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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACAD10_chr12_111681053_111762099 | 111754622 | CCATGCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(187): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0008t0001others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(179): Show |
190 | 334 | 0.5689 | -6 | c.296 others(23): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111760567 | ATATTAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(77): Show |
a0001a0005a0011 | a0001c0001a0001c0008a0005c0016others(1): Show | a0001c0001t0001a0001c0008t0001a0005c0016t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(74): Show |
80 | 334 | 0.2395 | -6 | c.*40 others(17): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 3469 | chr12 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132568801 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00741.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0005 | a0001c0001t0001a0001c0010t0001a0002c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(66): Show |
75 | 187 | 0.4011 | -6 | c.200 others(25): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 17/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641560 | TGAAGAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00621.hp1 others(89): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0009others(4): Show | a0001c0001t0001a0001c0006t0004a0001c0009t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(81): Show |
92 | 212 | 0.4340 | -6 | c.537 others(21): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641668 | AGAAGAG | A | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp1 HG02647.hp1 others(14): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(14): Show |
17 | 303 | 0.0561 | -6 | c.537 others(21): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641698 | GGAAGAA | G | intron_variant | MODIFIER | HG03209.hp2 NA19030.hp2 NA20905.hp2 |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0001a0010c0014t0001 | a0001c0001t0001g0070 a0001c0001t0001g0176 a0010c0014t0001g0273 |
3 | 254 | 0.0118 | -6 | c.537 others(21): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACADL_chr2_210182923_210230447 | 210184989 | GACACAC | G | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01516.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0098 a0001c0001t0001g0099 others(19): Show |
22 | 68 | 0.3235 | -6 | c.*39 others(17): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 2933 | chr2 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75731278 | CAAAAAA | C | intron_variant | MODIFIER | HG01255.hp2 HG02615.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(5): Show |
8 | 100 | 0.0800 | -6 | c.119 others(23): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737279 | AATATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG01123.hp2 HG01257.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0074 others(7): Show |
10 | 110 | 0.0909 | -6 | c.468 others(23): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045131 | GTATATA | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(20): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(5): Show | a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0184 others(15): Show |
23 | 273 | 0.0842 | -6 | c.900 others(21): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADS_chr12_120720826_120745008 | 120733236 | GGGGAGA | G | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01069.hp1 others(28): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0060 others(24): Show |
31 | 424 | 0.0731 | -6 | c.211 others(23): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACADS_chr12_120720826_120745008 | 120736006 | CGTCCCT | C | intron_variant | MODIFIER | HG01943.hp1 HG03017.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0064 others(2): Show |
6 | 424 | 0.0142 | -6 | c.211 others(21): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88842506 | GCCCATC | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00639.hp2 others(130): Show |
a0001a0003a0005others(44): Show | a0001c0009a0003c0002a0005c0091others(60): Show | a0001c0009t0001a0003c0002t0001a0003c0002t0014others(65): Show | a0001c0009t0001g0124 a0003c0002t0001g0023 a0003c0002t0001g0058 others(128): Show |
133 | 353 | 0.3768 | -6 | c.757 others(21): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195294606 | AAATTAT | A | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01070.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0019 a0001c0001t0002g0201 a0001c0001t0002g0202 others(5): Show |
8 | 241 | 0.0332 | -6 | c.176 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195294608 | ATTATAT | A | intron_variant | MODIFIER | HG01256.hp2 HG01517.hp2 HG02735.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0171 others(5): Show |
8 | 256 | 0.0313 | -6 | c.176 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195304163 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(85): Show |
88 | 115 | 0.7652 | -6 | c.111 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195351197 | AACCTCC | A | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0037 | a0001c0001t0002g0006 a0001c0001t0002g0119 a0001c0001t0002g0285 others(6): Show |
9 | 322 | 0.0280 | -6 | c.286 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195351441 | CGTGTGT | C | intron_variant | MODIFIER | HG01943.hp2 HG01975.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 others(10): Show |
13 | 23 | 0.5652 | -6 | c.286 others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195424283 | ATTTTTT | A | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01168.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0317 a0001c0001t0003g0010 a0001c0001t0003g0011 others(22): Show |
25 | 100 | 0.2500 | -6 | c.53+ others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195424915 | TAAAAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 others(30): Show |
33 | 121 | 0.2727 | -6 | c.53+ others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1302308 | TGAGCCG | T | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0047 others(1): Show |
7 | 294 | 0.0238 | -6 | c.280 others(21): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
ACAT2_chr6_159757045_159784112 | 159778422 | TTTAAAA | T | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01891.hp2 others(1): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0008 a0002c0004t0001g0038 a0002c0004t0001g0040 others(1): Show |
4 | 145 | 0.0276 | -6 | c.102 others(23): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 8/8 | chr6 | TogoVar | |||||||
ACBD3_chr1_226139679_226191741 | 226178574 | CAAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0225 others(17): Show |
22 | 107 | 0.2056 | -6 | c.286 others(23): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27191898 | TAATAAC | T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG01884.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 others(27): Show |
30 | 382 | 0.0785 | -6 | c.*55 others(17): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 3315 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27193114 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00735.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0012others(4): Show | a0001c0001t0001g0114 a0001c0001t0001g0266 a0001c0001t0001g0267 others(21): Show |
27 | 45 | 0.6000 | -6 | c.*43 others(17): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2099 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27194612 | AAATAAT | A | downstream_gene_variant | MODIFIER | HG00673.hp1 NA18906.hp2 NA19043.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0005a0003c0006t0004 | a0001c0001t0005g0034 a0001c0001t0005g0035 a0003c0006t0004g0002 |
3 | 48 | 0.0625 | -6 | c.*28 others(17): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 601 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27222662 | CTGGGTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(48): Show |
a0001a0003 | a0001c0005a0003c0006a0003c0013 | a0001c0005t0002a0001c0005t0008a0001c0005t0014others(4): Show | a0001c0005t0002g0038 a0001c0005t0002g0039 a0001c0005t0002g0040 others(44): Show |
51 | 382 | 0.1335 | -6 | c.490 others(21): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 5/12 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27226449 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00741.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0210 a0001c0001t0001g0266 others(16): Show |
20 | 179 | 0.1117 | -6 | c.376 others(23): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180377949 | AAATAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0058 a0001c0001t0002g0284 a0001c0001t0002g0285 others(49): Show |
52 | 84 | 0.6190 | -6 | c.663 others(25): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180382003 | GGAGGCT | G | intron_variant | MODIFIER | HG02129.hp1 HG02165.hp1 NA18981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 others(2): Show |
5 | 332 | 0.0151 | -6 | c.663 others(25): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180433574 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01243.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0286 others(32): Show |
35 | 36 | 0.9722 | -6 | c.385 others(23): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
ACCSL_chr11_44042981_44064977 | 44054454 | TTTTTTG | T | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02615.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0001a0001c0008t0001 | a0001c0001t0001g0020 a0001c0001t0001g0088 a0001c0001t0001g0090 others(11): Show |
22 | 444 | 0.0495 | -6 | c.105 others(23): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACCSL_chr11_44042981_44064977 | 44064564 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00558.hp1 others(32): Show |
a0001a0010 | a0001c0001a0001c0005a0010c0014 | a0001c0001t0001a0001c0005t0001a0010c0014t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 others(15): Show |
35 | 163 | 0.2147 | -6 | c.*46 others(17): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 4588 | chr11 | TogoVar | |||||||
ACCSL_chr11_44042981_44064977 | 44064607 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02074.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 |
8 | 138 | 0.0580 | -6 | c.*46 others(17): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 4631 | chr11 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44064564 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 others(24): Show |
33 | 153 | 0.2157 | -6 | c.-21 others(17): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1705 | chr11 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44064607 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02074.hp1 HG02896.hp1 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0003c0008others(2): Show | a0001c0001t0001a0003c0002t0002a0003c0008t0001others(2): Show | a0001c0001t0001g0073 a0003c0002t0002g0013 a0003c0002t0002g0229 others(5): Show |
8 | 133 | 0.0602 | -6 | c.-20 others(17): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1662 | chr11 | TogoVar | |||||||
ACE2_chrX_15556033_15605960 | 15562655 | GATATAT | G | intron_variant | MODIFIER | HG02293.hp2 HG02451.hp1 HG02738.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0103 others(7): Show |
17 | 114 | 0.1491 | -6 | c.231 others(23): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 17/17 | chrX | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6330457 | TGGTGCC | T | intron_variant | MODIFIER | HG01358.hp2 HG01433.hp2 HG02451.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(12): Show |
15 | 394 | 0.0381 | -6 | c.93+ others(21): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACER2_chr9_19404009_19457505 | 19426358 | TTCTCTC | T | intron_variant | MODIFIER | HG00438.hp1 HG02486.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0001g0269 a0001c0001t0006g0010 a0001c0001t0006g0302 others(2): Show |
6 | 148 | 0.0405 | -6 | c.365 others(23): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76868375 | ATCTCTC | A | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG02818.hp2 |
a0002 | a0002c0002 | a0002c0002t0025a0002c0002t0099a0002c0002t0118 | a0002c0002t0025g0224 a0002c0002t0099g0223 a0002c0002t0118g0216 |
3 | 323 | 0.0093 | -6 | c.103 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76868387 | CTCTCTG | C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01496.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0017others(1): Show | a0001c0001t0008g0062 a0001c0001t0014g0199 a0001c0001t0017g0195 others(5): Show |
8 | 199 | 0.0402 | -6 | c.103 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76875732 | GTTTTTT | G | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02647.hp2 others(13): Show |
a0001 | a0001c0003 | a0001c0003t0130a0001c0003t0131a0001c0003t0132others(13): Show | a0001c0003t0130g0342 a0001c0003t0131g0343 a0001c0003t0132g0340 others(13): Show |
16 | 186 | 0.0860 | -6 | c.103 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76924973 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0129a0001c0003t0130a0001c0003t0131others(4): Show | a0001c0003t0129g0346 a0001c0003t0130g0342 a0001c0003t0131g0343 others(4): Show |
7 | 14 | 0.5000 | -6 | c.104 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76941012 | AACACAC | A | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02723.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0025a0002c0002t0118others(3): Show | a0002c0002t0020g0214 a0002c0002t0020g0215 a0002c0002t0020g0217 others(8): Show |
11 | 230 | 0.0478 | -6 | c.214 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76941035 | ACACACG | A | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(15): Show | a0001c0001t0002g0164 a0001c0001t0003g0052 a0001c0001t0013g0019 others(19): Show |
22 | 344 | 0.0640 | -6 | c.214 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76948211 | CTGTGTG | C | intron_variant | MODIFIER | HG01943.hp1 HG01993.hp1 HG02280.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0005a0001c0003t0026a0001c0003t0152others(9): Show | a0001c0001t0005g0184 a0001c0003t0026g0120 a0001c0003t0152g0125 others(14): Show |
17 | 78 | 0.2179 | -6 | c.215 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76950352 | CATATAT | C | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 NA18980.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0009a0002c0002t0010others(1): Show | a0002c0002t0001g0236 a0002c0002t0001g0256 a0002c0002t0001g0272 others(3): Show |
6 | 179 | 0.0335 | -6 | c.215 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76952126 | TTATATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(60): Show |
63 | 283 | 0.2226 | -6 | c.215 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76952135 | TATATAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00621.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(27): Show | a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 others(66): Show |
69 | 341 | 0.2023 | -6 | c.215 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76982366 | GCCACCA | G | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02922.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0021a0002c0002t0045a0002c0002t0122others(2): Show | a0002c0002t0021g0006 a0002c0002t0021g0008 a0002c0002t0021g0010 others(6): Show |
9 | 344 | 0.0262 | -6 | c.321 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |