view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105641214 | CTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01069.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0082 others(58): Show |
61 | 252 | 0.2421 | -3 | c.862 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105648236 | AAGG | A | intron_variant | MODIFIER | HG01346.hp2 HG02015.hp1 HG02027.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0044 a0001c0001t0002g0021 a0001c0001t0002g0042 others(18): Show |
21 | 252 | 0.0833 | -3 | c.579 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105662078 | CCTT | C | intron_variant | MODIFIER | HG02300.hp2 NA18970.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0082 a0001c0001t0011g0012 a0001c0001t0011g0157 others(1): Show |
4 | 252 | 0.0159 | -3 | c.578 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105671889 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(146): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0026 others(146): Show |
149 | 252 | 0.5913 | -3 | c.356 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105685044 | GATA | G | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp2 HG01081.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0181 others(30): Show |
33 | 252 | 0.1310 | -3 | c.356 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105693581 | ATCT | A | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01069.hp1 others(63): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(63): Show |
66 | 252 | 0.2619 | -3 | c.356 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | TAAA | T | intron_variant | MODIFIER | HG01167.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0006g0197 a0001c0001t0007g0218 a0001c0001t0012g0232 others(2): Show |
5 | 252 | 0.0198 | -3 | c.356 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105749113 | ACTG | A | intron_variant | MODIFIER | HG01261.hp2 HG02602.hp1 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0019others(1): Show | a0001c0001t0002g0142 a0001c0001t0012g0064 a0001c0001t0019g0063 others(1): Show |
4 | 252 | 0.0159 | -3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105750808 | AAAC | A | intron_variant | MODIFIER | HG01433.hp2 HG01496.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0010 a0001c0001t0002g0231 a0001c0001t0008g0175 |
3 | 252 | 0.0119 | -3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105758034 | GTTC | G | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0106 a0001c0001t0002g0021 others(53): Show |
56 | 252 | 0.2222 | -3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | GATA | G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00738.hp1 others(23): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0108 others(23): Show |
26 | 252 | 0.1032 | -3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105772063 | ATTT | A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01346.hp1 others(25): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0088 a0001c0001t0002g0002 others(25): Show |
28 | 252 | 0.1111 | -3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105781659 | CTTT | C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01346.hp1 others(30): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0088 a0001c0001t0002g0002 others(30): Show |
33 | 252 | 0.1310 | -3 | c.355 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105854530 | GAAA | G | intron_variant | MODIFIER | HG02056.hp1 HG02135.hp1 NA18989.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0102 a0001c0001t0002g0021 a0001c0001t0004g0246 others(5): Show |
8 | 252 | 0.0318 | -3 | c.250 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L2_chr1_109478905_109497734 | 109493511 | TGAG | T | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02970.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 4 | 332 | 0.0121 | -3 | c.*91 others(12): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 778 | chr1 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74535324 | CAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(11): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0015g0000 others(11): Show |
21 | 408 | 0.0515 | -3 | c.-27 others(14): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 2510 | chr12 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536075 | TAAA | T | upstream_gene_variant | MODIFIER | HG02698.hp2 NA18939.hp2 NA18944.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0017 | a0001c0001t0001g0000 a0001c0001t0007g0000 a0001c0001t0017g0000 |
9 | 408 | 0.0221 | -3 | c.-20 others(14): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1759 | chr12 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | CTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0026others(2): Show | a0001c0001t0001g0000 a0001c0001t0007g0000 a0001c0001t0026g0000 others(2): Show |
13 | 408 | 0.0319 | -3 | c.-14 others(14): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74542857 | CACA | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01175.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0009a0001c0002t0044others(2): Show | a0001c0002t0006g0000 a0001c0002t0009g0000 a0001c0002t0044g0000 others(2): Show |
20 | 408 | 0.0490 | -3 | c.*44 others(14): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 4456 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATXN7L3B_chr12_74532835_74550430 | 74543656 | ACAT | A | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0077a0001c0001t0078 | a0001c0001t0030g0000 a0001c0001t0077g0000 a0001c0001t0078g0000 |
4 | 408 | 0.0098 | -3 | c.*52 others(14): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 5253 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATXN7L3_chr17_44186805_44204884 | 44190981 | TCTC | T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01255.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
4 | 380 | 0.0105 | -3 | c.*32 others(14): Show |
ATXN7L3 | ENSG00000087152.16 | transcript | ENST00000587097.6 | protein_coding | 823 | chr17 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63900091 | GCAA | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(47): Show |
a0003a0009a0013others(4): Show | a0003c0004a0003c0005a0003c0027others(8): Show | a0003c0004t0003a0003c0004t0022a0003c0004t0023others(14): Show | a0003c0004t0003g0158 a0003c0004t0003g0168 a0003c0004t0003g0169 others(47): Show |
50 | 300 | 0.1667 | -3 | c.-12 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63905007 | TTTG | T | intron_variant | MODIFIER | HG00423.hp2 HG02523.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0077 |
3 | 300 | 0.0100 | -3 | c.-12 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63905396 | AGAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(102): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0003others(12): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(30): Show | a0001c0001t0002g0225 a0001c0001t0005g0213 a0001c0001t0005g0215 others(101): Show |
105 | 300 | 0.3500 | -3 | c.-12 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63911236 | AAGT | A | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 HG03209.hp2 others(1): Show |
a0002a0010 | a0002c0002a0010c0014 | a0002c0002t0013a0010c0014t0025a0010c0014t0046 | a0002c0002t0013g0011 a0010c0014t0025g0007 a0010c0014t0025g0008 others(1): Show |
4 | 300 | 0.0133 | -3 | c.-11 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | chr3 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63912684 | GGCA | G | disruptive_inframe_deletion | MODERATE | HG02723.hp2 HG03471.hp2 HG03486.hp2 others(2): Show |
a0008a0018 | a0008c0011a0018c0037 | a0008c0011t0014a0018c0037t0052 | a0008c0011t0014g0019 a0008c0011t0014g0028 a0008c0011t0014g0029 others(2): Show |
5 | 300 | 0.0167 | -3 | c.116 others(10): Show |
p.Gln others(5): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 518/7076 | 116/2679 | 39/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ATXN7_chr3_63858867_64008462 | 63920660 | GTTC | G | intron_variant | MODIFIER | HG00735.hp1 HG01934.hp2 HG02145.hp1 others(10): Show |
a0004 | a0004c0006a0004c0029 | a0004c0006t0004a0004c0006t0024a0004c0006t0027others(1): Show | a0004c0006t0004g0003 a0004c0006t0004g0125 a0004c0006t0004g0132 others(9): Show |
13 | 300 | 0.0433 | -3 | c.394 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63920882 | ATTG | A | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG02486.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0042a0002c0002t0043others(2): Show | a0002c0002t0018g0140 a0002c0002t0018g0143 a0002c0002t0018g0144 others(4): Show |
7 | 300 | 0.0233 | -3 | c.394 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63945548 | CCTT | C | intron_variant | MODIFIER | NA18941.hp2 NA18968.hp2 NA18985.hp2 |
a0015a0019 | a0015c0018a0019c0041 | a0015c0018t0001a0019c0041t0001 | a0015c0018t0001g0025 a0015c0018t0001g0060 a0019c0041t0001g0035 |
3 | 300 | 0.0100 | -3 | c.395 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63982793 | CGTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(47): Show |
a0003a0009a0013others(4): Show | a0003c0004a0003c0005a0003c0027others(8): Show | a0003c0004t0003a0003c0004t0022a0003c0004t0023others(14): Show | a0003c0004t0003g0158 a0003c0004t0003g0168 a0003c0004t0003g0169 others(47): Show |
50 | 300 | 0.1667 | -3 | c.101 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63996617 | TAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(67): Show |
a0002a0003a0004others(7): Show | a0002c0003a0002c0032a0003c0004others(16): Show | a0002c0003t0002a0002c0003t0015a0002c0032t0045others(26): Show | a0002c0003t0002g0254 a0002c0003t0002g0279 a0002c0003t0002g0294 others(66): Show |
70 | 300 | 0.2333 | -3 | c.266 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91211785 | CATT | C | downstream_gene_variant | MODIFIER | HG02300.hp2 HG03098.hp1 HG03209.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0009 a0001c0001t0001g0120 a0001c0002t0001g0261 others(4): Show |
7 | 358 | 0.0196 | -3 | c.*25 others(14): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 2037 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91214646 | GTTA | G | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 HG02976.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0277 a0001c0001t0001g0278 others(7): Show |
10 | 358 | 0.0279 | -3 | c.943 others(18): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91226210 | CTGT | C | intron_variant | MODIFIER | HG01109.hp2 HG03098.hp2 NA18995.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0002t0001g0268 |
3 | 358 | 0.0084 | -3 | c.656 others(20): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91249292 | CAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01109.hp2 others(44): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0067 others(43): Show |
47 | 358 | 0.1313 | -3 | c.656 others(22): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91279119 | TTAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0001g0067 others(22): Show |
26 | 358 | 0.0726 | -3 | c.655 others(22): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91289772 | ATCT | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0001g0067 others(23): Show |
27 | 358 | 0.0754 | -3 | c.655 others(20): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91290186 | CAGG | C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01081.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 others(44): Show |
47 | 358 | 0.1313 | -3 | c.655 others(20): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91291922 | CAAA | C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00639.hp2 others(51): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0082 a0001c0001t0001g0097 others(50): Show |
54 | 358 | 0.1508 | -3 | c.655 others(20): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91353820 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0056 others(39): Show |
43 | 358 | 0.1201 | -3 | c.418 others(20): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25843594 | GAAA | G | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG02145.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(4): Show | a0001c0001t0004g0217 a0001c0001t0006g0207 a0001c0001t0006g0209 others(10): Show |
16 | 352 | 0.0455 | -3 | c.79- others(18): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25843621 | AAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02486.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0008 a0001c0001t0005g0195 a0001c0001t0005g0197 others(8): Show |
14 | 352 | 0.0398 | -3 | c.79- others(18): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AUP1_chr2_74521652_74534706 | 74523086 | GTTT | G | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0017 |
6 | 388 | 0.0155 | -3 | c.*37 others(14): Show |
AUP1 | ENSG00000115307.17 | transcript | ENST00000377526.4 | protein_coding | 3565 | chr2 | TogoVar | |||||||
AURKAIP1_chr1_1368736_1380207 | 1370553 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(175): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
178 | 358 | 0.4972 | -3 | c.*32 others(14): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 3182 | chr1 | TogoVar | |||||||
AURKA_chr20_56364390_56397215 | 56372533 | TAAA | T | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0052 a0001c0001t0002g0184 a0001c0001t0002g0189 others(5): Show |
9 | 384 | 0.0234 | -3 | c.854 others(18): Show |
AURKA | ENSG00000087586.18 | transcript | ENST00000395915.8 | protein_coding | 7/8 | chr20 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57234053 | CTTT | C | intron_variant | MODIFIER | HG01192.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0004t0001 | a0001c0001t0001g0016 a0001c0001t0007g0035 a0001c0004t0001g0015 others(1): Show |
8 | 410 | 0.0195 | -3 | c.584 others(18): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69614371 | TAAG | T | intron_variant | MODIFIER | HG03139.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0017 | a0001c0001t0002g0047 a0001c0010t0017g0046 |
2 | 76 | 0.0263 | -3 | c.309 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69623381 | ATTT | A | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0005a0001c0005t0030a0002c0002t0031others(1): Show | a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0005t0030g0013 others(2): Show |
5 | 76 | 0.0658 | -3 | c.309 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69655385 | TTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0047 others(46): Show |
49 | 76 | 0.6447 | -3 | c.309 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69759770 | GCCC | G | intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG01952.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0002g0067 others(9): Show |
12 | 76 | 0.1579 | -3 | c.310 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |