001g0178a0004c0004t0001g0083others(3): Show | 6 | 338 | 0.0178 | 6 | c.188 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 16/22 | chr3 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126161934 | G | GATATAT | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02647.hp1 others(13): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0007a0003c0003others(9): Show | a0001c0001t0001a0001c0007t0001a0003c0003t0001others(9): Show | a0001c0001t0001g0137a0001c0007t0001g0138a0003c0003t0001g0049others(13): Show | 16 | 338 | 0.0473 | 6 | c.-23 others(21): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126178746 | T | TTGTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0001c0028others(4): Show | a0001c0001t0001a0001c0015t0001a0001c0028t0001others(4): Show | a0001c0001t0001g0086a0001c0001t0001g0090a0001c0001t0001g0091others(34): Show | 37 | 338 | 0.1095 | 6 | c.-24 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105035839 | A | ATGTGTG | intron_variant | MODIFIER | HG00642.hp2 HG02717.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0009a0001c0002t0010 | a0001c0001t0012g0010a0001c0002t0009g0015a0001c0002t0009g0056others(2): Show | 5 | 386 | 0.0130 | 6 | c.214 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046149 | T | TTCTCTC | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG01884.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0045others(11): Show | 14 | 386 | 0.0363 | 6 | c.186 others(23): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105064114 | C | CTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01496.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(5): Show | a0001c0001t0001g0116a0001c0001t0001g0213a0001c0001t0003g0097others(7): Show | 10 | 386 | 0.0259 | 6 | c.787 others(23): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 6/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105074457 | C | CAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG02257.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(2): Show | a0001c0001t0001g0050a0001c0001t0001g0074a0001c0001t0008g0051others(7): Show | 11 | 386 | 0.0285 | 6 | c.49- others(19): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105088569 | A | AAACAAC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(103): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(103): Show | 106 | 386 | 0.2746 | 6 | c.-41 others(17): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 4112 | chr12 | TogoVar | ||||||
ALDH2_chr12_111761933_111822532 | 111764982 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02080.hp2 HG02717.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0008 | a0001c0001t0003a0001c0001t0008a0001c0001t0021others(4): Show | a0001c0001t0003g0056a0001c0001t0008g0043a0001c0001t0008g0063others(6): Show | 9 | 342 | 0.0263 | 6 | c.-20 others(17): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1950 | chr12 | TogoVar | ||||||
ALDH3A1_chr17_19732989_19753298 | 19744901 | G | GCCCCCA | intron_variant | MODIFIER | NA18747.hp2 NA18970.hp2 NA19010.hp2 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0019a0004c0006t0001g0055 | 5 | 424 | 0.0118 | 6 | c.162 others(19): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 2/10 | chr17 | TogoVar | ||||||
ALDH3A1_chr17_19732989_19753298 | 19744901 | G | GCCCCCC | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG02071.hp1 others(13): Show |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0013 | a0001c0001t0001a0002c0004t0003a0006c0013t0003 | a0001c0001t0001g0124a0002c0004t0003g0010a0002c0004t0003g0044others(6): Show | 16 | 424 | 0.0377 | 6 | c.162 others(19): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 2/10 | chr17 | TogoVar | ||||||
ALDH3A2_chr17_19643751_19682596 | 19665376 | C | CGTGTGT | intron_variant | MODIFIER | HG01192.hp2 HG02080.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0055a0001c0001t0003g0093a0001c0002t0003g0102others(1): Show | 4 | 366 | 0.0109 | 6 | c.120 others(23): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALDH3A2_chr17_19643751_19682596 | 19682329 | T | TCACACA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(21): Show | 41 | 366 | 0.1120 | 6 | c.*67 others(17): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 4734 | chr17 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672042 | C | CATATAT | intron_variant | MODIFIER | HG01257.hp1 HG01884.hp2 HG02615.hp2 others(4): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0014 | a0001c0001t0001a0001c0001t0004a0004c0004t0003others(1): Show | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0004g0193others(3): Show | 7 | 390 | 0.0180 | 6 | c.-24 others(25): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672085 | A | ATATATG | intron_variant | MODIFIER | HG01496.hp2 HG02559.hp2 HG02895.hp2 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0007a0001c0011others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0011t0001others(2): Show | a0001c0001t0001g0053a0001c0007t0001g0057a0001c0011t0001g0058others(2): Show | 7 | 390 | 0.0180 | 6 | c.-24 others(25): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24499976 | C | CTGTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(100): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0015a0003c0003others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0073a0002c0002t0001g0075a0002c0002t0001g0080others(98): Show | 103 | 368 | 0.2799 | 6 | c.355 others(23): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24500647 | A | AAATAAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(116): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(111): Show | 119 | 368 | 0.3234 | 6 | c.355 others(23): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24526974 | G | GTATATA | intron_variant | MODIFIER | HG02602.hp2 NA19056.hp1 NA21309.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0122a0003c0003t0001g0017a0003c0003t0001g0048 | 3 | 368 | 0.0082 | 6 | c.117 others(23): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH6A1_chr14_74051847_74089453 | 74070668 | T | TTGACGG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(288): Show |
a0000a0001a0003others(2): Show | a0000c0008a0001c0001a0001c0002others(5): Show | a0000c0008t0033a0001c0001t0001a0001c0001t0002others(49): Show | a0000c0008t0033g0277a0001c0001t0001g0002a0001c0001t0001g0008others(222): Show | 291 | 402 | 0.7239 | 6 | c.730 others(21): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 6/11 | chr14 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126593308 | A | AACACAC | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(8): Show | a0001c0001t0002g0329a0001c0001t0007g0330a0001c0001t0010g0331others(13): Show | 16 | 380 | 0.0421 | 6 | c.246 others(19): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 2/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126593314 | C | CACACAA | intron_variant | MODIFIER | HG02027.hp2 HG02074.hp2 HG02129.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0009a0001c0001t0013a0001c0004t0001others(7): Show | a0001c0001t0009g0297a0001c0001t0013g0296a0001c0004t0001g0114others(11): Show | 14 | 380 | 0.0368 | 6 | c.246 others(19): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 2/17 | chr5 | TogoVar | ||||||
ALDH8A1_chr6_134912393_134955101 | 134938623 | T | TTTATTA | intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG02970.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0005 | a0002c0003t0002g0043a0002c0003t0002g0202a0002c0003t0005g0199others(1): Show | 5 | 370 | 0.0135 | 6 | c.592 others(21): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
ALDH9A1_chr1_165657216_165703562 | 165672972 | A | AACACAC | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02486.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0052a0001c0001t0001g0092others(12): Show | 16 | 332 | 0.0482 | 6 | c.931 others(23): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38333755 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02145.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0007a0001c0001t0012g0014a0001c0002t0002g0003 | 5 | 452 | 0.0111 | 6 | c.*12 others(19): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4035 | chr12 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38333759 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(66): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0001a0001c0001t0004g0002a0001c0001t0005g0002others(12): Show | 69 | 452 | 0.1527 | 6 | c.*12 others(19): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4039 | chr12 | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111744725 | T | TACCACC | disruptive_inframe_insertion | MODERATE | HG02258.hp1 HG06807.hp2 NA20300.hp1 |
a0004 | a0004c0008a0004c0010 | a0004c0008t0001a0004c0010t0001 | a0004c0008t0001g0017a0004c0008t0001g0018a0004c0010t0001g0046 | 3 | 191 | 0.0157 | 6 | c.279 others(15): Show |
p.Pro others(13): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 24/27 | 2848/4113 | 2799/3414 | 933/1137 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ALG13_chrX_111676170_111765649 | 111761655 | C | CTTGGCT | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 191 | 0.0052 | 6 | c.*16 others(17): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 1007 | chrX | TogoVar |