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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0285 a0001c0004t0001g0219 a0001c0004t0001g0220 others(18): Show |
22 | 38 | 0.5789 | -19 | c.767 others(34): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110188 | TTTGTGTG others(12): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0215 | 1 | 355 | 0.0028 | -19 | c.915 others(36): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110231 | GTGTGTGT others(12): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0229 | 1 | 362 | 0.0028 | -19 | c.915 others(36): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67242429 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 128 | 0.0078 | -19 | c.74- others(34): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AARD_chr8_116933207_116949487 | 116941932 | AGATCTTT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(101): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 others(12): Show |
104 | 440 | 0.2364 | -19 | c.325 others(34): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70255478 | GTGAGCCA others(12): Show |
G | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 360 | 0.0028 | -19 | c.228 others(36): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70291150 | ACAGCAGG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 360 | 0.0028 | -19 | c.-17 others(30): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1645 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8724731 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG02080.hp2 HG02630.hp1 HG02630.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0003a0002c0002t0020a0002c0005t0003others(1): Show | a0001c0001t0003g0105 a0002c0002t0020g0238 a0002c0005t0003g0173 others(1): Show |
4 | 257 | 0.0156 | -19 | c.-41 others(38): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69191462 | CACTTCAA others(12): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 346 | 0.0029 | -19 | c.187 others(36): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 16/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210832 | CACATATT others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(111): Show |
a0002a0003a0010others(3): Show | a0002c0002a0002c0015a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(6): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(107): Show |
114 | 319 | 0.3574 | -19 | c.100 others(38): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69211305 | CATATATA others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01257.hp2 others(11): Show |
a0002a0003a0019 | a0002c0002a0003c0003a0019c0026 | a0002c0002t0001a0003c0003t0001a0019c0026t0001 | a0002c0002t0001g0119 a0003c0003t0001g0023 a0003c0003t0001g0024 others(11): Show |
14 | 203 | 0.0690 | -19 | c.100 others(38): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48204385 | ATTTTTAG others(12): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 176 | 0.0057 | -19 | c.287 others(36): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862680 | GGGCCGGG others(12): Show |
G | intron_variant | MODIFIER | HG02976.hp1 NA18962.hp1 |
a0002a0003 | a0002c0075a0003c0009 | a0002c0075t0027a0003c0009t0046 | a0002c0075t0027g0153 a0003c0009t0046g0274 |
2 | 246 | 0.0081 | -19 | c.422 others(34): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2316490 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01255.hp2 NA18948.hp2 NA18966.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0235 a0001c0002t0003g0016 a0001c0002t0003g0019 |
3 | 18 | 0.1667 | -19 | c.111 others(36): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146202 | TACGGAAT others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0030 | 1 | 324 | 0.0031 | -19 | c.-45 others(30): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4308 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0019 | a0019c0028 | a0019c0028t0001 | a0019c0028t0001g0112 | 1 | 41 | 0.0244 | -19 | c.150 others(34): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229529295 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02451.hp1 HG03225.hp1 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0010 a0004c0005t0005g0011 a0004c0005t0005g0012 others(2): Show |
5 | 47 | 0.1064 | -19 | c.164 others(36): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20680995 | TTTCTTTC others(12): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 HG02809.hp1 others(3): Show |
a0033a0036a0046others(3): Show | a0033c0096a0036c0100a0046c0098others(3): Show | a0033c0096t0001a0036c0100t0005a0046c0098t0006others(3): Show | a0033c0096t0001g0100 a0036c0100t0005g0097 a0046c0098t0006g0098 others(3): Show |
6 | 358 | 0.0168 | -19 | c.170 others(36): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20681096 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(41): Show |
a0001a0004a0005others(10): Show | a0001c0001a0001c0005a0004c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(21): Show | a0001c0001t0001g0232 a0001c0001t0001g0281 a0001c0001t0001g0292 others(40): Show |
44 | 358 | 0.1229 | -19 | c.170 others(36): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | chr7 | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75104047 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0158 | 1 | 22 | 0.0455 | -19 | c.334 others(36): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16004129 | GCTGTGGT others(12): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0001 | a0001c0015 | a0001c0015t0013 | a0001c0015t0013g0035 a0001c0015t0013g0062 |
2 | 248 | 0.0081 | -19 | c.49- others(34): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16053774 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0037 | a0001c0001t0017a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0017g0023 a0001c0002t0002g0150 a0001c0002t0005g0117 others(1): Show |
4 | 36 | 0.1111 | -19 | c.147 others(36): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673980 | CTCTCTCT others(12): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG02055.hp1 HG02148.hp1 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0002a0001c0003t0001a0001c0009t0001others(3): Show | a0001c0001t0002g0341 a0001c0003t0001g0240 a0001c0003t0001g0285 others(6): Show |
9 | 256 | 0.0352 | -19 | c.259 others(36): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50673988 | CTCTCTCT others(12): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 281 | 0.0036 | -19 | c.259 others(36): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95054021 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 19 | 0.0526 | -19 | c.336 others(36): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21870479 | AACTGCTG others(12): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 210 | 0.0048 | -19 | c.219 others(38): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 18/39 | chr12 | TogoVar | |||||||
ABCD3_chr1_94413389_94523663 | 94456255 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0190 | 1 | 19 | 0.0526 | -19 | c.111 others(36): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42292840 | ACACAGTA others(12): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG02738.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0294 a0001c0001t0013g0295 a0001c0001t0013g0296 |
3 | 352 | 0.0085 | -19 | c.165 others(38): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42295333 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01261.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0142 a0001c0001t0001g0171 others(10): Show |
13 | 34 | 0.3824 | -19 | c.177 others(36): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0006 a0002c0002t0002g0143 |
2 | 5 | 0.4000 | -19 | c.-74 others(28): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43876618 | TGTGAGAA others(12): Show |
T | intron_variant | MODIFIER | HG02717.hp2 NA20129.hp1 |
a0003a0015 | a0003c0014a0015c0028 | a0003c0014t0043a0015c0028t0043 | a0003c0014t0043g0217 a0015c0028t0043g0291 |
2 | 316 | 0.0063 | -19 | c.175 others(36): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50884702 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 NA19043.hp2 |
a0001a0008 | a0001c0001a0008c0017 | a0001c0001t0003a0008c0017t0006 | a0001c0001t0003g0191 a0001c0001t0003g0192 a0008c0017t0006g0224 |
3 | 4 | 0.7500 | -19 | c.487 others(34): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01358.hp1 HG03927.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0005c0009t0001g0001 |
4 | 51 | 0.0784 | -19 | c.*87 others(28): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 NA18987.hp1 NA19076.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 63 | 0.0635 | -19 | c.*24 others(30): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26818158 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0299 | 1 | 31 | 0.0323 | -19 | c.285 others(36): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26857320 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01109.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0144 |
2 | 91 | 0.0220 | -19 | c.117 others(36): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABL1_chr9_130830254_130892675 | 130835348 | GGGGCGCC others(12): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02717.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0016 | a0001c0001t0015g0193 a0001c0003t0016g0192 |
2 | 276 | 0.0072 | -19 | c.-94 others(26): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 1/11 | 76 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABL2_chr1_179094330_179234677 | 179114350 | GTGAGCCG others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(186): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0008a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 others(186): Show |
189 | 348 | 0.5431 | -19 | c.156 others(36): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179182884 | TGGAATAT others(12): Show |
T | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 348 | 0.0029 | -19 | c.157 others(38): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114536227 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00673.hp1 others(55): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(45): Show | a0001c0001t0004g0100 a0001c0001t0005g0071 a0001c0001t0006g0090 others(55): Show |
58 | 89 | 0.6517 | -19 | c.894 others(36): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ABRA_chr8_106754483_106775244 | 106758205 | CTCATCTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(91): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0008others(5): Show | a0001c0001t0001g0022 a0001c0003t0001g0002 a0001c0003t0001g0016 others(14): Show |
94 | 438 | 0.2146 | -19 | c.*28 others(30): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 1277 | chr8 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1003763 | TCCTGCTG others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02922.hp2 HG02970.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0040a0001c0003t0024a0001c0003t0052others(1): Show | a0001c0001t0040g0001 a0001c0003t0024g0039 a0001c0003t0052g0216 others(1): Show |
4 | 336 | 0.0119 | -19 | c.*22 others(30): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 23/23 | 2298 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1079788 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03130.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0015 | a0001c0001t0007g0281 a0001c0001t0011g0247 a0001c0001t0015g0276 |
3 | 9 | 0.3333 | -19 | c.640 others(34): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143150 | TGGGGGAC others(12): Show |
T | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 336 | 0.0030 | -19 | c.62- others(36): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1180020 | TGGGGCGG others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02970.hp1 HG03130.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0021a0001c0003t0024a0001c0004t0024 | a0001c0003t0021g0277 a0001c0003t0024g0039 a0001c0004t0024g0040 |
3 | 336 | 0.0089 | -19 | c.-31 others(28): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 40 | chr17 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34209600 | GGAGGGGT others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0123 |
2 | 243 | 0.0082 | -19 | c.884 others(36): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34209652 | GGGGGTGA others(12): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01891.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0095 others(20): Show |
23 | 244 | 0.0943 | -19 | c.884 others(36): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107581054 | TGGGGGGA others(12): Show |
T | intron_variant | MODIFIER | HG02056.hp2 NA19086.hp2 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0016 | a0003c0004t0001g0040 a0003c0004t0016g0005 |
2 | 186 | 0.0108 | -19 | c.149 others(34): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107608949 | AATAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0015 | a0002c0015t0007 | a0002c0015t0007g0166 | 1 | 185 | 0.0054 | -19 | c.164 others(38): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37173993 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG03486.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 a0001c0001t0003g0091 a0001c0001t0003g0098 |
3 | 297 | 0.0101 | -19 | c.507 others(38): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar |