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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1CF_chr10_50794409_50890627 | 50865232 | C | CTGGG | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 a0001c0001t0008g0102 |
4 | 336 | 0.0119 | 4 | c.-93 others(21): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8832979 | C | CTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02055.hp1 others(16): Show |
a0001a0003a0007others(4): Show | a0001c0003a0003c0009a0003c0053others(6): Show | a0001c0003t0001a0003c0009t0004a0003c0053t0002others(8): Show | a0001c0003t0001g0239 a0003c0009t0004g0214 a0003c0009t0004g0236 others(16): Show |
19 | 43 | 0.4419 | 4 | c.463 others(21): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8841013 | C | CGGAA | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(13): Show |
a0003a0007a0011others(3): Show | a0003c0022a0007c0011a0007c0015others(4): Show | a0003c0022t0001a0003c0022t0004a0007c0011t0002others(7): Show | a0003c0022t0001g0220 a0003c0022t0004g0218 a0007c0011t0002g0043 others(13): Show |
16 | 41 | 0.3902 | 4 | c.108 others(21): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8868457 | C | CGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(220): Show |
a0001a0002a0004others(16): Show | a0001c0001a0001c0003a0001c0031others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 others(216): Show |
223 | 319 | 0.6991 | 4 | c.406 others(19): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 31/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8878303 | C | CTAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG03139.hp2 NA18960.hp2 |
a0001a0009 | a0001c0001a0001c0003a0009c0013 | a0001c0001t0006a0001c0003t0003a0009c0013t0006 | a0001c0001t0006g0015 a0001c0003t0003g0267 a0009c0013t0006g0198 |
3 | 366 | 0.0082 | 4 | c.*22 others(15): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 1517 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9087242 | A | ATGTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0011others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 others(111): Show |
137 | 330 | 0.4152 | 4 | c.277 others(23): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9093891 | T | TCAAA | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0088 a0001c0001t0002g0089 others(4): Show |
9 | 276 | 0.0326 | 4 | c.212 others(21): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9094340 | C | CATAT | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG00735.hp2 others(26): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0150 a0001c0001t0001g0154 others(25): Show |
29 | 114 | 0.2544 | 4 | c.212 others(21): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9098449 | T | TATAA | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0088 a0001c0001t0002g0089 others(4): Show |
9 | 87 | 0.1034 | 4 | c.185 others(21): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9100427 | C | CTTAT | intron_variant | MODIFIER | HG01169.hp1 HG01361.hp2 HG02056.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0169 a0001c0001t0002g0051 a0002c0002t0002g0127 |
3 | 326 | 0.0092 | 4 | c.155 others(21): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 13/35 | chr12 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33324199 | C | CTGTT | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 416 | 0.0096 | 4 | c.-31 others(15): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 3102 | chr1 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42690828 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01192.hp2 others(8): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0001a0002c0008t0001 | a0002c0003t0001g0127 a0002c0003t0001g0160 a0002c0003t0001g0244 others(8): Show |
11 | 243 | 0.0453 | 4 | c.*20 others(15): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1292 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(62): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0157 others(59): Show |
65 | 76 | 0.8553 | 4 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42706354 | C | CAAAA | intron_variant | MODIFIER | HG02056.hp1 HG02074.hp2 HG02135.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0002a0001c0002t0006a0001c0009t0013others(2): Show | a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0183 others(10): Show |
13 | 122 | 0.1066 | 4 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42708545 | A | AGAAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 others(41): Show |
45 | 118 | 0.3814 | 4 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42709048 | A | AATAT | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0009a0002c0003 | a0001c0009t0013a0002c0003t0001 | a0001c0009t0013g0362 a0002c0003t0001g0384 a0002c0003t0001g0385 others(2): Show |
5 | 363 | 0.0138 | 4 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42710697 | G | GAAAT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0005others(12): Show | a0001c0001t0002g0117 a0001c0001t0002g0235 a0001c0001t0002g0242 others(72): Show |
77 | 191 | 0.4031 | 4 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42714274 | C | CAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0004g0239 others(39): Show |
43 | 166 | 0.2590 | 4 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | ATTTT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01261.hp1 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0005others(5): Show | a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0250 others(16): Show |
20 | 83 | 0.2410 | 4 | c.-16 others(15): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138119702 | T | TTTTA | downstream_gene_variant | MODIFIER | NA18612.hp1 NA19003.hp2 NA19091.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0004 a0001c0003t0003g0056 |
3 | 396 | 0.0076 | 4 | c.*45 others(15): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 4010 | chr3 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53312785 | G | GTATA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0047 a0002c0004t0001g0147 a0002c0004t0002g0023 others(1): Show |
6 | 326 | 0.0184 | 4 | c.689 others(21): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53318249 | T | TGTGC | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0069 a0001c0001t0001g0130 others(4): Show |
10 | 306 | 0.0327 | 4 | c.251 others(21): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125062916 | C | CGTGT | upstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02145.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0091 a0001c0001t0002g0049 a0001c0001t0002g0064 others(14): Show |
17 | 82 | 0.2073 | 4 | c.-26 others(15): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125080470 | G | GTCTC | intron_variant | MODIFIER | NA18939.hp2 NA18944.hp2 NA18951.hp1 others(3): Show |
a0002a0008 | a0002c0002a0008c0023 | a0002c0002t0001a0008c0023t0003 | a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0133 others(3): Show |
6 | 280 | 0.0214 | 4 | c.358 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTAAA | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01884.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0097 a0001c0001t0001g0159 a0002c0002t0001g0013 others(6): Show |
9 | 204 | 0.0441 | 4 | c.571 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00738.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0192 a0001c0001t0001g0280 others(30): Show |
33 | 49 | 0.6735 | 4 | c.767 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151731938 | G | GAGAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(100): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0002g0001 others(31): Show |
103 | 196 | 0.5255 | 4 | c.-20 others(15): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1988 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151747618 | T | TTGTG | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0029 a0001c0001t0023g0147 |
4 | 301 | 0.0133 | 4 | c.603 others(21): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761204 | G | GATAT | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00738.hp1 others(37): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0097 a0001c0001t0004g0006 others(22): Show |
40 | 108 | 0.3704 | 4 | c.*36 others(15): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3649 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12645245 | T | TCCTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(47): Show |
65 | 283 | 0.2297 | 4 | c.168 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12648346 | A | ATCCT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(73): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(64): Show |
76 | 249 | 0.3052 | 4 | c.169 others(21): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12651828 | A | ATTTT | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0058 a0001c0001t0001g0252 a0001c0001t0001g0259 others(8): Show |
11 | 262 | 0.0420 | 4 | c.385 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658033 | T | TTTCC | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01099.hp1 others(30): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0028 others(25): Show |
33 | 282 | 0.1170 | 4 | c.386 others(21): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658108 | T | TTTCC | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00621.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0088 a0001c0001t0001g0113 others(15): Show |
19 | 162 | 0.1173 | 4 | c.386 others(21): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658139 | C | CCTTT | intron_variant | MODIFIER | HG00438.hp2 HG02074.hp1 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0125 a0001c0001t0001g0172 others(1): Show |
5 | 248 | 0.0202 | 4 | c.386 others(21): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151819118 | T | TAGAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(71): Show |
218 | 438 | 0.4977 | 4 | c.362 others(21): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151820516 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(136): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(37): Show |
139 | 274 | 0.5073 | 4 | c.431 others(17): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151828897 | A | AAAAT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(295): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(100): Show |
298 | 438 | 0.6804 | 4 | c.*72 others(13): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 410 | chr3 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151830282 | C | CACAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(255): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(83): Show |
258 | 438 | 0.5890 | 4 | c.*21 others(15): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1795 | chr3 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151831382 | T | TACAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(75): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0021 a0001c0001t0002g0087 a0002c0002t0001g0001 others(13): Show |
78 | 97 | 0.8041 | 4 | c.*32 others(15): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151831382 | T | TATAC | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01109.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0018 others(8): Show |
26 | 45 | 0.5778 | 4 | c.*32 others(15): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170056457 | T | TACAC | downstream_gene_variant | MODIFIER | HG01358.hp2 HG04184.hp2 NA18981.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0002t0001g0011 others(2): Show |
5 | 275 | 0.0182 | 4 | c.*44 others(15): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3764 | chr4 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170072299 | G | GTATA | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0087 others(2): Show |
10 | 269 | 0.0372 | 4 | c.654 others(19): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67195693 | G | GTAAC | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 |
3 | 378 | 0.0079 | 4 | c.*71 others(15): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4973 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222230 | A | ACGCG | intron_variant | MODIFIER | HG01255.hp1 NA18941.hp2 NA18950.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0002 | a0001c0001t0002g0007 a0001c0001t0004g0029 a0001c0001t0004g0220 others(4): Show |
7 | 337 | 0.0208 | 4 | c.535 others(21): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCA | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01981.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0048 others(13): Show |
17 | 260 | 0.0654 | 4 | c.535 others(21): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67238698 | A | ATTTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(111): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 others(89): Show |
114 | 362 | 0.3149 | 4 | c.74- others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67241040 | T | TACAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(47): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0240 a0001c0001t0001g0241 others(43): Show |
50 | 56 | 0.8929 | 4 | c.74- others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67251236 | C | CTGTG | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01928.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0027 a0002c0002t0003g0192 a0002c0002t0003g0205 |
4 | 255 | 0.0157 | 4 | c.73+ others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69458707 | G | GCACA | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01074.hp2 others(19): Show |
a0001a0003a0005others(1): Show | a0001c0004a0001c0008a0003c0014others(2): Show | a0001c0004t0009a0001c0004t0017a0001c0004t0063others(12): Show | a0001c0004t0009g0124 a0001c0004t0009g0147 a0001c0004t0009g0156 others(19): Show |
22 | 280 | 0.0786 | 4 | c.*17 others(17): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 17161 | chr2 | TogoVar |