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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKR1C8_chr10_5148920_5190150 | 5156525 | G | GATCTATC others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02976.hp2 HG06807.hp2 |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0001a0004c0005t0001 | a0002c0003t0001g0223 a0004c0005t0001g0091 a0004c0005t0001g0093 |
3 | 323 | 0.0093 | 8 | c.856 others(23): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
AKR1D1_chr7_138071459_138123305 | 138101187 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0039a0001c0001t0040 | a0001c0001t0004g0119 a0001c0001t0039g0351 a0001c0001t0040g0120 |
3 | 368 | 0.0082 | 8 | c.456 others(25): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138101191 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0063 | a0001c0001t0020g0304 a0001c0001t0020g0305 a0001c0001t0063g0250 |
3 | 337 | 0.0089 | 8 | c.456 others(25): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1E2_chr10_4821207_4853062 | 4826287 | T | TGCGGGGC others(1): Show |
5_prime_UTR_variant | MODIFIER | HG02155.hp2 HG02280.hp2 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0012 | a0001c0001t0010g0026 a0002c0002t0012g0015 |
3 | 351 | 0.0085 | 8 | c.-19 others(15): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1/10 | 11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR7A2_chr1_19298965_19317144 | 19316353 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02615.hp1 HG03017.hp1 others(1): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0008 a0001c0001t0001g0082 a0001c0001t0001g0084 others(1): Show |
4 | 136 | 0.0294 | 8 | c.-42 others(19): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 4210 | chr1 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40257586 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02080.hp2 HG02129.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0237 others(6): Show |
9 | 40 | 0.2250 | 8 | c.47- others(21): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 2/13 | chr19 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40290248 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0124 a0001c0001t0001g0126 others(76): Show |
80 | 91 | 0.8791 | 8 | c.-51 others(19): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4904 | chr19 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243523260 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0050 a0001c0001t0001g0084 a0001c0001t0001g0101 others(10): Show |
13 | 75 | 0.1733 | 8 | c.125 others(29): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243525768 | T | TAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 others(31): Show |
34 | 129 | 0.2636 | 8 | c.125 others(29): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243526778 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02109.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0032 | a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0099 others(2): Show |
5 | 16 | 0.3125 | 8 | c.125 others(29): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243609334 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00621.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 others(40): Show |
43 | 56 | 0.7679 | 8 | c.696 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 8/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243686630 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01123.hp1 HG01123.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0245 others(10): Show |
13 | 232 | 0.0560 | 8 | c.172 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243693242 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02004.hp1 HG02080.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0149 others(12): Show |
15 | 121 | 0.1240 | 8 | c.172 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243693243 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18970.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0084 |
3 | 137 | 0.0219 | 8 | c.172 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243699465 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02895.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088 a0001c0001t0001g0203 a0001c0001t0001g0206 others(1): Show |
4 | 22 | 0.1818 | 8 | c.47- others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243845588 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0077 others(91): Show |
94 | 190 | 0.4947 | 8 | c.-11 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113381412 | C | CCTCTCTC others(1): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA18979.hp2 NA19012.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0002c0004t0006 | a0001c0001t0001g0272 a0001c0001t0005g0302 a0002c0004t0006g0166 |
3 | 81 | 0.0370 | 8 | c.*68 others(19): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 4899 | chr9 | TogoVar | |||||||
ALAS1_chr3_52193160_52219327 | 52193983 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 HG02027.hp2 HG02273.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0004g0053 others(2): Show |
7 | 89 | 0.0787 | 8 | c.-44 others(19): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4176 | chr3 | TogoVar | |||||||
ALAS2_chrX_55004055_55035977 | 55023191 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0002g0077 others(1): Show |
4 | 257 | 0.0156 | 8 | c.415 others(23): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 4/10 | chrX | TogoVar | |||||||
ALB_chr4_73399287_73426482 | 73409147 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01981.hp1 HG02004.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0006t0001g0067 |
4 | 265 | 0.0151 | 8 | c.483 others(23): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105368223 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02155.hp2 HG02451.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(5): Show | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0004g0167 others(16): Show |
19 | 59 | 0.3220 | 8 | c.73+ others(21): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105470132 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 a0001c0002t0003g0339 a0001c0002t0003g0344 |
4 | 196 | 0.0204 | 8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105480351 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18967.hp1 NA18973.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0047 others(2): Show |
5 | 300 | 0.0167 | 8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105486957 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01884.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0026a0001c0002t0027a0001c0003t0006others(3): Show | a0001c0001t0026g0323 a0001c0002t0027g0325 a0001c0003t0006g0321 others(5): Show |
8 | 149 | 0.0537 | 8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105496827 | G | GGGGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02698.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0089 a0001c0001t0001g0091 others(25): Show |
28 | 339 | 0.0826 | 8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105563667 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02055.hp2 HG02572.hp1 others(9): Show |
a0001a0006 | a0001c0002a0006c0013 | a0001c0002t0001a0001c0002t0009a0006c0013t0001 | a0001c0002t0001g0082 a0001c0002t0001g0104 a0001c0002t0001g0106 others(9): Show |
12 | 16 | 0.7500 | 8 | c.166 others(27): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105578676 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0003t0006a0001c0003t0025others(4): Show | a0001c0001t0001g0061 a0001c0001t0001g0179 a0001c0001t0001g0180 others(10): Show |
13 | 78 | 0.1667 | 8 | c.*42 others(19): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1777 | chr3 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49454031 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02738.hp1 HG03209.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0004a0001c0005t0002a0002c0002t0001others(2): Show | a0001c0001t0004g0019 a0001c0005t0002g0006 a0001c0005t0002g0035 others(8): Show |
11 | 158 | 0.0696 | 8 | c.90+ others(21): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 57969814 | C | CGTACTCG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0020others(2): Show | a0002c0002t0002g0004 a0002c0002t0002g0062 a0002c0002t0002g0063 others(26): Show |
30 | 324 | 0.0926 | 8 | c.799 others(25): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 57981289 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01952.hp2 HG02004.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0010 | a0001c0001t0001g0296 a0002c0002t0002g0064 a0002c0002t0002g0069 others(10): Show |
13 | 138 | 0.0942 | 8 | c.798 others(27): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 58004693 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp2 others(49): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(3): Show | a0002c0002t0002g0057 a0002c0002t0002g0059 a0002c0002t0002g0065 others(49): Show |
52 | 154 | 0.3377 | 8 | c.493 others(25): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 4/12 | chr15 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 58036356 | T | TAATGACA others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 others(1): Show |
4 | 324 | 0.0123 | 8 | c.118 others(27): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 58061595 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01243.hp1 HG01361.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0010others(2): Show | a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 others(25): Show |
28 | 264 | 0.1061 | 8 | c.117 others(25): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126161934 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02647.hp2 HG02818.hp2 others(7): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0030a0001c0031others(4): Show | a0001c0001t0001a0001c0030t0001a0001c0031t0001others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0030t0001g0036 others(6): Show |
10 | 166 | 0.0602 | 8 | c.-23 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126174176 | T | TTACAGGC others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01975.hp2 HG02273.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 others(6): Show |
9 | 336 | 0.0268 | 8 | c.-24 others(25): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126179498 | T | TCAAACAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(102): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0007a0001c0015others(21): Show | a0001c0001t0001a0001c0007t0001a0001c0015t0001others(21): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0051 others(97): Show |
105 | 321 | 0.3271 | 8 | c.-24 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105035839 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01255.hp1 HG01256.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0011a0001c0002t0010a0001c0010t0007others(1): Show | a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0260 others(8): Show |
11 | 227 | 0.0485 | 8 | c.214 others(27): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105046149 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01361.hp1 HG03453.hp2 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0177 a0001c0001t0001g0180 others(7): Show |
11 | 311 | 0.0354 | 8 | c.186 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105046193 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18986.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0252 a0001c0001t0001g0267 |
3 | 283 | 0.0106 | 8 | c.186 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105046193 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02083.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0003g0268 a0001c0001t0006g0335 a0001c0001t0008g0226 others(1): Show |
4 | 284 | 0.0141 | 8 | c.186 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | |||||||
ALDH2_chr12_111761933_111822532 | 111764982 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02486.hp2 HG02523.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0031others(2): Show | a0001c0001t0008g0093 a0001c0001t0012g0050 a0001c0001t0031g0066 others(2): Show |
5 | 77 | 0.0649 | 8 | c.-20 others(19): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1950 | chr12 | TogoVar | |||||||
ALDH2_chr12_111761933_111822532 | 111782896 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02257.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0017a0001c0001t0025a0001c0001t0038others(3): Show | a0001c0001t0017g0035 a0001c0001t0017g0038 a0001c0001t0025g0036 others(5): Show |
8 | 340 | 0.0235 | 8 | c.220 others(23): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ALDH3A2_chr17_19643751_19682596 | 19665376 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0047 a0001c0002t0003g0112 a0001c0002t0003g0113 others(1): Show |
4 | 189 | 0.0212 | 8 | c.120 others(25): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALDH3A2_chr17_19643751_19682596 | 19682329 | T | TCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02074.hp2 HG03490.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0040 others(7): Show |
15 | 103 | 0.1456 | 8 | c.*67 others(19): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 4734 | chr17 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67672042 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02145.hp2 NA19055.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0003 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0003c0004t0003g0183 |
3 | 79 | 0.0380 | 8 | c.-24 others(27): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67672085 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG03130.hp1 others(2): Show |
a0001a0002a0007 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0011t0001g0055 others(2): Show |
5 | 71 | 0.0704 | 8 | c.-24 others(27): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ALDH4A1_chr1_18866430_18907555 | 18876661 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01106.hp1 others(3): Show |
a0001a0002a0014 | a0001c0003a0002c0008a0002c0009others(2): Show | a0001c0003t0002a0002c0008t0031a0002c0009t0010others(2): Show | a0001c0003t0002g0161 a0002c0008t0031g0332 a0002c0009t0010g0197 others(2): Show |
6 | 14 | 0.4286 | 8 | c.118 others(25): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 11/14 | chr1 | TogoVar | |||||||
ALDH4A1_chr1_18866430_18907555 | 18881651 | G | GGGTTGCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(397): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(333): Show |
400 | 404 | 0.9901 | 8 | c.866 others(21): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 8/14 | chr1 | TogoVar | |||||||
ALDH4A1_chr1_18866430_18907555 | 18906055 | G | GAGGCAGG others(1): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02723.hp1 HG03195.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0033a0002c0008t0031a0002c0008t0032 | a0001c0001t0033g0331 a0002c0008t0031g0332 a0002c0008t0032g0330 |
3 | 402 | 0.0075 | 8 | c.-35 others(19): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 3501 | chr1 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24499976 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG02970.hp2 others(2): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0012 | a0002c0002t0007a0002c0002t0012a0002c0002t0026others(2): Show | a0002c0002t0007g0070 a0002c0002t0012g0025 a0002c0002t0026g0071 others(2): Show |
5 | 254 | 0.0197 | 8 | c.355 others(25): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |